GATA3 (GATA binding protein 3) - Rat Genome Database

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Gene: GATA3 (GATA binding protein 3) Homo sapiens
Analyze
Symbol: GATA3
Name: GATA binding protein 3
RGD ID: 733638
HGNC Page HGNC
Description: Enables DNA-binding transcription factor activity, RNA polymerase II-specific; E-box binding activity; and HMG box domain binding activity. Involved in several processes, including cellular response to cytokine stimulus; regulation of cell motility; and regulation of gene expression. Acts upstream of or within T cell differentiation and positive regulation of transcription by RNA polymerase II. Located in chromatin and nucleoplasm. Implicated in hypoparathyroidism; hypoparathyroidism-deafness-renal disease syndrome; nephrosis; and sensorineural hearing loss. Biomarker of asthma.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: GATA-binding factor 3; gata-binding protein 3; HDR; HDRS; MGC2346; MGC5199; MGC5445; trans-acting T-cell-specific transcription factor GATA-3
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl108,045,378 - 8,075,198 (+)EnsemblGRCh38hg38GRCh38
GRCh38108,045,420 - 8,075,198 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37108,096,651 - 8,117,161 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36108,136,673 - 8,157,170 (+)NCBINCBI36hg18NCBI36
Build 34108,136,672 - 8,157,170NCBI
Celera108,022,059 - 8,042,539 (+)NCBI
Cytogenetic Map10p14NCBI
HuRef108,015,002 - 8,035,471 (+)NCBIHuRef
CHM1_1108,096,969 - 8,117,441 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
1,1-dichloroethene  (ISO)
1,2-dichloroethane  (ISO)
1,4-benzoquinone  (ISO)
1-naphthyl isothiocyanate  (ISO)
13,14-dihydro-15-ketoprostaglandin D2  (ISO)
17beta-estradiol  (EXP,ISO)
2,2',4,4',5,5'-hexachlorobiphenyl  (ISO)
2,2',5,5'-tetrachlorobiphenyl  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (EXP,ISO)
2-tert-butylhydroquinone  (ISO)
4,4'-sulfonyldiphenol  (ISO)
4-(N-nitrosomethylamino)-1-(3-pyridyl)butan-1-one  (EXP)
4-hydroxynon-2-enal  (EXP,ISO)
5-aza-2'-deoxycytidine  (EXP)
5-chloro-7-iodoquinolin-8-ol  (EXP)
6-propyl-2-thiouracil  (ISO)
aflatoxin B1  (EXP)
all-trans-retinoic acid  (EXP)
alpha-galactosylceramide  (ISO)
ammonium chloride  (ISO)
aristolochic acid  (ISO)
arsane  (ISO)
arsenic atom  (ISO)
arsenite(3-)  (EXP)
arsenous acid  (EXP)
belinostat  (EXP)
benzalkonium chloride  (ISO)
benzo[a]pyrene  (EXP,ISO)
benzo[a]pyrene diol epoxide I  (EXP)
benzo[b]fluoranthene  (ISO)
beta-naphthoflavone  (ISO)
bis(2-ethylhexyl) phthalate  (ISO)
bisphenol A  (EXP,ISO)
bisphenol F  (ISO)
bleomycin A2  (ISO)
buta-1,3-diene  (ISO)
calcitriol  (EXP)
carbamazepine  (EXP)
carbon nanotube  (ISO)
chlordecone  (ISO)
chloroprene  (ISO)
choline  (ISO)
cisplatin  (EXP)
cobalt dichloride  (ISO)
coumestrol  (EXP)
cyclophosphamide  (ISO)
dexamethasone  (ISO)
diarsenic trioxide  (EXP)
diethylstilbestrol  (ISO)
disodium selenite  (EXP)
diuron  (ISO)
dorsomorphin  (EXP)
endosulfan  (ISO)
entinostat  (EXP)
ethanol  (ISO)
ethyl 3,4-dihydroxybenzoate  (ISO)
flutamide  (ISO)
folic acid  (ISO)
fragrance  (EXP)
gamma-hexachlorocyclohexane  (EXP)
gemfibrozil  (ISO)
gentamycin  (ISO)
hydrogen peroxide  (EXP)
ibuprofen  (ISO)
ionomycin  (ISO)
irinotecan  (EXP)
isotretinoin  (EXP)
L-methionine  (ISO)
lead diacetate  (ISO)
levamisole  (ISO)
Licochalcone B  (EXP)
Mecamylamine  (EXP)
mercury dibromide  (EXP)
methimazole  (ISO)
methotrexate  (EXP)
methylisothiazolinone  (EXP)
methylmercury chloride  (EXP)
N'-Nitrosonornicotine  (EXP)
N-methyl-4-phenylpyridinium  (ISO)
N-nitrosodiethylamine  (ISO)
nickel atom  (EXP)
oxaliplatin  (ISO)
ozone  (ISO)
p-chloromercuribenzoic acid  (EXP)
panobinostat  (EXP)
paracetamol  (ISO)
paraquat  (ISO)
PCB138  (ISO)
phenylmercury acetate  (EXP)
phenytoin  (ISO)
phorbol 13-acetate 12-myristate  (ISO)
pirinixic acid  (ISO)
potassium chloride  (ISO)
resveratrol  (ISO)
rofecoxib  (EXP)
S-butyl-DL-homocysteine (S,R)-sulfoximine  (ISO)
SB 431542  (EXP)
sodium arsenite  (EXP,ISO)
SR 144528  (ISO)
tacrine  (ISO)
tamoxifen  (EXP,ISO)
testosterone  (ISO)
thalidomide  (ISO)
titanium dioxide  (ISO)
toluene  (ISO)
topotecan  (ISO)
Tributyltin oxide  (ISO)
trichostatin A  (EXP)
triclosan  (EXP)
trimellitic anhydride  (ISO)
troglitazone  (EXP)
valproic acid  (EXP,ISO)
vinclozolin  (ISO)
vorinostat  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process
anatomical structure formation involved in morphogenesis  (ISO,ISS)
anatomical structure morphogenesis  (TAS)
aortic valve morphogenesis  (ISS)
axon guidance  (IEA,ISO)
canonical Wnt signaling pathway involved in metanephric kidney development  (ISS)
cardiac right ventricle morphogenesis  (ISS)
cell activation  (ISO)
cell fate commitment  (IBA)
cell fate determination  (ISO,ISS)
cell maturation  (IEA,ISO)
cell morphogenesis  (ISO)
cellular response to BMP stimulus  (IEA,ISO)
cellular response to cytokine stimulus  (ISO)
cellular response to interferon-alpha  (IEP)
cellular response to interleukin-4  (IEP,ISO)
cellular response to tumor necrosis factor  (IEP)
chromatin remodeling  (IEA,ISO)
cochlea development  (IEA,ISO)
defense response  (TAS)
developmental growth  (IEA,ISO)
ear development  (IMP)
embryonic hemopoiesis  (IEA,ISO)
embryonic organ development  (IBA,ISO)
erythrocyte differentiation  (IEA,ISO)
homeostasis of number of cells  (ISO)
humoral immune response  (IEA,ISO)
immune system development  (IBA)
in utero embryonic development  (IEA,ISO)
innate immune response  (IEA)
inner ear morphogenesis  (IEA,ISO)
kidney development  (IMP)
lens development in camera-type eye  (IEA,ISO)
lymphocyte migration  (IDA)
male gonad development  (ISS)
mast cell differentiation  (IEA,ISO)
mesenchymal to epithelial transition  (IDA)
mesonephros development  (ISO,ISS)
negative regulation of cell cycle  (IMP,ISO)
negative regulation of cell motility  (IMP)
negative regulation of cell population proliferation  (ISO,ISS)
negative regulation of cell proliferation involved in mesonephros development  (ISS)
negative regulation of DNA demethylation  (IEA,ISO)
negative regulation of endothelial cell apoptotic process  (IMP)
negative regulation of epithelial to mesenchymal transition  (IMP)
negative regulation of fat cell differentiation  (IMP)
negative regulation of fibroblast growth factor receptor signaling pathway involved in ureteric bud formation  (ISS)
negative regulation of gene expression  (ISO)
negative regulation of glial cell-derived neurotrophic factor receptor signaling pathway involved in ureteric bud formation  (ISS)
negative regulation of inflammatory response  (IMP)
negative regulation of interferon-gamma production  (IEA,ISO)
negative regulation of interleukin-2 production  (IEA,ISO)
negative regulation of mammary gland epithelial cell proliferation  (IDA)
negative regulation of transcription by RNA polymerase II  (IBA,ISO)
negative regulation of transcription, DNA-templated  (IMP)
nephric duct formation  (ISS)
nephric duct morphogenesis  (ISS)
nervous system development  (ISO)
neuron differentiation  (ISO)
neuron migration  (IEA,ISO)
norepinephrine biosynthetic process  (ISO,ISS)
otic vesicle development  (IEA,ISO)
parathyroid gland development  (IEA,ISO)
parathyroid hormone secretion  (IEA,ISO)
pharyngeal system development  (ISS)
phosphatidylinositol 3-kinase signaling  (ISS)
positive regulation of cell differentiation  (ISO)
positive regulation of cytokine production  (ISO)
positive regulation of endothelial cell migration  (IMP)
positive regulation of gene expression  (ISO)
positive regulation of histone H3-K14 acetylation  (IEA,ISO)
positive regulation of histone H3-K9 acetylation  (IEA,ISO)
positive regulation of interleukin-13 production  (IDA,IMP,ISO)
positive regulation of interleukin-4 production  (ISO,ISS)
positive regulation of interleukin-5 production  (IDA,ISO)
positive regulation of pri-miRNA transcription by RNA polymerase II  (IDA)
positive regulation of protein kinase B signaling  (IMP)
positive regulation of signal transduction  (IMP)
positive regulation of T cell differentiation  (IEA,ISS)
positive regulation of T-helper 2 cell cytokine production  (IEA,ISO)
positive regulation of thyroid hormone generation  (IMP)
positive regulation of transcription by RNA polymerase II  (IDA,IMP,ISO,ISS)
positive regulation of transcription regulatory region DNA binding  (IMP)
positive regulation of transcription, DNA-templated  (IDA,IMP,ISO,ISS)
positive regulation of ureteric bud formation  (ISS)
post-embryonic development  (IEA,ISO)
pro-T cell differentiation  (IEA,ISO)
regulation of CD4-positive, alpha-beta T cell differentiation  (IEA,ISO)
regulation of cellular response to X-ray  (IMP)
regulation of cytokine production  (ISO,ISS)
regulation of epithelial cell differentiation  (IBA)
regulation of establishment of cell polarity  (IEA,ISO)
regulation of histone H3-K27 methylation  (IEA,ISO)
regulation of histone H3-K4 methylation  (IEA,ISO)
regulation of nephron tubule epithelial cell differentiation  (ISS)
regulation of neuron apoptotic process  (IEA,ISO)
regulation of neuron projection development  (IEA,ISO)
regulation of transcription by RNA polymerase II  (IBA,IEA,ISO)
response to estrogen  (IEP)
response to ethanol  (IEA,ISO)
response to gamma radiation  (IEA,ISO)
response to virus  (IEP)
response to xenobiotic stimulus  (IEA,ISO)
signal transduction  (ISS)
sympathetic nervous system development  (ISO,ISS)
T cell differentiation  (IDA)
T cell differentiation in thymus  (ISO)
T cell receptor signaling pathway  (ISS)
T-helper 2 cell differentiation  (IEA,ISO)
thymic T cell selection  (IEA,ISO)
thymus development  (IEA,ISO)
TOR signaling  (ISS)
type IV hypersensitivity  (IEA,ISO)
ureter maturation  (IEA,ISO)
ureter morphogenesis  (IEA,ISO)
ureteric bud formation  (ISS)
uterus development  (ISS)
ventricular septum development  (ISS)

Cellular Component
chromatin  (IDA,ISA)
nucleoplasm  (IDA,TAS)
nucleus  (IDA,IEA,ISO)

Molecular Pathway Annotations     Click to see Annotation Detail View
References

Additional References at PubMed
PMID:1827068   PMID:1871134   PMID:2017177   PMID:2050118   PMID:7592673   PMID:8088776   PMID:9020185   PMID:9819382   PMID:10037815   PMID:10212281   PMID:10364157   PMID:11076863  
PMID:11256614   PMID:11389161   PMID:11724781   PMID:11937547   PMID:11970965   PMID:12057898   PMID:12087127   PMID:12217316   PMID:12477932   PMID:12767938   PMID:12960249   PMID:14757746  
PMID:14985365   PMID:15016828   PMID:15087456   PMID:15251440   PMID:15328158   PMID:15361840   PMID:15489334   PMID:15489336   PMID:15563083   PMID:15632006   PMID:15637551   PMID:15662016  
PMID:15699146   PMID:15826950   PMID:15947486   PMID:15975924   PMID:16087702   PMID:16317090   PMID:16357129   PMID:16381901   PMID:16498264   PMID:16509533   PMID:16912130   PMID:16922677  
PMID:17057718   PMID:17074191   PMID:17075044   PMID:17078870   PMID:17111354   PMID:17114435   PMID:17114920   PMID:17117487   PMID:17210674   PMID:17234745   PMID:17272506   PMID:17277157  
PMID:17357106   PMID:17381824   PMID:17390031   PMID:17445472   PMID:17445473   PMID:17616709   PMID:17628972   PMID:17654061   PMID:17658279   PMID:17703412   PMID:17845581   PMID:18006915  
PMID:18029348   PMID:18037162   PMID:18079734   PMID:18154704   PMID:18212358   PMID:18260379   PMID:18268121   PMID:18338249   PMID:18410415   PMID:18445004   PMID:18533032   PMID:18607915  
PMID:18619618   PMID:18676680   PMID:18701459   PMID:18772129   PMID:18826115   PMID:18849568   PMID:19043799   PMID:19057839   PMID:19059610   PMID:19082709   PMID:19084267   PMID:19092634  
PMID:19094228   PMID:19170196   PMID:19189213   PMID:19232384   PMID:19247692   PMID:19248112   PMID:19248180   PMID:19253381   PMID:19258923   PMID:19261198   PMID:19274049   PMID:19336263  
PMID:19342088   PMID:19346497   PMID:19411068   PMID:19452711   PMID:19473628   PMID:19483726   PMID:19549328   PMID:19559773   PMID:19615257   PMID:19625176   PMID:19639723   PMID:19674970  
PMID:19692168   PMID:19719829   PMID:19723756   PMID:19728080   PMID:19735555   PMID:19798694   PMID:19805038   PMID:19861286   PMID:19946260   PMID:20130088   PMID:20154722   PMID:20189993  
PMID:20211142   PMID:20237292   PMID:20237496   PMID:20333526   PMID:20368097   PMID:20484083   PMID:20503287   PMID:20554961   PMID:20583921   PMID:20660789   PMID:20696860   PMID:20705609  
PMID:20716621   PMID:20855495   PMID:21037568   PMID:21048031   PMID:21114556   PMID:21120445   PMID:21157112   PMID:21242646   PMID:21289214   PMID:21329183   PMID:21334719   PMID:21399899  
PMID:21468546   PMID:21611195   PMID:21638273   PMID:21682737   PMID:21743959   PMID:21761347   PMID:21873635   PMID:21878914   PMID:21892208   PMID:21930782   PMID:22019771   PMID:22039304  
PMID:22120723   PMID:22336257   PMID:22391183   PMID:22529382   PMID:22607700   PMID:22706858   PMID:22909160   PMID:22951069   PMID:22951729   PMID:22982890   PMID:22985730   PMID:23063330  
PMID:23172872   PMID:23203342   PMID:23266442   PMID:23291697   PMID:23308012   PMID:23354167   PMID:23375642   PMID:23395819   PMID:23403292   PMID:23413906   PMID:23428429   PMID:23430443  
PMID:23435732   PMID:23446338   PMID:23453625   PMID:23549873   PMID:23577196   PMID:23599157   PMID:23604756   PMID:23715162   PMID:23817569   PMID:23906664   PMID:23939152   PMID:23958551  
PMID:23996088   PMID:24061521   PMID:24068962   PMID:24121175   PMID:24124001   PMID:24134931   PMID:24141364   PMID:24145643   PMID:24149102   PMID:24235142   PMID:24235972   PMID:24315206  
PMID:24327562   PMID:24338248   PMID:24346062   PMID:24363163   PMID:24390342   PMID:24415069   PMID:24421220   PMID:24434941   PMID:24448324   PMID:24477928   PMID:24504018   PMID:24512009  
PMID:24549642   PMID:24614117   PMID:24622013   PMID:24660543   PMID:24711443   PMID:24713735   PMID:24737748   PMID:24743840   PMID:24745616   PMID:24758297   PMID:24766459   PMID:24813204  
PMID:24820417   PMID:24824028   PMID:24894987   PMID:24920014   PMID:24925221   PMID:24926087   PMID:25124981   PMID:25150746   PMID:25188865   PMID:25258321   PMID:25292313   PMID:25351211  
PMID:25410484   PMID:25416956   PMID:25425335   PMID:25552913   PMID:25575062   PMID:25611245   PMID:25651379   PMID:25753145   PMID:25771973   PMID:25851711   PMID:25855136   PMID:25873156  
PMID:25901741   PMID:25906123   PMID:25910212   PMID:25917456   PMID:26028330   PMID:26135559   PMID:26274030   PMID:26276775   PMID:26313026   PMID:26447897   PMID:26451614   PMID:26486740  
PMID:26514990   PMID:26527523   PMID:26595821   PMID:26627546   PMID:26637396   PMID:26719157   PMID:26772397   PMID:26807920   PMID:26871637   PMID:26890586   PMID:26899996   PMID:26922637  
PMID:26970513   PMID:27018307   PMID:27036044   PMID:27041579   PMID:27048872   PMID:27053161   PMID:27067807   PMID:27082299   PMID:27097544   PMID:27151990   PMID:27184484   PMID:27237631  
PMID:27249072   PMID:27251160   PMID:27267060   PMID:27354564   PMID:27387476   PMID:27528231   PMID:27533071   PMID:27543853   PMID:27556500   PMID:27588951   PMID:27589565   PMID:27594510  
PMID:27684731   PMID:27780854   PMID:27924948   PMID:27926873   PMID:28038704   PMID:28211079   PMID:28215639   PMID:28258171   PMID:28263977   PMID:28278322   PMID:28282036   PMID:28291125  
PMID:28303854   PMID:28316088   PMID:28319113   PMID:28322854   PMID:28323779   PMID:28374498   PMID:28378055   PMID:28378334   PMID:28394898   PMID:28423734   PMID:28428106   PMID:28428285  
PMID:28473536   PMID:28481869   PMID:28509479   PMID:28514748   PMID:28551327   PMID:28581515   PMID:28582342   PMID:28614770   PMID:28656603   PMID:28693610   PMID:28703335   PMID:28705707  
PMID:28722108   PMID:28765327   PMID:28877074   PMID:28928464   PMID:28965624   PMID:28976719   PMID:29088218   PMID:29116378   PMID:29180619   PMID:29235613   PMID:29340880   PMID:29358704  
PMID:29374572   PMID:29431200   PMID:29453984   PMID:29535312   PMID:29629946   PMID:29844126   PMID:29902578   PMID:29969451   PMID:29987050   PMID:30006927   PMID:30013989   PMID:30044774  
PMID:30061207   PMID:30148742   PMID:30251680   PMID:30301440   PMID:30365045   PMID:30396722   PMID:30420860   PMID:30463912   PMID:30468800   PMID:30552067   PMID:30591105   PMID:30614205  
PMID:30859636   PMID:30867811   PMID:30868892   PMID:30872657   PMID:30949172   PMID:30971548   PMID:31020542   PMID:31033498   PMID:31075138   PMID:31107186   PMID:31152121   PMID:31238969  
PMID:31256192   PMID:31391242   PMID:31405951   PMID:31409898   PMID:31424658   PMID:31469885   PMID:31492753   PMID:31519704   PMID:31588232   PMID:31636361   PMID:31685800   PMID:31690668  
PMID:31718619   PMID:31754326   PMID:31831043   PMID:31831790   PMID:31856612   PMID:31856849   PMID:31911546   PMID:31935430   PMID:32193825   PMID:32232341   PMID:32296183   PMID:32302522  
PMID:32439362   PMID:32538432   PMID:32587399   PMID:32687248   PMID:32737715   PMID:32769351   PMID:32769430   PMID:32814053   PMID:32888937   PMID:32938228   PMID:32988889   PMID:32991930  
PMID:33275800   PMID:33298139   PMID:33420376   PMID:33501493   PMID:33570661   PMID:33604757   PMID:34099719   PMID:34120367  


Genomics

Comparative Map Data
GATA3
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl108,045,378 - 8,075,198 (+)EnsemblGRCh38hg38GRCh38
GRCh38108,045,420 - 8,075,198 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37108,096,651 - 8,117,161 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36108,136,673 - 8,157,170 (+)NCBINCBI36hg18NCBI36
Build 34108,136,672 - 8,157,170NCBI
Celera108,022,059 - 8,042,539 (+)NCBI
Cytogenetic Map10p14NCBI
HuRef108,015,002 - 8,035,471 (+)NCBIHuRef
CHM1_1108,096,969 - 8,117,441 (+)NCBICHM1_1
Gata3
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm3929,861,889 - 9,892,762 (-)NCBIGRCm39mm39
GRCm39 Ensembl29,861,889 - 9,894,845 (-)Ensembl
GRCm3829,857,078 - 9,887,953 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl29,857,078 - 9,890,034 (-)EnsemblGRCm38mm10GRCm38
MGSCv3729,778,705 - 9,800,227 (-)NCBIGRCm37mm9NCBIm37
MGSCv3629,774,931 - 9,795,629 (-)NCBImm8
Celera29,794,542 - 9,816,062 (-)NCBICelera
Cytogenetic Map2A1NCBI
cM Map26.69NCBI
Gata3
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.21768,643,760 - 68,666,000 (+)NCBImRatBN7.2
mRatBN7.2 Ensembl1768,643,873 - 68,665,391 (+)Ensembl
Rnor_6.01772,419,752 - 72,452,043 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1772,429,618 - 72,450,681 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01774,114,785 - 74,137,119 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41779,991,587 - 80,011,574 (+)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.11780,002,419 - 80,022,407 (+)NCBI
Celera1768,131,695 - 68,151,337 (+)NCBICelera
Cytogenetic Map17q12.3NCBI
Gata3
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495542124,457,496 - 24,478,744 (+)EnsemblChiLan1.0
ChiLan1.0NW_00495542124,448,446 - 24,477,885 (+)NCBIChiLan1.0ChiLan1.0
GATA3
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.1108,055,853 - 8,086,271 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl108,064,207 - 8,086,272 (+)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v0108,075,951 - 8,105,573 (+)NCBIMhudiblu_PPA_v0panPan3
GATA3
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1228,068,143 - 28,098,445 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl228,069,051 - 28,087,760 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha225,104,703 - 25,134,953 (-)NCBI
ROS_Cfam_1.0228,443,699 - 28,464,623 (-)NCBI
UMICH_Zoey_3.1225,552,826 - 25,583,058 (-)NCBI
UNSW_CanFamBas_1.0226,396,168 - 26,425,115 (-)NCBI
UU_Cfam_GSD_1.0227,112,635 - 27,142,926 (-)NCBI
Gata3
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440934430,614,585 - 30,645,254 (-)NCBI
SpeTri2.0NW_0049364846,780,692 - 6,800,883 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
GATA3
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1063,367,660 - 63,388,859 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11063,367,684 - 63,397,977 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21069,582,743 - 69,601,480 (-)NCBISscrofa10.2Sscrofa10.2susScr3
GATA3
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.198,101,404 - 8,122,762 (+)NCBI
ChlSab1.1 Ensembl98,101,432 - 8,123,064 (+)Ensembl
Vero_WHO_p1.0NW_02366605113,489,149 - 13,518,902 (+)NCBI
Gata3
(Heterocephalus glaber - naked mole-rat)
Naked Mole-rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_0046247752,985,077 - 3,014,567 (+)NCBI

Position Markers
RH78856  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37108,116,609 - 8,116,794UniSTSGRCh37
Build 36108,156,615 - 8,156,800RGDNCBI36
Celera108,041,984 - 8,042,169RGD
Cytogenetic Map10p15UniSTS
HuRef108,034,916 - 8,035,101UniSTS
GeneMap99-GB4 RH Map1071.55UniSTS
NCBI RH Map10171.8UniSTS
D10S2148  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37108,116,027 - 8,116,124UniSTSGRCh37
Build 36108,156,033 - 8,156,130RGDNCBI36
Celera108,041,401 - 8,041,498RGD
Cytogenetic Map10p15UniSTS
HuRef108,034,333 - 8,034,430UniSTS
Stanford-G3 RH Map10454.0UniSTS
NCBI RH Map10182.9UniSTS
GeneMap99-G3 RH Map10454.0UniSTS
G20258  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37108,116,286 - 8,116,395UniSTSGRCh37
Build 36108,156,292 - 8,156,401RGDNCBI36
Celera108,041,661 - 8,041,770RGD
Cytogenetic Map10p15UniSTS
HuRef108,034,593 - 8,034,702UniSTS
A005A11  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37108,116,286 - 8,116,395UniSTSGRCh37
Build 36108,156,292 - 8,156,401RGDNCBI36
Celera108,041,661 - 8,041,770RGD
Cytogenetic Map10p15UniSTS
HuRef108,034,593 - 8,034,702UniSTS
GeneMap99-GB4 RH Map1060.51UniSTS
NCBI RH Map10173.9UniSTS
GATA3_1519  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37108,115,702 - 8,116,589UniSTSGRCh37
Build 36108,155,708 - 8,156,595RGDNCBI36
Celera108,041,076 - 8,041,964RGD
HuRef108,034,008 - 8,034,896UniSTS
SHGC-34122  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37108,116,989 - 8,117,116UniSTSGRCh37
Build 36108,156,995 - 8,157,122RGDNCBI36
Celera108,042,364 - 8,042,491RGD
Cytogenetic Map10p15UniSTS
HuRef108,035,296 - 8,035,423UniSTS
GeneMap99-GB4 RH Map1071.94UniSTS
Whitehead-RH Map1063.1UniSTS
GeneMap99-G3 RH Map10412.0UniSTS
RH17471  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37108,116,990 - 8,117,116UniSTSGRCh37
Build 36108,156,996 - 8,157,122RGDNCBI36
Celera108,042,365 - 8,042,491RGD
Cytogenetic Map10p15UniSTS
HuRef108,035,297 - 8,035,423UniSTS
GeneMap99-GB4 RH Map1060.51UniSTS
NCBI RH Map10172.9UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1188
Count of miRNA genes:666
Interacting mature miRNAs:730
Transcripts:ENST00000346208, ENST00000379328, ENST00000461472, ENST00000481743
Prediction methods:Miranda, Rnahybrid
Result types:miRGate_prediction

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

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


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 2
Medium 39 115 214 71 404 10 1381 15 155 220 378 245 67 68 707 5
Low 1613 2162 1395 438 1361 346 2196 1764 907 162 617 1291 96 1 1136 1402 2
Below cutoff 765 699 110 109 122 103 754 411 2400 31 453 45 9 672

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_015859 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001002295 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_002051 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005252442 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005252443 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AI024501 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AI686327 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK298213 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL390294 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY497006 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC003070 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC006793 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC006839 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BG287052 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BM152193 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471072 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  FB571433 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  FB571435 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HI179114 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HI179116 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JC009146 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KT583933 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  LC461691 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M69106 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X55037 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X55122 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X58072 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X73519 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000346208   ⟹   ENSP00000341619
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl108,054,810 - 8,074,890 (+)Ensembl
RefSeq Acc Id: ENST00000379328   ⟹   ENSP00000368632
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl108,054,688 - 8,075,198 (+)Ensembl
RefSeq Acc Id: ENST00000461472
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl108,058,399 - 8,074,064 (+)Ensembl
RefSeq Acc Id: ENST00000481743   ⟹   ENSP00000493486
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl108,053,604 - 8,058,494 (+)Ensembl
RefSeq Acc Id: ENST00000643001   ⟹   ENSP00000494284
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl108,045,378 - 8,055,896 (+)Ensembl
RefSeq Acc Id: NM_001002295   ⟹   NP_001002295
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38108,054,688 - 8,075,198 (+)NCBI
GRCh37108,087,294 - 8,117,164 (+)NCBI
Build 36108,136,673 - 8,157,170 (+)NCBI Archive
HuRef108,015,002 - 8,035,471 (+)ENTREZGENE
CHM1_1108,096,969 - 8,117,441 (+)NCBI
Sequence:
RefSeq Acc Id: NM_002051   ⟹   NP_002042
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38108,054,688 - 8,075,198 (+)NCBI
GRCh37108,087,294 - 8,117,164 (+)NCBI
Build 36108,136,673 - 8,157,170 (+)NCBI Archive
HuRef108,015,002 - 8,035,471 (+)ENTREZGENE
CHM1_1108,096,969 - 8,117,441 (+)NCBI
Sequence:
RefSeq Acc Id: XM_005252442   ⟹   XP_005252499
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38108,053,609 - 8,074,894 (+)NCBI
GRCh37108,087,294 - 8,117,164 (+)NCBI
Sequence:
RefSeq Acc Id: XM_005252443   ⟹   XP_005252500
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38108,045,420 - 8,074,894 (+)NCBI
GRCh37108,087,294 - 8,117,164 (+)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_001002295   ⟸   NM_001002295
- Peptide Label: isoform 1
- UniProtKB: P23771 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_002042   ⟸   NM_002051
- Peptide Label: isoform 2
- UniProtKB: P23771 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_005252500   ⟸   XM_005252443
- Peptide Label: isoform X1
- UniProtKB: P23771 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_005252499   ⟸   XM_005252442
- Peptide Label: isoform X1
- UniProtKB: P23771 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSP00000341619   ⟸   ENST00000346208
RefSeq Acc Id: ENSP00000493486   ⟸   ENST00000481743
RefSeq Acc Id: ENSP00000368632   ⟸   ENST00000379328
RefSeq Acc Id: ENSP00000494284   ⟸   ENST00000643001

Promoters
RGD ID:7216955
Promoter ID:EPDNEW_H14223
Type:initiation region
Name:GATA3_3
Description:GATA binding protein 3
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H14224  EPDNEW_H14225  EPDNEW_H14226  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38108,045,333 - 8,045,393EPDNEW
RGD ID:7216957
Promoter ID:EPDNEW_H14224
Type:initiation region
Name:GATA3_1
Description:GATA binding protein 3
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H14223  EPDNEW_H14225  EPDNEW_H14226  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38108,054,688 - 8,054,748EPDNEW
RGD ID:7216959
Promoter ID:EPDNEW_H14225
Type:initiation region
Name:GATA3_2
Description:GATA binding protein 3
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H14223  EPDNEW_H14224  EPDNEW_H14226  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38108,054,817 - 8,054,877EPDNEW
RGD ID:7216961
Promoter ID:EPDNEW_H14226
Type:initiation region
Name:GATA3_4
Description:GATA binding protein 3
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H14223  EPDNEW_H14224  EPDNEW_H14225  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38108,055,366 - 8,055,426EPDNEW
RGD ID:6787734
Promoter ID:HG_KWN:8540
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   HeLa_S3,   Jurkat,   Lymphoblastoid
Transcripts:NR_024255,   NR_024256,   OTTHUMT00000046720,   OTTHUMT00000046722,   OTTHUMT00000046723,   OTTHUMT00000346865,   OTTHUMT00000346866
Position:
Human AssemblyChrPosition (strand)Source
Build 36108,133,916 - 8,135,747 (-)MPROMDB
RGD ID:6787721
Promoter ID:HG_KWN:8541
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   Jurkat,   Lymphoblastoid
Transcripts:NM_002051,   OTTHUMT00000046718
Position:
Human AssemblyChrPosition (strand)Source
Build 36108,135,781 - 8,137,122 (+)MPROMDB
RGD ID:6814487
Promoter ID:HG_XEF:835
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   Lymphoblastoid
Transcripts:NM_001004967,   NM_001008444,   NM_001044567,   NM_001076804,   NM_001090866,   NM_001104718,   NM_001171800,   NM_131211,   NM_133293
Position:
Human AssemblyChrPosition (strand)Source
Build 36108,137,171 - 8,137,857 (+)MPROMDB
RGD ID:6787722
Promoter ID:HG_KWN:8542
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell
Transcripts:OTTHUMT00000046721
Position:
Human AssemblyChrPosition (strand)Source
Build 36108,140,196 - 8,140,696 (+)MPROMDB

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_001002295.2(GATA3):c.108_109del (p.Met36fs) deletion Hypoparathyroidism, deafness, renal disease syndrome [RCV000022538] Chr10:8055763..8055764 [GRCh38]
Chr10:8097726..8097727 [GRCh37]
Chr10:10p14
pathogenic
NM_001002295.2(GATA3):c.1025G>A (p.Cys342Tyr) single nucleotide variant Hypoparathyroidism, deafness, renal disease syndrome [RCV000022539] Chr10:8069573 [GRCh38]
Chr10:8111536 [GRCh37]
Chr10:10p14
pathogenic
GATA3, 900-KB DEL deletion Hypoparathyroidism, deafness, renal disease syndrome [RCV000018098] Chr10:10p15 pathogenic
GATA3, 250-KB DEL deletion Hypoparathyroidism, deafness, renal disease syndrome [RCV000018099] Chr10:10p15 pathogenic
GATA3, 49-BP DEL, NT465-513 deletion Hypoparathyroidism, deafness, renal disease syndrome [RCV000018100] Chr10:10p15 pathogenic
GATA3, 12-BP DEL, NT946-957 deletion Hypoparathyroidism, deafness, renal disease syndrome [RCV000018101] Chr10:10p15 pathogenic
NM_001002295.2(GATA3):c.829C>T (p.Arg277Ter) single nucleotide variant Hypoparathyroidism, deafness, renal disease syndrome [RCV000018102] Chr10:8064043 [GRCh38]
Chr10:8106006 [GRCh37]
Chr10:10p14
pathogenic
NM_001002295.2(GATA3):c.823T>A (p.Trp275Arg) single nucleotide variant Hypoparathyroidism, deafness, renal disease syndrome [RCV000018103] Chr10:8064037 [GRCh38]
Chr10:8106000 [GRCh37]
Chr10:10p14
pathogenic
GATA3, 2-BP INS, 3-BP INS insertion Hypoparathyroidism, deafness, renal disease syndrome [RCV000018104] Chr10:10p15 pathogenic
NM_001002295.2(GATA3):c.1099C>T (p.Arg367Ter) single nucleotide variant Hypoparathyroidism, deafness, renal disease syndrome [RCV000018105]|not provided [RCV000760379] Chr10:8073787 [GRCh38]
Chr10:8115750 [GRCh37]
Chr10:10p14
pathogenic
NM_001002295.2(GATA3):c.431del (p.Gly144fs) deletion Hypoparathyroidism, deafness, renal disease syndrome [RCV000018106] Chr10:8058489 [GRCh38]
Chr10:8100452 [GRCh37]
Chr10:10p14
pathogenic
NM_001002295.2(GATA3):c.478del (p.Asp160fs) deletion Hypoparathyroidism, deafness, renal disease syndrome [RCV000018107] Chr10:8058540 [GRCh38]
Chr10:8100503 [GRCh37]
Chr10:10p14
pathogenic
NM_001002295.2(GATA3):c.924+2delinsGCTTACTTCCC indel Hypoparathyroidism, deafness, renal disease syndrome [RCV000018108] Chr10:8064140 [GRCh38]
Chr10:8106103 [GRCh37]
Chr10:10p14
pathogenic
NM_001002295.2(GATA3):c.1059A>T (p.Arg353Ser) single nucleotide variant Hypoparathyroidism, deafness, renal disease syndrome [RCV000018109] Chr10:8073747 [GRCh38]
Chr10:8115710 [GRCh37]
Chr10:10p14
pathogenic
NM_001002295.2(GATA3):c.28T>G (p.Trp10Gly) single nucleotide variant not provided [RCV001571398] Chr10:8055683 [GRCh38]
Chr10:8097646 [GRCh37]
Chr10:10p14
uncertain significance
GRCh38/hg38 10p15.3-14(chr10:90421-8442783)x3 copy number gain See cases [RCV000051107] Chr10:90421..8442783 [GRCh38]
Chr10:224406..8484746 [GRCh37]
Chr10:126361..8524752 [NCBI36]
Chr10:10p15.3-14
pathogenic
GRCh38/hg38 10p15.3-13(chr10:90421-15569528)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052496]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052496]|See cases [RCV000052496] Chr10:90421..15569528 [GRCh38]
Chr10:224406..15611527 [GRCh37]
Chr10:126361..15651533 [NCBI36]
Chr10:10p15.3-13
pathogenic
GRCh38/hg38 10p15.1-13(chr10:4802753-16823491)x1 copy number loss See cases [RCV000052500] Chr10:4802753..16823491 [GRCh38]
Chr10:4844945..16865490 [GRCh37]
Chr10:4834945..16905496 [NCBI36]
Chr10:10p15.1-13
pathogenic
GRCh38/hg38 10p15.3-12.31(chr10:69261-19184047)x3 copy number gain See cases [RCV000053507] Chr10:69261..19184047 [GRCh38]
Chr10:224406..19472976 [GRCh37]
Chr10:105201..19512982 [NCBI36]
Chr10:10p15.3-12.31
pathogenic
GRCh38/hg38 10p15.3-12.2(chr10:90221-22567425)x3 copy number gain See cases [RCV000053508] Chr10:90221..22567425 [GRCh38]
Chr10:224406..22856354 [GRCh37]
Chr10:126161..22896360 [NCBI36]
Chr10:10p15.3-12.2
pathogenic
GRCh38/hg38 10p15.3-12.1(chr10:90421-29058318)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053512]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053512]|See cases [RCV000053512] Chr10:90421..29058318 [GRCh38]
Chr10:224406..29347247 [GRCh37]
Chr10:126361..29387253 [NCBI36]
Chr10:10p15.3-12.1
pathogenic
NM_001002295.2(GATA3):c.448C>A (p.Leu150Ile) single nucleotide variant not specified [RCV000121151] Chr10:8058511 [GRCh38]
Chr10:8100474 [GRCh37]
Chr10:10p14
not provided
NM_001002295.2(GATA3):c.737G>C (p.Gly246Ala) single nucleotide variant Hypoparathyroidism, deafness, renal disease syndrome [RCV001106312]|not provided [RCV000873280]|not specified [RCV000121152] Chr10:8058800 [GRCh38]
Chr10:8100763 [GRCh37]
Chr10:10p14
benign|likely benign|not provided
NM_001002295.2(GATA3):c.1186G>A (p.Ala396Thr) single nucleotide variant Hypoparathyroidism, deafness, renal disease syndrome [RCV001108532]|not specified [RCV000121153] Chr10:8073874 [GRCh38]
Chr10:8115837 [GRCh37]
Chr10:10p14
benign|not provided
NM_001002295.2(GATA3):c.925-16C>T single nucleotide variant Neoplasm of ovary [RCV000119362] Chr10:8069457 [GRCh38]
Chr10:8111420 [GRCh37]
Chr10:10p14
not provided
NM_001002295.2(GATA3):c.1032C>T (p.Leu344=) single nucleotide variant Familial cancer of breast [RCV000119363] Chr10:8069580 [GRCh38]
Chr10:8111543 [GRCh37]
Chr10:10p14
not provided
NM_001002295.1:c.1482-5C>T single nucleotide variant Familial cancer of breast [RCV000119364] Chr10:10p14 not provided
GRCh38/hg38 10p15.3-13(chr10:73856-12815915)x3 copy number gain See cases [RCV000135340] Chr10:73856..12815915 [GRCh38]
Chr10:119796..12857914 [GRCh37]
Chr10:109796..12897920 [NCBI36]
Chr10:10p15.3-13
pathogenic
GRCh38/hg38 10p15.3-14(chr10:90421-11713049)x3 copy number gain See cases [RCV000135533] Chr10:90421..11713049 [GRCh38]
Chr10:224406..11755048 [GRCh37]
Chr10:126361..11795054 [NCBI36]
Chr10:10p15.3-14
pathogenic|uncertain significance
GRCh38/hg38 10p14-12.31(chr10:7428770-21587752)x1 copy number loss See cases [RCV000137307] Chr10:7428770..21587752 [GRCh38]
Chr10:7470732..21876681 [GRCh37]
Chr10:7510738..21916687 [NCBI36]
Chr10:10p14-12.31
pathogenic|uncertain significance
GRCh38/hg38 10p15.3-13(chr10:70478-15373336)x3 copy number gain See cases [RCV000137384] Chr10:70478..15373336 [GRCh38]
Chr10:224406..15415335 [GRCh37]
Chr10:106418..15455341 [NCBI36]
Chr10:10p15.3-13
uncertain significance
GRCh38/hg38 10p15.3-12.1(chr10:90205-26339978)x3 copy number gain See cases [RCV000138428] Chr10:90205..26339978 [GRCh38]
Chr10:224406..26628907 [GRCh37]
Chr10:126145..26668913 [NCBI36]
Chr10:10p15.3-12.1
pathogenic
GRCh38/hg38 10p15.3-13(chr10:70478-13736564)x1 copy number loss See cases [RCV000138960] Chr10:70478..13736564 [GRCh38]
Chr10:224406..13778564 [GRCh37]
Chr10:106418..13818570 [NCBI36]
Chr10:10p15.3-13
pathogenic
GRCh38/hg38 10p15.1-q11.22(chr10:4604734-48074662)x3 copy number gain See cases [RCV000141497] Chr10:4604734..48074662 [GRCh38]
Chr10:4646926..47531169 [GRCh37]
Chr10:4636926..47125152 [NCBI36]
Chr10:10p15.1-q11.22
benign
GRCh38/hg38 10p15.3-13(chr10:54086-13205916)x3 copy number gain See cases [RCV000142292] Chr10:54086..13205916 [GRCh38]
Chr10:100026..13247916 [GRCh37]
Chr10:90026..13287922 [NCBI36]
Chr10:10p15.3-13
pathogenic
GRCh38/hg38 10p15.3-14(chr10:1601172-9203729)x3 copy number gain See cases [RCV000142241] Chr10:1601172..9203729 [GRCh38]
Chr10:1643367..9245692 [GRCh37]
Chr10:1633367..9285698 [NCBI36]
Chr10:10p15.3-14
likely pathogenic
GRCh38/hg38 10p15.3-12.31(chr10:54086-19336980)x1 copy number loss See cases [RCV000143703] Chr10:54086..19336980 [GRCh38]
Chr10:100026..19625909 [GRCh37]
Chr10:90026..19665915 [NCBI36]
Chr10:10p15.3-12.31
pathogenic|likely pathogenic
GRCh37/hg19 10p15.3-14(chr10:2593113-8484746)x1 copy number loss See cases [RCV000239795] Chr10:2593113..8484746 [GRCh37]
Chr10:10p15.3-14
pathogenic
NM_001002295.2(GATA3):c.681_682insACCACCCCATCAGCACTCACCCGCCCTACGTGCCC (p.Glu228fs) insertion Hypoparathyroidism, deafness, renal disease syndrome [RCV000225007] Chr10:8058727..8058728 [GRCh38]
Chr10:8100690..8100691 [GRCh37]
Chr10:10p14
pathogenic
NM_001002295.2(GATA3):c.681dup (p.Glu228fs) duplication not provided [RCV000316770] Chr10:8058741..8058742 [GRCh38]
Chr10:8100704..8100705 [GRCh37]
Chr10:10p14
pathogenic
NM_001002295.2(GATA3):c.1257G>A (p.Thr419=) single nucleotide variant Hypoparathyroidism, deafness, renal disease syndrome [RCV000343699]|not specified [RCV000243568] Chr10:8073945 [GRCh38]
Chr10:8115908 [GRCh37]
Chr10:10p14
benign|likely benign
NM_001002295.2(GATA3):c.606T>C (p.Arg202=) single nucleotide variant Hypoparathyroidism, deafness, renal disease syndrome [RCV000373472]|not specified [RCV000249336] Chr10:8058669 [GRCh38]
Chr10:8100632 [GRCh37]
Chr10:10p14
benign
NM_001002295.2(GATA3):c.621C>T (p.Ala207=) single nucleotide variant Hypoparathyroidism, deafness, renal disease syndrome [RCV000281804]|not specified [RCV000254316] Chr10:8058684 [GRCh38]
Chr10:8100647 [GRCh37]
Chr10:10p14
benign
NM_001002295.2(GATA3):c.216G>T (p.Val72=) single nucleotide variant Hypoparathyroidism, deafness, renal disease syndrome [RCV000322130]|not provided [RCV001549549]|not specified [RCV001288970] Chr10:8055871 [GRCh38]
Chr10:8097834 [GRCh37]
Chr10:10p14
benign|likely benign
NM_001002295.2(GATA3):c.1179C>T (p.Asn393=) single nucleotide variant Hypoparathyroidism, deafness, renal disease syndrome [RCV000395824]|not provided [RCV000876221] Chr10:8073867 [GRCh38]
Chr10:8115830 [GRCh37]
Chr10:10p14
benign|likely benign
NM_001002295.2(GATA3):c.480C>G (p.Asp160Glu) single nucleotide variant Hypoparathyroidism, deafness, renal disease syndrome [RCV000268412] Chr10:8058543 [GRCh38]
Chr10:8100506 [GRCh37]
Chr10:10p14
benign|likely benign
NM_001002295.2(GATA3):c.*798G>A single nucleotide variant Hypoparathyroidism, deafness, renal disease syndrome [RCV000346135] Chr10:8074821 [GRCh38]
Chr10:8116784 [GRCh37]
Chr10:10p14
benign|likely benign
NM_001002295.2(GATA3):c.-58C>T single nucleotide variant Hypoparathyroidism, deafness, renal disease syndrome [RCV000370152]|not provided [RCV000843609] Chr10:8055598 [GRCh38]
Chr10:8097561 [GRCh37]
Chr10:10p14
benign
NM_001002295.2(GATA3):c.573C>T (p.Pro191=) single nucleotide variant Hypoparathyroidism, deafness, renal disease syndrome [RCV000323502]|not provided [RCV000870525]|not specified [RCV000602359] Chr10:8058636 [GRCh38]
Chr10:8100599 [GRCh37]
Chr10:10p14
benign|likely benign|conflicting interpretations of pathogenicity
NM_001002295.2(GATA3):c.-69G>A single nucleotide variant Hypoparathyroidism, deafness, renal disease syndrome [RCV000398979] Chr10:8055587 [GRCh38]
Chr10:8097550 [GRCh37]
Chr10:10p14
benign|likely benign
NM_001002295.2(GATA3):c.*1066C>T single nucleotide variant Hypoparathyroidism, deafness, renal disease syndrome [RCV000305094] Chr10:8075089 [GRCh38]
Chr10:8117052 [GRCh37]
Chr10:10p14
benign
NM_001002295.2(GATA3):c.*1029C>T single nucleotide variant Hypoparathyroidism, deafness, renal disease syndrome [RCV000399611] Chr10:8075052 [GRCh38]
Chr10:8117015 [GRCh37]
Chr10:10p14
likely benign|uncertain significance
NM_001002295.2(GATA3):c.-251G>A single nucleotide variant Hypoparathyroidism, deafness, renal disease syndrome [RCV000399797] Chr10:8055405 [GRCh38]
Chr10:8097368 [GRCh37]
Chr10:10p14
benign
NM_001002295.2(GATA3):c.72G>A (p.Pro24=) single nucleotide variant Hypoparathyroidism, deafness, renal disease syndrome [RCV000271681] Chr10:8055727 [GRCh38]
Chr10:8097690 [GRCh37]
Chr10:10p14
likely benign
NM_001002295.2(GATA3):c.1223C>T (p.Ser408Leu) single nucleotide variant Hypoparathyroidism, deafness, renal disease syndrome [RCV000288694] Chr10:8073911 [GRCh38]
Chr10:8115874 [GRCh37]
Chr10:10p14
uncertain significance
NM_001002295.2(GATA3):c.*746C>T single nucleotide variant Hypoparathyroidism, deafness, renal disease syndrome [RCV000288951] Chr10:8074769 [GRCh38]
Chr10:8116732 [GRCh37]
Chr10:10p14
likely benign|uncertain significance
NM_001002295.2(GATA3):c.*265dup duplication Hypoparathyroidism, deafness, renal disease syndrome [RCV000305598]|not provided [RCV001534739] Chr10:8074278..8074279 [GRCh38]
Chr10:8116241..8116242 [GRCh37]
Chr10:10p14
benign|uncertain significance
NM_001002295.2(GATA3):c.-370+28dup duplication Hypoparathyroidism, deafness, renal disease syndrome [RCV000327406] Chr10:8054906..8054907 [GRCh38]
Chr10:8096869..8096870 [GRCh37]
Chr10:10p14
uncertain significance
NM_001002295.2(GATA3):c.-95G>T single nucleotide variant Hypoparathyroidism, deafness, renal disease syndrome [RCV000350309] Chr10:8055561 [GRCh38]
Chr10:8097524 [GRCh37]
Chr10:10p14
benign|likely benign
NM_001002295.2(GATA3):c.-413C>T single nucleotide variant Hypoparathyroidism, deafness, renal disease syndrome [RCV000272459] Chr10:8054848 [GRCh38]
Chr10:8096811 [GRCh37]
Chr10:10p14
uncertain significance
NM_001002295.2(GATA3):c.-48G>T single nucleotide variant Hypoparathyroidism, deafness, renal disease syndrome [RCV000306873]|not provided [RCV000832617] Chr10:8055608 [GRCh38]
Chr10:8097571 [GRCh37]
Chr10:10p14
benign|likely benign
NM_001002295.2(GATA3):c.870C>T (p.Leu290=) single nucleotide variant Hypoparathyroidism, deafness, renal disease syndrome [RCV000351762] Chr10:8064084 [GRCh38]
Chr10:8106047 [GRCh37]
Chr10:10p14
benign|likely benign
NM_001002295.2(GATA3):c.*26C>G single nucleotide variant Hypoparathyroidism, deafness, renal disease syndrome [RCV000308952] Chr10:8074049 [GRCh38]
Chr10:8116012 [GRCh37]
Chr10:10p14
benign|likely benign
NM_001002295.2(GATA3):c.-351C>T single nucleotide variant Hypoparathyroidism, deafness, renal disease syndrome [RCV000378488] Chr10:8055305 [GRCh38]
Chr10:8097268 [GRCh37]
Chr10:10p14
benign|likely benign
NM_001002295.2(GATA3):c.1266G>A (p.Pro422=) single nucleotide variant Hypoparathyroidism, deafness, renal disease syndrome [RCV000401283] Chr10:8073954 [GRCh38]
Chr10:8115917 [GRCh37]
Chr10:10p14
likely benign|uncertain significance
NM_001002295.2(GATA3):c.*575A>C single nucleotide variant Hypoparathyroidism, deafness, renal disease syndrome [RCV000331409] Chr10:8074598 [GRCh38]
Chr10:8116561 [GRCh37]
Chr10:10p14
likely benign|uncertain significance
NM_001002295.2(GATA3):c.-503_-502dup duplication Hypoparathyroidism, deafness, renal disease syndrome [RCV000380936] Chr10:8054743..8054744 [GRCh38]
Chr10:8096706..8096707 [GRCh37]
Chr10:10p14
uncertain significance
NM_001002295.2(GATA3):c.840G>C (p.Thr280=) single nucleotide variant Hypoparathyroidism, deafness, renal disease syndrome [RCV000292370]|not provided [RCV000876658] Chr10:8064054 [GRCh38]
Chr10:8106017 [GRCh37]
Chr10:10p14
benign|likely benign|uncertain significance
NM_001002295.2(GATA3):c.*491A>G single nucleotide variant Hypoparathyroidism, deafness, renal disease syndrome [RCV000356992] Chr10:8074514 [GRCh38]
Chr10:8116477 [GRCh37]
Chr10:10p14
benign|likely benign
NM_001002295.2(GATA3):c.*664C>T single nucleotide variant Hypoparathyroidism, deafness, renal disease syndrome [RCV000333454] Chr10:8074687 [GRCh38]
Chr10:8116650 [GRCh37]
Chr10:10p14
benign|uncertain significance
NM_001002295.2(GATA3):c.436G>A (p.Ala146Thr) single nucleotide variant Hypoparathyroidism, deafness, renal disease syndrome [RCV000358251] Chr10:8058499 [GRCh38]
Chr10:8100462 [GRCh37]
Chr10:10p14
uncertain significance
NM_001002295.2(GATA3):c.*647A>G single nucleotide variant Hypoparathyroidism, deafness, renal disease syndrome [RCV000294894] Chr10:8074670 [GRCh38]
Chr10:8116633 [GRCh37]
Chr10:10p14
uncertain significance
NM_001002295.2(GATA3):c.-264G>T single nucleotide variant Hypoparathyroidism, deafness, renal disease syndrome [RCV000335318] Chr10:8055392 [GRCh38]
Chr10:8097355 [GRCh37]
Chr10:10p14
benign|likely benign
NM_001002295.2(GATA3):c.*93C>T single nucleotide variant Hypoparathyroidism, deafness, renal disease syndrome [RCV000358999] Chr10:8074116 [GRCh38]
Chr10:8116079 [GRCh37]
Chr10:10p14
benign
NM_001002295.2(GATA3):c.*612G>A single nucleotide variant Hypoparathyroidism, deafness, renal disease syndrome [RCV000385965] Chr10:8074635 [GRCh38]
Chr10:8116598 [GRCh37]
Chr10:10p14
benign
NM_001002295.2(GATA3):c.*517A>G single nucleotide variant Hypoparathyroidism, deafness, renal disease syndrome [RCV000262217] Chr10:8074540 [GRCh38]
Chr10:8116503 [GRCh37]
Chr10:10p14
benign
NM_001002295.2(GATA3):c.706C>G (p.Pro236Ala) single nucleotide variant Hypoparathyroidism, deafness, renal disease syndrome [RCV000386611] Chr10:8058769 [GRCh38]
Chr10:8100732 [GRCh37]
Chr10:10p14
likely benign
NM_001002295.2(GATA3):c.-60C>T single nucleotide variant Hypoparathyroidism, deafness, renal disease syndrome [RCV000315548] Chr10:8055596 [GRCh38]
Chr10:8097559 [GRCh37]
Chr10:10p14
benign
NM_001002295.2(GATA3):c.*952G>A single nucleotide variant Hypoparathyroidism, deafness, renal disease syndrome [RCV000340308] Chr10:8074975 [GRCh38]
Chr10:8116938 [GRCh37]
Chr10:10p14
uncertain significance
NM_001002295.2(GATA3):c.631G>A (p.Ala211Thr) single nucleotide variant Hypoparathyroidism, deafness, renal disease syndrome [RCV000318200] Chr10:8058694 [GRCh38]
Chr10:8100657 [GRCh37]
Chr10:10p14
uncertain significance
NM_001002295.2(GATA3):c.-359G>A single nucleotide variant Hypoparathyroidism, deafness, renal disease syndrome [RCV000342415]|not provided [RCV001550516] Chr10:8055297 [GRCh38]
Chr10:8097260 [GRCh37]
Chr10:10p14
benign|likely benign
NM_001002295.2(GATA3):c.57C>T (p.Leu19=) single nucleotide variant Hypoparathyroidism, deafness, renal disease syndrome [RCV000366165] Chr10:8055712 [GRCh38]
Chr10:8097675 [GRCh37]
Chr10:10p14
uncertain significance
NM_001002295.2(GATA3):c.-49C>T single nucleotide variant Hypoparathyroidism, deafness, renal disease syndrome [RCV000391765]|not specified [RCV000602004] Chr10:8055607 [GRCh38]
Chr10:8097570 [GRCh37]
Chr10:10p14
benign|likely benign
NM_001002295.2(GATA3):c.-148A>G single nucleotide variant Hypoparathyroidism, deafness, renal disease syndrome [RCV000281313] Chr10:8055508 [GRCh38]
Chr10:8097471 [GRCh37]
Chr10:10p14
uncertain significance
NM_001002295.2(GATA3):c.*267G>A single nucleotide variant Hypoparathyroidism, deafness, renal disease syndrome [RCV000260951] Chr10:8074290 [GRCh38]
Chr10:8116253 [GRCh37]
Chr10:10p14
uncertain significance
NM_001002295.2(GATA3):c.-369-11C>T single nucleotide variant Hypoparathyroidism, deafness, renal disease syndrome [RCV000282786] Chr10:8055276 [GRCh38]
Chr10:8097239 [GRCh37]
Chr10:10p14
uncertain significance
NM_001002295.2(GATA3):c.*895T>G single nucleotide variant Hypoparathyroidism, deafness, renal disease syndrome [RCV000283007] Chr10:8074918 [GRCh38]
Chr10:8116881 [GRCh37]
Chr10:10p14
uncertain significance
NM_001002295.2(GATA3):c.*264_*265dup duplication Hypoparathyroidism, deafness, renal disease syndrome [RCV000360348] Chr10:8074278..8074279 [GRCh38]
Chr10:8116241..8116242 [GRCh37]
Chr10:10p14
uncertain significance
NM_001002295.2(GATA3):c.-287G>A single nucleotide variant Hypoparathyroidism, deafness, renal disease syndrome [RCV000279356] Chr10:8055369 [GRCh38]
Chr10:8097332 [GRCh37]
Chr10:10p14
uncertain significance
NM_001002295.2(GATA3):c.1201_1202del (p.Met401fs) deletion not provided [RCV000489658] Chr10:8073889..8073890 [GRCh38]
Chr10:8115852..8115853 [GRCh37]
Chr10:10p14
pathogenic|likely pathogenic
NM_001002295.2(GATA3):c.359C>T (p.Thr120Met) single nucleotide variant Hearing impairment [RCV001375342]|not provided [RCV000488087] Chr10:8058422 [GRCh38]
Chr10:8100385 [GRCh37]
Chr10:10p14
uncertain significance
NM_001002295.2(GATA3):c.242-1G>C single nucleotide variant not provided [RCV000490094] Chr10:8058304 [GRCh38]
Chr10:8100267 [GRCh37]
Chr10:10p14
likely pathogenic
NM_001002295.2(GATA3):c.53T>G (p.Val18Gly) single nucleotide variant not provided [RCV000722481] Chr10:8055708 [GRCh38]
Chr10:8097671 [GRCh37]
Chr10:10p14
uncertain significance
NM_001002295.2(GATA3):c.*714G>A single nucleotide variant Hypoparathyroidism, deafness, renal disease syndrome [RCV000381012] Chr10:8074737 [GRCh38]
Chr10:8116700 [GRCh37]
Chr10:10p14
uncertain significance
NM_001002295.2(GATA3):c.*105A>G single nucleotide variant Hypoparathyroidism, deafness, renal disease syndrome [RCV000399254] Chr10:8074128 [GRCh38]
Chr10:8116091 [GRCh37]
Chr10:10p14
uncertain significance
NM_001002295.2(GATA3):c.*356G>A single nucleotide variant Hypoparathyroidism, deafness, renal disease syndrome [RCV000316129] Chr10:8074379 [GRCh38]
Chr10:8116342 [GRCh37]
Chr10:10p14
uncertain significance
NM_001002295.2(GATA3):c.*857A>T single nucleotide variant Hypoparathyroidism, deafness, renal disease syndrome [RCV000384423] Chr10:8074880 [GRCh38]
Chr10:8116843 [GRCh37]
Chr10:10p14
uncertain significance
NM_001002295.2(GATA3):c.*1072C>A single nucleotide variant Hypoparathyroidism, deafness, renal disease syndrome [RCV000334352] Chr10:8075095 [GRCh38]
Chr10:8117058 [GRCh37]
Chr10:10p14
uncertain significance
NM_001002295.2(GATA3):c.-370+28del deletion Hypoparathyroidism, deafness, renal disease syndrome [RCV000377376] Chr10:8054907 [GRCh38]
Chr10:8096870 [GRCh37]
Chr10:10p14
benign
NM_001002295.2(GATA3):c.646dup (p.His216fs) duplication not provided [RCV000598816] Chr10:8058706..8058707 [GRCh38]
Chr10:8100669..8100670 [GRCh37]
Chr10:10p14
pathogenic
NM_001002295.2(GATA3):c.260C>G (p.Pro87Arg) single nucleotide variant not provided [RCV000722510] Chr10:8058323 [GRCh38]
Chr10:8100286 [GRCh37]
Chr10:10p14
uncertain significance
NM_001002295.2(GATA3):c.591G>A (p.Glu197=) single nucleotide variant not provided [RCV001545375] Chr10:8058654 [GRCh38]
Chr10:8100617 [GRCh37]
Chr10:10p14
likely benign
GRCh37/hg19 10p15.3-14(chr10:136361-8850609)x1 copy number loss See cases [RCV000446357] Chr10:136361..8850609 [GRCh37]
Chr10:10p15.3-14
pathogenic
GRCh37/hg19 10p15.3-11.23(chr10:100026-30278548)x3 copy number gain See cases [RCV000447131] Chr10:100026..30278548 [GRCh37]
Chr10:10p15.3-11.23
pathogenic
GRCh37/hg19 10p15.3-14(chr10:2116123-8856296)x3 copy number gain See cases [RCV000445989] Chr10:2116123..8856296 [GRCh37]
Chr10:10p15.3-14
uncertain significance
GRCh37/hg19 10p14(chr10:8056289-8118665)x3 copy number gain See cases [RCV000445717] Chr10:8056289..8118665 [GRCh37]
Chr10:10p14
likely pathogenic
GRCh37/hg19 10p15.3-q26.3(chr10:93297-135378918)x3 copy number gain See cases [RCV000448750] Chr10:93297..135378918 [GRCh37]
Chr10:10p15.3-q26.3
pathogenic
GRCh37/hg19 10p14(chr10:7377293-9129131)x1 copy number loss See cases [RCV000448295] Chr10:7377293..9129131 [GRCh37]
Chr10:10p14
pathogenic
NM_001002295.2(GATA3):c.790T>C (p.Cys264Arg) single nucleotide variant not provided [RCV000485463] Chr10:8064004 [GRCh38]
Chr10:8105967 [GRCh37]
Chr10:10p14
likely pathogenic
NM_001002295.2(GATA3):c.742G>A (p.Gly248Arg) single nucleotide variant not specified [RCV000504285] Chr10:8058805 [GRCh38]
Chr10:8100768 [GRCh37]
Chr10:10p14
uncertain significance
GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143) copy number gain See cases [RCV000511389] Chr10:100027..135427143 [GRCh37]
Chr10:10p15.3-q26.3
pathogenic|uncertain significance
GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143)x3 copy number gain See cases [RCV000510861] Chr10:100027..135427143 [GRCh37]
Chr10:10p15.3-q26.3
pathogenic
GRCh37/hg19 10p15.3-q11.23(chr10:100026-50961640)x3 copy number gain See cases [RCV000510893] Chr10:100026..50961640 [GRCh37]
Chr10:10p15.3-q11.23
pathogenic
NM_001002295.2(GATA3):c.1051-1G>C single nucleotide variant Stage 5 chronic kidney disease [RCV000494924] Chr10:8073738 [GRCh38]
Chr10:8115701 [GRCh37]
Chr10:10p14
pathogenic|likely pathogenic
NM_001002295.2(GATA3):c.587del (p.Leu196fs) deletion Inborn genetic diseases [RCV000623135] Chr10:8058650 [GRCh38]
Chr10:8100613 [GRCh37]
Chr10:10p14
pathogenic
NM_001002295.2(GATA3):c.213G>C (p.Thr71=) single nucleotide variant not specified [RCV000611537] Chr10:8055868 [GRCh38]
Chr10:8097831 [GRCh37]
Chr10:10p14
likely benign
NM_001002295.2(GATA3):c.480C>T (p.Asp160=) single nucleotide variant not specified [RCV000605147] Chr10:8058543 [GRCh38]
Chr10:8100506 [GRCh37]
Chr10:10p14
likely benign
GRCh37/hg19 10p15.3-13(chr10:100026-12842179)x1 copy number loss See cases [RCV000512541] Chr10:100026..12842179 [GRCh37]
Chr10:10p15.3-13
pathogenic
NM_001002295.2(GATA3):c.1058G>C (p.Arg353Thr) single nucleotide variant Hypoparathyroidism, deafness, renal disease syndrome [RCV000709930] Chr10:8073746 [GRCh38]
Chr10:8115709 [GRCh37]
Chr10:10p14
likely pathogenic|not provided
NM_001002295.2(GATA3):c.1055dup (p.Asn352fs) duplication not provided [RCV000722287] Chr10:8073741..8073742 [GRCh38]
Chr10:8115704..8115705 [GRCh37]
Chr10:10p14
uncertain significance
NM_001002295.2(GATA3):c.959A>G (p.Asn320Ser) single nucleotide variant not provided [RCV001531046] Chr10:8069507 [GRCh38]
Chr10:8111470 [GRCh37]
Chr10:10p14
likely pathogenic
Single allele deletion Hypoparathyroidism, deafness, renal disease syndrome [RCV000735901] Chr10:4689760..19120882 [GRCh37]
Chr10:10p15.1-12.31
pathogenic
NM_001002295.2(GATA3):c.951del (p.Cys318fs) deletion Hypoparathyroidism, deafness, renal disease syndrome [RCV001527691] Chr10:8069498 [GRCh38]
Chr10:8111461 [GRCh37]
Chr10:10p14
pathogenic
GRCh37/hg19 10p14(chr10:8098185-8102887)x1 copy number loss not provided [RCV000737010] Chr10:8098185..8102887 [GRCh37]
Chr10:10p14
benign
GRCh37/hg19 10p14(chr10:8098876-8102887)x1 copy number loss not provided [RCV000737011] Chr10:8098876..8102887 [GRCh37]
Chr10:10p14
benign
GRCh37/hg19 10p15.3-13(chr10:69083-12887271)x3 copy number gain not provided [RCV000749463] Chr10:69083..12887271 [GRCh37]
Chr10:10p15.3-13
pathogenic
GRCh37/hg19 10p15.3-q26.3(chr10:73232-135524321)x3 copy number gain not provided [RCV000749464] Chr10:73232..135524321 [GRCh37]
Chr10:10p15.3-q26.3
pathogenic
GRCh37/hg19 10p15.3-q26.3(chr10:98087-135477883)x3 copy number gain not provided [RCV000749465] Chr10:98087..135477883 [GRCh37]
Chr10:10p15.3-q26.3
pathogenic
NM_001002295.2(GATA3):c.483C>G (p.Val161=) single nucleotide variant not provided [RCV001565261] Chr10:8058546 [GRCh38]
Chr10:8100509 [GRCh37]
Chr10:10p14
likely benign
NM_001002295.2(GATA3):c.732C>T (p.Pro244=) single nucleotide variant not provided [RCV000919546] Chr10:8058795 [GRCh38]
Chr10:8100758 [GRCh37]
Chr10:10p14
likely benign
NM_001002295.2(GATA3):c.*266dup duplication not provided [RCV001567331] Chr10:8074288..8074289 [GRCh38]
Chr10:8116251..8116252 [GRCh37]
Chr10:10p14
likely benign
NM_001002295.2(GATA3):c.701dup (p.Ser237fs) duplication not provided [RCV000761715] Chr10:8058762..8058763 [GRCh38]
Chr10:8100725..8100726 [GRCh37]
Chr10:10p14
pathogenic|likely pathogenic
NM_001002295.2(GATA3):c.924+159_924+168del deletion not provided [RCV001569175] Chr10:8064296..8064305 [GRCh38]
Chr10:8106259..8106268 [GRCh37]
Chr10:10p14
likely benign
NM_001002295.2(GATA3):c.330C>T (p.Ser110=) single nucleotide variant not provided [RCV001550954] Chr10:8058393 [GRCh38]
Chr10:8100356 [GRCh37]
Chr10:10p14
likely benign
NM_001002295.2(GATA3):c.948G>A (p.Thr316=) single nucleotide variant not provided [RCV000879309] Chr10:8069496 [GRCh38]
Chr10:8111459 [GRCh37]
Chr10:10p14
likely benign
NM_001002295.2(GATA3):c.705C>T (p.Pro235=) single nucleotide variant not provided [RCV000920771] Chr10:8058768 [GRCh38]
Chr10:8100731 [GRCh37]
Chr10:10p14
likely benign
NM_001002295.2(GATA3):c.900C>T (p.Pro300=) single nucleotide variant not provided [RCV000907837] Chr10:8064114 [GRCh38]
Chr10:8106077 [GRCh37]
Chr10:10p14
likely benign
NM_001002295.2(GATA3):c.89G>A (p.Gly30Asp) single nucleotide variant not provided [RCV000821101] Chr10:8055744 [GRCh38]
Chr10:8097707 [GRCh37]
Chr10:10p14
uncertain significance
NM_001002295.2(GATA3):c.569T>C (p.Leu190Pro) single nucleotide variant not provided [RCV000994348] Chr10:8058632 [GRCh38]
Chr10:8100595 [GRCh37]
Chr10:10p14
uncertain significance
GRCh37/hg19 10p15.3-13(chr10:100026-15273144)x3 copy number gain not provided [RCV000848062] Chr10:100026..15273144 [GRCh37]
Chr10:10p15.3-13
pathogenic
NM_001002295.2(GATA3):c.708del (p.Ser237fs) deletion Hypoparathyroidism, deafness, renal disease syndrome [RCV000988325] Chr10:8058765 [GRCh38]
Chr10:8100728 [GRCh37]
Chr10:10p14
pathogenic
NM_001002295.2(GATA3):c.1050+60C>T single nucleotide variant not provided [RCV000842933] Chr10:8069658 [GRCh38]
Chr10:8111621 [GRCh37]
Chr10:10p14
benign
NM_001002295.2(GATA3):c.421T>C (p.Leu141=) single nucleotide variant not provided [RCV000841786] Chr10:8058484 [GRCh38]
Chr10:8100447 [GRCh37]
Chr10:10p14
likely benign
NM_001002295.2(GATA3):c.375C>T (p.Gly125=) single nucleotide variant not provided [RCV000916006] Chr10:8058438 [GRCh38]
Chr10:8100401 [GRCh37]
Chr10:10p14
likely benign
NM_001002295.2(GATA3):c.1055del (p.Asn352fs) deletion not provided [RCV001008631] Chr10:8073742 [GRCh38]
Chr10:8115705 [GRCh37]
Chr10:10p14
likely pathogenic
NM_001002295.2(GATA3):c.540G>A (p.Glu180=) single nucleotide variant not provided [RCV000976083] Chr10:8058603 [GRCh38]
Chr10:8100566 [GRCh37]
Chr10:10p14
likely benign
NM_001002295.2(GATA3):c.1130_1139dup (p.His380fs) microsatellite not provided [RCV001009020] Chr10:8073807..8073808 [GRCh38]
Chr10:8115770..8115771 [GRCh37]
Chr10:10p14
likely pathogenic
GRCh37/hg19 10p14(chr10:8011156-9996086)x1 copy number loss not provided [RCV000846807] Chr10:8011156..9996086 [GRCh37]
Chr10:10p14
pathogenic
GRCh37/hg19 10p15.3-13(chr10:100026-15273144)x3 copy number gain not provided [RCV000848090] Chr10:100026..15273144 [GRCh37]
Chr10:10p15.3-13
pathogenic
NM_001002295.2(GATA3):c.1058G>A (p.Arg353Lys) single nucleotide variant Hypoparathyroidism, deafness, renal disease syndrome [RCV000988326] Chr10:8073746 [GRCh38]
Chr10:8115709 [GRCh37]
Chr10:10p14
uncertain significance
GRCh37/hg19 10p14(chr10:8075029-8407665)x3 copy number gain not provided [RCV000846676] Chr10:8075029..8407665 [GRCh37]
Chr10:10p14
uncertain significance
NM_001002295.2(GATA3):c.*598G>A single nucleotide variant Hypoparathyroidism, deafness, renal disease syndrome [RCV001105275] Chr10:8074621 [GRCh38]
Chr10:8116584 [GRCh37]
Chr10:10p14
uncertain significance
NM_001002295.2(GATA3):c.-561G>T single nucleotide variant Hypoparathyroidism, deafness, renal disease syndrome [RCV001106224] Chr10:8054700 [GRCh38]
Chr10:8096663 [GRCh37]
Chr10:10p14
uncertain significance
NM_001002295.2(GATA3):c.1050+300_1050+301del deletion not provided [RCV001568288] Chr10:8069888..8069889 [GRCh38]
Chr10:8111851..8111852 [GRCh37]
Chr10:10p14
likely benign
NM_001002295.2(GATA3):c.1051-221C>T single nucleotide variant not provided [RCV001552387] Chr10:8073518 [GRCh38]
Chr10:8115481 [GRCh37]
Chr10:10p14
likely benign
NM_001002295.2(GATA3):c.778+33C>T single nucleotide variant not provided [RCV001575883] Chr10:8058874 [GRCh38]
Chr10:8100837 [GRCh37]
Chr10:10p14
likely benign
NM_001002295.2(GATA3):c.924+190del deletion not provided [RCV001561249] Chr10:8064312 [GRCh38]
Chr10:8106275 [GRCh37]
Chr10:10p14
likely benign
NM_001002295.2(GATA3):c.242-220C>T single nucleotide variant not provided [RCV001561825] Chr10:8058085 [GRCh38]
Chr10:8100048 [GRCh37]
Chr10:10p14
likely benign
NM_001002295.2(GATA3):c.373_375dup (p.Gly125dup) duplication not provided [RCV001557544] Chr10:8058434..8058435 [GRCh38]
Chr10:8100397..8100398 [GRCh37]
Chr10:10p14
likely benign
NM_001002295.2(GATA3):c.924+49T>C single nucleotide variant not provided [RCV001575301] Chr10:8064187 [GRCh38]
Chr10:8106150 [GRCh37]
Chr10:10p14
likely benign
NM_001002295.2(GATA3):c.273T>A (p.His91Gln) single nucleotide variant Hypoparathyroidism, deafness, renal disease syndrome [RCV001580338] Chr10:8058336 [GRCh38]
Chr10:8100299 [GRCh37]
Chr10:10p14
uncertain significance
NM_001002295.2(GATA3):c.1161C>T (p.Pro387=) single nucleotide variant not provided [RCV000927296] Chr10:8073849 [GRCh38]
Chr10:8115812 [GRCh37]
Chr10:10p14
likely benign
NM_001002295.2(GATA3):c.294C>T (p.Asp98=) single nucleotide variant not provided [RCV000932287] Chr10:8058357 [GRCh38]
Chr10:8100320 [GRCh37]
Chr10:10p14
likely benign
NM_001002295.2(GATA3):c.681C>G (p.Pro227=) single nucleotide variant not provided [RCV000898655] Chr10:8058744 [GRCh38]
Chr10:8100707 [GRCh37]
Chr10:10p14
likely benign
NM_001002295.2(GATA3):c.210C>G (p.Ala70=) single nucleotide variant not provided [RCV000887987] Chr10:8055865 [GRCh38]
Chr10:8097828 [GRCh37]
Chr10:10p14
likely benign
NM_001002295.2(GATA3):c.915G>A (p.Lys305=) single nucleotide variant not provided [RCV000916664] Chr10:8064129 [GRCh38]
Chr10:8106092 [GRCh37]
Chr10:10p14
likely benign
NM_001002295.2(GATA3):c.-495G>C single nucleotide variant Hypoparathyroidism, deafness, renal disease syndrome [RCV001106225] Chr10:8054766 [GRCh38]
Chr10:8096729 [GRCh37]
Chr10:10p14
uncertain significance
NM_001002295.2(GATA3):c.708C>A (p.Pro236=) single nucleotide variant Hypoparathyroidism, deafness, renal disease syndrome [RCV001106311] Chr10:8058771 [GRCh38]
Chr10:8100734 [GRCh37]
Chr10:10p14
uncertain significance
NM_001002295.2(GATA3):c.990G>A (p.Arg330=) single nucleotide variant Hypoparathyroidism, deafness, renal disease syndrome [RCV001106313] Chr10:8069538 [GRCh38]
Chr10:8111501 [GRCh37]
Chr10:10p14
uncertain significance
NM_001002295.2(GATA3):c.431dup (p.His145fs) duplication Hypoparathyroidism, deafness, renal disease syndrome [RCV001089964] Chr10:8058488..8058489 [GRCh38]
Chr10:8100451..8100452 [GRCh37]
Chr10:10p14
pathogenic
NM_001002295.2(GATA3):c.324del (p.Ala109fs) deletion Hypoparathyroidism, deafness, renal disease syndrome [RCV001078192] Chr10:8058386 [GRCh38]
Chr10:8100349 [GRCh37]
Chr10:10p14
pathogenic
NM_001002295.2(GATA3):c.489G>A (p.Pro163=) single nucleotide variant Hypoparathyroidism, deafness, renal disease syndrome [RCV001105183] Chr10:8058552 [GRCh38]
Chr10:8100515 [GRCh37]
Chr10:10p14
uncertain significance
NM_001002295.2(GATA3):c.492C>T (p.Asp164=) single nucleotide variant Hypoparathyroidism, deafness, renal disease syndrome [RCV001105184] Chr10:8058555 [GRCh38]
Chr10:8100518 [GRCh37]
Chr10:10p14
uncertain significance
NM_001002295.2(GATA3):c.681C>T (p.Pro227=) single nucleotide variant not provided [RCV000912702] Chr10:8058744 [GRCh38]
Chr10:8100707 [GRCh37]
Chr10:10p14
likely benign
NM_001002295.2(GATA3):c.924+34A>G single nucleotide variant not provided [RCV001540977] Chr10:8064172 [GRCh38]
Chr10:8106135 [GRCh37]
Chr10:10p14
benign
NM_001002295.2(GATA3):c.924+110G>A single nucleotide variant not provided [RCV001539643] Chr10:8064248 [GRCh38]
Chr10:8106211 [GRCh37]
Chr10:10p14
likely benign
NM_001002295.2(GATA3):c.241+29C>T single nucleotide variant not provided [RCV001541229] Chr10:8055925 [GRCh38]
Chr10:8097888 [GRCh37]
Chr10:10p14
likely benign
NM_001002295.2(GATA3):c.924+170_924+173del deletion not provided [RCV001560750] Chr10:8064308..8064311 [GRCh38]
Chr10:8106271..8106274 [GRCh37]
Chr10:10p14
likely benign
NM_001002295.2(GATA3):c.1051-16dup duplication not provided [RCV001556018] Chr10:8073705..8073706 [GRCh38]
Chr10:8115668..8115669 [GRCh37]
Chr10:10p14
likely benign
NM_001002295.2(GATA3):c.*383T>G single nucleotide variant Hypoparathyroidism, deafness, renal disease syndrome [RCV001103360] Chr10:8074406 [GRCh38]
Chr10:8116369 [GRCh37]
Chr10:10p14
uncertain significance
NM_001002295.2(GATA3):c.*320T>C single nucleotide variant Hypoparathyroidism, deafness, renal disease syndrome [RCV001103359] Chr10:8074343 [GRCh38]
Chr10:8116306 [GRCh37]
Chr10:10p14
uncertain significance
NM_001002295.2(GATA3):c.605G>A (p.Arg202His) single nucleotide variant Hypoparathyroidism, deafness, renal disease syndrome [RCV001254605] Chr10:8058668 [GRCh38]
Chr10:8100631 [GRCh37]
Chr10:10p14
uncertain significance
NM_001002295.2(GATA3):c.327C>T (p.Ala109=) single nucleotide variant Hypoparathyroidism, deafness, renal disease syndrome [RCV001105182] Chr10:8058390 [GRCh38]
Chr10:8100353 [GRCh37]
Chr10:10p14
uncertain significance
NM_001002295.2(GATA3):c.*588C>A single nucleotide variant Hypoparathyroidism, deafness, renal disease syndrome [RCV001105273] Chr10:8074611 [GRCh38]
Chr10:8116574 [GRCh37]
Chr10:10p14
uncertain significance
NM_001002295.2(GATA3):c.*592G>A single nucleotide variant Hypoparathyroidism, deafness, renal disease syndrome [RCV001105274] Chr10:8074615 [GRCh38]
Chr10:8116578 [GRCh37]
Chr10:10p14
uncertain significance
NM_001002295.2(GATA3):c.*656G>A single nucleotide variant Hypoparathyroidism, deafness, renal disease syndrome [RCV001105276] Chr10:8074679 [GRCh38]
Chr10:8116642 [GRCh37]
Chr10:10p14
uncertain significance
NM_001002295.2(GATA3):c.*863T>A single nucleotide variant Hypoparathyroidism, deafness, renal disease syndrome [RCV001106408] Chr10:8074886 [GRCh38]
Chr10:8116849 [GRCh37]
Chr10:10p14
uncertain significance
NM_001002295.2(GATA3):c.*987T>G single nucleotide variant Hypoparathyroidism, deafness, renal disease syndrome [RCV001106409] Chr10:8075010 [GRCh38]
Chr10:8116973 [GRCh37]
Chr10:10p14
benign
NM_001002295.2(GATA3):c.832G>A (p.Asp278Asn) single nucleotide variant Dominant congenital non-syndromic sensorineural hearing loss [RCV001004795] Chr10:8064046 [GRCh38]
Chr10:8106009 [GRCh37]
Chr10:10p14
pathogenic
NM_001002295.2(GATA3):c.-80C>T single nucleotide variant Hypoparathyroidism, deafness, renal disease syndrome [RCV001108444] Chr10:8055576 [GRCh38]
Chr10:8097539 [GRCh37]
Chr10:10p14
uncertain significance
NM_001002295.2(GATA3):c.1173G>A (p.Ser391=) single nucleotide variant Hypoparathyroidism, deafness, renal disease syndrome [RCV001108531] Chr10:8073861 [GRCh38]
Chr10:8115824 [GRCh37]
Chr10:10p14
uncertain significance
NM_001002295.2(GATA3):c.*22G>A single nucleotide variant Hypoparathyroidism, deafness, renal disease syndrome [RCV001108533] Chr10:8074045 [GRCh38]
Chr10:8116008 [GRCh37]
Chr10:10p14
benign
NM_001002295.2(GATA3):c.864C>G (p.Cys288Trp) single nucleotide variant Hypoparathyroidism, deafness, renal disease syndrome [RCV001527690] Chr10:8064078 [GRCh38]
Chr10:8106041 [GRCh37]
Chr10:10p14
pathogenic
NM_001002295.2(GATA3):c.961T>A (p.Cys321Ser) single nucleotide variant Hypoparathyroidism, deafness, renal disease syndrome [RCV001089562] Chr10:8069509 [GRCh38]
Chr10:8111472 [GRCh37]
Chr10:10p14
pathogenic
NM_001002295.2(GATA3):c.-40G>A single nucleotide variant Hypoparathyroidism, deafness, renal disease syndrome [RCV001103266] Chr10:8055616 [GRCh38]
Chr10:8097579 [GRCh37]
Chr10:10p14
uncertain significance
NM_001002295.2(GATA3):c.706C>A (p.Pro236Thr) single nucleotide variant Hypoparathyroidism, deafness, renal disease syndrome [RCV001106310] Chr10:8058769 [GRCh38]
Chr10:8100732 [GRCh37]
Chr10:10p14
uncertain significance
NM_001002295.2(GATA3):c.*747G>A single nucleotide variant Hypoparathyroidism, deafness, renal disease syndrome [RCV001106407] Chr10:8074770 [GRCh38]
Chr10:8116733 [GRCh37]
Chr10:10p14
uncertain significance
NM_001002295.2(GATA3):c.241+8C>T single nucleotide variant Hypoparathyroidism, deafness, renal disease syndrome [RCV001103267] Chr10:8055904 [GRCh38]
Chr10:8097867 [GRCh37]
Chr10:10p14
benign
NM_001002295.2(GATA3):c.733delinsCC (p.Thr245fs) indel Hypoparathyroidism, deafness, renal disease syndrome [RCV001197241] Chr10:8058796 [GRCh38]
Chr10:8100759 [GRCh37]
Chr10:10p14
pathogenic
NM_001002295.2(GATA3):c.1262C>T (p.Thr421Met) single nucleotide variant Hypoparathyroidism, deafness, renal disease syndrome [RCV001251020] Chr10:8073950 [GRCh38]
Chr10:8115913 [GRCh37]
Chr10:10p14
likely pathogenic
NM_001002295.2(GATA3):c.708dup (p.Ser237fs) duplication Hypoparathyroidism, deafness, renal disease syndrome [RCV001254692] Chr10:8058764..8058765 [GRCh38]
Chr10:8100727..8100728 [GRCh37]
Chr10:10p14
pathogenic
NM_001002295.2(GATA3):c.790T>A (p.Cys264Ser) single nucleotide variant Hypoparathyroidism, deafness, renal disease syndrome [RCV001251506] Chr10:8064004 [GRCh38]
Chr10:8105967 [GRCh37]
Chr10:10p14
pathogenic|uncertain significance
NM_001002295.2(GATA3):c.724G>A (p.Gly242Ser) single nucleotide variant not provided [RCV001539378] Chr10:8058787 [GRCh38]
Chr10:8100750 [GRCh37]
Chr10:10p14
likely benign
NM_001002295.2(GATA3):c.778+65C>T single nucleotide variant not provided [RCV001536760] Chr10:8058906 [GRCh38]
Chr10:8100869 [GRCh37]
Chr10:10p14
benign
NM_001002295.2(GATA3):c.389del (p.Leu130fs) deletion Hypoparathyroidism, deafness, renal disease syndrome [RCV001375869] Chr10:8058452 [GRCh38]
Chr10:8100415 [GRCh37]
Chr10:10p14
pathogenic
NM_001002295.2(GATA3):c.1306C>G (p.Pro436Ala) single nucleotide variant Hypoparathyroidism, deafness, renal disease syndrome [RCV001533196]|Neurodevelopmental disorder [RCV001374962] Chr10:8073994 [GRCh38]
Chr10:8115957 [GRCh37]
Chr10:10p14
uncertain significance
NM_001002295.2(GATA3):c.71C>T (p.Pro24Leu) single nucleotide variant Hypoparathyroidism, deafness, renal disease syndrome [RCV001337038] Chr10:8055726 [GRCh38]
Chr10:8097689 [GRCh37]
Chr10:10p14
uncertain significance
NM_001002295.2(GATA3):c.1050+2T>A single nucleotide variant Congenital anomalies of kidney and urinary tract [RCV001328306] Chr10:8069600 [GRCh38]
Chr10:8111563 [GRCh37]
Chr10:10p14
likely pathogenic
NM_001002295.2(GATA3):c.257G>A (p.Arg86His) single nucleotide variant Hypoparathyroidism, deafness, renal disease syndrome [RCV001290432] Chr10:8058320 [GRCh38]
Chr10:8100283 [GRCh37]
Chr10:10p14
uncertain significance
NM_001002295.2(GATA3):c.153dup (p.Asn52Ter) duplication Hearing impairment [RCV001375170] Chr10:8055803..8055804 [GRCh38]
Chr10:8097766..8097767 [GRCh37]
Chr10:10p14
likely pathogenic

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:4172 AgrOrtholog
COSMIC GATA3 COSMIC
Ensembl Genes ENSG00000107485 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000341619 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000368632 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000493486 UniProtKB/TrEMBL
  ENSP00000494284 UniProtKB/TrEMBL
Ensembl Transcript ENST00000346208 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000379328 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000481743 UniProtKB/TrEMBL
  ENST00000643001 UniProtKB/TrEMBL
Gene3D-CATH 3.30.50.10 UniProtKB/Swiss-Prot
GTEx ENSG00000107485 GTEx
HGNC ID HGNC:4172 ENTREZGENE
Human Proteome Map GATA3 Human Proteome Map
InterPro GATA-3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TF_GATA-2/3 UniProtKB/Swiss-Prot
  Transcription_factor_GATA UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Znf_GATA UniProtKB/Swiss-Prot
  Znf_NHR/GATA UniProtKB/Swiss-Prot
KEGG Report hsa:2625 UniProtKB/Swiss-Prot
NCBI Gene 2625 ENTREZGENE
OMIM 131320 OMIM
  146255 OMIM
PANTHER PTHR10071 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR10071:SF106 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam GATA UniProtKB/Swiss-Prot
PharmGKB PA28586 PharmGKB
PIRSF TF_GATA-1/2/3 UniProtKB/Swiss-Prot
PRINTS GATAZNFINGER UniProtKB/Swiss-Prot
PROSITE GATA_ZN_FINGER_1 UniProtKB/Swiss-Prot
  GATA_ZN_FINGER_2 UniProtKB/Swiss-Prot
SMART ZnF_GATA UniProtKB/Swiss-Prot
UniProt A0A2R8Y2A9_HUMAN UniProtKB/TrEMBL
  A0A2R8Y4T2_HUMAN UniProtKB/TrEMBL
  GATA3_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
UniProt Secondary Q5VWG7 UniProtKB/Swiss-Prot
  Q5VWG8 UniProtKB/Swiss-Prot
  Q96J16 UniProtKB/Swiss-Prot