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Gene: CDHR2 (cadherin related family member 2) Homo sapiens

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Symbol:

CDHR2

Name:

cadherin related family member 2

RGD ID:

1606556

HGNC Page

HGNC:18231

Description:

Enables cell adhesion molecule binding activity. Involved in several processes, including cell-cell adhesion mediated by cadherin; intermicrovillar adhesion; and negative regulation of cell growth involved in contact inhibition. Located in apical plasma membrane; brush border membrane; and microvillus membrane.

Type:

protein-coding

RefSeq Status:

REVIEWED

Previously known as:

cadherin-related family member 2; FLJ20124; FLJ20383; MGC163154; PC-LKC; PCDH24; PCLCK; PCLKC; protocadherin 24; protocadherin-24

RGD Orthologs

Alliance Orthologs

More Info

more info ...

More Info

Species	Gene symbol and name	Data Source	Assertion derived from	less info ...
Orthologs ¹				less info ...
Mus musculus (house mouse):	Cdhr2 (cadherin-related family member 2)	HGNC	EggNOG, Ensembl, HGNC, HomoloGene, Inparanoid, NCBI, OMA, OrthoDB, OrthoMCL, Panther, Treefam
Rattus norvegicus (Norway rat):	Cdhr2 (cadherin-related family member 2)	HGNC	EggNOG, Ensembl, HomoloGene, Inparanoid, NCBI, OMA, OrthoDB, OrthoMCL, Panther, PhylomeDB, Treefam
Chinchilla lanigera (long-tailed chinchilla):	Cdhr2 (cadherin related family member 2)	NCBI	Ortholog
Pan paniscus (bonobo/pygmy chimpanzee):	CDHR2 (cadherin related family member 2)	NCBI	Ortholog
Canis lupus familiaris (dog):	CDHR2 (cadherin related family member 2)	HGNC	EggNOG, Ensembl, HomoloGene, Inparanoid, NCBI, OMA, OrthoDB, OrthoMCL, Panther, Treefam
Ictidomys tridecemlineatus (thirteen-lined ground squirrel):	Cdhr2 (cadherin related family member 2)	NCBI	Ortholog
Sus scrofa (pig):	CDHR2 (cadherin related family member 2)	HGNC	EggNOG, Ensembl, Inparanoid, NCBI, OMA, OrthoDB, Panther, Treefam
Chlorocebus sabaeus (green monkey):	CDHR2 (cadherin related family member 2)	NCBI	Ortholog
Heterocephalus glaber (naked mole-rat):	Cdhr2 (cadherin related family member 2)	NCBI	Ortholog
Other homologs ²
Rattus norvegicus (Norway rat):	Foxo3 (forkhead box O3)	HGNC	OMA
Alliance orthologs ³
Rattus norvegicus (Norway rat):	Cdhr2 (cadherin-related family member 2)	Alliance	DIOPT (Ensembl Compara\|HGNC\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PhylomeDB\|SonicParanoid)
Mus musculus (house mouse):	Cdhr2 (cadherin-related family member 2)	Alliance	DIOPT (Ensembl Compara\|HGNC\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PhylomeDB\|SonicParanoid)
Danio rerio (zebrafish):	cdhr2 (cadherin related family member 2)	Alliance	DIOPT (Ensembl Compara\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Drosophila melanogaster (fruit fly):	Cad88C	Alliance	DIOPT (Ensembl Compara\|InParanoid\|PhylomeDB)
Xenopus laevis (African clawed frog):	cdhr2.L	Alliance	DIOPT (Xenbase)
Xenopus tropicalis (tropical clawed frog):	cdhr2	Alliance	DIOPT (OMA\|OrthoFinder\|PhylomeDB)

Allele / Splice:

See ClinVar data

Latest Assembly:

GRCh38 - Human Genome Assembly GRCh38

Position:

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	5	176,542,511 - 176,595,974 (+)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	5	176,542,511 - 176,595,974 (+)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	5	175,969,512 - 176,022,975 (+)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	5	175,908,971 - 175,955,375 (+)	NCBI	NCBI36	Build 36	hg18	NCBI36
Celera	5	172,478,089 - 172,531,637 (-)	NCBI		Celera
Cytogenetic Map	5	q35.2	NCBI
HuRef	5	170,893,401 - 170,947,042 (+)	NCBI		HuRef
CHM1_1	5	175,402,210 - 175,455,196 (+)	NCBI		CHM1_1
T2T-CHM13v2.0	5	177,087,074 - 177,142,566 (+)	NCBI		T2T-CHM13v2.0

JBrowse:

View Region in Genome Browser (JBrowse)

Model

Annotation Click to see Annotation Detail View

Disease Annotations Click to see Annotation Detail View

Chromosome 5, Trisomy 5q (IAGP)

Ehlers-Danlos syndrome dermatosparaxis type (IAGP)

Marfanoid Mental Retardation Syndrome, Autosomal (IAGP)

Sotos syndrome (IAGP)

Gene-Chemical Interaction Annotations Click to see Annotation Detail View

1,2-dimethylhydrazine (ISO)

17beta-estradiol (ISO)

2,3,7,8-tetrachlorodibenzodioxine (ISO)

3,4-methylenedioxymethamphetamine (ISO)

4,4'-sulfonyldiphenol (ISO)

4-hydroxyphenyl retinamide (ISO)

6-propyl-2-thiouracil (ISO)

aflatoxin B1 (EXP,ISO)

benzo[a]pyrene (EXP,ISO)

benzo[e]pyrene (EXP)

beta-lapachone (EXP)

bis(2-ethylhexyl) phthalate (ISO)

bisphenol A (ISO)

chlorpyrifos (ISO)

chromium(6+) (ISO)

Cuprizon (ISO)

cyclosporin A (EXP)

dextran sulfate (ISO)

folic acid (ISO)

GW 4064 (ISO)

isoflurane (ISO)

methamphetamine (ISO)

methapyrilene (EXP)

mono(2-ethylhexyl) phthalate (ISO)

N-nitrosodiethylamine (ISO)

niclosamide (EXP)

paracetamol (ISO)

paraquat (ISO)

phenobarbital (ISO)

potassium dichromate (ISO)

resveratrol (EXP)

sodium arsenite (ISO)

thioacetamide (ISO)

tributylstannane (ISO)

trichloroethene (ISO)

triphenyl phosphate (EXP)

triptonide (ISO)

Gene Ontology Annotations Click to see Annotation Detail View

Biological Process

brush border assembly (IDA)

cell adhesion (IEA)

cell differentiation (IEA)

cell-cell adhesion mediated by cadherin (IDA)

epithelial cell differentiation (IDA)

homophilic cell adhesion via plasma membrane adhesion molecules (IEA)

intermicrovillar adhesion (IMP)

negative regulation of cell growth involved in contact inhibition (IDA)

regulation of microvillus length (IMP)

Cellular Component

anchoring junction (IEA)

apical plasma membrane (IDA,IEA)

brush border (IDA)

brush border membrane (IDA)

cell projection (IEA)

extracellular exosome (HDA)

membrane (IEA)

microvillus (IDA)

microvillus membrane (IDA,IEA)

plasma membrane (IDA,IEA)

Molecular Function

calcium ion binding (IEA)

cell adhesion molecule binding (IBA,IDA)

protein binding (IPI)

References

References - curated

#	Reference Title	Reference Citation
1.	ClinVar Automated Import and Annotation Pipeline	RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
2.	Data Import for Chemical-Gene Interactions	RGD automated import pipeline for gene-chemical interactions

Additional References at PubMed

PMID:8125298	PMID:8889549	PMID:11082270	PMID:12117771	PMID:12477932	PMID:14702039	PMID:15342556	PMID:15534908	PMID:19056867	PMID:19383367	PMID:21330445	PMID:21873635
PMID:22628312	PMID:23376485	PMID:23533145	PMID:24725409	PMID:32209652	PMID:32707033	PMID:33961781	PMID:34871294

Genomics

Comparative Map Data

CDHR2
(Homo sapiens - human)

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	5	176,542,511 - 176,595,974 (+)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	5	176,542,511 - 176,595,974 (+)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	5	175,969,512 - 176,022,975 (+)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	5	175,908,971 - 175,955,375 (+)	NCBI	NCBI36	Build 36	hg18	NCBI36
Celera	5	172,478,089 - 172,531,637 (-)	NCBI		Celera
Cytogenetic Map	5	q35.2	NCBI
HuRef	5	170,893,401 - 170,947,042 (+)	NCBI		HuRef
CHM1_1	5	175,402,210 - 175,455,196 (+)	NCBI		CHM1_1
T2T-CHM13v2.0	5	177,087,074 - 177,142,566 (+)	NCBI		T2T-CHM13v2.0

Cdhr2
(Mus musculus - house mouse)

Mouse Assembly	Chr	Position (strand)	Source	Genome Browsers
Mouse Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCm39	13	54,849,276 - 54,884,475 (+)	NCBI	GRCm39	GRCm39	mm39
GRCm39 Ensembl	13	54,849,274 - 54,884,475 (+)	Ensembl		GRCm39 Ensembl
GRCm38	13	54,701,463 - 54,736,662 (+)	NCBI	GRCm38	GRCm38	mm10	GRCm38
GRCm38.p6 Ensembl	13	54,701,461 - 54,736,662 (+)	Ensembl	GRCm38		mm10	GRCm38
MGSCv37	13	54,802,824 - 54,838,023 (+)	NCBI	GRCm37	MGSCv37	mm9	NCBIm37
MGSCv36	13	54,711,085 - 54,746,277 (+)	NCBI		MGSCv36	mm8
Celera	13	55,767,386 - 55,802,298 (+)	NCBI		Celera
Cytogenetic Map	13	B1	NCBI
cM Map	13	29.03	NCBI

Cdhr2
(Rattus norvegicus - Norway rat)

Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCr8	17	9,881,979 - 9,917,698 (-)	NCBI		GRCr8
mRatBN7.2	17	9,876,853 - 9,913,356 (-)	NCBI	mRatBN7.2	mRatBN7.2
mRatBN7.2 Ensembl	17	9,876,860 - 9,912,575 (-)	Ensembl		mRatBN7.2 Ensembl
Rnor_6.0	17	10,415,044 - 10,450,589 (-)	NCBI	Rnor6.0	Rnor_6.0	rn6	Rnor6.0
Rnor_6.0 Ensembl	17	10,415,123 - 10,439,691 (-)	Ensembl	Rnor6.0		rn6	Rnor6.0
Rnor_5.0	17	12,540,996 - 12,576,334 (-)	NCBI	Rnor5.0	Rnor_5.0	rn5	Rnor5.0
RGSC_v3.4	17	15,937,987 - 15,962,796 (-)	NCBI	RGSC3.4	RGSC_v3.4	rn4	RGSC3.4
Celera	17	9,951,957 - 9,976,839 (-)	NCBI		Celera
Cytogenetic Map	17	p14	NCBI

Cdhr2
(Chinchilla lanigera - long-tailed chinchilla)

Chinchilla Assembly	Chr	Position (strand)	Source	Genome Browsers
Chinchilla Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
ChiLan1.0 Ensembl	NW_004955408	28,832,325 - 28,875,534 (+)	Ensembl	ChiLan1.0
ChiLan1.0	NW_004955408	28,832,362 - 28,871,345 (+)	NCBI	ChiLan1.0	ChiLan1.0

CDHR2
(Pan paniscus - bonobo/pygmy chimpanzee)

Bonobo Assembly	Chr	Position (strand)	Source	Genome Browsers
Bonobo Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
NHGRI_mPanPan1-v2	4	171,630,262 - 171,676,130 (+)	NCBI		NHGRI_mPanPan1-v2
NHGRI_mPanPan1	5	169,769,801 - 169,815,669 (+)	NCBI		NHGRI_mPanPan1
Mhudiblu_PPA_v0	5	171,846,538 - 171,893,797 (+)	NCBI	Mhudiblu_PPA_v0	Mhudiblu_PPA_v0	panPan3
PanPan1.1	5	178,916,707 - 178,963,944 (+)	NCBI	panpan1.1	PanPan1.1	panPan2
PanPan1.1 Ensembl	5	178,916,707 - 178,964,893 (+)	Ensembl	panpan1.1		panPan2

CDHR2
(Canis lupus familiaris - dog)

Dog Assembly	Chr	Position (strand)	Source	Genome Browsers
Dog Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
CanFam3.1	4	36,740,964 - 36,777,118 (-)	NCBI	CanFam3.1	CanFam3.1	canFam3	CanFam3.1
CanFam3.1 Ensembl	4	36,740,966 - 36,777,803 (-)	Ensembl	CanFam3.1		canFam3	CanFam3.1
Dog10K_Boxer_Tasha	4	36,707,763 - 36,743,827 (-)	NCBI		Dog10K_Boxer_Tasha
ROS_Cfam_1.0	4	37,107,067 - 37,143,175 (-)	NCBI		ROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl	4	37,107,075 - 37,143,174 (-)	Ensembl		ROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1	4	36,932,892 - 36,968,996 (-)	NCBI		UMICH_Zoey_3.1
UNSW_CanFamBas_1.0	4	37,120,701 - 37,156,839 (-)	NCBI		UNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0	4	37,628,842 - 37,664,949 (-)	NCBI		UU_Cfam_GSD_1.0

Cdhr2
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)

Squirrel Assembly	Chr	Position (strand)	Source	Genome Browsers
Squirrel Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
HiC_Itri_2	NW_024407213	121,785,575 - 121,831,018 (+)	NCBI		HiC_Itri_2
SpeTri2.0 Ensembl	NW_004936597	831,855 - 857,013 (+)	Ensembl	SpeTri2.0	SpeTri2.0 Ensembl
SpeTri2.0	NW_004936597	831,895 - 855,925 (+)	NCBI	SpeTri2.0	SpeTri2.0		SpeTri2.0

CDHR2
(Sus scrofa - pig)

Pig Assembly	Chr	Position (strand)	Source	Genome Browsers
Pig Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
Sscrofa11.1 Ensembl	2	81,318,407 - 81,361,606 (-)	Ensembl	Sscrofa11.1		susScr11	Sscrofa11.1
Sscrofa11.1	2	81,319,179 - 81,361,598 (-)	NCBI	Sscrofa11.1	Sscrofa11.1	susScr11	Sscrofa11.1
Sscrofa10.2	2	82,920,844 - 82,963,238 (-)	NCBI	Sscrofa10.2	Sscrofa10.2	susScr3

CDHR2
(Chlorocebus sabaeus - green monkey)

Green Monkey Assembly	Chr	Position (strand)	Source	Genome Browsers
Green Monkey Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
ChlSab1.1	23	78,571,170 - 78,602,699 (+)	NCBI	ChlSab1.1	ChlSab1.1	chlSab2
ChlSab1.1 Ensembl	23	78,571,792 - 78,602,552 (+)	Ensembl	ChlSab1.1	ChlSab1.1 Ensembl	chlSab2
Vero_WHO_p1.0	NW_023666075	9,688,711 - 9,736,431 (+)	NCBI	Vero_WHO_p1.0	Vero_WHO_p1.0

Cdhr2
(Heterocephalus glaber - naked mole-rat)

Naked Mole-Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Naked Mole-Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
HetGla_female_1.0 Ensembl	NW_004624733	13,535,809 - 13,576,940 (-)	Ensembl	HetGla_female_1.0	HetGla_female_1.0 Ensembl	hetGla2
HetGla 1.0	NW_004624733	13,537,363 - 13,582,390 (-)	NCBI	HetGla_female_1.0	HetGla 1.0	hetGla2

Variants

Variants in CDHR2
139 total Variants

Clinical Variants

Name	Type	Condition(s)	Position(s)	Clinical significance
GRCh38/hg38 5q35.2-35.3(chr5:176132340-177586960)x1	copy number loss	See cases [RCV000050645]	Chr5:176132340..177586960 [GRCh38] Chr5:175559343..177013961 [GRCh37] Chr5:175491949..176946567 [NCBI36] Chr5:5q35.2-35.3	pathogenic
GRCh38/hg38 5q32-35.3(chr5:149714592-181272151)x3	copy number gain	See cases [RCV000051863]	Chr5:149714592..181272151 [GRCh38] Chr5:149094155..180699152 [GRCh37] Chr5:149074348..180631758 [NCBI36] Chr5:5q32-35.3	pathogenic
GRCh38/hg38 5q33.3-35.3(chr5:160029980-181269805)x3	copy number gain	Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051865]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051865]\|See cases [RCV000051865]	Chr5:160029980..181269805 [GRCh38] Chr5:159456987..180696806 [GRCh37] Chr5:159389565..180629412 [NCBI36] Chr5:5q33.3-35.3	pathogenic
GRCh38/hg38 5q34-35.3(chr5:168689326-181269946)x3	copy number gain	See cases [RCV000051866]	Chr5:168689326..181269946 [GRCh38] Chr5:168116331..180696947 [GRCh37] Chr5:168048909..180629553 [NCBI36] Chr5:5q34-35.3	pathogenic
GRCh38/hg38 5q35.2-35.3(chr5:175851047-178365049)x3	copy number gain	See cases [RCV000051867]	Chr5:175851047..178365049 [GRCh38] Chr5:175278050..177792050 [GRCh37] Chr5:175210656..177724656 [NCBI36] Chr5:5q35.2-35.3	pathogenic
GRCh38/hg38 5q35.2-35.3(chr5:175889986-180793986)x3	copy number gain	See cases [RCV000051868]	Chr5:175889986..180793986 [GRCh38] Chr5:175316989..180220986 [GRCh37] Chr5:175249595..180153592 [NCBI36] Chr5:5q35.2-35.3	pathogenic
GRCh38/hg38 5q35.2-35.3(chr5:175007241-179089812)x1	copy number loss	See cases [RCV000052151]	Chr5:175007241..179089812 [GRCh38] Chr5:174434244..178516813 [GRCh37] Chr5:174366850..178449419 [NCBI36] Chr5:5q35.2-35.3	pathogenic
GRCh38/hg38 5q35.2-35.3(chr5:176043476-177995759)x1	copy number loss	See cases [RCV000053127]	Chr5:176043476..177995759 [GRCh38] Chr5:175470479..177422760 [GRCh37] Chr5:175403085..177355366 [NCBI36] Chr5:5q35.2-35.3	pathogenic
GRCh38/hg38 5q35.2-35.3(chr5:176115257-177646633)x1	copy number loss	See cases [RCV000053128]	Chr5:176115257..177646633 [GRCh38] Chr5:175542260..177073634 [GRCh37] Chr5:175474866..177006240 [NCBI36] Chr5:5q35.2-35.3	pathogenic
GRCh38/hg38 5q35.2-35.3(chr5:176152073-177986213)x1	copy number loss	See cases [RCV000053129]	Chr5:176152073..177986213 [GRCh38] Chr5:175579076..177413214 [GRCh37] Chr5:175511682..177345820 [NCBI36] Chr5:5q35.2-35.3	pathogenic
GRCh38/hg38 5q35.2-35.3(chr5:176152073-177646633)x1	copy number loss	See cases [RCV000053131]	Chr5:176152073..177646633 [GRCh38] Chr5:175579076..177073634 [GRCh37] Chr5:175511682..177006240 [NCBI36] Chr5:5q35.2-35.3	pathogenic
GRCh38/hg38 5q35.2-35.3(chr5:176149599-177716401)x3	copy number gain	See cases [RCV000053481]	Chr5:176149599..177716401 [GRCh38] Chr5:175576602..177143402 [GRCh37] Chr5:175509208..177076008 [NCBI36] Chr5:5q35.2-35.3	pathogenic\|uncertain significance
GRCh38/hg38 5q35.2-35.3(chr5:176043476-177452489)x3	copy number gain	Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053860]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053860]\|See cases [RCV000053860]	Chr5:176043476..177452489 [GRCh38] Chr5:175470479..176879490 [GRCh37] Chr5:175403085..176812096 [NCBI36] Chr5:5q35.2-35.3	pathogenic\|uncertain significance
NM_001171976.1(CDHR2):c.210C>T (p.Phe70=)	single nucleotide variant	Malignant melanoma [RCV000066852]	Chr5:176568763 [GRCh38] Chr5:175995764 [GRCh37] Chr5:175928370 [NCBI36] Chr5:5q35.2	not provided
NM_001171976.1(CDHR2):c.3168G>A (p.Pro1056=)	single nucleotide variant	Malignant melanoma [RCV000066853]	Chr5:176589578 [GRCh38] Chr5:176016579 [GRCh37] Chr5:175949185 [NCBI36] Chr5:5q35.2	not provided
GRCh38/hg38 5q33.3-35.3(chr5:156825512-181269805)x3	copy number gain	See cases [RCV000133847]	Chr5:156825512..181269805 [GRCh38] Chr5:156252523..180696806 [GRCh37] Chr5:156185101..180629412 [NCBI36] Chr5:5q33.3-35.3	pathogenic
GRCh38/hg38 5q34-35.3(chr5:164386701-181269805)x3	copy number gain	See cases [RCV000135546]	Chr5:164386701..181269805 [GRCh38] Chr5:163813707..180696806 [GRCh37] Chr5:163746285..180629412 [NCBI36] Chr5:5q34-35.3	pathogenic
GRCh38/hg38 5q35.1-35.3(chr5:169334755-181285301)x3	copy number gain	See cases [RCV000141249]	Chr5:169334755..181285301 [GRCh38] Chr5:168761759..180712302 [GRCh37] Chr5:168694337..180644908 [NCBI36] Chr5:5q35.1-35.3	pathogenic
GRCh38/hg38 5q35.2-35.3(chr5:175536771-181292788)x1	copy number loss	See cases [RCV000141987]	Chr5:175536771..181292788 [GRCh38] Chr5:174963774..180719789 [GRCh37] Chr5:174896380..180652395 [NCBI36] Chr5:5q35.2-35.3	pathogenic
GRCh38/hg38 5q35.2-35.3(chr5:175989092-178009412)x1	copy number loss	See cases [RCV000142365]	Chr5:175989092..178009412 [GRCh38] Chr5:175416095..177436413 [GRCh37] Chr5:175348701..177369019 [NCBI36] Chr5:5q35.2-35.3	pathogenic
GRCh38/hg38 5q35.2-35.3(chr5:176132340-177995759)x1	copy number loss	See cases [RCV000142510]	Chr5:176132340..177995759 [GRCh38] Chr5:175559343..177422760 [GRCh37] Chr5:175491949..177355366 [NCBI36] Chr5:5q35.2-35.3	pathogenic
GRCh38/hg38 5q35.2-35.3(chr5:176291838-178662699)x1	copy number loss	See cases [RCV000142047]	Chr5:176291838..178662699 [GRCh38] Chr5:175718841..178089700 [GRCh37] Chr5:175651447..178022306 [NCBI36] Chr5:5q35.2-35.3	pathogenic
GRCh38/hg38 5q35.2-35.3(chr5:176517339-177709289)x1	copy number loss	See cases [RCV000142538]	Chr5:176517339..177709289 [GRCh38] Chr5:175944340..177136290 [GRCh37] Chr5:175876946..177068896 [NCBI36] Chr5:5q35.2-35.3	pathogenic
GRCh38/hg38 5q35.1-35.2(chr5:173237772-176614618)x3	copy number gain	See cases [RCV000142647]	Chr5:173237772..176614618 [GRCh38] Chr5:172664775..176041619 [GRCh37] Chr5:172597381..175974225 [NCBI36] Chr5:5q35.1-35.2	pathogenic
GRCh38/hg38 5q35.2-35.3(chr5:176143674-178009412)x1	copy number loss	See cases [RCV000143463]	Chr5:176143674..178009412 [GRCh38] Chr5:175570677..177436413 [GRCh37] Chr5:175503283..177369019 [NCBI36] Chr5:5q35.2-35.3	pathogenic
GRCh37/hg19 5q35.2-35.3(chr5:174397487-180686444)x1	copy number loss	See cases [RCV000167565]	Chr5:174397487..180686444 [GRCh37] Chr5:5q35.2-35.3	pathogenic
GRCh37/hg19 5q15-35.3(chr5:94844077-178830410)x3	copy number gain	not provided [RCV000487658]	Chr5:94844077..178830410 [GRCh37] Chr5:5q15-35.3	likely benign
Single allele	duplication	not provided [RCV000768450]	Chr5:175843728..180703728 [GRCh37] Chr5:5q35.2-35.3	likely pathogenic
GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)	copy number gain	See cases [RCV000510723]	Chr5:113577..180719789 [GRCh37] Chr5:5p15.33-q35.3	pathogenic
GRCh37/hg19 5q35.2-35.3(chr5:175722788-177423091)x3	copy number gain	See cases [RCV000445774]	Chr5:175722788..177423091 [GRCh37] Chr5:5q35.2-35.3	pathogenic
GRCh37/hg19 5q35.2(chr5:176003009-176025378)x3	copy number gain	See cases [RCV000445678]	Chr5:176003009..176025378 [GRCh37] Chr5:5q35.2	likely benign
GRCh37/hg19 5q35.2-35.3(chr5:174427052-180719789)x1	copy number loss	See cases [RCV000448611]	Chr5:174427052..180719789 [GRCh37] Chr5:5q35.2-35.3	pathogenic
GRCh37/hg19 5q35.2-35.3(chr5:175601473-180100378)x1	copy number loss	See cases [RCV000448793]	Chr5:175601473..180100378 [GRCh37] Chr5:5q35.2-35.3	pathogenic
GRCh37/hg19 5q21.3-35.3(chr5:106716357-180687338)x3	copy number gain	See cases [RCV000448245]	Chr5:106716357..180687338 [GRCh37] Chr5:5q21.3-35.3	pathogenic
GRCh37/hg19 5q35.1-35.3(chr5:171396359-180719789)x3	copy number gain	See cases [RCV000448458]	Chr5:171396359..180719789 [GRCh37] Chr5:5q35.1-35.3	pathogenic
GRCh37/hg19 5q35.1-35.3(chr5:172031248-180719789)x3	copy number gain	See cases [RCV000512068]	Chr5:172031248..180719789 [GRCh37] Chr5:5q35.1-35.3	pathogenic
GRCh37/hg19 5q35.2-35.3(chr5:175438045-177392885)x1	copy number loss	See cases [RCV000511974]	Chr5:175438045..177392885 [GRCh37] Chr5:5q35.2-35.3	pathogenic
GRCh37/hg19 5p15.1-q35.2(chr5:17628741-176575720)x1	copy number loss	See cases [RCV000511978]	Chr5:17628741..176575720 [GRCh37] Chr5:5p15.1-q35.2	pathogenic
GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)x3	copy number gain	See cases [RCV000512039]	Chr5:113577..180719789 [GRCh37] Chr5:5p15.33-q35.3	pathogenic
GRCh37/hg19 5q35.2-35.3(chr5:175570677-177439550)x3	copy number gain	See cases [RCV000511393]	Chr5:175570677..177439550 [GRCh37] Chr5:5q35.2-35.3	pathogenic
GRCh37/hg19 5q35.2-35.3(chr5:175570677-180719789)x1	copy number loss	See cases [RCV000510785]	Chr5:175570677..180719789 [GRCh37] Chr5:5q35.2-35.3	pathogenic
NM_017675.6(CDHR2):c.1568G>A (p.Gly523Glu)	single nucleotide variant	not specified [RCV004312996]	Chr5:176578089 [GRCh38] Chr5:176005090 [GRCh37] Chr5:5q35.2	uncertain significance
GRCh37/hg19 5q35.2-35.3(chr5:175570678-177437340)x1	copy number loss	See cases [RCV000512405]	Chr5:175570678..177437340 [GRCh37] Chr5:5q35.2-35.3	pathogenic
GRCh37/hg19 5q35.2-35.3(chr5:175438045-177481250)x1	copy number loss	not provided [RCV000682614]	Chr5:175438045..177481250 [GRCh37] Chr5:5q35.2-35.3	pathogenic
GRCh37/hg19 5q35.2(chr5:175668563-176401296)x1	copy number loss	not provided [RCV000682617]	Chr5:175668563..176401296 [GRCh37] Chr5:5q35.2	uncertain significance
GRCh37/hg19 5q35.2-35.3(chr5:175570677-177436413)x1	copy number loss	not provided [RCV000682615]	Chr5:175570677..177436413 [GRCh37] Chr5:5q35.2-35.3	pathogenic
GRCh37/hg19 5p15.33-q35.3(chr5:25328-180693344)x3	copy number gain	not provided [RCV000744323]	Chr5:25328..180693344 [GRCh37] Chr5:5p15.33-q35.3	pathogenic
GRCh37/hg19 5p15.33-q35.3(chr5:13648-180905029)x3	copy number gain	not provided [RCV000744317]	Chr5:13648..180905029 [GRCh37] Chr5:5p15.33-q35.3	pathogenic
GRCh37/hg19 5q33.2-35.3(chr5:155344802-180693344)x3	copy number gain	not provided [RCV000745284]	Chr5:155344802..180693344 [GRCh37] Chr5:5q33.2-35.3	pathogenic
GRCh37/hg19 5q35.2-35.3(chr5:174832617-180693344)x3	copy number gain	not provided [RCV000745336]	Chr5:174832617..180693344 [GRCh37] Chr5:5q35.2-35.3	pathogenic
GRCh37/hg19 5q35.2-35.3(chr5:175346223-177423236)x1	copy number loss	not provided [RCV000745338]	Chr5:175346223..177423236 [GRCh37] Chr5:5q35.2-35.3	pathogenic
GRCh37/hg19 5q35.2-35.3(chr5:175433876-177441189)x1	copy number loss	not provided [RCV000745339]	Chr5:175433876..177441189 [GRCh37] Chr5:5q35.2-35.3	pathogenic
GRCh37/hg19 5q35.2(chr5:175915333-175982193)x3	copy number gain	not provided [RCV000745342]	Chr5:175915333..175982193 [GRCh37] Chr5:5q35.2	benign
GRCh37/hg19 5q35.2(chr5:176017452-176056020)x3	copy number gain	not provided [RCV000745343]	Chr5:176017452..176056020 [GRCh37] Chr5:5q35.2	benign
GRCh37/hg19 5q35.2-35.3(chr5:174990352-180690937)	copy number gain	not provided [RCV000767711]	Chr5:174990352..180690937 [GRCh37] Chr5:5q35.2-35.3	pathogenic
GRCh37/hg19 5q32-35.3(chr5:149010383-180719789)	copy number gain	Hunter-McAlpine craniosynostosis [RCV002280612]	Chr5:149010383..180719789 [GRCh37] Chr5:5q32-35.3	pathogenic
NM_017675.6(CDHR2):c.2359G>C (p.Gly787Arg)	single nucleotide variant	not specified [RCV004296089]	Chr5:176584640 [GRCh38] Chr5:176011641 [GRCh37] Chr5:5q35.2	uncertain significance
Single allele	deletion	Marfanoid habitus and intellectual disability [RCV000851176]	Chr5:175875407..177036017 [GRCh37] Chr5:5q35.2-35.3	likely pathogenic
GRCh37/hg19 5q35.2-35.3(chr5:175570677-177439550)x3	copy number gain	not provided [RCV000846148]	Chr5:175570677..177439550 [GRCh37] Chr5:5q35.2-35.3	pathogenic
NM_017675.6(CDHR2):c.851C>A (p.Thr284Lys)	single nucleotide variant	not specified [RCV004283863]	Chr5:176575730 [GRCh38] Chr5:176002731 [GRCh37] Chr5:5q35.2	uncertain significance
NM_017675.6(CDHR2):c.1557C>G (p.Ser519Arg)	single nucleotide variant	not specified [RCV004303017]	Chr5:176578078 [GRCh38] Chr5:176005079 [GRCh37] Chr5:5q35.2	uncertain significance
NM_017675.6(CDHR2):c.2932G>C (p.Gly978Arg)	single nucleotide variant	not specified [RCV004317047]	Chr5:176589106 [GRCh38] Chr5:176016107 [GRCh37] Chr5:5q35.2	uncertain significance
GRCh37/hg19 5q35.1-35.3(chr5:170805664-180719789)x3	copy number gain	5q35 microduplication syndrome [RCV001263227]	Chr5:170805664..180719789 [GRCh37] Chr5:5q35.1-35.3	pathogenic
GRCh37/hg19 5q35.2-35.3(chr5:175346695-177469711)x1	copy number loss	Sotos syndrome [RCV003232270]	Chr5:175346695..177469711 [GRCh37] Chr5:5q35.2-35.3	pathogenic
GRCh37/hg19 5q35.2-35.3(chr5:175570677-177114151)x3	copy number gain	not provided [RCV001258712]	Chr5:175570677..177114151 [GRCh37] Chr5:5q35.2-35.3	pathogenic
GRCh37/hg19 5q35.2-35.3(chr5:175394616-177436413)x3	copy number gain	not provided [RCV001258713]	Chr5:175394616..177436413 [GRCh37] Chr5:5q35.2-35.3	pathogenic
NM_017675.6(CDHR2):c.3371A>T (p.Gln1124Leu)	single nucleotide variant	not specified [RCV004610156]	Chr5:176590442 [GRCh38] Chr5:176017443 [GRCh37] Chr5:5q35.2	uncertain significance
NM_017675.6(CDHR2):c.533G>A (p.Arg178Gln)	single nucleotide variant	not specified [RCV004610159]	Chr5:176575121 [GRCh38] Chr5:176002122 [GRCh37] Chr5:5q35.2	uncertain significance
NM_017675.6(CDHR2):c.3703C>A (p.Leu1235Ile)	single nucleotide variant	not specified [RCV004610164]	Chr5:176591453 [GRCh38] Chr5:176018454 [GRCh37] Chr5:5q35.2	uncertain significance
NM_017675.6(CDHR2):c.1772A>G (p.Asn591Ser)	single nucleotide variant	not specified [RCV004610168]	Chr5:176578562 [GRCh38] Chr5:176005563 [GRCh37] Chr5:5q35.2	uncertain significance
NM_017675.6(CDHR2):c.2476G>A (p.Gly826Ser)	single nucleotide variant	not specified [RCV004610151]	Chr5:176584757 [GRCh38] Chr5:176011758 [GRCh37] Chr5:5q35.2	uncertain significance
NM_017675.6(CDHR2):c.3548G>A (p.Arg1183Gln)	single nucleotide variant	not specified [RCV004610157]	Chr5:176591218 [GRCh38] Chr5:176018219 [GRCh37] Chr5:5q35.2	uncertain significance
NM_017675.6(CDHR2):c.1990A>G (p.Thr664Ala)	single nucleotide variant	not specified [RCV004610161]	Chr5:176581514 [GRCh38] Chr5:176008515 [GRCh37] Chr5:5q35.2	uncertain significance
NM_017675.6(CDHR2):c.1187C>T (p.Pro396Leu)	single nucleotide variant	not specified [RCV004610165]	Chr5:176576178 [GRCh38] Chr5:176003179 [GRCh37] Chr5:5q35.2	uncertain significance
NM_017675.6(CDHR2):c.3245T>C (p.Val1082Ala)	single nucleotide variant	not specified [RCV004610170]	Chr5:176590116 [GRCh38] Chr5:176017117 [GRCh37] Chr5:5q35.2	uncertain significance
GRCh37/hg19 5q35.2(chr5:175668563-176182615)x3	copy number gain	not provided [RCV001836523]	Chr5:175668563..176182615 [GRCh37] Chr5:5q35.2	uncertain significance
NC_000005.9:g.(?_175158654)_(179263593_?)dup	duplication	Ehlers-Danlos syndrome, dermatosparaxis type [RCV003116717]\|Sotos syndrome [RCV003232857]\|not provided [RCV003154288]	Chr5:175158654..179263593 [GRCh37] Chr5:5q35.2-35.3	uncertain significance\|no classifications from unflagged records
GRCh37/hg19 5q35.1-35.3(chr5:170350336-180719789)x3	copy number gain	See cases [RCV002292398]	Chr5:170350336..180719789 [GRCh37] Chr5:5q35.1-35.3	pathogenic
Single allele	duplication	5q35 microduplication syndrome [RCV002286375]	Chr5:176449583..177376826 [GRCh38] Chr5:5q35.2-35.3	pathogenic
NM_017675.6(CDHR2):c.1909C>A (p.Pro637Thr)	single nucleotide variant	not specified [RCV004309907]	Chr5:176581433 [GRCh38] Chr5:176008434 [GRCh37] Chr5:5q35.2	uncertain significance
NM_017675.6(CDHR2):c.1456G>A (p.Val486Ile)	single nucleotide variant	not specified [RCV004149002]	Chr5:176577742 [GRCh38] Chr5:176004743 [GRCh37] Chr5:5q35.2	likely benign
NM_017675.6(CDHR2):c.3523G>A (p.Val1175Met)	single nucleotide variant	not specified [RCV004193810]	Chr5:176590671 [GRCh38] Chr5:176017672 [GRCh37] Chr5:5q35.2	likely benign
NM_017675.6(CDHR2):c.3577G>A (p.Glu1193Lys)	single nucleotide variant	not specified [RCV004214267]	Chr5:176591247 [GRCh38] Chr5:176018248 [GRCh37] Chr5:5q35.2	uncertain significance
NM_017675.6(CDHR2):c.3545A>G (p.Asn1182Ser)	single nucleotide variant	not specified [RCV004112590]	Chr5:176591215 [GRCh38] Chr5:176018216 [GRCh37] Chr5:5q35.2	uncertain significance
NM_017675.6(CDHR2):c.1979G>A (p.Arg660His)	single nucleotide variant	not specified [RCV004245757]	Chr5:176581503 [GRCh38] Chr5:176008504 [GRCh37] Chr5:5q35.2	uncertain significance
NM_017675.6(CDHR2):c.2339C>G (p.Ala780Gly)	single nucleotide variant	not specified [RCV004101008]	Chr5:176584620 [GRCh38] Chr5:176011621 [GRCh37] Chr5:5q35.2	uncertain significance
NM_017675.6(CDHR2):c.2359G>T (p.Gly787Trp)	single nucleotide variant	not specified [RCV004190518]	Chr5:176584640 [GRCh38] Chr5:176011641 [GRCh37] Chr5:5q35.2	uncertain significance
NM_017675.6(CDHR2):c.2986G>A (p.Asp996Asn)	single nucleotide variant	not specified [RCV004242793]	Chr5:176589160 [GRCh38] Chr5:176016161 [GRCh37] Chr5:5q35.2	likely benign
NM_017675.6(CDHR2):c.1652A>G (p.Gln551Arg)	single nucleotide variant	not specified [RCV004089262]	Chr5:176578442 [GRCh38] Chr5:176005443 [GRCh37] Chr5:5q35.2	uncertain significance
NM_017675.6(CDHR2):c.3149G>A (p.Arg1050Gln)	single nucleotide variant	not specified [RCV004104145]	Chr5:176589559 [GRCh38] Chr5:176016560 [GRCh37] Chr5:5q35.2	uncertain significance
NM_017675.6(CDHR2):c.3473G>C (p.Gly1158Ala)	single nucleotide variant	not specified [RCV004186233]	Chr5:176590621 [GRCh38] Chr5:176017622 [GRCh37] Chr5:5q35.2	uncertain significance
NM_017675.6(CDHR2):c.1534G>A (p.Ala512Thr)	single nucleotide variant	not specified [RCV004091039]	Chr5:176578055 [GRCh38] Chr5:176005056 [GRCh37] Chr5:5q35.2	uncertain significance
NM_017675.6(CDHR2):c.2365G>A (p.Glu789Lys)	single nucleotide variant	not specified [RCV004205397]	Chr5:176584646 [GRCh38] Chr5:176011647 [GRCh37] Chr5:5q35.2	uncertain significance
NM_017675.6(CDHR2):c.2630A>G (p.Asn877Ser)	single nucleotide variant	not specified [RCV004201488]	Chr5:176584911 [GRCh38] Chr5:176011912 [GRCh37] Chr5:5q35.2	uncertain significance
NM_017675.6(CDHR2):c.3533G>A (p.Arg1178Gln)	single nucleotide variant	not specified [RCV004104187]	Chr5:176590681 [GRCh38] Chr5:176017682 [GRCh37] Chr5:5q35.2	uncertain significance
NM_017675.6(CDHR2):c.2410A>T (p.Asn804Tyr)	single nucleotide variant	not specified [RCV004136898]	Chr5:176584691 [GRCh38] Chr5:176011692 [GRCh37] Chr5:5q35.2	uncertain significance
NM_017675.6(CDHR2):c.3553C>A (p.Leu1185Ile)	single nucleotide variant	not specified [RCV004210983]	Chr5:176591223 [GRCh38] Chr5:176018224 [GRCh37] Chr5:5q35.2	uncertain significance
NM_017675.6(CDHR2):c.1901C>G (p.Ser634Cys)	single nucleotide variant	not specified [RCV004180307]	Chr5:176581425 [GRCh38] Chr5:176008426 [GRCh37] Chr5:5q35.2	uncertain significance
NM_017675.6(CDHR2):c.785C>T (p.Thr262Met)	single nucleotide variant	not specified [RCV004196252]	Chr5:176575522 [GRCh38] Chr5:176002523 [GRCh37] Chr5:5q35.2	uncertain significance
NM_017675.6(CDHR2):c.1352T>C (p.Val451Ala)	single nucleotide variant	not specified [RCV004236771]	Chr5:176577638 [GRCh38] Chr5:176004639 [GRCh37] Chr5:5q35.2	uncertain significance
NM_017675.6(CDHR2):c.3548G>T (p.Arg1183Leu)	single nucleotide variant	not specified [RCV004162641]	Chr5:176591218 [GRCh38] Chr5:176018219 [GRCh37] Chr5:5q35.2	uncertain significance
NM_017675.6(CDHR2):c.3923C>T (p.Thr1308Met)	single nucleotide variant	not specified [RCV004111457]	Chr5:176595662 [GRCh38] Chr5:176022663 [GRCh37] Chr5:5q35.2	uncertain significance
NM_017675.6(CDHR2):c.1285G>A (p.Val429Ile)	single nucleotide variant	not specified [RCV004197506]	Chr5:176577489 [GRCh38] Chr5:176004490 [GRCh37] Chr5:5q35.2	uncertain significance
NM_017675.6(CDHR2):c.1452G>T (p.Leu484Phe)	single nucleotide variant	not specified [RCV004118879]	Chr5:176577738 [GRCh38] Chr5:176004739 [GRCh37] Chr5:5q35.2	uncertain significance
NM_017675.6(CDHR2):c.289A>G (p.Ile97Val)	single nucleotide variant	not specified [RCV004231691]	Chr5:176568984 [GRCh38] Chr5:175995985 [GRCh37] Chr5:5q35.2	uncertain significance
NM_017675.6(CDHR2):c.842C>T (p.Ser281Phe)	single nucleotide variant	not specified [RCV004165222]	Chr5:176575579 [GRCh38] Chr5:176002580 [GRCh37] Chr5:5q35.2	uncertain significance
NM_017675.6(CDHR2):c.1147C>G (p.Arg383Gly)	single nucleotide variant	not specified [RCV004160833]	Chr5:176576138 [GRCh38] Chr5:176003139 [GRCh37] Chr5:5q35.2	uncertain significance
NM_017675.6(CDHR2):c.2672C>T (p.Thr891Met)	single nucleotide variant	not specified [RCV004079471]	Chr5:176584953 [GRCh38] Chr5:176011954 [GRCh37] Chr5:5q35.2	uncertain significance
NM_017675.6(CDHR2):c.2655G>T (p.Glu885Asp)	single nucleotide variant	not specified [RCV004103907]	Chr5:176584936 [GRCh38] Chr5:176011937 [GRCh37] Chr5:5q35.2	uncertain significance
NM_017675.6(CDHR2):c.2266G>A (p.Gly756Ser)	single nucleotide variant	not specified [RCV004165711]	Chr5:176584547 [GRCh38] Chr5:176011548 [GRCh37] Chr5:5q35.2	uncertain significance
NM_017675.6(CDHR2):c.2362G>T (p.Gly788Cys)	single nucleotide variant	not specified [RCV004198785]	Chr5:176584643 [GRCh38] Chr5:176011644 [GRCh37] Chr5:5q35.2	uncertain significance
NM_017675.6(CDHR2):c.1196G>A (p.Gly399Asp)	single nucleotide variant	not specified [RCV004166625]	Chr5:176577400 [GRCh38] Chr5:176004401 [GRCh37] Chr5:5q35.2	uncertain significance
NM_017675.6(CDHR2):c.2276G>A (p.Arg759Gln)	single nucleotide variant	not specified [RCV004241720]	Chr5:176584557 [GRCh38] Chr5:176011558 [GRCh37] Chr5:5q35.2	uncertain significance
NM_017675.6(CDHR2):c.1616C>T (p.Thr539Met)	single nucleotide variant	not specified [RCV004238859]	Chr5:176578406 [GRCh38] Chr5:176005407 [GRCh37] Chr5:5q35.2	uncertain significance
NM_017675.6(CDHR2):c.1133A>T (p.Glu378Val)	single nucleotide variant	not specified [RCV004241670]	Chr5:176576124 [GRCh38] Chr5:176003125 [GRCh37] Chr5:5q35.2	uncertain significance
NM_017675.6(CDHR2):c.1777T>C (p.Phe593Leu)	single nucleotide variant	not specified [RCV004195310]	Chr5:176578567 [GRCh38] Chr5:176005568 [GRCh37] Chr5:5q35.2	uncertain significance
NM_017675.6(CDHR2):c.3415G>C (p.Gly1139Arg)	single nucleotide variant	not specified [RCV004179769]	Chr5:176590563 [GRCh38] Chr5:176017564 [GRCh37] Chr5:5q35.2	uncertain significance
NM_017675.6(CDHR2):c.186G>T (p.Met62Ile)	single nucleotide variant	not specified [RCV004196681]	Chr5:176568739 [GRCh38] Chr5:175995740 [GRCh37] Chr5:5q35.2	likely benign
NM_017675.6(CDHR2):c.1501G>A (p.Asp501Asn)	single nucleotide variant	not specified [RCV004176400]	Chr5:176577787 [GRCh38] Chr5:176004788 [GRCh37] Chr5:5q35.2	likely benign
NM_017675.6(CDHR2):c.740C>T (p.Ser247Leu)	single nucleotide variant	not specified [RCV004196405]	Chr5:176575398 [GRCh38] Chr5:176002399 [GRCh37] Chr5:5q35.2	uncertain significance
NM_017675.6(CDHR2):c.241C>G (p.Leu81Val)	single nucleotide variant	not specified [RCV004099536]	Chr5:176568794 [GRCh38] Chr5:175995795 [GRCh37] Chr5:5q35.2	uncertain significance
NM_017675.6(CDHR2):c.367G>A (p.Val123Ile)	single nucleotide variant	not specified [RCV004239240]	Chr5:176571264 [GRCh38] Chr5:175998265 [GRCh37] Chr5:5q35.2	uncertain significance
NM_017675.6(CDHR2):c.1612G>C (p.Val538Leu)	single nucleotide variant	not specified [RCV004150071]	Chr5:176578402 [GRCh38] Chr5:176005403 [GRCh37] Chr5:5q35.2	uncertain significance
NM_017675.6(CDHR2):c.2996C>T (p.Ala999Val)	single nucleotide variant	not specified [RCV004172004]	Chr5:176589170 [GRCh38] Chr5:176016171 [GRCh37] Chr5:5q35.2	uncertain significance
NM_017675.6(CDHR2):c.71C>T (p.Pro24Leu)	single nucleotide variant	not specified [RCV004174855]	Chr5:176565690 [GRCh38] Chr5:175992691 [GRCh37] Chr5:5q35.2	uncertain significance
NM_017675.6(CDHR2):c.3736G>A (p.Val1246Ile)	single nucleotide variant	not specified [RCV004258126]	Chr5:176592724 [GRCh38] Chr5:176019725 [GRCh37] Chr5:5q35.2	likely benign
NM_017675.6(CDHR2):c.3722T>G (p.Leu1241Arg)	single nucleotide variant	not specified [RCV004285178]	Chr5:176591472 [GRCh38] Chr5:176018473 [GRCh37] Chr5:5q35.2	uncertain significance
NM_017675.6(CDHR2):c.1267G>A (p.Ala423Thr)	single nucleotide variant	not specified [RCV004272568]	Chr5:176577471 [GRCh38] Chr5:176004472 [GRCh37] Chr5:5q35.2	uncertain significance
NM_017675.6(CDHR2):c.397A>C (p.Ile133Leu)	single nucleotide variant	not specified [RCV004610150]	Chr5:176571294 [GRCh38] Chr5:175998295 [GRCh37] Chr5:5q35.2	uncertain significance
NM_017675.6(CDHR2):c.3107C>A (p.Thr1036Asn)	single nucleotide variant	not specified [RCV004610160]	Chr5:176589428 [GRCh38] Chr5:176016429 [GRCh37] Chr5:5q35.2	uncertain significance
NM_017675.6(CDHR2):c.875G>T (p.Gly292Val)	single nucleotide variant	not specified [RCV004610167]	Chr5:176575754 [GRCh38] Chr5:176002755 [GRCh37] Chr5:5q35.2	uncertain significance
NM_017675.6(CDHR2):c.2110G>A (p.Val704Met)	single nucleotide variant	not specified [RCV004610169]	Chr5:176584241 [GRCh38] Chr5:176011242 [GRCh37] Chr5:5q35.2	uncertain significance
GRCh38/hg38 5q35.2-35.3(chr5:176447531-177312407)x1	copy number loss	Sotos syndrome [RCV003327703]	Chr5:176447531..177312407 [GRCh38] Chr5:5q35.2-35.3	pathogenic
NM_017675.6(CDHR2):c.664T>G (p.Ser222Ala)	single nucleotide variant	not specified [RCV004353185]	Chr5:176575322 [GRCh38] Chr5:176002323 [GRCh37] Chr5:5q35.2	uncertain significance
NM_017675.6(CDHR2):c.2161G>A (p.Ala721Thr)	single nucleotide variant	not specified [RCV004338676]	Chr5:176584442 [GRCh38] Chr5:176011443 [GRCh37] Chr5:5q35.2	uncertain significance
NM_017675.6(CDHR2):c.92C>T (p.Thr31Met)	single nucleotide variant	not provided [RCV003331489]	Chr5:176565711 [GRCh38] Chr5:175992712 [GRCh37] Chr5:5q35.2	uncertain significance
NM_017675.6(CDHR2):c.3795G>C (p.Glu1265Asp)	single nucleotide variant	not specified [RCV004365042]	Chr5:176595534 [GRCh38] Chr5:176022535 [GRCh37] Chr5:5q35.2	uncertain significance
NM_017675.6(CDHR2):c.2552G>A (p.Cys851Tyr)	single nucleotide variant	not specified [RCV004355035]	Chr5:176584833 [GRCh38] Chr5:176011834 [GRCh37] Chr5:5q35.2	uncertain significance
NM_017675.6(CDHR2):c.211G>A (p.Ala71Thr)	single nucleotide variant	not specified [RCV004337616]	Chr5:176568764 [GRCh38] Chr5:175995765 [GRCh37] Chr5:5q35.2	likely benign
NM_017675.6(CDHR2):c.3085G>A (p.Gly1029Ser)	single nucleotide variant	not specified [RCV004352505]	Chr5:176589406 [GRCh38] Chr5:176016407 [GRCh37] Chr5:5q35.2	uncertain significance
NM_017675.6(CDHR2):c.3484G>A (p.Ala1162Thr)	single nucleotide variant	not specified [RCV004348584]	Chr5:176590632 [GRCh38] Chr5:176017633 [GRCh37] Chr5:5q35.2	uncertain significance
GRCh37/hg19 5q35.1-35.2(chr5:171836503-176517734)x1	copy number loss	not provided [RCV003485492]	Chr5:171836503..176517734 [GRCh37] Chr5:5q35.1-35.2	pathogenic
GRCh37/hg19 5q35.2-35.3(chr5:175332333-177469711)x1	copy number loss	not provided [RCV003485494]	Chr5:175332333..177469711 [GRCh37] Chr5:5q35.2-35.3	pathogenic
NM_017675.6(CDHR2):c.2014G>A (p.Glu672Lys)	single nucleotide variant	not provided [RCV003430012]	Chr5:176581538 [GRCh38] Chr5:176008539 [GRCh37] Chr5:5q35.2	likely benign
NM_017675.6(CDHR2):c.2703G>A (p.Thr901=)	single nucleotide variant	not provided [RCV003430015]	Chr5:176584984 [GRCh38] Chr5:176011985 [GRCh37] Chr5:5q35.2	likely benign
NM_017675.6(CDHR2):c.249C>T (p.Ser83=)	single nucleotide variant	not provided [RCV003430009]	Chr5:176568802 [GRCh38] Chr5:175995803 [GRCh37] Chr5:5q35.2	likely benign
NM_017675.6(CDHR2):c.366C>T (p.Pro122=)	single nucleotide variant	not provided [RCV003428724]	Chr5:176571263 [GRCh38] Chr5:175998264 [GRCh37] Chr5:5q35.2	likely benign
NM_017675.6(CDHR2):c.1221G>A (p.Ser407=)	single nucleotide variant	not provided [RCV003430011]	Chr5:176577425 [GRCh38] Chr5:176004426 [GRCh37] Chr5:5q35.2	likely benign
NM_017675.6(CDHR2):c.2066A>G (p.Asn689Ser)	single nucleotide variant	not provided [RCV003430013]	Chr5:176584197 [GRCh38] Chr5:176011198 [GRCh37] Chr5:5q35.2	likely benign
Single allele	deletion	not provided [RCV003448669]	Chr5:175559209..177430432 [GRCh37] Chr5:5q35.2-35.3	pathogenic
NM_017675.6(CDHR2):c.2385C>T (p.Cys795=)	single nucleotide variant	not provided [RCV003430014]	Chr5:176584666 [GRCh38] Chr5:176011667 [GRCh37] Chr5:5q35.2	likely benign
NM_017675.6(CDHR2):c.1188G>A (p.Pro396=)	single nucleotide variant	not provided [RCV003430010]	Chr5:176576179 [GRCh38] Chr5:176003180 [GRCh37] Chr5:5q35.2	likely benign
GRCh37/hg19 5q35.2(chr5:175822822-176520008)x1	copy number loss	not specified [RCV003986588]	Chr5:175822822..176520008 [GRCh37] Chr5:5q35.2	uncertain significance
NM_017675.6(CDHR2):c.3916G>C (p.Asp1306His)	single nucleotide variant	not specified [RCV004428235]	Chr5:176595655 [GRCh38] Chr5:176022656 [GRCh37] Chr5:5q35.2	uncertain significance
NM_017675.6(CDHR2):c.1297G>A (p.Val433Met)	single nucleotide variant	not specified [RCV004428214]	Chr5:176577501 [GRCh38] Chr5:176004502 [GRCh37] Chr5:5q35.2	uncertain significance
NM_017675.6(CDHR2):c.2501C>T (p.Ser834Leu)	single nucleotide variant	not specified [RCV004428224]	Chr5:176584782 [GRCh38] Chr5:176011783 [GRCh37] Chr5:5q35.2	uncertain significance
NM_017675.6(CDHR2):c.2824G>A (p.Val942Met)	single nucleotide variant	not specified [RCV004428226]	Chr5:176586810 [GRCh38] Chr5:176013811 [GRCh37] Chr5:5q35.2	uncertain significance
NM_017675.6(CDHR2):c.1966G>A (p.Ala656Thr)	single nucleotide variant	not specified [RCV004428218]	Chr5:176581490 [GRCh38] Chr5:176008491 [GRCh37] Chr5:5q35.2	uncertain significance
NM_017675.6(CDHR2):c.2279T>C (p.Leu760Pro)	single nucleotide variant	not specified [RCV004428220]	Chr5:176584560 [GRCh38] Chr5:176011561 [GRCh37] Chr5:5q35.2	uncertain significance
NM_017675.6(CDHR2):c.2305G>A (p.Glu769Lys)	single nucleotide variant	not specified [RCV004428222]	Chr5:176584586 [GRCh38] Chr5:176011587 [GRCh37] Chr5:5q35.2	uncertain significance
NM_017675.6(CDHR2):c.3532C>T (p.Arg1178Trp)	single nucleotide variant	not specified [RCV004428232]	Chr5:176590680 [GRCh38] Chr5:176017681 [GRCh37] Chr5:5q35.2	uncertain significance
NM_017675.6(CDHR2):c.1096G>A (p.Glu366Lys)	single nucleotide variant	not specified [RCV004428212]	Chr5:176576087 [GRCh38] Chr5:176003088 [GRCh37] Chr5:5q35.2	uncertain significance
NM_017675.6(CDHR2):c.1726C>G (p.Leu576Val)	single nucleotide variant	not specified [RCV004428217]	Chr5:176578516 [GRCh38] Chr5:176005517 [GRCh37] Chr5:5q35.2	uncertain significance
NM_017675.6(CDHR2):c.2989G>A (p.Val997Met)	single nucleotide variant	not specified [RCV004428229]	Chr5:176589163 [GRCh38] Chr5:176016164 [GRCh37] Chr5:5q35.2	uncertain significance
NM_017675.6(CDHR2):c.491A>T (p.Glu164Val)	single nucleotide variant	not specified [RCV004428236]	Chr5:176574168 [GRCh38] Chr5:176001169 [GRCh37] Chr5:5q35.2	uncertain significance
GRCh37/hg19 5q35.2-35.3(chr5:175470000-177450000)x1	copy number loss	not provided [RCV004577486]	Chr5:175470000..177450000 [GRCh37] Chr5:5q35.2-35.3	pathogenic
NM_017675.6(CDHR2):c.1126G>A (p.Val376Met)	single nucleotide variant	not specified [RCV004428213]	Chr5:176576117 [GRCh38] Chr5:176003118 [GRCh37] Chr5:5q35.2	uncertain significance
NM_017675.6(CDHR2):c.3380T>C (p.Leu1127Pro)	single nucleotide variant	not specified [RCV004428230]	Chr5:176590451 [GRCh38] Chr5:176017452 [GRCh37] Chr5:5q35.2	uncertain significance
NM_017675.6(CDHR2):c.881A>T (p.Asp294Val)	single nucleotide variant	not specified [RCV004428237]	Chr5:176575760 [GRCh38] Chr5:176002761 [GRCh37] Chr5:5q35.2	uncertain significance
NM_017675.6(CDHR2):c.2761G>A (p.Val921Met)	single nucleotide variant	not specified [RCV004428225]	Chr5:176585980 [GRCh38] Chr5:176012981 [GRCh37] Chr5:5q35.2	uncertain significance
NM_017675.6(CDHR2):c.2914G>C (p.Asp972His)	single nucleotide variant	not specified [RCV004428227]	Chr5:176589088 [GRCh38] Chr5:176016089 [GRCh37] Chr5:5q35.2	uncertain significance
NM_017675.6(CDHR2):c.3859C>T (p.Arg1287Trp)	single nucleotide variant	not specified [RCV004428234]	Chr5:176595598 [GRCh38] Chr5:176022599 [GRCh37] Chr5:5q35.2	uncertain significance
NM_017675.6(CDHR2):c.914G>C (p.Arg305Pro)	single nucleotide variant	not specified [RCV004428238]	Chr5:176575793 [GRCh38] Chr5:176002794 [GRCh37] Chr5:5q35.2	uncertain significance
NM_017675.6(CDHR2):c.2194T>G (p.Phe732Val)	single nucleotide variant	not specified [RCV004428219]	Chr5:176584475 [GRCh38] Chr5:176011476 [GRCh37] Chr5:5q35.2	uncertain significance
NM_017675.6(CDHR2):c.3426G>C (p.Glu1142Asp)	single nucleotide variant	not specified [RCV004428231]	Chr5:176590574 [GRCh38] Chr5:176017575 [GRCh37] Chr5:5q35.2	uncertain significance
NM_017675.6(CDHR2):c.1436C>T (p.Thr479Met)	single nucleotide variant	not specified [RCV004428215]	Chr5:176577722 [GRCh38] Chr5:176004723 [GRCh37] Chr5:5q35.2	uncertain significance
NM_017675.6(CDHR2):c.169C>T (p.Pro57Ser)	single nucleotide variant	not specified [RCV004428216]	Chr5:176568722 [GRCh38] Chr5:175995723 [GRCh37] Chr5:5q35.2	uncertain significance
NM_017675.6(CDHR2):c.2449C>T (p.Arg817Cys)	single nucleotide variant	not specified [RCV004428223]	Chr5:176584730 [GRCh38] Chr5:176011731 [GRCh37] Chr5:5q35.2	uncertain significance
NM_017675.6(CDHR2):c.2518G>A (p.Ala840Thr)	single nucleotide variant	not specified [RCV004610153]	Chr5:176584799 [GRCh38] Chr5:176011800 [GRCh37] Chr5:5q35.2	uncertain significance
NM_017675.6(CDHR2):c.988G>A (p.Gly330Arg)	single nucleotide variant	not specified [RCV004610158]	Chr5:176575979 [GRCh38] Chr5:176002980 [GRCh37] Chr5:5q35.2	uncertain significance
NM_017675.6(CDHR2):c.2213G>C (p.Gly738Ala)	single nucleotide variant	not specified [RCV004610162]	Chr5:176584494 [GRCh38] Chr5:176011495 [GRCh37] Chr5:5q35.2	uncertain significance
NM_017675.6(CDHR2):c.2980G>A (p.Glu994Lys)	single nucleotide variant	not specified [RCV004610163]	Chr5:176589154 [GRCh38] Chr5:176016155 [GRCh37] Chr5:5q35.2	uncertain significance
NM_017675.6(CDHR2):c.884G>C (p.Gly295Ala)	single nucleotide variant	not specified [RCV004610149]	Chr5:176575763 [GRCh38] Chr5:176002764 [GRCh37] Chr5:5q35.2	uncertain significance
NM_017675.6(CDHR2):c.1298T>G (p.Val433Gly)	single nucleotide variant	not specified [RCV004610152]	Chr5:176577502 [GRCh38] Chr5:176004503 [GRCh37] Chr5:5q35.2	uncertain significance
NM_017675.6(CDHR2):c.2122G>A (p.Asp708Asn)	single nucleotide variant	not specified [RCV004610171]	Chr5:176584253 [GRCh38] Chr5:176011254 [GRCh37] Chr5:5q35.2	uncertain significance
GRCh37/hg19 5q35.2-35.3(chr5:175570678-177414568)x3	copy number gain	not provided [RCV004819302]	Chr5:175570678..177414568 [GRCh37] Chr5:5q35.2-35.3	pathogenic
NM_017675.6(CDHR2):c.1147C>T (p.Arg383Cys)	single nucleotide variant	not specified [RCV004903786]	Chr5:176576138 [GRCh38] Chr5:176003139 [GRCh37] Chr5:5q35.2	uncertain significance
NM_017675.6(CDHR2):c.2753T>C (p.Ile918Thr)	single nucleotide variant	not specified [RCV004903787]	Chr5:176585972 [GRCh38] Chr5:176012973 [GRCh37] Chr5:5q35.2	uncertain significance
NM_017675.6(CDHR2):c.1869C>A (p.Asn623Lys)	single nucleotide variant	not specified [RCV004903788]	Chr5:176581393 [GRCh38] Chr5:176008394 [GRCh37] Chr5:5q35.2	uncertain significance
NM_017675.6(CDHR2):c.1369G>C (p.Val457Leu)	single nucleotide variant	not specified [RCV004903789]	Chr5:176577655 [GRCh38] Chr5:176004656 [GRCh37] Chr5:5q35.2	uncertain significance
NM_017675.6(CDHR2):c.3740A>G (p.Asn1247Ser)	single nucleotide variant	not specified [RCV004903790]	Chr5:176592728 [GRCh38] Chr5:176019729 [GRCh37] Chr5:5q35.2	uncertain significance
NM_017675.6(CDHR2):c.2916C>A (p.Asp972Glu)	single nucleotide variant	not specified [RCV004903791]	Chr5:176589090 [GRCh38] Chr5:176016091 [GRCh37] Chr5:5q35.2	uncertain significance
NM_017675.6(CDHR2):c.2866G>T (p.Asp956Tyr)	single nucleotide variant	not specified [RCV004903792]	Chr5:176589040 [GRCh38] Chr5:176016041 [GRCh37] Chr5:5q35.2	uncertain significance
NM_017675.6(CDHR2):c.2333T>G (p.Val778Gly)	single nucleotide variant	not specified [RCV004903793]	Chr5:176584614 [GRCh38] Chr5:176011615 [GRCh37] Chr5:5q35.2	uncertain significance
NM_017675.6(CDHR2):c.1265G>A (p.Arg422Gln)	single nucleotide variant	not specified [RCV004903794]	Chr5:176577469 [GRCh38] Chr5:176004470 [GRCh37] Chr5:5q35.2	uncertain significance
NM_017675.6(CDHR2):c.3281G>A (p.Arg1094Gln)	single nucleotide variant	not specified [RCV004903772]	Chr5:176590258 [GRCh38] Chr5:176017259 [GRCh37] Chr5:5q35.2	uncertain significance
NM_017675.6(CDHR2):c.1486G>C (p.Gly496Arg)	single nucleotide variant	not specified [RCV004903773]	Chr5:176577772 [GRCh38] Chr5:176004773 [GRCh37] Chr5:5q35.2	uncertain significance
NM_017675.6(CDHR2):c.724G>T (p.Val242Phe)	single nucleotide variant	not specified [RCV004903774]	Chr5:176575382 [GRCh38] Chr5:176002383 [GRCh37] Chr5:5q35.2	uncertain significance
NM_017675.6(CDHR2):c.3497T>C (p.Val1166Ala)	single nucleotide variant	not specified [RCV004903776]	Chr5:176590645 [GRCh38] Chr5:176017646 [GRCh37] Chr5:5q35.2	uncertain significance
NM_017675.6(CDHR2):c.415G>A (p.Val139Met)	single nucleotide variant	not specified [RCV004903777]	Chr5:176574092 [GRCh38] Chr5:176001093 [GRCh37] Chr5:5q35.2	uncertain significance
NM_017675.6(CDHR2):c.1234G>A (p.Asp412Asn)	single nucleotide variant	not specified [RCV004903778]	Chr5:176577438 [GRCh38] Chr5:176004439 [GRCh37] Chr5:5q35.2	uncertain significance
NM_017675.6(CDHR2):c.295G>T (p.Val99Leu)	single nucleotide variant	not specified [RCV004903779]	Chr5:176568990 [GRCh38] Chr5:175995991 [GRCh37] Chr5:5q35.2	uncertain significance
NM_017675.6(CDHR2):c.851C>T (p.Thr284Met)	single nucleotide variant	not specified [RCV004903780]	Chr5:176575730 [GRCh38] Chr5:176002731 [GRCh37] Chr5:5q35.2	uncertain significance
NM_017675.6(CDHR2):c.3547C>T (p.Arg1183Trp)	single nucleotide variant	not specified [RCV004903781]	Chr5:176591217 [GRCh38] Chr5:176018218 [GRCh37] Chr5:5q35.2	uncertain significance
NM_017675.6(CDHR2):c.1670C>T (p.Thr557Met)	single nucleotide variant	not specified [RCV004903782]	Chr5:176578460 [GRCh38] Chr5:176005461 [GRCh37] Chr5:5q35.2	uncertain significance
NM_017675.6(CDHR2):c.766A>G (p.Lys256Glu)	single nucleotide variant	not specified [RCV004903783]	Chr5:176575424 [GRCh38] Chr5:176002425 [GRCh37] Chr5:5q35.2	uncertain significance
NM_017675.6(CDHR2):c.2683C>T (p.Arg895Trp)	single nucleotide variant	not specified [RCV004903784]	Chr5:176584964 [GRCh38] Chr5:176011965 [GRCh37] Chr5:5q35.2	uncertain significance

miRNA Target Status (No longer updated)

Predicted Target Of

	Summary Value
Count of predictions:	1958
Count of miRNA genes:	724
Interacting mature miRNAs:	871
Transcripts:	ENST00000261944, ENST00000416365, ENST00000506348, ENST00000508085, ENST00000510124, ENST00000510636, ENST00000513031
Prediction methods:	Microtar, Miranda, Rnahybrid, Targetscan
Result types:	miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.

QTLs in Region (GRCh38)

The following QTLs overlap with this region.

RGD ID	Symbol	Name	LOD	P Value	Trait	Sub Trait	Chr	Start	Stop	Species
2289409	BW320_H	Body weight QTL 320 (human)	3.5	0.0002	Body weight	lean mass	5	160925164	181538259	Human

Markers in Region

RH48053

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	5	175,998,245 - 175,998,407	UniSTS	GRCh37
Build 36	5	175,930,851 - 175,931,013	RGD	NCBI36
Celera	5	173,046,738 - 173,046,900	UniSTS
Celera	5	172,502,718 - 172,502,880	RGD
Cytogenetic Map	5	q35.2	UniSTS
HuRef	5	170,922,056 - 170,922,218	UniSTS
GeneMap99-GB4 RH Map	5	644.61	UniSTS

SGC33786

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	5	176,022,661 - 176,022,762	UniSTS	GRCh37
Build 36	5	175,955,267 - 175,955,368	RGD	NCBI36
Celera	5	172,478,096 - 172,478,197	RGD
Cytogenetic Map	5	q35.2	UniSTS
HuRef	5	170,946,934 - 170,947,035	UniSTS
GeneMap99-GB4 RH Map	5	644.61	UniSTS
Whitehead-RH Map	5	539.8	UniSTS

RH35970

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	5	176,022,588 - 176,022,719	UniSTS	GRCh37
Build 36	5	175,955,194 - 175,955,325	RGD	NCBI36
Celera	5	172,478,139 - 172,478,270	RGD
Cytogenetic Map	5	q35.2	UniSTS
HuRef	5	170,946,861 - 170,946,992	UniSTS
GeneMap99-GB4 RH Map	5	644.31	UniSTS
NCBI RH Map	5	973.0	UniSTS

SHGC-76867

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	5	175,990,020 - 175,990,472	UniSTS	GRCh37
GRCh37	3	41,895,087 - 41,895,226	UniSTS	GRCh37
Build 36	3	41,870,091 - 41,870,230	RGD	NCBI36
Celera	3	41,835,499 - 41,835,638	RGD
Cytogenetic Map	3	p22.1	UniSTS
Cytogenetic Map	5	q35.2	UniSTS
HuRef	3	41,939,415 - 41,939,554	UniSTS
GeneMap99-GB4 RH Map	3	141.82	UniSTS
Whitehead-RH Map	3	166.5	UniSTS

RH77998

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	5	176,023,094 - 176,023,229	UniSTS	GRCh37
Build 36	5	175,955,700 - 175,955,835	RGD	NCBI36
Cytogenetic Map	5	q35.2	UniSTS
GeneMap99-GB4 RH Map	5	644.61	UniSTS

D1S3697

Human Assembly	Chr	Position (strand)	Source
Cytogenetic Map	1	q12	UniSTS
Cytogenetic Map	9	q31-q33	UniSTS
Cytogenetic Map	3	p21.31-p21.2	UniSTS
Cytogenetic Map	8	p23.1	UniSTS
Cytogenetic Map	5	q35.2	UniSTS
Cytogenetic Map	10	q24	UniSTS
Cytogenetic Map	17	q21.32	UniSTS
Cytogenetic Map	1	q41	UniSTS
Cytogenetic Map	9	q34.3	UniSTS
Cytogenetic Map	6	q25	UniSTS
Cytogenetic Map	17	q25	UniSTS
Cytogenetic Map	2	p13	UniSTS
Cytogenetic Map	2	q24.1	UniSTS
Cytogenetic Map	1	p36.13	UniSTS

Expression

RNA-SEQ Expression

Click on a value in the shaded box below the category label to view a detailed expression data table for that system.

Download All Expressed Objects for this Gene

adipose tissue	alimentary part of gastrointestinal system	appendage	circulatory system	ectoderm	endocrine system	endoderm	entire extraembryonic component	exocrine system	hemolymphoid system	hepatobiliary system	integumental system	mesenchyme	mesoderm	musculoskeletal system	nervous system	renal system	reproductive system	respiratory system	sensory system
1134	2407	2532	1960	4898	1683	2280	1	617	1831	459	2199	6731	5952	36	3676	823	1701	1560	170

Sequence

Nucleotide Sequences


RefSeq Transcripts	NM_001171976	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_017675	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
GenBank Nucleotide	AA130780	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AB047004	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AC091934	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK000131	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK000390	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK225217	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK315055	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC130282	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BP271197	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BX478954	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CH471195	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CP068273	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	KF458067	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles

Ensembl Acc Id:

ENST00000261944 ⟹ ENSP00000261944

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	5	176,549,342 - 176,595,824 (+)	Ensembl

Ensembl Acc Id:

ENST00000416365

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	5	176,590,601 - 176,591,690 (+)	Ensembl

Ensembl Acc Id:

ENST00000506348 ⟹ ENSP00000421078

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	5	176,565,306 - 176,595,697 (+)	Ensembl

Ensembl Acc Id:

ENST00000508085

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	5	176,586,659 - 176,589,570 (+)	Ensembl

Ensembl Acc Id:

ENST00000510124 ⟹ ENSP00000426838

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	5	176,543,541 - 176,568,767 (+)	Ensembl

Ensembl Acc Id:

ENST00000510636 ⟹ ENSP00000424565

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	5	176,542,511 - 176,595,974 (+)	Ensembl

Ensembl Acc Id:

ENST00000513031

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	5	176,586,651 - 176,590,661 (+)	Ensembl

RefSeq Acc Id:

NM_001171976 ⟹ NP_001165447

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	5	176,542,511 - 176,595,974 (+)	NCBI
GRCh37	5	175,969,512 - 176,022,769 (+)	RGD
Celera	5	172,478,089 - 172,531,637 (-)	RGD
HuRef	5	170,893,401 - 170,947,042 (+)	ENTREZGENE
CHM1_1	5	175,402,210 - 175,455,196 (+)	NCBI
T2T-CHM13v2.0	5	177,087,074 - 177,142,566 (+)	NCBI

Sequence:

show sequence

AAAGGGGGCAGGAACCGTCACATTGTTCAGTGATGAAAACCGAGGGCTGCAGGAGTGCGGACCC
TGGAAGATCGAGGAAGACAAGTCTACCCGAATCCCCCACTGTCCCTCCATCTTACTCGTCCTCC
TTCCCTCACTTCCCAGCCCCCGGCACCAGCTCGACTCGAGCTTAGTGGCTTTCAGGCAACGGAA
GCTGTGTGACCTTGGGCAAGACACGGACTCTCTCCGGACCCCGCAGCGTTCCGACATCCAGAAT
GCAGTCCCTGCGGATGTGATGGCCCAGCTATGGCTGTCCTGCTTCCTCCTTCCTGCCCTCGTGG
TGTCTGTGGCAGCCAACGTGGCCCCGAAGTTCCTAGCCAACATGACGTCAGTGATCCTGCCTGA
GGACCTGCCTGTGGGTGCCCAGGCCTTCTGGTTGGTAGCGGAAGACCAGGACAATGACCCTCTG
ACCTATGGGATGAGCGGCCCCAATGCCTACTTCTTCGCTGTCACTCCGAAAACTGGGGAAGTGA
AGCTGGCCAGCGCTCTGGACTACGAGACACTCTACACATTCAAAGTCACCATCTCCGTGAGCGA
CCCCTACATCCAGGTGCAGAGGGAGATGCTGGTGATTGTGGAAGATAGAAACGACAACGCACCC
GTTTTCCAGAACACCGCTTTCTCCACCAGCATCAACGAGACCCTGCCCGTGGGCAGTGTGGTGT
TCTCCGTGCTGGCCGTGGATAAAGACATGGGGTCTGCAGGCATGGTCGTGTACTCCATAGAGAA
GGTCATCCCTAGCACTGGGGACAGCGAGCATCTCTTCCGGATCCTGGCCAATGGCTCCATAGTC
CTCAATGGCAGCCTCAGCTACAACAACAAGAGCGCTTTCTACCAGCTGGAGCTGAAGGCCTGTG
ACTTGGGCGGCATGTACCACAACACCTTCACCATCCAGTGCTCCCTGCCTGTCTTCCTGTCCAT
CTCCGTGGTGGACCAGCCTGACCTTGACCCCCAGTTTGTCAGGGAGTTTTACTCGGCCTCTGTG
GCTGAGGATGCAGCCAAGGGAACCTCGGTGCTGACGGTGGAGGCTGTGGATGGCGACAAAGGCA
TCAATGACCCTGTGATCTACAGCATCTCCTACTCCACGCGGCCCGGCTGGTTTGACATCGGGGC
AGATGGGGTGATCAGGGTCAACGGCTCCCTGGACCGTGAGCAGCTGCTGGAGGCGGATGAGGAG
GTGCAGCTGCAGGTCACGGCCACCGAGACACACCTCAACATCTACGGGCAGGAGGCCAAGGTGA
GCATCTGGGTGACAGTGAGAGTGATGGACGTCAATGACCACAAACCTGAGTTTTACAACTGCAG
CCTCCCAGCCTGCACCTTCACCCCCGAAGAGGCCCAAGTGAACTTCACTGGCTACGTGGACGAG
CATGCCTCCCCCCGCATCCCCATCGATGACCTCACCATGGTGGTCTACGACCCGGACAAGGGCA
GCAATGGCACCTTCCTGTTGTCGCTGGGGGGCCCCGATGCAGAAGCCTTCAGCGTCTCCCCGGA
GCGGGCAGTGGGCTCAGCCTCCGTTCAGGTGCTGGTGAGAGTATCCGCGCTGGTGGACTACGAG
AGGCAGACGGCGATGGCGGTGCAGGTTGTGGCCACAGACTCCGTCAGCCAGAACTTCTCCGTCG
CCATGGTGACCATCCACCTTAGAGACATTAATGACCACAGGCCCACGTTTCCCCAGAGCTTGTA
CGTCCTCACGGTGCCAGAGCACAGCGCCACCGGCTCTGTGGTCACCGACAGCATCCACGCCACG
GACCCAGACACGGGCGCGTGGGGCCAAATTACCTACAGCCTGCTCCCAGGAAATGGGGCAGACC
TCTTCCAAGTGGATCCCGTCTCAGGGACGGTGACGGTGAGGAACGGTGAGCTGCTGGACCGGGA
GAGCCAGGCCGTGTACTACCTGACGCTGCAGGCCACAGACGGCGGGAACCTGTCCTCCTCCACC
ACACTGCAGATCCACCTGCTGGACATCAACGACAATGCACCCGTGGTTAGCGGCTCCTACAACA
TCTTCGTCCAGGAGGAGGAGGGCAATGTCTCCGTGACCATCCAGGCCCACGACAATGATGAGCC
GGGCACCAACAACAGCCGTCTGCTCTTCAACCTGCTGCCTGGCCCCTACAGCCACAACTTCTCC
TTGGACCCTGACACAGGGCTCCTCAGAAACCTGGGGCCCCTGGACAGAGAGGCCATCGACCCCG
CCCTGGAGGGCCGCATTGTGCTGACAGTGCTTGTGTCTGACTGCGGCGAGCCTGTCCTCGGCAC
CAAAGTCAATGTCACCATCACTGTGGAGGACATCAATGATAACCTGCCCATCTTCAATCAGTCC
AGCTACAACTTTACGGTGAAGGAGGAGGATCCAGGAGTGCTAGTGGGCGTGGTGAAGGCCTGGG
ACGCGGACCAGACGGAAGCCAACAACCGCATCAGCTTCAGCCTGTCGGGGAGTGGTGCCAACTA
CTTCATGATCCGAGGCTTGGTGCTGGGGGCTGGGTGGGCTGAGGGCTACCTCCGGCTGCCCCCG
GACGTGAGCCTGGATTACGAGACACAGCCCGTCTTCAACTTGACAGTGAGTGCTGAGAACCCAG
ACCCCCAGGGGGGTGAGACCATAGTAGACGTCTGCGTGAATGTGAAAGACGTGAACGACAATCC
CCCCACCCTGGATGTAGCCTCACTCCGGGGCATCCGTGTGGCTGAGAATGGCTCACAGCACGGC
CAGGTGGCTGTGGTGGTTGCCTCGGATGTGGACACCAGTGCCCAGCTGGAGATACAGCTTGTGA
ACATTCTCTGCACCAAGGCCGGGGTCGATGTGGGCAGCCTATGCTGGGGCTGGTTCTCAGTGGC
GGCCAACGGCTCTGTGTACATCAACCAGAGCAAAGCCATCGACTACGAGGCCTGTGACCTGGTC
ACGCTGGTTGTGCGGGCCTGTGACCTAGCCACGGACCCCGGCTTCCAGGCCTACAGCAACAATG
GAAGCCTCCTCATTACCATTGAGGACGTGAATGACAATGCACCCTATTTTCTGCCTGAGAATAA
GACTTTTGTGATCATCCCTGAACTCGTGCTGCCCAACCGGGAGGTGGCTTCTGTCCGGGCCAGA
GACGATGATTCAGGGAACAATGGCGTCATCCTGTTCTCCATCCTCCGAGTAGACTTCATCTCTA
AGGACGGGGCCACCATCCCTTTCCAGGGTGTCTTCTCGATCTTCACCTCCTCCGAGGCCGACGT
GTTCGCTGGGAGCATTCAGCCGGTGACCAGCCTCGACTCCACTCTCCAAGGCACCTACCAAGTG
ACAGTCCAGGCCAGGGACAGACCTTCCTTGGGTCCTTTCCTGGAAGCCACCACCACCCTGAATC
TCTTCACCGTGGACCAGAGTTACCGCTCGCGGCTGCAGTTCTCCACACCGAAGGAGGAGGTGGG
CGCCAACAGACAGGCGATTAATGCGGCTCTTACCCAGGCAACCAGGACTACAGTATACATTGTG
GACATTCAGGACATAGATTCTGCAGCTCGGGCCCGACCTCACTCCTACCTCGATGCCTACTTTG
TCTTCCCCAATGGGTCAGCCCTGACCCTTGATGAGCTGAGTGTGATGATCCGGAATGATCAGGA
CTCGCTGACGCAGCTGCTGCAGCTGGGGCTGGTGGTGCTGGGCTCCCAGGAGAGCCAGGAGTCA
GACCTGTCGAAACAGCTCATCAGTGTCATCATAGGATTGGGAGTGGCTTTGCTGCTGGTCCTTG
TGATCATGACCATGGCCTTCGTGTGTGTGCGGAAGAGCTACAACCGGAAGCTTCAAGCTATGAA
GGCTGCCAAGGAGGCCAGGAAGACAGCAGCAGGGGTGATGCCCTCAGCCCCTGCCATCCCAGGG
ACTAACATGTACAACACTGAGCGAGCCAACCCCATGCTGAACCTCCCCAACAAAGACCTGGGCT
TGGAGTACCTCTCTCCCTCCAATGACCTGGACTCTGTCAGCGTCAACTCCCTGGACGACAACTC
TGTGGATGTGGACAAGAACAGTCAGGAAATCAAGGAGCACAGGCCACCACACACACCACCAGAG
CCAGATCCAGAGCCCCTGAGCGTGGTCCTGTTAGGACGGCAGGCAGGCGCAAGTGGACAGCTGG
AGGGGCCATCCTACACCAACGCTGGCCTGGACACCACGGACCTGTGACAGGGGCCCCCACTCTT
CTGGACCCCTTGAAGAGGCCCTACCACACCCTAACTGCACCTGTCTCCCTGGAGATGAAAATAT
ATGACGCTGCCCTGCCTCCTGCTTTTGGCCAATCACGGCAGACAGGGGTTGGGGAAATATTTTA
TTACCAATGTATACTGTGACAGTTTGTAGCCAAAAACTGCGGCTGGAGGGGTGGGGACGGGACA
CTGAGTGGTCACAAGGGACTTGGGCTCACAGCACAGGGGGGACAAGGGGCTGGAGAGGGTGGCC
TTTAAAAGACAACTGTGGTTATAGAATGA

hide sequence

RefSeq Acc Id:

NM_017675 ⟹ NP_060145

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	5	176,549,342 - 176,595,824 (+)	NCBI
GRCh37	5	175,969,512 - 176,022,769 (+)	RGD
Build 36	5	175,908,971 - 175,955,375 (+)	NCBI Archive
Celera	5	172,478,089 - 172,531,637 (-)	RGD
HuRef	5	170,893,401 - 170,947,042 (+)	ENTREZGENE
CHM1_1	5	175,409,062 - 175,455,196 (+)	NCBI
T2T-CHM13v2.0	5	177,093,925 - 177,142,416 (+)	NCBI

Sequence:

show sequence

GCAGAGGGTGCCCACCTGTGTGCCAGCGCCTGTCCGGCGCCTGCCTGCCGCCTCCGTGGCGAAG
GGGACACAGGTCCCTGCGGATGTGATGGCCCAGCTATGGCTGTCCTGCTTCCTCCTTCCTGCCC
TCGTGGTGTCTGTGGCAGCCAACGTGGCCCCGAAGTTCCTAGCCAACATGACGTCAGTGATCCT
GCCTGAGGACCTGCCTGTGGGTGCCCAGGCCTTCTGGTTGGTAGCGGAAGACCAGGACAATGAC
CCTCTGACCTATGGGATGAGCGGCCCCAATGCCTACTTCTTCGCTGTCACTCCGAAAACTGGGG
AAGTGAAGCTGGCCAGCGCTCTGGACTACGAGACACTCTACACATTCAAAGTCACCATCTCCGT
GAGCGACCCCTACATCCAGGTGCAGAGGGAGATGCTGGTGATTGTGGAAGATAGAAACGACAAC
GCACCCGTTTTCCAGAACACCGCTTTCTCCACCAGCATCAACGAGACCCTGCCCGTGGGCAGTG
TGGTGTTCTCCGTGCTGGCCGTGGATAAAGACATGGGGTCTGCAGGCATGGTCGTGTACTCCAT
AGAGAAGGTCATCCCTAGCACTGGGGACAGCGAGCATCTCTTCCGGATCCTGGCCAATGGCTCC
ATAGTCCTCAATGGCAGCCTCAGCTACAACAACAAGAGCGCTTTCTACCAGCTGGAGCTGAAGG
CCTGTGACTTGGGCGGCATGTACCACAACACCTTCACCATCCAGTGCTCCCTGCCTGTCTTCCT
GTCCATCTCCGTGGTGGACCAGCCTGACCTTGACCCCCAGTTTGTCAGGGAGTTTTACTCGGCC
TCTGTGGCTGAGGATGCAGCCAAGGGAACCTCGGTGCTGACGGTGGAGGCTGTGGATGGCGACA
AAGGCATCAATGACCCTGTGATCTACAGCATCTCCTACTCCACGCGGCCCGGCTGGTTTGACAT
CGGGGCAGATGGGGTGATCAGGGTCAACGGCTCCCTGGACCGTGAGCAGCTGCTGGAGGCGGAT
GAGGAGGTGCAGCTGCAGGTCACGGCCACCGAGACACACCTCAACATCTACGGGCAGGAGGCCA
AGGTGAGCATCTGGGTGACAGTGAGAGTGATGGACGTCAATGACCACAAACCTGAGTTTTACAA
CTGCAGCCTCCCAGCCTGCACCTTCACCCCCGAAGAGGCCCAAGTGAACTTCACTGGCTACGTG
GACGAGCATGCCTCCCCCCGCATCCCCATCGATGACCTCACCATGGTGGTCTACGACCCGGACA
AGGGCAGCAATGGCACCTTCCTGTTGTCGCTGGGGGGCCCCGATGCAGAAGCCTTCAGCGTCTC
CCCGGAGCGGGCAGTGGGCTCAGCCTCCGTTCAGGTGCTGGTGAGAGTATCCGCGCTGGTGGAC
TACGAGAGGCAGACGGCGATGGCGGTGCAGGTTGTGGCCACAGACTCCGTCAGCCAGAACTTCT
CCGTCGCCATGGTGACCATCCACCTTAGAGACATTAATGACCACAGGCCCACGTTTCCCCAGAG
CTTGTACGTCCTCACGGTGCCAGAGCACAGCGCCACCGGCTCTGTGGTCACCGACAGCATCCAC
GCCACGGACCCAGACACGGGCGCGTGGGGCCAAATTACCTACAGCCTGCTCCCAGGAAATGGGG
CAGACCTCTTCCAAGTGGATCCCGTCTCAGGGACGGTGACGGTGAGGAACGGTGAGCTGCTGGA
CCGGGAGAGCCAGGCCGTGTACTACCTGACGCTGCAGGCCACAGACGGCGGGAACCTGTCCTCC
TCCACCACACTGCAGATCCACCTGCTGGACATCAACGACAATGCACCCGTGGTTAGCGGCTCCT
ACAACATCTTCGTCCAGGAGGAGGAGGGCAATGTCTCCGTGACCATCCAGGCCCACGACAATGA
TGAGCCGGGCACCAACAACAGCCGTCTGCTCTTCAACCTGCTGCCTGGCCCCTACAGCCACAAC
TTCTCCTTGGACCCTGACACAGGGCTCCTCAGAAACCTGGGGCCCCTGGACAGAGAGGCCATCG
ACCCCGCCCTGGAGGGCCGCATTGTGCTGACAGTGCTTGTGTCTGACTGCGGCGAGCCTGTCCT
CGGCACCAAAGTCAATGTCACCATCACTGTGGAGGACATCAATGATAACCTGCCCATCTTCAAT
CAGTCCAGCTACAACTTTACGGTGAAGGAGGAGGATCCAGGAGTGCTAGTGGGCGTGGTGAAGG
CCTGGGACGCGGACCAGACGGAAGCCAACAACCGCATCAGCTTCAGCCTGTCGGGGAGTGGTGC
CAACTACTTCATGATCCGAGGCTTGGTGCTGGGGGCTGGGTGGGCTGAGGGCTACCTCCGGCTG
CCCCCGGACGTGAGCCTGGATTACGAGACACAGCCCGTCTTCAACTTGACAGTGAGTGCTGAGA
ACCCAGACCCCCAGGGGGGTGAGACCATAGTAGACGTCTGCGTGAATGTGAAAGACGTGAACGA
CAATCCCCCCACCCTGGATGTAGCCTCACTCCGGGGCATCCGTGTGGCTGAGAATGGCTCACAG
CACGGCCAGGTGGCTGTGGTGGTTGCCTCGGATGTGGACACCAGTGCCCAGCTGGAGATACAGC
TTGTGAACATTCTCTGCACCAAGGCCGGGGTCGATGTGGGCAGCCTATGCTGGGGCTGGTTCTC
AGTGGCGGCCAACGGCTCTGTGTACATCAACCAGAGCAAAGCCATCGACTACGAGGCCTGTGAC
CTGGTCACGCTGGTTGTGCGGGCCTGTGACCTAGCCACGGACCCCGGCTTCCAGGCCTACAGCA
ACAATGGAAGCCTCCTCATTACCATTGAGGACGTGAATGACAATGCACCCTATTTTCTGCCTGA
GAATAAGACTTTTGTGATCATCCCTGAACTCGTGCTGCCCAACCGGGAGGTGGCTTCTGTCCGG
GCCAGAGACGATGATTCAGGGAACAATGGCGTCATCCTGTTCTCCATCCTCCGAGTAGACTTCA
TCTCTAAGGACGGGGCCACCATCCCTTTCCAGGGTGTCTTCTCGATCTTCACCTCCTCCGAGGC
CGACGTGTTCGCTGGGAGCATTCAGCCGGTGACCAGCCTCGACTCCACTCTCCAAGGCACCTAC
CAAGTGACAGTCCAGGCCAGGGACAGACCTTCCTTGGGTCCTTTCCTGGAAGCCACCACCACCC
TGAATCTCTTCACCGTGGACCAGAGTTACCGCTCGCGGCTGCAGTTCTCCACACCGAAGGAGGA
GGTGGGCGCCAACAGACAGGCGATTAATGCGGCTCTTACCCAGGCAACCAGGACTACAGTATAC
ATTGTGGACATTCAGGACATAGATTCTGCAGCTCGGGCCCGACCTCACTCCTACCTCGATGCCT
ACTTTGTCTTCCCCAATGGGTCAGCCCTGACCCTTGATGAGCTGAGTGTGATGATCCGGAATGA
TCAGGACTCGCTGACGCAGCTGCTGCAGCTGGGGCTGGTGGTGCTGGGCTCCCAGGAGAGCCAG
GAGTCAGACCTGTCGAAACAGCTCATCAGTGTCATCATAGGATTGGGAGTGGCTTTGCTGCTGG
TCCTTGTGATCATGACCATGGCCTTCGTGTGTGTGCGGAAGAGCTACAACCGGAAGCTTCAAGC
TATGAAGGCTGCCAAGGAGGCCAGGAAGACAGCAGCAGGGGTGATGCCCTCAGCCCCTGCCATC
CCAGGGACTAACATGTACAACACTGAGCGAGCCAACCCCATGCTGAACCTCCCCAACAAAGACC
TGGGCTTGGAGTACCTCTCTCCCTCCAATGACCTGGACTCTGTCAGCGTCAACTCCCTGGACGA
CAACTCTGTGGATGTGGACAAGAACAGTCAGGAAATCAAGGAGCACAGGCCACCACACACACCA
CCAGAGCCAGATCCAGAGCCCCTGAGCGTGGTCCTGTTAGGACGGCAGGCAGGCGCAAGTGGAC
AGCTGGAGGGGCCATCCTACACCAACGCTGGCCTGGACACCACGGACCTGTGACAGGGGCCCCC
ACTCTTCTGGACCCCTTGAAGAGGCCCTACCACACCCTAACTGCACCTGTCTCCCTGGAGATGA
AAATATATGACGCTGCCCTGCCTCCTGCTTTTGGCCAATCACGGCAGACAGGGGTTGGGGAAAT
ATTTTATTACCAA

hide sequence

Protein Sequences


Protein RefSeqs	NP_001165447	(Get FASTA)	NCBI Sequence Viewer
	NP_060145	(Get FASTA)	NCBI Sequence Viewer
GenBank Protein	AAI30283	(Get FASTA)	NCBI Sequence Viewer
	BAA90962	(Get FASTA)	NCBI Sequence Viewer
	BAB40777	(Get FASTA)	NCBI Sequence Viewer
	BAG37531	(Get FASTA)	NCBI Sequence Viewer
	EAW85066	(Get FASTA)	NCBI Sequence Viewer
	EAW85067	(Get FASTA)	NCBI Sequence Viewer
	EAW85068	(Get FASTA)	NCBI Sequence Viewer
	EAW85069	(Get FASTA)	NCBI Sequence Viewer
Ensembl Protein	ENSP00000261944
	ENSP00000261944.5
	ENSP00000424565
	ENSP00000424565.1
GenBank Protein	Q9BYE9	(Get FASTA)	NCBI Sequence Viewer

RefSeq Acc Id:	NP_001165447 ⟸ NM_001171976
- Peptide Label:	precursor
- UniProtKB:	A6NC80 (UniProtKB/Swiss-Prot), A1L3U4 (UniProtKB/Swiss-Prot), Q9NXP8 (UniProtKB/Swiss-Prot), Q9BYE9 (UniProtKB/Swiss-Prot)
- Sequence:	show sequence MAQLWLSCFLLPALVVSVAANVAPKFLANMTSVILPEDLPVGAQAFWLVAEDQDNDPLTYGMSG PNAYFFAVTPKTGEVKLASALDYETLYTFKVTISVSDPYIQVQREMLVIVEDRNDNAPVFQNTA FSTSINETLPVGSVVFSVLAVDKDMGSAGMVVYSIEKVIPSTGDSEHLFRILANGSIVLNGSLS YNNKSAFYQLELKACDLGGMYHNTFTIQCSLPVFLSISVVDQPDLDPQFVREFYSASVAEDAAK GTSVLTVEAVDGDKGINDPVIYSISYSTRPGWFDIGADGVIRVNGSLDREQLLEADEEVQLQVT ATETHLNIYGQEAKVSIWVTVRVMDVNDHKPEFYNCSLPACTFTPEEAQVNFTGYVDEHASPRI PIDDLTMVVYDPDKGSNGTFLLSLGGPDAEAFSVSPERAVGSASVQVLVRVSALVDYERQTAMA VQVVATDSVSQNFSVAMVTIHLRDINDHRPTFPQSLYVLTVPEHSATGSVVTDSIHATDPDTGA WGQITYSLLPGNGADLFQVDPVSGTVTVRNGELLDRESQAVYYLTLQATDGGNLSSSTTLQIHL LDINDNAPVVSGSYNIFVQEEEGNVSVTIQAHDNDEPGTNNSRLLFNLLPGPYSHNFSLDPDTG LLRNLGPLDREAIDPALEGRIVLTVLVSDCGEPVLGTKVNVTITVEDINDNLPIFNQSSYNFTV KEEDPGVLVGVVKAWDADQTEANNRISFSLSGSGANYFMIRGLVLGAGWAEGYLRLPPDVSLDY ETQPVFNLTVSAENPDPQGGETIVDVCVNVKDVNDNPPTLDVASLRGIRVAENGSQHGQVAVVV ASDVDTSAQLEIQLVNILCTKAGVDVGSLCWGWFSVAANGSVYINQSKAIDYEACDLVTLVVRA CDLATDPGFQAYSNNGSLLITIEDVNDNAPYFLPENKTFVIIPELVLPNREVASVRARDDDSGN NGVILFSILRVDFISKDGATIPFQGVFSIFTSSEADVFAGSIQPVTSLDSTLQGTYQVTVQARD RPSLGPFLEATTTLNLFTVDQSYRSRLQFSTPKEEVGANRQAINAALTQATRTTVYIVDIQDID SAARARPHSYLDAYFVFPNGSALTLDELSVMIRNDQDSLTQLLQLGLVVLGSQESQESDLSKQL ISVIIGLGVALLLVLVIMTMAFVCVRKSYNRKLQAMKAAKEARKTAAGVMPSAPAIPGTNMYNT ERANPMLNLPNKDLGLEYLSPSNDLDSVSVNSLDDNSVDVDKNSQEIKEHRPPHTPPEPDPEPL SVVLLGRQAGASGQLEGPSYTNAGLDTTDL hide sequence

RefSeq Acc Id:	NP_060145 ⟸ NM_017675
- Peptide Label:	precursor
- UniProtKB:	A6NC80 (UniProtKB/Swiss-Prot), A1L3U4 (UniProtKB/Swiss-Prot), Q9NXP8 (UniProtKB/Swiss-Prot), Q9BYE9 (UniProtKB/Swiss-Prot)
- Sequence:	show sequence MAQLWLSCFLLPALVVSVAANVAPKFLANMTSVILPEDLPVGAQAFWLVAEDQDNDPLTYGMSG PNAYFFAVTPKTGEVKLASALDYETLYTFKVTISVSDPYIQVQREMLVIVEDRNDNAPVFQNTA FSTSINETLPVGSVVFSVLAVDKDMGSAGMVVYSIEKVIPSTGDSEHLFRILANGSIVLNGSLS YNNKSAFYQLELKACDLGGMYHNTFTIQCSLPVFLSISVVDQPDLDPQFVREFYSASVAEDAAK GTSVLTVEAVDGDKGINDPVIYSISYSTRPGWFDIGADGVIRVNGSLDREQLLEADEEVQLQVT ATETHLNIYGQEAKVSIWVTVRVMDVNDHKPEFYNCSLPACTFTPEEAQVNFTGYVDEHASPRI PIDDLTMVVYDPDKGSNGTFLLSLGGPDAEAFSVSPERAVGSASVQVLVRVSALVDYERQTAMA VQVVATDSVSQNFSVAMVTIHLRDINDHRPTFPQSLYVLTVPEHSATGSVVTDSIHATDPDTGA WGQITYSLLPGNGADLFQVDPVSGTVTVRNGELLDRESQAVYYLTLQATDGGNLSSSTTLQIHL LDINDNAPVVSGSYNIFVQEEEGNVSVTIQAHDNDEPGTNNSRLLFNLLPGPYSHNFSLDPDTG LLRNLGPLDREAIDPALEGRIVLTVLVSDCGEPVLGTKVNVTITVEDINDNLPIFNQSSYNFTV KEEDPGVLVGVVKAWDADQTEANNRISFSLSGSGANYFMIRGLVLGAGWAEGYLRLPPDVSLDY ETQPVFNLTVSAENPDPQGGETIVDVCVNVKDVNDNPPTLDVASLRGIRVAENGSQHGQVAVVV ASDVDTSAQLEIQLVNILCTKAGVDVGSLCWGWFSVAANGSVYINQSKAIDYEACDLVTLVVRA CDLATDPGFQAYSNNGSLLITIEDVNDNAPYFLPENKTFVIIPELVLPNREVASVRARDDDSGN NGVILFSILRVDFISKDGATIPFQGVFSIFTSSEADVFAGSIQPVTSLDSTLQGTYQVTVQARD RPSLGPFLEATTTLNLFTVDQSYRSRLQFSTPKEEVGANRQAINAALTQATRTTVYIVDIQDID SAARARPHSYLDAYFVFPNGSALTLDELSVMIRNDQDSLTQLLQLGLVVLGSQESQESDLSKQL ISVIIGLGVALLLVLVIMTMAFVCVRKSYNRKLQAMKAAKEARKTAAGVMPSAPAIPGTNMYNT ERANPMLNLPNKDLGLEYLSPSNDLDSVSVNSLDDNSVDVDKNSQEIKEHRPPHTPPEPDPEPL SVVLLGRQAGASGQLEGPSYTNAGLDTTDL hide sequence

Ensembl Acc Id:

ENSP00000421078 ⟸ ENST00000506348

Ensembl Acc Id:

ENSP00000426838 ⟸ ENST00000510124

Ensembl Acc Id:

ENSP00000424565 ⟸ ENST00000510636

Ensembl Acc Id:

ENSP00000261944 ⟸ ENST00000261944

Protein Domains

Cadherin

Protein Structures

Name	Modeler	Protein Id	AA Range	Protein Structure
AF-Q9BYE9-F1-model_v2	AlphaFold	Q9BYE9	1-1310	view protein structure

Promoters

RGD ID:

6802955

Promoter ID:

HG_KWN:51869

Type:

CpG-Island

SO ACC ID:

SO:0000170

Source:

MPROMDB

Tissues & Cell Lines:

CD4+TCell, CD4+TCell_12Hour, CD4+TCell_2Hour, HeLa_S3, K562, Lymphoblastoid, NB4

Transcripts:

NM_001171976

Position:

Human Assembly	Chr	Position (strand)	Source
Build 36	5	175,901,211 - 175,902,167 (+)	MPROMDB

RGD ID:

6802957

Promoter ID:

HG_KWN:51872

Type:

Non-CpG

SO ACC ID:

SO:0000170

Source:

MPROMDB

Tissues & Cell Lines:

K562

Transcripts:

NM_017675

Position:

Human Assembly	Chr	Position (strand)	Source
Build 36	5	175,908,991 - 175,909,491 (+)	MPROMDB

RGD ID:

6871634

Promoter ID:

EPDNEW_H8982

Type:

initiation region

Name:

PCDH24_2

SO ACC ID:

SO:0000170

Source:

EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)

Alternative Promoters:

null; see alsoEPDNEW_H8983

Experiment Methods:

Single-end sequencing.

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	5	176,542,511 - 176,542,571	EPDNEW

RGD ID:

6871636

Promoter ID:

EPDNEW_H8983

Type:

initiation region

Name:

PCDH24_1

SO ACC ID:

SO:0000170

Source:

EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)

Alternative Promoters:

null; see alsoEPDNEW_H8982

Experiment Methods:

Single-end sequencing.

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	5	176,549,342 - 176,549,402	EPDNEW

Additional Information

External Database Links

Database	Acc Id	Source(s)
AGR Gene	HGNC:18231	AgrOrtholog
COSMIC	CDHR2	COSMIC
Ensembl Genes	ENSG00000074276	Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript	ENST00000261944	ENTREZGENE
	ENST00000261944.10	UniProtKB/Swiss-Prot
	ENST00000510636	ENTREZGENE
	ENST00000510636.5	UniProtKB/Swiss-Prot
Gene3D-CATH	Cadherins	UniProtKB/Swiss-Prot
GTEx	ENSG00000074276	GTEx
HGNC ID	HGNC:18231	ENTREZGENE
Human Proteome Map	CDHR2	Human Proteome Map
InterPro	Cadherin-like_dom	UniProtKB/Swiss-Prot
	Cadherin-like_sf	UniProtKB/Swiss-Prot
	Cadherin_CS	UniProtKB/Swiss-Prot
KEGG Report	hsa:54825	UniProtKB/Swiss-Prot
NCBI Gene	54825	ENTREZGENE
OMIM	619713	OMIM
PANTHER	CADHERIN-RELATED FAMILY MEMBER 2	UniProtKB/Swiss-Prot
	FAT ATYPICAL CADHERIN-RELATED	UniProtKB/Swiss-Prot
Pfam	Cadherin	UniProtKB/Swiss-Prot
PharmGKB	PA165660231	PharmGKB
PRINTS	CADHERIN	UniProtKB/Swiss-Prot
PROSITE	CADHERIN_1	UniProtKB/Swiss-Prot
	CADHERIN_2	UniProtKB/Swiss-Prot
SMART	SM00112	UniProtKB/Swiss-Prot
Superfamily-SCOP	SSF49313	UniProtKB/Swiss-Prot
UniProt	A1L3U4	ENTREZGENE
	A6NC80	ENTREZGENE
	CDHR2_HUMAN	UniProtKB/Swiss-Prot
	D6REJ3_HUMAN	UniProtKB/TrEMBL
	Q9BYE9	ENTREZGENE
	Q9NXP8	ENTREZGENE
UniProt Secondary	A1L3U4	UniProtKB/Swiss-Prot
	A6NC80	UniProtKB/Swiss-Prot
	Q9NXP8	UniProtKB/Swiss-Prot

Nomenclature History

Date	Current Symbol	Current Name	Previous Symbol	Previous Name	Description	Reference	Status
2015-12-01	CDHR2	cadherin related family member 2	CDHR2	cadherin-related family member 2	Symbol and/or name change	5135510	APPROVED
2011-07-27	CDHR2	cadherin-related family member 2	PCDH24	protocadherin 24	Symbol and/or name change	5135510	APPROVED

Gene Annotator (Functional Annotation) unavailable	Gene Annotator (Annotation Distribution) unavailable	Variant Visualizer (Genomic Variants) unavailble Variant Visualizer (Genomic Variants) unavailable
Gene Annotator (Functional Annotation)	Gene Annotator (Annotation Distribution)	Variant Visualizer (Genomic Variants)

InterViewer (Protein-Protein Interactions) unavailable	Gviewer (Genome Viewer) unavailable	Variant Visualizer (Damaging Variants) unavailble Variant Visualizer (Damaging Variants) unavailable
InterViewer (Protein-Protein Interactions)	GViewer (Genome Viewer)	Variant Visualizer (Damaging Variants)

Gene Annotator (Annotation Comparison) unavailable	OLGA (Gene List Generator) unavailable
Gene Annotator (Annotation Comparison)	OLGA (Gene List Generator)	Excel (Download)

MOET (Multi-Ontology Enrichement) unavailable	GOLF (Gene-Ortholog Location Finder) unavailable
MOET (Multi-Ontology Enrichement)	GOLF (Gene-Ortholog Location Finder)

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Imported Disease Annotations - ClinVar