NRG2 (neuregulin 2) - Rat Genome Database

Name: NRG2
Creator: Rat Genome Database
License: Creative Commons CC BY 4.0
Keywords: Rat Gene RGD Genome

Advanced Search (OLGA)

Gene: NRG2 (neuregulin 2) Homo sapiens

Analyze

Symbol:

NRG2

Name:

neuregulin 2

RGD ID:

1606028

HGNC Page

HGNC:7998

Description:

Predicted to enable ErbB-4 class receptor binding activity and receptor ligand activity. Predicted to be involved in several processes, including ERBB signaling pathway; intracellular signal transduction; and regulation of synapse organization. Predicted to be located in extracellular region. Predicted to be active in GABA-ergic synapse; extracellular space; and glutamatergic synapse.

Type:

protein-coding

RefSeq Status:

REVIEWED

Previously known as:

divergent of neuregulin-1; Don-1; DON1; HRG2; neural- and thymus-derived activator for ErbB kinases; NTAK; pro-neuregulin-2, membrane-bound isoform; pro-NRG2

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):	Nrg2 (neuregulin 2)	HGNC	EggNOG, Ensembl, HGNC, HomoloGene, Inparanoid, NCBI, OMA, OrthoDB, OrthoMCL, Panther, Treefam
Rattus norvegicus (Norway rat):	Nrg2 (neuregulin 2)	HGNC	EggNOG, Ensembl, HomoloGene, Inparanoid, NCBI, OMA, OrthoDB, OrthoMCL, Panther, Treefam
Chinchilla lanigera (long-tailed chinchilla):	Nrg2 (neuregulin 2)	NCBI	Ortholog
Pan paniscus (bonobo/pygmy chimpanzee):	NRG2 (neuregulin 2)	NCBI	Ortholog
Canis lupus familiaris (dog):	NRG2 (neuregulin 2)	HGNC	EggNOG, Ensembl, HomoloGene, Inparanoid, NCBI, OMA, OrthoDB, OrthoMCL, Panther, Treefam
Ictidomys tridecemlineatus (thirteen-lined ground squirrel):	Nrg2 (neuregulin 2)	NCBI	Ortholog
Sus scrofa (pig):	NRG2 (neuregulin 2)	HGNC	EggNOG, Ensembl, NCBI, OrthoDB, Panther
Chlorocebus sabaeus (green monkey):	NRG2 (neuregulin 2)	NCBI	Ortholog
Heterocephalus glaber (naked mole-rat):	Nrg2 (neuregulin 2)	NCBI	Ortholog
Other homologs ²
Rattus norvegicus (Norway rat):	Fitm2 (fat storage-inducing transmembrane protein 2)	HGNC	OMA
Alliance orthologs ³
Rattus norvegicus (Norway rat):	Nrg2 (neuregulin 2)	Alliance	DIOPT (Ensembl Compara\|HGNC\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PhylomeDB\|SonicParanoid)
Mus musculus (house mouse):	Nrg2 (neuregulin 2)	Alliance	DIOPT (HGNC\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PhylomeDB\|SonicParanoid)
Danio rerio (zebrafish):	nrg2b (neuregulin 2b)	Alliance	DIOPT (Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PhylomeDB\|SonicParanoid\|ZFIN)
Danio rerio (zebrafish):	nrg2a (neuregulin 2a)	Alliance	DIOPT (Ensembl Compara\|Hieranoid\|InParanoid\|OrthoFinder\|OrthoInspector\|PhylomeDB\|SonicParanoid\|ZFIN)
Drosophila melanogaster (fruit fly):	vn	Alliance	DIOPT (Ensembl Compara\|OrthoFinder\|OrthoInspector)

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	139,846,781 - 140,043,299 (-)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	5	139,846,779 - 140,043,299 (-)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	5	139,226,366 - 139,422,884 (-)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	5	139,207,444 - 139,403,063 (-)	NCBI	NCBI36	Build 36	hg18	NCBI36
Celera	5	135,301,792 - 135,498,704 (-)	NCBI		Celera
Cytogenetic Map	5	q31.2	NCBI
HuRef	5	134,369,651 - 134,566,061 (-)	NCBI		HuRef
CHM1_1	5	138,659,474 - 138,855,994 (-)	NCBI		CHM1_1
T2T-CHM13v2.0	5	140,371,883 - 140,568,402 (-)	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

autism spectrum disorder (IAGP)

autosomal dominant intellectual developmental disorder 31 (IAGP)

familial adenomatous polyposis 1 (IAGP)

Hereditary Neoplastic Syndromes (IAGP)

Neurodevelopmental Disorders (IAGP)

Gene-Chemical Interaction Annotations Click to see Annotation Detail View

1,2-dichloroethane (ISO)

17beta-estradiol (EXP)

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

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

2,4,6-trinitrotoluene (ISO)

4,4'-sulfonyldiphenol (ISO)

6-propyl-2-thiouracil (ISO)

acrylamide (ISO)

aflatoxin B1 (EXP)

alpha-Zearalanol (ISO)

ammonium chloride (ISO)

arsane (EXP)

arsenic atom (EXP)

asbestos (EXP)

benzalkonium chloride (ISO)

benzo[a]pyrene (EXP)

benzo[e]pyrene (EXP)

bis(2-ethylhexyl) phthalate (EXP)

bisphenol A (EXP,ISO)

C60 fullerene (ISO)

calcitriol (EXP)

carbon nanotube (ISO)

copper atom (ISO)

copper(0) (ISO)

cyclosporin A (EXP)

decabromodiphenyl ether (ISO)

dorsomorphin (EXP)

epoxiconazole (ISO)

fenvalerate (ISO)

fipronil (ISO)

fonofos (EXP)

fulvestrant (EXP)

lipopolysaccharide (EXP)

manganese atom (EXP)

manganese(0) (EXP)

manganese(II) chloride (EXP)

melphalan (EXP)

methylmercury chloride (EXP)

N,N-diethyl-m-toluamide (ISO)

nickel atom (EXP)

ozone (ISO)

paracetamol (EXP,ISO)

parathion (EXP)

perfluorooctanoic acid (ISO)

permethrin (ISO)

pirinixic acid (ISO)

potassium dichromate (ISO)

raloxifene (EXP)

resveratrol (EXP)

S-(1,2-dichlorovinyl)-L-cysteine (EXP)

SB 431542 (EXP)

silicon dioxide (EXP)

sodium arsenite (EXP,ISO)

terbufos (EXP)

titanium dioxide (ISO)

trichloroethene (ISO)

triclosan (EXP)

triptonide (ISO)

valproic acid (EXP)

vorinostat (EXP)

Gene Ontology Annotations Click to see Annotation Detail View

Biological Process

animal organ development (IBA)

cell surface receptor signaling pathway (ISO)

epidermal growth factor receptor signaling pathway (ISO)

ERBB2-ERBB3 signaling pathway (ISO)

ERBB4 signaling pathway (IBA)

ERBB4-ERBB4 signaling pathway (ISO)

intracellular signal transduction (IBA)

nervous system development (IEA)

regulation of synapse assembly (ISO)

regulation of synapse maturation (ISO)

signal transduction (IEA,TAS)

Cellular Component

extracellular region (IEA,TAS)

extracellular space (IBA)

GABA-ergic synapse (ISO)

glutamatergic synapse (ISO)

membrane (IEA)

plasma membrane (IEA)

Molecular Function

epidermal growth factor receptor activity (ISO)

epidermal growth factor receptor binding (ISO)

ErbB-3 class receptor binding (ISO)

ErbB-4 class receptor binding (ISO)

growth factor activity (IEA)

receptor ligand activity (ISO)

signaling receptor binding (IBA,IEA,TAS)

Molecular Pathway Annotations Click to see Annotation Detail View

epidermal growth factor/neuregulin signaling pathway (EXP,IEA,ISO,TAS)

Phenotype Annotations Click to see Annotation Detail View

Human Phenotype

Autistic behavior (IAGP)

Hepatocellular carcinoma (IAGP)

References

References - curated

#	Reference Title	Reference Citation
1.	A novel brain-derived member of the epidermal growth factor family that interacts with ErbB3 and ErbB4.	Higashiyama S, etal., J Biochem (Tokyo) 1997 Sep;122(3):675-80.
2.	Neuregulins and cancer.	Montero JC, etal., Clin Cancer Res. 2008 Jun 1;14(11):3237-41. doi: 10.1158/1078-0432.CCR-07-5133.
3.	KEGG Annotation Import Pipeline	Pipeline to import KEGG annotations from KEGG into RGD
4.	PID Annotation Import Pipeline	Pipeline to import Pathway Interaction Database annotations from NCI into RGD
5.	ClinVar Automated Import and Annotation Pipeline	RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
6.	Data Import for Chemical-Gene Interactions	RGD automated import pipeline for gene-chemical interactions

Additional References at PubMed

PMID:9168115	PMID:9199335	PMID:9417904	PMID:10369162	PMID:10974560	PMID:12477932	PMID:14722120	PMID:15358134	PMID:15961242	PMID:16344560	PMID:17563728	PMID:17598910
PMID:17945187	PMID:17962208	PMID:19086053	PMID:21873635	PMID:27345716	PMID:29507755	PMID:32393512	PMID:33378376	PMID:33961781	PMID:34284546	PMID:34549707	PMID:34996744
PMID:36411648	PMID:38791584

Genomics

Comparative Map Data

NRG2
(Homo sapiens - human)

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	5	139,846,781 - 140,043,299 (-)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	5	139,846,779 - 140,043,299 (-)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	5	139,226,366 - 139,422,884 (-)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	5	139,207,444 - 139,403,063 (-)	NCBI	NCBI36	Build 36	hg18	NCBI36
Celera	5	135,301,792 - 135,498,704 (-)	NCBI		Celera
Cytogenetic Map	5	q31.2	NCBI
HuRef	5	134,369,651 - 134,566,061 (-)	NCBI		HuRef
CHM1_1	5	138,659,474 - 138,855,994 (-)	NCBI		CHM1_1
T2T-CHM13v2.0	5	140,371,883 - 140,568,402 (-)	NCBI		T2T-CHM13v2.0

Nrg2
(Mus musculus - house mouse)

Mouse Assembly	Chr	Position (strand)	Source	Genome Browsers
Mouse Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCm39	18	36,147,634 - 36,332,754 (-)	NCBI	GRCm39	GRCm39	mm39
GRCm39 Ensembl	18	36,150,705 - 36,330,433 (-)	Ensembl		GRCm39 Ensembl
GRCm38	18	36,014,581 - 36,197,532 (-)	NCBI	GRCm38	GRCm38	mm10	GRCm38
GRCm38.p6 Ensembl	18	36,017,652 - 36,197,380 (-)	Ensembl	GRCm38		mm10	GRCm38
MGSCv37	18	36,177,303 - 36,356,814 (-)	NCBI	GRCm37	MGSCv37	mm9	NCBIm37
MGSCv36	18	36,177,303 - 36,356,814 (-)	NCBI		MGSCv36	mm8
Celera	18	36,474,450 - 36,653,084 (-)	NCBI		Celera
Cytogenetic Map	18	B2	NCBI
cM Map	18	19.38	NCBI

Nrg2
(Rattus norvegicus - Norway rat)

Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCr8	18	27,890,578 - 28,072,538 (-)	NCBI		GRCr8
mRatBN7.2	18	27,616,542 - 27,798,505 (-)	NCBI	mRatBN7.2	mRatBN7.2
mRatBN7.2 Ensembl	18	27,619,661 - 27,798,505 (-)	Ensembl		mRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx	18	27,743,902 - 27,925,871 (-)	NCBI	Rnor_SHR	UTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0	18	28,505,789 - 28,687,737 (-)	NCBI	Rnor_SHRSP	UTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0	18	27,840,647 - 28,022,647 (-)	NCBI	Rnor_WKY	UTH_Rnor_WKY_Bbb_1.0
Rnor_6.0	18	28,835,391 - 29,015,552 (-)	NCBI	Rnor6.0	Rnor_6.0	rn6	Rnor6.0
Rnor_6.0 Ensembl	18	28,835,417 - 29,015,552 (-)	Ensembl	Rnor6.0		rn6	Rnor6.0
Rnor_5.0	18	28,544,864 - 28,724,922 (-)	NCBI	Rnor5.0	Rnor_5.0	rn5	Rnor5.0
RGSC_v3.4	18	28,650,097 - 28,828,772 (-)	NCBI	RGSC3.4	RGSC_v3.4	rn4	RGSC3.4
RGSC_v3.1	18	28,676,749 - 28,855,418 (-)	NCBI
Celera	18	27,350,962 - 27,529,758 (-)	NCBI		Celera
Cytogenetic Map	18	p11	NCBI

Nrg2
(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	NW_004955418	548,624 - 793,861 (+)	NCBI	ChiLan1.0	ChiLan1.0

NRG2
(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	135,109,036 - 135,304,138 (-)	NCBI		NHGRI_mPanPan1-v2
NHGRI_mPanPan1	5	133,248,589 - 133,444,133 (-)	NCBI		NHGRI_mPanPan1
Mhudiblu_PPA_v0	5	135,212,496 - 135,411,469 (-)	NCBI	Mhudiblu_PPA_v0	Mhudiblu_PPA_v0	panPan3
PanPan1.1	5	141,333,911 - 141,528,420 (-)	NCBI	panpan1.1	PanPan1.1	panPan2

NRG2
(Canis lupus familiaris - dog)

Dog Assembly	Chr	Position (strand)	Source	Genome Browsers
Dog Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
CanFam3.1	2	35,085,192 - 35,264,509 (-)	NCBI	CanFam3.1	CanFam3.1	canFam3	CanFam3.1
CanFam3.1 Ensembl	2	35,085,361 - 35,264,378 (-)	Ensembl	CanFam3.1		canFam3	CanFam3.1
Dog10K_Boxer_Tasha	2	32,188,379 - 32,434,387 (-)	NCBI		Dog10K_Boxer_Tasha
ROS_Cfam_1.0	2	35,540,482 - 35,786,931 (-)	NCBI		ROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl	2	35,540,758 - 35,596,619 (-)	Ensembl		ROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1	2	32,592,831 - 32,839,160 (-)	NCBI		UMICH_Zoey_3.1
UNSW_CanFamBas_1.0	2	33,459,495 - 33,706,597 (-)	NCBI		UNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0	2	34,211,046 - 34,457,510 (-)	NCBI		UU_Cfam_GSD_1.0

Nrg2
(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	152,546,964 - 152,728,032 (+)	NCBI		HiC_Itri_2
SpeTri2.0 Ensembl	NW_004936531	8,884,642 - 9,064,869 (-)	Ensembl	SpeTri2.0	SpeTri2.0 Ensembl
SpeTri2.0	NW_004936531	8,884,565 - 9,064,541 (-)	NCBI	SpeTri2.0	SpeTri2.0		SpeTri2.0

NRG2
(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	141,662,369 - 141,824,727 (-)	Ensembl	Sscrofa11.1		susScr11	Sscrofa11.1
Sscrofa11.1	2	141,660,936 - 141,825,281 (-)	NCBI	Sscrofa11.1	Sscrofa11.1	susScr11	Sscrofa11.1
Sscrofa10.2	2	147,549,110 - 147,575,155 (-)	NCBI	Sscrofa10.2	Sscrofa10.2	susScr3

NRG2
(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	42,498,367 - 42,694,330 (-)	NCBI	ChlSab1.1	ChlSab1.1	chlSab2
ChlSab1.1 Ensembl	23	42,499,503 - 42,692,968 (-)	Ensembl	ChlSab1.1	ChlSab1.1 Ensembl	chlSab2
Vero_WHO_p1.0	NW_023666034	35,126,483 - 35,386,932 (+)	NCBI	Vero_WHO_p1.0	Vero_WHO_p1.0

Nrg2
(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_004624743	32,620,295 - 32,810,391 (-)	Ensembl	HetGla_female_1.0	HetGla_female_1.0 Ensembl	hetGla2
HetGla 1.0	NW_004624743	32,620,025 - 32,810,990 (-)	NCBI	HetGla_female_1.0	HetGla 1.0	hetGla2

Variants

Variants in NRG2
87 total Variants

Clinical Variants

Name	Type	Condition(s)	Position(s)	Clinical significance
GRCh38/hg38 5q23.3-33.2(chr5:130860928-155321811)x3	copy number gain	See cases [RCV000051193]	Chr5:130860928..155321811 [GRCh38] Chr5:130196621..154701371 [GRCh37] Chr5:130224520..154681564 [NCBI36] Chr5:5q23.3-33.2	pathogenic
GRCh38/hg38 5q31.2-32(chr5:138871137-145812309)x1	copy number loss	See cases [RCV000052142]	Chr5:138871137..145812309 [GRCh38] Chr5:138206826..145191872 [GRCh37] Chr5:138234725..145172065 [NCBI36] Chr5:5q31.2-32	pathogenic
GRCh38/hg38 5q21.3-33.2(chr5:106619588-156124387)x1	copy number loss	See cases [RCV000053524]	Chr5:106619588..156124387 [GRCh38] Chr5:105955289..155551397 [GRCh37] Chr5:105983188..155483975 [NCBI36] Chr5:5q21.3-33.2	pathogenic
NM_013981.3(NRG2):c.1169C>T (p.Ser390Phe)	single nucleotide variant	Malignant melanoma [RCV000066654]	Chr5:139865117 [GRCh38] Chr5:139244702 [GRCh37] Chr5:139224886 [NCBI36] Chr5:5q31.2	not provided
NM_004883.2(NRG2):c.1076G>A (p.Cys359Tyr)	single nucleotide variant	Malignant melanoma [RCV000066655]	Chr5:139871757 [GRCh38] Chr5:139251342 [GRCh37] Chr5:139231526 [NCBI36] Chr5:5q31.2	not provided
NM_001184935.1(NRG2):c.995C>T (p.Ala332Val)	single nucleotide variant	Malignant melanoma [RCV000061124]	Chr5:139855775 [GRCh38] Chr5:139235360 [GRCh37] Chr5:139215544 [NCBI36] Chr5:5q31.2	not provided
GRCh38/hg38 5q31.1-31.3(chr5:135297294-140106003)x3	copy number gain	See cases [RCV000133750]	Chr5:135297294..140106003 [GRCh38] Chr5:134632984..139485588 [GRCh37] Chr5:134660883..139465772 [NCBI36] Chr5:5q31.1-31.3	pathogenic
GRCh38/hg38 5q31.2-31.3(chr5:137836682-140696361)x3	copy number gain	See cases [RCV000134725]	Chr5:137836682..140696361 [GRCh38] Chr5:137172371..140075946 [GRCh37] Chr5:137200270..140056130 [NCBI36] Chr5:5q31.2-31.3	pathogenic
GRCh38/hg38 5q23.3-33.2(chr5:129847794-153353546)x3	copy number gain	See cases [RCV000138808]	Chr5:129847794..153353546 [GRCh38] Chr5:129183487..152733106 [GRCh37] Chr5:129211386..152713299 [NCBI36] Chr5:5q23.3-33.2	pathogenic
GRCh38/hg38 5q31.2-31.3(chr5:138942857-144605017)x3	copy number gain	See cases [RCV000142806]	Chr5:138942857..144605017 [GRCh38] Chr5:138278546..143984580 [GRCh37] Chr5:138306445..143964773 [NCBI36] Chr5:5q31.2-31.3	uncertain significance
NM_004883.3(NRG2):c.1990C>T (p.Pro664Ser)	single nucleotide variant	not specified [RCV004288402]	Chr5:139848480 [GRCh38] Chr5:139228065 [GRCh37] Chr5:5q31.2	uncertain significance
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 5q23.3-33.3(chr5:130125085-157574910)x3	copy number gain	See cases [RCV000449349]	Chr5:130125085..157574910 [GRCh37] Chr5:5q23.3-33.3	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 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 5p15.1-q35.2(chr5:17628741-176575720)x1	copy number loss	See cases [RCV000511978]	Chr5:17628741..176575720 [GRCh37] Chr5:5p15.1-q35.2	pathogenic
GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)x3	copy number gain	See cases [RCV000512039]	Chr5:113577..180719789 [GRCh37] Chr5:5p15.33-q35.3	pathogenic
NC_000005.9:g.(?_86400000)_(154000000_?)del	deletion	Familial adenomatous polyposis 1 [RCV004561496]\|Hereditary cancer-predisposing syndrome [RCV000554476]	Chr5:86400000..154000000 [GRCh37] Chr5:5q14.3-33.2	pathogenic
NM_004883.3(NRG2):c.416T>C (p.Val139Ala)	single nucleotide variant	not specified [RCV004310632]	Chr5:140042654 [GRCh38] Chr5:139422239 [GRCh37] Chr5:5q31.2	likely benign
NM_004883.3(NRG2):c.50G>C (p.Gly17Ala)	single nucleotide variant	not specified [RCV004312422]	Chr5:140043020 [GRCh38] Chr5:139422605 [GRCh37] Chr5:5q31.2	likely benign
NM_004883.3(NRG2):c.442A>G (p.Ser148Gly)	single nucleotide variant	not specified [RCV004316265]	Chr5:140042628 [GRCh38] Chr5:139422213 [GRCh37] Chr5:5q31.2	uncertain significance
NM_004883.3(NRG2):c.144G>C (p.Arg48Ser)	single nucleotide variant	not specified [RCV004304720]	Chr5:140042926 [GRCh38] Chr5:139422511 [GRCh37] Chr5:5q31.2	likely benign
NM_004883.3(NRG2):c.785G>A (p.Gly262Asp)	single nucleotide variant	not specified [RCV004302613]	Chr5:139887427 [GRCh38] Chr5:139267012 [GRCh37] Chr5:5q31.2	uncertain significance
NM_004883.3(NRG2):c.141C>G (p.Ser47Arg)	single nucleotide variant	not specified [RCV004310629]	Chr5:140042929 [GRCh38] Chr5:139422514 [GRCh37] Chr5:5q31.2	uncertain significance
GRCh37/hg19 5q31.2-31.3(chr5:139147238-141540491)x1	copy number loss	not provided [RCV000682600]	Chr5:139147238..141540491 [GRCh37] Chr5:5q31.2-31.3	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
Single allele	deletion	Neurodevelopmental disorder [RCV000787436]	Chr5:14685137..149511942 [GRCh37] Chr5:5p15.2-q32	uncertain significance
NM_004883.3(NRG2):c.155A>G (p.Asn52Ser)	single nucleotide variant	not specified [RCV004332998]	Chr5:140042915 [GRCh38] Chr5:139422500 [GRCh37] Chr5:5q31.2	likely benign
NM_004883.3(NRG2):c.2206A>G (p.Thr736Ala)	single nucleotide variant	not specified [RCV004301435]	Chr5:139848264 [GRCh38] Chr5:139227849 [GRCh37] Chr5:5q31.2	uncertain significance
NM_004883.3(NRG2):c.385G>T (p.Val129Leu)	single nucleotide variant	not specified [RCV004289384]	Chr5:140042685 [GRCh38] Chr5:139422270 [GRCh37] Chr5:5q31.2	uncertain significance
NM_004883.3(NRG2):c.53G>A (p.Arg18Gln)	single nucleotide variant	not provided [RCV000885561]\|not specified [RCV004028349]	Chr5:140043017 [GRCh38] Chr5:139422602 [GRCh37] Chr5:5q31.2	likely benign\|uncertain significance
NM_004883.3(NRG2):c.424G>A (p.Gly142Ser)	single nucleotide variant	not provided [RCV000913399]	Chr5:140042646 [GRCh38] Chr5:139422231 [GRCh37] Chr5:5q31.2	likely benign
NM_004883.3(NRG2):c.1971ACCCGG[1] (p.654PG[6])	microsatellite	not provided [RCV001645146]	Chr5:139848488..139848493 [GRCh38] Chr5:139228073..139228078 [GRCh37] Chr5:5q31.2	benign
NC_000005.9:g.(?_136633338)_(140998481_?)dup	duplication	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV001339088]	Chr5:136633338..140998481 [GRCh37] Chr5:5q31.2-31.3	uncertain significance
NM_004883.3(NRG2):c.872+1G>A	single nucleotide variant	Autism spectrum disorder [RCV003127360]	Chr5:139887339 [GRCh38] Chr5:139266924 [GRCh37] Chr5:5q31.2	uncertain significance
NM_004883.3(NRG2):c.2399G>C (p.Gly800Ala)	single nucleotide variant	not specified [RCV004310631]	Chr5:139848071 [GRCh38] Chr5:139227656 [GRCh37] Chr5:5q31.2	likely benign
NM_004883.3(NRG2):c.615A>C (p.Leu205Phe)	single nucleotide variant	not specified [RCV004312423]	Chr5:140042455 [GRCh38] Chr5:139422040 [GRCh37] Chr5:5q31.2	uncertain significance
GRCh37/hg19 5q31.2(chr5:138675227-139314012)x1	copy number loss	not provided [RCV001834327]	Chr5:138675227..139314012 [GRCh37] Chr5:5q31.2	uncertain significance
GRCh37/hg19 5q23.3-33.3(chr5:130125085-157574910)	copy number gain	not specified [RCV002053526]	Chr5:130125085..157574910 [GRCh37] Chr5:5q23.3-33.3	pathogenic
NC_000005.9:g.(?_136957787)_(140078137_?)dup	duplication	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV003116437]	Chr5:136957787..140078137 [GRCh37] Chr5:5q31.2-31.3	uncertain significance
NM_004883.3(NRG2):c.2177G>C (p.Arg726Pro)	single nucleotide variant	not specified [RCV004310630]	Chr5:139848293 [GRCh38] Chr5:139227878 [GRCh37] Chr5:5q31.2	uncertain significance
NM_004883.3(NRG2):c.2224C>G (p.Arg742Gly)	single nucleotide variant	not specified [RCV004323769]	Chr5:139848246 [GRCh38] Chr5:139227831 [GRCh37] Chr5:5q31.2	uncertain significance
NM_004883.3(NRG2):c.130G>A (p.Gly44Ser)	single nucleotide variant	not specified [RCV004332997]	Chr5:140042940 [GRCh38] Chr5:139422525 [GRCh37] Chr5:5q31.2	likely benign
NM_004883.3(NRG2):c.97AGC[8] (p.Ser41del)	microsatellite	Hepatocellular carcinoma [RCV002302748]	Chr5:140042947..140042949 [GRCh38] Chr5:139422532..139422534 [GRCh37] Chr5:5q31.2	pathogenic
NM_004883.3(NRG2):c.247del (p.Ala83fs)	deletion	Hepatocellular carcinoma [RCV002302801]	Chr5:140042823 [GRCh38] Chr5:139422408 [GRCh37] Chr5:5q31.2	pathogenic
NM_004883.3(NRG2):c.1989_1990insT (p.Pro664fs)	insertion	Hepatocellular carcinoma [RCV002302821]	Chr5:139848480..139848481 [GRCh38] Chr5:139228065..139228066 [GRCh37] Chr5:5q31.2	pathogenic
NM_004883.3(NRG2):c.73AGC[5] (p.Ser30del)	microsatellite	Hepatocellular carcinoma [RCV002302761]	Chr5:140042980..140042982 [GRCh38] Chr5:139422565..139422567 [GRCh37] Chr5:5q31.2	pathogenic
NM_004883.3(NRG2):c.1957C>A (p.Pro653Thr)	single nucleotide variant	not specified [RCV004164635]	Chr5:139848513 [GRCh38] Chr5:139228098 [GRCh37] Chr5:5q31.2	uncertain significance
NM_004883.3(NRG2):c.1598C>T (p.Ser533Phe)	single nucleotide variant	not specified [RCV004125933]	Chr5:139851778 [GRCh38] Chr5:139231363 [GRCh37] Chr5:5q31.2	uncertain significance
NM_004883.3(NRG2):c.2249G>T (p.Gly750Val)	single nucleotide variant	not specified [RCV004136819]	Chr5:139848221 [GRCh38] Chr5:139227806 [GRCh37] Chr5:5q31.2	uncertain significance
NM_004883.3(NRG2):c.1024G>A (p.Ala342Thr)	single nucleotide variant	not specified [RCV004123867]	Chr5:139871809 [GRCh38] Chr5:139251394 [GRCh37] Chr5:5q31.2	uncertain significance
NM_004883.3(NRG2):c.1703G>A (p.Arg568Gln)	single nucleotide variant	not specified [RCV004195165]	Chr5:139851673 [GRCh38] Chr5:139231258 [GRCh37] Chr5:5q31.2	likely benign
NM_004883.3(NRG2):c.2401G>T (p.Ala801Ser)	single nucleotide variant	not specified [RCV004188904]	Chr5:139848069 [GRCh38] Chr5:139227654 [GRCh37] Chr5:5q31.2	uncertain significance
NM_004883.3(NRG2):c.1975G>C (p.Gly659Arg)	single nucleotide variant	not specified [RCV004121399]	Chr5:139848495 [GRCh38] Chr5:139228080 [GRCh37] Chr5:5q31.2	uncertain significance
NM_004883.3(NRG2):c.2209T>C (p.Ser737Pro)	single nucleotide variant	not specified [RCV004230064]	Chr5:139848261 [GRCh38] Chr5:139227846 [GRCh37] Chr5:5q31.2	uncertain significance
NM_004883.3(NRG2):c.850C>T (p.Arg284Cys)	single nucleotide variant	not specified [RCV004238056]	Chr5:139887362 [GRCh38] Chr5:139266947 [GRCh37] Chr5:5q31.2	uncertain significance
NM_004883.3(NRG2):c.2003C>T (p.Ala668Val)	single nucleotide variant	not specified [RCV004114315]	Chr5:139848467 [GRCh38] Chr5:139228052 [GRCh37] Chr5:5q31.2	uncertain significance
NM_004883.3(NRG2):c.1679C>T (p.Ala560Val)	single nucleotide variant	not specified [RCV004237334]	Chr5:139851697 [GRCh38] Chr5:139231282 [GRCh37] Chr5:5q31.2	uncertain significance
NM_004883.3(NRG2):c.1381C>T (p.Pro461Ser)	single nucleotide variant	not specified [RCV004172289]	Chr5:139852939 [GRCh38] Chr5:139232524 [GRCh37] Chr5:5q31.2	uncertain significance
NM_004883.3(NRG2):c.1712C>T (p.Ala571Val)	single nucleotide variant	not specified [RCV004134968]	Chr5:139851664 [GRCh38] Chr5:139231249 [GRCh37] Chr5:5q31.2	uncertain significance
NM_004883.3(NRG2):c.217C>A (p.Pro73Thr)	single nucleotide variant	not specified [RCV004212567]	Chr5:140042853 [GRCh38] Chr5:139422438 [GRCh37] Chr5:5q31.2	uncertain significance
NM_004883.3(NRG2):c.1777G>T (p.Val593Leu)	single nucleotide variant	not specified [RCV004200890]	Chr5:139848693 [GRCh38] Chr5:139228278 [GRCh37] Chr5:5q31.2	uncertain significance
NM_004883.3(NRG2):c.982G>A (p.Val328Ile)	single nucleotide variant	not specified [RCV004074277]	Chr5:139880865 [GRCh38] Chr5:139260450 [GRCh37] Chr5:5q31.2	uncertain significance
NM_004883.3(NRG2):c.2179C>T (p.Pro727Ser)	single nucleotide variant	not specified [RCV004220367]	Chr5:139848291 [GRCh38] Chr5:139227876 [GRCh37] Chr5:5q31.2	uncertain significance
NM_004883.3(NRG2):c.1426A>C (p.Lys476Gln)	single nucleotide variant	not specified [RCV004184550]	Chr5:139852550 [GRCh38] Chr5:139232135 [GRCh37] Chr5:5q31.2	uncertain significance
NM_004883.3(NRG2):c.298G>A (p.Gly100Ser)	single nucleotide variant	not specified [RCV004088141]	Chr5:140042772 [GRCh38] Chr5:139422357 [GRCh37] Chr5:5q31.2	uncertain significance
NM_004883.3(NRG2):c.1750C>T (p.Arg584Cys)	single nucleotide variant	not specified [RCV004208166]	Chr5:139851626 [GRCh38] Chr5:139231211 [GRCh37] Chr5:5q31.2	uncertain significance
NM_004883.3(NRG2):c.1241T>G (p.Val414Gly)	single nucleotide variant	not specified [RCV004109191]	Chr5:139855727 [GRCh38] Chr5:139235312 [GRCh37] Chr5:5q31.2	uncertain significance
NM_004883.3(NRG2):c.2269C>T (p.Arg757Trp)	single nucleotide variant	not specified [RCV004168454]	Chr5:139848201 [GRCh38] Chr5:139227786 [GRCh37] Chr5:5q31.2	uncertain significance
NM_004883.3(NRG2):c.79A>G (p.Ser27Gly)	single nucleotide variant	not specified [RCV004226324]	Chr5:140042991 [GRCh38] Chr5:139422576 [GRCh37] Chr5:5q31.2	uncertain significance
NM_004883.3(NRG2):c.2255C>A (p.Ala752Glu)	single nucleotide variant	not specified [RCV004125545]	Chr5:139848215 [GRCh38] Chr5:139227800 [GRCh37] Chr5:5q31.2	uncertain significance
NM_004883.3(NRG2):c.731G>A (p.Ser244Asn)	single nucleotide variant	not specified [RCV004177731]	Chr5:139887481 [GRCh38] Chr5:139267066 [GRCh37] Chr5:5q31.2	uncertain significance
NM_004883.3(NRG2):c.2090T>C (p.Leu697Pro)	single nucleotide variant	not specified [RCV004224096]	Chr5:139848380 [GRCh38] Chr5:139227965 [GRCh37] Chr5:5q31.2	uncertain significance
NM_004883.3(NRG2):c.2276C>T (p.Ala759Val)	single nucleotide variant	not specified [RCV004167775]	Chr5:139848194 [GRCh38] Chr5:139227779 [GRCh37] Chr5:5q31.2	uncertain significance
NM_004883.3(NRG2):c.1856A>C (p.Glu619Ala)	single nucleotide variant	not specified [RCV004221714]	Chr5:139848614 [GRCh38] Chr5:139228199 [GRCh37] Chr5:5q31.2	uncertain significance
NM_004883.3(NRG2):c.2095A>G (p.Ser699Gly)	single nucleotide variant	not specified [RCV004170891]	Chr5:139848375 [GRCh38] Chr5:139227960 [GRCh37] Chr5:5q31.2	uncertain significance
NM_004883.3(NRG2):c.964G>C (p.Val322Leu)	single nucleotide variant	not specified [RCV004266841]	Chr5:139880883 [GRCh38] Chr5:139260468 [GRCh37] Chr5:5q31.2	uncertain significance
NM_004883.3(NRG2):c.1813G>A (p.Val605Met)	single nucleotide variant	not specified [RCV004267115]	Chr5:139848657 [GRCh38] Chr5:139228242 [GRCh37] Chr5:5q31.2	uncertain significance
NM_004883.3(NRG2):c.511A>C (p.Ser171Arg)	single nucleotide variant	not specified [RCV004267365]	Chr5:140042559 [GRCh38] Chr5:139422144 [GRCh37] Chr5:5q31.2	uncertain significance
NM_004883.3(NRG2):c.1957C>G (p.Pro653Ala)	single nucleotide variant	not specified [RCV004261338]	Chr5:139848513 [GRCh38] Chr5:139228098 [GRCh37] Chr5:5q31.2	uncertain significance
NM_004883.3(NRG2):c.2071T>G (p.Cys691Gly)	single nucleotide variant	not specified [RCV004261708]	Chr5:139848399 [GRCh38] Chr5:139227984 [GRCh37] Chr5:5q31.2	uncertain significance
NM_004883.3(NRG2):c.1991C>G (p.Pro664Arg)	single nucleotide variant	not specified [RCV004256878]	Chr5:139848479 [GRCh38] Chr5:139228064 [GRCh37] Chr5:5q31.2	uncertain significance
NM_004883.3(NRG2):c.1016C>T (p.Ser339Leu)	single nucleotide variant	not specified [RCV004271410]	Chr5:139871817 [GRCh38] Chr5:139251402 [GRCh37] Chr5:5q31.2	uncertain significance
NM_004883.3(NRG2):c.2368G>A (p.Ala790Thr)	single nucleotide variant	not specified [RCV004339309]	Chr5:139848102 [GRCh38] Chr5:139227687 [GRCh37] Chr5:5q31.2	uncertain significance
NM_004883.3(NRG2):c.806G>A (p.Arg269His)	single nucleotide variant	not specified [RCV004348358]	Chr5:139887406 [GRCh38] Chr5:139266991 [GRCh37] Chr5:5q31.2	uncertain significance
NM_004883.3(NRG2):c.1874C>T (p.Ser625Leu)	single nucleotide variant	not specified [RCV004363607]	Chr5:139848596 [GRCh38] Chr5:139228181 [GRCh37] Chr5:5q31.2	uncertain significance
NM_004883.3(NRG2):c.187C>G (p.Pro63Ala)	single nucleotide variant	not specified [RCV004346479]	Chr5:140042883 [GRCh38] Chr5:139422468 [GRCh37] Chr5:5q31.2	uncertain significance
NM_004883.3(NRG2):c.2263C>G (p.Arg755Gly)	single nucleotide variant	not specified [RCV004359735]	Chr5:139848207 [GRCh38] Chr5:139227792 [GRCh37] Chr5:5q31.2	uncertain significance
NM_004883.3(NRG2):c.91G>C (p.Glu31Gln)	single nucleotide variant	not specified [RCV004351806]	Chr5:140042979 [GRCh38] Chr5:139422564 [GRCh37] Chr5:5q31.2	uncertain significance
NM_004883.3(NRG2):c.1469A>C (p.Glu490Ala)	single nucleotide variant	not specified [RCV004355483]	Chr5:139852507 [GRCh38] Chr5:139232092 [GRCh37] Chr5:5q31.2	uncertain significance
NM_004883.3(NRG2):c.1738G>A (p.Val580Met)	single nucleotide variant	not specified [RCV004493508]	Chr5:139851638 [GRCh38] Chr5:139231223 [GRCh37] Chr5:5q31.2	uncertain significance
NM_004883.3(NRG2):c.1952C>T (p.Pro651Leu)	single nucleotide variant	not specified [RCV004493509]	Chr5:139848518 [GRCh38] Chr5:139228103 [GRCh37] Chr5:5q31.2	uncertain significance
NM_004883.3(NRG2):c.1976G>C (p.Gly659Ala)	single nucleotide variant	not specified [RCV004493510]	Chr5:139848494 [GRCh38] Chr5:139228079 [GRCh37] Chr5:5q31.2	uncertain significance
NM_004883.3(NRG2):c.2420C>T (p.Ser807Leu)	single nucleotide variant	not specified [RCV004493520]	Chr5:139848050 [GRCh38] Chr5:139227635 [GRCh37] Chr5:5q31.2	uncertain significance
NM_004883.3(NRG2):c.634G>A (p.Ala212Thr)	single nucleotide variant	not specified [RCV004493524]	Chr5:140042436 [GRCh38] Chr5:139422021 [GRCh37] Chr5:5q31.2	uncertain significance
NM_004883.3(NRG2):c.1264G>A (p.Val422Ile)	single nucleotide variant	not specified [RCV004493506]	Chr5:139855704 [GRCh38] Chr5:139235289 [GRCh37] Chr5:5q31.2	uncertain significance
NM_004883.3(NRG2):c.1324C>T (p.Arg442Trp)	single nucleotide variant	not specified [RCV004493507]	Chr5:139852996 [GRCh38] Chr5:139232581 [GRCh37] Chr5:5q31.2	uncertain significance
NM_004883.3(NRG2):c.2122C>G (p.Pro708Ala)	single nucleotide variant	not specified [RCV004493513]	Chr5:139848348 [GRCh38] Chr5:139227933 [GRCh37] Chr5:5q31.2	uncertain significance
NM_004883.3(NRG2):c.218C>T (p.Pro73Leu)	single nucleotide variant	not specified [RCV004493514]	Chr5:140042852 [GRCh38] Chr5:139422437 [GRCh37] Chr5:5q31.2	uncertain significance
NM_004883.3(NRG2):c.2186C>A (p.Ala729Glu)	single nucleotide variant	not specified [RCV004493515]	Chr5:139848284 [GRCh38] Chr5:139227869 [GRCh37] Chr5:5q31.2	uncertain significance
NM_004883.3(NRG2):c.235C>T (p.Arg79Trp)	single nucleotide variant	not specified [RCV004493518]	Chr5:140042835 [GRCh38] Chr5:139422420 [GRCh37] Chr5:5q31.2	uncertain significance
NM_004883.3(NRG2):c.2374A>C (p.Ser792Arg)	single nucleotide variant	not specified [RCV004493519]	Chr5:139848096 [GRCh38] Chr5:139227681 [GRCh37] Chr5:5q31.2	uncertain significance
NM_004883.3(NRG2):c.62G>A (p.Ser21Asn)	single nucleotide variant	not specified [RCV004493523]	Chr5:140043008 [GRCh38] Chr5:139422593 [GRCh37] Chr5:5q31.2	uncertain significance
NM_004883.3(NRG2):c.2050C>T (p.Pro684Ser)	single nucleotide variant	not specified [RCV004493511]	Chr5:139848420 [GRCh38] Chr5:139228005 [GRCh37] Chr5:5q31.2	uncertain significance
NM_004883.3(NRG2):c.2197T>C (p.Ser733Pro)	single nucleotide variant	not specified [RCV004493516]	Chr5:139848273 [GRCh38] Chr5:139227858 [GRCh37] Chr5:5q31.2	uncertain significance
NM_004883.3(NRG2):c.244G>A (p.Ala82Thr)	single nucleotide variant	not specified [RCV004493521]	Chr5:140042826 [GRCh38] Chr5:139422411 [GRCh37] Chr5:5q31.2	uncertain significance
NM_004883.3(NRG2):c.433A>G (p.Ser145Gly)	single nucleotide variant	not specified [RCV004493522]	Chr5:140042637 [GRCh38] Chr5:139422222 [GRCh37] Chr5:5q31.2	uncertain significance
NM_004883.3(NRG2):c.2121C>G (p.Ile707Met)	single nucleotide variant	not specified [RCV004638697]	Chr5:139848349 [GRCh38] Chr5:139227934 [GRCh37] Chr5:5q31.2	uncertain significance
NM_004883.3(NRG2):c.1039G>A (p.Glu347Lys)	single nucleotide variant	not specified [RCV004650431]	Chr5:139871794 [GRCh38] Chr5:139251379 [GRCh37] Chr5:5q31.2	uncertain significance
NM_004883.3(NRG2):c.2372A>G (p.Glu791Gly)	single nucleotide variant	not specified [RCV004650432]	Chr5:139848098 [GRCh38] Chr5:139227683 [GRCh37] Chr5:5q31.2	uncertain significance
NM_004883.3(NRG2):c.1195G>A (p.Glu399Lys)	single nucleotide variant	not specified [RCV004638698]	Chr5:139855773 [GRCh38] Chr5:139235358 [GRCh37] Chr5:5q31.2	uncertain significance
NM_004883.3(NRG2):c.5G>A (p.Arg2Gln)	single nucleotide variant	not provided [RCV004575891]	Chr5:140043065 [GRCh38] Chr5:139422650 [GRCh37] Chr5:5q31.2	uncertain significance
NM_004883.3(NRG2):c.2270G>C (p.Arg757Pro)	single nucleotide variant	not specified [RCV004348762]	Chr5:139848200 [GRCh38] Chr5:139227785 [GRCh37] Chr5:5q31.2	uncertain significance

miRNA Target Status

Predicted Target Of

	Summary Value
Count of predictions:	4056
Count of miRNA genes:	967
Interacting mature miRNAs:	1213
Transcripts:	ENST00000289409, ENST00000289422, ENST00000340391, ENST00000358522, ENST00000361474, ENST00000378238, ENST00000394770, ENST00000518130, ENST00000519478, ENST00000541337, ENST00000545385
Prediction methods:	Microtar, Miranda, Rnahybrid, Targetscan
Result types:	miRGate_prediction

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

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

QTLs in Region (GRCh38)

The following QTLs overlap with this region.

RGD ID	Symbol	Name	LOD	P Value	Trait	Sub Trait	Chr	Start	Stop	Species
407230309	GWAS879285_H	gamma wave measurement QTL GWAS879285 (human)		0.000004	gamma wave measurement		5	140010792	140010793	Human
407344983	GWAS993959_H	schizophrenia QTL GWAS993959 (human)		0.000004	schizophrenia		5	139969330	139969331	Human
407060385	GWAS709361_H	gut microbiome measurement QTL GWAS709361 (human)		0.000007	gut microbiome measurement		5	140022757	140022758	Human
407120224	GWAS769200_H	hair colour measurement QTL GWAS769200 (human)		6e-09	hair colour measurement	coat/hair color measurement (CMO:0001808)	5	139943672	139943673	Human
407228193	GWAS877169_H	bone density QTL GWAS877169 (human)		1e-10	bone mineral mass (VT:0005007)	bone mineral density (CMO:0001226)	5	139890172	139890173	Human
407351810	GWAS1000786_H	educational attainment QTL GWAS1000786 (human)		2e-11	educational attainment		5	140031561	140031562	Human
1357314	AASTH54_H	Allergic/atopic asthma related QTL 54 (human)	3.56	0.0003	Reversible airflow obstruction	total serum IgE	5	135892246	150155845	Human
407351809	GWAS1000785_H	educational attainment QTL GWAS1000785 (human)		5e-09	educational attainment		5	139976096	139976097	Human
407226066	GWAS875042_H	bone density QTL GWAS875042 (human)		2e-08	bone mineral mass (VT:0005007)	bone mineral density (CMO:0001226)	5	139975998	139975999	Human
407136909	GWAS785885_H	interleukin-1 beta measurement, response to stimulus QTL GWAS785885 (human)		0.0000008	interleukin-1 beta measurement, response to stimulus		5	140031102	140031103	Human
407228223	GWAS877199_H	bone density QTL GWAS877199 (human)		2e-09	bone mineral mass (VT:0005007)	bone mineral density (CMO:0001226)	5	139906063	139906064	Human
407356826	GWAS1005802_H	BMI-adjusted hip circumference QTL GWAS1005802 (human)		8e-09	BMI-adjusted hip circumference	hip circumference (CMO:0000014)	5	139903282	139903283	Human

Markers in Region

L28239

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	5	139,412,607 - 139,412,738	UniSTS	GRCh37
Build 36	5	139,392,791 - 139,392,922	RGD	NCBI36
Celera	5	135,488,427 - 135,488,558	RGD
Cytogenetic Map	5	q23-q33	UniSTS
HuRef	5	134,555,784 - 134,555,915	UniSTS

bac51301S

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	5	139,261,198 - 139,261,322	UniSTS	GRCh37
Build 36	5	139,241,382 - 139,241,506	RGD	NCBI36
Celera	5	135,336,951 - 135,337,075	RGD
Cytogenetic Map	5	q23-q33	UniSTS
HuRef	5	134,404,526 - 134,404,650	UniSTS

bac51539T

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	5	139,321,586 - 139,321,850	UniSTS	GRCh37
Build 36	5	139,301,770 - 139,302,034	RGD	NCBI36
Celera	5	135,397,406 - 135,397,670	RGD
Cytogenetic Map	5	q23-q33	UniSTS
HuRef	5	134,464,918 - 134,465,182	UniSTS

bac51651T

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	5	139,416,005 - 139,416,192	UniSTS	GRCh37
Build 36	5	139,396,189 - 139,396,376	RGD	NCBI36
Celera	5	135,491,825 - 135,492,012	RGD
Cytogenetic Map	5	q23-q33	UniSTS
HuRef	5	134,559,182 - 134,559,369	UniSTS

bac51688T

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	5	139,384,808 - 139,385,013	UniSTS	GRCh37
Build 36	5	139,364,992 - 139,365,197	RGD	NCBI36
Celera	5	135,460,627 - 135,460,832	RGD
Cytogenetic Map	5	q23-q33	UniSTS
HuRef	5	134,528,189 - 134,528,394	UniSTS

B290YC9

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	5	139,343,835 - 139,344,025	UniSTS	GRCh37
Build 36	5	139,324,019 - 139,324,209	RGD	NCBI36
Celera	5	135,419,663 - 135,419,846	RGD
Cytogenetic Map	5	q23-q33	UniSTS
HuRef	5	134,487,177 - 134,487,360	UniSTS
Whitehead-RH Map	5	437.6	UniSTS
Whitehead-YAC Contig Map	5		UniSTS
NCBI RH Map	5	891.6	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	2356	2788	2232	4965	1680	2257	4	585	1647	423	2265	6905	6177	45	3730	1	845	1726	1565	172	1

Sequence

Nucleotide Sequences


RefSeq Transcripts	NM_001184935	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001410780	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_004883	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_013981	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_013982	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_013983	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_005268533	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_006714810	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_011537713	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_017010064	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_017010065	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_047417897	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054353829	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054353830	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054353831	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054353832	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XR_001742351	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XR_001742352	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
GenBank Nucleotide	AB005060	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AC008523	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AC008667	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AC010292	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AC011379	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AC094080	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AH009107	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AI271427	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK124504	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC103983	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC103984	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC114333	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC114334	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CH471062	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CP068273	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	DA090538	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	U92987	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles

Ensembl Acc Id:

ENST00000289409 ⟹ ENSP00000289409

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	5	139,847,917 - 140,043,069 (-)	Ensembl

Ensembl Acc Id:

ENST00000289422 ⟹ ENSP00000289422

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	5	139,847,649 - 140,043,147 (-)	Ensembl

Ensembl Acc Id:

ENST00000340391 ⟹ ENSP00000342660

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	5	139,847,917 - 139,904,478 (-)	Ensembl

Ensembl Acc Id:

ENST00000358522 ⟹ ENSP00000351323

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	5	139,847,917 - 140,043,069 (-)	Ensembl

Ensembl Acc Id:

ENST00000361474 ⟹ ENSP00000354910

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	5	139,846,781 - 140,043,299 (-)	Ensembl

Ensembl Acc Id:

ENST00000378238 ⟹ ENSP00000367483

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	5	139,851,753 - 140,043,069 (-)	Ensembl

Ensembl Acc Id:

ENST00000518130

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	5	139,869,538 - 139,904,310 (-)	Ensembl

Ensembl Acc Id:

ENST00000519478

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	5	139,869,399 - 139,871,803 (-)	Ensembl

Ensembl Acc Id:

ENST00000541337 ⟹ ENSP00000444235

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	5	139,846,779 - 140,043,299 (-)	Ensembl

RefSeq Acc Id:

NM_001184935 ⟹ NP_001171864

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	5	139,846,781 - 140,043,299 (-)	NCBI
GRCh37	5	139,226,364 - 139,422,884 (-)	NCBI
HuRef	5	134,369,651 - 134,566,061 (-)	ENTREZGENE
CHM1_1	5	138,659,474 - 138,855,994 (-)	NCBI
T2T-CHM13v2.0	5	140,371,883 - 140,568,402 (-)	NCBI

Sequence:

show sequence

ATCCTCCTCCAGGTCCTGGCGCACAGGGTGGGAGCGCTGCGCTGCGCCGCGCTGCGCATCGCGG
CCCGCTTGCCGCCTGCCCCCTGCCCTAGCTGGGCCACCTCCCCGGGCTGCCGGTGGAGGGCTAA
GAGGCGCTAACGTTACGCTGTTTCCGGTTTTCCAGCGGGCTCTGTTTCCCCTCCCAAGGCGGCG
GCGGCTGAGCGGCGGAGCCCCCCAAATGGCCTGGCCAGATGCGGCAGGTTTGCTGCTCAGCGCT
GCCGCCGCCGCCACTGGAGAAGGGTCGGTGCAGCAGCTACAGCGACAGCAGCAGCAGCAGCAGC
GAGAGGAGCAGCAGCAGCAGCAGCAGCAGCAGCGAGAGCGGCAGCAGCAGCAGGAGCAGCAGCA
ACAACAGCAGCATCTCTCGTCCCGCTGCGCCCCCAGAGCCGCGGCCGCAGCAACAGCCGCAGCC
CCGCAGCCCCGCAGCCCGGAGAGCCGCCGCCCGTTCGCGAGCCGCAGCCGCCGGCGGCATGAGG
CGCGACCCGGCCCCCGGCTTCTCCATGCTGCTCTTCGGTGTGTCGCTCGCCTGCTACTCGCCCA
GCCTCAAGTCAGTGCAGGACCAGGCGTACAAGGCACCCGTGGTGGTGGAGGGCAAGGTACAGGG
GCTGGTCCCAGCCGGCGGCTCCAGCTCCAACAGCACCCGAGAGCCGCCCGCCTCGGGTCGGGTG
GCGTTGGTAAAGGTGCTGGACAAGTGGCCGCTCCGGAGCGGGGGGCTGCAGCGCGAGCAGGTGA
TCAGCGTGGGCTCCTGTGTGCCGCTCGAAAGGAACCAGCGCTACATCTTTTTCCTGGAGCCCAC
GGAACAGCCCTTAGTCTTTAAGACGGCCTTTGCCCCCCTCGATACCAACGGCAAAAATCTCAAG
AAAGAGGTGGGCAAGATCCTGTGCACTGACTGCGCCACCCGGCCCAAGTTGAAGAAGATGAAGA
GCCAGACGGGACAGGTGGGTGAGAAGCAATCGCTGAAGTGTGAGGCAGCAGCCGGTAATCCCCA
GCCTTCCTACCGTTGGTTCAAGGATGGCAAGGAGCTCAACCGCAGCCGAGACATTCGCATCAAA
TATGGCAACGGCAGAAAGAACTCACGACTACAGTTCAACAAGGTGAAGGTGGAGGACGCTGGGG
AGTATGTCTGCGAGGCCGAGAACATCCTGGGGAAGGACACCGTCCGGGGCCGGCTTTACGTCAA
CAGCGAAGCCGAGGAGCTGTACCAGAAGAGGGTCCTGACCATCACGGGCATCTGCGTGGCTCTG
CTGGTCGTGGGCATCGTCTGTGTGGTGGCCTACTGCAAGACCAAAAAACAGCGGAAGCAGATGC
ACAACCACCTCCGGCAGAACATGTGCCCGGCCCATCAGAACCGGAGCTTGGCCAATGGGCCCAG
CCACCCCCGGCTGGACCCAGAGGAGATCCAGATGGCAGATTATATTTCCAAGAACGTGCCAGCC
ACAGACCATGTCATCAGGAGAGAAACTGAGACCACCTTCTCTGGGAGCCACTCCTGTTCTCCTT
CTCACCACTGCTCCACAGCCACACCCACCTCCAGCCACAGACACGAGAGCCACACGTGGAGCCT
GGAACGTTCTGAGAGCCTGACTTCTGACTCCCAGTCGGGGATCATGCTATCATCAGTGGGTACC
AGCAAATGCAACAGCCCAGCATGTGTGGAGGCCCGGGCAAGGCGGGCAGCAGCCTACAACCTGG
AGGAGCGGCGCAGGGCCACCGCGCCACCCTATCACGATTCCGTGGACTCCCTTCGCGACTCCCC
ACACAGCGAGAGGTACGTGTCGGCCCTGACCACGCCCGCGCGCCTCTCGCCCGTGGACTTCCAC
TACTCGCTGGCCACGCAGGTGCCAACTTTCGAGATCACGTCCCCCAACTCGGCGCACGCCGTGT
CGCTGCCGCCGGCGGCGCCCATCAGTTACCGCCTGGCCGAGCAGCAGCCGTTACTGCGGCACCC
GGCGCCCCCCGGCCCGGGACCCGGACCCGGGCCCGGGCCCGGGCCCGGCGCAGACATGCAGCGC
AGCTATGACAGCTACTATTACCCCGCGGCGGGGCCCGGACCGCGGCGCGGGACCTGCGCGCTCG
GCGGCAGCCTGGGCAGCCTGCCTGCCAGCCCCTTCCGCATCCCCGAGGACGACGAGTACGAGAC
CACGCAGGAGTGCGCGCCCCCGCCGCCGCCGCGGCCGCGCGCGCGCGGTGCGTCCCGCAGGACG
TCGGCGGGGCCCCGGCGCTGGCGCCGCTCGCGCCTCAACGGGCTGGCGGCGCAGCGCGCACGGG
CGGCGAGGGACTCGCTGTCGCTGAGCAGCGGCTCGGGCGGCGGCTCAGCCTCGGCGTCGGACGA
CGACGCGGACGACGCGGACGGGGCGCTGGCGGCCGAGAGCACACCTTTCCTGGGCCTGCGTGGG
GCGCACGACGCGCTGCGCTCGGACTCGCCGCCACTGTGCCCGGCGGCCGACAGCAGGACTTACT
ACTCACTGGACAGCCACAGCACGCGGGCCAGCAGCAGACACAGCCGCGGGCCGCCCCCGCGGGC
CAAGCAGGACTCGGCGCCACTCTAGGGCCCCGCCGCGCGCCCCTCCGCCCCGCCCGCCCCACTA
TCTTTAAGGAGACCAGAGACCGCCTACTGGAGAGAAAGGAGGAAAAAAGAAATAAAAATATTTT
TATTTTCTATAAAAGGAAAAAAGTATAACAAAATGTTTTATTTTCATTTTAGCAAAAATTGTCT
TATAATACTAGCTAACGGCAAAGGCGTTTTTATAGGGAAACTATTTATATGTAACATCCTGATT
TACAGCTTCGGAAAAAAAAAAGAAACAACAAAAAAAAAAGAGAGATGGGCCAATTTTTTGACTC
TTTAATAGAAACCTATTTTGTGGTGCCTTTTGCTGTATGCTCATCTGGGGCTCCGGGGGACAGG
TCTGGGTTGTGGGGTGCTGAGAGTGACAGCTGGGAGAGAAGAGGTGCGGGTTCTGTTGGGGGCG
AGGGTGGGGGGCGGTGGGGGGTTGGCCCTAAGGAAGAACTGAGGACGGAAGTAGCTTTGCTCCC
AGGCAAGAGCTGAAGTTCCCGACCCCTGGGAGGAGAGGGCCAGGACCCTAGGCTTGGAGCTGGA
GCTGGGGTAACTTCCAGGGGGAGATAAAGACACAGCTACCCGAATGGGGAAGCCCTGGCTACTC
ACAGCTGTTAAAGGAGGGGGGGCAGAGAAACGTTTCCCCAAGAGCCTGAGCCCAGGGAGGTGGC
AGCTCTGCCAGGGGCCCAATGTTGGCGGCTCCTGTCCCCCACAGCCTCCAGGACGCCCCTCCGT
CCTCTGCAGCACCTTCGTTTACAGGTCGTCTTTTCTATTTTACACCTGCATGTCCTTTGCATTT
CAGATTCTTTAGATTGGATGCATGGTCACGCTGGGACCGAGAAGAGCCACTCGACAGTGTATTC
CCCTTTTAGCAATAAAGTAACACCATTTCCTTCTCACAGGCTGCCTCCTAGCCCCCAACCCACC
TATGACATCCACTCGTCTCCAGTCCTGCCCTCCCACCCCCAAAAACTGGGTCCACTGCTAATTT
GTCAAAAAGGTAATTGTTTAAAAAAAAAAAAAATCCCAAACAGAAACAGATGGGAATCCTGTCC
TGAAATGTCTGAACACCTGACTGTTGACACTTGAACATTTTTATATTATAAATAAAATCAGAAA
TAACTCCTG

hide sequence

RefSeq Acc Id:

NM_001410780 ⟹ NP_001397709

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	5	139,846,781 - 139,904,471 (-)	NCBI
T2T-CHM13v2.0	5	140,371,883 - 140,429,577 (-)	NCBI

RefSeq Acc Id:

NM_004883 ⟹ NP_004874

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	5	139,846,781 - 140,043,299 (-)	NCBI
GRCh37	5	139,226,364 - 139,422,884 (-)	ENTREZGENE
GRCh37	5	139,226,364 - 139,422,884 (-)	NCBI
Build 36	5	139,207,444 - 139,403,063 (-)	NCBI Archive
HuRef	5	134,369,651 - 134,566,061 (-)	ENTREZGENE
CHM1_1	5	138,659,474 - 138,855,994 (-)	NCBI
T2T-CHM13v2.0	5	140,371,883 - 140,568,402 (-)	NCBI

Sequence:

show sequence

ATCCTCCTCCAGGTCCTGGCGCACAGGGTGGGAGCGCTGCGCTGCGCCGCGCTGCGCATCGCGG
CCCGCTTGCCGCCTGCCCCCTGCCCTAGCTGGGCCACCTCCCCGGGCTGCCGGTGGAGGGCTAA
GAGGCGCTAACGTTACGCTGTTTCCGGTTTTCCAGCGGGCTCTGTTTCCCCTCCCAAGGCGGCG
GCGGCTGAGCGGCGGAGCCCCCCAAATGGCCTGGCCAGATGCGGCAGGTTTGCTGCTCAGCGCT
GCCGCCGCCGCCACTGGAGAAGGGTCGGTGCAGCAGCTACAGCGACAGCAGCAGCAGCAGCAGC
GAGAGGAGCAGCAGCAGCAGCAGCAGCAGCAGCGAGAGCGGCAGCAGCAGCAGGAGCAGCAGCA
ACAACAGCAGCATCTCTCGTCCCGCTGCGCCCCCAGAGCCGCGGCCGCAGCAACAGCCGCAGCC
CCGCAGCCCCGCAGCCCGGAGAGCCGCCGCCCGTTCGCGAGCCGCAGCCGCCGGCGGCATGAGG
CGCGACCCGGCCCCCGGCTTCTCCATGCTGCTCTTCGGTGTGTCGCTCGCCTGCTACTCGCCCA
GCCTCAAGTCAGTGCAGGACCAGGCGTACAAGGCACCCGTGGTGGTGGAGGGCAAGGTACAGGG
GCTGGTCCCAGCCGGCGGCTCCAGCTCCAACAGCACCCGAGAGCCGCCCGCCTCGGGTCGGGTG
GCGTTGGTAAAGGTGCTGGACAAGTGGCCGCTCCGGAGCGGGGGGCTGCAGCGCGAGCAGGTGA
TCAGCGTGGGCTCCTGTGTGCCGCTCGAAAGGAACCAGCGCTACATCTTTTTCCTGGAGCCCAC
GGAACAGCCCTTAGTCTTTAAGACGGCCTTTGCCCCCCTCGATACCAACGGCAAAAATCTCAAG
AAAGAGGTGGGCAAGATCCTGTGCACTGACTGCGCCACCCGGCCCAAGTTGAAGAAGATGAAGA
GCCAGACGGGACAGGTGGGTGAGAAGCAATCGCTGAAGTGTGAGGCAGCAGCCGGTAATCCCCA
GCCTTCCTACCGTTGGTTCAAGGATGGCAAGGAGCTCAACCGCAGCCGAGACATTCGCATCAAA
TATGGCAACGGCAGAAAGAACTCACGACTACAGTTCAACAAGGTGAAGGTGGAGGACGCTGGGG
AGTATGTCTGCGAGGCCGAGAACATCCTGGGGAAGGACACCGTCCGGGGCCGGCTTTACGTCAA
CAGCGTGAGCACCACCCTGTCATCCTGGTCGGGGCACGCCCGGAAGTGCAACGAGACAGCCAAG
TCCTATTGCGTCAATGGAGGCGTCTGCTACTACATCGAGGGCATCAACCAGCTCTCCTGCAAAT
GTCCAAATGGATTCTTCGGACAGAGATGTTTGGAGAAACTGCCTTTGCGATTGTACATGCCAGA
TCCTAAGCAAAAAGCCGAGGAGCTGTACCAGAAGAGGGTCCTGACCATCACGGGCATCTGCGTG
GCTCTGCTGGTCGTGGGCATCGTCTGTGTGGTGGCCTACTGCAAGACCAAAAAACAGCGGAAGC
AGATGCACAACCACCTCCGGCAGAACATGTGCCCGGCCCATCAGAACCGGAGCTTGGCCAATGG
GCCCAGCCACCCCCGGCTGGACCCAGAGGAGATCCAGATGGCAGATTATATTTCCAAGAACGTG
CCAGCCACAGACCATGTCATCAGGAGAGAAACTGAGACCACCTTCTCTGGGAGCCACTCCTGTT
CTCCTTCTCACCACTGCTCCACAGCCACACCCACCTCCAGCCACAGACACGAGAGCCACACGTG
GAGCCTGGAACGTTCTGAGAGCCTGACTTCTGACTCCCAGTCGGGGATCATGCTATCATCAGTG
GGTACCAGCAAATGCAACAGCCCAGCATGTGTGGAGGCCCGGGCAAGGCGGGCAGCAGCCTACA
ACCTGGAGGAGCGGCGCAGGGCCACCGCGCCACCCTATCACGATTCCGTGGACTCCCTTCGCGA
CTCCCCACACAGCGAGAGGTACGTGTCGGCCCTGACCACGCCCGCGCGCCTCTCGCCCGTGGAC
TTCCACTACTCGCTGGCCACGCAGGTGCCAACTTTCGAGATCACGTCCCCCAACTCGGCGCACG
CCGTGTCGCTGCCGCCGGCGGCGCCCATCAGTTACCGCCTGGCCGAGCAGCAGCCGTTACTGCG
GCACCCGGCGCCCCCCGGCCCGGGACCCGGACCCGGGCCCGGGCCCGGGCCCGGCGCAGACATG
CAGCGCAGCTATGACAGCTACTATTACCCCGCGGCGGGGCCCGGACCGCGGCGCGGGACCTGCG
CGCTCGGCGGCAGCCTGGGCAGCCTGCCTGCCAGCCCCTTCCGCATCCCCGAGGACGACGAGTA
CGAGACCACGCAGGAGTGCGCGCCCCCGCCGCCGCCGCGGCCGCGCGCGCGCGGTGCGTCCCGC
AGGACGTCGGCGGGGCCCCGGCGCTGGCGCCGCTCGCGCCTCAACGGGCTGGCGGCGCAGCGCG
CACGGGCGGCGAGGGACTCGCTGTCGCTGAGCAGCGGCTCGGGCGGCGGCTCAGCCTCGGCGTC
GGACGACGACGCGGACGACGCGGACGGGGCGCTGGCGGCCGAGAGCACACCTTTCCTGGGCCTG
CGTGGGGCGCACGACGCGCTGCGCTCGGACTCGCCGCCACTGTGCCCGGCGGCCGACAGCAGGA
CTTACTACTCACTGGACAGCCACAGCACGCGGGCCAGCAGCAGACACAGCCGCGGGCCGCCCCC
GCGGGCCAAGCAGGACTCGGCGCCACTCTAGGGCCCCGCCGCGCGCCCCTCCGCCCCGCCCGCC
CCACTATCTTTAAGGAGACCAGAGACCGCCTACTGGAGAGAAAGGAGGAAAAAAGAAATAAAAA
TATTTTTATTTTCTATAAAAGGAAAAAAGTATAACAAAATGTTTTATTTTCATTTTAGCAAAAA
TTGTCTTATAATACTAGCTAACGGCAAAGGCGTTTTTATAGGGAAACTATTTATATGTAACATC
CTGATTTACAGCTTCGGAAAAAAAAAAGAAACAACAAAAAAAAAAGAGAGATGGGCCAATTTTT
TGACTCTTTAATAGAAACCTATTTTGTGGTGCCTTTTGCTGTATGCTCATCTGGGGCTCCGGGG
GACAGGTCTGGGTTGTGGGGTGCTGAGAGTGACAGCTGGGAGAGAAGAGGTGCGGGTTCTGTTG
GGGGCGAGGGTGGGGGGCGGTGGGGGGTTGGCCCTAAGGAAGAACTGAGGACGGAAGTAGCTTT
GCTCCCAGGCAAGAGCTGAAGTTCCCGACCCCTGGGAGGAGAGGGCCAGGACCCTAGGCTTGGA
GCTGGAGCTGGGGTAACTTCCAGGGGGAGATAAAGACACAGCTACCCGAATGGGGAAGCCCTGG
CTACTCACAGCTGTTAAAGGAGGGGGGGCAGAGAAACGTTTCCCCAAGAGCCTGAGCCCAGGGA
GGTGGCAGCTCTGCCAGGGGCCCAATGTTGGCGGCTCCTGTCCCCCACAGCCTCCAGGACGCCC
CTCCGTCCTCTGCAGCACCTTCGTTTACAGGTCGTCTTTTCTATTTTACACCTGCATGTCCTTT
GCATTTCAGATTCTTTAGATTGGATGCATGGTCACGCTGGGACCGAGAAGAGCCACTCGACAGT
GTATTCCCCTTTTAGCAATAAAGTAACACCATTTCCTTCTCACAGGCTGCCTCCTAGCCCCCAA
CCCACCTATGACATCCACTCGTCTCCAGTCCTGCCCTCCCACCCCCAAAAACTGGGTCCACTGC
TAATTTGTCAAAAAGGTAATTGTTTAAAAAAAAAAAAAATCCCAAACAGAAACAGATGGGAATC
CTGTCCTGAAATGTCTGAACACCTGACTGTTGACACTTGAACATTTTTATATTATAAATAAAAT
CAGAAATAACTCCTG

hide sequence

RefSeq Acc Id:

NM_013981 ⟹ NP_053584

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	5	139,846,781 - 140,043,299 (-)	NCBI
GRCh37	5	139,226,364 - 139,422,884 (-)	ENTREZGENE
GRCh37	5	139,226,364 - 139,422,884 (-)	NCBI
Build 36	5	139,207,444 - 139,403,063 (-)	NCBI Archive
HuRef	5	134,369,651 - 134,566,061 (-)	ENTREZGENE
CHM1_1	5	138,659,474 - 138,855,994 (-)	NCBI
T2T-CHM13v2.0	5	140,371,883 - 140,568,402 (-)	NCBI

Sequence:

show sequence

ATCCTCCTCCAGGTCCTGGCGCACAGGGTGGGAGCGCTGCGCTGCGCCGCGCTGCGCATCGCGG
CCCGCTTGCCGCCTGCCCCCTGCCCTAGCTGGGCCACCTCCCCGGGCTGCCGGTGGAGGGCTAA
GAGGCGCTAACGTTACGCTGTTTCCGGTTTTCCAGCGGGCTCTGTTTCCCCTCCCAAGGCGGCG
GCGGCTGAGCGGCGGAGCCCCCCAAATGGCCTGGCCAGATGCGGCAGGTTTGCTGCTCAGCGCT
GCCGCCGCCGCCACTGGAGAAGGGTCGGTGCAGCAGCTACAGCGACAGCAGCAGCAGCAGCAGC
GAGAGGAGCAGCAGCAGCAGCAGCAGCAGCAGCGAGAGCGGCAGCAGCAGCAGGAGCAGCAGCA
ACAACAGCAGCATCTCTCGTCCCGCTGCGCCCCCAGAGCCGCGGCCGCAGCAACAGCCGCAGCC
CCGCAGCCCCGCAGCCCGGAGAGCCGCCGCCCGTTCGCGAGCCGCAGCCGCCGGCGGCATGAGG
CGCGACCCGGCCCCCGGCTTCTCCATGCTGCTCTTCGGTGTGTCGCTCGCCTGCTACTCGCCCA
GCCTCAAGTCAGTGCAGGACCAGGCGTACAAGGCACCCGTGGTGGTGGAGGGCAAGGTACAGGG
GCTGGTCCCAGCCGGCGGCTCCAGCTCCAACAGCACCCGAGAGCCGCCCGCCTCGGGTCGGGTG
GCGTTGGTAAAGGTGCTGGACAAGTGGCCGCTCCGGAGCGGGGGGCTGCAGCGCGAGCAGGTGA
TCAGCGTGGGCTCCTGTGTGCCGCTCGAAAGGAACCAGCGCTACATCTTTTTCCTGGAGCCCAC
GGAACAGCCCTTAGTCTTTAAGACGGCCTTTGCCCCCCTCGATACCAACGGCAAAAATCTCAAG
AAAGAGGTGGGCAAGATCCTGTGCACTGACTGCGCCACCCGGCCCAAGTTGAAGAAGATGAAGA
GCCAGACGGGACAGGTGGGTGAGAAGCAATCGCTGAAGTGTGAGGCAGCAGCCGGTAATCCCCA
GCCTTCCTACCGTTGGTTCAAGGATGGCAAGGAGCTCAACCGCAGCCGAGACATTCGCATCAAA
TATGGCAACGGCAGAAAGAACTCACGACTACAGTTCAACAAGGTGAAGGTGGAGGACGCTGGGG
AGTATGTCTGCGAGGCCGAGAACATCCTGGGGAAGGACACCGTCCGGGGCCGGCTTTACGTCAA
CAGCGTGAGCACCACCCTGTCATCCTGGTCGGGGCACGCCCGGAAGTGCAACGAGACAGCCAAG
TCCTATTGCGTCAATGGAGGCGTCTGCTACTACATCGAGGGCATCAACCAGCTCTCCTGCAAGT
GTCCTGTGGGATACACCGGGGACAGGTGTCAGCAGTTCGCAATGGTCAACTTCTCCAAAGCCGA
GGAGCTGTACCAGAAGAGGGTCCTGACCATCACGGGCATCTGCGTGGCTCTGCTGGTCGTGGGC
ATCGTCTGTGTGGTGGCCTACTGCAAGACCAAAAAACAGCGGAAGCAGATGCACAACCACCTCC
GGCAGAACATGTGCCCGGCCCATCAGAACCGGAGCTTGGCCAATGGGCCCAGCCACCCCCGGCT
GGACCCAGAGGAGATCCAGATGGCAGATTATATTTCCAAGAACGTGCCAGCCACAGACCATGTC
ATCAGGAGAGAAACTGAGACCACCTTCTCTGGGAGCCACTCCTGTTCTCCTTCTCACCACTGCT
CCACAGCCACACCCACCTCCAGCCACAGACACGAGAGCCACACGTGGAGCCTGGAACGTTCTGA
GAGCCTGACTTCTGACTCCCAGTCGGGGATCATGCTATCATCAGTGGGTACCAGCAAATGCAAC
AGCCCAGCATGTGTGGAGGCCCGGGCAAGGCGGGCAGCAGCCTACAACCTGGAGGAGCGGCGCA
GGGCCACCGCGCCACCCTATCACGATTCCGTGGACTCCCTTCGCGACTCCCCACACAGCGAGAG
GTACGTGTCGGCCCTGACCACGCCCGCGCGCCTCTCGCCCGTGGACTTCCACTACTCGCTGGCC
ACGCAGGTGCCAACTTTCGAGATCACGTCCCCCAACTCGGCGCACGCCGTGTCGCTGCCGCCGG
CGGCGCCCATCAGTTACCGCCTGGCCGAGCAGCAGCCGTTACTGCGGCACCCGGCGCCCCCCGG
CCCGGGACCCGGACCCGGGCCCGGGCCCGGGCCCGGCGCAGACATGCAGCGCAGCTATGACAGC
TACTATTACCCCGCGGCGGGGCCCGGACCGCGGCGCGGGACCTGCGCGCTCGGCGGCAGCCTGG
GCAGCCTGCCTGCCAGCCCCTTCCGCATCCCCGAGGACGACGAGTACGAGACCACGCAGGAGTG
CGCGCCCCCGCCGCCGCCGCGGCCGCGCGCGCGCGGTGCGTCCCGCAGGACGTCGGCGGGGCCC
CGGCGCTGGCGCCGCTCGCGCCTCAACGGGCTGGCGGCGCAGCGCGCACGGGCGGCGAGGGACT
CGCTGTCGCTGAGCAGCGGCTCGGGCGGCGGCTCAGCCTCGGCGTCGGACGACGACGCGGACGA
CGCGGACGGGGCGCTGGCGGCCGAGAGCACACCTTTCCTGGGCCTGCGTGGGGCGCACGACGCG
CTGCGCTCGGACTCGCCGCCACTGTGCCCGGCGGCCGACAGCAGGACTTACTACTCACTGGACA
GCCACAGCACGCGGGCCAGCAGCAGACACAGCCGCGGGCCGCCCCCGCGGGCCAAGCAGGACTC
GGCGCCACTCTAGGGCCCCGCCGCGCGCCCCTCCGCCCCGCCCGCCCCACTATCTTTAAGGAGA
CCAGAGACCGCCTACTGGAGAGAAAGGAGGAAAAAAGAAATAAAAATATTTTTATTTTCTATAA
AAGGAAAAAAGTATAACAAAATGTTTTATTTTCATTTTAGCAAAAATTGTCTTATAATACTAGC
TAACGGCAAAGGCGTTTTTATAGGGAAACTATTTATATGTAACATCCTGATTTACAGCTTCGGA
AAAAAAAAAGAAACAACAAAAAAAAAAGAGAGATGGGCCAATTTTTTGACTCTTTAATAGAAAC
CTATTTTGTGGTGCCTTTTGCTGTATGCTCATCTGGGGCTCCGGGGGACAGGTCTGGGTTGTGG
GGTGCTGAGAGTGACAGCTGGGAGAGAAGAGGTGCGGGTTCTGTTGGGGGCGAGGGTGGGGGGC
GGTGGGGGGTTGGCCCTAAGGAAGAACTGAGGACGGAAGTAGCTTTGCTCCCAGGCAAGAGCTG
AAGTTCCCGACCCCTGGGAGGAGAGGGCCAGGACCCTAGGCTTGGAGCTGGAGCTGGGGTAACT
TCCAGGGGGAGATAAAGACACAGCTACCCGAATGGGGAAGCCCTGGCTACTCACAGCTGTTAAA
GGAGGGGGGGCAGAGAAACGTTTCCCCAAGAGCCTGAGCCCAGGGAGGTGGCAGCTCTGCCAGG
GGCCCAATGTTGGCGGCTCCTGTCCCCCACAGCCTCCAGGACGCCCCTCCGTCCTCTGCAGCAC
CTTCGTTTACAGGTCGTCTTTTCTATTTTACACCTGCATGTCCTTTGCATTTCAGATTCTTTAG
ATTGGATGCATGGTCACGCTGGGACCGAGAAGAGCCACTCGACAGTGTATTCCCCTTTTAGCAA
TAAAGTAACACCATTTCCTTCTCACAGGCTGCCTCCTAGCCCCCAACCCACCTATGACATCCAC
TCGTCTCCAGTCCTGCCCTCCCACCCCCAAAAACTGGGTCCACTGCTAATTTGTCAAAAAGGTA
ATTGTTTAAAAAAAAAAAAAATCCCAAACAGAAACAGATGGGAATCCTGTCCTGAAATGTCTGA
ACACCTGACTGTTGACACTTGAACATTTTTATATTATAAATAAAATCAGAAATAACTCCTG

hide sequence

RefSeq Acc Id:

NM_013982 ⟹ NP_053585

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	5	139,846,781 - 140,043,299 (-)	NCBI
GRCh37	5	139,226,364 - 139,422,884 (-)	ENTREZGENE
GRCh37	5	139,226,364 - 139,422,884 (-)	NCBI
Build 36	5	139,207,444 - 139,403,063 (-)	NCBI Archive
HuRef	5	134,369,651 - 134,566,061 (-)	ENTREZGENE
CHM1_1	5	138,659,474 - 138,855,994 (-)	NCBI
T2T-CHM13v2.0	5	140,371,883 - 140,568,402 (-)	NCBI

Sequence:

show sequence

ATCCTCCTCCAGGTCCTGGCGCACAGGGTGGGAGCGCTGCGCTGCGCCGCGCTGCGCATCGCGG
CCCGCTTGCCGCCTGCCCCCTGCCCTAGCTGGGCCACCTCCCCGGGCTGCCGGTGGAGGGCTAA
GAGGCGCTAACGTTACGCTGTTTCCGGTTTTCCAGCGGGCTCTGTTTCCCCTCCCAAGGCGGCG
GCGGCTGAGCGGCGGAGCCCCCCAAATGGCCTGGCCAGATGCGGCAGGTTTGCTGCTCAGCGCT
GCCGCCGCCGCCACTGGAGAAGGGTCGGTGCAGCAGCTACAGCGACAGCAGCAGCAGCAGCAGC
GAGAGGAGCAGCAGCAGCAGCAGCAGCAGCAGCGAGAGCGGCAGCAGCAGCAGGAGCAGCAGCA
ACAACAGCAGCATCTCTCGTCCCGCTGCGCCCCCAGAGCCGCGGCCGCAGCAACAGCCGCAGCC
CCGCAGCCCCGCAGCCCGGAGAGCCGCCGCCCGTTCGCGAGCCGCAGCCGCCGGCGGCATGAGG
CGCGACCCGGCCCCCGGCTTCTCCATGCTGCTCTTCGGTGTGTCGCTCGCCTGCTACTCGCCCA
GCCTCAAGTCAGTGCAGGACCAGGCGTACAAGGCACCCGTGGTGGTGGAGGGCAAGGTACAGGG
GCTGGTCCCAGCCGGCGGCTCCAGCTCCAACAGCACCCGAGAGCCGCCCGCCTCGGGTCGGGTG
GCGTTGGTAAAGGTGCTGGACAAGTGGCCGCTCCGGAGCGGGGGGCTGCAGCGCGAGCAGGTGA
TCAGCGTGGGCTCCTGTGTGCCGCTCGAAAGGAACCAGCGCTACATCTTTTTCCTGGAGCCCAC
GGAACAGCCCTTAGTCTTTAAGACGGCCTTTGCCCCCCTCGATACCAACGGCAAAAATCTCAAG
AAAGAGGTGGGCAAGATCCTGTGCACTGACTGCGCCACCCGGCCCAAGTTGAAGAAGATGAAGA
GCCAGACGGGACAGGTGGGTGAGAAGCAATCGCTGAAGTGTGAGGCAGCAGCCGGTAATCCCCA
GCCTTCCTACCGTTGGTTCAAGGATGGCAAGGAGCTCAACCGCAGCCGAGACATTCGCATCAAA
TATGGCAACGGCAGAAAGAACTCACGACTACAGTTCAACAAGGTGAAGGTGGAGGACGCTGGGG
AGTATGTCTGCGAGGCCGAGAACATCCTGGGGAAGGACACCGTCCGGGGCCGGCTTTACGTCAA
CAGCGTGAGCACCACCCTGTCATCCTGGTCGGGGCACGCCCGGAAGTGCAACGAGACAGCCAAG
TCCTATTGCGTCAATGGAGGCGTCTGCTACTACATCGAGGGCATCAACCAGCTCTCCTGCAAAT
GTCCAAATGGATTCTTCGGACAGAGATGTTTGGAGAAACTGCCTTTGCGATTGTACATGCCAGA
TCCTAAGCAAAAGCACCTTGGATTTGAATTAAAGGAAGCCGAGGAGCTGTACCAGAAGAGGGTC
CTGACCATCACGGGCATCTGCGTGGCTCTGCTGGTCGTGGGCATCGTCTGTGTGGTGGCCTACT
GCAAGACCAAAAAACAGCGGAAGCAGATGCACAACCACCTCCGGCAGAACATGTGCCCGGCCCA
TCAGAACCGGAGCTTGGCCAATGGGCCCAGCCACCCCCGGCTGGACCCAGAGGAGATCCAGATG
GCAGATTATATTTCCAAGAACGTGCCAGCCACAGACCATGTCATCAGGAGAGAAACTGAGACCA
CCTTCTCTGGGAGCCACTCCTGTTCTCCTTCTCACCACTGCTCCACAGCCACACCCACCTCCAG
CCACAGACACGAGAGCCACACGTGGAGCCTGGAACGTTCTGAGAGCCTGACTTCTGACTCCCAG
TCGGGGATCATGCTATCATCAGTGGGTACCAGCAAATGCAACAGCCCAGCATGTGTGGAGGCCC
GGGCAAGGCGGGCAGCAGCCTACAACCTGGAGGAGCGGCGCAGGGCCACCGCGCCACCCTATCA
CGATTCCGTGGACTCCCTTCGCGACTCCCCACACAGCGAGAGGTACGTGTCGGCCCTGACCACG
CCCGCGCGCCTCTCGCCCGTGGACTTCCACTACTCGCTGGCCACGCAGGTGCCAACTTTCGAGA
TCACGTCCCCCAACTCGGCGCACGCCGTGTCGCTGCCGCCGGCGGCGCCCATCAGTTACCGCCT
GGCCGAGCAGCAGCCGTTACTGCGGCACCCGGCGCCCCCCGGCCCGGGACCCGGACCCGGGCCC
GGGCCCGGGCCCGGCGCAGACATGCAGCGCAGCTATGACAGCTACTATTACCCCGCGGCGGGGC
CCGGACCGCGGCGCGGGACCTGCGCGCTCGGCGGCAGCCTGGGCAGCCTGCCTGCCAGCCCCTT
CCGCATCCCCGAGGACGACGAGTACGAGACCACGCAGGAGTGCGCGCCCCCGCCGCCGCCGCGG
CCGCGCGCGCGCGGTGCGTCCCGCAGGACGTCGGCGGGGCCCCGGCGCTGGCGCCGCTCGCGCC
TCAACGGGCTGGCGGCGCAGCGCGCACGGGCGGCGAGGGACTCGCTGTCGCTGAGCAGCGGCTC
GGGCGGCGGCTCAGCCTCGGCGTCGGACGACGACGCGGACGACGCGGACGGGGCGCTGGCGGCC
GAGAGCACACCTTTCCTGGGCCTGCGTGGGGCGCACGACGCGCTGCGCTCGGACTCGCCGCCAC
TGTGCCCGGCGGCCGACAGCAGGACTTACTACTCACTGGACAGCCACAGCACGCGGGCCAGCAG
CAGACACAGCCGCGGGCCGCCCCCGCGGGCCAAGCAGGACTCGGCGCCACTCTAGGGCCCCGCC
GCGCGCCCCTCCGCCCCGCCCGCCCCACTATCTTTAAGGAGACCAGAGACCGCCTACTGGAGAG
AAAGGAGGAAAAAAGAAATAAAAATATTTTTATTTTCTATAAAAGGAAAAAAGTATAACAAAAT
GTTTTATTTTCATTTTAGCAAAAATTGTCTTATAATACTAGCTAACGGCAAAGGCGTTTTTATA
GGGAAACTATTTATATGTAACATCCTGATTTACAGCTTCGGAAAAAAAAAAGAAACAACAAAAA
AAAAAGAGAGATGGGCCAATTTTTTGACTCTTTAATAGAAACCTATTTTGTGGTGCCTTTTGCT
GTATGCTCATCTGGGGCTCCGGGGGACAGGTCTGGGTTGTGGGGTGCTGAGAGTGACAGCTGGG
AGAGAAGAGGTGCGGGTTCTGTTGGGGGCGAGGGTGGGGGGCGGTGGGGGGTTGGCCCTAAGGA
AGAACTGAGGACGGAAGTAGCTTTGCTCCCAGGCAAGAGCTGAAGTTCCCGACCCCTGGGAGGA
GAGGGCCAGGACCCTAGGCTTGGAGCTGGAGCTGGGGTAACTTCCAGGGGGAGATAAAGACACA
GCTACCCGAATGGGGAAGCCCTGGCTACTCACAGCTGTTAAAGGAGGGGGGGCAGAGAAACGTT
TCCCCAAGAGCCTGAGCCCAGGGAGGTGGCAGCTCTGCCAGGGGCCCAATGTTGGCGGCTCCTG
TCCCCCACAGCCTCCAGGACGCCCCTCCGTCCTCTGCAGCACCTTCGTTTACAGGTCGTCTTTT
CTATTTTACACCTGCATGTCCTTTGCATTTCAGATTCTTTAGATTGGATGCATGGTCACGCTGG
GACCGAGAAGAGCCACTCGACAGTGTATTCCCCTTTTAGCAATAAAGTAACACCATTTCCTTCT
CACAGGCTGCCTCCTAGCCCCCAACCCACCTATGACATCCACTCGTCTCCAGTCCTGCCCTCCC
ACCCCCAAAAACTGGGTCCACTGCTAATTTGTCAAAAAGGTAATTGTTTAAAAAAAAAAAAAAT
CCCAAACAGAAACAGATGGGAATCCTGTCCTGAAATGTCTGAACACCTGACTGTTGACACTTGA
ACATTTTTATATTATAAATAAAATCAGAAATAACTCCTG

hide sequence

RefSeq Acc Id:

NM_013983 ⟹ NP_053586

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	5	139,846,781 - 140,043,299 (-)	NCBI
GRCh37	5	139,226,364 - 139,422,884 (-)	ENTREZGENE
GRCh37	5	139,226,364 - 139,422,884 (-)	NCBI
Build 36	5	139,207,444 - 139,403,063 (-)	NCBI Archive
HuRef	5	134,369,651 - 134,566,061 (-)	ENTREZGENE
CHM1_1	5	138,659,474 - 138,855,994 (-)	NCBI
T2T-CHM13v2.0	5	140,371,883 - 140,568,402 (-)	NCBI

Sequence:

show sequence

ATCCTCCTCCAGGTCCTGGCGCACAGGGTGGGAGCGCTGCGCTGCGCCGCGCTGCGCATCGCGG
CCCGCTTGCCGCCTGCCCCCTGCCCTAGCTGGGCCACCTCCCCGGGCTGCCGGTGGAGGGCTAA
GAGGCGCTAACGTTACGCTGTTTCCGGTTTTCCAGCGGGCTCTGTTTCCCCTCCCAAGGCGGCG
GCGGCTGAGCGGCGGAGCCCCCCAAATGGCCTGGCCAGATGCGGCAGGTTTGCTGCTCAGCGCT
GCCGCCGCCGCCACTGGAGAAGGGTCGGTGCAGCAGCTACAGCGACAGCAGCAGCAGCAGCAGC
GAGAGGAGCAGCAGCAGCAGCAGCAGCAGCAGCGAGAGCGGCAGCAGCAGCAGGAGCAGCAGCA
ACAACAGCAGCATCTCTCGTCCCGCTGCGCCCCCAGAGCCGCGGCCGCAGCAACAGCCGCAGCC
CCGCAGCCCCGCAGCCCGGAGAGCCGCCGCCCGTTCGCGAGCCGCAGCCGCCGGCGGCATGAGG
CGCGACCCGGCCCCCGGCTTCTCCATGCTGCTCTTCGGTGTGTCGCTCGCCTGCTACTCGCCCA
GCCTCAAGTCAGTGCAGGACCAGGCGTACAAGGCACCCGTGGTGGTGGAGGGCAAGGTACAGGG
GCTGGTCCCAGCCGGCGGCTCCAGCTCCAACAGCACCCGAGAGCCGCCCGCCTCGGGTCGGGTG
GCGTTGGTAAAGGTGCTGGACAAGTGGCCGCTCCGGAGCGGGGGGCTGCAGCGCGAGCAGGTGA
TCAGCGTGGGCTCCTGTGTGCCGCTCGAAAGGAACCAGCGCTACATCTTTTTCCTGGAGCCCAC
GGAACAGCCCTTAGTCTTTAAGACGGCCTTTGCCCCCCTCGATACCAACGGCAAAAATCTCAAG
AAAGAGGTGGGCAAGATCCTGTGCACTGACTGCGCCACCCGGCCCAAGTTGAAGAAGATGAAGA
GCCAGACGGGACAGGTGGGTGAGAAGCAATCGCTGAAGTGTGAGGCAGCAGCCGGTAATCCCCA
GCCTTCCTACCGTTGGTTCAAGGATGGCAAGGAGCTCAACCGCAGCCGAGACATTCGCATCAAA
TATGGCAACGGCAGAAAGAACTCACGACTACAGTTCAACAAGGTGAAGGTGGAGGACGCTGGGG
AGTATGTCTGCGAGGCCGAGAACATCCTGGGGAAGGACACCGTCCGGGGCCGGCTTTACGTCAA
CAGCGTGAGCACCACCCTGTCATCCTGGTCGGGGCACGCCCGGAAGTGCAACGAGACAGCCAAG
TCCTATTGCGTCAATGGAGGCGTCTGCTACTACATCGAGGGCATCAACCAGCTCTCCTGCAAGT
GTCCTGTGGGATACACCGGGGACAGGTGTCAGCAGTTCGCAATGGTCAACTTCTCCAAGCACCT
TGGATTTGAATTAAAGGAAGCCGAGGAGCTGTACCAGAAGAGGGTCCTGACCATCACGGGCATC
TGCGTGGCTCTGCTGGTCGTGGGCATCGTCTGTGTGGTGGCCTACTGCAAGACCAAAAAACAGC
GGAAGCAGATGCACAACCACCTCCGGCAGAACATGTGCCCGGCCCATCAGAACCGGAGCTTGGC
CAATGGGCCCAGCCACCCCCGGCTGGACCCAGAGGAGATCCAGATGGCAGATTATATTTCCAAG
AACGTGCCAGCCACAGACCATGTCATCAGGAGAGAAACTGAGACCACCTTCTCTGGGAGCCACT
CCTGTTCTCCTTCTCACCACTGCTCCACAGCCACACCCACCTCCAGCCACAGACACGAGAGCCA
CACGTGGAGCCTGGAACGTTCTGAGAGCCTGACTTCTGACTCCCAGTCGGGGATCATGCTATCA
TCAGTGGGTACCAGCAAATGCAACAGCCCAGCATGTGTGGAGGCCCGGGCAAGGCGGGCAGCAG
CCTACAACCTGGAGGAGCGGCGCAGGGCCACCGCGCCACCCTATCACGATTCCGTGGACTCCCT
TCGCGACTCCCCACACAGCGAGAGGTACGTGTCGGCCCTGACCACGCCCGCGCGCCTCTCGCCC
GTGGACTTCCACTACTCGCTGGCCACGCAGGTGCCAACTTTCGAGATCACGTCCCCCAACTCGG
CGCACGCCGTGTCGCTGCCGCCGGCGGCGCCCATCAGTTACCGCCTGGCCGAGCAGCAGCCGTT
ACTGCGGCACCCGGCGCCCCCCGGCCCGGGACCCGGACCCGGGCCCGGGCCCGGGCCCGGCGCA
GACATGCAGCGCAGCTATGACAGCTACTATTACCCCGCGGCGGGGCCCGGACCGCGGCGCGGGA
CCTGCGCGCTCGGCGGCAGCCTGGGCAGCCTGCCTGCCAGCCCCTTCCGCATCCCCGAGGACGA
CGAGTACGAGACCACGCAGGAGTGCGCGCCCCCGCCGCCGCCGCGGCCGCGCGCGCGCGGTGCG
TCCCGCAGGACGTCGGCGGGGCCCCGGCGCTGGCGCCGCTCGCGCCTCAACGGGCTGGCGGCGC
AGCGCGCACGGGCGGCGAGGGACTCGCTGTCGCTGAGCAGCGGCTCGGGCGGCGGCTCAGCCTC
GGCGTCGGACGACGACGCGGACGACGCGGACGGGGCGCTGGCGGCCGAGAGCACACCTTTCCTG
GGCCTGCGTGGGGCGCACGACGCGCTGCGCTCGGACTCGCCGCCACTGTGCCCGGCGGCCGACA
GCAGGACTTACTACTCACTGGACAGCCACAGCACGCGGGCCAGCAGCAGACACAGCCGCGGGCC
GCCCCCGCGGGCCAAGCAGGACTCGGCGCCACTCTAGGGCCCCGCCGCGCGCCCCTCCGCCCCG
CCCGCCCCACTATCTTTAAGGAGACCAGAGACCGCCTACTGGAGAGAAAGGAGGAAAAAAGAAA
TAAAAATATTTTTATTTTCTATAAAAGGAAAAAAGTATAACAAAATGTTTTATTTTCATTTTAG
CAAAAATTGTCTTATAATACTAGCTAACGGCAAAGGCGTTTTTATAGGGAAACTATTTATATGT
AACATCCTGATTTACAGCTTCGGAAAAAAAAAAGAAACAACAAAAAAAAAAGAGAGATGGGCCA
ATTTTTTGACTCTTTAATAGAAACCTATTTTGTGGTGCCTTTTGCTGTATGCTCATCTGGGGCT
CCGGGGGACAGGTCTGGGTTGTGGGGTGCTGAGAGTGACAGCTGGGAGAGAAGAGGTGCGGGTT
CTGTTGGGGGCGAGGGTGGGGGGCGGTGGGGGGTTGGCCCTAAGGAAGAACTGAGGACGGAAGT
AGCTTTGCTCCCAGGCAAGAGCTGAAGTTCCCGACCCCTGGGAGGAGAGGGCCAGGACCCTAGG
CTTGGAGCTGGAGCTGGGGTAACTTCCAGGGGGAGATAAAGACACAGCTACCCGAATGGGGAAG
CCCTGGCTACTCACAGCTGTTAAAGGAGGGGGGGCAGAGAAACGTTTCCCCAAGAGCCTGAGCC
CAGGGAGGTGGCAGCTCTGCCAGGGGCCCAATGTTGGCGGCTCCTGTCCCCCACAGCCTCCAGG
ACGCCCCTCCGTCCTCTGCAGCACCTTCGTTTACAGGTCGTCTTTTCTATTTTACACCTGCATG
TCCTTTGCATTTCAGATTCTTTAGATTGGATGCATGGTCACGCTGGGACCGAGAAGAGCCACTC
GACAGTGTATTCCCCTTTTAGCAATAAAGTAACACCATTTCCTTCTCACAGGCTGCCTCCTAGC
CCCCAACCCACCTATGACATCCACTCGTCTCCAGTCCTGCCCTCCCACCCCCAAAAACTGGGTC
CACTGCTAATTTGTCAAAAAGGTAATTGTTTAAAAAAAAAAAAAATCCCAAACAGAAACAGATG
GGAATCCTGTCCTGAAATGTCTGAACACCTGACTGTTGACACTTGAACATTTTTATATTATAAA
TAAAATCAGAAATAACTCCTG

hide sequence

RefSeq Acc Id:

XM_005268533 ⟹ XP_005268590

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	5	139,846,781 - 139,865,625 (-)	NCBI

Sequence:

show sequence

GTGAGGCAGCAGCCGGTAATCCCCAGCCTTCCTACCGTTGGTTCAAGGATGGCAAGGAGCTCAA
CCGCAGCCGAGACATTCGCATCAAATATGGCAACGGCAGAAAGAACTCACGACTACAGTTCAAC
AAGGTGAAGGTGGAGGACGCTGGGGAGTATGTCTGCGAGGCCGAGAACATCCTGGGGAAGGACA
CCGTCCGGGGCCGGCTTTACGTCAACAGCGTGAGCACCACCCTGTCATCCTGGTCGGGGCACGC
CCGGAAGTGCAACGAGACAGCCAAGTCCTATTGCGTCAATGGAGGCGTCTGCTACTACATCGAG
GGCATCAACCAGCTCTCCTGCAAATGTCCAAATGGATTCTTCGGACAGAGATGTTTGGAGAAAC
TGCCTTTGCGATTGTACATGCCAGATCCTAAGCAAAGTGTCCTGTGGGATACACCGGGGACAGG
TGTCAGCAGTTCGCAATGGTCAACTTCTCCAAAGCCGAGGAGCTGTACCAGAAGAGGGTCCTGA
CCATCACGGGCATCTGCGTGGCTCTGCTGGTCGTGGGCATCGTCTGTGTGGTGGCCTACTGCAA
GACCAAAAAACAGCGGAAGCAGATGCACAACCACCTCCGGCAGAACATGTGCCCGGCCCATCAG
AACCGGAGCTTGGCCAATGGGCCCAGCCACCCCCGGCTGGACCCAGAGGAGATCCAGATGGCAG
ATTATATTTCCAAGAACGTGCCAGCCACAGACCATGTCATCAGGAGAGAAACTGAGACCACCTT
CTCTGGGAGCCACTCCTGTTCTCCTTCTCACCACTGCTCCACAGCCACACCCACCTCCAGCCAC
AGACACGAGAGCCACACGTGGAGCCTGGAACGTTCTGAGAGCCTGACTTCTGACTCCCAGTCGG
GGATCATGCTATCATCAGTGGGTACCAGCAAATGCAACAGCCCAGCATGTGTGGAGGCCCGGGC
AAGGCGGGCAGCAGCCTACAACCTGGAGGAGCGGCGCAGGGCCACCGCGCCACCCTATCACGAT
TCCGTGGACTCCCTTCGCGACTCCCCACACAGCGAGAGGTACGTGTCGGCCCTGACCACGCCCG
CGCGCCTCTCGCCCGTGGACTTCCACTACTCGCTGGCCACGCAGGTGCCAACTTTCGAGATCAC
GTCCCCCAACTCGGCGCACGCCGTGTCGCTGCCGCCGGCGGCGCCCATCAGTTACCGCCTGGCC
GAGCAGCAGCCGTTACTGCGGCACCCGGCGCCCCCCGGCCCGGGACCCGGACCCGGGCCCGGGC
CCGGGCCCGGCGCAGACATGCAGCGCAGCTATGACAGCTACTATTACCCCGCGGCGGGGCCCGG
ACCGCGGCGCGGGACCTGCGCGCTCGGCGGCAGCCTGGGCAGCCTGCCTGCCAGCCCCTTCCGC
ATCCCCGAGGACGACGAGTACGAGACCACGCAGGAGTGCGCGCCCCCGCCGCCGCCGCGGCCGC
GCGCGCGCGGTGCGTCCCGCAGGACGTCGGCGGGGCCCCGGCGCTGGCGCCGCTCGCGCCTCAA
CGGGCTGGCGGCGCAGCGCGCACGGGCGGCGAGGGACTCGCTGTCGCTGAGCAGCGGCTCGGGC
GGCGGCTCAGCCTCGGCGTCGGACGACGACGCGGACGACGCGGACGGGGCGCTGGCGGCCGAGA
GCACACCTTTCCTGGGCCTGCGTGGGGCGCACGACGCGCTGCGCTCGGACTCGCCGCCACTGTG
CCCGGCGGCCGACAGCAGGACTTACTACTCACTGGACAGCCACAGCACGCGGGCCAGCAGCAGA
CACAGCCGCGGGCCGCCCCCGCGGGCCAAGCAGGACTCGGCGCCACTCTAGGGCCCCGCCGCGC
GCCCCTCCGCCCCGCCCGCCCCACTATCTTTAAGGAGACCAGAGACCGCCTACTGGAGAGAAAG
GAGGAAAAAAGAAATAAAAATATTTTTATTTTCTATAAAAGGAAAAAAGTATAACAAAATGTTT
TATTTTCATTTTAGCAAAAATTGTCTTATAATACTAGCTAACGGCAAAGGCGTTTTTATAGGGA
AACTATTTATATGTAACATCCTGATTTACAGCTTCGGAAAAAAAAAAGAAACAACAAAAAAAAA
AGAGAGATGGGCCAATTTTTTGACTCTTTAATAGAAACCTATTTTGTGGTGCCTTTTGCTGTAT
GCTCATCTGGGGCTCCGGGGGACAGGTCTGGGTTGTGGGGTGCTGAGAGTGACAGCTGGGAGAG
AAGAGGTGCGGGTTCTGTTGGGGGCGAGGGTGGGGGGCGGTGGGGGGTTGGCCCTAAGGAAGAA
CTGAGGACGGAAGTAGCTTTGCTCCCAGGCAAGAGCTGAAGTTCCCGACCCCTGGGAGGAGAGG
GCCAGGACCCTAGGCTTGGAGCTGGAGCTGGGGTAACTTCCAGGGGGAGATAAAGACACAGCTA
CCCGAATGGGGAAGCCCTGGCTACTCACAGCTGTTAAAGGAGGGGGGGCAGAGAAACGTTTCCC
CAAGAGCCTGAGCCCAGGGAGGTGGCAGCTCTGCCAGGGGCCCAATGTTGGCGGCTCCTGTCCC
CCACAGCCTCCAGGACGCCCCTCCGTCCTCTGCAGCACCTTCGTTTACAGGTCGTCTTTTCTAT
TTTACACCTGCATGTCCTTTGCATTTCAGATTCTTTAGATTGGATGCATGGTCACGCTGGGACC
GAGAAGAGCCACTCGACAGTGTATTCCCCTTTTAGCAATAAAGTAACACCATTTCCTTCTCACA
GGCTGCCTCCTAGCCCCCAACCCACCTATGACATCCACTCGTCTCCAGTCCTGCCCTCCCACCC
CCAAAAACTGGGTCCACTGCTAATTTGTCAAAAAGGTAATTGTTTAAAAAAAAAAAAAA

hide sequence

RefSeq Acc Id:

XM_006714810 ⟹ XP_006714873

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	5	139,855,676 - 140,043,299 (-)	NCBI

Sequence:

show sequence

CCTAGGAAAGAGGACAGCCCAAGAGGCGAGAGGCTGGCCGGCCACCCTGGCCATGGCAACCTCT
CTGGCTCCTACAGCTGCTGGCCAAAGGCAGGGGGCACGCCCTGCGTCCCATTACCACGTTCATA
GGATGGTGCCAGGAGCCCGTTATCTCTTCTTCGCCTTCTCCTCACGCACCACCCCCACTGTCAT
GCCGATAAATCCCGGGAGCAAAGGGTGGCACGATTCCTCCCGCGCCCCTGCGGGCTGAAGGCGG
GCACTAAAGCAGTGCAGTCCCAAGCTTCCCCTGCAGAAGCCGCGCTCCCTACTCGGTCCGGGGG
CAGAGGGGGCGCGAGAGAGCAAGTGGGCGGGCGTCCCATCCTCCGCATCCTCCTCCAGGTCCTG
GCGCACAGGGTGGGAGCGCTGCGCTGCGCCGCGCTGCGCATCGCGGCCCGCTTGCCGCCTGCCC
CCTGCCCTAGCTGGGCCACCTCCCCGGGCTGCCGGTGGAGGGCTAAGAGGCGCTAACGTTACGC
TGTTTCCGGTTTTCCAGCGGGCTCTGTTTCCCCTCCCAAGGCGGCGGCGGCTGAGCGGCGGAGC
CCCCCAAATGGCCTGGCCAGATGCGGCAGGTTTGCTGCTCAGCGCTGCCGCCGCCGCCACTGGA
GAAGGGTCGGTGCAGCAGCTACAGCGACAGCAGCAGCAGCAGCAGCGAGAGGAGCAGCAGCAGC
AGCAGCAGCAGCAGCGAGAGCGGCAGCAGCAGCAGGAGCAGCAGCAACAACAGCAGCATCTCTC
GTCCCGCTGCGCCCCCAGAGCCGCGGCCGCAGCAACAGCCGCAGCCCCGCAGCCCCGCAGCCCG
GAGAGCCGCCGCCCGTTCGCGAGCCGCAGCCGCCGGCGGCATGAGGCGCGACCCGGCCCCCGGC
TTCTCCATGCTGCTCTTCGGTGTGTCGCTCGCCTGCTACTCGCCCAGCCTCAAGTCAGTGCAGG
ACCAGGCGTACAAGGCACCCGTGGTGGTGGAGGGCAAGGTACAGGGGCTGGTCCCAGCCGGCGG
CTCCAGCTCCAACAGCACCCGAGAGCCGCCCGCCTCGGGTCGGGTGGCGTTGGTAAAGGTGCTG
GACAAGTGGCCGCTCCGGAGCGGGGGGCTGCAGCGCGAGCAGGTGATCAGCGTGGGCTCCTGTG
TGCCGCTCGAAAGGAACCAGCGCTACATCTTTTTCCTGGAGCCCACGGAACAGCCCTTAGTCTT
TAAGACGGCCTTTGCCCCCCTCGATACCAACGGCAAAAATCTCAAGAAAGAGGTGGGCAAGATC
CTGTGCACTGACTGCGCCACCCGGCCCAAGTTGAAGAAGATGAAGAGCCAGACGGGACAGGTGG
GTGAGAAGCAATCGCTGAAGTGTGAGGCAGCAGCCGGTAATCCCCAGCCTTCCTACCGTTGGTT
CAAGGATGGCAAGGAGCTCAACCGCAGCCGAGACATTCGCATCAAATATGGCAACGGCAGAAAG
AACTCACGACTACAGTTCAACAAGGTGAAGGTGGAGGACGCTGGGGAGTATGTCTGCGAGGCCG
AGAACATCCTGGGGAAGGACACCGTCCGGGGCCGGCTTTACGTCAACAGCGTGAGCACCACCCT
GTCATCCTGGTCGGGGCACGCCCGGAAGTGCAACGAGACAGCCAAGTCCTATTGCGTCAATGGA
GGCGTCTGCTACTACATCGAGGGCATCAACCAGCTCTCCTGCAAATGTCCAAATGGATTCTTCG
GACAGAGATGTTTGGAGAAACTGCCTTTGCGATTGTACATGCCAGATCCTAAGCAAAGTGTCCT
GTGGGATACACCGGGGACAGGTGTCAGCAGTTCGCAATGGTCAACTTCTCCAAGCACCTTGGAT
TTGAATTAAAGGAAGCCGAGGAGCTGTACCAGAAGAGGGTCCTGA

hide sequence

RefSeq Acc Id:

XM_011537713 ⟹ XP_011536015

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	5	139,869,394 - 140,043,299 (-)	NCBI

Sequence:

show sequence

CCAGGGTCCTCCTAGGAAAGAGGACAGCCCAAGAGGCGAGAGGCTGGCCGGCCACCCTGGCCAT
GGCAACCTCTCTGGCTCCTACAGCTGCTGGCCAAAGGCAGGGGGCACGCCCTGCGTCCCATTAC
CACGTTCATAGGATGGTGCCAGGAGCCCGTTATCTCTTCTTCGCCTTCTCCTCACGCACCACCC
CCACTGTCATGCCGATAAATCCCGGGAGCAAAGGGTGGCACGATTCCTCCCGCGCCCCTGCGGG
CTGAAGGCGGGCACTAAAGCAGTGCAGTCCCAAGCTTCCCCTGCAGAAGCCGCGCTCCCTACTC
GGTCCGGGGGCAGAGGGGGCGCGAGAGAGCAAGTGGGCGGGCGTCCCATCCTCCGCATCCTCCT
CCAGGTCCTGGCGCACAGGGTGGGAGCGCTGCGCTGCGCCGCGCTGCGCATCGCGGCCCGCTTG
CCGCCTGCCCCCTGCCCTAGCTGGGCCACCTCCCCGGGCTGCCGGTGGAGGGCTAAGAGGCGCT
AACGTTACGCTGTTTCCGGTTTTCCAGCGGGCTCTGTTTCCCCTCCCAAGGCGGCGGCGGCTGA
GCGGCGGAGCCCCCCAAATGGCCTGGCCAGATGCGGCAGGTTTGCTGCTCAGCGCTGCCGCCGC
CGCCACTGGAGAAGGGTCGGTGCAGCAGCTACAGCGACAGCAGCAGCAGCAGCAGCGAGAGGAG
CAGCAGCAGCAGCAGCAGCAGCAGCGAGAGCGGCAGCAGCAGCAGGAGCAGCAGCAACAACAGC
AGCATCTCTCGTCCCGCTGCGCCCCCAGAGCCGCGGCCGCAGCAACAGCCGCAGCCCCGCAGCC
CCGCAGCCCGGAGAGCCGCCGCCCGTTCGCGAGCCGCAGCCGCCGGCGGCATGAGGCGCGACCC
GGCCCCCGGCTTCTCCATGCTGCTCTTCGGTGTGTCGCTCGCCTGCTACTCGCCCAGCCTCAAG
TCAGTGCAGGACCAGGCGTACAAGGCACCCGTGGTGGTGGAGGGCAAGGTACAGGGGCTGGTCC
CAGCCGGCGGCTCCAGCTCCAACAGCACCCGAGAGCCGCCCGCCTCGGGTCGGGTGGCGTTGGT
AAAGGTGCTGGACAAGTGGCCGCTCCGGAGCGGGGGGCTGCAGCGCGAGCAGGTGATCAGCGTG
GGCTCCTGTGTGCCGCTCGAAAGGAACCAGCGCTACATCTTTTTCCTGGAGCCCACGGAACAGC
CCTTAGTCTTTAAGACGGCCTTTGCCCCCCTCGATACCAACGGCAAAAATCTCAAGAAAGAGGT
GGGCAAGATCCTGTGCACTGACTGCGCCACCCGGCCCAAGTTGAAGAAGATGAAGAGCCAGACG
GGACAGGTGGGTGAGAAGCAATCGCTGAAGTGTGAGGCAGCAGCCGGTAATCCCCAGCCTTCCT
ACCGTTGGTTCAAGGATGGCAAGGAGCTCAACCGCAGCCGAGACATTCGCATCAAATATGGCAA
CGGCAGAAAGAACTCACGACTACAGTTCAACAAGGTGAAGGTGGAGGACGCTGGGGAGTATGTC
TGCGAGGCCGAGAACATCCTGGGGAAGGACACCGTCCGGGGCCGGCTTTACGTCAACAGCGTGA
GCACCACCCTGTCATCCTGGTCGGGGCACGCCCGGAAGTGCAACGAGACAGCCAAGTCCTATTG
CGTCAATGGAGGCGTCTGCTACTACATCGAGGGCATCAACCAGCTCTCCTGCAAGGCACCTGGG
CTGCACTGCTTAGAACTTGGTACCCAGAGCCACCACTTCCCCATCTCAGCCTCCCCTGGTTCCA
GCCAAGGTTCCTGGAACCAACTTCCCCAACACCCTTTGTCAGCCCTCGGGGGAGAGGGCAGCCC
TGGTGGAGATGCGGTCAGAACACCAGGTCCTCAGAGCTGTGCTGGAGAAGGGCAGGGGGGTGGG
GGGCAGGGCAGAGCCCAGAGGCCATTCTGCGGGTGGACGAGCTGGGAGGGAAGGTGGGCAGGCC
TCTTGGGGTTCCTGATGACACCTGAATGGAATAAAAAGGAAAGAACTTAGGAAACGGAACTCAC
GTCTTACCATTTGTGCTGTTTGTTTACTTTTTATTTTGATTTTTTTGCATTTCCGCTTAGCTTG
GATAATGAAACTACACTGGTCAGTTTCATTCCAGTTTCTATAAAAATCAGTTTTCCTTCCTGGT
TTTCTTACACTTGTTGTTGTGTATTGGTTCAGAGCCCTGCAGGGAGTGTTGGAAAGCAGGCACA
CTCCGTCCCTCCTGTTTTTCTGGAATTCAGTGCCAAAAGAAACAGTGTCACTGATACTGAATTT
TGTTTTAAAAAAAGACAACGTAGGGGGATTTGAAAATGGGAGTCCAAATCAAGGTGACTGTCCC
CTGTCTGGGCCAGACAGGGGCCTCTGCACTCCCTCTTGCTGCTTTCTCCTCTTCTCTCCGTGTG
TTTGTAGAGCACGGTTGGTGCGTGACTCTTGGGGACTGGTTCAGGGGATGATGACAGAACAAGA
CTCTTTCCAGCCCTGTGCACATACCAGTGGCATGCCTCCCCTTCCCATCAGCTCATCCCCCTCA
TCCCTCTGCCCCTACCCCACCCATGTCCAGGTGATTCCCCATCCCACCTCCATCTGCCTGCTCA
TCCTCGCCACATCTTCACCCCTCTCATGAACTCAGAGGCCCTTCACTCCCTCCAGTGCCCGGGG
CACACCGCCATCCTTCATCCACCCCCTCCCCCGGGTGAGGGCAGCACACATGGCATTATCCCCA
GGCTACCAAAAGGAGAAACTGAGGCCCGGGAGGTGGGGTGGGAAAAGGGGAAGGCAGAGGTCCT
GACCTCTCTGTCACCCCAGATGCAGCCCGTGGGCTCTCCTCTCTGCCCCTCTCTCACCCTGCTC
TTCTCCAGCCCTGGGGACAGACCTTCCCCAGAGTCATAACTGATGACCTGGTGGGAAAGGCTGG
GAAGGCTGTTACCCGCTGCTCCTTCTAATCTGTCCTCTGTGCCCCCTGAAAATCAGAGGGTCAA
TCCCAGTTTCAGTGGAAACCACCAACCACCACCCAGCCCCCAATGCTGAGTTCAGACTCCCAAC
CTGGTTGATAGGCTAATGTACCCCATACTCTCTTACCCTGGTATTAGGTGCAGGTTAGAGAGGC
TATAGGCCCAGCTCACCCCCAAAGCCTTCTCTAGGGAAGCCCCAGTCTCCTGAATGTGACTCAT
CCTCAGCAAACAGGACTAAGGAGAGACATAGGAGTGTCCAGGAGGTCCCTGAAGGAGCTAGCAC
CCCAAAGAACAGCAGTAGCTGTCAGCCTTCCACCACCCCCACTGTGCCCCTCCCCAGTGCCTTT
TGTTTTGTTCAGCCAGCGGGGAGCACATTTTCTCAAGGAAGGAAGGTTAGGACCATAATGTTGT
GCAACTCAGCGGCCATGAAAGATGTAAGTCTGTAGTCAGGATAGTCCAGGCTGGGTGTGAGATA
AGGGCCACAGGGATGTATGGAGTTATCATTGTTATCATTGTTCTCCAAGGGTCTTGGGACAGCA
GCCCTGCTTGTCAGCAATGGAAATAAATTTCCCCTTGCCCCTCCTGCCCCTGTACTCCCCCATT
TTCTCTCTCTCTCTGTCACACACACACACACACACACACACACACACACACTCATACACACACA
CACACACACACACACACACACACACAGGTTTCCCTTCCTCCAAGAGCTGGGCTGATCTCAGACA
TTGGACACAGACACATCTGTCTCTTTCTTGTTCCTTTGTGGAATCCAAGAGTCATTTGGCAACT
TCCTGGGTCTTCATCCTCCACTCCCAAAGGCACTTATGTTTGAAAATCACTTCTCCCTCTCTAG
TCCCCATCACAAGTGGACATCAGTTTCCAAGAGCTAAGGAAGAAGAGCTTGAGCTGGTTGGGAA
GCCTTAGCCACTACCTCCATTTACCTGAGCTGGGATGAATAGGGACGAGGGCCAGGGATCAGAG
AAGGATGTGTTGACAAGGGGGCTGATGGCAGTCTCCTCCTCCAAACCACCCTGTTCAGTAAGAC
GACCATGTACCCTCTTCCCACCCATGCCACTTCCCTGATACACTTCCCAGCCCTCCACCACCCC
CCAATTAGCCAGGCATACCCACACACACACTCCTACCACTACAGGACAAACCTCCTGCCTCCCC
TGGGGGAGATGCCATCAAGGCCCAGAGAAACTCTAGCCCTCTGCTCAACTACCACTCCCATTCC
CCACTCCTCCAGATTTGAGGTCACAGGGTGTTCATGAGTATCTGTCACAACCAATGGCTGCCAC
TTACTGTAAGCCTAAGTGGCTTCCTGACAGTTGCTATATACTGCAATGCTAAGAAATAGAGTAC
ACTTGCCTCTTGAGGAAGTTTACATTGATTAATTTTGAACAGTAGCCTATTATTGAGGGGGACA
CTGGTGATGAACTTAGCTAATTTCCTAAGGAAGAAGATGCAGAGGCAATATAGACCCATCTCTG
AGTAGGGAGATGTGGGGAAGGGGTCTAGCCCTCCCTGTAAGCTTCTCCTTAGGTATCCAGCCTT
GCCGGGGTTCAGAAGAGAGTACAGGGCTGGGCATGTCCTCCAGAAATTTGCAAGACTTCTGCAA
GAAATCTGAGATTCGCTTGAGGAGAGGGCTGGCAGCCAGAGAGCAGAAGAACGTGTACCCTGTG
GGTAGAGACAAGGTCAGGGAGATTGAGTGGGGGGTGCTTTAGAGCTGTAAGCAAGGCAAGATCA
GAGAATGAGATCCAGGGCAGGTCCAGGCAGTGATGGAGAAACAGGTCATGGGGAAATGGAAGAG
TTTCGCAGGCTGGCTGCCACTAGGACCTTGATGTGGACCAGGCTTCCAGGGTCCCCCAGCGAGC
CTGCTCCAATCCCTTTTGTGGTCCTTGCTACCTGAGGCCAGATTCCCTGCACCTGGTATCAGGA
AGGCCCACTTTGGGATGCTGATAATTCCAGCTCCTCTCCAACTTCCCATTTCCCTACTAAGCTT
TTCCCATGTACATCACACTGGGGCAGCCTATTCCAAACCATGTTCTACCACAAGGGTTCCTCAA
AAAACAACATCCATGGTGAAGTAAATTTGAAACACAAATAAATTTGAGAACTTACATGGAAAGT
TCAGCTATTTCCTCCTATGAAACTTTCATAGTCTTTCATAGGTGAAGGTACACTGCAACTCTAC
AAGGCACCCTGAGAATGTATTTCCTACATTGATTTGGCCACAGAACCCTCTTTGAAAGAACAGA
TAAAACATCTCTTAGGTCACTTTTGTCAAAGACATACACAGTCTGGGAACAGCATTCCCGAGTT
ATCTGAGTTTCCTGGGGGCTGTTTCTTGGATGAGAAAACCTGCCCAGGGCCCAGGAGAGAATCC
TTCAGTCGGTCCTGGGAGGAGTAGCTCCCAAGAACTTGGTATTCCTTAAGGCTCCCAGATCCCT
GCCAGCTGACTGACTGCCTGGCACCAAGAGGCCACAGTGCTTGCTTCATGGGGCACCAGGCAGG
TAAGAAGGAAAGTCTCAATGACCAGTAGGACAATTTCCCATCTTCCCTCACCCCACTTACCTAA
ATCATCCTCCCCCTGACCCACCCCACCTTCCCCACCACCCATGGAGCCACATCTATGAGACAGA
TTTTTAAGGAGATTTCAGAGCCCTCCACCCAGCCCTGACTCCAGTCCCTTCAGCTACAAGTATG
ACCCCAAGTGCCTGACTTGGTTTTTCTCATTCATCACTGTGCACTTTGATTTCTAACCTTAGCC
TCGCGGATGATGCCAGTTTGTTCTGTGATTTTTCCCCTTTTCCTT

hide sequence

RefSeq Acc Id:

XM_047417897 ⟹ XP_047273853

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	5	139,846,781 - 139,865,625 (-)	NCBI

RefSeq Acc Id:

XM_054353829 ⟹ XP_054209804

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	5	140,390,734 - 140,568,402 (-)	NCBI

RefSeq Acc Id:

XM_054353830 ⟹ XP_054209805

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	5	140,371,883 - 140,390,727 (-)	NCBI

RefSeq Acc Id:

XM_054353831 ⟹ XP_054209806

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	5	140,371,883 - 140,390,727 (-)	NCBI

RefSeq Acc Id:

XM_054353832 ⟹ XP_054209807

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	5	140,380,778 - 140,568,402 (-)	NCBI

Protein Sequences


Protein RefSeqs	NP_001171864	(Get FASTA)	NCBI Sequence Viewer
	NP_001397709	(Get FASTA)	NCBI Sequence Viewer
	NP_004874	(Get FASTA)	NCBI Sequence Viewer
	NP_053584	(Get FASTA)	NCBI Sequence Viewer
	NP_053585	(Get FASTA)	NCBI Sequence Viewer
	NP_053586	(Get FASTA)	NCBI Sequence Viewer
	XP_005268590	(Get FASTA)	NCBI Sequence Viewer
	XP_006714873	(Get FASTA)	NCBI Sequence Viewer
	XP_011536015	(Get FASTA)	NCBI Sequence Viewer
	XP_047273853	(Get FASTA)	NCBI Sequence Viewer
	XP_054209804	(Get FASTA)	NCBI Sequence Viewer
	XP_054209805	(Get FASTA)	NCBI Sequence Viewer
	XP_054209806	(Get FASTA)	NCBI Sequence Viewer
	XP_054209807	(Get FASTA)	NCBI Sequence Viewer
GenBank Protein	AAF28848	(Get FASTA)	NCBI Sequence Viewer
	AAF28849	(Get FASTA)	NCBI Sequence Viewer
	AAF28850	(Get FASTA)	NCBI Sequence Viewer
	AAF28851	(Get FASTA)	NCBI Sequence Viewer
	AAF28852	(Get FASTA)	NCBI Sequence Viewer
	AAF28853	(Get FASTA)	NCBI Sequence Viewer
	AAI03984	(Get FASTA)	NCBI Sequence Viewer
	AAI03985	(Get FASTA)	NCBI Sequence Viewer
	AAI14334	(Get FASTA)	NCBI Sequence Viewer
	AAI14335	(Get FASTA)	NCBI Sequence Viewer
	BAA23417	(Get FASTA)	NCBI Sequence Viewer
	BAG54044	(Get FASTA)	NCBI Sequence Viewer
	EAW62078	(Get FASTA)	NCBI Sequence Viewer
	EAW62080	(Get FASTA)	NCBI Sequence Viewer
	EAW62081	(Get FASTA)	NCBI Sequence Viewer
	EAW62082	(Get FASTA)	NCBI Sequence Viewer
	EAW62083	(Get FASTA)	NCBI Sequence Viewer
	EAW62084	(Get FASTA)	NCBI Sequence Viewer
	EAW62085	(Get FASTA)	NCBI Sequence Viewer
	EAW62086	(Get FASTA)	NCBI Sequence Viewer
	EAW62087	(Get FASTA)	NCBI Sequence Viewer
Ensembl Protein	ENSP00000289409
	ENSP00000289409.4
	ENSP00000289422
	ENSP00000289422.7
	ENSP00000342660
	ENSP00000342660.3
	ENSP00000351323
	ENSP00000351323.3
	ENSP00000354910
	ENSP00000354910.1
	ENSP00000367483
	ENSP00000367483.4
	ENSP00000444235
	ENSP00000444235.1
GenBank Protein	O14511	(Get FASTA)	NCBI Sequence Viewer

RefSeq Acc Id:	NP_001171864 ⟸ NM_001184935
- Peptide Label:	isoform 7
- UniProtKB:	F5GZS7 (UniProtKB/TrEMBL)
- Sequence:	show sequence MRQVCCSALPPPPLEKGRCSSYSDSSSSSSERSSSSSSSSSESGSSSRSSSNNSSISRPAAPPE PRPQQQPQPRSPAARRAAARSRAAAAGGMRRDPAPGFSMLLFGVSLACYSPSLKSVQDQAYKAP VVVEGKVQGLVPAGGSSSNSTREPPASGRVALVKVLDKWPLRSGGLQREQVISVGSCVPLERNQ RYIFFLEPTEQPLVFKTAFAPLDTNGKNLKKEVGKILCTDCATRPKLKKMKSQTGQVGEKQSLK CEAAAGNPQPSYRWFKDGKELNRSRDIRIKYGNGRKNSRLQFNKVKVEDAGEYVCEAENILGKD TVRGRLYVNSEAEELYQKRVLTITGICVALLVVGIVCVVAYCKTKKQRKQMHNHLRQNMCPAHQ NRSLANGPSHPRLDPEEIQMADYISKNVPATDHVIRRETETTFSGSHSCSPSHHCSTATPTSSH RHESHTWSLERSESLTSDSQSGIMLSSVGTSKCNSPACVEARARRAAAYNLEERRRATAPPYHD SVDSLRDSPHSERYVSALTTPARLSPVDFHYSLATQVPTFEITSPNSAHAVSLPPAAPISYRLA EQQPLLRHPAPPGPGPGPGPGPGPGADMQRSYDSYYYPAAGPGPRRGTCALGGSLGSLPASPFR IPEDDEYETTQECAPPPPPRPRARGASRRTSAGPRRWRRSRLNGLAAQRARAARDSLSLSSGSG GGSASASDDDADDADGALAAESTPFLGLRGAHDALRSDSPPLCPAADSRTYYSLDSHSTRASSR HSRGPPPRAKQDSAPL hide sequence

RefSeq Acc Id:	NP_053584 ⟸ NM_013981
- Peptide Label:	isoform 2
- UniProtKB:	O14511 (UniProtKB/Swiss-Prot)
- Sequence:	show sequence MRQVCCSALPPPPLEKGRCSSYSDSSSSSSERSSSSSSSSSESGSSSRSSSNNSSISRPAAPPE PRPQQQPQPRSPAARRAAARSRAAAAGGMRRDPAPGFSMLLFGVSLACYSPSLKSVQDQAYKAP VVVEGKVQGLVPAGGSSSNSTREPPASGRVALVKVLDKWPLRSGGLQREQVISVGSCVPLERNQ RYIFFLEPTEQPLVFKTAFAPLDTNGKNLKKEVGKILCTDCATRPKLKKMKSQTGQVGEKQSLK CEAAAGNPQPSYRWFKDGKELNRSRDIRIKYGNGRKNSRLQFNKVKVEDAGEYVCEAENILGKD TVRGRLYVNSVSTTLSSWSGHARKCNETAKSYCVNGGVCYYIEGINQLSCKCPVGYTGDRCQQF AMVNFSKAEELYQKRVLTITGICVALLVVGIVCVVAYCKTKKQRKQMHNHLRQNMCPAHQNRSL ANGPSHPRLDPEEIQMADYISKNVPATDHVIRRETETTFSGSHSCSPSHHCSTATPTSSHRHES HTWSLERSESLTSDSQSGIMLSSVGTSKCNSPACVEARARRAAAYNLEERRRATAPPYHDSVDS LRDSPHSERYVSALTTPARLSPVDFHYSLATQVPTFEITSPNSAHAVSLPPAAPISYRLAEQQP LLRHPAPPGPGPGPGPGPGPGADMQRSYDSYYYPAAGPGPRRGTCALGGSLGSLPASPFRIPED DEYETTQECAPPPPPRPRARGASRRTSAGPRRWRRSRLNGLAAQRARAARDSLSLSSGSGGGSA SASDDDADDADGALAAESTPFLGLRGAHDALRSDSPPLCPAADSRTYYSLDSHSTRASSRHSRG PPPRAKQDSAPL hide sequence

RefSeq Acc Id:	NP_053586 ⟸ NM_013983
- Peptide Label:	isoform 4
- UniProtKB:	O14511 (UniProtKB/Swiss-Prot)
- Sequence:	show sequence MRQVCCSALPPPPLEKGRCSSYSDSSSSSSERSSSSSSSSSESGSSSRSSSNNSSISRPAAPPE PRPQQQPQPRSPAARRAAARSRAAAAGGMRRDPAPGFSMLLFGVSLACYSPSLKSVQDQAYKAP VVVEGKVQGLVPAGGSSSNSTREPPASGRVALVKVLDKWPLRSGGLQREQVISVGSCVPLERNQ RYIFFLEPTEQPLVFKTAFAPLDTNGKNLKKEVGKILCTDCATRPKLKKMKSQTGQVGEKQSLK CEAAAGNPQPSYRWFKDGKELNRSRDIRIKYGNGRKNSRLQFNKVKVEDAGEYVCEAENILGKD TVRGRLYVNSVSTTLSSWSGHARKCNETAKSYCVNGGVCYYIEGINQLSCKCPVGYTGDRCQQF AMVNFSKHLGFELKEAEELYQKRVLTITGICVALLVVGIVCVVAYCKTKKQRKQMHNHLRQNMC PAHQNRSLANGPSHPRLDPEEIQMADYISKNVPATDHVIRRETETTFSGSHSCSPSHHCSTATP TSSHRHESHTWSLERSESLTSDSQSGIMLSSVGTSKCNSPACVEARARRAAAYNLEERRRATAP PYHDSVDSLRDSPHSERYVSALTTPARLSPVDFHYSLATQVPTFEITSPNSAHAVSLPPAAPIS YRLAEQQPLLRHPAPPGPGPGPGPGPGPGADMQRSYDSYYYPAAGPGPRRGTCALGGSLGSLPA SPFRIPEDDEYETTQECAPPPPPRPRARGASRRTSAGPRRWRRSRLNGLAAQRARAARDSLSLS SGSGGGSASASDDDADDADGALAAESTPFLGLRGAHDALRSDSPPLCPAADSRTYYSLDSHSTR ASSRHSRGPPPRAKQDSAPL hide sequence

RefSeq Acc Id:	NP_004874 ⟸ NM_004883
- Peptide Label:	isoform 1
- UniProtKB:	O14511 (UniProtKB/Swiss-Prot)
- Sequence:	show sequence MRQVCCSALPPPPLEKGRCSSYSDSSSSSSERSSSSSSSSSESGSSSRSSSNNSSISRPAAPPE PRPQQQPQPRSPAARRAAARSRAAAAGGMRRDPAPGFSMLLFGVSLACYSPSLKSVQDQAYKAP VVVEGKVQGLVPAGGSSSNSTREPPASGRVALVKVLDKWPLRSGGLQREQVISVGSCVPLERNQ RYIFFLEPTEQPLVFKTAFAPLDTNGKNLKKEVGKILCTDCATRPKLKKMKSQTGQVGEKQSLK CEAAAGNPQPSYRWFKDGKELNRSRDIRIKYGNGRKNSRLQFNKVKVEDAGEYVCEAENILGKD TVRGRLYVNSVSTTLSSWSGHARKCNETAKSYCVNGGVCYYIEGINQLSCKCPNGFFGQRCLEK LPLRLYMPDPKQKAEELYQKRVLTITGICVALLVVGIVCVVAYCKTKKQRKQMHNHLRQNMCPA HQNRSLANGPSHPRLDPEEIQMADYISKNVPATDHVIRRETETTFSGSHSCSPSHHCSTATPTS SHRHESHTWSLERSESLTSDSQSGIMLSSVGTSKCNSPACVEARARRAAAYNLEERRRATAPPY HDSVDSLRDSPHSERYVSALTTPARLSPVDFHYSLATQVPTFEITSPNSAHAVSLPPAAPISYR LAEQQPLLRHPAPPGPGPGPGPGPGPGADMQRSYDSYYYPAAGPGPRRGTCALGGSLGSLPASP FRIPEDDEYETTQECAPPPPPRPRARGASRRTSAGPRRWRRSRLNGLAAQRARAARDSLSLSSG SGGGSASASDDDADDADGALAAESTPFLGLRGAHDALRSDSPPLCPAADSRTYYSLDSHSTRAS SRHSRGPPPRAKQDSAPL hide sequence

RefSeq Acc Id:	NP_053585 ⟸ NM_013982
- Peptide Label:	isoform 3
- UniProtKB:	O14511 (UniProtKB/Swiss-Prot)
- Sequence:	show sequence MRQVCCSALPPPPLEKGRCSSYSDSSSSSSERSSSSSSSSSESGSSSRSSSNNSSISRPAAPPE PRPQQQPQPRSPAARRAAARSRAAAAGGMRRDPAPGFSMLLFGVSLACYSPSLKSVQDQAYKAP VVVEGKVQGLVPAGGSSSNSTREPPASGRVALVKVLDKWPLRSGGLQREQVISVGSCVPLERNQ RYIFFLEPTEQPLVFKTAFAPLDTNGKNLKKEVGKILCTDCATRPKLKKMKSQTGQVGEKQSLK CEAAAGNPQPSYRWFKDGKELNRSRDIRIKYGNGRKNSRLQFNKVKVEDAGEYVCEAENILGKD TVRGRLYVNSVSTTLSSWSGHARKCNETAKSYCVNGGVCYYIEGINQLSCKCPNGFFGQRCLEK LPLRLYMPDPKQKHLGFELKEAEELYQKRVLTITGICVALLVVGIVCVVAYCKTKKQRKQMHNH LRQNMCPAHQNRSLANGPSHPRLDPEEIQMADYISKNVPATDHVIRRETETTFSGSHSCSPSHH CSTATPTSSHRHESHTWSLERSESLTSDSQSGIMLSSVGTSKCNSPACVEARARRAAAYNLEER RRATAPPYHDSVDSLRDSPHSERYVSALTTPARLSPVDFHYSLATQVPTFEITSPNSAHAVSLP PAAPISYRLAEQQPLLRHPAPPGPGPGPGPGPGPGADMQRSYDSYYYPAAGPGPRRGTCALGGS LGSLPASPFRIPEDDEYETTQECAPPPPPRPRARGASRRTSAGPRRWRRSRLNGLAAQRARAAR DSLSLSSGSGGGSASASDDDADDADGALAAESTPFLGLRGAHDALRSDSPPLCPAADSRTYYSL DSHSTRASSRHSRGPPPRAKQDSAPL hide sequence

RefSeq Acc Id:

XP_005268590 ⟸ XM_005268533

- Peptide Label:

isoform X3

- Sequence:

show sequence

MVNFSKAEELYQKRVLTITGICVALLVVGIVCVVAYCKTKKQRKQMHNHLRQNMCPAHQNRSLA
NGPSHPRLDPEEIQMADYISKNVPATDHVIRRETETTFSGSHSCSPSHHCSTATPTSSHRHESH
TWSLERSESLTSDSQSGIMLSSVGTSKCNSPACVEARARRAAAYNLEERRRATAPPYHDSVDSL
RDSPHSERYVSALTTPARLSPVDFHYSLATQVPTFEITSPNSAHAVSLPPAAPISYRLAEQQPL
LRHPAPPGPGPGPGPGPGPGADMQRSYDSYYYPAAGPGPRRGTCALGGSLGSLPASPFRIPEDD
EYETTQECAPPPPPRPRARGASRRTSAGPRRWRRSRLNGLAAQRARAARDSLSLSSGSGGGSAS
ASDDDADDADGALAAESTPFLGLRGAHDALRSDSPPLCPAADSRTYYSLDSHSTRASSRHSRGP
PPRAKQDSAPL

hide sequence

RefSeq Acc Id:	XP_006714873 ⟸ XM_006714810
- Peptide Label:	isoform X4
- UniProtKB:	O14511 (UniProtKB/Swiss-Prot)
- Sequence:	show sequence MRQVCCSALPPPPLEKGRCSSYSDSSSSSSERSSSSSSSSSESGSSSRSSSNNSSISRPAAPPE PRPQQQPQPRSPAARRAAARSRAAAAGGMRRDPAPGFSMLLFGVSLACYSPSLKSVQDQAYKAP VVVEGKVQGLVPAGGSSSNSTREPPASGRVALVKVLDKWPLRSGGLQREQVISVGSCVPLERNQ RYIFFLEPTEQPLVFKTAFAPLDTNGKNLKKEVGKILCTDCATRPKLKKMKSQTGQVGEKQSLK CEAAAGNPQPSYRWFKDGKELNRSRDIRIKYGNGRKNSRLQFNKVKVEDAGEYVCEAENILGKD TVRGRLYVNSVSTTLSSWSGHARKCNETAKSYCVNGGVCYYIEGINQLSCKCPNGFFGQRCLEK LPLRLYMPDPKQSVLWDTPGTGVSSSQWSTSPSTLDLN hide sequence

RefSeq Acc Id:

XP_011536015 ⟸ XM_011537713

- Peptide Label:

isoform X1

- Sequence:

show sequence

MRQVCCSALPPPPLEKGRCSSYSDSSSSSSERSSSSSSSSSESGSSSRSSSNNSSISRPAAPPE
PRPQQQPQPRSPAARRAAARSRAAAAGGMRRDPAPGFSMLLFGVSLACYSPSLKSVQDQAYKAP
VVVEGKVQGLVPAGGSSSNSTREPPASGRVALVKVLDKWPLRSGGLQREQVISVGSCVPLERNQ
RYIFFLEPTEQPLVFKTAFAPLDTNGKNLKKEVGKILCTDCATRPKLKKMKSQTGQVGEKQSLK
CEAAAGNPQPSYRWFKDGKELNRSRDIRIKYGNGRKNSRLQFNKVKVEDAGEYVCEAENILGKD
TVRGRLYVNSVSTTLSSWSGHARKCNETAKSYCVNGGVCYYIEGINQLSCKAPGLHCLELGTQS
HHFPISASPGSSQGSWNQLPQHPLSALGGEGSPGGDAVRTPGPQSCAGEGQGGGGQGRAQRPFC
GWTSWEGRWAGLLGFLMTPEWNKKERT

hide sequence

Ensembl Acc Id:

ENSP00000444235 ⟸ ENST00000541337

Ensembl Acc Id:

ENSP00000354910 ⟸ ENST00000361474

Ensembl Acc Id:

ENSP00000367483 ⟸ ENST00000378238

Ensembl Acc Id:

ENSP00000289422 ⟸ ENST00000289422

Ensembl Acc Id:

ENSP00000289409 ⟸ ENST00000289409

Ensembl Acc Id:

ENSP00000342660 ⟸ ENST00000340391

Ensembl Acc Id:

ENSP00000351323 ⟸ ENST00000358522

RefSeq Acc Id:	XP_047273853 ⟸ XM_047417897
- Peptide Label:	isoform X2

RefSeq Acc Id:	NP_001397709 ⟸ NM_001410780
- Peptide Label:	isoform 8

RefSeq Acc Id:	XP_054209806 ⟸ XM_054353831
- Peptide Label:	isoform X3

RefSeq Acc Id:	XP_054209805 ⟸ XM_054353830
- Peptide Label:	isoform X2

RefSeq Acc Id:	XP_054209807 ⟸ XM_054353832
- Peptide Label:	isoform X4

RefSeq Acc Id:	XP_054209804 ⟸ XM_054353829
- Peptide Label:	isoform X1

Protein Domains

EGF-like Ig-like Ig-like C2-type

Protein Structures

Name	Modeler	Protein Id	AA Range	Protein Structure
AF-O14511-F1-model_v2	AlphaFold	O14511	1-850	view protein structure

Promoters

RGD ID:

6812787

Promoter ID:

HG_ACW:65544

Type:

CpG-Island

SO ACC ID:

SO:0000170

Source:

MPROMDB

Tissues & Cell Lines:

K562, Lymphoblastoid

Transcripts:

NRG2.GAPR07-UNSPLICED

Position:

Human Assembly	Chr	Position (strand)	Source
Build 36	5	139,208,216 - 139,208,716 (-)	MPROMDB

RGD ID:

6803080

Promoter ID:

HG_KWN:51251

Type:

CpG-Island

SO ACC ID:

SO:0000170

Source:

MPROMDB

Tissues & Cell Lines:

CD4+TCell_12Hour, K562, Lymphoblastoid

Transcripts:

ENST00000289422, ENST00000358522, ENST00000378238, ENST00000394770

Position:

Human Assembly	Chr	Position (strand)	Source
Build 36	5	139,402,161 - 139,403,527 (-)	MPROMDB

RGD ID:

6870782

Promoter ID:

EPDNEW_H8556

Type:

initiation region

Name:

NRG2_1

Description:

neuregulin 2

SO ACC ID:

SO:0000170

Source:

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

Alternative Promoters:

null; see alsoEPDNEW_H8557

Experiment Methods:

Single-end sequencing.

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	5	140,043,012 - 140,043,072	EPDNEW

RGD ID:

6870784

Promoter ID:

EPDNEW_H8557

Type:

initiation region

Name:

NRG2_2

Description:

neuregulin 2

SO ACC ID:

SO:0000170

Source:

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

Alternative Promoters:

null; see alsoEPDNEW_H8556

Experiment Methods:

Single-end sequencing.

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	5	140,043,267 - 140,043,327	EPDNEW

Additional Information

External Database Links

Database	Acc Id	Source(s)
AGR Gene	HGNC:7998	AgrOrtholog
COSMIC	NRG2	COSMIC
Ensembl Genes	ENSG00000158458	Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript	ENST00000289409	ENTREZGENE
	ENST00000289409.8	UniProtKB/Swiss-Prot
	ENST00000289422	ENTREZGENE
	ENST00000289422.11	UniProtKB/Swiss-Prot
	ENST00000340391	ENTREZGENE
	ENST00000340391.8	UniProtKB/Swiss-Prot
	ENST00000358522	ENTREZGENE
	ENST00000358522.7	UniProtKB/Swiss-Prot
	ENST00000361474	ENTREZGENE
	ENST00000361474.6	UniProtKB/Swiss-Prot
	ENST00000378238	ENTREZGENE
	ENST00000378238.5	UniProtKB/Swiss-Prot
	ENST00000541337	ENTREZGENE
	ENST00000541337.5	UniProtKB/TrEMBL
Gene3D-CATH	2.60.40.10	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	Laminin	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx	ENSG00000158458	GTEx
HGNC ID	HGNC:7998	ENTREZGENE
Human Proteome Map	NRG2	Human Proteome Map
InterPro	EGF-like_dom	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	Ig-like_dom	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	Ig-like_dom_sf	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	Ig-like_fold	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	Ig_I-set	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	Ig_sub	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	Ig_sub2	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	Neuregulin	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	Neuregulin_C	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report	hsa:9542	UniProtKB/Swiss-Prot
NCBI Gene	9542	ENTREZGENE
OMIM	603818	OMIM
PANTHER	PRO-NEUREGULIN-2, MEMBRANE-BOUND ISOFORM	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	PTHR11100	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam	I-set	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	Neuregulin	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB	PA31777	PharmGKB
PROSITE	EGF_1	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	EGF_2	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	EGF_3	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	IG_LIKE	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART	IGc2	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	SM00409	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP	EGF/Laminin	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	SSF48726	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt	F5GZS7	ENTREZGENE, UniProtKB/TrEMBL
	NRG2_HUMAN	UniProtKB/Swiss-Prot, ENTREZGENE
	Q3MI86_HUMAN	UniProtKB/TrEMBL

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

RGD Manual Annotations

Imported Annotations - KEGG (archival)

Imported Annotations - PID (archival)

Imported Human Phenotype Annotations - ClinVar

Send us a Message

Imported Disease Annotations - ClinVar

RGD Manual Annotations

Imported Annotations - KEGG (archival)

Imported Annotations - PID (archival)

Imported Human Phenotype Annotations - ClinVar