EYA2 (EYA transcriptional coactivator and phosphatase 2) - Rat Genome Database

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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 apoptotic signaling pathway; protein dephosphorylation; 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
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh382046,894,843 - 47,188,844 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl2046,894,624 - 47,188,844 (+)EnsemblGRCh38hg38GRCh38
GRCh372045,523,482 - 45,817,492 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 362044,956,916 - 45,250,899 (+)NCBINCBI36Build 36hg18NCBI36
Build 342045,040,280 - 45,250,897NCBI
Celera2042,236,954 - 42,531,188 (+)NCBICelera
Cytogenetic Map20q13.12NCBI
HuRef2042,266,395 - 42,561,039 (+)NCBIHuRef
CHM1_12045,426,259 - 45,720,382 (+)NCBICHM1_1
T2T-CHM13v2.02048,632,937 - 48,926,940 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

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)
Butylbenzyl phthalate  (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)
dibutyl phthalate  (ISO)
diethyl phthalate  (ISO)
diisobutyl phthalate  (ISO)
diisononyl phthalate  (ISO)
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

Cellular Component
cytoplasm  (IEA)
cytosol  (IDA)
mitochondrion  (IEA)
nucleolus  (ISO)
nucleoplasm  (TAS)
nucleus  (IBA,IEA)

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
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:37448957   PMID:37486991  


Genomics

Comparative Map Data
EYA2
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh382046,894,843 - 47,188,844 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl2046,894,624 - 47,188,844 (+)EnsemblGRCh38hg38GRCh38
GRCh372045,523,482 - 45,817,492 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 362044,956,916 - 45,250,899 (+)NCBINCBI36Build 36hg18NCBI36
Build 342045,040,280 - 45,250,897NCBI
Celera2042,236,954 - 42,531,188 (+)NCBICelera
Cytogenetic Map20q13.12NCBI
HuRef2042,266,395 - 42,561,039 (+)NCBIHuRef
CHM1_12045,426,259 - 45,720,382 (+)NCBICHM1_1
T2T-CHM13v2.02048,632,937 - 48,926,940 (+)NCBIT2T-CHM13v2.0
Eya2
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm392165,436,892 - 165,613,645 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl2165,436,952 - 165,613,647 (+)EnsemblGRCm39 Ensembl
GRCm382165,595,028 - 165,771,727 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl2165,595,032 - 165,771,727 (+)EnsemblGRCm38mm10GRCm38
MGSCv372165,480,798 - 165,597,131 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv362165,346,503 - 165,462,836 (+)NCBIMGSCv36mm8
Celera2171,595,465 - 171,708,914 (+)NCBICelera
Cytogenetic Map2H3NCBI
cM Map285.83NCBI
Eya2
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr83174,754,772 - 174,938,035 (+)NCBIGRCr8
mRatBN7.23154,335,598 - 154,519,006 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl3154,335,400 - 154,518,793 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx3158,214,097 - 158,322,360 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.03166,713,095 - 166,821,357 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.03164,454,709 - 164,562,989 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.03162,285,275 - 162,470,642 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl3162,346,490 - 162,470,065 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.03168,527,052 - 168,647,898 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.43156,731,490 - 156,848,691 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.13156,685,847 - 156,746,476 (+)NCBI
Celera3153,000,284 - 153,109,100 (+)NCBICelera
Cytogenetic Map3q42NCBI
Eya2
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495544510,369,514 - 10,603,953 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495544510,368,869 - 10,520,246 (-)NCBIChiLan1.0ChiLan1.0
EYA2
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v22152,629,651 - 52,923,413 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan12052,622,756 - 52,916,518 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v02043,226,621 - 43,520,301 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.12044,310,517 - 44,603,846 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl2044,310,451 - 44,607,468 (+)Ensemblpanpan1.1panPan2
EYA2
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.12434,126,086 - 34,308,412 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl2434,082,197 - 34,308,423 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha2433,504,631 - 33,767,623 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.02434,753,206 - 35,017,240 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl2434,802,105 - 35,017,234 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.12434,009,635 - 34,272,364 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.02434,127,141 - 34,390,163 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.02434,666,914 - 34,930,928 (+)NCBIUU_Cfam_GSD_1.0
Eya2
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024408640190,770,099 - 190,949,251 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049365146,223,719 - 6,341,326 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049365146,223,745 - 6,401,985 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
EYA2
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1748,966,814 - 49,243,739 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11748,930,682 - 49,243,789 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21754,833,230 - 55,078,393 (+)NCBISscrofa10.2Sscrofa10.2susScr3
EYA2
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1216,717,300 - 17,001,893 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl216,717,291 - 17,001,703 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366605065,351,749 - 65,637,914 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Eya2
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046247907,620,756 - 7,775,933 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046247907,620,935 - 7,852,072 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in EYA2
99 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.853T>A (p.Leu285Ile) single nucleotide variant EBV-positive nodal T- and NK-cell lymphoma [RCV004560259] Chr20:47097133 [GRCh38]
Chr20:45725772 [GRCh37]
Chr20:20q13.12		 likely benign
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
NM_005244.5(EYA2):c.1084G>A (p.Ala362Thr) single nucleotide variant not specified [RCV004623012] Chr20:47172753 [GRCh38]
Chr20:45801401 [GRCh37]
Chr20:20q13.12		 likely benign
NM_005244.5(EYA2):c.1188C>G (p.Asn396Lys) single nucleotide variant not specified [RCV004623011] Chr20:47172857 [GRCh38]
Chr20:45801505 [GRCh37]
Chr20:20q13.12		 uncertain significance
NM_005244.5(EYA2):c.1073C>T (p.Ser358Leu) single nucleotide variant not specified [RCV004918357] Chr20:47172742 [GRCh38]
Chr20:45801390 [GRCh37]
Chr20:20q13.12		 uncertain significance
NM_005244.5(EYA2):c.1280A>T (p.His427Leu) single nucleotide variant not specified [RCV004918360] Chr20:47179879 [GRCh38]
Chr20:45808527 [GRCh37]
Chr20:20q13.12		 uncertain significance
NM_005244.5(EYA2):c.779C>G (p.Ser260Cys) single nucleotide variant not specified [RCV004918361] Chr20:47089356 [GRCh38]
Chr20:45717995 [GRCh37]
Chr20:20q13.12		 uncertain significance
NM_005244.5(EYA2):c.78C>A (p.Asp26Glu) single nucleotide variant not specified [RCV004918364] Chr20:46990088 [GRCh38]
Chr20:45618727 [GRCh37]
Chr20:20q13.12		 uncertain significance
NM_005244.5(EYA2):c.451G>A (p.Gly151Ser) single nucleotide variant not specified [RCV004918365] Chr20:47072220 [GRCh38]
Chr20:45700859 [GRCh37]
Chr20:20q13.12		 uncertain significance
NM_005244.5(EYA2):c.1303A>G (p.Ile435Val) single nucleotide variant not specified [RCV004918366] Chr20:47179902 [GRCh38]
Chr20:45808550 [GRCh37]
Chr20:20q13.12		 uncertain significance
NM_005244.5(EYA2):c.728G>A (p.Arg243Gln) single nucleotide variant not specified [RCV004918358] Chr20:47089305 [GRCh38]
Chr20:45717944 [GRCh37]
Chr20:20q13.12		 uncertain significance
NM_005244.5(EYA2):c.110G>A (p.Gly37Asp) single nucleotide variant not specified [RCV004918359] Chr20:47001428 [GRCh38]
Chr20:45630067 [GRCh37]
Chr20:20q13.12		 uncertain significance
NM_005244.5(EYA2):c.1193T>G (p.Val398Gly) single nucleotide variant not specified [RCV004918363] Chr20:47172862 [GRCh38]
Chr20:45801510 [GRCh37]
Chr20:20q13.12		 uncertain significance
miRNA Target Status (No longer updated)

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.


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
597294992GWAS1391066_Htype 2 diabetes mellitus QTL GWAS1391066 (human)3e-10type 2 diabetes mellitus204696201946962020Human
597250965GWAS1347039_HBMI-adjusted hip circumference QTL GWAS1347039 (human)2e-11BMI-adjusted hip circumferencehip circumference (CMO:0000014)204691551046915511Human
597250964GWAS1347038_HBMI-adjusted hip circumference QTL GWAS1347038 (human)4e-18BMI-adjusted hip circumferencehip circumference (CMO:0000014)204691586546915866Human
597250967GWAS1347041_HBMI-adjusted hip circumference QTL GWAS1347041 (human)4e-13BMI-adjusted hip circumferencehip circumference (CMO:0000014)204694679246946793Human
597250966GWAS1347040_HBMI-adjusted hip circumference QTL GWAS1347040 (human)5e-10BMI-adjusted hip circumferencehip circumference (CMO:0000014)204690628046906281Human
597025671GWAS1121745_Htriglyceride measurement QTL GWAS1121745 (human)0.000003triglyceride measurementblood triglyceride level (CMO:0000118)204697560146975602Human
596962176GWAS1081695_Hmetabolic syndrome QTL GWAS1081695 (human)5e-13metabolic syndrome204697560146975602Human
597270415GWAS1366489_HBMI-adjusted waist circumference QTL GWAS1366489 (human)2e-08body size trait (VT:0100005)204693978446939785Human
597270414GWAS1366488_HBMI-adjusted waist circumference QTL GWAS1366488 (human)4e-09body size trait (VT:0100005)204691061246910613Human
597254585GWAS1350659_HBMI-adjusted waist-hip ratio QTL GWAS1350659 (human)1e-08body size trait (VT:0100005)204691521846915219Human
597087159GWAS1183233_Hallergic disease, age at onset QTL GWAS1183233 (human)4e-09allergic disease204706114447061145Human
597254587GWAS1350661_HBMI-adjusted waist-hip ratio QTL GWAS1350661 (human)3e-14body size trait (VT:0100005)204693978446939785Human
597254586GWAS1350660_HBMI-adjusted waist-hip ratio QTL GWAS1350660 (human)3e-11body size trait (VT:0100005)204693886746938868Human
597019071GWAS1115145_HBMI-adjusted waist-hip ratio QTL GWAS1115145 (human)0.000003body size trait (VT:0100005)204690979546909796Human
597324726GWAS1420800_Hcup-to-disc ratio measurement QTL GWAS1420800 (human)1e-10cup-to-disc ratio measurement204716861147168612Human
596953017GWAS1072536_Hbone density QTL GWAS1072536 (human)7e-12bone density204697086946970870Human
597247403GWAS1343477_HBMI-adjusted waist-hip ratio QTL GWAS1343477 (human)3e-21body size trait (VT:0100005)204689500046895001Human
597588396GWAS1645256_Hglucose measurement QTL GWAS1645256 (human)7e-12glucose measurementblood glucose level (CMO:0000046)204697560146975602Human
1300007BP29_HBlood pressure QTL 29 (human)Blood pressurehypertension susceptibility203653600562536005Human
597247405GWAS1343479_HBMI-adjusted waist-hip ratio QTL GWAS1343479 (human)9e-13body size trait (VT:0100005)204692881246928813Human
597247404GWAS1343478_HBMI-adjusted waist-hip ratio QTL GWAS1343478 (human)3e-16body size trait (VT:0100005)204690348346903484Human
597247406GWAS1343480_HBMI-adjusted waist-hip ratio QTL GWAS1343480 (human)2e-08body size trait (VT:0100005)204691521846915219Human
406992506GWAS641482_Hreticulocyte count QTL GWAS641482 (human)3e-09reticulocyte quantity (VT:0003135)total reticulocyte count (CMO:0003020)204690628046906281Human
597019053GWAS1115127_HBMI-adjusted waist-hip ratio QTL GWAS1115127 (human)0.000005body size trait (VT:0100005)204690979546909796Human
597308323GWAS1404397_HBMI-adjusted hip circumference QTL GWAS1404397 (human)3e-14BMI-adjusted hip circumferencehip circumference (CMO:0000014)204696062046960621Human
597308321GWAS1404395_HBMI-adjusted hip circumference QTL GWAS1404395 (human)2e-11BMI-adjusted hip circumferencehip circumference (CMO:0000014)204694679246946793Human
597308326GWAS1404400_HBMI-adjusted hip circumference QTL GWAS1404400 (human)1e-11BMI-adjusted hip circumferencehip circumference (CMO:0000014)204697339846973399Human
407050878GWAS699854_Hlysophosphatidylcholine 20:4 measurement QTL GWAS699854 (human)0.000003glycerophosphocholine amount (VT:0011004)204704457447044575Human
407073917GWAS722893_Htriglyceride measurement, alcohol drinking QTL GWAS722893 (human)3e-08triglyceride measurement, alcohol drinkingblood triglyceride level (CMO:0000118)204697560146975602Human
597147607GWAS1243681_Hbody composition measurement QTL GWAS1243681 (human)2e-20body composition measurement204692881246928813Human
597367767GWAS1463841_Hwaist-hip ratio QTL GWAS1463841 (human)5e-08waist-hip ratiowaist to hip ratio (WHR) (CMO:0000020)204690093246900933Human
597284820GWAS1380894_Hhemoglobin A1 measurement QTL GWAS1380894 (human)4e-18hemoglobin A1 measurement204696890746968908Human
597019610GWAS1115684_HBMI-adjusted waist-hip ratio, sex interaction measurement, age at assessment QTL GWAS1115684 (human)1e-09body size trait (VT:0100005)204690979546909796Human
597163975GWAS1260049_Hnon-alcoholic fatty liver disease QTL GWAS1260049 (human)1e-10non-alcoholic fatty liver disease204692185046921851Human
597263819GWAS1359893_HBMI-adjusted hip circumference QTL GWAS1359893 (human)4e-13BMI-adjusted hip circumferencehip circumference (CMO:0000014)204691424046914241Human
597030342GWAS1126416_Hwaist-hip ratio QTL GWAS1126416 (human)6e-27waist-hip ratiowaist to hip ratio (WHR) (CMO:0000020)204692185046921851Human
597263821GWAS1359895_HBMI-adjusted hip circumference QTL GWAS1359895 (human)9e-10BMI-adjusted hip circumferencehip circumference (CMO:0000014)204692881246928813Human
597263820GWAS1359894_HBMI-adjusted hip circumference QTL GWAS1359894 (human)1e-08BMI-adjusted hip circumferencehip circumference (CMO:0000014)204690628046906281Human
597363661GWAS1459735_HBMI-adjusted waist-hip ratio QTL GWAS1459735 (human)3e-55body size trait (VT:0100005)204690093246900933Human
597263823GWAS1359897_HBMI-adjusted hip circumference QTL GWAS1359897 (human)1e-08BMI-adjusted hip circumferencehip circumference (CMO:0000014)204694679246946793Human
597087182GWAS1183256_Htype 2 diabetes mellitus QTL GWAS1183256 (human)6e-19type 2 diabetes mellitus204696607246966073Human
597163976GWAS1260050_Hnon-alcoholic fatty liver disease QTL GWAS1260050 (human)3e-08non-alcoholic fatty liver disease204697821446978215Human
597030385GWAS1126459_Hwaist-hip ratio QTL GWAS1126459 (human)4e-23waist-hip ratiowaist to hip ratio (WHR) (CMO:0000020)204689748246897483Human
597065714GWAS1161788_HBMI-adjusted waist-hip ratio QTL GWAS1161788 (human)0.000006body size trait (VT:0100005)204693019246930193Human
597156849GWAS1252923_Hsex hormone-binding globulin measurement QTL GWAS1252923 (human)0.0000002sex hormone-binding globulin measurement204696565646965657Human
406949929GWAS598905_HBMI-adjusted waist-hip ratio QTL GWAS598905 (human)6e-11body size trait (VT:0100005)204693019246930193Human
406949928GWAS598904_HBMI-adjusted waist-hip ratio QTL GWAS598904 (human)3e-10body size trait (VT:0100005)204693019246930193Human
597432818GWAS1528892_Hvital capacity QTL GWAS1528892 (human)4e-08vital capacity204690093246900933Human
597207016GWAS1303090_Htype 2 diabetes mellitus QTL GWAS1303090 (human)2e-09type 2 diabetes mellitus204696607246966073Human
597242851GWAS1338925_HBMI-adjusted waist-hip ratio QTL GWAS1338925 (human)2e-28body size trait (VT:0100005)204692123246921233Human
597242853GWAS1338927_HBMI-adjusted waist-hip ratio QTL GWAS1338927 (human)7e-20body size trait (VT:0100005)204694457146944575Human
597242852GWAS1338926_HBMI-adjusted waist-hip ratio QTL GWAS1338926 (human)2e-33body size trait (VT:0100005)204692837846928379Human
597147113GWAS1243187_Htriglyceride measurement QTL GWAS1243187 (human)1e-11triglyceride measurementblood triglyceride level (CMO:0000118)204696773946967740Human
597242855GWAS1338929_HBMI-adjusted waist-hip ratio QTL GWAS1338929 (human)3e-08body size trait (VT:0100005)204709952647099527Human
597147112GWAS1243186_Htriglyceride measurement QTL GWAS1243186 (human)1e-08body size trait (VT:0100005)blood triglyceride level (CMO:0000118)204692185046921851Human
597242854GWAS1338928_HBMI-adjusted waist-hip ratio QTL GWAS1338928 (human)5e-19body size trait (VT:0100005)204696062046960621Human
407070915GWAS719891_Htriglyceride measurement, alcohol drinking QTL GWAS719891 (human)0.0000004triglyceride measurement, alcohol drinkingblood triglyceride level (CMO:0000118)204697560146975602Human
597157140GWAS1253214_Htriglyceride:HDL cholesterol ratio QTL GWAS1253214 (human)3e-11blood triglyceride amount (VT:0002644)204697045146970452Human
596955409GWAS1074928_Hsize QTL GWAS1074928 (human)2e-20size204690380846903810Human
597602067GWAS1658927_Hcalcium measurement QTL GWAS1658927 (human)4e-11calcium measurementblood calcium level (CMO:0000502)204699821246998213Human
597618448GWAS1675308_Htriglyceride measurement QTL GWAS1675308 (human)2e-11triglyceride measurementblood triglyceride level (CMO:0000118)204696420346964204Human
597168904GWAS1264978_HBMI-adjusted waist-hip ratio QTL GWAS1264978 (human)5e-20body size trait (VT:0100005)204694457146944575Human
597168905GWAS1264979_HBMI-adjusted waist-hip ratio QTL GWAS1264979 (human)3e-17body size trait (VT:0100005)204694679246946793Human
597168906GWAS1264980_HBMI-adjusted waist-hip ratio QTL GWAS1264980 (human)4e-19body size trait (VT:0100005)204696062046960621Human
407048912GWAS697888_Hlysophosphatidylcholine 18:2 measurement QTL GWAS697888 (human)0.000005glycerophosphocholine amount (VT:0011004)204704457447044575Human
597168907GWAS1264981_HBMI-adjusted waist-hip ratio QTL GWAS1264981 (human)2e-08body size trait (VT:0100005)204709952647099527Human
597579529GWAS1636389_Hhigh density lipoprotein cholesterol measurement QTL GWAS1636389 (human)5e-12high density lipoprotein cholesterol measurementblood high density lipoprotein cholesterol level (CMO:0000052)204697399946974000Human
597325568GWAS1421642_Hvital capacity QTL GWAS1421642 (human)5e-28vital capacity204690348346903484Human
597579013GWAS1635873_Hhigh density lipoprotein cholesterol measurement QTL GWAS1635873 (human)2e-12high density lipoprotein cholesterol measurementblood high density lipoprotein cholesterol level (CMO:0000052)204696457146964572Human
596953359GWAS1072878_Hrespiratory system disease QTL GWAS1072878 (human)3e-12respiratory system disease204705263947052640Human
597114635GWAS1210709_Hcoffee consumption measurement QTL GWAS1210709 (human)9e-09coffee consumption measurement204718762947187630Human
597168902GWAS1264976_HBMI-adjusted waist-hip ratio QTL GWAS1264976 (human)4e-29body size trait (VT:0100005)204692123246921233Human
597168903GWAS1264977_HBMI-adjusted waist-hip ratio QTL GWAS1264977 (human)7e-34body size trait (VT:0100005)204692837846928379Human
597159222GWAS1255296_Hopen-angle glaucoma QTL GWAS1255296 (human)1e-09open-angle glaucoma204715950447159505Human
597100349GWAS1196423_Hsex hormone-binding globulin measurement QTL GWAS1196423 (human)4e-16sex hormone-binding globulin measurement204692842646928427Human
597618995GWAS1675855_Hglaucoma QTL GWAS1675855 (human)2e-12glaucoma204717581947175820Human
597076281GWAS1172355_Hheel bone mineral density QTL GWAS1172355 (human)7e-10heel bone mineral densitybone mineral density (CMO:0001226)204697690946976911Human
597095725GWAS1191799_Hsex hormone-binding globulin measurement QTL GWAS1191799 (human)2e-09sex hormone-binding globulin measurement204692185046921851Human
597474142GWAS1570216_Hcalcium measurement QTL GWAS1570216 (human)1e-08calcium measurementblood calcium level (CMO:0000502)204699821246998213Human
597186395GWAS1282469_Hpeak expiratory flow QTL GWAS1282469 (human)3e-08peak expiratory flowmaximum mid-expiratory flow (MMEF) (CMO:0000253)204690380846903810Human
597219165GWAS1315239_Hinsulin measurement QTL GWAS1315239 (human)9e-10insulin measurementpancreatic islet insulin release measurement (CMO:0001216)204695383346953834Human
597585746GWAS1642606_Hhigh density lipoprotein cholesterol measurement QTL GWAS1642606 (human)2e-13high density lipoprotein cholesterol measurementblood high density lipoprotein cholesterol level (CMO:0000052)204697399946974000Human
597320020GWAS1416094_Hsmoking initiation QTL GWAS1416094 (human)3e-09smoking initiation204718453647184537Human
597097305GWAS1193379_Hsex hormone-binding globulin measurement QTL GWAS1193379 (human)1e-08sex hormone-binding globulin measurement204696565646965657Human
597315402GWAS1411476_HBMI-adjusted waist circumference QTL GWAS1411476 (human)2e-08body size trait (VT:0100005)204694457146944575Human
406933649GWAS582625_Hheel bone mineral density QTL GWAS582625 (human)5e-45heel bone mineral densitybone mineral density (CMO:0001226)204697578146975782Human
597315401GWAS1411475_HBMI-adjusted waist circumference QTL GWAS1411475 (human)2e-11body size trait (VT:0100005)204692185046921851Human
406933650GWAS582626_Hheel bone mineral density QTL GWAS582626 (human)1e-08heel bone mineral densitybone mineral density (CMO:0001226)204717326947173270Human
406949015GWAS597991_HBMI-adjusted waist-hip ratio QTL GWAS597991 (human)2e-10body size trait (VT:0100005)204693019246930193Human
406949014GWAS597990_HBMI-adjusted waist-hip ratio QTL GWAS597990 (human)6e-10body size trait (VT:0100005)204693019246930193Human
597156160GWAS1252234_Hsex hormone-binding globulin measurement QTL GWAS1252234 (human)0.0000001sex hormone-binding globulin measurement204696565646965657Human
597620037GWAS1676897_Htriglyceride measurement QTL GWAS1676897 (human)7e-16triglyceride measurementblood triglyceride level (CMO:0000118)204696201946962020Human
597582656GWAS1639516_Htype 2 diabetes mellitus QTL GWAS1639516 (human)4e-09type 2 diabetes mellitus204692446746924468Human
597582657GWAS1639517_Htype 2 diabetes mellitus QTL GWAS1639517 (human)5e-24type 2 diabetes mellitus204696773946967740Human
597105526GWAS1201600_Hsex hormone-binding globulin measurement QTL GWAS1201600 (human)6e-10sex hormone-binding globulin measurement204696565646965657Human
597050743GWAS1146817_HEczematoid dermatitis QTL GWAS1146817 (human)1e-19Eczematoid dermatitis204705263947052640Human
597165437GWAS1261511_Hopen-angle glaucoma QTL GWAS1261511 (human)2e-08open-angle glaucoma204690541446905415Human
597165438GWAS1261512_Hopen-angle glaucoma QTL GWAS1261512 (human)2e-08open-angle glaucoma204718540147185402Human
597146993GWAS1243067_Hsmoking initiation QTL GWAS1243067 (human)7e-13smoking initiation204718762947187630Human
597255550GWAS1351624_Hserum alanine aminotransferase measurement QTL GWAS1351624 (human)2e-10serum alanine aminotransferase measurementserum alanine aminotransferase activity level (CMO:0000575)204692842646928427Human
597531510GWAS1627584_Hhip geometry QTL GWAS1627584 (human)5e-09hip geometryhip circumference (CMO:0000014)204692917046929171Human
597051258GWAS1147332_Hadolescent idiopathic scoliosis QTL GWAS1147332 (human)4e-14adolescent idiopathic scoliosis204715638247156383Human
597455217GWAS1551291_HBMI-adjusted waist-hip ratio QTL GWAS1551291 (human)7e-33body size trait (VT:0100005)204690093246900933Human
597167976GWAS1264050_Haspartate aminotransferase measurement QTL GWAS1264050 (human)1e-08aspartate aminotransferase measurementblood aspartate aminotransferase activity level (CMO:0000580)204692881246928813Human
597212524GWAS1308598_Hheel bone mineral density QTL GWAS1308598 (human)9e-44heel bone mineral densitybone mineral density (CMO:0001226)204697690946976911Human
597249889GWAS1345963_HBMI-adjusted waist-hip ratio QTL GWAS1345963 (human)2e-09body size trait (VT:0100005)204694679246946793Human
597035374GWAS1131448_Htype 2 diabetes mellitus QTL GWAS1131448 (human)2e-11type 2 diabetes mellitus204696992546969926Human
597249888GWAS1345962_HBMI-adjusted waist-hip ratio QTL GWAS1345962 (human)6e-14body size trait (VT:0100005)204693727246937273Human
597065064GWAS1161138_HBMI-adjusted waist-hip ratio, physical activity measurement QTL GWAS1161138 (human)0.000006wellness/fitness trait (VT:1000152)voluntary body movement measurement (CMO:0000954)204694115746941158Human
597065065GWAS1161139_HBMI-adjusted waist-hip ratio, physical activity measurement QTL GWAS1161139 (human)4e-08wellness/fitness trait (VT:1000152)voluntary body movement measurement (CMO:0000954)204694115746941158Human
597274776GWAS1370850_Hhigh density lipoprotein cholesterol measurement QTL GWAS1370850 (human)1e-08high density lipoprotein cholesterol measurementblood high density lipoprotein cholesterol level (CMO:0000052)204697045146970452Human
597254811GWAS1350885_Haspartate aminotransferase measurement QTL GWAS1350885 (human)7e-10aspartate aminotransferase measurementblood aspartate aminotransferase activity level (CMO:0000580)204692881246928813Human
597620886GWAS1677746_Hopen-angle glaucoma QTL GWAS1677746 (human)3e-11open-angle glaucoma204718221047182211Human
597251216GWAS1347290_HBMI-adjusted hip circumference QTL GWAS1347290 (human)2e-10BMI-adjusted hip circumferencehip circumference (CMO:0000014)204716501347165014Human
597055644GWAS1151718_HBMI-adjusted waist-hip ratio QTL GWAS1151718 (human)3e-10body size trait (VT:0100005)204711232547112326Human
597055645GWAS1151719_HBMI-adjusted waist-hip ratio QTL GWAS1151719 (human)6e-13body size trait (VT:0100005)204716923547169236Human
597055642GWAS1151716_HBMI-adjusted waist-hip ratio QTL GWAS1151716 (human)6e-18body size trait (VT:0100005)204696062246960623Human
597041306GWAS1137380_Htriglyceride measurement QTL GWAS1137380 (human)1e-10triglyceride measurementblood triglyceride level (CMO:0000118)204697821446978215Human
597055643GWAS1151717_HBMI-adjusted waist-hip ratio QTL GWAS1151717 (human)7e-12body size trait (VT:0100005)204691521846915219Human
597055641GWAS1151715_HBMI-adjusted waist-hip ratio QTL GWAS1151715 (human)4e-32body size trait (VT:0100005)204694102046941021Human
597251209GWAS1347283_HBMI-adjusted hip circumference QTL GWAS1347283 (human)1e-22BMI-adjusted hip circumferencehip circumference (CMO:0000014)204692837846928379Human
597251208GWAS1347282_HBMI-adjusted hip circumference QTL GWAS1347282 (human)1e-13BMI-adjusted hip circumferencehip circumference (CMO:0000014)204692881246928813Human
597251210GWAS1347284_HBMI-adjusted hip circumference QTL GWAS1347284 (human)6e-09BMI-adjusted hip circumferencehip circumference (CMO:0000014)204694457146944575Human
597035653GWAS1131727_Htriglyceride measurement QTL GWAS1131727 (human)2e-15triglyceride measurementblood triglyceride level (CMO:0000118)204697045146970452Human
597251213GWAS1347287_HBMI-adjusted hip circumference QTL GWAS1347287 (human)2e-14BMI-adjusted hip circumferencehip circumference (CMO:0000014)204695761646957617Human
597251212GWAS1347286_HBMI-adjusted hip circumference QTL GWAS1347286 (human)3e-13BMI-adjusted hip circumferencehip circumference (CMO:0000014)204694679246946793Human
597251215GWAS1347289_HBMI-adjusted hip circumference QTL GWAS1347289 (human)2e-08BMI-adjusted hip circumferencehip circumference (CMO:0000014)204700086847000869Human
597251214GWAS1347288_HBMI-adjusted hip circumference QTL GWAS1347288 (human)4e-16BMI-adjusted hip circumferencehip circumference (CMO:0000014)204697339846973399Human
597065352GWAS1161426_HBMI-adjusted waist-hip ratio QTL GWAS1161426 (human)6e-09body size trait (VT:0100005)204693019246930193Human
597251206GWAS1347280_HBMI-adjusted hip circumference QTL GWAS1347280 (human)7e-20BMI-adjusted hip circumferencehip circumference (CMO:0000014)204689802146898022Human
597166266GWAS1262340_Htype 2 diabetes mellitus QTL GWAS1262340 (human)5e-11type 2 diabetes mellitus204696681446966815Human
597058736GWAS1154810_HBMI-adjusted waist circumference QTL GWAS1154810 (human)7e-09body size trait (VT:0100005)204692883046928831Human
597308083GWAS1404157_HBMI-adjusted hip circumference QTL GWAS1404157 (human)3e-15BMI-adjusted hip circumferencehip circumference (CMO:0000014)204692881246928813Human
597467319GWAS1563393_Hwaist-hip ratio QTL GWAS1563393 (human)2e-30waist-hip ratiowaist to hip ratio (WHR) (CMO:0000020)204690093246900933Human
597044413GWAS1140487_Hmyelodysplastic syndrome QTL GWAS1140487 (human)7e-08myelodysplastic syndrome204707715347077154Human
597308084GWAS1404158_HBMI-adjusted hip circumference QTL GWAS1404158 (human)2e-20BMI-adjusted hip circumferencehip circumference (CMO:0000014)204692837846928379Human
597308085GWAS1404159_HBMI-adjusted hip circumference QTL GWAS1404159 (human)1e-09BMI-adjusted hip circumferencehip circumference (CMO:0000014)204694457146944575Human
597224104GWAS1320178_HBMI-adjusted waist circumference QTL GWAS1320178 (human)1e-11body size trait (VT:0100005)204694457146944575Human
597261487GWAS1357561_Hhigh density lipoprotein cholesterol measurement QTL GWAS1357561 (human)4e-12high density lipoprotein cholesterol measurementblood high density lipoprotein cholesterol level (CMO:0000052)204697399946974000Human
597058735GWAS1154809_HBMI-adjusted waist circumference QTL GWAS1154809 (human)2e-18body size trait (VT:0100005)204689748246897483Human
597056687GWAS1152761_Hallergic rhinitis QTL GWAS1152761 (human)5e-11allergic rhinitis204705370247053703Human
406998910GWAS647886_Hreticulocyte measurement QTL GWAS647886 (human)4e-09reticulocyte morphology trait (VT:0002424)red blood cell measurement (CMO:0001356)204690628046906281Human
597265575GWAS1361649_Hcup-to-disc ratio measurement QTL GWAS1361649 (human)3e-13cup-to-disc ratio measurement204716801447168015Human
597224103GWAS1320177_HBMI-adjusted waist circumference QTL GWAS1320177 (human)4e-14body size trait (VT:0100005)204692185046921851Human
597190872GWAS1286946_Hsex hormone-binding globulin measurement QTL GWAS1286946 (human)2e-09sex hormone-binding globulin measurement204696565646965657Human
597292251GWAS1388325_Hrespiratory system disease QTL GWAS1388325 (human)3e-12respiratory system disease204705263947052640Human
597097695GWAS1193769_Hsex hormone-binding globulin measurement QTL GWAS1193769 (human)4e-10sex hormone-binding globulin measurement204692842646928427Human
406969615GWAS618591_Htriglyceride measurement, trait in response to hydrochlorothiazide QTL GWAS618591 (human)0.000004triglyceride measurement, trait in response to hydrochlorothiazideblood triglyceride level (CMO:0000118)204705186347051864Human
597291734GWAS1387808_Hsize QTL GWAS1387808 (human)2e-20size204690380846903810Human
597289677GWAS1385751_Hbody weight QTL GWAS1385751 (human)1e-08body mass (VT:0001259)body weight (CMO:0000012)204689776846897769Human
597460683GWAS1556757_Hwaist-hip ratio QTL GWAS1556757 (human)2e-17waist-hip ratiowaist to hip ratio (WHR) (CMO:0000020)204716131447161315Human
597620471GWAS1677331_Htriglyceride measurement QTL GWAS1677331 (human)1e-15triglyceride measurementblood triglyceride level (CMO:0000118)204696420346964204Human
597594356GWAS1651216_Hcalcium measurement QTL GWAS1651216 (human)3e-14calcium measurementblood calcium level (CMO:0000502)204699821246998213Human
597070074GWAS1166148_Hsmoking behavior, BMI-adjusted waist-hip ratio QTL GWAS1166148 (human)0.0000003body size trait (VT:0100005)204693019246930193Human
597035256GWAS1131330_Hheel bone mineral density QTL GWAS1131330 (human)2e-12heel bone mineral densitybone mineral density (CMO:0001226)204694973946949740Human
597035257GWAS1131331_Hheel bone mineral density QTL GWAS1131331 (human)8e-39heel bone mineral densitybone mineral density (CMO:0001226)204697578146975782Human
597175530GWAS1271604_Hvital capacity QTL GWAS1271604 (human)7e-11vital capacity204694372146943722Human
597075682GWAS1171756_Hheel bone mineral density QTL GWAS1171756 (human)0.000001heel bone mineral densitybone mineral density (CMO:0001226)204697690946976911Human
597019360GWAS1115434_HBMI-adjusted waist-hip ratio QTL GWAS1115434 (human)4e-10body size trait (VT:0100005)204690979546909796Human
407110962GWAS759938_Hwaist-hip ratio QTL GWAS759938 (human)2e-50waist-hip ratiowaist to hip ratio (WHR) (CMO:0000020)204692309546923096Human
597270255GWAS1366329_Htype 2 diabetes mellitus QTL GWAS1366329 (human)7e-10type 2 diabetes mellitus204696773946967740Human
407110963GWAS759939_Hwaist-hip ratio QTL GWAS759939 (human)1e-12waist-hip ratiowaist to hip ratio (WHR) (CMO:0000020)204712961947129620Human
597205216GWAS1301290_Hopen-angle glaucoma QTL GWAS1301290 (human)1e-08open-angle glaucoma204690541446905415Human
597029101GWAS1125175_HBMI-adjusted waist-hip ratio QTL GWAS1125175 (human)4e-43body size trait (VT:0100005)204690742446907425Human
597106413GWAS1202487_Hreticulocyte count QTL GWAS1202487 (human)2e-09reticulocyte quantity (VT:0003135)total reticulocyte count (CMO:0003020)204690628046906281Human
597075179GWAS1171253_Hheel bone mineral density QTL GWAS1171253 (human)1e-16heel bone mineral densitybone mineral density (CMO:0001226)204697690946976911Human
597209114GWAS1305188_Htriglyceride measurement, body fat percentage QTL GWAS1305188 (human)2e-12body fat mass (VT:0010482)body fat percentage (CMO:0000302)204696420346964204Human
597341212GWAS1437286_Hserum alanine aminotransferase measurement QTL GWAS1437286 (human)4e-11serum alanine aminotransferase measurementserum alanine aminotransferase activity level (CMO:0000575)204692842646928427Human
597269010GWAS1365084_Htriglyceride measurement QTL GWAS1365084 (human)3e-19triglyceride measurementblood triglyceride level (CMO:0000118)204696607246966073Human
597074443GWAS1170517_Hinfant intracranial volume measurement QTL GWAS1170517 (human)0.0000008cranium size trait (VT:0010613)204702343847023439Human
596963338GWAS1082857_Htype 2 diabetes mellitus QTL GWAS1082857 (human)3e-10type 2 diabetes mellitus204696201946962020Human
597229625GWAS1325699_Hheel bone mineral density QTL GWAS1325699 (human)6e-44heel bone mineral densitybone mineral density (CMO:0001226)204697638946976411Human
597252152GWAS1348226_HBMI-adjusted waist-hip ratio QTL GWAS1348226 (human)6e-13body size trait (VT:0100005)204692881246928813Human
597229624GWAS1325698_Hheel bone mineral density QTL GWAS1325698 (human)4e-19heel bone mineral densitybone mineral density (CMO:0001226)204694826846948269Human
597169721GWAS1265795_Hserum alanine aminotransferase measurement QTL GWAS1265795 (human)3e-09serum alanine aminotransferase measurementserum alanine aminotransferase activity level (CMO:0000575)204697399946974000Human
597133872GWAS1229946_Hwaist-hip ratio QTL GWAS1229946 (human)1e-08waist-hip ratiowaist to hip ratio (WHR) (CMO:0000020)204693009846930099Human
597090878GWAS1186952_Htype 2 diabetes mellitus QTL GWAS1186952 (human)2e-18type 2 diabetes mellitus204696607246966073Human
597070906GWAS1166980_Hsmoking behavior, BMI-adjusted waist-hip ratio QTL GWAS1166980 (human)0.0000002body size trait (VT:0100005)204693019246930193Human
597117499GWAS1213573_Hmathematical ability QTL GWAS1213573 (human)2e-09mathematical ability204713144447131445Human
597314615GWAS1410689_Htriglyceride measurement QTL GWAS1410689 (human)2e-14triglyceride measurementblood triglyceride level (CMO:0000118)204696607246966073Human
597270068GWAS1366142_Htype 2 diabetes mellitus QTL GWAS1366142 (human)8e-11type 2 diabetes mellitus204696773946967740Human
597252151GWAS1348225_HBMI-adjusted waist-hip ratio QTL GWAS1348225 (human)4e-16body size trait (VT:0100005)204690348346903484Human
597070905GWAS1166979_Hsmoking behavior, BMI-adjusted waist-hip ratio QTL GWAS1166979 (human)1e-08body size trait (VT:0100005)204693019246930193Human
597298217GWAS1394291_Hcardiac troponin T measurement QTL GWAS1394291 (human)0.000002cardiac troponin T measurementblood troponin T level (CMO:0001284)204711406247114063Human
597458472GWAS1554546_HBMI-adjusted waist-hip ratio QTL GWAS1554546 (human)2e-33body size trait (VT:0100005)204690093246900933Human
597277221GWAS1373295_Hinsomnia QTL GWAS1373295 (human)4e-13insomnia204716034047160341Human
597096535GWAS1192609_Hsex hormone-binding globulin measurement QTL GWAS1192609 (human)0.0000001sex hormone-binding globulin measurement204692185046921851Human
597190747GWAS1286821_Hsex hormone-binding globulin measurement QTL GWAS1286821 (human)8e-09sex hormone-binding globulin measurement204692883046928831Human
597247568GWAS1343642_HBMI-adjusted waist-hip ratio QTL GWAS1343642 (human)5e-11body size trait (VT:0100005)204693886746938868Human
597057119GWAS1153193_HEczematoid dermatitis, allergic rhinitis QTL GWAS1153193 (human)7e-16Eczematoid dermatitis, allergic rhinitis204705583747055838Human
597064796GWAS1160870_Htype 2 diabetes mellitus QTL GWAS1160870 (human)0.000005type 2 diabetes mellitus204712901647129017Human
597145692GWAS1241766_Hposterior thigh muscle fat infiltration measurement QTL GWAS1241766 (human)6e-11posterior thigh muscle fat infiltration measurement204692883046928831Human
597272148GWAS1368222_Htriglyceride measurement QTL GWAS1368222 (human)3e-28triglyceride measurementblood triglyceride level (CMO:0000118)204696607246966073Human
597065816GWAS1161890_Htriglyceride measurement QTL GWAS1161890 (human)2e-09triglyceride measurementblood triglyceride level (CMO:0000118)204696890746968908Human
597399636GWAS1495710_HBMI-adjusted hip circumference QTL GWAS1495710 (human)8e-17BMI-adjusted hip circumferencehip circumference (CMO:0000014)204690093246900933Human
597051481GWAS1147555_Htriglyceride measurement, physical activity QTL GWAS1147555 (human)2e-10triglyceride measurement, physical activityblood triglyceride level (CMO:0000118)204697518546975186Human
597251141GWAS1347215_HBMI-adjusted hip circumference QTL GWAS1347215 (human)3e-08BMI-adjusted hip circumferencehip circumference (CMO:0000014)204712901647129017Human
597468277GWAS1564351_HBMI-adjusted waist-hip ratio QTL GWAS1564351 (human)4e-58body size trait (VT:0100005)204690093246900933Human
407305133GWAS954109_Hasthma QTL GWAS954109 (human)2e-08asthma204705314947053150Human
597117049GWAS1213123_Hmathematical ability QTL GWAS1213123 (human)5e-09mathematical ability204713144447131445Human
597157478GWAS1253552_Htriglyceride:HDL cholesterol ratio QTL GWAS1253552 (human)4e-12blood triglyceride amount (VT:0002644)204697045146970452Human
597062243GWAS1158317_HBMI-adjusted waist-hip ratio, physical activity measurement QTL GWAS1158317 (human)3e-08wellness/fitness trait (VT:1000152)voluntary body movement measurement (CMO:0000954)204693019246930193Human
597320300GWAS1416374_Hotosclerosis QTL GWAS1416374 (human)5e-08otosclerosis204694102046941021Human
597588579GWAS1645439_Hglucose measurement QTL GWAS1645439 (human)4e-14glucose measurementblood glucose level (CMO:0000046)204696420346964204Human

Markers in Region
WI-14748  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372045,817,349 - 45,817,477UniSTSGRCh37
Build 362045,250,756 - 45,250,884RGDNCBI36
Celera2042,531,045 - 42,531,173RGD
Cytogenetic Map20q13.1UniSTS
HuRef2042,560,896 - 42,561,024UniSTS
GeneMap99-GB4 RH Map20261.05UniSTS
GeneMap99-GB4 RH Map20263.98UniSTS
Whitehead-RH Map20298.1UniSTS
NCBI RH Map20487.3UniSTS
D20S1107  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372045,746,492 - 45,746,685UniSTSGRCh37
Build 362045,179,899 - 45,180,092RGDNCBI36
Celera2042,460,212 - 42,460,405RGD
Cytogenetic Map20q13.1UniSTS
HuRef2042,489,879 - 42,490,072UniSTS
GeneMap99-GB4 RH Map20268.73UniSTS
GeneMap99-G3 RH Map202399.0UniSTS
SHGC-8524  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372045,660,869 - 45,660,979UniSTSGRCh37
Build 362045,094,276 - 45,094,386RGDNCBI36
Celera2042,374,616 - 42,374,726RGD
Cytogenetic Map20q13.1UniSTS
HuRef2042,404,008 - 42,404,118UniSTS
Stanford-G3 RH Map202366.0UniSTS
NCBI RH Map20484.1UniSTS
D20S796  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372045,687,720 - 45,687,886UniSTSGRCh37
Build 362045,121,127 - 45,121,293RGDNCBI36
Celera2042,401,441 - 42,401,607RGD
Cytogenetic Map20q13.1UniSTS
HuRef2042,430,839 - 42,431,005UniSTS
G05261  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372045,809,921 - 45,810,020UniSTSGRCh37
Build 362045,243,328 - 45,243,427RGDNCBI36
Celera2042,523,633 - 42,523,732RGD
Cytogenetic Map20q13.1UniSTS
HuRef2042,553,486 - 42,553,585UniSTS
RH16187  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372045,664,307 - 45,664,436UniSTSGRCh37
Build 362045,097,714 - 45,097,843RGDNCBI36
Celera2042,378,054 - 42,378,183RGD
Cytogenetic Map20q13.1UniSTS
HuRef2042,407,446 - 42,407,575UniSTS
SHGC-145586  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372045,537,477 - 45,537,762UniSTSGRCh37
Build 362044,970,884 - 44,971,169RGDNCBI36
Celera2042,251,165 - 42,251,446RGD
Cytogenetic Map20q13.1UniSTS
HuRef2042,280,611 - 42,280,897UniSTS
TNG Radiation Hybrid Map2021330.0UniSTS
G01530  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372045,760,431 - 45,760,583UniSTSGRCh37
Build 362045,193,838 - 45,193,990RGDNCBI36
Celera2042,474,152 - 42,474,304RGD
Cytogenetic Map20q13.1UniSTS
HuRef2042,503,820 - 42,503,972UniSTS
AL021632  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372045,682,631 - 45,682,814UniSTSGRCh37
Build 362045,116,038 - 45,116,221RGDNCBI36
Celera2042,396,351 - 42,396,534RGD
Cytogenetic Map20q13.1UniSTS
HuRef2042,425,753 - 42,425,936UniSTS
EYA2_8337  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372045,816,769 - 45,817,581UniSTSGRCh37
Build 362045,250,176 - 45,250,988RGDNCBI36
Celera2042,530,465 - 42,531,277RGD
HuRef2042,560,316 - 42,561,128UniSTS
D20S817  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372045,687,791 - 45,687,923UniSTSGRCh37
Build 362045,121,198 - 45,121,330RGDNCBI36
Celera2042,401,512 - 42,401,644RGD
Cytogenetic Map20q13.1UniSTS
HuRef2042,430,910 - 42,431,042UniSTS
D20S797  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372045,687,867 - 45,688,028UniSTSGRCh37
Build 362045,121,274 - 45,121,435RGDNCBI36
Celera2042,401,588 - 42,401,749RGD
Cytogenetic Map20q13.1UniSTS
HuRef2042,430,986 - 42,431,147UniSTS
AL021631  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372045,764,828 - 45,764,951UniSTSGRCh37
Build 362045,198,235 - 45,198,358RGDNCBI36
Celera2042,478,547 - 42,478,670RGD
Cytogenetic Map20q13.1UniSTS
HuRef2042,508,218 - 42,508,341UniSTS
D20S791  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372045,687,546 - 45,687,671UniSTSGRCh37
Build 362045,120,953 - 45,121,078RGDNCBI36
Celera2042,401,267 - 42,401,392RGD
Cytogenetic Map20q13.1UniSTS
HuRef2042,430,665 - 42,430,790UniSTS
TNG Radiation Hybrid Map1030673.0UniSTS
TNG Radiation Hybrid Map2021422.0UniSTS
Stanford-G3 RH Map202362.0UniSTS
NCBI RH Map20484.1UniSTS


Expression

RNA-SEQ Expression

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 2340 2788 2227 4899 1694 2257 3 601 1529 440 2233 6767 6049 37 3687 1 826 1708 1549 173 1

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

Ensembl Acc Id: ENST00000317304   ⟹   ENSP00000321590
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2046,990,001 - 47,188,136 (+)Ensembl
Ensembl Acc Id: ENST00000327619   ⟹   ENSP00000333640
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2046,894,843 - 47,188,844 (+)Ensembl
Ensembl Acc Id: ENST00000357410   ⟹   ENSP00000349986
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2046,894,624 - 47,188,844 (+)Ensembl
Ensembl Acc Id: ENST00000458636   ⟹   ENSP00000395427
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2047,001,460 - 47,143,149 (+)Ensembl
Ensembl Acc Id: ENST00000471081
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2046,979,692 - 46,990,025 (+)Ensembl
Ensembl Acc Id: ENST00000475856
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2047,089,239 - 47,096,080 (+)Ensembl
Ensembl Acc Id: ENST00000479843
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2046,979,483 - 46,990,025 (+)Ensembl
Ensembl Acc Id: ENST00000497062   ⟹   ENSP00000417105
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2046,894,870 - 47,188,844 (+)Ensembl
Ensembl Acc Id: ENST00000497428
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2046,978,235 - 46,990,070 (+)Ensembl
Ensembl Acc Id: ENST00000611592   ⟹   ENSP00000483392
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2046,894,624 - 47,188,844 (+)Ensembl
RefSeq Acc Id: NM_005244   ⟹   NP_005235
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382046,894,843 - 47,188,844 (+)NCBI
GRCh372045,523,263 - 45,817,492 (+)ENTREZGENE
Build 362044,956,916 - 45,250,899 (+)NCBI Archive
HuRef2042,266,395 - 42,561,039 (+)ENTREZGENE
CHM1_12045,426,259 - 45,720,382 (+)NCBI
T2T-CHM13v2.02048,632,937 - 48,926,940 (+)NCBI
Sequence:
RefSeq Acc Id: NM_172110   ⟹   NP_742108
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382046,894,843 - 47,188,844 (+)NCBI
GRCh372045,523,263 - 45,817,492 (+)ENTREZGENE
Build 362044,956,916 - 45,250,899 (+)NCBI Archive
HuRef2042,266,395 - 42,561,039 (+)ENTREZGENE
CHM1_12045,426,259 - 45,720,382 (+)NCBI
T2T-CHM13v2.02048,632,937 - 48,926,940 (+)NCBI
Sequence:
RefSeq Acc Id: XM_005260327   ⟹   XP_005260384
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382046,894,843 - 47,188,844 (+)NCBI
GRCh372045,523,263 - 45,817,492 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017027721   ⟹   XP_016883210
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382046,894,843 - 47,188,844 (+)NCBI
Sequence:
RefSeq Acc Id: XM_047440010   ⟹   XP_047295966
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382046,945,937 - 47,188,844 (+)NCBI
RefSeq Acc Id: XM_054323191   ⟹   XP_054179166
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02048,632,937 - 48,926,940 (+)NCBI
RefSeq Acc Id: XM_054323192   ⟹   XP_054179167
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02048,632,937 - 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:
RefSeq Acc Id: NP_742108   ⟸   NM_172110
- Peptide Label: isoform c
- UniProtKB: A8KAG7 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_005260384   ⟸   XM_005260327
- Peptide Label: isoform X3
- UniProtKB: A8KAG7 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016883210   ⟸   XM_017027721
- Peptide Label: isoform X2
- UniProtKB: E7ETN2 (UniProtKB/TrEMBL),   Q66T69 (UniProtKB/TrEMBL)
- Sequence:
Ensembl Acc Id: ENSP00000483392   ⟸   ENST00000611592
Ensembl Acc Id: ENSP00000417105   ⟸   ENST00000497062
Ensembl Acc Id: ENSP00000395427   ⟸   ENST00000458636
Ensembl Acc Id: ENSP00000333640   ⟸   ENST00000327619
Ensembl Acc Id: ENSP00000321590   ⟸   ENST00000317304
Ensembl 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),   A8KAG7 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054179166   ⟸   XM_054323191
- Peptide Label: isoform X2
- UniProtKB: Q66T69 (UniProtKB/TrEMBL),   E7ETN2 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054179167   ⟸   XM_054323192
- Peptide Label: isoform X3
- UniProtKB: A8KAG7 (UniProtKB/TrEMBL)

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 AssemblyChrPosition (strand)Source
Build 362044,956,561 - 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 AssemblyChrPosition (strand)Source
Build 362045,052,206 - 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 AssemblyChrPosition (strand)Source
GRCh382046,894,616 - 46,894,676EPDNEW
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 AssemblyChrPosition (strand)Source
GRCh382046,894,843 - 46,894,903EPDNEW

Additional Information

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