EYA2 (EYA transcriptional coactivator and phosphatase 2)

Gene: EYA2 (EYA transcriptional coactivator and phosphatase 2) Homo sapiens

Analyze

Symbol:

EYA2

Name:

EYA transcriptional coactivator and phosphatase 2

RGD ID:

1350703

HGNC Page

HGNC:3520

Description:

Enables histone H2AXY142 phosphatase activity and magnesium ion binding activity. Predicted to be involved in cell differentiation; negative regulation of extrinsic apoptotic signaling pathway in absence of ligand; and positive regulation of DNA repair. Predicted to act upstream of or within extrinsic apoptotic signaling pathway in absence of ligand; mitochondrial outer membrane permeabilization; and striated muscle tissue development. Located in cytosol.

Type:

protein-coding

RefSeq Status:

REVIEWED

Previously known as:

EAB1; eyes absent homolog 2; MGC10614

RGD Orthologs

Alliance Orthologs

More Info

more info ...

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	20	46,894,843 - 47,188,844 (+)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	20	46,894,624 - 47,188,844 (+)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	20	45,523,482 - 45,817,492 (+)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	20	44,956,916 - 45,250,899 (+)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	20	45,040,280 - 45,250,897	NCBI
Celera	20	42,236,954 - 42,531,188 (+)	NCBI		Celera
Cytogenetic Map	20	q13.12	NCBI
HuRef	20	42,266,395 - 42,561,039 (+)	NCBI		HuRef
CHM1_1	20	45,426,259 - 45,720,382 (+)	NCBI		CHM1_1
T2T-CHM13v2.0	20	48,632,937 - 48,926,940 (+)	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

focal epilepsy (IAGP)

hereditary breast ovarian cancer syndrome (IAGP)

Gene-Chemical Interaction Annotations Click to see Annotation Detail View

(-)-epigallocatechin 3-gallate (EXP)

17alpha-ethynylestradiol (ISO)

17beta-estradiol (ISO)

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

3,4-methylenedioxymethamphetamine (ISO)

4,4'-sulfonyldiphenol (ISO)

6-propyl-2-thiouracil (ISO)

acetamide (ISO)

acrylamide (EXP,ISO)

aflatoxin B1 (EXP,ISO)

all-trans-retinoic acid (EXP,ISO)

alpha-Zearalanol (ISO)

ammonium chloride (ISO)

benzbromarone (EXP)

benzo[a]pyrene (EXP,ISO)

bis(2-chloroethyl) sulfide (ISO)

bis(2-ethylhexyl) phthalate (ISO)

bisphenol A (EXP,ISO)

bisphenol F (EXP,ISO)

cadmium atom (EXP)

cadmium dichloride (EXP)

carbamazepine (EXP)

CGP 52608 (EXP)

chlorpyrifos (ISO)

chromium(6+) (EXP)

cocaine (ISO)

crocidolite asbestos (ISO)

Cuprizon (ISO)

cyclosporin A (EXP)

dorsomorphin (EXP)

elemental selenium (EXP)

fenvalerate (ISO)

flavonoids (ISO)

fulvestrant (EXP)

genistein (ISO)

glycidol (ISO)

glyphosate (ISO)

methoxychlor (ISO)

methylmercury chloride (EXP)

N-Nitrosopyrrolidine (EXP)

nickel atom (EXP)

nickel sulfate (EXP)

O-methyleugenol (EXP)

paracetamol (EXP,ISO)

perfluorooctanoic acid (ISO)

phenylephrine (ISO)

phenylmercury acetate (EXP)

potassium chromate (EXP)

resveratrol (EXP)

retinyl acetate (ISO)

SB 431542 (EXP)

selenium atom (EXP)

sodium arsenite (EXP)

Soman (ISO)

streptozocin (ISO)

titanium dioxide (ISO)

trichloroethene (ISO)

trichostatin A (EXP)

trimellitic anhydride (ISO)

valproic acid (EXP)

vinclozolin (ISO)

vitamin E (EXP)

Gene Ontology Annotations Click to see Annotation Detail View

Biological Process

cell differentiation (IBA,IEA)

chromatin organization (IEA)

chromatin remodeling (IEA)

DNA repair (IEA)

extrinsic apoptotic signaling pathway in absence of ligand (IEA,ISO)

mesodermal cell fate specification (TAS)

mitochondrial outer membrane permeabilization (IEA,ISO)

negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (IBA,IEA)

positive regulation of DNA repair (IBA,IEA)

striated muscle tissue development (IEA,ISO)

Cellular Component

cytoplasm (IEA)

cytosol (IDA)

mitochondrion (IEA)

nucleolus (ISO)

nucleoplasm (TAS)

nucleus (IBA,IEA)

Molecular Function

histone H2AXY142 phosphatase activity (IDA)

magnesium ion binding (IDA)

metal ion binding (IEA)

phosphoprotein phosphatase activity (IEA)

protein binding (IPI)

protein tyrosine phosphatase activity (IBA,IEA)

transcription factor binding (ISO)

Phenotype Annotations Click to see Annotation Detail View

Human Phenotype

Focal-onset seizure (IAGP)

References

References - curated

#	Reference Title	Reference Citation
1.	GOAs Human GO annotations	GOA_HUMAN data from the GO Consortium
2.	ClinVar Automated Import and Annotation Pipeline	RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
3.	Data Import for Chemical-Gene Interactions	RGD automated import pipeline for gene-chemical interactions

Additional References at PubMed

PMID:8619474	PMID:9020840	PMID:9049631	PMID:9110174	PMID:9195991	PMID:9887327	PMID:10490620	PMID:10906137	PMID:11780052	PMID:12039049	PMID:12477932	PMID:12500905
PMID:14702039	PMID:15489334	PMID:15705892	PMID:16189514	PMID:18029348	PMID:19351884	PMID:19414679	PMID:19497856	PMID:19858093	PMID:19913121	PMID:19950702	PMID:20201926
PMID:20211142	PMID:20379614	PMID:20628086	PMID:21516116	PMID:21706047	PMID:21873635	PMID:22589738	PMID:22607316	PMID:22678362	PMID:22987659	PMID:23400010	PMID:23435380
PMID:24196439	PMID:24508260	PMID:24810906	PMID:25555392	PMID:26329363	PMID:26837415	PMID:27432908	PMID:27880917	PMID:28065597	PMID:28330616	PMID:28416638	PMID:28514442
PMID:28675297	PMID:28703807	PMID:28901379	PMID:30449183	PMID:31317026	PMID:32296183	PMID:32393512	PMID:33015798	PMID:33961781	PMID:34044846	PMID:34617969	PMID:34761455
PMID:35182481	PMID:37486991

Genomics

Comparative Map Data

EYA2
(Homo sapiens - human)

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	20	46,894,843 - 47,188,844 (+)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	20	46,894,624 - 47,188,844 (+)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	20	45,523,482 - 45,817,492 (+)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	20	44,956,916 - 45,250,899 (+)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	20	45,040,280 - 45,250,897	NCBI
Celera	20	42,236,954 - 42,531,188 (+)	NCBI		Celera
Cytogenetic Map	20	q13.12	NCBI
HuRef	20	42,266,395 - 42,561,039 (+)	NCBI		HuRef
CHM1_1	20	45,426,259 - 45,720,382 (+)	NCBI		CHM1_1
T2T-CHM13v2.0	20	48,632,937 - 48,926,940 (+)	NCBI		T2T-CHM13v2.0

Eya2
(Mus musculus - house mouse)

Mouse Assembly	Chr	Position (strand)	Source	Genome Browsers
Mouse Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCm39	2	165,436,892 - 165,613,645 (+)	NCBI	GRCm39	GRCm39	mm39
GRCm39 Ensembl	2	165,436,952 - 165,613,647 (+)	Ensembl		GRCm39 Ensembl
GRCm38	2	165,595,028 - 165,771,727 (+)	NCBI	GRCm38	GRCm38	mm10	GRCm38
GRCm38.p6 Ensembl	2	165,595,032 - 165,771,727 (+)	Ensembl	GRCm38		mm10	GRCm38
MGSCv37	2	165,480,798 - 165,597,131 (+)	NCBI	GRCm37	MGSCv37	mm9	NCBIm37
MGSCv36	2	165,346,503 - 165,462,836 (+)	NCBI		MGSCv36	mm8
Celera	2	171,595,465 - 171,708,914 (+)	NCBI		Celera
Cytogenetic Map	2	H3	NCBI
cM Map	2	85.83	NCBI

Eya2
(Rattus norvegicus - Norway rat)

Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCr8	3	174,754,772 - 174,938,035 (+)	NCBI		GRCr8
mRatBN7.2	3	154,335,598 - 154,519,006 (+)	NCBI	mRatBN7.2	mRatBN7.2
mRatBN7.2 Ensembl	3	154,335,400 - 154,518,793 (+)	Ensembl		mRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx	3	158,214,097 - 158,322,360 (+)	NCBI	Rnor_SHR	UTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0	3	166,713,095 - 166,821,357 (+)	NCBI	Rnor_SHRSP	UTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0	3	164,454,709 - 164,562,989 (+)	NCBI	Rnor_WKY	UTH_Rnor_WKY_Bbb_1.0
Rnor_6.0	3	162,285,275 - 162,470,642 (+)	NCBI	Rnor6.0	Rnor_6.0	rn6	Rnor6.0
Rnor_6.0 Ensembl	3	162,346,490 - 162,470,065 (+)	Ensembl	Rnor6.0		rn6	Rnor6.0
Rnor_5.0	3	168,527,052 - 168,647,898 (+)	NCBI	Rnor5.0	Rnor_5.0	rn5	Rnor5.0
RGSC_v3.4	3	156,731,490 - 156,848,691 (+)	NCBI	RGSC3.4	RGSC_v3.4	rn4	RGSC3.4
RGSC_v3.1	3	156,685,847 - 156,746,476 (+)	NCBI
Celera	3	153,000,284 - 153,109,100 (+)	NCBI		Celera
Cytogenetic Map	3	q42	NCBI

Eya2
(Chinchilla lanigera - long-tailed chinchilla)

Chinchilla Assembly	Chr	Position (strand)	Source	Genome Browsers
Chinchilla Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
ChiLan1.0 Ensembl	NW_004955445	10,369,514 - 10,603,953 (-)	Ensembl	ChiLan1.0
ChiLan1.0	NW_004955445	10,368,869 - 10,520,246 (-)	NCBI	ChiLan1.0	ChiLan1.0

EYA2
(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	21	52,629,651 - 52,923,413 (+)	NCBI		NHGRI_mPanPan1-v2
NHGRI_mPanPan1	20	52,622,756 - 52,916,518 (+)	NCBI		NHGRI_mPanPan1
Mhudiblu_PPA_v0	20	43,226,621 - 43,520,301 (+)	NCBI	Mhudiblu_PPA_v0	Mhudiblu_PPA_v0	panPan3
PanPan1.1	20	44,310,517 - 44,603,846 (+)	NCBI	panpan1.1	PanPan1.1	panPan2
PanPan1.1 Ensembl	20	44,310,451 - 44,607,468 (+)	Ensembl	panpan1.1		panPan2

EYA2
(Canis lupus familiaris - dog)

Dog Assembly	Chr	Position (strand)	Source	Genome Browsers
Dog Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
CanFam3.1	24	34,126,086 - 34,308,412 (+)	NCBI	CanFam3.1	CanFam3.1	canFam3	CanFam3.1
CanFam3.1 Ensembl	24	34,082,197 - 34,308,423 (+)	Ensembl	CanFam3.1		canFam3	CanFam3.1
Dog10K_Boxer_Tasha	24	33,504,631 - 33,767,623 (+)	NCBI		Dog10K_Boxer_Tasha
ROS_Cfam_1.0	24	34,753,206 - 35,017,240 (+)	NCBI		ROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl	24	34,802,105 - 35,017,234 (+)	Ensembl		ROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1	24	34,009,635 - 34,272,364 (+)	NCBI		UMICH_Zoey_3.1
UNSW_CanFamBas_1.0	24	34,127,141 - 34,390,163 (+)	NCBI		UNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0	24	34,666,914 - 34,930,928 (+)	NCBI		UU_Cfam_GSD_1.0

Eya2
(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_024408640	190,770,099 - 190,949,251 (-)	NCBI		HiC_Itri_2
SpeTri2.0 Ensembl	NW_004936514	6,223,719 - 6,341,326 (-)	Ensembl	SpeTri2.0	SpeTri2.0 Ensembl
SpeTri2.0	NW_004936514	6,223,745 - 6,401,985 (-)	NCBI	SpeTri2.0	SpeTri2.0		SpeTri2.0

EYA2
(Sus scrofa - pig)

Pig Assembly	Chr	Position (strand)	Source	Genome Browsers
Pig Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
Sscrofa11.1 Ensembl	17	48,966,814 - 49,243,739 (+)	Ensembl	Sscrofa11.1		susScr11	Sscrofa11.1
Sscrofa11.1	17	48,930,682 - 49,243,789 (+)	NCBI	Sscrofa11.1	Sscrofa11.1	susScr11	Sscrofa11.1
Sscrofa10.2	17	54,833,230 - 55,078,393 (+)	NCBI	Sscrofa10.2	Sscrofa10.2	susScr3

EYA2
(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	2	16,717,300 - 17,001,893 (-)	NCBI	ChlSab1.1	ChlSab1.1	chlSab2
ChlSab1.1 Ensembl	2	16,717,291 - 17,001,703 (-)	Ensembl	ChlSab1.1	ChlSab1.1 Ensembl	chlSab2
Vero_WHO_p1.0	NW_023666050	65,351,749 - 65,637,914 (-)	NCBI	Vero_WHO_p1.0	Vero_WHO_p1.0

Eya2
(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_004624790	7,620,756 - 7,775,933 (-)	Ensembl	HetGla_female_1.0	HetGla_female_1.0 Ensembl	hetGla2
HetGla 1.0	NW_004624790	7,620,935 - 7,852,072 (-)	NCBI	HetGla_female_1.0	HetGla 1.0	hetGla2

Variants

Variants in EYA2
78 total Variants

Clinical Variants

Name	Type	Condition(s)	Position(s)	Clinical significance
NM_005244.4(EYA2):c.415+13906C>T	single nucleotide variant	Lung cancer [RCV000101620]	Chr20:47030203 [GRCh38] Chr20:45658842 [GRCh37] Chr20:20q13.12	uncertain significance
NM_005244.4(EYA2):c.805-2947G>A	single nucleotide variant	Lung cancer [RCV000101622]	Chr20:47094138 [GRCh38] Chr20:45722777 [GRCh37] Chr20:20q13.12	uncertain significance
NM_005244.4(EYA2):c.805-1057G>A	single nucleotide variant	Lung cancer [RCV000101623]	Chr20:47096028 [GRCh38] Chr20:45724667 [GRCh37] Chr20:20q13.12	uncertain significance
GRCh38/hg38 20q13.12-13.33(chr20:44787704-64277321)x3	copy number gain	See cases [RCV000053035]	Chr20:44787704..64277321 [GRCh38] Chr20:43416345..62908674 [GRCh37] Chr20:42849759..62379118 [NCBI36] Chr20:20q13.12-13.33	pathogenic
NM_005244.4(EYA2):c.731C>T (p.Ala244Val)	single nucleotide variant	Malignant melanoma [RCV000072670]	Chr20:47089308 [GRCh38] Chr20:45717947 [GRCh37] Chr20:45151354 [NCBI36] Chr20:20q13.12	not provided
NM_005244.4(EYA2):c.1221G>A (p.Arg407=)	single nucleotide variant	Malignant melanoma [RCV000072671]	Chr20:47179820 [GRCh38] Chr20:45808468 [GRCh37] Chr20:45241875 [NCBI36] Chr20:20q13.12	not provided
GRCh38/hg38 20p13-q13.33(chr20:99557-64277321)x3	copy number gain	See cases [RCV000135859]	Chr20:99557..64277321 [GRCh38] Chr20:80198..62908674 [GRCh37] Chr20:28198..62379118 [NCBI36] Chr20:20p13-q13.33	pathogenic
GRCh38/hg38 20q11.22-13.12(chr20:35237946-47631818)x1	copy number loss	See cases [RCV000140816]	Chr20:35237946..47631818 [GRCh38] Chr20:33825749..46260562 [GRCh37] Chr20:33289165..45693969 [NCBI36] Chr20:20q11.22-13.12	pathogenic
NM_005244.5(EYA2):c.751G>T (p.Gly251Cys)	single nucleotide variant	Hereditary breast ovarian cancer syndrome [RCV001374571]\|not specified [RCV004035391]	Chr20:47089328 [GRCh38] Chr20:45717967 [GRCh37] Chr20:20q13.12	uncertain significance
GRCh37/hg19 20p13-q13.33(chr20:61569-62915555)x3	copy number gain	See cases [RCV000510832]	Chr20:61569..62915555 [GRCh37] Chr20:20p13-q13.33	pathogenic
NM_005244.5(EYA2):c.262C>T (p.Pro88Ser)	single nucleotide variant	not specified [RCV004297233]	Chr20:47005048 [GRCh38] Chr20:45633687 [GRCh37] Chr20:20q13.12	uncertain significance
NM_005244.5(EYA2):c.1537C>T (p.His513Tyr)	single nucleotide variant	not specified [RCV004327506]	Chr20:47188053 [GRCh38] Chr20:45816701 [GRCh37] Chr20:20q13.12	uncertain significance
GRCh37/hg19 20p13-q13.33(chr20:61569-62915555)	copy number gain	See cases [RCV000512450]	Chr20:61569..62915555 [GRCh37] Chr20:20p13-q13.33	pathogenic
GRCh37/hg19 20q13.12(chr20:45756621-45846429)x3	copy number gain	not provided [RCV000681439]	Chr20:45756621..45846429 [GRCh37] Chr20:20q13.12	uncertain significance
Single allele	deletion	Focal-onset seizure [RCV001004039]	Chr20:34980430..46806549 [GRCh37] Chr20:20q11.23-13.13	likely pathogenic
GRCh37/hg19 20p13-q13.33(chr20:63244-62961294)x3	copy number gain	not provided [RCV000741059]	Chr20:63244..62961294 [GRCh37] Chr20:20p13-q13.33	pathogenic
GRCh37/hg19 20p13-q13.33(chr20:63244-62912463)x3	copy number gain	not provided [RCV000741057]	Chr20:63244..62912463 [GRCh37] Chr20:20p13-q13.33	pathogenic
GRCh37/hg19 20p13-q13.33(chr20:63244-62948788)x3	copy number gain	not provided [RCV000741058]	Chr20:63244..62948788 [GRCh37] Chr20:20p13-q13.33	pathogenic
NM_005244.5(EYA2):c.277G>A (p.Ala93Thr)	single nucleotide variant	not provided [RCV000962811]	Chr20:47005063 [GRCh38] Chr20:45633702 [GRCh37] Chr20:20q13.12	benign
NM_005244.5(EYA2):c.712A>G (p.Thr238Ala)	single nucleotide variant	not provided [RCV000963394]	Chr20:47089289 [GRCh38] Chr20:45717928 [GRCh37] Chr20:20q13.12	benign
GRCh37/hg19 20q13.12(chr20:45626379-46257019)x3	copy number gain	not provided [RCV001833045]	Chr20:45626379..46257019 [GRCh37] Chr20:20q13.12	uncertain significance
GRCh37/hg19 20q13.12-13.13(chr20:42985044-48599046)x1	copy number loss	Developmental and epileptic encephalopathy, 26 [RCV001801198]	Chr20:42985044..48599046 [GRCh37] Chr20:20q13.12-13.13	pathogenic
NM_005244.5(EYA2):c.1006G>A (p.Val336Ile)	single nucleotide variant	not specified [RCV004209851]	Chr20:47169166 [GRCh38] Chr20:45797814 [GRCh37] Chr20:20q13.12	uncertain significance
NM_005244.5(EYA2):c.1120G>A (p.Val374Met)	single nucleotide variant	not specified [RCV004205217]	Chr20:47172789 [GRCh38] Chr20:45801437 [GRCh37] Chr20:20q13.12	uncertain significance
NM_005244.5(EYA2):c.223A>G (p.Ser75Gly)	single nucleotide variant	not specified [RCV004082884]	Chr20:47005009 [GRCh38] Chr20:45633648 [GRCh37] Chr20:20q13.12	uncertain significance
NM_005244.5(EYA2):c.904G>A (p.Val302Met)	single nucleotide variant	not specified [RCV004164689]	Chr20:47143074 [GRCh38] Chr20:45771713 [GRCh37] Chr20:20q13.12	uncertain significance
NM_005244.5(EYA2):c.607G>A (p.Val203Ile)	single nucleotide variant	not specified [RCV004072993]	Chr20:47074281 [GRCh38] Chr20:45702920 [GRCh37] Chr20:20q13.12	uncertain significance
NM_005244.5(EYA2):c.1159G>T (p.Val387Leu)	single nucleotide variant	not specified [RCV004118707]	Chr20:47172828 [GRCh38] Chr20:45801476 [GRCh37] Chr20:20q13.12	uncertain significance
NM_005244.5(EYA2):c.1100G>T (p.Gly367Val)	single nucleotide variant	not specified [RCV004124527]	Chr20:47172769 [GRCh38] Chr20:45801417 [GRCh37] Chr20:20q13.12	uncertain significance
NM_005244.5(EYA2):c.122C>T (p.Ser41Leu)	single nucleotide variant	not specified [RCV004231459]	Chr20:47001440 [GRCh38] Chr20:45630079 [GRCh37] Chr20:20q13.12	uncertain significance
NM_005244.5(EYA2):c.814G>A (p.Val272Met)	single nucleotide variant	not specified [RCV004204912]	Chr20:47097094 [GRCh38] Chr20:45725733 [GRCh37] Chr20:20q13.12	uncertain significance
NM_005244.5(EYA2):c.524C>T (p.Pro175Leu)	single nucleotide variant	not specified [RCV004077143]	Chr20:47074198 [GRCh38] Chr20:45702837 [GRCh37] Chr20:20q13.12	uncertain significance
NM_005244.5(EYA2):c.896C>T (p.Thr299Met)	single nucleotide variant	not specified [RCV004127255]	Chr20:47143066 [GRCh38] Chr20:45771705 [GRCh37] Chr20:20q13.12	uncertain significance
NM_005244.5(EYA2):c.790G>A (p.Asp264Asn)	single nucleotide variant	not specified [RCV004243828]	Chr20:47089367 [GRCh38] Chr20:45718006 [GRCh37] Chr20:20q13.12	uncertain significance
NM_005244.5(EYA2):c.1570G>A (p.Ala524Thr)	single nucleotide variant	not specified [RCV004069293]	Chr20:47188086 [GRCh38] Chr20:45816734 [GRCh37] Chr20:20q13.12	uncertain significance
NM_005244.5(EYA2):c.1045A>T (p.Asn349Tyr)	single nucleotide variant	not specified [RCV004229111]	Chr20:47172714 [GRCh38] Chr20:45801362 [GRCh37] Chr20:20q13.12	uncertain significance
NM_005244.5(EYA2):c.1267C>T (p.Leu423Phe)	single nucleotide variant	not specified [RCV004071115]	Chr20:47179866 [GRCh38] Chr20:45808514 [GRCh37] Chr20:20q13.12	uncertain significance
NM_005244.5(EYA2):c.166C>A (p.Arg56Ser)	single nucleotide variant	not specified [RCV004175385]	Chr20:47004952 [GRCh38] Chr20:45633591 [GRCh37] Chr20:20q13.12	uncertain significance
NM_005244.5(EYA2):c.1405A>G (p.Ile469Val)	single nucleotide variant	not specified [RCV004133594]	Chr20:47180906 [GRCh38] Chr20:45809554 [GRCh37] Chr20:20q13.12	uncertain significance
NM_005244.5(EYA2):c.584C>T (p.Ser195Leu)	single nucleotide variant	not specified [RCV004085660]	Chr20:47074258 [GRCh38] Chr20:45702897 [GRCh37] Chr20:20q13.12	uncertain significance
NM_005244.5(EYA2):c.535G>C (p.Gly179Arg)	single nucleotide variant	not specified [RCV004275805]	Chr20:47074209 [GRCh38] Chr20:45702848 [GRCh37] Chr20:20q13.12	uncertain significance
NM_005244.5(EYA2):c.71G>A (p.Arg24His)	single nucleotide variant	not specified [RCV004357370]	Chr20:46990081 [GRCh38] Chr20:45618720 [GRCh37] Chr20:20q13.12	uncertain significance
NM_005244.5(EYA2):c.475G>A (p.Val159Met)	single nucleotide variant	not specified [RCV004350877]	Chr20:47072244 [GRCh38] Chr20:45700883 [GRCh37] Chr20:20q13.12	uncertain significance
NM_005244.5(EYA2):c.537C>T (p.Gly179=)	single nucleotide variant	not provided [RCV003440427]	Chr20:47074211 [GRCh38] Chr20:45702850 [GRCh37] Chr20:20q13.12	likely benign
NM_005244.5(EYA2):c.725A>G (p.His242Arg)	single nucleotide variant	not specified [RCV004385700]	Chr20:47089302 [GRCh38] Chr20:45717941 [GRCh37] Chr20:20q13.12	uncertain significance
NM_005244.5(EYA2):c.98G>A (p.Ser33Asn)	single nucleotide variant	not specified [RCV004385703]	Chr20:46990108 [GRCh38] Chr20:45618747 [GRCh37] Chr20:20q13.12	uncertain significance
NM_005244.5(EYA2):c.551C>T (p.Pro184Leu)	single nucleotide variant	not specified [RCV004385697]	Chr20:47074225 [GRCh38] Chr20:45702864 [GRCh37] Chr20:20q13.12	uncertain significance
NM_005244.5(EYA2):c.435A>C (p.Gln145His)	single nucleotide variant	not specified [RCV004385696]	Chr20:47072204 [GRCh38] Chr20:45700843 [GRCh37] Chr20:20q13.12	uncertain significance
NM_005244.5(EYA2):c.631G>A (p.Val211Ile)	single nucleotide variant	not specified [RCV004385699]	Chr20:47074305 [GRCh38] Chr20:45702944 [GRCh37] Chr20:20q13.12	uncertain significance
NM_005244.5(EYA2):c.793A>G (p.Asn265Asp)	single nucleotide variant	not specified [RCV004385701]	Chr20:47089370 [GRCh38] Chr20:45718009 [GRCh37] Chr20:20q13.12	uncertain significance
NM_005244.5(EYA2):c.910A>G (p.Ile304Val)	single nucleotide variant	not specified [RCV004385702]	Chr20:47143080 [GRCh38] Chr20:45771719 [GRCh37] Chr20:20q13.12	uncertain significance

miRNA Target Status

Predicted Target Of

	Summary Value
Count of predictions:	2350
Count of miRNA genes:	842
Interacting mature miRNAs:	982
Transcripts:	ENST00000317304, ENST00000327619, ENST00000357410, ENST00000458636, ENST00000471081, ENST00000475856, ENST00000479843, ENST00000497062, ENST00000497428
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.

Markers in Region

WI-14748

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	20	45,817,349 - 45,817,477	UniSTS	GRCh37
Build 36	20	45,250,756 - 45,250,884	RGD	NCBI36
Celera	20	42,531,045 - 42,531,173	RGD
Cytogenetic Map	20	q13.1	UniSTS
HuRef	20	42,560,896 - 42,561,024	UniSTS
GeneMap99-GB4 RH Map	20	261.05	UniSTS
GeneMap99-GB4 RH Map	20	263.98	UniSTS
Whitehead-RH Map	20	298.1	UniSTS
NCBI RH Map	20	487.3	UniSTS

D20S1107

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	20	45,746,492 - 45,746,685	UniSTS	GRCh37
Build 36	20	45,179,899 - 45,180,092	RGD	NCBI36
Celera	20	42,460,212 - 42,460,405	RGD
Cytogenetic Map	20	q13.1	UniSTS
HuRef	20	42,489,879 - 42,490,072	UniSTS
GeneMap99-GB4 RH Map	20	268.73	UniSTS
GeneMap99-G3 RH Map	20	2399.0	UniSTS

SHGC-8524

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	20	45,660,869 - 45,660,979	UniSTS	GRCh37
Build 36	20	45,094,276 - 45,094,386	RGD	NCBI36
Celera	20	42,374,616 - 42,374,726	RGD
Cytogenetic Map	20	q13.1	UniSTS
HuRef	20	42,404,008 - 42,404,118	UniSTS
Stanford-G3 RH Map	20	2366.0	UniSTS
NCBI RH Map	20	484.1	UniSTS

D20S796

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	20	45,687,720 - 45,687,886	UniSTS	GRCh37
Build 36	20	45,121,127 - 45,121,293	RGD	NCBI36
Celera	20	42,401,441 - 42,401,607	RGD
Cytogenetic Map	20	q13.1	UniSTS
HuRef	20	42,430,839 - 42,431,005	UniSTS

G05261

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	20	45,809,921 - 45,810,020	UniSTS	GRCh37
Build 36	20	45,243,328 - 45,243,427	RGD	NCBI36
Celera	20	42,523,633 - 42,523,732	RGD
Cytogenetic Map	20	q13.1	UniSTS
HuRef	20	42,553,486 - 42,553,585	UniSTS

RH16187

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	20	45,664,307 - 45,664,436	UniSTS	GRCh37
Build 36	20	45,097,714 - 45,097,843	RGD	NCBI36
Celera	20	42,378,054 - 42,378,183	RGD
Cytogenetic Map	20	q13.1	UniSTS
HuRef	20	42,407,446 - 42,407,575	UniSTS

SHGC-145586

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	20	45,537,477 - 45,537,762	UniSTS	GRCh37
Build 36	20	44,970,884 - 44,971,169	RGD	NCBI36
Celera	20	42,251,165 - 42,251,446	RGD
Cytogenetic Map	20	q13.1	UniSTS
HuRef	20	42,280,611 - 42,280,897	UniSTS
TNG Radiation Hybrid Map	20	21330.0	UniSTS

G01530

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	20	45,760,431 - 45,760,583	UniSTS	GRCh37
Build 36	20	45,193,838 - 45,193,990	RGD	NCBI36
Celera	20	42,474,152 - 42,474,304	RGD
Cytogenetic Map	20	q13.1	UniSTS
HuRef	20	42,503,820 - 42,503,972	UniSTS

AL021632

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	20	45,682,631 - 45,682,814	UniSTS	GRCh37
Build 36	20	45,116,038 - 45,116,221	RGD	NCBI36
Celera	20	42,396,351 - 42,396,534	RGD
Cytogenetic Map	20	q13.1	UniSTS
HuRef	20	42,425,753 - 42,425,936	UniSTS

EYA2_8337

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	20	45,816,769 - 45,817,581	UniSTS	GRCh37
Build 36	20	45,250,176 - 45,250,988	RGD	NCBI36
Celera	20	42,530,465 - 42,531,277	RGD
HuRef	20	42,560,316 - 42,561,128	UniSTS

D20S817

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	20	45,687,791 - 45,687,923	UniSTS	GRCh37
Build 36	20	45,121,198 - 45,121,330	RGD	NCBI36
Celera	20	42,401,512 - 42,401,644	RGD
Cytogenetic Map	20	q13.1	UniSTS
HuRef	20	42,430,910 - 42,431,042	UniSTS

D20S797

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	20	45,687,867 - 45,688,028	UniSTS	GRCh37
Build 36	20	45,121,274 - 45,121,435	RGD	NCBI36
Celera	20	42,401,588 - 42,401,749	RGD
Cytogenetic Map	20	q13.1	UniSTS
HuRef	20	42,430,986 - 42,431,147	UniSTS

AL021631

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	20	45,764,828 - 45,764,951	UniSTS	GRCh37
Build 36	20	45,198,235 - 45,198,358	RGD	NCBI36
Celera	20	42,478,547 - 42,478,670	RGD
Cytogenetic Map	20	q13.1	UniSTS
HuRef	20	42,508,218 - 42,508,341	UniSTS

D20S791

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	20	45,687,546 - 45,687,671	UniSTS	GRCh37
Build 36	20	45,120,953 - 45,121,078	RGD	NCBI36
Celera	20	42,401,267 - 42,401,392	RGD
Cytogenetic Map	20	q13.1	UniSTS
HuRef	20	42,430,665 - 42,430,790	UniSTS
TNG Radiation Hybrid Map	10	30673.0	UniSTS
TNG Radiation Hybrid Map	20	21422.0	UniSTS
Stanford-G3 RH Map	20	2362.0	UniSTS
NCBI RH Map	20	484.1	UniSTS

Expression

RNA-SEQ Expression

High: > 1000 TPM value Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system

circulatory system

endocrine system

exocrine system

hemolymphoid system

hepatobiliary system

integumental system

musculoskeletal system

nervous system

renal system

reproductive system

respiratory system

sensory system

visual system

adipose tissue

appendage

entire extraembryonic component

pharyngeal arch

High

Medium

251

125

740

165

804

768

745

816

164

427

730

Low

1999

1797

710

255

464

254

3379

1676

2864

318

546

685

775

1948

Below cutoff

948

244

181

1008

181

137

418

131

110

View RNA-SEQ Expression Data

Sequence

Nucleotide Sequences


RefSeq Transcripts	NG_011673	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_005244	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_172110	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_005260327	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_017027721	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_047440010	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054323191	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054323192	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
GenBank Nucleotide	AF055015	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AF387364	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AF455147	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AF455148	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AF455149	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AF455150	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AJ007992	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK093582	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK293032	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AL022342	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AL049540	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AL121776	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AL354766	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AL359434	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AY705349	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC000289	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC008803	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC013882	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BT006682	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CH471077	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CP068258	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	KF456925	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	KF456926	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	KT584747	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	U71207	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	U81601	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	Y10261	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles

RefSeq Acc Id:

ENST00000317304 ⟹ ENSP00000321590

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	20	46,990,001 - 47,188,136 (+)	Ensembl

RefSeq Acc Id:

ENST00000327619 ⟹ ENSP00000333640

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	20	46,894,843 - 47,188,844 (+)	Ensembl

RefSeq Acc Id:

ENST00000357410 ⟹ ENSP00000349986

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	20	46,894,624 - 47,188,844 (+)	Ensembl

RefSeq Acc Id:

ENST00000458636 ⟹ ENSP00000395427

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	20	47,001,460 - 47,143,149 (+)	Ensembl

RefSeq Acc Id:

ENST00000471081

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	20	46,979,692 - 46,990,025 (+)	Ensembl

RefSeq Acc Id:

ENST00000475856

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	20	47,089,239 - 47,096,080 (+)	Ensembl

RefSeq Acc Id:

ENST00000479843

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	20	46,979,483 - 46,990,025 (+)	Ensembl

RefSeq Acc Id:

ENST00000497062 ⟹ ENSP00000417105

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	20	46,894,870 - 47,188,844 (+)	Ensembl

RefSeq Acc Id:

ENST00000497428

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	20	46,978,235 - 46,990,070 (+)	Ensembl

RefSeq Acc Id:

ENST00000611592 ⟹ ENSP00000483392

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	20	46,894,624 - 47,188,844 (+)	Ensembl

RefSeq Acc Id:

NM_005244 ⟹ NP_005235

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	20	46,894,843 - 47,188,844 (+)	NCBI
GRCh37	20	45,523,263 - 45,817,492 (+)	ENTREZGENE
Build 36	20	44,956,916 - 45,250,899 (+)	NCBI Archive
HuRef	20	42,266,395 - 42,561,039 (+)	ENTREZGENE
CHM1_1	20	45,426,259 - 45,720,382 (+)	NCBI
T2T-CHM13v2.0	20	48,632,937 - 48,926,940 (+)	NCBI

Sequence:

show sequence

AGCAGCCGCGGCAGCCCAGGAGGCGGAGGCAGCGGCAACGGCAGAGACAGCAACGTGCCCGCCG
CAGTCAGCCCGGCCTCGTCGGACCCGCACCGGCCCGCCCGCCCGCCCGCACCGCGTCGGGGCGC
CCTCTCCACTGCGCGCGGTACAAGGAAATGGTAGAACTAGTGATCTCACCCAGCCTCACTGTAA
ACAGCGATTGTCTGGATAAACTGAAGTTTAACCGTGCTGACGCTGCTGTGTGGACTCTGAGTGA
CAGACAAGGCATCACCAAATCGGCCCCCCTGAGAGTGTCCCAGCTCTTCTCCAGATCTTGCCCA
CGTGTCCTCCCCCGCCAGCCTTCCACAGCCATGGCAGCCTACGGCCAGACGCAGTACAGTGCGG
GGATCCAGCAGGCTACCCCCTATACAGCTTACCCACCTCCAGCACAAGCCTATGGAATCCCTTC
CTACAGCATCAAGACAGAAGACAGCTTGAACCATTCCCCTGGCCAGAGTGGATTCCTCAGCTAT
GGCTCCAGCTTCAGCACCTCACCCACTGGACAGAGCCCATACACCTACCAGATGCACGGCACAA
CAGGGTTCTATCAAGGAGGAAATGGACTGGGCAACGCAGCCGGTTTCGGGAGTGTGCACCAGGA
CTATCCTTCCTACCCCGGCTTCCCCCAGAGCCAGTACCCCCAGTATTACGGCTCATCCTACAAC
CCTCCCTACGTCCCGGCCAGCAGCATCTGCCCTTCGCCCCTCTCCACGTCCACCTACGTCCTCC
AGGAGGCATCTCACAACGTCCCCAACCAGAGTTCCGAGTCACTTGCTGGTGAATACAACACACA
CAATGGACCTTCCACACCAGCGAAAGAGGGAGACACAGACAGGCCGCACCGGGCCTCCGACGGG
AAGCTCCGAGGCCGGTCTAAGAGGAGCAGTGACCCGTCCCCGGCAGGGGACAATGAGATTGAGC
GTGTGTTCGTGTGGGACTTGGATGAGACAATAATTATTTTTCACTCCTTACTCACGGGGACATT
TGCATCCAGATACGGGAAGGACACCACGACGTCCGTGCGCATTGGCCTTATGATGGAAGAGATG
ATCTTCAACCTTGCAGATACACATCTGTTCTTCAATGACCTGGAGGATTGTGACCAGATCCACG
TTGATGACGTCTCATCAGATGACAATGGCCAAGATTTAAGCACATACAACTTCTCCGCTGACGG
CTTCCACAGTTCGGCCCCAGGAGCCAACCTGTGCCTGGGCTCTGGCGTGCACGGCGGCGTGGAC
TGGATGAGGAAGCTGGCCTTCCGCTACCGGCGGGTGAAGGAGATGTACAATACCTACAAGAACA
ACGTTGGTGGGTTGATAGGCACTCCCAAAAGGGAGACCTGGCTACAGCTCCGAGCTGAGCTGGA
AGCTCTCACAGACCTCTGGCTGACCCACTCCCTGAAGGCACTAAACCTCATCAACTCCCGGCCC
AACTGTGTCAATGTGCTGGTCACCACCACTCAACTAATTCCTGCCCTGGCCAAAGTCCTGCTAT
ATGGCCTGGGGTCTGTGTTTCCTATTGAGAACATCTACAGTGCAACCAAGACAGGGAAGGAGAG
CTGCTTCGAGAGGATAATGCAGAGATTCGGCAGAAAAGCTGTCTACGTGGTGATCGGTGATGGT
GTGGAAGAGGAGCAAGGAGCGAAAAAGCACAACATGCCTTTCTGGCGGATATCCTGCCACGCAG
ACCTGGAGGCACTGAGGCACGCCCTGGAGCTGGAGTATTTATAGCAGGATCAGCAGCATCTCCA
CCTGCCATCTCACCCTCAGACCCCCTCGCCTTCCCCACCTCCCCACCGAGAACTCCAGAGACCC
AGATGTTGGACACCAGGAAGGGGCCCCACAGCCGAGACGACGTGTCCAGTGACCATCTCAGAAG
CCGTCCATCAGTCCAAATGGGGGTTCTGAGAAGGAAAGTACCCAACATTGGCTTCGGAGTATTT
GACTTTGGGGAAAAGGGCTGGCTCGGAGTCTAGACTCTTCTGTAAGACTCACAGAACAAAAGCA
AGGAATTGCTGATTTGGGGGGTGCCTGGTGATGAGGAGGGGATGGGTTTGTCTTGTCTTCTTTT
TAATTTATGGACTAGTCTCATTACTCCGGAATTATGCTCTTGTACCTGTGTGGCTGGGTTTCTT
AGTCGTTGGTTTGGTTTGGTTTTTTGAACTGGTATGTGGGGTGGTTCACAGTTCTAATGTAAGC
ACTCTATTCTCCAAGTTGTGCTTTGTGGGGACAATCATTCTTTGAACATTAGAGAGGAAGGCAG
TTCAAGCTGTTGAAAAGACTATTGCTTATTTTTGTTTTTAAAGACCTACTTGACGTCATGTGGA
CAGTGCACGTGCCTTACGCTACATCTTGTTTTCTAGGAAGAGGGGGATGCTGGGAAGGAATGGG
TGCTTTGTGATGGATAAAAGGCATTAAATAAAACCACGTTTACATTTTGAA

hide sequence

RefSeq Acc Id:

NM_172110 ⟹ NP_742108

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	20	46,894,843 - 47,188,844 (+)	NCBI
GRCh37	20	45,523,263 - 45,817,492 (+)	ENTREZGENE
Build 36	20	44,956,916 - 45,250,899 (+)	NCBI Archive
HuRef	20	42,266,395 - 42,561,039 (+)	ENTREZGENE
CHM1_1	20	45,426,259 - 45,720,382 (+)	NCBI
T2T-CHM13v2.0	20	48,632,937 - 48,926,940 (+)	NCBI

Sequence:

show sequence

AGCAGCCGCGGCAGCCCAGGAGGCGGAGGCAGCGGCAACGGCAGAGACAGCAACGTGCCCGCCG
CAGTCAGCCCGGCCTCGTCGGACCCGCACCGGCCCGCCCGCCCGCCCGCACCGCGTCGGGGCGC
CCTCTCCACTGCGCGCGGTACAAGGAAATGGTAGAACTAGTGATCTCACCCAGCCTCACTGTAA
ACAGCGATTGTCTGGATAAACTGAAGTTTAACCGTGCTGACGCTGCTGTGTGGACTCTGAGTGA
CAGACAAGGCATCACCAAATCGGCCCCCCTGAGAGTGTCCCAGCTCTTCTCCAGATCTTGCCCA
CGTGTCCTCCCCCGCCAGCCTTCCACAGCCATGGCAGCCTACGGCCAGACGCAGTACAGTGCGG
GGATCCAGCAGGCTACCCCCTATACAGCTTACCCACCTCCAGCACAAGCCTATGGAATCCCTTC
CTACAGCATCAAGACAGAAGACAGCTTGAACCATTCCCCTGGCCAGAGTGGATTCCTCAGCTAT
GGCTCCAGCTTCAGCACCTCACCCACTGGACAGAGCCCATACACCTACCAGATGCACGGCACAA
CAGGGTTCTATCAAGGAGGAAATGGACTGGGCAACGCAGCCGGTTTCGGGAGTGTGCACCAGGA
CTATCCTTCCTACCCCGGCTTCCCCCAGAGCCAGTACCCCCAGTATTACGGCTCATCCTACAAC
CCTCCCTACGTCCCGGCCAGCAGCATCTGCCCTTCGCCCCTCTCCACGTCCACCTACGTCCTCC
AGGAGGCATCTCACAACGTCCCCAACCAGAGTTCCGAGTCACTTGCTGGTGAATACAACACACA
CAATGGACCTTCCACACCAGCGAAAGAGGGAGACACAGACAGGCCGCACCGGGCCTCCGACGGG
AAGCTCCGAGGCCGGTCTAAGAGGAGCAGTGACCCGTCCCCGGCAGGGGACAATGAGATTGAGC
GTGTGTTCGTGTGGGACTTGGATGAGACAATAATTATTTTTCACTCCTTACTCACGGGGACATT
TGCATCCAGATACGGGAAGGACACCACGACGTCCGTGCGCATTGGCCTTATGATGGAAGAGATG
ATCTTCAACCTTGCAGATACACATCTGTTCTTCAATGACCTGGAGGATTGTGACCAGATCCACG
TTGATGACGTCTCATCAGATGACAATGGCCAAGATTTAAGCACATACAACTTCTCCGCTGACGG
CTTCCACAGTTCGGCCCCAGGAGCCAACCTGTGCCTGGGCTCTGGCGTGCACGGCGGCGTGGAC
TGGATGAGGAAGCTGGCCTTCCGCTACCGGCGGGTGAAGGAGATGTACAATACCTACAAGAACA
ACGTTGGTGGGAAGGAGAGCTGCTTCGAGAGGATAATGCAGAGATTCGGCAGAAAAGCTGTCTA
CGTGGTGATCGGTGATGGTGTGGAAGAGGAGCAAGGAGCGAAAAAGCACAACATGCCTTTCTGG
CGGATATCCTGCCACGCAGACCTGGAGGCACTGAGGCACGCCCTGGAGCTGGAGTATTTATAGC
AGGATCAGCAGCATCTCCACCTGCCATCTCACCCTCAGACCCCCTCGCCTTCCCCACCTCCCCA
CCGAGAACTCCAGAGACCCAGATGTTGGACACCAGGAAGGGGCCCCACAGCCGAGACGACGTGT
CCAGTGACCATCTCAGAAGCCGTCCATCAGTCCAAATGGGGGTTCTGAGAAGGAAAGTACCCAA
CATTGGCTTCGGAGTATTTGACTTTGGGGAAAAGGGCTGGCTCGGAGTCTAGACTCTTCTGTAA
GACTCACAGAACAAAAGCAAGGAATTGCTGATTTGGGGGGTGCCTGGTGATGAGGAGGGGATGG
GTTTGTCTTGTCTTCTTTTTAATTTATGGACTAGTCTCATTACTCCGGAATTATGCTCTTGTAC
CTGTGTGGCTGGGTTTCTTAGTCGTTGGTTTGGTTTGGTTTTTTGAACTGGTATGTGGGGTGGT
TCACAGTTCTAATGTAAGCACTCTATTCTCCAAGTTGTGCTTTGTGGGGACAATCATTCTTTGA
ACATTAGAGAGGAAGGCAGTTCAAGCTGTTGAAAAGACTATTGCTTATTTTTGTTTTTAAAGAC
CTACTTGACGTCATGTGGACAGTGCACGTGCCTTACGCTACATCTTGTTTTCTAGGAAGAGGGG
GATGCTGGGAAGGAATGGGTGCTTTGTGATGGATAAAAGGCATTAAATAAAACCACGTTTACAT
TTTGAA

hide sequence

RefSeq Acc Id:

XM_005260327 ⟹ XP_005260384

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	20	46,894,843 - 47,188,844 (+)	NCBI
GRCh37	20	45,523,263 - 45,817,492 (+)	NCBI

Sequence:

show sequence

CGCACCGGCCCGCCCGCCCGCCCGCACCGCGTCGGGGCGCCCTCTCCACTGCGCGCGGTACAAG
GAAATGGTAGAACTAGTGATCTCACCCAGCCTCACTGTAAACAGCGATTGTCTGGATAAACTGA
AGTTTAACCGTGCTGACGCTGCTGTGTGGACTCTGAGTGACAGACAAGGCATCACCAAATCGGC
CCCCCTGAGAGTGTCCCAGCTCTTCTCCAGATCTTGCCCACGTGTCCTCCCCCGCCAGCCTTCC
ACAGCCATGGCAGCCTACGGCCAGACGCAGTACAGTGCGGGGATCCAGCAGGCTACCCCCTATA
CAGCTTACCCACCTCCAGCACAAGCCTATGGAATCCCTTCCTACAGCATCAAGACAGAAGACAG
CTTGAACCATTCCCCTGGCCAGAGTGGATTCCTCAGCTATGGCTCCAGCTTCAGCACCTCACCC
ACTGGACAGAGCCCATACACCTACCAGATGCACGGTGAATACAACACACACAATGGACCTTCCA
CACCAGCGAAAGAGGGAGACACAGACAGGCCGCACCGGGCCTCCGACGGGAAGCTCCGAGGCCG
GTCTAAGAGGAGCAGTGACCCGTCCCCGGCAGGGGACAATGAGATTGAGCGTGTGTTCGTGTGG
GACTTGGATGAGACAATAATTATTTTTCACTCCTTACTCACGGGGACATTTGCATCCAGATACG
GGAAGGACACCACGACGTCCGTGCGCATTGGCCTTATGATGGAAGAGATGATCTTCAACCTTGC
AGATACACATCTGTTCTTCAATGACCTGGAGGATTGTGACCAGATCCACGTTGATGACGTCTCA
TCAGATGACAATGGCCAAGATTTAAGCACATACAACTTCTCCGCTGACGGCTTCCACAGTTCGG
CCCCAGGAGCCAACCTGTGCCTGGGCTCTGGCGTGCACGGCGGCGTGGACTGGATGAGGAAGCT
GGCCTTCCGCTACCGGCGGGTGAAGGAGATGTACAATACCTACAAGAACAACGTTGGTGGGTTG
ATAGGCACTCCCAAAAGGGAGACCTGGCTACAGCTCCGAGCTGAGCTGGAAGCTCTCACAGACC
TCTGGCTGACCCACTCCCTGAAGGCACTAAACCTCATCAACTCCCGGCCCAACTGTGTCAATGT
GCTGGTCACCACCACTCAACTAATTCCTGCCCTGGCCAAAGTCCTGCTATATGGCCTGGGGTCT
GTGTTTCCTATTGAGAACATCTACAGTGCAACCAAGACAGGGAAGGAGAGCTGCTTCGAGAGGA
TAATGCAGAGATTCGGCAGAAAAGCTGTCTACGTGGTGATCGGTGATGGTGTGGAAGAGGAGCA
AGGAGCGAAAAAGCACAACATGCCTTTCTGGCGGATATCCTGCCACGCAGACCTGGAGGCACTG
AGGCACGCCCTGGAGCTGGAGTATTTATAGCAGGATCAGCAGCATCTCCACCTGCCATCTCACC
CTCAGACCCCCTCGCCTTCCCCACCTCCCCACCGAGAACTCCAGAGACCCAGATGTTGGACACC
AGGAAGGGGCCCCACAGCCGAGACGACGTGTCCAGTGACCATCTCAGAAGCCGTCCATCAGTCC
AAATGGGGGTTCTGAGAAGGAAAGTACCCAACATTGGCTTCGGAGTATTTGACTTTGGGGAAAA
GGGCTGGCTCGGAGTCTAGACTCTTCTGTAAGACTCACAGAACAAAAGCAAGGAATTGCTGATT
TGGGGGGTGCCTGGTGATGAGGAGGGGATGGGTTTGTCTTGTCTTCTTTTTAATTTATGGACTA
GTCTCATTACTCCGGAATTATGCTCTTGTACCTGTGTGGCTGGGTTTCTTAGTCGTTGGTTTGG
TTTGGTTTTTTGAACTGGTATGTGGGGTGGTTCACAGTTCTAATGTAAGCACTCTATTCTCCAA
GTTGTGCTTTGTGGGGACAATCATTCTTTGAACATTAGAGAGGAAGGCAGTTCAAGCTGTTGAA
AAGACTATTGCTTATTTTTGTTTTTAAAGACCTACTTGACGTCATGTGGACAGTGCACGTGCCT
TACGCTACATCTTGTTTTCTAGGAAGAGGGGGATGCTGGGAAGGAATGGGTGCTTTGTGATGGA
TAAAAGGCATTAAATAAAACCACGTTTACATTTTGAA

hide sequence

RefSeq Acc Id:

XM_017027721 ⟹ XP_016883210

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	20	46,894,843 - 47,188,844 (+)	NCBI

Sequence:

show sequence

AGACAGCAACGTGCCCGCCGCAGTCAGCCCGGCCTCGTCGGACCCGCACCGGCCCGCCCGCCCG
CCCGCACCGCGTCGGGGCGCCCTCTCCACTGCGCGCGGTACAAGGAAATGGTAGAACTAGTGAT
CTCACCCAGCCTCACTGTAAACAGCGATTGTCTGGATAAACTGAAGTTTAACCGTGCTGACGCT
GCTGTGTGGACTCTGAGTGACAGACAAGGCATCACCAAATCGGCCCCCCTGAGAGTGTCCCAGC
TCTTCTCCAGATCTTGCCCACGTGTCCTCCCCCGCCAGCCTTCCACAGCCATGGCAGCCTACGG
CCAGACGCAGTACAGTGCGGGGATCCAGCAGGCTACCCCCTATACAGCTTACCCACCTCCAGCA
CAAGCCTATGGAATCCCTTCCTACAGCATCAAGACAGAAGACAGCTTGAACCATTCCCCTGGCC
AGAGTGGATTCCTCAGCTATGGCTCCAGCTTCAGCACCTCACCCACTGGACAGAGCCCATACAC
CTACCAGATGCACGGCACAACAGGGTTCTATCAAGGAGGAAATGGACTGGGCAACGCAGCCGGT
TTCGGGAGTGTGCACCAGGACTATCCTTCCTACCCCGGCTTCCCCCAGAGCCAGTACCCCCAGT
ATTACGGCTCATCCTACAACCCTCCCTACGTCCCGGCCAGCAGCATCTGCCCTTCGCCCCTCTC
CACGTCCACCTACGTCCTCCAGGAGGCATCTCACAACGTCCCCAACCAGAGTTCCGAGTCACTT
GCTGGTGAATACAACACACACAATGGACCTTCCACACCAGCGAAAGAGGGAGACACAGACAGGC
CGCACCGGGCCTCCGACGGGAAGCTCCGAGGCCGGTCTAAGAGGAGCAGTGACCCGTCCCCGGC
AGGGGACAATGAGATTGAGCGTGTGTTCGTGTGGGACTTGGATGAGACAATAATTATTTTTCAC
TCCTTACTCACGGGGACATTTGCATCCAGATACGGGAAGGATTGTGACCAGATCCACGTTGATG
ACGTCTCATCAGATGACAATGGCCAAGATTTAAGCACATACAACTTCTCCGCTGACGGCTTCCA
CAGTTCGGCCCCAGGAGCCAACCTGTGCCTGGGCTCTGGCGTGCACGGCGGCGTGGACTGGATG
AGGAAGCTGGCCTTCCGCTACCGGCGGGTGAAGGAGATGTACAATACCTACAAGAACAACGTTG
GTGGGTTGATAGGCACTCCCAAAAGGGAGACCTGGCTACAGCTCCGAGCTGAGCTGGAAGCTCT
CACAGACCTCTGGCTGACCCACTCCCTGAAGGCACTAAACCTCATCAACTCCCGGCCCAACTGT
GTCAATGTGCTGGTCACCACCACTCAACTAATTCCTGCCCTGGCCAAAGTCCTGCTATATGGCC
TGGGGTCTGTGTTTCCTATTGAGAACATCTACAGTGCAACCAAGACAGGGAAGGAGAGCTGCTT
CGAGAGGATAATGCAGAGATTCGGCAGAAAAGCTGTCTACGTGGTGATCGGTGATGGTGTGGAA
GAGGAGCAAGGAGCGAAAAAGCACAACATGCCTTTCTGGCGGATATCCTGCCACGCAGACCTGG
AGGCACTGAGGCACGCCCTGGAGCTGGAGTATTTATAGCAGGATCAGCAGCATCTCCACCTGCC
ATCTCACCCTCAGACCCCCTCGCCTTCCCCACCTCCCCACCGAGAACTCCAGAGACCCAGATGT
TGGACACCAGGAAGGGGCCCCACAGCCGAGACGACGTGTCCAGTGACCATCTCAGAAGCCGTCC
ATCAGTCCAAATGGGGGTTCTGAGAAGGAAAGTACCCAACATTGGCTTCGGAGTATTTGACTTT
GGGGAAAAGGGCTGGCTCGGAGTCTAGACTCTTCTGTAAGACTCACAGAACAAAAGCAAGGAAT
TGCTGATTTGGGGGGTGCCTGGTGATGAGGAGGGGATGGGTTTGTCTTGTCTTCTTTTTAATTT
ATGGACTAGTCTCATTACTCCGGAATTATGCTCTTGTACCTGTGTGGCTGGGTTTCTTAGTCGT
TGGTTTGGTTTGGTTTTTTGAACTGGTATGTGGGGTGGTTCACAGTTCTAATGTAAGCACTCTA
TTCTCCAAGTTGTGCTTTGTGGGGACAATCATTCTTTGAACATTAGAGAGGAAGGCAGTTCAAG
CTGTTGAAAAGACTATTGCTTATTTTTGTTTTTAAAGACCTACTTGACGTCATGTGGACAGTGC
ACGTGCCTTACGCTACATCTTGTTTTCTAGGAAGAGGGGGATGCTGGGAAGGAATGGGTGCTTT
GTGATGGATAAAAGGCATTAAATAAAACCACGTTTACATTTTGAA

hide sequence

RefSeq Acc Id:

XM_047440010 ⟹ XP_047295966

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	20	46,945,937 - 47,188,844 (+)	NCBI

RefSeq Acc Id:

XM_054323191 ⟹ XP_054179166

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	20	48,632,937 - 48,926,940 (+)	NCBI

RefSeq Acc Id:

XM_054323192 ⟹ XP_054179167

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	20	48,632,937 - 48,926,940 (+)	NCBI

Protein Sequences


Protein RefSeqs	NP_005235	(Get FASTA)	NCBI Sequence Viewer
	NP_742108	(Get FASTA)	NCBI Sequence Viewer
	XP_005260384	(Get FASTA)	NCBI Sequence Viewer
	XP_016883210	(Get FASTA)	NCBI Sequence Viewer
	XP_047295966	(Get FASTA)	NCBI Sequence Viewer
	XP_054179166	(Get FASTA)	NCBI Sequence Viewer
	XP_054179167	(Get FASTA)	NCBI Sequence Viewer
GenBank Protein	AAB42065	(Get FASTA)	NCBI Sequence Viewer
	AAB51120	(Get FASTA)	NCBI Sequence Viewer
	AAC09362	(Get FASTA)	NCBI Sequence Viewer
	AAH00289	(Get FASTA)	NCBI Sequence Viewer
	AAH08803	(Get FASTA)	NCBI Sequence Viewer
	AAH13882	(Get FASTA)	NCBI Sequence Viewer
	AAK62466	(Get FASTA)	NCBI Sequence Viewer
	AAK62467	(Get FASTA)	NCBI Sequence Viewer
	AAL57874	(Get FASTA)	NCBI Sequence Viewer
	AAL57875	(Get FASTA)	NCBI Sequence Viewer
	AAL57876	(Get FASTA)	NCBI Sequence Viewer
	AAL57877	(Get FASTA)	NCBI Sequence Viewer
	AAL57878	(Get FASTA)	NCBI Sequence Viewer
	AAP35328	(Get FASTA)	NCBI Sequence Viewer
	AAU11525	(Get FASTA)	NCBI Sequence Viewer
	BAF85721	(Get FASTA)	NCBI Sequence Viewer
	CAA07815	(Get FASTA)	NCBI Sequence Viewer
	CAA71310	(Get FASTA)	NCBI Sequence Viewer
	CAI23166	(Get FASTA)	NCBI Sequence Viewer
	EAW75720	(Get FASTA)	NCBI Sequence Viewer
	EAW75721	(Get FASTA)	NCBI Sequence Viewer
	EAW75722	(Get FASTA)	NCBI Sequence Viewer
Ensembl Protein	ENSP00000321590.6
	ENSP00000333640
	ENSP00000333640.5
	ENSP00000349986
	ENSP00000349986.3
	ENSP00000395427.1
	ENSP00000417105.3
	ENSP00000483392
	ENSP00000483392.1
GenBank Protein	O00167	(Get FASTA)	NCBI Sequence Viewer

RefSeq Acc Id:	NP_005235 ⟸ NM_005244
- Peptide Label:	isoform a
- UniProtKB:	Q9NPZ4 (UniProtKB/Swiss-Prot), Q9H4S9 (UniProtKB/Swiss-Prot), Q9H4S3 (UniProtKB/Swiss-Prot), Q9BWF6 (UniProtKB/Swiss-Prot), Q99812 (UniProtKB/Swiss-Prot), Q99503 (UniProtKB/Swiss-Prot), Q96H97 (UniProtKB/Swiss-Prot), Q96CV6 (UniProtKB/Swiss-Prot), Q86U84 (UniProtKB/Swiss-Prot), Q5JSW8 (UniProtKB/Swiss-Prot), Q9UIX7 (UniProtKB/Swiss-Prot), O00167 (UniProtKB/Swiss-Prot), A8KAG7 (UniProtKB/TrEMBL)
- Sequence:	show sequence MVELVISPSLTVNSDCLDKLKFNRADAAVWTLSDRQGITKSAPLRVSQLFSRSCPRVLPRQPST AMAAYGQTQYSAGIQQATPYTAYPPPAQAYGIPSYSIKTEDSLNHSPGQSGFLSYGSSFSTSPT GQSPYTYQMHGTTGFYQGGNGLGNAAGFGSVHQDYPSYPGFPQSQYPQYYGSSYNPPYVPASSI CPSPLSTSTYVLQEASHNVPNQSSESLAGEYNTHNGPSTPAKEGDTDRPHRASDGKLRGRSKRS SDPSPAGDNEIERVFVWDLDETIIIFHSLLTGTFASRYGKDTTTSVRIGLMMEEMIFNLADTHL FFNDLEDCDQIHVDDVSSDDNGQDLSTYNFSADGFHSSAPGANLCLGSGVHGGVDWMRKLAFRY RRVKEMYNTYKNNVGGLIGTPKRETWLQLRAELEALTDLWLTHSLKALNLINSRPNCVNVLVTT TQLIPALAKVLLYGLGSVFPIENIYSATKTGKESCFERIMQRFGRKAVYVVIGDGVEEEQGAKK HNMPFWRISCHADLEALRHALELEYL hide sequence

RefSeq Acc Id:	NP_742108 ⟸ NM_172110
- Peptide Label:	isoform c
- UniProtKB:	A8KAG7 (UniProtKB/TrEMBL)
- Sequence:	show sequence MVELVISPSLTVNSDCLDKLKFNRADAAVWTLSDRQGITKSAPLRVSQLFSRSCPRVLPRQPST AMAAYGQTQYSAGIQQATPYTAYPPPAQAYGIPSYSIKTEDSLNHSPGQSGFLSYGSSFSTSPT GQSPYTYQMHGTTGFYQGGNGLGNAAGFGSVHQDYPSYPGFPQSQYPQYYGSSYNPPYVPASSI CPSPLSTSTYVLQEASHNVPNQSSESLAGEYNTHNGPSTPAKEGDTDRPHRASDGKLRGRSKRS SDPSPAGDNEIERVFVWDLDETIIIFHSLLTGTFASRYGKDTTTSVRIGLMMEEMIFNLADTHL FFNDLEDCDQIHVDDVSSDDNGQDLSTYNFSADGFHSSAPGANLCLGSGVHGGVDWMRKLAFRY RRVKEMYNTYKNNVGGKESCFERIMQRFGRKAVYVVIGDGVEEEQGAKKHNMPFWRISCHADLE ALRHALELEYL hide sequence

RefSeq Acc Id:	XP_005260384 ⟸ XM_005260327
- Peptide Label:	isoform X3
- UniProtKB:	A8KAG7 (UniProtKB/TrEMBL)
- Sequence:	show sequence MVELVISPSLTVNSDCLDKLKFNRADAAVWTLSDRQGITKSAPLRVSQLFSRSCPRVLPRQPST AMAAYGQTQYSAGIQQATPYTAYPPPAQAYGIPSYSIKTEDSLNHSPGQSGFLSYGSSFSTSPT GQSPYTYQMHGEYNTHNGPSTPAKEGDTDRPHRASDGKLRGRSKRSSDPSPAGDNEIERVFVWD LDETIIIFHSLLTGTFASRYGKDTTTSVRIGLMMEEMIFNLADTHLFFNDLEDCDQIHVDDVSS DDNGQDLSTYNFSADGFHSSAPGANLCLGSGVHGGVDWMRKLAFRYRRVKEMYNTYKNNVGGLI GTPKRETWLQLRAELEALTDLWLTHSLKALNLINSRPNCVNVLVTTTQLIPALAKVLLYGLGSV FPIENIYSATKTGKESCFERIMQRFGRKAVYVVIGDGVEEEQGAKKHNMPFWRISCHADLEALR HALELEYL hide sequence

RefSeq Acc Id:	XP_016883210 ⟸ XM_017027721
- Peptide Label:	isoform X2
- UniProtKB:	E7ETN2 (UniProtKB/TrEMBL), Q66T69 (UniProtKB/TrEMBL)
- Sequence:	show sequence MVELVISPSLTVNSDCLDKLKFNRADAAVWTLSDRQGITKSAPLRVSQLFSRSCPRVLPRQPST AMAAYGQTQYSAGIQQATPYTAYPPPAQAYGIPSYSIKTEDSLNHSPGQSGFLSYGSSFSTSPT GQSPYTYQMHGTTGFYQGGNGLGNAAGFGSVHQDYPSYPGFPQSQYPQYYGSSYNPPYVPASSI CPSPLSTSTYVLQEASHNVPNQSSESLAGEYNTHNGPSTPAKEGDTDRPHRASDGKLRGRSKRS SDPSPAGDNEIERVFVWDLDETIIIFHSLLTGTFASRYGKDCDQIHVDDVSSDDNGQDLSTYNF SADGFHSSAPGANLCLGSGVHGGVDWMRKLAFRYRRVKEMYNTYKNNVGGLIGTPKRETWLQLR AELEALTDLWLTHSLKALNLINSRPNCVNVLVTTTQLIPALAKVLLYGLGSVFPIENIYSATKT GKESCFERIMQRFGRKAVYVVIGDGVEEEQGAKKHNMPFWRISCHADLEALRHALELEYL hide sequence

RefSeq Acc Id:

ENSP00000483392 ⟸ ENST00000611592

RefSeq Acc Id:

ENSP00000417105 ⟸ ENST00000497062

RefSeq Acc Id:

ENSP00000395427 ⟸ ENST00000458636

RefSeq Acc Id:

ENSP00000333640 ⟸ ENST00000327619

RefSeq Acc Id:

ENSP00000321590 ⟸ ENST00000317304

RefSeq Acc Id:

ENSP00000349986 ⟸ ENST00000357410

RefSeq Acc Id:	XP_047295966 ⟸ XM_047440010
- Peptide Label:	isoform X1
- UniProtKB:	Q9NPZ4 (UniProtKB/Swiss-Prot), Q9H4S9 (UniProtKB/Swiss-Prot), Q9H4S3 (UniProtKB/Swiss-Prot), Q9BWF6 (UniProtKB/Swiss-Prot), Q99812 (UniProtKB/Swiss-Prot), Q99503 (UniProtKB/Swiss-Prot), Q96H97 (UniProtKB/Swiss-Prot), Q96CV6 (UniProtKB/Swiss-Prot), Q86U84 (UniProtKB/Swiss-Prot), Q5JSW8 (UniProtKB/Swiss-Prot), O00167 (UniProtKB/Swiss-Prot), Q9UIX7 (UniProtKB/Swiss-Prot)

RefSeq Acc Id:	XP_054179166 ⟸ XM_054323191
- Peptide Label:	isoform X2
- UniProtKB:	E7ETN2 (UniProtKB/TrEMBL)

RefSeq Acc Id:	XP_054179167 ⟸ XM_054323192
- Peptide Label:	isoform X3

Protein Structures

Name	Modeler	Protein Id	AA Range	Protein Structure
AF-O00167-F1-model_v2	AlphaFold	O00167	1-538	view protein structure

Promoters

RGD ID:

6798767

Promoter ID:

HG_KWN:39702

Type:

CpG-Island

SO ACC ID:

SO:0000170

Source:

MPROMDB

Tissues & Cell Lines:

Lymphoblastoid

Transcripts:

ENST00000317304, OTTHUMT00000080324, OTTHUMT00000080326, UC010GHP.1

Position:

Human Assembly	Chr	Position (strand)	Source
Build 36	20	44,956,561 - 44,957,061 (+)	MPROMDB

RGD ID:

6798768

Promoter ID:

HG_KWN:39706

Type:

Non-CpG

SO ACC ID:

SO:0000170

Source:

MPROMDB

Tissues & Cell Lines:

K562

Transcripts:

UC002XSQ.1

Position:

Human Assembly	Chr	Position (strand)	Source
Build 36	20	45,052,206 - 45,052,706 (+)	MPROMDB

RGD ID:

13207179

Promoter ID:

EPDNEW_H27170

Type:

initiation region

Name:

EYA2_2

Description:

EYA transcriptional coactivator and phosphatase 2

SO ACC ID:

SO:0000170

Source:

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

Alternative Promoters:

null; see alsoEPDNEW_H27171

Experiment Methods:

Single-end sequencing.

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	20	46,894,616 - 46,894,676	EPDNEW

RGD ID:

13207181

Promoter ID:

EPDNEW_H27171

Type:

initiation region

Name:

EYA2_1

Description:

EYA transcriptional coactivator and phosphatase 2

SO ACC ID:

SO:0000170

Source:

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

Alternative Promoters:

null; see alsoEPDNEW_H27170

Experiment Methods:

Single-end sequencing.

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	20	46,894,843 - 46,894,903	EPDNEW

Additional Information

External Database Links

Database	Acc Id	Source(s)
AGR Gene	HGNC:3520	AgrOrtholog
COSMIC	EYA2	COSMIC
Ensembl Genes	ENSG00000064655	Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript	ENST00000317304.10	UniProtKB/TrEMBL
	ENST00000327619	ENTREZGENE
	ENST00000327619.10	UniProtKB/Swiss-Prot
	ENST00000357410	ENTREZGENE
	ENST00000357410.7	UniProtKB/Swiss-Prot
	ENST00000458636.2	UniProtKB/TrEMBL
	ENST00000497062.6	UniProtKB/Swiss-Prot
	ENST00000611592	ENTREZGENE
	ENST00000611592.4	UniProtKB/TrEMBL
Gene3D-CATH	3.40.50.12350	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx	ENSG00000064655	GTEx
HGNC ID	HGNC:3520	ENTREZGENE
Human Proteome Map	EYA2	Human Proteome Map
InterPro	EYA_dom	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	EYA_dom_metazoan	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	EYA_dom_sf	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	EYA_fam	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	HAD-like_sf	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report	hsa:2139	UniProtKB/Swiss-Prot
NCBI Gene	2139	ENTREZGENE
OMIM	601654	OMIM
PANTHER	PTHR10190	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	PTHR10190:SF7	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam	Hydrolase	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB	PA27932	PharmGKB
Superfamily-SCOP	SSF56784	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt	A8KAG7	ENTREZGENE, UniProtKB/TrEMBL
	B1AKW3_HUMAN	UniProtKB/TrEMBL
	E7ETN2	ENTREZGENE, UniProtKB/TrEMBL
	EYA2_HUMAN	UniProtKB/Swiss-Prot
	L0R6G3_HUMAN	UniProtKB/TrEMBL
	O00167	ENTREZGENE
	Q5JSW8	ENTREZGENE
	Q66T69	ENTREZGENE, UniProtKB/TrEMBL
	Q86U84	ENTREZGENE
	Q8WXB5_HUMAN	UniProtKB/TrEMBL
	Q96CV6	ENTREZGENE
	Q96H97	ENTREZGENE
	Q96J96_HUMAN	UniProtKB/TrEMBL
	Q96J97_HUMAN	UniProtKB/TrEMBL
	Q99503	ENTREZGENE
	Q99812	ENTREZGENE
	Q9BWF6	ENTREZGENE
	Q9H4S3	ENTREZGENE
	Q9H4S9	ENTREZGENE
	Q9NPZ4	ENTREZGENE
	Q9UIX7	ENTREZGENE
UniProt Secondary	Q5JSW8	UniProtKB/Swiss-Prot
	Q86U84	UniProtKB/Swiss-Prot
	Q96CV6	UniProtKB/Swiss-Prot
	Q96H97	UniProtKB/Swiss-Prot
	Q99503	UniProtKB/Swiss-Prot
	Q99812	UniProtKB/Swiss-Prot
	Q9BWF6	UniProtKB/Swiss-Prot
	Q9H4S3	UniProtKB/Swiss-Prot
	Q9H4S9	UniProtKB/Swiss-Prot
	Q9NPZ4	UniProtKB/Swiss-Prot
	Q9UIX7	UniProtKB/Swiss-Prot

Nomenclature History

Date	Current Symbol	Current Name	Previous Symbol	Previous Name	Description	Reference	Status
2014-06-24	EYA2	EYA transcriptional coactivator and phosphatase 2	EYA2	eyes absent homolog 2 (Drosophila)	Symbol and/or name change	5135510	APPROVED

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

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

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

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

Imported Disease Annotations - ClinVar

Imported Human Phenotype Annotations - ClinVar

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Imported Disease Annotations - ClinVar

Imported Human Phenotype Annotations - ClinVar