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Gene: LMAN2 (lectin, mannose binding 2) Homo sapiens

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Symbol:

LMAN2

Name:

lectin, mannose binding 2

RGD ID:

1319046

HGNC Page

HGNC:16986

Description:

Enables D-mannose binding activity and heat shock protein binding activity. Involved in positive regulation of phagocytosis and retrograde vesicle-mediated transport, Golgi to endoplasmic reticulum. Located in several cellular components, including Golgi apparatus; cell surface; and endoplasmic reticulum-Golgi intermediate compartment.

Type:

protein-coding

RefSeq Status:

REVIEWED

Previously known as:

C5orf8; glycoprotein GP36b; GP36B; lectin mannose-binding 2; lectin, mannose-binding 2; vesicular integral protein of 36 kDa; vesicular integral-membrane protein 36; vesicular integral-membrane protein VIP36; VIP36

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):	Lman2 (lectin, mannose-binding 2)	HGNC	EggNOG, Ensembl, HGNC, HomoloGene, Inparanoid, NCBI, OMA, OrthoDB, OrthoMCL, Panther, Treefam
Rattus norvegicus (Norway rat):	Lman2 (lectin, mannose-binding 2)	HGNC	EggNOG, Ensembl, HomoloGene, Inparanoid, NCBI, OMA, OrthoDB, OrthoMCL, Panther, PhylomeDB, Treefam
Chinchilla lanigera (long-tailed chinchilla):	Lman2 (lectin, mannose binding 2)	NCBI	Ortholog
Pan paniscus (bonobo/pygmy chimpanzee):	LMAN2 (lectin, mannose binding 2)	NCBI	Ortholog
Canis lupus familiaris (dog):	LMAN2 (lectin, mannose binding 2)	HGNC	EggNOG, Ensembl, HomoloGene, Inparanoid, NCBI, OMA, OrthoDB, OrthoMCL, Panther, Treefam
Ictidomys tridecemlineatus (thirteen-lined ground squirrel):	Lman2 (lectin, mannose binding 2)	NCBI	Ortholog
Sus scrofa (pig):	LMAN2 (lectin, mannose binding 2)	HGNC	EggNOG, Ensembl, NCBI, OMA, OrthoDB, Panther, Treefam
Chlorocebus sabaeus (green monkey):	LMAN2 (lectin, mannose binding 2)	NCBI	Ortholog
Heterocephalus glaber (naked mole-rat):	Lman2 (lectin, mannose binding 2)	NCBI	Ortholog
Alliance orthologs ³
Rattus norvegicus (Norway rat):	Lman2 (lectin, mannose-binding 2)	Alliance	DIOPT (Ensembl Compara\|HGNC\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Mus musculus (house mouse):	Lman2 (lectin, mannose-binding 2)	Alliance	DIOPT (Ensembl Compara\|HGNC\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Danio rerio (zebrafish):	lman2 (lectin, mannose-binding 2)	Alliance	DIOPT (Ensembl Compara\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid\|ZFIN)
Caenorhabditis elegans (roundworm):	ile-2	Alliance	DIOPT (Ensembl Compara\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Drosophila melanogaster (fruit fly):	CG5510	Alliance	DIOPT (Ensembl Compara\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Saccharomyces cerevisiae (baker's yeast):	UIP5	Alliance	DIOPT (Ensembl Compara\|Hieranoid\|OrthoFinder\|PANTHER)
Xenopus tropicalis (tropical clawed frog):	lman2	Alliance	DIOPT (Ensembl Compara\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Xenopus laevis (African clawed frog):	lman2.S	Alliance	DIOPT (Xenbase)
Xenopus laevis (African clawed frog):	lman2.L	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	5	177,331,567 - 177,351,668 (-)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	5	177,315,805 - 177,351,840 (-)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	5	176,758,568 - 176,778,669 (-)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	5	176,691,357 - 176,711,254 (-)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	5	176,691,356 - 176,711,254	NCBI
Celera	5	171,722,374 - 171,742,745 (+)	NCBI		Celera
Cytogenetic Map	5	q35.3	NCBI
HuRef	5	171,679,241 - 171,699,552 (-)	NCBI		HuRef
CHM1_1	5	176,191,595 - 176,211,934 (-)	NCBI		CHM1_1
T2T-CHM13v2.0	5	177,874,790 - 177,894,892 (-)	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)

Ehlers-Danlos syndrome spondylodysplastic type 2 (IAGP)

Marfanoid Mental Retardation Syndrome, Autosomal (IAGP)

Silver-Russell syndrome (IAGP)

Sotos syndrome (IAGP)

Gene-Chemical Interaction Annotations Click to see Annotation Detail View

1,2-dimethylhydrazine (ISO)

17alpha-ethynylestradiol (ISO)

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

2-hydroxypropanoic acid (EXP)

3-isobutyl-1-methyl-7H-xanthine (EXP)

4,4'-sulfonyldiphenol (EXP)

aflatoxin B1 (ISO)

benzo[a]pyrene (EXP,ISO)

bisphenol A (EXP,ISO)

Bisphenol B (EXP)

bisphenol F (EXP)

cadmium dichloride (EXP)

carbon nanotube (ISO)

clobetasol (ISO)

clofibrate (ISO)

copper(II) sulfate (EXP)

dexamethasone (EXP)

Dibutyl phosphate (EXP)

elemental selenium (EXP)

endosulfan (ISO)

epoxiconazole (ISO)

fipronil (ISO)

folic acid (ISO)

gentamycin (ISO)

indometacin (EXP)

ivermectin (EXP)

manganese atom (EXP)

manganese(0) (EXP)

manganese(II) chloride (EXP)

N-methyl-4-phenylpyridinium (ISO)

paracetamol (ISO)

rac-lactic acid (EXP)

resveratrol (EXP,ISO)

selenium atom (EXP)

sodium arsenite (EXP)

sodium fluoride (ISO)

Soman (ISO)

thioacetamide (ISO)

titanium dioxide (ISO)

triphenyl phosphate (EXP)

tunicamycin (EXP)

valproic acid (EXP)

vitamin E (EXP)

Gene Ontology Annotations Click to see Annotation Detail View

Biological Process

endoplasmic reticulum to Golgi vesicle-mediated transport (IBA)

positive regulation of phagocytosis (IEA,IMP)

protein transport (IEA)

retrograde vesicle-mediated transport, Golgi to endoplasmic reticulum (IMP)

Cellular Component

cell surface (IDA)

COPI-coated vesicle (ISO)

COPII-coated ER to Golgi transport vesicle (IBA)

cytoplasmic vesicle (ISO)

endoplasmic reticulum (IEA)

endoplasmic reticulum membrane (IBA,IEA)

endoplasmic reticulum-Golgi intermediate compartment (IBA,IDA)

endoplasmic reticulum-Golgi intermediate compartment membrane (IEA)

exocytic vesicle (ISO)

extracellular exosome (HDA)

extracellular space (IDA)

Golgi apparatus (IDA,IEA)

Golgi membrane (IBA,IEA)

membrane (IEA)

perinuclear region of cytoplasm (ISO)

plasma membrane (IDA)

Molecular Function

carbohydrate binding (IDA,IEA)

D-mannose binding (IBA,IMP)

heat shock protein binding (IPI)

metal ion binding (IEA)

protein binding (IPI)

Molecular Pathway Annotations Click to see Annotation Detail View

Endoplasmic Reticulum-associated degradation pathway (IEA)

References

References - curated

#	Reference Title	Reference Citation
1.	GOAs Human GO annotations	GOA_HUMAN data from the GO Consortium
2.	KEGG Annotation Import Pipeline	Pipeline to import KEGG annotations from KEGG into RGD
3.	Data Import for Chemical-Gene Interactions	RGD automated import pipeline for gene-chemical interactions

Additional References at PubMed

PMID:8125298	PMID:10444376	PMID:11359937	PMID:12477932	PMID:12517452	PMID:12609988	PMID:12754519	PMID:12878160	PMID:15308636	PMID:15489334	PMID:16009940	PMID:16129679
PMID:17169971	PMID:17255364	PMID:17586539	PMID:18022941	PMID:18025080	PMID:18854154	PMID:19056867	PMID:20383146	PMID:20477988	PMID:21873635	PMID:21988832	PMID:22016386
PMID:22190034	PMID:22645275	PMID:22658674	PMID:22703881	PMID:22939629	PMID:23246001	PMID:23269669	PMID:23376485	PMID:23533145	PMID:23701871	PMID:24332808	PMID:24711643
PMID:25437307	PMID:25921289	PMID:26186194	PMID:26344197	PMID:26618866	PMID:26760575	PMID:27342126	PMID:27375898	PMID:27609421	PMID:27765817	PMID:28380382	PMID:28514442
PMID:28685749	PMID:29121065	PMID:29180619	PMID:29507755	PMID:29509190	PMID:29686263	PMID:30097533	PMID:30711629	PMID:30833792	PMID:30948266	PMID:31073040	PMID:31298480
PMID:31535203	PMID:31950832	PMID:31980649	PMID:31995728	PMID:32353859	PMID:32614325	PMID:32707033	PMID:33060197	PMID:33144569	PMID:33306668	PMID:33545068	PMID:33766124
PMID:33845483	PMID:33961781	PMID:34079125	PMID:34226595	PMID:34591612	PMID:34709727	PMID:34837059	PMID:35271311	PMID:35696571	PMID:35707004	PMID:35944360	PMID:36114006
PMID:36180527	PMID:36215168	PMID:36217030	PMID:36538041	PMID:36572190	PMID:36590901	PMID:36610398	PMID:37167062	PMID:37223481	PMID:37827155	PMID:38496616	PMID:38569033
PMID:39231216

Genomics

Comparative Map Data

LMAN2
(Homo sapiens - human)

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	5	177,331,567 - 177,351,668 (-)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	5	177,315,805 - 177,351,840 (-)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	5	176,758,568 - 176,778,669 (-)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	5	176,691,357 - 176,711,254 (-)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	5	176,691,356 - 176,711,254	NCBI
Celera	5	171,722,374 - 171,742,745 (+)	NCBI		Celera
Cytogenetic Map	5	q35.3	NCBI
HuRef	5	171,679,241 - 171,699,552 (-)	NCBI		HuRef
CHM1_1	5	176,191,595 - 176,211,934 (-)	NCBI		CHM1_1
T2T-CHM13v2.0	5	177,874,790 - 177,894,892 (-)	NCBI		T2T-CHM13v2.0

Lman2
(Mus musculus - house mouse)

Mouse Assembly	Chr	Position (strand)	Source	Genome Browsers
Mouse Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCm39	13	55,491,646 - 55,510,596 (-)	NCBI	GRCm39	GRCm39	mm39
GRCm39 Ensembl	13	55,491,646 - 55,510,596 (-)	Ensembl		GRCm39 Ensembl
GRCm38	13	55,343,833 - 55,362,783 (-)	NCBI	GRCm38	GRCm38	mm10	GRCm38
GRCm38.p6 Ensembl	13	55,343,833 - 55,362,783 (-)	Ensembl	GRCm38		mm10	GRCm38
MGSCv37	13	55,445,194 - 55,464,144 (-)	NCBI	GRCm37	MGSCv37	mm9	NCBIm37
MGSCv36	13	55,353,455 - 55,372,405 (-)	NCBI		MGSCv36	mm8
Celera	13	56,399,474 - 56,418,646 (-)	NCBI		Celera
Cytogenetic Map	13	B1	NCBI
cM Map	13	29.8	NCBI

Lman2
(Rattus norvegicus - Norway rat)

Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCr8	17	9,274,362 - 9,294,950 (+)	NCBI		GRCr8
mRatBN7.2	17	9,269,236 - 9,286,923 (+)	NCBI	mRatBN7.2	mRatBN7.2
mRatBN7.2 Ensembl	17	9,269,022 - 9,287,265 (+)	Ensembl		mRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx	17	9,285,747 - 9,303,376 (+)	NCBI	Rnor_SHR	UTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0	17	10,815,450 - 10,833,082 (+)	NCBI	Rnor_SHRSP	UTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0	17	9,282,139 - 9,299,768 (+)	NCBI	Rnor_WKY	UTH_Rnor_WKY_Bbb_1.0
Rnor_6.0	17	9,798,136 - 9,815,820 (+)	NCBI	Rnor6.0	Rnor_6.0	rn6	Rnor6.0
Rnor_6.0 Ensembl	17	9,797,907 - 9,816,139 (+)	Ensembl	Rnor6.0		rn6	Rnor6.0
Rnor_5.0	17	11,907,481 - 11,925,373 (+)	NCBI	Rnor5.0	Rnor_5.0	rn5	Rnor5.0
RGSC_v3.4	17	15,313,291 - 15,331,470 (+)	NCBI	RGSC3.4	RGSC_v3.4	rn4	RGSC3.4
RGSC_v3.1	17	15,313,257 - 15,331,470 (+)	NCBI
Celera	17	9,347,770 - 9,365,303 (+)	NCBI		Celera
Cytogenetic Map	17	p14	NCBI

Lman2
(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	29,581,737 - 29,597,240 (-)	Ensembl	ChiLan1.0
ChiLan1.0	NW_004955408	29,581,737 - 29,597,240 (-)	NCBI	ChiLan1.0	ChiLan1.0

LMAN2
(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	172,400,702 - 172,451,594 (-)	NCBI		NHGRI_mPanPan1-v2
NHGRI_mPanPan1	5	170,541,726 - 170,576,980 (-)	NCBI		NHGRI_mPanPan1
Mhudiblu_PPA_v0	5	172,619,011 - 172,653,303 (-)	NCBI	Mhudiblu_PPA_v0	Mhudiblu_PPA_v0	panPan3
PanPan1.1	5	179,696,018 - 179,716,076 (-)	NCBI	panpan1.1	PanPan1.1	panPan2
PanPan1.1 Ensembl	5	179,696,018 - 179,716,076 (-)	Ensembl	panpan1.1		panPan2

LMAN2
(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	36,002,963 - 36,023,788 (+)	NCBI	CanFam3.1	CanFam3.1	canFam3	CanFam3.1
CanFam3.1 Ensembl	4	36,002,341 - 36,023,787 (+)	Ensembl	CanFam3.1		canFam3	CanFam3.1
Dog10K_Boxer_Tasha	4	35,970,558 - 35,991,241 (+)	NCBI		Dog10K_Boxer_Tasha
ROS_Cfam_1.0	4	36,369,371 - 36,390,131 (+)	NCBI		ROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl	4	36,369,392 - 36,393,670 (+)	Ensembl		ROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1	4	36,194,590 - 36,215,063 (+)	NCBI		UMICH_Zoey_3.1
UNSW_CanFamBas_1.0	4	36,380,795 - 36,401,235 (+)	NCBI		UNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0	4	36,890,050 - 36,910,748 (+)	NCBI		UU_Cfam_GSD_1.0

Lman2
(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	122,594,473 - 122,613,534 (-)	NCBI		HiC_Itri_2
SpeTri2.0 Ensembl	NW_004936597	1,616,297 - 1,638,569 (-)	Ensembl	SpeTri2.0	SpeTri2.0 Ensembl
SpeTri2.0	NW_004936597	1,619,380 - 1,638,469 (-)	NCBI	SpeTri2.0	SpeTri2.0		SpeTri2.0

LMAN2
(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	80,595,334 - 80,609,594 (+)	Ensembl	Sscrofa11.1		susScr11	Sscrofa11.1
Sscrofa11.1	2	80,595,064 - 80,636,168 (+)	NCBI	Sscrofa11.1	Sscrofa11.1	susScr11	Sscrofa11.1
Sscrofa10.2	2	82,232,345 - 82,273,555 (-)	NCBI	Sscrofa10.2	Sscrofa10.2	susScr3

LMAN2
(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	79,337,076 - 79,358,653 (-)	NCBI	ChlSab1.1	ChlSab1.1	chlSab2
ChlSab1.1 Ensembl	23	79,336,997 - 79,358,421 (-)	Ensembl	ChlSab1.1	ChlSab1.1 Ensembl	chlSab2
Vero_WHO_p1.0	NW_023666075	10,525,633 - 10,547,226 (-)	NCBI	Vero_WHO_p1.0	Vero_WHO_p1.0

Lman2
(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	12,727,838 - 12,747,441 (+)	Ensembl	HetGla_female_1.0	HetGla_female_1.0 Ensembl	hetGla2
HetGla 1.0	NW_004624733	12,728,061 - 12,747,093 (+)	NCBI	HetGla_female_1.0	HetGla 1.0	hetGla2

Variants

Variants in LMAN2
27 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
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 5q35.3(chr5:177261458-177651722)x3	copy number gain	See cases [RCV000138817]	Chr5:177261458..177651722 [GRCh38] Chr5:176688459..177078723 [GRCh37] Chr5:176621065..177011329 [NCBI36] Chr5:5q35.3	likely benign\|uncertain significance
GRCh38/hg38 5q35.3(chr5:177118445-177374609)x3	copy number gain	See cases [RCV000141324]	Chr5:177118445..177374609 [GRCh38] Chr5:176545446..176801610 [GRCh37] Chr5:176478052..176734216 [NCBI36] Chr5:5q35.3	likely 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(chr5:176700128-181269805)x1	copy number loss	See cases [RCV000142648]	Chr5:176700128..181269805 [GRCh38] Chr5:176127129..180696806 [GRCh37] Chr5:176059735..180629412 [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 5q35.2-35.3(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
GRCh37/hg19 5q35.2-35.3(chr5:176274007-180719789)x1	copy number loss	See cases [RCV000447018]	Chr5:176274007..180719789 [GRCh37] Chr5:5q35.2-35.3	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 5q35.2-35.3(chr5:176505173-178230923)x1	copy number loss	See cases [RCV000445817]	Chr5:176505173..178230923 [GRCh37] Chr5:5q35.2-35.3	pathogenic
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 5p15.33-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
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 5q35.2-35.3(chr5:175570677-177436413)x1	copy number loss	not provided [RCV000682615]	Chr5:175570677..177436413 [GRCh37] Chr5:5q35.2-35.3	pathogenic
GRCh37/hg19 5q35.2-35.3(chr5:176044976-177023859)x1	copy number loss	not provided [RCV000682618]	Chr5:176044976..177023859 [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
NM_006816.3(LMAN2):c.988G>A (p.Ala330Thr)	single nucleotide variant	not provided [RCV000883149]	Chr5:177332169 [GRCh38] Chr5:176759170 [GRCh37] Chr5:5q35.3	benign
GRCh37/hg19 5q35.2-35.3(chr5:176305543-177422876)	copy number gain	not provided [RCV000767712]	Chr5:176305543..177422876 [GRCh37] Chr5:5q35.2-35.3	pathogenic
GRCh37/hg19 5q35.3(chr5:176732536-177260046)x1	copy number loss	not provided [RCV000845642]	Chr5:176732536..177260046 [GRCh37] Chr5:5q35.3	uncertain significance
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
Single allele	duplication	not provided [RCV000768450]	Chr5:175843728..180703728 [GRCh37] Chr5:5q35.2-35.3	likely pathogenic
GRCh37/hg19 5q35.3(chr5:176774402-177064884)x4	copy number gain	not provided [RCV000848335]	Chr5:176774402..177064884 [GRCh37] Chr5:5q35.3	uncertain significance
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
GRCh37/hg19 5q35.3(chr5:176643613-179085551)x3	copy number gain	not provided [RCV000846590]	Chr5:176643613..179085551 [GRCh37] Chr5:5q35.3	uncertain significance
Single allele	deletion	Marfanoid habitus and intellectual disability [RCV000851176]	Chr5:175875407..177036017 [GRCh37] Chr5:5q35.2-35.3	likely pathogenic
NC_000005.9:g.(?_176289625)_(177151363_?)del	deletion	Sotos syndrome [RCV003232856]\|not provided [RCV003113198]	Chr5:176289625..177151363 [GRCh37] Chr5:5q35.2-35.3	pathogenic\|no classifications from unflagged records
NM_006816.3(LMAN2):c.116T>C (p.Leu39Ser)	single nucleotide variant	not provided [RCV000975092]	Chr5:177351532 [GRCh38] Chr5:176778533 [GRCh37] Chr5:5q35.3	benign
GRCh37/hg19 5q35.3(chr5:176718361-176957659)x3	copy number gain	not provided [RCV002472682]	Chr5:176718361..176957659 [GRCh37] Chr5:5q35.3	uncertain significance
NC_000005.10:g.(177090796_177094455)_(177346090_177352856)dup	duplication	5q35 microduplication syndrome [RCV001199823]	Chr5:176521456..176773091 [GRCh37] Chr5:5q35.2-35.3	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 5q35.1-35.3(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(chr5:175394616-177436413)x3	copy number gain	not provided [RCV001258713]	Chr5:175394616..177436413 [GRCh37] Chr5:5q35.2-35.3	pathogenic
GRCh37/hg19 5q35.2-35.3(chr5:176497464-177776599)x3	copy number gain	not provided [RCV001832980]	Chr5:176497464..177776599 [GRCh37] Chr5:5q35.2-35.3	pathogenic\|likely 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
NC_000005.9:g.(?_176047812)_(177422934_?)del	deletion	Ehlers-Danlos syndrome progeroid type [RCV001931790]	Chr5:176047812..177422934 [GRCh37] Chr5:5q35.2-35.3	uncertain significance
NC_000005.9:g.(?_176047812)_(177422934_?)dup	duplication	Ehlers-Danlos syndrome progeroid type [RCV001883344]\|not provided [RCV001879660]	Chr5:176047812..177422934 [GRCh37] Chr5:5q35.2-35.3	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
NC_000005.9:g.(?_176618865)_(177036696_?)dup	duplication	Sotos syndrome [RCV003232859]	Chr5:176618865..177036696 [GRCh37] Chr5:5q35.3	uncertain significance
Single allele	duplication	5q35 microduplication syndrome [RCV002286375]	Chr5:176449583..177376826 [GRCh38] Chr5:5q35.2-35.3	pathogenic
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
GRCh37/hg19 5q35.2-35.3(chr5:176516440-177773252)x3	copy number gain	not provided [RCV002474595]	Chr5:176516440..177773252 [GRCh37] Chr5:5q35.2-35.3	likely pathogenic
GRCh37/hg19 5q35.3(chr5:176616151-177107778)x3	copy number gain	not provided [RCV002472763]	Chr5:176616151..177107778 [GRCh37] Chr5:5q35.3	uncertain significance
GRCh37/hg19 5q35.2-35.3(chr5:176547912-177126647)x3	copy number gain	not provided [RCV002472528]	Chr5:176547912..177126647 [GRCh37] Chr5:5q35.2-35.3	likely pathogenic
NM_006816.3(LMAN2):c.227A>C (p.Asp76Ala)	single nucleotide variant	not specified [RCV004169425]	Chr5:177351261 [GRCh38] Chr5:176778262 [GRCh37] Chr5:5q35.3	uncertain significance
NM_006816.3(LMAN2):c.400G>A (p.Ala134Thr)	single nucleotide variant	not specified [RCV004095171]	Chr5:177338521 [GRCh38] Chr5:176765522 [GRCh37] Chr5:5q35.3	uncertain significance
NM_006816.3(LMAN2):c.813G>T (p.Met271Ile)	single nucleotide variant	not specified [RCV004158017]	Chr5:177334381 [GRCh38] Chr5:176761382 [GRCh37] Chr5:5q35.3	uncertain significance
NM_006816.3(LMAN2):c.482T>C (p.Leu161Pro)	single nucleotide variant	not specified [RCV004157839]	Chr5:177337737 [GRCh38] Chr5:176764738 [GRCh37] Chr5:5q35.3	uncertain significance
NM_006816.3(LMAN2):c.625C>T (p.Arg209Cys)	single nucleotide variant	not specified [RCV004164110]	Chr5:177337413 [GRCh38] Chr5:176764414 [GRCh37] Chr5:5q35.3	uncertain significance
NM_006816.3(LMAN2):c.97C>T (p.Leu33Phe)	single nucleotide variant	not specified [RCV004264439]	Chr5:177351551 [GRCh38] Chr5:176778552 [GRCh37] Chr5:5q35.3	uncertain significance
NM_006816.3(LMAN2):c.833T>C (p.Val278Ala)	single nucleotide variant	not specified [RCV004263775]	Chr5:177334361 [GRCh38] Chr5:176761362 [GRCh37] Chr5:5q35.3	uncertain significance
NM_006816.3(LMAN2):c.364G>A (p.Gly122Ser)	single nucleotide variant	not specified [RCV004256557]	Chr5:177338557 [GRCh38] Chr5:176765558 [GRCh37] Chr5:5q35.3	uncertain significance
NM_006816.3(LMAN2):c.515G>A (p.Arg172His)	single nucleotide variant	not specified [RCV004260222]	Chr5:177337523 [GRCh38] Chr5:176764524 [GRCh37] Chr5:5q35.3	uncertain significance
NM_006816.3(LMAN2):c.36G>C (p.Trp12Cys)	single nucleotide variant	not specified [RCV004262244]	Chr5:177351612 [GRCh38] Chr5:176778613 [GRCh37] Chr5:5q35.3	uncertain significance
NM_006816.3(LMAN2):c.436C>A (p.Pro146Thr)	single nucleotide variant	not specified [RCV004277090]	Chr5:177337783 [GRCh38] Chr5:176764784 [GRCh37] Chr5:5q35.3	uncertain significance
NM_006816.3(LMAN2):c.34T>A (p.Trp12Arg)	single nucleotide variant	not specified [RCV004360228]	Chr5:177351614 [GRCh38] Chr5:176778615 [GRCh37] Chr5:5q35.3	uncertain significance
Single allele	deletion	not provided [RCV003448669]	Chr5:175559209..177430432 [GRCh37] Chr5:5q35.2-35.3	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
GRCh37/hg19 5q35.2-35.3(chr5:176385815-178410738)x1	copy number loss	not specified [RCV003986570]	Chr5:176385815..178410738 [GRCh37] Chr5:5q35.2-35.3	pathogenic
GRCh37/hg19 5q35.3(chr5:176744569-177107777)x3	copy number gain	not specified [RCV003986576]	Chr5:176744569..177107777 [GRCh37] Chr5:5q35.3	uncertain significance
NM_006816.3(LMAN2):c.233A>G (p.Gln78Arg)	single nucleotide variant	not specified [RCV004407561]	Chr5:177351255 [GRCh38] Chr5:176778256 [GRCh37] Chr5:5q35.3	uncertain significance
NM_006816.3(LMAN2):c.26G>T (p.Arg9Leu)	single nucleotide variant	not specified [RCV004407562]	Chr5:177351622 [GRCh38] Chr5:176778623 [GRCh37] Chr5:5q35.3	likely benign
NM_006816.3(LMAN2):c.620G>A (p.Arg207His)	single nucleotide variant	not specified [RCV004407563]	Chr5:177337418 [GRCh38] Chr5:176764419 [GRCh37] Chr5:5q35.3	uncertain significance
NM_006816.3(LMAN2):c.643C>G (p.Leu215Val)	single nucleotide variant	not specified [RCV004407564]	Chr5:177337395 [GRCh38] Chr5:176764396 [GRCh37] Chr5:5q35.3	uncertain significance
NM_006816.3(LMAN2):c.652C>T (p.Arg218Cys)	single nucleotide variant	not specified [RCV004407565]	Chr5:177337386 [GRCh38] Chr5:176764387 [GRCh37] Chr5:5q35.3	uncertain significance
NM_006816.3(LMAN2):c.67C>G (p.Leu23Val)	single nucleotide variant	not specified [RCV004407566]	Chr5:177351581 [GRCh38] Chr5:176778582 [GRCh37] Chr5:5q35.3	uncertain significance
NM_006816.3(LMAN2):c.905C>G (p.Pro302Arg)	single nucleotide variant	not specified [RCV004407567]	Chr5:177334289 [GRCh38] Chr5:176761290 [GRCh37] Chr5:5q35.3	uncertain significance
NM_006816.3(LMAN2):c.956C>T (p.Thr319Met)	single nucleotide variant	not specified [RCV004407568]	Chr5:177332201 [GRCh38] Chr5:176759202 [GRCh37] Chr5:5q35.3	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_006816.3(LMAN2):c.1015G>C (p.Val339Leu)	single nucleotide variant	not specified [RCV004407560]	Chr5:177332142 [GRCh38] Chr5:176759143 [GRCh37] Chr5:5q35.3	uncertain significance
NM_006816.3(LMAN2):c.752A>G (p.Tyr251Cys)	single nucleotide variant	not specified [RCV004637185]	Chr5:177337174 [GRCh38] Chr5:176764175 [GRCh37] Chr5:5q35.3	uncertain significance
NM_006816.3(LMAN2):c.665G>A (p.Gly222Asp)	single nucleotide variant	not specified [RCV004637186]	Chr5:177337373 [GRCh38] Chr5:176764374 [GRCh37] Chr5:5q35.3	uncertain significance
Single allele	duplication	Russell-Silver syndrome [RCV004698950]	Chr5:177041167..177411815 [GRCh38] Chr5:5q35.2-35.3	pathogenic

miRNA Target Status

Predicted Target Of

	Summary Value
Count of predictions:	2623
Count of miRNA genes:	880
Interacting mature miRNAs:	1068
Transcripts:	ENST00000303127, ENST00000502560, ENST00000502721, ENST00000504071, ENST00000506310, ENST00000513877, ENST00000514458, ENST00000515209
Prediction methods:	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
406998262	GWAS647238_H	BMI-adjusted waist circumference QTL GWAS647238 (human)		7e-18	BMI-adjusted waist circumference		5	177340672	177340673	Human

Markers in Region

D5S469

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	5	176,770,546 - 176,770,669	UniSTS	GRCh37
GRCh37	5	176,770,545 - 176,770,687	UniSTS	GRCh37
Build 36	5	176,703,151 - 176,703,293	RGD	NCBI36
Celera	5	171,730,589 - 171,730,712	UniSTS
Celera	5	171,730,571 - 171,730,713	RGD
Cytogenetic Map	5	q35.3	UniSTS
HuRef	5	171,691,221 - 171,691,342	UniSTS
HuRef	5	171,691,175 - 171,691,342	UniSTS
HuRef	5	171,691,174 - 171,691,360	UniSTS
HuRef	5	171,691,220 - 171,691,360	UniSTS
Marshfield Genetic Map	5	189.23	RGD
TNG Radiation Hybrid Map	5	64837.0	UniSTS
Stanford-G3 RH Map	5	6265.0	UniSTS
GeneMap99-G3 RH Map	5	6353.0	UniSTS

STS-U10362

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	5	176,758,895 - 176,759,130	UniSTS	GRCh37
Build 36	5	176,691,501 - 176,691,736	RGD	NCBI36
Celera	5	171,742,178 - 171,742,413	RGD
Cytogenetic Map	5	q35.3	UniSTS
HuRef	5	171,679,573 - 171,679,808	UniSTS
GeneMap99-GB4 RH Map	5	636.91	UniSTS
NCBI RH Map	5	973.0	UniSTS

D5S2435

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	5	176,758,586 - 176,758,862	UniSTS	GRCh37
Build 36	5	176,691,192 - 176,691,468	RGD	NCBI36
Celera	5	171,742,446 - 171,742,722	RGD
Cytogenetic Map	5	q35.3	UniSTS
HuRef	5	171,679,264 - 171,679,540	UniSTS
GeneMap99-GB4 RH Map	5	657.65	UniSTS
Whitehead-RH Map	5	546.5	UniSTS

GDB:625967

Human Assembly	Chr	Position (strand)	Source	JBrowse
Cytogenetic Map	5	q35.3	UniSTS

D5S469

Human Assembly	Chr	Position (strand)	Source
Cytogenetic Map	5	q35.3	UniSTS
TNG Radiation Hybrid Map	5	64837.0	UniSTS
Stanford-G3 RH Map	5	6265.0	UniSTS
GeneMap99-G3 RH Map	5	6353.0	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	pharyngeal arch	renal system	reproductive system	respiratory system	sensory system	visual system
1204	2439	2788	2253	4974	1726	2351	6	624	1951	465	2270	7306	6472	53	3734	1	852	1744	1617	175	1

Sequence

Nucleotide Sequences


RefSeq Transcripts	NM_006816	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
GenBank Nucleotide	AC146507	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK222609	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK292099	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK301607	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK308027	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC017263	(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
	DC404202	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	GQ900921	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	U10362	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles

Ensembl Acc Id:

ENST00000303127 ⟹ ENSP00000303366

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	5	177,331,567 - 177,351,668 (-)	Ensembl

Ensembl Acc Id:

ENST00000502560 ⟹ ENSP00000425229

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	5	177,334,309 - 177,351,659 (-)	Ensembl

Ensembl Acc Id:

ENST00000502721

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	5	177,331,579 - 177,351,676 (-)	Ensembl

Ensembl Acc Id:

ENST00000504071

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	5	177,331,954 - 177,334,552 (-)	Ensembl

Ensembl Acc Id:

ENST00000506310

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	5	177,337,435 - 177,351,667 (-)	Ensembl

Ensembl Acc Id:

ENST00000513877 ⟹ ENSP00000427377

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	5	177,337,138 - 177,351,522 (-)	Ensembl

Ensembl Acc Id:

ENST00000514458 ⟹ ENSP00000424132

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	5	177,332,202 - 177,351,652 (-)	Ensembl

Ensembl Acc Id:

ENST00000515209 ⟹ ENSP00000423998

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	5	177,332,031 - 177,351,647 (-)	Ensembl

Ensembl Acc Id:

ENST00000694903

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	5	177,315,805 - 177,351,840 (-)	Ensembl

Ensembl Acc Id:

ENST00000694904

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	5	177,331,575 - 177,340,522 (-)	Ensembl

Ensembl Acc Id:

ENST00000694905 ⟹ ENSP00000511580

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	5	177,331,605 - 177,351,676 (-)	Ensembl

RefSeq Acc Id:

NM_006816 ⟹ NP_006807

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	5	177,331,567 - 177,351,668 (-)	NCBI
GRCh37	5	176,758,563 - 176,778,885 (-)	ENTREZGENE
Build 36	5	176,691,357 - 176,711,254 (-)	NCBI Archive
HuRef	5	171,679,241 - 171,699,552 (-)	ENTREZGENE
CHM1_1	5	176,191,595 - 176,211,934 (-)	NCBI
T2T-CHM13v2.0	5	177,874,790 - 177,894,892 (-)	NCBI

Sequence:

show sequence

AGTGGCCGAGAGGAGAGGAGAATGGCGGCGGAAGGCTGGATTTGGCGTTGGGGCTGGGGCCGGC
GGTGCCTGGGAAGGCCTGGGCTTCTCGGCCCCGGCCCTGGCCCCACTACACCTCTCTTTCTTCT
TTTGTTGTTGGGGTCTGTGACTGCGGATATAACTGACGGCAACAGTGAACATCTCAAGCGGGAG
CATTCGCTCATTAAGCCCTACCAAGGGGTCGGTTCCAGCTCTATGCCCCTCTGGGACTTCCAGG
GCAGCACTATGCTCACGAGCCAGTACGTACGTCTGACCCCTGACGAGCGCAGCAAAGAGGGCTC
TATCTGGAACCACCAGCCGTGCTTCCTCAAAGACTGGGAAATGCACGTCCACTTCAAAGTCCAC
GGCACAGGGAAGAAGAACCTCCATGGAGACGGCATCGCCTTGTGGTACACCCGGGACCGCCTCG
TGCCAGGGCCTGTGTTTGGAAGCAAAGATAACTTCCACGGCTTAGCCATCTTCCTGGACACCTA
CCCCAATGATGAGACCACTGAGCGCGTGTTCCCGTACATCTCGGTGATGGTGAACAATGGCTCC
CTGTCCTACGACCACAGCAAGGATGGGCGCTGGACCGAGCTGGCGGGCTGCACGGCTGACTTCC
GCAACCGCGATCACGACACCTTCCTGGCTGTGCGCTACTCCCGGGGCCGTCTGACGGTGATGAC
CGACCTGGAGGACAAGAACGAGTGGAAGAACTGCATTGACATCACGGGAGTGCGCCTGCCCACC
GGCTACTACTTCGGGGCCTCCGCCGGCACCGGCGACCTGTCTGACAATCATGACATCATCTCCA
TGAAGCTGTTCCAGCTGATGGTGGAGCACACGCCCGACGAGGAGAGCATCGACTGGACCAAGAT
CGAGCCCAGCGTCAACTTCCTCAAGTCGCCCAAAGACAACGTGGACGACCCCACGGGGAACTTC
CGCAGCGGGCCCCTGACGGGGTGGCGGGTGTTCCTGCTGCTGCTGTGCGCTCTCCTGGGCATCG
TTGTCTGCGCCGTGGTGGGGGCCGTGGTGTTCCAGAAGCGGCAGGAGCGGAACAAGCGCTTCTA
CTGAGTGGCGCCTCCGGCGGGGCCTGTCCCTGGGCCCAGGAGCCAATGTGAACTTTTTTTTTTA
CCGGGATTATAAAAGAACAACAAGATGACCTTATTTCTTAACTGTTTCAAATAAATGATTAAAG
TATTTTCATACATTTTGCTTCTTGCCCAGCAGGGACAGGTGGCAGAGCCGAGGCTTAGGGTCTG
GCACCCCCCACAGCTGGAGACGGAGGCTCTCCTGGGGCTGGTGTCTCAGGAGCAGGGGTCTGTG
TCTACAGATGGGCTGTGGCCCCTGCAGGCAGCTGTTGAACACTGGAGGGTCCCCCGGACCACAC
TGGGGTGGGCTCCTGAGGACGTGGGGAAGTGATTTTGTTTTGTGGTGTGTGGCACGTGTGGCGA
CGGATAAGGCCTGAACTGGGAAACCCAGGCCTTCCTGTTCACCCTGAGCTGCTTCCTGAGACAG
ATGCTCAAGTGAGGCTGCAGGCGCGGTGTGGTGGGGCCGAGTGTGACCGTTTGCTAAATAAAGT
GAAATACCCAA

hide sequence

Protein Sequences


Protein RefSeqs	NP_006807	(Get FASTA)	NCBI Sequence Viewer
GenBank Protein	AAA19572	(Get FASTA)	NCBI Sequence Viewer
	AAH17263	(Get FASTA)	NCBI Sequence Viewer
	ADO22438	(Get FASTA)	NCBI Sequence Viewer
	BAD96329	(Get FASTA)	NCBI Sequence Viewer
	BAF84788	(Get FASTA)	NCBI Sequence Viewer
	BAG63093	(Get FASTA)	NCBI Sequence Viewer
	EAW85014	(Get FASTA)	NCBI Sequence Viewer
	EAW85015	(Get FASTA)	NCBI Sequence Viewer
Ensembl Protein	ENSP00000303366
	ENSP00000303366.7
	ENSP00000423998.1
	ENSP00000424132.1
	ENSP00000425229.1
	ENSP00000427377.1
	ENSP00000511580.1
GenBank Protein	Q12907	(Get FASTA)	NCBI Sequence Viewer

RefSeq Acc Id:	NP_006807 ⟸ NM_006816
- Peptide Label:	precursor
- UniProtKB:	Q53HH1 (UniProtKB/Swiss-Prot), Q12907 (UniProtKB/Swiss-Prot), A0A384NPY7 (UniProtKB/TrEMBL), A8K7T4 (UniProtKB/TrEMBL)
- Sequence:	show sequence MAAEGWIWRWGWGRRCLGRPGLLGPGPGPTTPLFLLLLLGSVTADITDGNSEHLKREHSLIKPY QGVGSSSMPLWDFQGSTMLTSQYVRLTPDERSKEGSIWNHQPCFLKDWEMHVHFKVHGTGKKNL HGDGIALWYTRDRLVPGPVFGSKDNFHGLAIFLDTYPNDETTERVFPYISVMVNNGSLSYDHSK DGRWTELAGCTADFRNRDHDTFLAVRYSRGRLTVMTDLEDKNEWKNCIDITGVRLPTGYYFGAS AGTGDLSDNHDIISMKLFQLMVEHTPDEESIDWTKIEPSVNFLKSPKDNVDDPTGNFRSGPLTG WRVFLLLLCALLGIVVCAVVGAVVFQKRQERNKRFY hide sequence

Ensembl Acc Id:

ENSP00000425229 ⟸ ENST00000502560

Ensembl Acc Id:

ENSP00000427377 ⟸ ENST00000513877

Ensembl Acc Id:

ENSP00000303366 ⟸ ENST00000303127

Ensembl Acc Id:

ENSP00000424132 ⟸ ENST00000514458

Ensembl Acc Id:

ENSP00000423998 ⟸ ENST00000515209

Ensembl Acc Id:

ENSP00000511580 ⟸ ENST00000694905

Protein Domains

L-type lectin-like

Protein Structures

Name	Modeler	Protein Id	AA Range	Protein Structure
AF-Q12907-F1-model_v2	AlphaFold	Q12907	1-356	view protein structure

Promoters

RGD ID:

6803315

Promoter ID:

HG_KWN:51900

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:

OTTHUMT00000253434, UC003MGD.1

Position:

Human Assembly	Chr	Position (strand)	Source
Build 36	5	176,711,086 - 176,711,586 (-)	MPROMDB

RGD ID:

6871690

Promoter ID:

EPDNEW_H9010

Type:

initiation region

Name:

LMAN2_1

Description:

lectin, mannose binding 2

SO ACC ID:

SO:0000170

Source:

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

Alternative Promoters:

null; see alsoEPDNEW_H9011 EPDNEW_H9012

Experiment Methods:

Single-end sequencing.

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	5	177,351,661 - 177,351,721	EPDNEW

RGD ID:

6871692

Promoter ID:

EPDNEW_H9011

Type:

initiation region

Name:

LMAN2_2

Description:

lectin, mannose binding 2

SO ACC ID:

SO:0000170

Source:

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

Alternative Promoters:

null; see alsoEPDNEW_H9010 EPDNEW_H9012

Experiment Methods:

Single-end sequencing.

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	5	177,351,894 - 177,351,954	EPDNEW

RGD ID:

6871694

Promoter ID:

EPDNEW_H9012

Type:

multiple initiation site

Name:

LMAN2_3

Description:

lectin, mannose binding 2

SO ACC ID:

SO:0000170

Source:

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

Alternative Promoters:

null; see alsoEPDNEW_H9010 EPDNEW_H9011

Experiment Methods:

Single-end sequencing.; Paired-end sequencing.

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	5	177,355,870 - 177,355,930	EPDNEW

Additional Information

External Database Links

Database	Acc Id	Source(s)
AGR Gene	HGNC:16986	AgrOrtholog
COSMIC	LMAN2	COSMIC
Ensembl Genes	ENSG00000169223	Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript	ENST00000303127	ENTREZGENE
	ENST00000303127.12	UniProtKB/Swiss-Prot
	ENST00000502560.5	UniProtKB/TrEMBL
	ENST00000513877.1	UniProtKB/TrEMBL
	ENST00000514458.5	UniProtKB/TrEMBL
	ENST00000515209.5	UniProtKB/TrEMBL
	ENST00000694905.1	UniProtKB/TrEMBL
Gene3D-CATH	2.60.120.200	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx	ENSG00000169223	GTEx
HGNC ID	HGNC:16986	ENTREZGENE
Human Proteome Map	LMAN2	Human Proteome Map
InterPro	ConA-like_dom_sf	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	Intracellular_Lectin-GPT	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	Lectin_leg	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	VIP36_lectin	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report	hsa:10960	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene	10960	ENTREZGENE
OMIM	609551	OMIM
PANTHER	VESICULAR INTEGRAL-MEMBRANE PROTEIN VIP36	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	VESICULAR MANNOSE-BINDING LECTIN	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam	Lectin_leg-like	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB	PA25919	PharmGKB
PROSITE	L_LECTIN_LIKE	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP	SSF49899	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt	A0A384NPY7	ENTREZGENE, UniProtKB/TrEMBL
	A0A8Q3WK65_HUMAN	UniProtKB/TrEMBL
	A8K7T4	ENTREZGENE, UniProtKB/TrEMBL
	D6RBH1_HUMAN	UniProtKB/TrEMBL
	D6RBV2_HUMAN	UniProtKB/TrEMBL
	D6RDX1_HUMAN	UniProtKB/TrEMBL
	D6RIU4_HUMAN	UniProtKB/TrEMBL
	LMAN2_HUMAN	UniProtKB/Swiss-Prot, ENTREZGENE
	Q53HH1	ENTREZGENE
UniProt Secondary	Q53HH1	UniProtKB/Swiss-Prot

Nomenclature History

Date	Current Symbol	Current Name	Previous Symbol	Previous Name	Description	Reference	Status
2016-01-26	LMAN2	lectin, mannose binding 2	LMAN2	lectin, mannose-binding 2	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)

Imported Disease Annotations - ClinVar

Imported Annotations - KEGG (archival)

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Imported Disease Annotations - ClinVar

Imported Annotations - KEGG (archival)