Contents

GATA5

Protein-coding gene in the species Homo sapiens

GATA5
Identifiers
Aliases	GATA5, GATAS, bB379O24.1, GATA binding protein 5, CHTD5
External IDs	OMIM: 611496; MGI: 109497; HomoloGene: 32031; GeneCards: GATA5; OMA:GATA5 - orthologs
Gene location (Human) Chr. Chromosome 20 (human)[1] Band 20q13.33 Start 62,463,497 bp[1] End 62,475,995 bp[1]
Gene location (Mouse) Chr. Chromosome 2 (mouse)[2] Band 2 H4|2 102.85 cM Start 179,966,926 bp[2] End 179,976,492 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in mucosa of ileum left uterine tube jejunal mucosa duodenum right testis left testis body of stomach right adrenal cortex urinary bladder fundus Top expressed in jejunum pyloric antrum epithelium of stomach duodenum crypt of lieberkuhn of small intestine ileum mucous cell of stomach vasculature of trunk lung parenchyma intestinal epithelium More reference expression data BioGPS n/a
Gene ontology Molecular function DNA binding sequence-specific DNA binding RNA polymerase II transcription regulatory region sequence-specific DNA binding DNA-binding transcription factor activity DNA-binding transcription activator activity, RNA polymerase II-specific zinc ion binding chromatin binding metal ion binding cis-regulatory region sequence-specific DNA binding transcription factor activity, RNA polymerase II distal enhancer sequence-specific binding DNA-binding transcription factor activity, RNA polymerase II-specific transcription factor activity, RNA polymerase II core promoter proximal region sequence-specific binding RNA polymerase II cis-regulatory region sequence-specific DNA binding protein binding Cellular component transcription regulator complex nucleoplasm nucleus Biological process regulation of transcription, DNA-templated cellular response to BMP stimulus blood coagulation transcription, DNA-templated positive regulation of transcription, DNA-templated intestinal epithelial cell differentiation transcription by RNA polymerase II positive regulation of transcription by RNA polymerase II aortic valve morphogenesis endocardial cushion fusion negative regulation of cardiac muscle hypertrophy positive regulation of gene expression negative regulation of gene expression positive regulation of Notch signaling pathway involved in heart induction positive regulation of cardiac endothelial to mesenchymal transition heart development animal organ morphogenesis tissue development cell development anatomical structure formation involved in morphogenesis digestive tract development cardiac muscle tissue development circulatory system development Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 140628 14464 Ensembl ENSG00000130700 ENSMUSG00000015627 UniProt Q9BWX5 P97489 RefSeq (mRNA) NM_080473 NM_008093 RefSeq (protein) NP_536721 NP_032119 Location (UCSC) Chr 20: 62.46 – 62.48 Mb Chr 2: 179.97 – 179.98 Mb PubMed search [3] [4]
Wikidata
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Transcription factor GATA-5 is a protein that in humans is encoded by the GATA5 gene.^[5][6]

Function[edit]

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.^[6]

Role in development[edit]

Gata5 is a transcription factor. Gata5 regulates the proper development of the heart. Early in embryo development, Gata5 helps in making sure that there are enough heart muscle precursor cells produced to differentiate into the final myocardial cells. It also regulates other genes that are crucial to successful heart development.^[7] As pregnancy progresses, Gata 5 is involved in the specification of the heart tissue that becomes the ventricles. Problems can arise when Gata5 is overexpressed. This overexpression can lead to ectopic foci. Ectopic foci are also known as ectopic pacemakers. They are bundles of cells that can cause cardiac pacing that are located in places in the heart where they're not supposed to be. These cells can become excited before the heart is supposed to be excited. This causes the heart to beat and thus contract before it should. Oftentimes, this is not a big deal and the heart naturally reverts to its normal pacing. However, if it's caused by problems with development in the heart – if Gata5 did not express properly in the embryo- then this can lead to constant ectopic foci problems. These problems include tachycardia (the heart beating too fast), bradycardia (the heart beating too slow), or ventricular fibrillation^[8] which is a serious condition where the ventricles of the heart aren't pumping consistently and can't get blood out to the body.

See also[edit]

• GATA transcription factor

References[edit]

Further reading[edit]

External links[edit]

• GATA5+protein,+human at the U.S. National Library of Medicine Medical Subject Headings (MeSH)

This article incorporates text from the United States National Library of Medicine, which is in the public domain.

This article on a gene on human chromosome 20 is a stub. You can help Wikipedia by expanding it.