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Gene: SPPL2B (signal peptide peptidase like 2B) Homo sapiens

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Symbol:

SPPL2B

Name:

signal peptide peptidase like 2B

RGD ID:

1601988

HGNC Page

HGNC:30627

Description:

Enables aspartic endopeptidase activity, intramembrane cleaving and protein homodimerization activity. Involved in membrane protein ectodomain proteolysis; membrane protein intracellular domain proteolysis; and regulation of immune response. Located in several cellular components, including bounding membrane of organelle; cytoskeleton; and endoplasmic reticulum membrane.

Type:

protein-coding

RefSeq Status:

REVIEWED

Previously known as:

FLJ99014; IMP-4; IMP4; intramembrane protease 4; KIAA1532; MGC111084; presenilin homologous protein 4; presenilin-like protein 1; PSH4; PSL1; signal peptide peptidase-like 2B; SPP-like 2B

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):	Sppl2b (signal peptide peptidase like 2B)	HGNC	Ensembl, HGNC, HomoloGene, Inparanoid, NCBI, OMA, Panther, PhylomeDB
Rattus norvegicus (Norway rat):	Sppl2b (signal peptide peptidase-like 2B)	HGNC	Ensembl, HomoloGene, Inparanoid, NCBI, Panther, PhylomeDB
Chinchilla lanigera (long-tailed chinchilla):	Sppl2b (signal peptide peptidase like 2B)	NCBI	Ortholog
Pan paniscus (bonobo/pygmy chimpanzee):	SPPL2B (signal peptide peptidase like 2B)	NCBI	Ortholog
Canis lupus familiaris (dog):	SPPL2B (signal peptide peptidase like 2B)	HGNC	Ensembl, HomoloGene, Inparanoid, NCBI, OMA, Panther
Ictidomys tridecemlineatus (thirteen-lined ground squirrel):	Sppl2b (signal peptide peptidase like 2B)	NCBI	Ortholog
Sus scrofa (pig):	SPPL2B (signal peptide peptidase like 2B)	HGNC	Ensembl, NCBI, OMA, OrthoDB, Panther
Chlorocebus sabaeus (green monkey):	SPPL2B (signal peptide peptidase like 2B)	NCBI	Ortholog
Heterocephalus glaber (naked mole-rat):	Sppl2b (signal peptide peptidase like 2B)	NCBI	Ortholog
Alliance orthologs ³
Rattus norvegicus (Norway rat):	Sppl2b (signal peptide peptidase-like 2B)	Alliance	DIOPT (Ensembl Compara\|HGNC\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Mus musculus (house mouse):	Sppl2b (signal peptide peptidase like 2B)	Alliance	DIOPT (Ensembl Compara\|HGNC\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Danio rerio (zebrafish):	sppl2 (signal peptide peptidase-like 2)	Alliance	DIOPT (Ensembl Compara\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Caenorhabditis elegans (roundworm):	imp-1	Alliance	DIOPT (Ensembl Compara\|InParanoid\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Xenopus tropicalis (tropical clawed frog):	sppl2b	Alliance	DIOPT (Ensembl Compara\|OMA\|OrthoFinder\|PANTHER\|PhylomeDB)
Xenopus laevis (African clawed frog):	sppl2b.L	Alliance	DIOPT (Xenbase)
Xenopus laevis (African clawed frog):	sppl2b.S	Alliance	DIOPT (Xenbase)

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	19	2,328,684 - 2,355,095 (+)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	19	2,328,615 - 2,355,095 (+)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	19	2,328,683 - 2,355,093 (+)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	19	2,279,629 - 2,306,100 (+)	NCBI	NCBI36	Build 36	hg18	NCBI36
Celera	19	2,262,722 - 2,289,416 (+)	NCBI		Celera
Cytogenetic Map	19	p13.3	NCBI
HuRef	19	2,099,320 - 2,126,087 (+)	NCBI		HuRef
CHM1_1	19	2,328,242 - 2,354,745 (+)	NCBI		CHM1_1
T2T-CHM13v2.0	19	2,302,357 - 2,328,755 (+)	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

Neurodevelopmental Disorders (IAGP)

progressive myoclonus epilepsy 9 (IAGP)

Gene-Chemical Interaction Annotations Click to see Annotation Detail View

1,2-dimethylhydrazine (ISO)

17beta-estradiol (ISO)

2,3',4,4',5-Pentachlorobiphenyl (ISO)

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

4,4'-sulfonyldiphenol (ISO)

acrylamide (EXP)

aristolochic acid A (EXP)

arsane (EXP)

arsenic atom (EXP)

beta-lapachone (EXP)

bisphenol A (EXP,ISO)

bisphenol F (ISO)

butanal (EXP)

chlormequat chloride (ISO)

doxorubicin (EXP)

ethanol (ISO)

fenthion (ISO)

folic acid (ISO)

formaldehyde (EXP)

FR900359 (EXP)

fulvestrant (EXP)

manganese atom (EXP)

manganese(0) (EXP)

manganese(II) chloride (EXP)

methidathion (ISO)

pentanal (EXP)

sodium arsenite (EXP)

tetrachloroethene (ISO)

thimerosal (EXP)

triptonide (ISO)

valproic acid (EXP)

vinclozolin (ISO)

vitamin E (EXP)

Gene Ontology Annotations Click to see Annotation Detail View

Biological Process

membrane protein ectodomain proteolysis (IDA)

membrane protein intracellular domain proteolysis (IDA,IMP)

membrane protein proteolysis (IBA,IDA)

proteolysis (IEA)

regulation of immune response (IMP)

regulation of tumor necrosis factor-mediated signaling pathway (TAS)

Cellular Component

actin cytoskeleton (IDA)

centrosome (IDA)

cytoplasmic side of endoplasmic reticulum membrane (IBA,IDA,IEA)

endosome (IEA)

endosome membrane (IDA,IEA)

Golgi apparatus (IEA)

Golgi membrane (IEA)

Golgi-associated vesicle membrane (IBA,IDA)

lumenal side of endoplasmic reticulum membrane (IBA,IDA,IEA)

lysosomal membrane (IBA,IDA,IEA)

lysosome (IEA)

membrane (IDA,IEA)

nucleoplasm (IDA)

plasma membrane (IDA,IEA,TAS)

Molecular Function

aspartic endopeptidase activity, intramembrane cleaving (IBA,IDA,IEA,IMP,TAS)

hydrolase activity (IEA)

peptidase activity (IEA)

protein binding (IPI)

protein homodimerization activity (IDA,IEA)

References

References - curated

#	Reference Title	Reference Citation
1.	Data Import for Chemical-Gene Interactions	RGD automated import pipeline for gene-chemical interactions

Additional References at PubMed

PMID:2313285	PMID:8889548	PMID:10819331	PMID:12077416	PMID:12139484	PMID:12477932	PMID:15057824	PMID:15385547	PMID:15489334	PMID:15998642	PMID:16829951	PMID:16829952
PMID:16873890	PMID:17965014	PMID:18768471	PMID:19114711	PMID:21873635	PMID:21896273	PMID:22194595	PMID:23384347	PMID:25064009	PMID:26186194	PMID:28514442	PMID:28611215
PMID:30819724	PMID:32513696	PMID:32814053	PMID:33961781	PMID:34048709	PMID:35271311	PMID:35748872	PMID:38367747	PMID:39499777

Genomics

Comparative Map Data

SPPL2B
(Homo sapiens - human)

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	19	2,328,684 - 2,355,095 (+)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	19	2,328,615 - 2,355,095 (+)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	19	2,328,683 - 2,355,093 (+)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	19	2,279,629 - 2,306,100 (+)	NCBI	NCBI36	Build 36	hg18	NCBI36
Celera	19	2,262,722 - 2,289,416 (+)	NCBI		Celera
Cytogenetic Map	19	p13.3	NCBI
HuRef	19	2,099,320 - 2,126,087 (+)	NCBI		HuRef
CHM1_1	19	2,328,242 - 2,354,745 (+)	NCBI		CHM1_1
T2T-CHM13v2.0	19	2,302,357 - 2,328,755 (+)	NCBI		T2T-CHM13v2.0

Sppl2b
(Mus musculus - house mouse)

Mouse Assembly	Chr	Position (strand)	Source	Genome Browsers
Mouse Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCm39	10	80,691,067 - 80,704,542 (+)	NCBI	GRCm39	GRCm39	mm39
GRCm39 Ensembl	10	80,691,109 - 80,704,542 (+)	Ensembl		GRCm39 Ensembl
GRCm38	10	80,855,242 - 80,868,708 (+)	NCBI	GRCm38	GRCm38	mm10	GRCm38
GRCm38.p6 Ensembl	10	80,855,275 - 80,868,708 (+)	Ensembl	GRCm38		mm10	GRCm38
MGSCv37	10	80,318,020 - 80,331,453 (+)	NCBI	GRCm37	MGSCv37	mm9	NCBIm37
MGSCv36	10	80,258,386 - 80,271,834 (+)	NCBI		MGSCv36	mm8
Celera	10	81,874,073 - 81,887,506 (+)	NCBI		Celera
Cytogenetic Map	10	C1	NCBI
cM Map	10	39.72	NCBI

Sppl2b
(Rattus norvegicus - Norway rat)

Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCr8	7	9,494,593 - 9,507,317 (-)	NCBI		GRCr8
mRatBN7.2	7	8,843,918 - 8,856,642 (-)	NCBI	mRatBN7.2	mRatBN7.2
mRatBN7.2 Ensembl	7	8,843,918 - 8,856,608 (-)	Ensembl		mRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx	7	11,727,769 - 11,740,555 (-)	NCBI	Rnor_SHR	UTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0	7	13,603,273 - 13,616,059 (-)	NCBI	Rnor_SHRSP	UTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0	7	11,469,804 - 11,482,591 (-)	NCBI	Rnor_WKY	UTH_Rnor_WKY_Bbb_1.0
Rnor_6.0	7	11,712,187 - 11,724,915 (-)	NCBI	Rnor6.0	Rnor_6.0	rn6	Rnor6.0
Rnor_6.0 Ensembl	7	11,712,188 - 11,724,843 (-)	Ensembl	Rnor6.0		rn6	Rnor6.0
Rnor_5.0	7	11,879,707 - 11,892,620 (-)	NCBI	Rnor5.0	Rnor_5.0	rn5	Rnor5.0
RGSC_v3.4	7	10,354,554 - 10,367,210 (-)	NCBI	RGSC3.4	RGSC_v3.4	rn4	RGSC3.4
RGSC_v3.1	7	10,354,554 - 10,367,210 (-)	NCBI
Celera	7	7,028,038 - 7,040,694 (-)	NCBI		Celera
Cytogenetic Map	7	q11	NCBI

Sppl2b
(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_004955495	5,818,337 - 5,829,889 (-)	Ensembl	ChiLan1.0
ChiLan1.0	NW_004955495	5,816,979 - 5,829,938 (-)	NCBI	ChiLan1.0	ChiLan1.0

SPPL2B
(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	20	6,711,728 - 6,736,722 (+)	NCBI		NHGRI_mPanPan1-v2
NHGRI_mPanPan1	19	5,941,082 - 5,968,189 (+)	NCBI		NHGRI_mPanPan1
Mhudiblu_PPA_v0	19	1,337,570 - 1,355,755 (+)	NCBI	Mhudiblu_PPA_v0	Mhudiblu_PPA_v0	panPan3
PanPan1.1	19	2,309,360 - 2,331,951 (+)	NCBI	panpan1.1	PanPan1.1	panPan2
PanPan1.1 Ensembl	19	2,309,360 - 2,331,951 (+)	Ensembl	panpan1.1		panPan2

SPPL2B
(Canis lupus familiaris - dog)

Dog Assembly	Chr	Position (strand)	Source	Genome Browsers
Dog Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
CanFam3.1	20	56,714,306 - 56,730,388 (-)	NCBI	CanFam3.1	CanFam3.1	canFam3	CanFam3.1
CanFam3.1 Ensembl	20	56,712,390 - 56,757,938 (-)	Ensembl	CanFam3.1		canFam3	CanFam3.1
Dog10K_Boxer_Tasha	20	56,509,908 - 56,525,995 (-)	NCBI		Dog10K_Boxer_Tasha
ROS_Cfam_1.0	20	57,447,711 - 57,463,802 (-)	NCBI		ROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl	20	57,447,720 - 57,463,752 (-)	Ensembl		ROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1	20	56,499,796 - 56,515,881 (-)	NCBI		UMICH_Zoey_3.1
UNSW_CanFamBas_1.0	20	56,985,051 - 57,001,127 (-)	NCBI		UNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0	20	57,185,354 - 57,201,441 (-)	NCBI		UU_Cfam_GSD_1.0

Sppl2b
(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_024405118	216,426,113 - 216,435,356 (-)	NCBI		HiC_Itri_2
SpeTri2.0 Ensembl	NW_004936588	1,399,085 - 1,408,783 (+)	Ensembl	SpeTri2.0	SpeTri2.0 Ensembl
SpeTri2.0	NW_004936588	1,399,125 - 1,408,676 (+)	NCBI	SpeTri2.0	SpeTri2.0		SpeTri2.0

SPPL2B
(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	76,230,061 - 76,247,051 (-)	Ensembl	Sscrofa11.1		susScr11	Sscrofa11.1
Sscrofa11.1	2	76,230,060 - 76,247,067 (-)	NCBI	Sscrofa11.1	Sscrofa11.1	susScr11	Sscrofa11.1
Sscrofa10.2	2	76,781,961 - 76,798,979 (-)	NCBI	Sscrofa10.2	Sscrofa10.2	susScr3

SPPL2B
(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	6	2,121,568 - 2,142,746 (+)	NCBI	ChlSab1.1	ChlSab1.1	chlSab2
ChlSab1.1 Ensembl	6	2,121,634 - 2,144,682 (+)	Ensembl	ChlSab1.1	ChlSab1.1 Ensembl	chlSab2
Vero_WHO_p1.0	NW_023666081	6,566,507 - 6,588,105 (-)	NCBI	Vero_WHO_p1.0	Vero_WHO_p1.0

Sppl2b
(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_004624828	6,562,426 - 6,576,609 (-)	Ensembl	HetGla_female_1.0	HetGla_female_1.0 Ensembl	hetGla2
HetGla 1.0	NW_004624828	6,564,127 - 6,576,663 (-)	NCBI	HetGla_female_1.0	HetGla 1.0	hetGla2

Variants

Variants in SPPL2B
8 total Variants

Clinical Variants

Name	Type	Condition(s)	Position(s)	Clinical significance
GRCh38/hg38 19p13.3(chr19:259395-2555149)x3	copy number gain	See cases [RCV000051044]	Chr19:259395..2555149 [GRCh38] Chr19:259395..2555147 [GRCh37] Chr19:210395..2506147 [NCBI36] Chr19:19p13.3	pathogenic
GRCh38/hg38 19p13.3(chr19:1565575-4108128)x3	copy number gain	See cases [RCV000052878]	Chr19:1565575..4108128 [GRCh38] Chr19:1565574..4108126 [GRCh37] Chr19:1516574..4059126 [NCBI36] Chr19:19p13.3	pathogenic
GRCh38/hg38 19p13.3-13.2(chr19:1972245-9648879)x3	copy number gain	See cases [RCV000052879]	Chr19:1972245..9648879 [GRCh38] Chr19:1972244..9759555 [GRCh37] Chr19:1923244..9620555 [NCBI36] Chr19:19p13.3-13.2	pathogenic
GRCh38/hg38 19p13.3-13.2(chr19:265917-8564134)x3	copy number gain	Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052876]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052876]\|See cases [RCV000052876]	Chr19:265917..8564134 [GRCh38] Chr19:265917..8629018 [GRCh37] Chr19:216917..8535018 [NCBI36] Chr19:19p13.3-13.2	pathogenic
GRCh38/hg38 19p13.3(chr19:233565-4699472)x3	copy number gain	See cases [RCV000052575]	Chr19:233565..4699472 [GRCh38] Chr19:233565..4699484 [GRCh37] Chr19:184565..4650484 [NCBI36] Chr19:19p13.3	pathogenic
GRCh38/hg38 19p13.3(chr19:1549144-4288720)x1	copy number loss	See cases [RCV000134795]	Chr19:1549144..4288720 [GRCh38] Chr19:1549143..4288717 [GRCh37] Chr19:1500143..4239717 [NCBI36] Chr19:19p13.3	pathogenic
GRCh38/hg38 19p13.3(chr19:421537-2897921)x3	copy number gain	See cases [RCV000134894]	Chr19:421537..2897921 [GRCh38] Chr19:421537..2897919 [GRCh37] Chr19:372537..2848919 [NCBI36] Chr19:19p13.3	likely pathogenic
GRCh38/hg38 19p13.3(chr19:1351163-2555149)x3	copy number gain	See cases [RCV000136880]	Chr19:1351163..2555149 [GRCh38] Chr19:1351162..2555147 [GRCh37] Chr19:1302162..2506147 [NCBI36] Chr19:19p13.3	uncertain significance
GRCh38/hg38 19p13.3(chr19:259395-6795611)x3	copy number gain	See cases [RCV000142627]	Chr19:259395..6795611 [GRCh38] Chr19:259395..6795622 [GRCh37] Chr19:210395..6746622 [NCBI36] Chr19:19p13.3	pathogenic
GRCh37/hg19 19p13.3(chr19:1952590-2698712)x3	copy number gain	See cases [RCV000239912]	Chr19:1952590..2698712 [GRCh37] Chr19:19p13.3	uncertain significance
GRCh37/hg19 19p13.3(chr19:277373-2555164)x3	copy number gain	See cases [RCV000240507]	Chr19:277373..2555164 [GRCh37] Chr19:19p13.3	pathogenic
GRCh37/hg19 19p13.3(chr19:259395-3152419)	copy number gain	Global developmental delay [RCV000626520]	Chr19:259395..3152419 [GRCh37] Chr19:19p13.3	likely pathogenic
GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)	copy number gain	See cases [RCV000512296]	Chr19:260912..58956888 [GRCh37] Chr19:19p13.3-q13.43	pathogenic
GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3	copy number gain	See cases [RCV000511289]	Chr19:260912..58956888 [GRCh37] Chr19:19p13.3-q13.43	pathogenic\|uncertain significance
GRCh37/hg19 19p13.3(chr19:260911-3200875)x3	copy number gain	not provided [RCV000684094]	Chr19:260911..3200875 [GRCh37] Chr19:19p13.3	pathogenic
GRCh37/hg19 19p13.3-q13.43(chr19:260912-59097160)x3	copy number gain	not provided [RCV000752444]	Chr19:260912..59097160 [GRCh37] Chr19:19p13.3-q13.43	pathogenic
GRCh37/hg19 19p13.3-q13.43(chr19:68029-59110290)x3	copy number gain	not provided [RCV000752439]	Chr19:68029..59110290 [GRCh37] Chr19:19p13.3-q13.43	pathogenic
Single allele	deletion	Internal malformations [RCV000787421]	Chr19:2229488..4004142 [GRCh37] Chr19:19p13.3	uncertain significance
NC_000019.9:g.1406030_3597207dup	duplication	Neurodevelopmental disorder [RCV000787423]	Chr19:1406030..3597207 [GRCh37] Chr19:19p13.3	uncertain significance
GRCh37/hg19 19p13.3(chr19:260912-4384674)x3	copy number gain	See cases [RCV001007443]	Chr19:260912..4384674 [GRCh37] Chr19:19p13.3	pathogenic
GRCh37/hg19 19p13.3(chr19:260911-4788357)x3	copy number gain	not provided [RCV000846988]	Chr19:260911..4788357 [GRCh37] Chr19:19p13.3	pathogenic
NC_000019.9:g.(?_589946)_(4818389_?)dup	duplication	not provided [RCV003105391]	Chr19:589946..4818389 [GRCh37] Chr19:19p13.3	uncertain significance
GRCh37/hg19 19p13.3(chr19:260911-3501271)x3	copy number gain	not provided [RCV001007025]	Chr19:260911..3501271 [GRCh37] Chr19:19p13.3	pathogenic
GRCh37/hg19 19p13.3(chr19:2273150-2897133)x3	copy number gain	See cases [RCV001194584]	Chr19:2273150..2897133 [GRCh37] Chr19:19p13.3	uncertain significance
GRCh37/hg19 19p13.3(chr19:1973753-2380699)x3	copy number gain	not provided [RCV001834492]	Chr19:1973753..2380699 [GRCh37] Chr19:19p13.3	uncertain significance
NC_000019.9:g.(?_589946)_(5696788_?)dup	duplication	not provided [RCV003113597]	Chr19:589946..5696788 [GRCh37] Chr19:19p13.3	uncertain significance
NC_000019.9:g.(?_1456055)_(2456931_?)dup	duplication	Progressive myoclonic epilepsy type 9 [RCV003122897]	Chr19:1456055..2456931 [GRCh37] Chr19:19p13.3	uncertain significance
NM_152988.3(SPPL2B):c.178A>G (p.Ser60Gly)	single nucleotide variant	not specified [RCV004240426]	Chr19:2334713 [GRCh38] Chr19:2334712 [GRCh37] Chr19:19p13.3	likely benign
NM_152988.3(SPPL2B):c.736C>G (p.Leu246Val)	single nucleotide variant	not specified [RCV004198452]	Chr19:2339960 [GRCh38] Chr19:2339959 [GRCh37] Chr19:19p13.3	uncertain significance
NM_152988.3(SPPL2B):c.1603C>T (p.Pro535Ser)	single nucleotide variant	not specified [RCV004189561]	Chr19:2353033 [GRCh38] Chr19:2353031 [GRCh37] Chr19:19p13.3	uncertain significance
NM_152988.3(SPPL2B):c.737T>A (p.Leu246His)	single nucleotide variant	not specified [RCV004198453]	Chr19:2339961 [GRCh38] Chr19:2339960 [GRCh37] Chr19:19p13.3	likely benign
NM_152988.3(SPPL2B):c.802G>A (p.Ala268Thr)	single nucleotide variant	not specified [RCV004186340]	Chr19:2340135 [GRCh38] Chr19:2340134 [GRCh37] Chr19:19p13.3	uncertain significance
NC_000019.9:g.(?_1206913)_(3771740_?)dup	duplication	not provided [RCV003154903]	Chr19:1206913..3771740 [GRCh37] Chr19:19p13.3	uncertain significance
GRCh37/hg19 19p13.3-13.2(chr19:260912-7246777)x3	copy number gain	not provided [RCV003485190]	Chr19:260912..7246777 [GRCh37] Chr19:19p13.3-13.2	pathogenic
GRCh37/hg19 19p13.3(chr19:260912-2934171)x3	copy number gain	not provided [RCV004819320]	Chr19:260912..2934171 [GRCh37] Chr19:19p13.3	pathogenic

miRNA Target Status (No longer updated)

Predicted Target Of

	Summary Value
Count of predictions:	6043
Count of miRNA genes:	1056
Interacting mature miRNAs:	1347
Transcripts:	ENST00000382189, ENST00000452401, ENST00000585725, ENST00000586332, ENST00000586377, ENST00000587851, ENST00000589515, ENST00000590295, ENST00000590902, ENST00000590982, ENST00000591959, ENST00000592738, ENST00000592845, ENST00000593198, ENST00000593243, ENST00000610255
Prediction methods:	Microtar, Miranda, Rnahybrid
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
1298499	UAE1_H	Urinary albumin excretion QTL 1 (human)	2.73	0.0009	Urinary albumin excretion	urine albumin:creatinine ratio (ACR)	19	1	16075902	Human
597199624	GWAS1295698_H	diastolic blood pressure QTL GWAS1295698 (human)		2e-09	diastolic blood pressure	diastolic blood pressure (CMO:0000005)	19	2346732	2346733	Human
1643451	SLIPL6_H	Serum lipid level QTL 6 (human)	2.19	0.0008	Lipid level		19	1	16075902	Human
597212268	GWAS1308342_H	mathematical ability QTL GWAS1308342 (human)		6e-09	mathematical ability		19	2354913	2354914	Human
1581534	BP76_H	Blood pressure QTL 76 (human)	2	0.001	Blood pressure	pulse pressure	19	1	16075902	Human
597348716	GWAS1444790_H	anti-Mullerian hormone measurement QTL GWAS1444790 (human)		3e-08	anti-Mullerian hormone measurement		19	2352079	2352080	Human
1581535	BP65_H	Blood pressure QTL 65 (human)	3.1	0.001	Blood pressure	pulse pressure	19	1	16075902	Human
2314591	INSUL4_H	Insulin level QTL 4 (human)	3.8	0.000038	Insulin level	fasting	19	1	16075902	Human
597325766	GWAS1421840_H	Parkinson disease QTL GWAS1421840 (human)		1e-09	Parkinson disease		19	2341049	2341050	Human
1298476	BP3_H	Blood pressure QTL 3 (human)	2.4		Blood pressure	systolic	19	1	16075902	Human
597050985	GWAS1147059_H	Parkinson disease QTL GWAS1147059 (human)		4e-10	Parkinson disease		19	2341049	2341050	Human

Markers in Region

RH92744

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	19	2,353,807 - 2,353,904	UniSTS	GRCh37
Build 36	19	2,304,807 - 2,304,904	RGD	NCBI36
Celera	19	2,288,123 - 2,288,220	RGD
Cytogenetic Map	19	p13.3	UniSTS
HuRef	19	2,124,794 - 2,124,891	UniSTS
GeneMap99-GB4 RH Map	19	23.39	UniSTS

RH39163

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	19	2,353,676 - 2,353,838	UniSTS	GRCh37
Build 36	19	2,304,676 - 2,304,838	RGD	NCBI36
Celera	19	2,287,992 - 2,288,154	RGD
Cytogenetic Map	19	p13.3	UniSTS
HuRef	19	2,124,663 - 2,124,825	UniSTS

STS-R61296

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	19	2,341,664 - 2,341,787	UniSTS	GRCh37
Build 36	19	2,292,664 - 2,292,787	RGD	NCBI36
Celera	19	2,275,799 - 2,275,922	RGD
Cytogenetic Map	19	p13.3	UniSTS
HuRef	19	2,112,045 - 2,112,168	UniSTS
GeneMap99-GB4 RH Map	19	25.82	UniSTS

WI-21761

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	19	2,341,608 - 2,341,812	UniSTS	GRCh37
Build 36	19	2,292,608 - 2,292,812	RGD	NCBI36
Celera	19	2,275,743 - 2,275,947	RGD
Cytogenetic Map	19	p13.3	UniSTS
HuRef	19	2,111,989 - 2,112,193	UniSTS
GeneMap99-GB4 RH Map	19	32.74	UniSTS
Whitehead-RH Map	19	17.1	UniSTS

WI-14369

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	19	2,354,638 - 2,354,787	UniSTS	GRCh37
Build 36	19	2,305,638 - 2,305,787	RGD	NCBI36
Celera	19	2,288,954 - 2,289,103	RGD
Cytogenetic Map	19	p13.3	UniSTS
HuRef	19	2,125,625 - 2,125,774	UniSTS
GeneMap99-GB4 RH Map	19	32.74	UniSTS
Whitehead-RH Map	19	17.7	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
1204	2432	2788	2245	4942	1723	2345	4	622	1948	464	2268	7281	6454	52	3708	847	1731	1612	171

Sequence

Nucleotide Sequences


RefSeq Transcripts	NG_032984	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001077238	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_152988	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_011528138	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_011528139	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_011528140	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_017027016	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_017027017	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_017027018	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_017027019	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_024451619	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054321504	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054321505	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054321506	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054321507	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XR_001753719	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XR_001753720	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XR_001753721	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XR_001753722	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XR_002958334	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
GenBank Nucleotide	AB040965	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AC004410	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AC005258	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AJ345027	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AJ420897	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK226130	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK308973	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK309122	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AL365405	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AY169315	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC001788	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC028391	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC093046	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BU733058	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CH471139	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CP068259	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	KF459714	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles

Ensembl Acc Id:

ENST00000585725

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	19	2,328,615 - 2,338,526 (+)	Ensembl

Ensembl Acc Id:

ENST00000586111

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	19	2,330,297 - 2,330,759 (+)	Ensembl

Ensembl Acc Id:

ENST00000586332 ⟹ ENSP00000480311

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	19	2,328,659 - 2,337,482 (+)	Ensembl

Ensembl Acc Id:

ENST00000587851

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	19	2,334,629 - 2,337,935 (+)	Ensembl

Ensembl Acc Id:

ENST00000589515

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	19	2,342,722 - 2,353,567 (+)	Ensembl

Ensembl Acc Id:

ENST00000593243

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	19	2,337,111 - 2,339,877 (+)	Ensembl

Ensembl Acc Id:

ENST00000610743 ⟹ ENSP00000478510

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	19	2,328,693 - 2,353,933 (+)	Ensembl

Ensembl Acc Id:

ENST00000612623 ⟹ ENSP00000477658

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	19	2,339,158 - 2,343,972 (+)	Ensembl

Ensembl Acc Id:

ENST00000613503 ⟹ ENSP00000478298

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	19	2,328,684 - 2,355,095 (+)	Ensembl

Ensembl Acc Id:

ENST00000614784

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	19	2,339,678 - 2,341,956 (+)	Ensembl

Ensembl Acc Id:

ENST00000614794 ⟹ ENSP00000482362

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	19	2,328,684 - 2,341,468 (+)	Ensembl

Ensembl Acc Id:

ENST00000618220 ⟹ ENSP00000480813

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	19	2,328,696 - 2,342,503 (+)	Ensembl

Ensembl Acc Id:

ENST00000621568 ⟹ ENSP00000482470

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	19	2,328,673 - 2,343,292 (+)	Ensembl

Ensembl Acc Id:

ENST00000622308

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	19	2,338,760 - 2,341,187 (+)	Ensembl

RefSeq Acc Id:

NM_001077238 ⟹ NP_001070706

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	19	2,328,684 - 2,355,095 (+)	NCBI
GRCh37	19	2,328,629 - 2,355,100 (+)	RGD
Build 36	19	2,279,629 - 2,306,100 (+)	NCBI Archive
Celera	19	2,262,722 - 2,289,416 (+)	RGD
HuRef	19	2,099,320 - 2,126,087 (+)	RGD
CHM1_1	19	2,328,242 - 2,354,745 (+)	NCBI
T2T-CHM13v2.0	19	2,302,357 - 2,328,755 (+)	NCBI

Sequence:

show sequence

GTTGGTTGCGGCGGGCACCGGCCGACATGGCGGCAGCGGTGGCGGCTGCGCTGGCGCGGCTTTT
GGCGGCCTTTCTGCTCCTCGCGGCCCAGGTGGCCTGTGAGTACGGCATGGTGCACGTGGTCTCC
CAGGCCGGGGGCCCCGAAGGCAAAGACTACTGCATCCTCTACAACCCGCAGTGGGCCCATCTTC
CGCACGACCTCAGCAAGGCATCTTTCCTGCAGCTGCGCAACTGGACGGCCTCCCTGCTCTGCTC
CGCAGCCGACCTCCCCGCCCGTGGCTTCAGCAACCAGATCCCGCTGGTGGCGCGGGGGAACTGC
ACCTTCTATGAGAAAGTGAGGCTGGCCCAGGGCAGCGGAGCACGCGGGCTGCTCATCGTCAGCA
GGGAGAGGCTGGTCCCCCCGGGGGGTAATAAGACGCAGTATGATGAGATTGGCATTCCCGTGGC
CCTGCTCAGCTACAAAGACATGCTGGACATCTTCACGCGTTTCGGCCGCACGGTGAGGGCGGCG
CTGTATGCGCCTAAGGAGCCGGTGCTGGACTACAACATGGTCATCATCTTCATCATGGCTGTGG
GCACCGTCGCCATCGGCGGCTACTGGGCCGGGAGTCGGGACGTGAAGAAAAGGTACATGAAGCA
CAAGCGCGACGATGGGCCCGAGAAGCAGGAGGACGAGGCGGTGGACGTGACGCCGGTGATGACC
TGCGTGTTTGTGGTGATGTGCTGCTCCATGCTGGTGCTGCTCTACTATTTCTACGATCTCCTCG
TGTACGTGGTCATCGGGATCTTCTGCCTGGCCTCCGCCACCGGCCTCTACAGCTGCCTGGCGCC
CTGTGTGCGGCGGCTGCCCTTCGGCAAGTGCAGGATCCCCAACAACAGCCTGCCCTACTTCCAC
AAGCGCCCGCAGGCCCGTATGCTGCTCCTGGCGCTCTTCTGCGTGGCCGTCAGCGTGGTGTGGG
GCGTCTTCCGCAACGAGGACCAGTGGGCCTGGGTCCTCCAGGATGCCCTGGGCATCGCCTTCTG
CCTCTACATGCTGAAGACCATCCGTCTGCCCACCTTCAAGGCCTGCACGCTGCTGCTGCTGGTG
CTGTTCCTCTACGACATCTTCTTCGTGTTCATCACGCCCTTCCTGACCAAGAGTGGGAGCAGCA
TCATGGTGGAGGTGGCCACTGGGCCCTCGGACTCAGCCACCCGTGAGAAGCTGCCCATGGTCCT
GAAGGTGCCCAGGCTGAACTCCTCACCTCTGGCCCTGTGTGACCGGCCCTTCTCCCTCCTGGGT
TTCGGAGACATTTTGGTGCCAGGGCTGCTGGTGGCCTACTGCCACAGGTTTGACATCCAGGTAC
AGTCCTCCAGGGTATACTTCGTGGCCTGCACCATCGCCTATGGCGTTGGCCTCCTTGTGACATT
CGTGGCACTGGCCCTGATGCAGCGTGGCCAGCCCGCTCTCCTCTACCTGGTGCCCTGCACGCTG
GTGACGAGCTGCGCTGTGGCGCTCTGGCGCCGGGAGCTGGGCGTGTTCTGGACGGGCAGCGGCT
TTGCGGTGAATACCAGTTTGCTCTGACTGTGAGAAATACTCGCCTAGTGAGCCCTAACTAGAGT
TAAAAAAGTCCTACCTCCATCTCCGTGGGCCCCAGCACCAGCCGACGGCCCGCAGCCTCCCAAA
GACTCTGCCACGCCACTCTCCCCGCAGCCGCCCAGCGAAGAACCAGCCACATCCCCCTGGCCTG
CTGAGCAGTCCCCAAAATCACGCACGTCCGAGGAGATGGGGGCTGGAGCCCCCATGCGGGAGCC
TGGGAGCCCAGCTGAATCCGAGGGCCGGGACCAGGCCCAGCCGTCCCCGGTAACCCAGCCTGGC
GCCTCGGCCTAGGGGAGGGGTGAGACGCTCGCTGCCGTGCCCGCCACACCAAGATGTTGGGGCT
GCCTGGCGCCCACTGGAGACAGACAGACAGACGCCTGTCCCCCGGGACCGAGGCCTGTGCCGTC
CCCACCCGCCCCAACATGGTGCTCATCCTTGCCGAGACCCCTGCGGTCTGTGCCCGCGCCCAGC
CCAGCTGCCCCGGCTGCACGCCTGCTGCTCCCAGCTCGCCCGGCTGCCACAAGCTCTCTGCGGG
TCCATCCTCCCCACCGGGGTCCGTCCTCGCAGGCCCTGCCCGGCCTCTCTGCAGACCCTCAAGC
GTCGTCTGCATGAGTGAGCAGGCGTGGGTGGACTCTGGCCGCGGCCACACTTGGTGCTCACCAG
CTGCTTCGGCCTTCAGGTGACCTCCCTCCCCACGGCATCCTGCTCTCCGGGTGGAAGAGCAGCT
TTCTGTCTCCCAGAAGGCATCGCTTTTCCCTCTTGAGCAGATCGGAGCCCCTGGGAGGTTTGGA
AGCTGCCTCCAAGCCTAGGACACGGACCAGTGGCCGGGGCGGCCTCTGGCCCCTGACGCTGGCT
GAGACAGGCCCGTGGGGCGGGGTTTTGGGGCGTGAACAAGGCTGGCAGTAAGTGGACAAGCTGC
TCCCCTGGCTAAGGCCCTGCCCTGCCCTCAGCCAGAGGTGCCTGGCCATGCCTGCACACTCCTC
CCCATTTTAATAAATGGTCGCAACTTCTAGAAGTCCTGCTGGTGCCACCTGGTGGGGTGGACGT
CTCTCAGACTGCCCTTCTGACAAGCAGGGGTGGGCGCCAGGCAGGCTGGGTCAGGCCCTCAGGG
GTCCCTGGAGCCCTGGGAGGGAGGGACTGGGTCGTGGGAGGTCCTGGTAGCTCCCGGCACCCAA
CCTCGCTTCCCGTGTGGGCCCCGTGTTGCTTTTCTGCTGAGAGGGGCTTGGGCCTCGGTTCTCC
CTGTGGCAGCGGCATTGGTGCCTGGGTTCTTAACCCTCTGGACCCAGCAGCTAGGAGCTTCTGG
AACCCACGAGGACATCTGCCACTGGCATGGTCTACTCACTGATGGGGTCCTCCTGACTCCAGGG
CAGAGACGTCCGTGCGGGAACTGACCGAGGCGTGGCCCCAGGCCCCGGCATCCTCCCCTCGCTG
CACGTGGTCACTTCCGAAGCAGCGCTCCCTGTGGCCGCAGAGACAGAGCCCGCACCCTGGCTGT
CTGTGGTGCCTGGGCCCCAGCTCCCGCCCGCCACCCGCCCTGTTGAGTGCGGCCTCCAGACTCG
AGTCCAGAATCTGTTTCTGTCAAGTCAGTCGTCCCCAGCTGCACACGGGGACTGCTGAGCGCTG
CGCTCTCACGGGTCTGTTCCGGACAGAGGGTGGCAGGGGTGAGCCCTGATCCCTTACAAAAAAT
ACCAGCTTCCCAGGGAGTAATGGCGCCTTCACTGAAGCCATTTTGTACATGGGGACGGGGTGGG
GACGTCTCTTTTTTGGTGTTGGACGTTTGACCAGTGGGGAGGGGTTCAGAGGCGGCGGTCCTGT
CCTTGGCTCCGTCTGTCCGTGTGGCCTTGCTGCCATTCCGTCTGATCATTAAACACAGCTTTTG
ATACATATGGCCCGGCCTCTGCCTCCGCAGTGCACGGCTTGGGGCATCTGCTCTGTGCAGGTCC
CGGTGAGCAGAACTGAGAGCTGGCAGGCCGCCTGGCTGTCCTGCAGAGGACGGATTGGAATTGC
CACCGCAGGGCCGGCCAGTGCTGTGAGGTGCCCAGCGTCACTCCCATGGGCTCTGTGGGCCATG
TGGTCCCTGTCACGCTTCTCAGCTCTGCCACTGTTGCTGGAAAGCATCACAGACCATGTGTAAA
ATGGGCCAAAATACCTTTTACAAAATTAAAATAGAGATGGGG

hide sequence

RefSeq Acc Id:

NM_152988 ⟹ NP_694533

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	19	2,328,684 - 2,355,095 (+)	NCBI
GRCh37	19	2,328,629 - 2,355,100 (+)	RGD
Build 36	19	2,279,629 - 2,306,100 (+)	NCBI Archive
Celera	19	2,262,722 - 2,289,416 (+)	RGD
HuRef	19	2,099,320 - 2,126,087 (+)	RGD
CHM1_1	19	2,328,242 - 2,354,745 (+)	NCBI
T2T-CHM13v2.0	19	2,302,357 - 2,328,755 (+)	NCBI

Sequence:

show sequence

GTTGGTTGCGGCGGGCACCGGCCGACATGGCGGCAGCGGTGGCGGCTGCGCTGGCGCGGCTTTT
GGCGGCCTTTCTGCTCCTCGCGGCCCAGGTGGCCTGTGAGTACGGCATGGTGCACGTGGTCTCC
CAGGCCGGGGGCCCCGAAGGCAAAGACTACTGCATCCTCTACAACCCGCAGTGGGCCCATCTTC
CGCACGACCTCAGCAAGGCATCTTTCCTGCAGCTGCGCAACTGGACGGCCTCCCTGCTCTGCTC
CGCAGCCGACCTCCCCGCCCGTGGCTTCAGCAACCAGATCCCGCTGGTGGCGCGGGGGAACTGC
ACCTTCTATGAGAAAGTGAGGCTGGCCCAGGGCAGCGGAGCACGCGGGCTGCTCATCGTCAGCA
GGGAGAGGCTGGTCCCCCCGGGGGGTAATAAGACGCAGTATGATGAGATTGGCATTCCCGTGGC
CCTGCTCAGCTACAAAGACATGCTGGACATCTTCACGCGTTTCGGCCGCACGGTGAGGGCGGCG
CTGTATGCGCCTAAGGAGCCGGTGCTGGACTACAACATGGTCATCATCTTCATCATGGCTGTGG
GCACCGTCGCCATCGGCGGCTACTGGGCCGGGAGTCGGGACGTGAAGAAAAGGTACATGAAGCA
CAAGCGCGACGATGGGCCCGAGAAGCAGGAGGACGAGGCGGTGGACGTGACGCCGGTGATGACC
TGCGTGTTTGTGGTGATGTGCTGCTCCATGCTGGTGCTGCTCTACTATTTCTACGATCTCCTCG
TGTACGTGGTCATCGGGATCTTCTGCCTGGCCTCCGCCACCGGCCTCTACAGCTGCCTGGCGCC
CTGTGTGCGGCGGCTGCCCTTCGGCAAGTGCAGGATCCCCAACAACAGCCTGCCCTACTTCCAC
AAGCGCCCGCAGGCCCGTATGCTGCTCCTGGCGCTCTTCTGCGTGGCCGTCAGCGTGGTGTGGG
GCGTCTTCCGCAACGAGGACCAGTGGGCCTGGGTCCTCCAGGATGCCCTGGGCATCGCCTTCTG
CCTCTACATGCTGAAGACCATCCGTCTGCCCACCTTCAAGGCCTGCACGCTGCTGCTGCTGGTG
CTGTTCCTCTACGACATCTTCTTCGTGTTCATCACGCCCTTCCTGACCAAGAGTGGGAGCAGCA
TCATGGTGGAGGTGGCCACTGGGCCCTCGGACTCAGCCACCCGTGAGAAGCTGCCCATGGTCCT
GAAGGTGCCCAGGCTGAACTCCTCACCTCTGGCCCTGTGTGACCGGCCCTTCTCCCTCCTGGGT
TTCGGAGACATTTTGGTGCCAGGGCTGCTGGTGGCCTACTGCCACAGGTTTGACATCCAGGTAC
AGTCCTCCAGGGTATACTTCGTGGCCTGCACCATCGCCTATGGCGTTGGCCTCCTTGTGACATT
CGTGGCACTGGCCCTGATGCAGCGTGGCCAGCCCGCTCTCCTCTACCTGGTGCCCTGCACGCTG
GTGACGAGCTGCGCTGTGGCGCTCTGGCGCCGGGAGCTGGGCGTGTTCTGGACGGGCAGCGGCT
TTGCGAAAGTCCTACCTCCATCTCCGTGGGCCCCAGCACCAGCCGACGGCCCGCAGCCTCCCAA
AGACTCTGCCACGCCACTCTCCCCGCAGCCGCCCAGCGAAGAACCAGCCACATCCCCCTGGCCT
GCTGAGCAGTCCCCAAAATCACGCACGTCCGAGGAGATGGGGGCTGGAGCCCCCATGCGGGAGC
CTGGGAGCCCAGCTGAATCCGAGGGCCGGGACCAGGCCCAGCCGTCCCCGGTAACCCAGCCTGG
CGCCTCGGCCTAGGGGAGGGGTGAGACGCTCGCTGCCGTGCCCGCCACACCAAGATGTTGGGGC
TGCCTGGCGCCCACTGGAGACAGACAGACAGACGCCTGTCCCCCGGGACCGAGGCCTGTGCCGT
CCCCACCCGCCCCAACATGGTGCTCATCCTTGCCGAGACCCCTGCGGTCTGTGCCCGCGCCCAG
CCCAGCTGCCCCGGCTGCACGCCTGCTGCTCCCAGCTCGCCCGGCTGCCACAAGCTCTCTGCGG
GTCCATCCTCCCCACCGGGGTCCGTCCTCGCAGGCCCTGCCCGGCCTCTCTGCAGACCCTCAAG
CGTCGTCTGCATGAGTGAGCAGGCGTGGGTGGACTCTGGCCGCGGCCACACTTGGTGCTCACCA
GCTGCTTCGGCCTTCAGGTGACCTCCCTCCCCACGGCATCCTGCTCTCCGGGTGGAAGAGCAGC
TTTCTGTCTCCCAGAAGGCATCGCTTTTCCCTCTTGAGCAGATCGGAGCCCCTGGGAGGTTTGG
AAGCTGCCTCCAAGCCTAGGACACGGACCAGTGGCCGGGGCGGCCTCTGGCCCCTGACGCTGGC
TGAGACAGGCCCGTGGGGCGGGGTTTTGGGGCGTGAACAAGGCTGGCAGTAAGTGGACAAGCTG
CTCCCCTGGCTAAGGCCCTGCCCTGCCCTCAGCCAGAGGTGCCTGGCCATGCCTGCACACTCCT
CCCCATTTTAATAAATGGTCGCAACTTCTAGAAGTCCTGCTGGTGCCACCTGGTGGGGTGGACG
TCTCTCAGACTGCCCTTCTGACAAGCAGGGGTGGGCGCCAGGCAGGCTGGGTCAGGCCCTCAGG
GGTCCCTGGAGCCCTGGGAGGGAGGGACTGGGTCGTGGGAGGTCCTGGTAGCTCCCGGCACCCA
ACCTCGCTTCCCGTGTGGGCCCCGTGTTGCTTTTCTGCTGAGAGGGGCTTGGGCCTCGGTTCTC
CCTGTGGCAGCGGCATTGGTGCCTGGGTTCTTAACCCTCTGGACCCAGCAGCTAGGAGCTTCTG
GAACCCACGAGGACATCTGCCACTGGCATGGTCTACTCACTGATGGGGTCCTCCTGACTCCAGG
GCAGAGACGTCCGTGCGGGAACTGACCGAGGCGTGGCCCCAGGCCCCGGCATCCTCCCCTCGCT
GCACGTGGTCACTTCCGAAGCAGCGCTCCCTGTGGCCGCAGAGACAGAGCCCGCACCCTGGCTG
TCTGTGGTGCCTGGGCCCCAGCTCCCGCCCGCCACCCGCCCTGTTGAGTGCGGCCTCCAGACTC
GAGTCCAGAATCTGTTTCTGTCAAGTCAGTCGTCCCCAGCTGCACACGGGGACTGCTGAGCGCT
GCGCTCTCACGGGTCTGTTCCGGACAGAGGGTGGCAGGGGTGAGCCCTGATCCCTTACAAAAAA
TACCAGCTTCCCAGGGAGTAATGGCGCCTTCACTGAAGCCATTTTGTACATGGGGACGGGGTGG
GGACGTCTCTTTTTTGGTGTTGGACGTTTGACCAGTGGGGAGGGGTTCAGAGGCGGCGGTCCTG
TCCTTGGCTCCGTCTGTCCGTGTGGCCTTGCTGCCATTCCGTCTGATCATTAAACACAGCTTTT
GATACATATGGCCCGGCCTCTGCCTCCGCAGTGCACGGCTTGGGGCATCTGCTCTGTGCAGGTC
CCGGTGAGCAGAACTGAGAGCTGGCAGGCCGCCTGGCTGTCCTGCAGAGGACGGATTGGAATTG
CCACCGCAGGGCCGGCCAGTGCTGTGAGGTGCCCAGCGTCACTCCCATGGGCTCTGTGGGCCAT
GTGGTCCCTGTCACGCTTCTCAGCTCTGCCACTGTTGCTGGAAAGCATCACAGACCATGTGTAA
AATGGGCCAAAATACCTTTTACAAAATTAAAATAGAGATGGGG

hide sequence

RefSeq Acc Id:

XM_011528138 ⟹ XP_011526440

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	19	2,328,684 - 2,355,095 (+)	NCBI

Sequence:

show sequence

TCGCGCCGTGTGGCTCTTCGCAGGCACCGCCCCGCGCCCTTTGACCTCCCCCACGCGCATGCGC
GGCGCATGCGTGGCCCGGGGTCTCGGGGCGTTGCTGGGAAACATCTGCCGTTGGTTGCGGCGGG
CACCGGCCGACATGGCGGCAGCGGTGGCGGCTGCGCTGGCGCGGCTTTTGGCGGCCTTTCTGCT
CCTCGCGGCCCAGGTGGCCTGTGAGTACGGCATGGTGCACGTGGTCTCCCAGGCCGGGGGCCCC
GAAGGCAAAGACTACTGCATCCTCTACAACCCGCAGTGGGCCCATCTTCCGCACGACCTCAGCA
AGGCATCTTTCCTGCAGCTGCGCAACTGGACGGCCTCCCTGCTCTGCTCCGCAGCCGACCTCCC
CGCCCGTGGCTTCAGCAACCAGATCCCGCTGGTGGCGCGGGGGAACTGCACCTTCTATGAGAAA
GTGAGGCTGGCCCAGGGCAGCGGAGCACGCGGGCTGCTCATCGTCAGCAGGGAGAGGCTGGTCC
CCCCGGGGGGTAATAAGACGCAGTATGATGAGATTGGCATTCCCGTGGCCCTGCTCAGCTACAA
AGACATGCTGGACATCTTCACGCGTTTCGGCCGCACGGTGAGGGCGGCGCTGTATGCGCCTAAG
GAGCCGGTGCTGGACTACAACATGGTCATCATCTTCATCATGGCTGTGGGCACCGTCGCCATCG
GCGGCTACTGGGCCGGGAGTCGGGACGTGAAGAAGTACATGAAGCACAAGCGCGACGATGGGCC
CGAGAAGCAGGAGGACGAGGCGGTGGACGTGACGCCGGTGATGACCTGCGTGTTTGTGGTGATG
TGCTGCTCCATGCTGGTGCTGCTCTACTATTTCTACGATCTCCTCGTGTACGTGGTCATCGGGA
TCTTCTGCCTGGCCTCCGCCACCGGCCTCTACAGCTGCCTGGCGCCCTGTGTGCGGCGGCTGCC
CTTCGGCAAGTGCAGGATCCCCAACAACAGCCTGCCCTACTTCCACAAGCGCCCGCAGGCCCGT
ATGCTGCTCCTGGCGCTCTTCTGCGTGGCCGTCAGCGTGGTGTGGGGCGTCTTCCGCAACGAGG
ACCAGTGGGCCTGGGTCCTCCAGGATGCCCTGGGCATCGCCTTCTGCCTCTACATGCTGAAGAC
CATCCGTCTGCCCACCTTCAAGGCCTGCACGCTGCTGCTGCTGGTGCTGTTCCTCTACGACATC
TTCTTCGTGTTCATCACGCCCTTCCTGACCAAGAGTGGGAGCAGCATCATGGTGGAGGTGGCCA
CTGGGCCCTCGGACTCAGCCACCCGTGAGAAGCTGCCCATGGTCCTGAAGGTGCCCAGGCTGAA
CTCCTCACCTCTGGCCCTGTGTGACCGGCCCTTCTCCCTCCTGGGTTTCGGAGACATTTTGGTG
CCAGGGCTGCTGGTGGCCTACTGCCACAGGTTTGACATCCAGGTACAGTCCTCCAGGGTATACT
TCGTGGCCTGCACCATCGCCTATGGCGTTGGCCTCCTTGTGACATTCGTGGCACTGGCCCTGAT
GCAGCGTGGCCAGCCCGCTCTCCTCTACCTGGTGCCCTGCACGCTGGTGACGAGCTGCGCTGTG
GCGCTCTGGCGCCGGGAGCTGGGCGTGTTCTGGACGGGCAGCGGCTTTGCGAAAGTCCTACCTC
CATCTCCGTGGGCCCCAGCACCAGCCGACGGCCCGCAGCCTCCCAAAGACTCTGCCACGCCACT
CTCCCCGCAGCCGCCCAGCGAAGAACCAGCCACATCCCCCTGGCCTGCTGAGCAGTCCCCAAAA
TCACGCACGTCCGAGGAGATGGGGGCTGGAGCCCCCATGCGGGAGCCTGGGAGCCCAGCTGAAT
CCGAGGGCCGGGACCAGGCCCAGCCGTCCCCGGTAACCCAGCCTGGCGCCTCGGCCTAGGGGAG
GGGTGAGACGCTCGCTGCCGTGCCCGCCACACCAAGATGTTGGGGCTGCCTGGCGCCCACTGGA
GACAGACAGACAGACGCCTGTCCCCCGGGACCGAGGCCTGTGCCGTCCCCACCCGCCCCAACAT
GGTGCTCATCCTTGCCGAGACCCCTGCGGTCTGTGCCCGCGCCCAGCCCAGCTGCCCCGGCTGC
ACGCCTGCTGCTCCCAGCTCGCCCGGCTGCCACAAGCTCTCTGCGGGTCCATCCTCCCCACCGG
GGTCCGTCCTCGCAGGCCCTGCCCGGCCTCTCTGCAGACCCTCAAGCGTCGTCTGCATGAGTGA
GCAGGCGTGGGTGGACTCTGGCCGCGGCCACACTTGGTGCTCACCAGCTGCTTCGGCCTTCAGG
TGACCTCCCTCCCCACGGCATCCTGCTCTCCGGGTGGAAGAGCAGCTTTCTGTCTCCCAGAAGG
CATCGCTTTTCCCTCTTGAGCAGATCGGAGCCCCTGGGAGGTTTGGAAGCTGCCTCCAAGCCTA
GGACACGGACCAGTGGCCGGGGCGGCCTCTGGCCCCTGACGCTGGCTGAGACAGGCCCGTGGGG
CGGGGTTTTGGGGCGTGAACAAGGCTGGCAGTAAGTGGACAAGCTGCTCCCCTGGCTAAGGCCC
TGCCCTGCCCTCAGCCAGAGGTGCCTGGCCATGCCTGCACACTCCTCCCCATTTTAATAAATGG
TCGCAACTTCTAGAAGTCCTGCTGGTGCCACCTGGTGGGGTGGACGTCTCTCAGACTGCCCTTC
TGACAAGCAGGGGTGGGCGCCAGGCAGGCTGGGTCAGGCCCTCAGGGGTCCCTGGAGCCCTGGG
AGGGAGGGACTGGGTCGTGGGAGGTCCTGGTAGCTCCCGGCACCCAACCTCGCTTCCCGTGTGG
GCCCCGTGTTGCTTTTCTGCTGAGAGGGGCTTGGGCCTCGGTTCTCCCTGTGGCAGCGGCATTG
GTGCCTGGGTTCTTAACCCTCTGGACCCAGCAGCTAGGAGCTTCTGGAACCCACGAGGACATCT
GCCACTGGCATGGTCTACTCACTGATGGGGTCCTCCTGACTCCAGGGCAGAGACGTCCGTGCGG
GAACTGACCGAGGCGTGGCCCCAGGCCCCGGCATCCTCCCCTCGCTGCACGTGGTCACTTCCGA
AGCAGCGCTCCCTGTGGCCGCAGAGACAGAGCCCGCACCCTGGCTGTCTGTGGTGCCTGGGCCC
CAGCTCCCGCCCGCCACCCGCCCTGTTGAGTGCGGCCTCCAGACTCGAGTCCAGAATCTGTTTC
TGTCAAGTCAGTCGTCCCCAGCTGCACACGGGGACTGCTGAGCGCTGCGCTCTCACGGGTCTGT
TCCGGACAGAGGGTGGCAGGGGTGAGCCCTGATCCCTTACAAAAAATACCAGCTTCCCAGGGAG
TAATGGCGCCTTCACTGAAGCCATTTTGTACATGGGGACGGGGTGGGGACGTCTCTTTTTTGGT
GTTGGACGTTTGACCAGTGGGGAGGGGTTCAGAGGCGGCGGTCCTGTCCTTGGCTCCGTCTGTC
CGTGTGGCCTTGCTGCCATTCCGTCTGATCATTAAACACAGCTTTTGATACA

hide sequence

RefSeq Acc Id:

XM_011528139 ⟹ XP_011526441

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	19	2,337,537 - 2,355,095 (+)	NCBI

Sequence:

show sequence

GTGGTCTCCCAGGCCGGGGGCCCCGAAGGCAAAGACTACTGCATCCTCTACAACCCGCAGTGGG
CCCATCTTCCGCACGACCTCAGCAAGGCATCTTTCCTGCAGCTGCGCAACTGGACGGCCTCCCT
GCTCTGCTCCGCAGCCGACCTCCCCGCCCGTGGCTTCAGCAACCAGATCCCGCTGGTGGCGCGG
GGGAACTGCACCTTCTATGAGAAAGTGAGGCTGGCCCAGGGCAGCGGAGCACGCGGGCTGCTCA
TCGTCAGCAGGGAGAGGCTGGTCCCCCCGGGGGGTAATAAGACGCAGTATGATGAGATTGGCAT
TCCCGTGGCCCTGCTCAGCTACAAAGACATGCTGGACATCTTCACGGCAGCGTTTCGGCCGCAC
GGTGAGGGCGGCGCTGTATGCGCCTAAGGAGCCGGTGCTGGACTACAACATGGTCATCATCTTC
ATCATGGCTGTGGGCACCGTCGCCATCGGCGGCTACTGGGCCGGGAGTCGGGACGTGAAGAAAA
GGTACATGAAGCACAAGCGCGACGATGGGCCCGAGAAGCAGGAGGACGAGGCGGTGGACGTGAC
GCCGGTGATGACCTGCGTGTTTGTGGTGATGTGCTGCTCCATGCTGGTGCTGCTCTACTATTTC
TACGATCTCCTCGTGTACGTGGTCATCGGGATCTTCTGCCTGGCCTCCGCCACCGGCCTCTACA
GCTGCCTGGCGCCCTGTGTGCGGCGGCTGCCCTTCGGCAAGTGCAGGATCCCCAACAACAGCCT
GCCCTACTTCCACAAGCGCCCGCAGGCCCGTATGCTGCTCCTGGCGCTCTTCTGCGTGGCCGTC
AGCGTGGTGTGGGGCGTCTTCCGCAACGAGGACCAGTGGGCCTGGGTCCTCCAGGATGCCCTGG
GCATCGCCTTCTGCCTCTACATGCTGAAGACCATCCGTCTGCCCACCTTCAAGGCCTGCACGCT
GCTGCTGCTGGTGCTGTTCCTCTACGACATCTTCTTCGTGTTCATCACGCCCTTCCTGACCAAG
AGTGGGAGCAGCATCATGGTGGAGGTGGCCACTGGGCCCTCGGACTCAGCCACCCGTGAGAAGC
TGCCCATGGTCCTGAAGGTGCCCAGGCTGAACTCCTCACCTCTGGCCCTGTGTGACCGGCCCTT
CTCCCTCCTGGGTTTCGGAGACATTTTGGTGCCAGGGCTGCTGGTGGCCTACTGCCACAGGTTT
GACATCCAGGTACAGTCCTCCAGGGTATACTTCGTGGCCTGCACCATCGCCTATGGCGTTGGCC
TCCTTGTGACATTCGTGGCACTGGCCCTGATGCAGCGTGGCCAGCCCGCTCTCCTCTACCTGGT
GCCCTGCACGCTGGTGACGAGCTGCGCTGTGGCGCTCTGGCGCCGGGAGCTGGGCGTGTTCTGG
ACGGGCAGCGGCTTTGCGAAAGTCCTACCTCCATCTCCGTGGGCCCCAGCACCAGCCGACGGCC
CGCAGCCTCCCAAAGACTCTGCCACGCCACTCTCCCCGCAGCCGCCCAGCGAAGAACCAGCCAC
ATCCCCCTGGCCTGCTGAGCAGTCCCCAAAATCACGCACGTCCGAGGAGATGGGGGCTGGAGCC
CCCATGCGGGAGCCTGGGAGCCCAGCTGAATCCGAGGGCCGGGACCAGGCCCAGCCGTCCCCGG
TAACCCAGCCTGGCGCCTCGGCCTAGGGGAGGGGTGAGACGCTCGCTGCCGTGCCCGCCACACC
AAGATGTTGGGGCTGCCTGGCGCCCACTGGAGACAGACAGACAGACGCCTGTCCCCCGGGACCG
AGGCCTGTGCCGTCCCCACCCGCCCCAACATGGTGCTCATCCTTGCCGAGACCCCTGCGGTCTG
TGCCCGCGCCCAGCCCAGCTGCCCCGGCTGCACGCCTGCTGCTCCCAGCTCGCCCGGCTGCCAC
AAGCTCTCTGCGGGTCCATCCTCCCCACCGGGGTCCGTCCTCGCAGGCCCTGCCCGGCCTCTCT
GCAGACCCTCAAGCGTCGTCTGCATGAGTGAGCAGGCGTGGGTGGACTCTGGCCGCGGCCACAC
TTGGTGCTCACCAGCTGCTTCGGCCTTCAGGTGACCTCCCTCCCCACGGCATCCTGCTCTCCGG
GTGGAAGAGCAGCTTTCTGTCTCCCAGAAGGCATCGCTTTTCCCTCTTGAGCAGATCGGAGCCC
CTGGGAGGTTTGGAAGCTGCCTCCAAGCCTAGGACACGGACCAGTGGCCGGGGCGGCCTCTGGC
CCCTGACGCTGGCTGAGACAGGCCCGTGGGGCGGGGTTTTGGGGCGTGAACAAGGCTGGCAGTA
AGTGGACAAGCTGCTCCCCTGGCTAAGGCCCTGCCCTGCCCTCAGCCAGAGGTGCCTGGCCATG
CCTGCACACTCCTCCCCATTTTAATAAATGGTCGCAACTTCTAGAAGTCCTGCTGGTGCCACCT
GGTGGGGTGGACGTCTCTCAGACTGCCCTTCTGACAAGCAGGGGTGGGCGCCAGGCAGGCTGGG
TCAGGCCCTCAGGGGTCCCTGGAGCCCTGGGAGGGAGGGACTGGGTCGTGGGAGGTCCTGGTAG
CTCCCGGCACCCAACCTCGCTTCCCGTGTGGGCCCCGTGTTGCTTTTCTGCTGAGAGGGGCTTG
GGCCTCGGTTCTCCCTGTGGCAGCGGCATTGGTGCCTGGGTTCTTAACCCTCTGGACCCAGCAG
CTAGGAGCTTCTGGAACCCACGAGGACATCTGCCACTGGCATGGTCTACTCACTGATGGGGTCC
TCCTGACTCCAGGGCAGAGACGTCCGTGCGGGAACTGACCGAGGCGTGGCCCCAGGCCCCGGCA
TCCTCCCCTCGCTGCACGTGGTCACTTCCGAAGCAGCGCTCCCTGTGGCCGCAGAGACAGAGCC
CGCACCCTGGCTGTCTGTGGTGCCTGGGCCCCAGCTCCCGCCCGCCACCCGCCCTGTTGAGTGC
GGCCTCCAGACTCGAGTCCAGAATCTGTTTCTGTCAAGTCAGTCGTCCCCAGCTGCACACGGGG
ACTGCTGAGCGCTGCGCTCTCACGGGTCTGTTCCGGACAGAGGGTGGCAGGGGTGAGCCCTGAT
CCCTTACAAAAAATACCAGCTTCCCAGGGAGTAATGGCGCCTTCACTGAAGCCATTTTGTACAT
GGGGACGGGGTGGGGACGTCTCTTTTTTGGTGTTGGACGTTTGACCAGTGGGGAGGGGTTCAGA
GGCGGCGGTCCTGTCCTTGGCTCCGTCTGTCCGTGTGGCCTTGCTGCCATTCCGTCTGATCATT
AAACACAGCTTTTGATACA

hide sequence

RefSeq Acc Id:

XM_011528140 ⟹ XP_011526442

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	19	2,339,201 - 2,355,095 (+)	NCBI

Sequence:

show sequence

GTGAAGAAGTGAGTTTCGCATCGTGCGTGTGCTGTGACGGGGTCGGGCGGCTCTGACACGGGCC
GGGACGGCCAGTCTTCCAGAACAGCAAAGGTACATGAAGCACAAGCGCGACGATGGGCCCGAGA
AGCAGGAGGACGAGGCGGTGGACGTGACGCCGGTGATGACCTGCGTGTTTGTGGTGATGTGCTG
CTCCATGCTGGTGCTGCTCTACTATTTCTACGATCTCCTCGTGTACGTGGTCATCGGGATCTTC
TGCCTGGCCTCCGCCACCGGCCTCTACAGCTGCCTGGCGCCCTGTGTGCGGCGGCTGCCCTTCG
GCAAGTGCAGGATCCCCAACAACAGCCTGCCCTACTTCCACAAGCGCCCGCAGGCCCGTATGCT
GCTCCTGGCGCTCTTCTGCGTGGCCGTCAGCGTGGTGTGGGGCGTCTTCCGCAACGAGGACCAG
TGGGCCTGGGTCCTCCAGGATGCCCTGGGCATCGCCTTCTGCCTCTACATGCTGAAGACCATCC
GTCTGCCCACCTTCAAGGCCTGCACGCTGCTGCTGCTGGTGCTGTTCCTCTACGACATCTTCTT
CGTGTTCATCACGCCCTTCCTGACCAAGAGTGGGAGCAGCATCATGGTGGAGGTGGCCACTGGG
CCCTCGGACTCAGCCACCCGTGAGAAGCTGCCCATGGTCCTGAAGGTGCCCAGGCTGAACTCCT
CACCTCTGGCCCTGTGTGACCGGCCCTTCTCCCTCCTGGGTTTCGGAGACATTTTGGTGCCAGG
GCTGCTGGTGGCCTACTGCCACAGGTTTGACATCCAGGTACAGTCCTCCAGGGTATACTTCGTG
GCCTGCACCATCGCCTATGGCGTTGGCCTCCTTGTGACATTCGTGGCACTGGCCCTGATGCAGC
GTGGCCAGCCCGCTCTCCTCTACCTGGTGCCCTGCACGCTGGTGACGAGCTGCGCTGTGGCGCT
CTGGCGCCGGGAGCTGGGCGTGTTCTGGACGGGCAGCGGCTTTGCGAAAGTCCTACCTCCATCT
CCGTGGGCCCCAGCACCAGCCGACGGCCCGCAGCCTCCCAAAGACTCTGCCACGCCACTCTCCC
CGCAGCCGCCCAGCGAAGAACCAGCCACATCCCCCTGGCCTGCTGAGCAGTCCCCAAAATCACG
CACGTCCGAGGAGATGGGGGCTGGAGCCCCCATGCGGGAGCCTGGGAGCCCAGCTGAATCCGAG
GGCCGGGACCAGGCCCAGCCGTCCCCGGTAACCCAGCCTGGCGCCTCGGCCTAGGGGAGGGGTG
AGACGCTCGCTGCCGTGCCCGCCACACCAAGATGTTGGGGCTGCCTGGCGCCCACTGGAGACAG
ACAGACAGACGCCTGTCCCCCGGGACCGAGGCCTGTGCCGTCCCCACCCGCCCCAACATGGTGC
TCATCCTTGCCGAGACCCCTGCGGTCTGTGCCCGCGCCCAGCCCAGCTGCCCCGGCTGCACGCC
TGCTGCTCCCAGCTCGCCCGGCTGCCACAAGCTCTCTGCGGGTCCATCCTCCCCACCGGGGTCC
GTCCTCGCAGGCCCTGCCCGGCCTCTCTGCAGACCCTCAAGCGTCGTCTGCATGAGTGAGCAGG
CGTGGGTGGACTCTGGCCGCGGCCACACTTGGTGCTCACCAGCTGCTTCGGCCTTCAGGTGACC
TCCCTCCCCACGGCATCCTGCTCTCCGGGTGGAAGAGCAGCTTTCTGTCTCCCAGAAGGCATCG
CTTTTCCCTCTTGAGCAGATCGGAGCCCCTGGGAGGTTTGGAAGCTGCCTCCAAGCCTAGGACA
CGGACCAGTGGCCGGGGCGGCCTCTGGCCCCTGACGCTGGCTGAGACAGGCCCGTGGGGCGGGG
TTTTGGGGCGTGAACAAGGCTGGCAGTAAGTGGACAAGCTGCTCCCCTGGCTAAGGCCCTGCCC
TGCCCTCAGCCAGAGGTGCCTGGCCATGCCTGCACACTCCTCCCCATTTTAATAAATGGTCGCA
ACTTCTAGAAGTCCTGCTGGTGCCACCTGGTGGGGTGGACGTCTCTCAGACTGCCCTTCTGACA
AGCAGGGGTGGGCGCCAGGCAGGCTGGGTCAGGCCCTCAGGGGTCCCTGGAGCCCTGGGAGGGA
GGGACTGGGTCGTGGGAGGTCCTGGTAGCTCCCGGCACCCAACCTCGCTTCCCGTGTGGGCCCC
GTGTTGCTTTTCTGCTGAGAGGGGCTTGGGCCTCGGTTCTCCCTGTGGCAGCGGCATTGGTGCC
TGGGTTCTTAACCCTCTGGACCCAGCAGCTAGGAGCTTCTGGAACCCACGAGGACATCTGCCAC
TGGCATGGTCTACTCACTGATGGGGTCCTCCTGACTCCAGGGCAGAGACGTCCGTGCGGGAACT
GACCGAGGCGTGGCCCCAGGCCCCGGCATCCTCCCCTCGCTGCACGTGGTCACTTCCGAAGCAG
CGCTCCCTGTGGCCGCAGAGACAGAGCCCGCACCCTGGCTGTCTGTGGTGCCTGGGCCCCAGCT
CCCGCCCGCCACCCGCCCTGTTGAGTGCGGCCTCCAGACTCGAGTCCAGAATCTGTTTCTGTCA
AGTCAGTCGTCCCCAGCTGCACACGGGGACTGCTGAGCGCTGCGCTCTCACGGGTCTGTTCCGG
ACAGAGGGTGGCAGGGGTGAGCCCTGATCCCTTACAAAAAATACCAGCTTCCCAGGGAGTAATG
GCGCCTTCACTGAAGCCATTTTGTACATGGGGACGGGGTGGGGACGTCTCTTTTTTGGTGTTGG
ACGTTTGACCAGTGGGGAGGGGTTCAGAGGCGGCGGTCCTGTCCTTGGCTCCGTCTGTCCGTGT
GGCCTTGCTGCCATTCCGTCTGATCATTAAACACAGCTTTTGATACA

hide sequence

RefSeq Acc Id:

XM_017027018 ⟹ XP_016882507

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	19	2,337,632 - 2,355,095 (+)	NCBI

Sequence:

show sequence

GTGGTCTCCCAGGCCGGGGGCCCCGAAGGCAAAGACTACTGCATCCTCTACAACCCGCAGTGGG
CCCATCTTCCGCACGACCTCAGCAAGGCATCTTTCCTGCAGCTGCGCAACTGGACGGCCTCCCT
GCTCTGCTCCGCAGCCGACCTCCCCGCCCGTGGCTTCAGCAACCAGATCCCGCTGGTGGCGCGG
GGGAACTGCACCTTCTATGAGAAAGTGAGGCTGGCCCAGGGCAGCGGAGCACGCGGGCTGCTCA
TCGTCAGCAGGGAGAGGCTGGTCCCCCCGGGGGGTAATAAGACGCAGTATGATGAGATTGGCAT
TCCCGTGGCCCTGCTCAGCTACAAAGACATGCTGGACATCTTCACGGCAGCGTTTCGGCCGCAC
GGTGAGGGCGGCGCTGTATGCGCCTAAGGAGCCGGTGCTGGACTACAACATGGTCATCATCTTC
ATCATGGCTGTGGGCACCGTCGCCATCGGCGGCTACTGGGCCGGGAGTCGGGACGTGAAGAAGT
ACATGAAGCACAAGCGCGACGATGGGCCCGAGAAGCAGGAGGACGAGGCGGTGGACGTGACGCC
GGTGATGACCTGCGTGTTTGTGGTGATGTGCTGCTCCATGCTGGTGCTGCTCTACTATTTCTAC
GATCTCCTCGTGTACGTGGTCATCGGGATCTTCTGCCTGGCCTCCGCCACCGGCCTCTACAGCT
GCCTGGCGCCCTGTGTGCGGCGGCTGCCCTTCGGCAAGTGCAGGATCCCCAACAACAGCCTGCC
CTACTTCCACAAGCGCCCGCAGGCCCGTATGCTGCTCCTGGCGCTCTTCTGCGTGGCCGTCAGC
GTGGTGTGGGGCGTCTTCCGCAACGAGGACCAGTGGGCCTGGGTCCTCCAGGATGCCCTGGGCA
TCGCCTTCTGCCTCTACATGCTGAAGACCATCCGTCTGCCCACCTTCAAGGCCTGCACGCTGCT
GCTGCTGGTGCTGTTCCTCTACGACATCTTCTTCGTGTTCATCACGCCCTTCCTGACCAAGAGT
GGGAGCAGCATCATGGTGGAGGTGGCCACTGGGCCCTCGGACTCAGCCACCCGTGAGAAGCTGC
CCATGGTCCTGAAGGTGCCCAGGCTGAACTCCTCACCTCTGGCCCTGTGTGACCGGCCCTTCTC
CCTCCTGGGTTTCGGAGACATTTTGGTGCCAGGGCTGCTGGTGGCCTACTGCCACAGGTTTGAC
ATCCAGGTACAGTCCTCCAGGGTATACTTCGTGGCCTGCACCATCGCCTATGGCGTTGGCCTCC
TTGTGACATTCGTGGCACTGGCCCTGATGCAGCGTGGCCAGCCCGCTCTCCTCTACCTGGTGCC
CTGCACGCTGGTGACGAGCTGCGCTGTGGCGCTCTGGCGCCGGGAGCTGGGCGTGTTCTGGACG
GGCAGCGGCTTTGCGAAAGTCCTACCTCCATCTCCGTGGGCCCCAGCACCAGCCGACGGCCCGC
AGCCTCCCAAAGACTCTGCCACGCCACTCTCCCCGCAGCCGCCCAGCGAAGAACCAGCCACATC
CCCCTGGCCTGCTGAGCAGTCCCCAAAATCACGCACGTCCGAGGAGATGGGGGCTGGAGCCCCC
ATGCGGGAGCCTGGGAGCCCAGCTGAATCCGAGGGCCGGGACCAGGCCCAGCCGTCCCCGGTAA
CCCAGCCTGGCGCCTCGGCCTAGGGGAGGGGTGAGACGCTCGCTGCCGTGCCCGCCACACCAAG
ATGTTGGGGCTGCCTGGCGCCCACTGGAGACAGACAGACAGACGCCTGTCCCCCGGGACCGAGG
CCTGTGCCGTCCCCACCCGCCCCAACATGGTGCTCATCCTTGCCGAGACCCCTGCGGTCTGTGC
CCGCGCCCAGCCCAGCTGCCCCGGCTGCACGCCTGCTGCTCCCAGCTCGCCCGGCTGCCACAAG
CTCTCTGCGGGTCCATCCTCCCCACCGGGGTCCGTCCTCGCAGGCCCTGCCCGGCCTCTCTGCA
GACCCTCAAGCGTCGTCTGCATGAGTGAGCAGGCGTGGGTGGACTCTGGCCGCGGCCACACTTG
GTGCTCACCAGCTGCTTCGGCCTTCAGGTGACCTCCCTCCCCACGGCATCCTGCTCTCCGGGTG
GAAGAGCAGCTTTCTGTCTCCCAGAAGGCATCGCTTTTCCCTCTTGAGCAGATCGGAGCCCCTG
GGAGGTTTGGAAGCTGCCTCCAAGCCTAGGACACGGACCAGTGGCCGGGGCGGCCTCTGGCCCC
TGACGCTGGCTGAGACAGGCCCGTGGGGCGGGGTTTTGGGGCGTGAACAAGGCTGGCAGTAAGT
GGACAAGCTGCTCCCCTGGCTAAGGCCCTGCCCTGCCCTCAGCCAGAGGTGCCTGGCCATGCCT
GCACACTCCTCCCCATTTTAATAAATGGTCGCAACTTCTAGAAGTCCTGCTGGTGCCACCTGGT
GGGGTGGACGTCTCTCAGACTGCCCTTCTGACAAGCAGGGGTGGGCGCCAGGCAGGCTGGGTCA
GGCCCTCAGGGGTCCCTGGAGCCCTGGGAGGGAGGGACTGGGTCGTGGGAGGTCCTGGTAGCTC
CCGGCACCCAACCTCGCTTCCCGTGTGGGCCCCGTGTTGCTTTTCTGCTGAGAGGGGCTTGGGC
CTCGGTTCTCCCTGTGGCAGCGGCATTGGTGCCTGGGTTCTTAACCCTCTGGACCCAGCAGCTA
GGAGCTTCTGGAACCCACGAGGACATCTGCCACTGGCATGGTCTACTCACTGATGGGGTCCTCC
TGACTCCAGGGCAGAGACGTCCGTGCGGGAACTGACCGAGGCGTGGCCCCAGGCCCCGGCATCC
TCCCCTCGCTGCACGTGGTCACTTCCGAAGCAGCGCTCCCTGTGGCCGCAGAGACAGAGCCCGC
ACCCTGGCTGTCTGTGGTGCCTGGGCCCCAGCTCCCGCCCGCCACCCGCCCTGTTGAGTGCGGC
CTCCAGACTCGAGTCCAGAATCTGTTTCTGTCAAGTCAGTCGTCCCCAGCTGCACACGGGGACT
GCTGAGCGCTGCGCTCTCACGGGTCTGTTCCGGACAGAGGGTGGCAGGGGTGAGCCCTGATCCC
TTACAAAAAATACCAGCTTCCCAGGGAGTAATGGCGCCTTCACTGAAGCCATTTTGTACATGGG
GACGGGGTGGGGACGTCTCTTTTTTGGTGTTGGACGTTTGACCAGTGGGGAGGGGTTCAGAGGC
GGCGGTCCTGTCCTTGGCTCCGTCTGTCCGTGTGGCCTTGCTGCCATTCCGTCTGATCATTAAA
CACAGCTTTTGATACA

hide sequence

RefSeq Acc Id:

XM_054321504 ⟹ XP_054177479

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	19	2,302,357 - 2,328,755 (+)	NCBI

RefSeq Acc Id:

XM_054321505 ⟹ XP_054177480

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	19	2,311,212 - 2,328,755 (+)	NCBI

RefSeq Acc Id:

XM_054321506 ⟹ XP_054177481

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	19	2,311,307 - 2,328,755 (+)	NCBI

RefSeq Acc Id:

XM_054321507 ⟹ XP_054177482

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	19	2,312,878 - 2,328,755 (+)	NCBI

Protein Sequences


Protein RefSeqs	NP_001070706	(Get FASTA)	NCBI Sequence Viewer
	NP_694533	(Get FASTA)	NCBI Sequence Viewer
	XP_011526440	(Get FASTA)	NCBI Sequence Viewer
	XP_011526441	(Get FASTA)	NCBI Sequence Viewer
	XP_011526442	(Get FASTA)	NCBI Sequence Viewer
	XP_016882507	(Get FASTA)	NCBI Sequence Viewer
	XP_054177479	(Get FASTA)	NCBI Sequence Viewer
	XP_054177480	(Get FASTA)	NCBI Sequence Viewer
	XP_054177481	(Get FASTA)	NCBI Sequence Viewer
	XP_054177482	(Get FASTA)	NCBI Sequence Viewer
GenBank Protein	AAC05601	(Get FASTA)	NCBI Sequence Viewer
	AAG45441	(Get FASTA)	NCBI Sequence Viewer
	AAH01788	(Get FASTA)	NCBI Sequence Viewer
	AAH28391	(Get FASTA)	NCBI Sequence Viewer
	AAH93046	(Get FASTA)	NCBI Sequence Viewer
	AAO12540	(Get FASTA)	NCBI Sequence Viewer
	BAA96056	(Get FASTA)	NCBI Sequence Viewer
	CAB96951	(Get FASTA)	NCBI Sequence Viewer
	CAC87788	(Get FASTA)	NCBI Sequence Viewer
	CAD13134	(Get FASTA)	NCBI Sequence Viewer
	EAW69383	(Get FASTA)	NCBI Sequence Viewer
	EAW69384	(Get FASTA)	NCBI Sequence Viewer
	EAW69385	(Get FASTA)	NCBI Sequence Viewer
	EAW69386	(Get FASTA)	NCBI Sequence Viewer
	EAW69387	(Get FASTA)	NCBI Sequence Viewer
	EAW69388	(Get FASTA)	NCBI Sequence Viewer
Ensembl Protein	ENSP00000478298
	ENSP00000478298.1
	ENSP00000478510
	ENSP00000478510.1
	ENSP00000480813.1
GenBank Protein	Q8TCT7	(Get FASTA)	NCBI Sequence Viewer

RefSeq Acc Id:	NP_001070706 ⟸ NM_001077238
- Peptide Label:	isoform 3 precursor
- UniProtKB:	Q8TCT7 (UniProtKB/Swiss-Prot)
- Sequence:	show sequence MAAAVAAALARLLAAFLLLAAQVACEYGMVHVVSQAGGPEGKDYCILYNPQWAHLPHDLSKASF LQLRNWTASLLCSAADLPARGFSNQIPLVARGNCTFYEKVRLAQGSGARGLLIVSRERLVPPGG NKTQYDEIGIPVALLSYKDMLDIFTRFGRTVRAALYAPKEPVLDYNMVIIFIMAVGTVAIGGYW AGSRDVKKRYMKHKRDDGPEKQEDEAVDVTPVMTCVFVVMCCSMLVLLYYFYDLLVYVVIGIFC LASATGLYSCLAPCVRRLPFGKCRIPNNSLPYFHKRPQARMLLLALFCVAVSVVWGVFRNEDQW AWVLQDALGIAFCLYMLKTIRLPTFKACTLLLLVLFLYDIFFVFITPFLTKSGSSIMVEVATGP SDSATREKLPMVLKVPRLNSSPLALCDRPFSLLGFGDILVPGLLVAYCHRFDIQVQSSRVYFVA CTIAYGVGLLVTFVALALMQRGQPALLYLVPCTLVTSCAVALWRRELGVFWTGSGFAVNTSLL hide sequence

RefSeq Acc Id:	NP_694533 ⟸ NM_152988
- Peptide Label:	isoform 2 precursor
- UniProtKB:	Q9NPN2 (UniProtKB/Swiss-Prot), Q9H3M4 (UniProtKB/Swiss-Prot), Q9BUY6 (UniProtKB/Swiss-Prot), Q8IUH9 (UniProtKB/Swiss-Prot), Q567S3 (UniProtKB/Swiss-Prot), O60365 (UniProtKB/Swiss-Prot), D6W609 (UniProtKB/Swiss-Prot), Q9P1Z6 (UniProtKB/Swiss-Prot), Q8TCT7 (UniProtKB/Swiss-Prot)
- Sequence:	show sequence MAAAVAAALARLLAAFLLLAAQVACEYGMVHVVSQAGGPEGKDYCILYNPQWAHLPHDLSKASF LQLRNWTASLLCSAADLPARGFSNQIPLVARGNCTFYEKVRLAQGSGARGLLIVSRERLVPPGG NKTQYDEIGIPVALLSYKDMLDIFTRFGRTVRAALYAPKEPVLDYNMVIIFIMAVGTVAIGGYW AGSRDVKKRYMKHKRDDGPEKQEDEAVDVTPVMTCVFVVMCCSMLVLLYYFYDLLVYVVIGIFC LASATGLYSCLAPCVRRLPFGKCRIPNNSLPYFHKRPQARMLLLALFCVAVSVVWGVFRNEDQW AWVLQDALGIAFCLYMLKTIRLPTFKACTLLLLVLFLYDIFFVFITPFLTKSGSSIMVEVATGP SDSATREKLPMVLKVPRLNSSPLALCDRPFSLLGFGDILVPGLLVAYCHRFDIQVQSSRVYFVA CTIAYGVGLLVTFVALALMQRGQPALLYLVPCTLVTSCAVALWRRELGVFWTGSGFAKVLPPSP WAPAPADGPQPPKDSATPLSPQPPSEEPATSPWPAEQSPKSRTSEEMGAGAPMREPGSPAESEG RDQAQPSPVTQPGASA hide sequence

RefSeq Acc Id:

XP_011526440 ⟸ XM_011528138

- Peptide Label:

isoform X1

- Sequence:

show sequence

MRGACVARGLGALLGNICRWLRRAPADMAAAVAAALARLLAAFLLLAAQVACEYGMVHVVSQAG
GPEGKDYCILYNPQWAHLPHDLSKASFLQLRNWTASLLCSAADLPARGFSNQIPLVARGNCTFY
EKVRLAQGSGARGLLIVSRERLVPPGGNKTQYDEIGIPVALLSYKDMLDIFTRFGRTVRAALYA
PKEPVLDYNMVIIFIMAVGTVAIGGYWAGSRDVKKYMKHKRDDGPEKQEDEAVDVTPVMTCVFV
VMCCSMLVLLYYFYDLLVYVVIGIFCLASATGLYSCLAPCVRRLPFGKCRIPNNSLPYFHKRPQ
ARMLLLALFCVAVSVVWGVFRNEDQWAWVLQDALGIAFCLYMLKTIRLPTFKACTLLLLVLFLY
DIFFVFITPFLTKSGSSIMVEVATGPSDSATREKLPMVLKVPRLNSSPLALCDRPFSLLGFGDI
LVPGLLVAYCHRFDIQVQSSRVYFVACTIAYGVGLLVTFVALALMQRGQPALLYLVPCTLVTSC
AVALWRRELGVFWTGSGFAKVLPPSPWAPAPADGPQPPKDSATPLSPQPPSEEPATSPWPAEQS
PKSRTSEEMGAGAPMREPGSPAESEGRDQAQPSPVTQPGASA

hide sequence

RefSeq Acc Id:

XP_011526441 ⟸ XM_011528139

- Peptide Label:

isoform X2

- Sequence:

show sequence

MMRLAFPWPCSATKTCWTSSRQRFGRTVRAALYAPKEPVLDYNMVIIFIMAVGTVAIGGYWAGS
RDVKKRYMKHKRDDGPEKQEDEAVDVTPVMTCVFVVMCCSMLVLLYYFYDLLVYVVIGIFCLAS
ATGLYSCLAPCVRRLPFGKCRIPNNSLPYFHKRPQARMLLLALFCVAVSVVWGVFRNEDQWAWV
LQDALGIAFCLYMLKTIRLPTFKACTLLLLVLFLYDIFFVFITPFLTKSGSSIMVEVATGPSDS
ATREKLPMVLKVPRLNSSPLALCDRPFSLLGFGDILVPGLLVAYCHRFDIQVQSSRVYFVACTI
AYGVGLLVTFVALALMQRGQPALLYLVPCTLVTSCAVALWRRELGVFWTGSGFAKVLPPSPWAP
APADGPQPPKDSATPLSPQPPSEEPATSPWPAEQSPKSRTSEEMGAGAPMREPGSPAESEGRDQ
AQPSPVTQPGASA

hide sequence

RefSeq Acc Id:

XP_011526442 ⟸ XM_011528140

- Peptide Label:

isoform X4

- Sequence:

show sequence

MKHKRDDGPEKQEDEAVDVTPVMTCVFVVMCCSMLVLLYYFYDLLVYVVIGIFCLASATGLYSC
LAPCVRRLPFGKCRIPNNSLPYFHKRPQARMLLLALFCVAVSVVWGVFRNEDQWAWVLQDALGI
AFCLYMLKTIRLPTFKACTLLLLVLFLYDIFFVFITPFLTKSGSSIMVEVATGPSDSATREKLP
MVLKVPRLNSSPLALCDRPFSLLGFGDILVPGLLVAYCHRFDIQVQSSRVYFVACTIAYGVGLL
VTFVALALMQRGQPALLYLVPCTLVTSCAVALWRRELGVFWTGSGFAKVLPPSPWAPAPADGPQ
PPKDSATPLSPQPPSEEPATSPWPAEQSPKSRTSEEMGAGAPMREPGSPAESEGRDQAQPSPVT
QPGASA

hide sequence

RefSeq Acc Id:

XP_016882507 ⟸ XM_017027018

- Peptide Label:

isoform X3

- Sequence:

show sequence

MMRLAFPWPCSATKTCWTSSRQRFGRTVRAALYAPKEPVLDYNMVIIFIMAVGTVAIGGYWAGS
RDVKKYMKHKRDDGPEKQEDEAVDVTPVMTCVFVVMCCSMLVLLYYFYDLLVYVVIGIFCLASA
TGLYSCLAPCVRRLPFGKCRIPNNSLPYFHKRPQARMLLLALFCVAVSVVWGVFRNEDQWAWVL
QDALGIAFCLYMLKTIRLPTFKACTLLLLVLFLYDIFFVFITPFLTKSGSSIMVEVATGPSDSA
TREKLPMVLKVPRLNSSPLALCDRPFSLLGFGDILVPGLLVAYCHRFDIQVQSSRVYFVACTIA
YGVGLLVTFVALALMQRGQPALLYLVPCTLVTSCAVALWRRELGVFWTGSGFAKVLPPSPWAPA
PADGPQPPKDSATPLSPQPPSEEPATSPWPAEQSPKSRTSEEMGAGAPMREPGSPAESEGRDQA
QPSPVTQPGASA

hide sequence

Ensembl Acc Id:

ENSP00000482470 ⟸ ENST00000621568

Ensembl Acc Id:

ENSP00000478510 ⟸ ENST00000610743

Ensembl Acc Id:

ENSP00000480311 ⟸ ENST00000586332

Ensembl Acc Id:

ENSP00000477658 ⟸ ENST00000612623

Ensembl Acc Id:

ENSP00000478298 ⟸ ENST00000613503

Ensembl Acc Id:

ENSP00000482362 ⟸ ENST00000614794

Ensembl Acc Id:

ENSP00000480813 ⟸ ENST00000618220

RefSeq Acc Id:	XP_054177479 ⟸ XM_054321504
- Peptide Label:	isoform X1

RefSeq Acc Id:	XP_054177480 ⟸ XM_054321505
- Peptide Label:	isoform X2

RefSeq Acc Id:	XP_054177481 ⟸ XM_054321506
- Peptide Label:	isoform X3

RefSeq Acc Id:	XP_054177482 ⟸ XM_054321507
- Peptide Label:	isoform X4

Protein Domains

Protein Structures

Name	Modeler	Protein Id	AA Range	Protein Structure
AF-Q8TCT7-F1-model_v2	AlphaFold	Q8TCT7	1-592	view protein structure

Promoters

RGD ID:

6795391

Promoter ID:

HG_KWN:28462

Type:

CpG-Island

SO ACC ID:

SO:0000170

Source:

MPROMDB

Tissues & Cell Lines:

CD4+TCell, Jurkat, K562, Lymphoblastoid, NB4

Transcripts:

ENST00000382189, NM_001077238, NM_152988, UC002LVR.1, UC002LVS.1, UC010DSY.1, UC010DSZ.1

Position:

Human Assembly	Chr	Position (strand)	Source
Build 36	19	2,278,786 - 2,279,652 (+)	MPROMDB

RGD ID:

7237935

Promoter ID:

EPDNEW_H24713

Type:

initiation region

Name:

SPPL2B_1

Description:

signal peptide peptidase like 2B

SO ACC ID:

SO:0000170

Source:

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

Alternative Promoters:

null; see alsoEPDNEW_H24714

Experiment Methods:

Single-end sequencing.

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	19	2,328,684 - 2,328,744	EPDNEW

RGD ID:

7237937

Promoter ID:

EPDNEW_H24714

Type:

initiation region

Name:

SPPL2B_2

Description:

signal peptide peptidase like 2B

SO ACC ID:

SO:0000170

Source:

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

Alternative Promoters:

null; see alsoEPDNEW_H24713

Experiment Methods:

Single-end sequencing.; Paired-end sequencing.

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	19	2,341,015 - 2,341,075	EPDNEW

Additional Information

External Database Links

Database	Acc Id	Source(s)
AGR Gene	HGNC:30627	AgrOrtholog
COSMIC	SPPL2B	COSMIC
Ensembl Genes	ENSG00000005206	Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript	ENST00000610743	ENTREZGENE
	ENST00000610743.4	UniProtKB/Swiss-Prot
	ENST00000613503	ENTREZGENE
	ENST00000613503.5	UniProtKB/Swiss-Prot
	ENST00000618220.4	UniProtKB/Swiss-Prot
Gene3D-CATH	3.50.30.30	UniProtKB/Swiss-Prot
GTEx	ENSG00000005206	GTEx
HGNC ID	HGNC:30627	ENTREZGENE
Human Proteome Map	SPPL2B	Human Proteome Map
InterPro	PA_dom_sf	UniProtKB/Swiss-Prot
	PA_domain	UniProtKB/Swiss-Prot
	Peptidase_A22B_SPP	UniProtKB/Swiss-Prot
	Preselin/SPP	UniProtKB/Swiss-Prot
KEGG Report	hsa:56928	UniProtKB/Swiss-Prot
NCBI Gene	56928	ENTREZGENE
OMIM	608239	OMIM
PANTHER	PTHR12174	UniProtKB/Swiss-Prot
	PTHR12174:SF39	UniProtKB/Swiss-Prot
Pfam	Peptidase_A22B	UniProtKB/Swiss-Prot
	PF02225	UniProtKB/Swiss-Prot
PharmGKB	PA166049002	PharmGKB
SMART	PSN	UniProtKB/Swiss-Prot
Superfamily-SCOP	PA domain	UniProtKB/Swiss-Prot
UniProt	A0A087WT77_HUMAN	UniProtKB/TrEMBL
	A0A087WWL4_HUMAN	UniProtKB/TrEMBL
	A0A087WZ50_HUMAN	UniProtKB/TrEMBL
	A0A087WZ93_HUMAN	UniProtKB/TrEMBL
	D6W609	ENTREZGENE
	O60365	ENTREZGENE
	Q567S3	ENTREZGENE
	Q8IUH9	ENTREZGENE
	Q8TCT7	ENTREZGENE
	Q9BUY6	ENTREZGENE
	Q9H3M4	ENTREZGENE
	Q9NPN2	ENTREZGENE
	Q9P1Z6	ENTREZGENE
	SPP2B_HUMAN	UniProtKB/Swiss-Prot
UniProt Secondary	D6W609	UniProtKB/Swiss-Prot
	O60365	UniProtKB/Swiss-Prot
	Q567S3	UniProtKB/Swiss-Prot
	Q8IUH9	UniProtKB/Swiss-Prot
	Q9BUY6	UniProtKB/Swiss-Prot
	Q9H3M4	UniProtKB/Swiss-Prot
	Q9NPN2	UniProtKB/Swiss-Prot
	Q9P1Z6	UniProtKB/Swiss-Prot

Nomenclature History

Date	Current Symbol	Current Name	Previous Symbol	Previous Name	Description	Reference	Status
2012-03-01	SPPL2B	signal peptide peptidase like 2B	SPPL2B	signal peptide peptidase-like 2B	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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