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

Gene ID: 140628, updated on 27-Nov-2024

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
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Genomic context

See GATA5 in Genome Data Viewer
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_000020.11Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18201 Neighboring gene RBBP8 N-terminal like Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:60998065-60998856 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:61001435-61002194 Neighboring gene uncharacterized LOC105372710 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:61012716-61013216 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18202 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:61016724-61017224 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:61017225-61017725 Neighboring gene Sharpr-MPRA regulatory region 3586 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:61048659-61049319 Neighboring gene uncharacterized LOC105372711 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:61059580-61060461 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:61060462-61061342 Neighboring gene ReSE screen-validated silencer GRCh37_chr20:61065697-61065904 Neighboring gene uncharacterized LOC124904947 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18203

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

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

EBI GWAS Catalog

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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Gene Ontology Provided by GOA

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

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

  1. NG_046963.1 RefSeqGene

    Range
    4976..17474
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_080473.5NP_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:184229
    ZnF_GATA; zinc finger binding to DNA consensus sequence [AT]GATA[AG]
    cd00202
    Location:188232
    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:1170
    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_000020.11 Reference GRCh38.p14 Primary Assembly

    Range
    62463497..62475995 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006723699.3XP_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:184229
    ZnF_GATA; zinc finger binding to DNA consensus sequence [AT]GATA[AG]
    cd00202
    Location:188232
    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:1170
    GATA-N; GATA-type transcription activator, N-terminal

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060944.1 Alternate T2T-CHM13v2.0

    Range
    64260442..64272970 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054322987.1XP_054178962.1  transcription factor GATA-5 isoform X1

    UniProtKB/Swiss-Prot
    D9ZGF7, Q17RE2, Q86VU4, Q9BWX5
  2. XM_054322988.1XP_054178963.1  transcription factor GATA-5 isoform X1

    UniProtKB/Swiss-Prot
    D9ZGF7, Q17RE2, Q86VU4, Q9BWX5