GATA5 GATA binding protein 5 [Homo sapiens (human)] - Gene

Summary

Official Symbol: GATA5provided by HGNC
Official Full Name: GATA binding protein 5provided by HGNC
Primary source: HGNC:HGNC:15802
See related: Ensembl:ENSG00000130700 MIM:611496; AllianceGenome:HGNC:15802
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: CHTD5; GATAS; bB379O24.1
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]
Expression: Biased expression in duodenum (RPKM 4.8), small intestine (RPKM 4.6) and 13 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 20q13.33

Exon count:: 8

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	20	NC_000020.11 (62463497..62475995, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	20	NC_060944.1 (64260442..64272970, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	20	NC_000020.10 (61038553..61051051, complement)

Chromosome 20 - NC_000020.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Tissue-specific circular RNA induction during human fetal development
Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
BioProject: PRJNA270632
Publication: PMID 26076956
Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Coexistent HCN4 and GATA5 Rare Variants and Atrial Fibrillation in a Large Spanish Family.
Title: Coexistent HCN4 and GATA5 Rare Variants and Atrial Fibrillation in a Large Spanish Family.
Identification of non-synonymous variations in ROBO1 and GATA5 genes in a family with bicuspid aortic valve disease.
Title: Identification of non-synonymous variations in ROBO1 and GATA5 genes in a family with bicuspid aortic valve disease.
GATA binding protein 5 (GATA5) induces Rho GTPase activating protein 9 (ARHGAP9) to inhibit the malignant process of lung adenocarcinoma cells.
Title: GATA binding protein 5 (GATA5) induces Rho GTPase activating protein 9 (ARHGAP9) to inhibit the malignant process of lung adenocarcinoma cells.
Molecular genetic study on GATA5 gene promoter in acute myocardial infarction.
Title: Molecular genetic study on GATA5 gene promoter in acute myocardial infarction.
GATA5 inhibits hepatocellular carcinoma cells malignant behavior by blocking expression of beta-catenin and reprogramming genes.
Title: GATA5 inhibits hepatocellular carcinoma cells malignant behaviours by blocking expression of reprogramming genes.
H. pylori upregulates GATA-5 mRNA levels after 6, 24, and 48 h of infection in gastric epithelial cells compared to uninfected cells, in parallel with a progressive increase in TFF1 mRNA levels.
Title: Effect of Helicobacter pylori Infection on GATA-5 and TFF1 Regulation, Comparison Between Pediatric and Adult Patients.
The findings support the fact that rare functional variants especially in GATA5 could be associated with BAV, adding novel genetic factors to the list of variants associated with the phenotypic expression of this genetically complex pathology.
Title: Variants in cardiac GATA genes associated with bicuspid aortic valve.
findings show that GATA5 mutations, in addition to heart diseases, can result in congenital abnormalities of the female genitourinary tract in humans
Title: Compound heterozygous GATA5 mutations in a girl with hydrops fetalis, congenital heart defects and genital anomalies.
A multivariate regression model revealed that the effects of both the promoter methylation and the exonic SNPs in GATA5 were independent.This interaction between GATA5 variants and GATA5 promoter methylation indicates that the association of either factor with gastric disease progression is modified by the other
Title: Epigenetic and genetic variation in GATA5 is associated with gastric disease risk.
These results suggest that the induction of GATA-6 dysfunction may be more effective for chemotherapy for colorectal cancer, although the mechanism underlying the synergistic effect of 5-FU and anisomycin remains unknown.
Title: Anisomycin-induced GATA-6 degradation accompanying a decrease of proliferation of colorectal cancer cell.

Submit: New GeneRIF Correction See all GeneRIFs (42)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Congenital heart defects, multiple types, 5 MedGen: C4693563 OMIM: 617912 GeneReviews: Not available	not available

EBI GWAS Catalog

Description
Identification of 23 new prostate cancer susceptibility loci using the iCOGS custom genotyping array. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH35919 (e-PCR)
- UniSTS:32048

NoName (e-PCR)
- UniSTS:485967

NoName (e-PCR)
- UniSTS:481365

GDB:315897 (e-PCR)
- UniSTS:156546

SHGC-35115 (e-PCR)
- UniSTS:74121

NoName (e-PCR)
- UniSTS:482454

PMC317161P1 (e-PCR)
- UniSTS:273077

RH94029 (e-PCR)
- UniSTS:86481

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables DNA-binding transcription factor activity	IDA Inferred from Direct Assay more info	PubMed
enables DNA-binding transcription factor activity, RNA polymerase II-specific	IBA Inferred from Biological aspect of Ancestor more info
enables DNA-binding transcription factor activity, RNA polymerase II-specific	ISA Inferred from Sequence Alignment more info
enables DNA-binding transcription factor activity, RNA polymerase II-specific	ISS Inferred from Sequence or Structural Similarity more info
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding	IBA Inferred from Biological aspect of Ancestor more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables sequence-specific double-stranded DNA binding	IDA Inferred from Direct Assay more info	PubMed
enables transcription cis-regulatory region binding	IDA Inferred from Direct Assay more info	PubMed
enables zinc ion binding	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in aortic valve morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in aortic valve morphogenesis	ISS Inferred from Sequence or Structural Similarity more info
involved_in cardiac muscle tissue development	IBA Inferred from Biological aspect of Ancestor more info
involved_in cell fate commitment	IBA Inferred from Biological aspect of Ancestor more info
involved_in cellular response to BMP stimulus	IEA Inferred from Electronic Annotation more info
involved_in cellular response to hydrogen peroxide	IEA Inferred from Electronic Annotation more info
involved_in cellular response to nitric oxide	IEA Inferred from Electronic Annotation more info
involved_in endocardial cushion fusion	ISS Inferred from Sequence or Structural Similarity more info
involved_in heart induction	ISS Inferred from Sequence or Structural Similarity more info
acts_upstream_of_or_within intestinal epithelial cell differentiation	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of cardiac muscle hypertrophy	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of gene expression	ISS Inferred from Sequence or Structural Similarity more info
involved_in negative regulation of transcription by RNA polymerase II	IBA Inferred from Biological aspect of Ancestor more info
involved_in positive regulation of Notch signaling pathway	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of apoptotic DNA fragmentation	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of cardiac endothelial to mesenchymal transition	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of gene expression	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of transcription by RNA polymerase II	IBA Inferred from Biological aspect of Ancestor more info
involved_in positive regulation of transcription by RNA polymerase II	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of transcription by RNA polymerase II	ISS Inferred from Sequence or Structural Similarity more info

Component	Evidence Code	Pubs
located_in chromatin	ISA Inferred from Sequence Alignment more info
located_in chromatin	ISS Inferred from Sequence or Structural Similarity more info
located_in nucleoplasm	TAS Traceable Author Statement more info
is_active_in nucleus	IBA Inferred from Biological aspect of Ancestor more info
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: transcription factor GATA-5

Names: GATA binding factor-5

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_046963.1 RefSeqGene

Range

4976..17474

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_080473.5 → NP_536721.1 transcription factor GATA-5

See identical proteins and their annotated locations for NP_536721.1

Status: REVIEWED

Source sequence(s)

AL499627

Consensus CDS

CCDS13499.1

UniProtKB/Swiss-Prot

D9ZGF7, Q17RE2, Q86VU4, Q9BWX5

Related

ENSP00000252997.2, ENST00000252997.3

Conserved Domains (3) summary

smart00401
Location:184 → 229

ZnF_GATA; zinc finger binding to DNA consensus sequence [AT]GATA[AG]

cd00202
Location:188 → 232

ZnF_GATA; Zinc finger DNA binding domain; binds specifically to DNA consensus sequence [AT]GATA[AG] promoter elements; a subset of family members may also bind protein; zinc-finger consensus topology is C-X(2)-C-X(17)-C-X(2)-C

pfam05349
Location:1 → 170

GATA-N; GATA-type transcription activator, N-terminal

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000020.11 Reference GRCh38.p14 Primary Assembly

Range

62463497..62475995 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_006723699.3 → XP_006723762.1 transcription factor GATA-5 isoform X1

See identical proteins and their annotated locations for XP_006723762.1

UniProtKB/Swiss-Prot

D9ZGF7, Q17RE2, Q86VU4, Q9BWX5

Conserved Domains (3) summary

smart00401
Location:184 → 229

ZnF_GATA; zinc finger binding to DNA consensus sequence [AT]GATA[AG]

cd00202
Location:188 → 232

ZnF_GATA; Zinc finger DNA binding domain; binds specifically to DNA consensus sequence [AT]GATA[AG] promoter elements; a subset of family members may also bind protein; zinc-finger consensus topology is C-X(2)-C-X(17)-C-X(2)-C

pfam05349
Location:1 → 170

GATA-N; GATA-type transcription activator, N-terminal