GATA5

GATA binding protein 5

Summary

The protein encoded by this gene is a transcription factor that contains two GATA-type zinc fingers. The encoded protein is known to bind to hepatocyte nuclear factor-1alpha (HNF-1alpha), and this interaction is essential for cooperative activation of the intestinal lactase-phlorizin hydrolase promoter. In other organisms, similar proteins may be involved in the establishment of cardiac smooth muscle cell diversity. [provided by RefSeq, Jul 2008]

Known Variants397 total

rsidPosition (GRCh37)AllelesClassClinVar
rs606124120:61,038,214T/A——
rs11219586120:61,039,620G/T—likely benign
rs7314926120:61,039,662C/T—likely benign
rs155589585220:61,039,904C/T—likely benign
rs155589585320:61,039,905A/G—uncertain significance
rs20019977720:61,039,907C/T—likely benign
rs78219803520:61,039,908G/A—uncertain significance
rs78234511620:61,039,911C/T—uncertain significance
rs78275915620:61,039,913C/G—uncertain significance
rs198953748120:61,039,914C/G—uncertain significance
rs37365231620:61,039,916G/C—likely benign
rs78202063420:61,039,917G/A—uncertain significance
rs128476522020:61,039,918C/A—uncertain significance
rs14533043020:61,039,926C/T—uncertain significance
rs14520524020:61,039,927G/A—uncertain significance
rs78195032120:61,039,933C/A—uncertain significance
rs136522968320:61,039,934C/A—likely benign
rs14872462920:61,039,937C/G—uncertain significance
rs155589586320:61,039,939T/C—uncertain significance
rs78281869820:61,039,946A/G—likely benign
rs141797393320:61,039,952G/A—likely benign
rs78179181720:61,039,955G/T—uncertain significance
rs606155020:61,039,958T/C—benign
rs126205650120:61,039,960G/A—uncertain significance
rs78264557820:61,039,962G/C—uncertain significance
rs15123230520:61,039,964C/T—likely benign
rs20207850220:61,039,965G/A—uncertain significance
rs214647940520:61,039,969A/T—uncertain significance
rs140204559520:61,039,971G/C—uncertain significance
rs78198362120:61,039,990G/A—uncertain significance
rs78275086720:61,039,993C/T—likely benign
rs37157825520:61,039,994G/A—likely benign
rs14031749420:61,039,998T/C—conflicting classifications of pathogenicity
rs155589588420:61,040,003C/T—likely benign
rs251643587620:61,040,005C/G—uncertain significance
rs251643587920:61,040,006C/T—likely benign
rs251643588420:61,040,011G/T—uncertain significance
rs14648478220:61,040,014C/T—uncertain significance
rs55641681020:61,040,015G/A—likely benign
rs18746366520:61,040,019G/C—likely benign
rs214647950820:61,040,029C/T—uncertain significance
rs198954281620:61,040,032C/T—uncertain significance
rs78180047420:61,040,041C/T—uncertain significance
rs198954337520:61,040,050G/T—uncertain significance
rs37227203720:61,040,051C/T—likely benign
rs78224383220:61,040,052A/G—likely benign
rs251643597920:61,040,057C/G—likely benign
rs78266376120:61,040,062G/C—likely benign
rs37727167120:61,040,064G/C—likely benign
rs36858994820:61,040,065C/T—likely benign
rs20161198020:61,040,066G/A—likely benign
rs11181830520:61,040,095G/C—likely benign
rs11391277220:61,040,125G/C—benign
rs606155120:61,040,190G/T—likely benign
rs642143720:61,040,313T/G—benign
rs78261036920:61,040,376A/C—likely benign
rs78224747420:61,040,381A/G—likely benign
rs198955422820:61,040,382G/C—likely benign
rs53927232120:61,040,383C/T—likely benign
rs198955445320:61,040,386A/G—likely benign
rs78231688120:61,040,389C/T—likely benign
rs124049258820:61,040,391C/T—uncertain significance
rs214647994520:61,040,392T/A—likely benign
rs78208767220:61,040,403G/A—uncertain significance
rs78277311820:61,040,404C/T—uncertain significance
rs155589594720:61,040,409C/T—uncertain significance
rs198955584020:61,040,412G/A—uncertain significance
rs155589594920:61,040,419G/A—uncertain significance
rs155589595020:61,040,420G/T—uncertain significance
rs78194750920:61,040,432C/T—likely benign
rs37361887320:61,040,433G/A—uncertain significance
rs78249950020:61,040,434C/T—uncertain significance
rs606124320:61,040,453C/Gsynonymous variantbenign
rs14092784720:61,040,458T/C—likely benign
rs53628035920:61,040,462T/C—likely benign
rs251643684120:61,040,470T/C—uncertain significance
rs251643686120:61,040,477G/A—likely benign
rs78210288520:61,040,482C/T—uncertain significance
rs78187352820:61,040,486A/G—likely benign
rs20052693720:61,040,492T/G—likely benign
rs147318215620:61,040,501C/T—likely benign
rs15012240020:61,040,502G/A—uncertain significance
rs155589596820:61,040,504G/C—likely benign
rs118235742120:61,040,508T/G—uncertain significance
rs37675661320:61,040,520C/T—uncertain significance
rs155589597220:61,040,528C/A—likely benign
rs55502797920:61,040,529G/A—likely benign
rs78228823820:61,040,532G/A—likely benign
rs155589597520:61,040,535G/C—likely benign
rs37030322820:61,040,536G/A—likely benign
rs11261895420:61,040,668C/T—benign
rs11340210820:61,040,855A/G—likely benign
rs7518810220:61,040,867G/A—likely benign
rs198957048120:61,040,870T/C—likely benign
rs251643756020:61,040,879T/G—likely benign
rs78254886220:61,040,885C/T—uncertain significance
rs78268780620:61,040,886G/A—uncertain significance
rs78224828320:61,040,912G/A—likely benign
rs37307174720:61,040,918C/T—likely benign
rs119033270120:61,040,922G/A—uncertain significance

Showing 100 of 397 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.