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GATA4 GATA binding protein 4 [ Homo sapiens (human) ]

Gene ID: 2626, updated on 10-Dec-2024

Summary

Official Symbol
GATA4provided by HGNC
Official Full Name
GATA binding protein 4provided by HGNC
Primary source
HGNC:HGNC:4173
See related
Ensembl:ENSG00000136574 MIM:600576; AllianceGenome:HGNC:4173
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
TOF; ASD2; VSD1; TACHD
Summary
This gene encodes a member of the GATA family of zinc-finger transcription factors. Members of this family recognize the GATA motif which is present in the promoters of many genes. This protein is thought to regulate genes involved in embryogenesis and in myocardial differentiation and function, and is necessary for normal testicular development. Mutations in this gene have been associated with cardiac septal defects. Additionally, alterations in gene expression have been associated with several cancer types. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2015]
Expression
Biased expression in ovary (RPKM 23.7), duodenum (RPKM 16.4) and 8 other tissues See more
Orthologs
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Genomic context

See GATA4 in Genome Data Viewer
Location:
8p23.1
Exon count:
9
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 8 NC_000008.11 (11676935..11760002)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 8 NC_060932.1 (7980285..8063322, complement)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (11534444..11617511)

Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene long intergenic non-protein coding RNA 208 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:11456947-11457783 Neighboring gene MPRA-validated peak6905 silencer Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:11478375-11478875 Neighboring gene Sharpr-MPRA regulatory region 10445 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:11487938-11488828 Neighboring gene uncharacterized LOC105379242 Neighboring gene ReSE screen-validated silencer GRCh37_chr8:11530424-11530618 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:11532437-11532959 Neighboring gene VISTA enhancer hs2204 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18936 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:11566565-11567490 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:11567491-11568414 Neighboring gene HNF4 motif-containing MPRA enhancer 121 Neighboring gene small nucleolar RNA, H/ACA box 99 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:11584607-11585590 Neighboring gene H3K27ac hESC enhancer GRCh37_chr8:11593264-11593764 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27031 Neighboring gene H3K27ac hESC enhancer GRCh37_chr8:11594517-11595018 Neighboring gene VISTA enhancer hs2205 Neighboring gene VISTA enhancer hs508 Neighboring gene uncharacterized LOC124901888 Neighboring gene H3K27ac hESC enhancer GRCh37_chr8:11627369-11627869 Neighboring gene long intergenic non-protein coding RNA 2905 Neighboring gene nei like DNA glycosylase 2

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Atrial septal defect 2
MedGen: C1842778 OMIM: 607941 GeneReviews: Not available
Compare labs
Atrioventricular septal defect 4
MedGen: C3280781 OMIM: 614430 GeneReviews: Not available
Compare labs
Testicular anomalies with or without congenital heart disease
MedGen: C3809858 OMIM: 615542 GeneReviews: Not available
Compare labs
Tetralogy of Fallot
MedGen: C0039685 OMIM: 187500 GeneReviews: Not available
Compare labs
Ventricular septal defect 1
MedGen: C3280777 OMIM: 614429 GeneReviews: Not available
Compare labs

Copy number response

Description
Copy number response
Triplosensitivity

No evidence available (Last evaluated 2017-02-08)

ClinGen Genome Curation Page
Haploinsufficency

Sufficient evidence for dosage pathogenicity (Last evaluated 2017-02-08)

ClinGen Genome Curation PagePubMed

EBI GWAS Catalog

Description
A genome-wide association study provides evidence for association of chromosome 8p23 (MYP10) and 10q21.1 (MYP15) with high myopia in the French Population.
EBI GWAS Catalog
Four novel Loci (19q13, 6q24, 12q24, and 5q14) influence the microcirculation in vivo.
EBI GWAS Catalog

Pathways from PubChem

Interactions

General gene information

Clone Names

  • MGC126629

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables DNA binding PubMed 
enables DNA binding  
enables DNA-binding transcription activator activity PubMed 
enables DNA-binding transcription activator activity, RNA polymerase II-specific PubMed 
enables DNA-binding transcription activator activity, RNA polymerase II-specific PubMed 
contributes_to DNA-binding transcription factor activity PubMed 
enables DNA-binding transcription factor activity, RNA polymerase II-specific  
enables DNA-binding transcription factor activity, RNA polymerase II-specific  
enables NFAT protein binding  
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding  
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding PubMed 
enables RNA polymerase II transcription regulatory region sequence-specific DNA binding PubMed 
enables RNA polymerase II-specific DNA-binding transcription factor binding PubMed 
enables RNA polymerase II-specific DNA-binding transcription factor binding  
enables co-SMAD binding PubMed 
enables protein binding PubMed 
enables protein kinase binding  
enables sequence-specific DNA binding  
enables sequence-specific double-stranded DNA binding PubMed 
enables transcription cis-regulatory region binding PubMed 
enables zinc ion binding  
Items 1 - 25 of 44
Process Evidence Code Pubs
involved_in aortic valve morphogenesis PubMed 
involved_in atrial septum morphogenesis PubMed 
involved_in atrial septum primum morphogenesis  
involved_in atrial septum secundum morphogenesis PubMed 
involved_in atrioventricular canal development PubMed 
involved_in atrioventricular node development PubMed 
involved_in atrioventricular valve formation  
involved_in cardiac muscle tissue regeneration  
involved_in cardiac right ventricle morphogenesis  
involved_in cardiac ventricle morphogenesis PubMed 
involved_in cell fate commitment  
involved_in cell growth involved in cardiac muscle cell development  
involved_in cell-cell signaling  
involved_in cellular response to glucose stimulus  
involved_in embryonic foregut morphogenesis  
involved_in embryonic heart tube anterior/posterior pattern specification  
involved_in endocardial cushion development PubMed 
involved_in endocardial cushion development  
involved_in endoderm development PubMed 
involved_in heart looping  
acts_upstream_of_or_within intestinal epithelial cell differentiation PubMed 
involved_in male gonad development PubMed 
involved_in male gonad development PubMed 
involved_in negative regulation of apoptotic signaling pathway  
involved_in negative regulation of autophagy  
involved_in negative regulation of cardiac muscle cell apoptotic process  
acts_upstream_of negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway  
involved_in negative regulation of transcription by RNA polymerase II  
involved_in positive regulation of BMP signaling pathway  
involved_in positive regulation of DNA-templated transcription PubMed 
involved_in positive regulation of DNA-templated transcription  
involved_in positive regulation of angiogenesis  
involved_in positive regulation of transcription by RNA polymerase II  
involved_in positive regulation of transcription by RNA polymerase II PubMed 
involved_in positive regulation of transcription by RNA polymerase II PubMed 
involved_in positive regulation of vascular endothelial growth factor production  
involved_in regulation of DNA-templated transcription  
involved_in regulation of cardiac muscle cell contraction  
involved_in response to mechanical stimulus  
involved_in response to vitamin A  
involved_in response to xenobiotic stimulus PubMed 
involved_in transdifferentiation  
involved_in ventricular septum development  
involved_in wound healing  
Items 1 - 25 of 44
Component Evidence Code Pubs
part_of RNA polymerase II transcription regulator complex PubMed 
located_in chromatin  
located_in nuclear body  
located_in nucleoplasm  
is_active_in nucleus  
is_active_in nucleus PubMed 
located_in nucleus PubMed 
located_in nucleus PubMed 

General protein information

Preferred Names
transcription factor GATA-4
Names
GATA-binding factor 4

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

  1. NG_008177.2 RefSeqGene

    Range
    32284..88084
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001308093.3NP_001295022.1  transcription factor GATA-4 isoform 1

    See identical proteins and their annotated locations for NP_001295022.1

    Status: REVIEWED

    Source sequence(s)
    AC069185, AC090790, BC143479
    Consensus CDS
    CCDS78303.1
    UniProtKB/TrEMBL
    A0A087WZ09
    Related
    ENSP00000435712.1, ENST00000532059.6
    Conserved Domains (2) summary
    cd00202
    Location:271322
    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:1205
    GATA-N; GATA-type transcription activator, N-terminal
  2. NM_001308094.2NP_001295023.1  transcription factor GATA-4 isoform 3

    See identical proteins and their annotated locations for NP_001295023.1

    Status: REVIEWED

    Source sequence(s)
    AC069185, AF180736, AI192760, AK097060, BQ439274, FJ169610, HY015197
    Consensus CDS
    CCDS78304.1
    UniProtKB/TrEMBL
    B3KUF4
    Related
    ENSP00000435043.1, ENST00000528712.5
    Conserved Domains (1) summary
    cd00202
    Location:64115
    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
  3. NM_001374273.1NP_001361202.1  transcription factor GATA-4 isoform 3

    Status: REVIEWED

    Source sequence(s)
    AC069185, AC090790
    Consensus CDS
    CCDS78304.1
    UniProtKB/TrEMBL
    B3KUF4
    Conserved Domains (1) summary
    cd00202
    Location:64115
    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
  4. NM_001374274.1NP_001361203.1  transcription factor GATA-4 isoform 4

    Status: REVIEWED

    Source sequence(s)
    AC069185, AC090790
    Conserved Domains (1) summary
    cd00202
    Location:1073
    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
  5. NM_002052.5NP_002043.2  transcription factor GATA-4 isoform 2

    See identical proteins and their annotated locations for NP_002043.2

    Status: REVIEWED

    Source sequence(s)
    AC069185, AF180736, AI192760, AK097060, BC101580, BQ439274, DA900813, HY023604
    Consensus CDS
    CCDS5983.1
    UniProtKB/Swiss-Prot
    B7ZKX0, B7ZKZ4, P43694, Q3MJ45, Q5IFM8
    UniProtKB/TrEMBL
    A0A087WZ09
    Related
    ENSP00000334458.4, ENST00000335135.8
    Conserved Domains (2) summary
    cd00202
    Location:270321
    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:1205
    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

  1. NC_000008.11 Reference GRCh38.p14 Primary Assembly

    Range
    11676935..11760002
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p14 PATCHES

Genomic

  1. NW_018654717.1 Reference GRCh38.p14 PATCHES

    Range
    1588081..1671134 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060932.1 Alternate T2T-CHM13v2.0

    Range
    7980285..8063322 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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