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 o... See more...

Aliases for GATA5 Gene

Aliases for GATA5 Gene

  • GATA Binding Protein 5 2 3 5
  • Transcription Factor GATA-5 3 4
  • BB379O24.1 2 3
  • GATAS 2 3
  • GATA-Binding Protein 5 2
  • GATA Binding Factor-5 3
  • GATA-Binding Factor 5 4
  • CHTD5 3
  • GATA5 5

External Ids for GATA5 Gene

Previous GeneCards Identifiers for GATA5 Gene

  • GC20M060803
  • GC20M061676
  • GC20M061723
  • GC20M060471
  • GC20M061038
  • GC20M057816

Summaries for GATA5 Gene

Entrez Gene Summary for GATA5 Gene

  • 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]

GeneCards Summary for GATA5 Gene

GATA5 (GATA Binding Protein 5) is a Protein Coding gene. Diseases associated with GATA5 include Congenital Heart Defects, Multiple Types, 5 and Aortic Valve Disease 1. Among its related pathways are Response to elevated platelet cytosolic Ca2+ and G-AlphaQ Signaling. Gene Ontology (GO) annotations related to this gene include DNA-binding transcription factor activity and transcription regulatory region DNA binding. An important paralog of this gene is GATA4.

UniProtKB/Swiss-Prot Summary for GATA5 Gene

  • Transcription factor required during cardiovascular development (PubMed:23289003). Plays an important role in the transcriptional program(s) that underlies smooth muscle cell diversity (By similarity). Binds to the functionally important CEF-1 nuclear protein binding site in the cardiac-specific slow/cardiac troponin C transcriptional enhancer (PubMed:25543888).

Gene Wiki entry for GATA5 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for GATA5 Gene

Genomics for GATA5 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for GATA5 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around GATA5 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for GATA5

Top Transcription factor binding sites by QIAGEN in the GATA5 gene promoter:
  • AP-2alpha
  • AP-2alpha isoform 2
  • AP-2alpha isoform 3
  • AP-2alpha isoform 4
  • AP-2alphaA

Genomic Locations for GATA5 Gene

Genomic Locations for GATA5 Gene
chr20:62,463,497-62,475,995
(GRCh38/hg38)
Size:
12,499 bases
Orientation:
Minus strand
chr20:61,038,553-61,051,026
(GRCh37/hg19)
Size:
12,474 bases
Orientation:
Minus strand

Genomic View for GATA5 Gene

Genes around GATA5 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
GATA5 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for GATA5 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for GATA5 Gene

Proteins for GATA5 Gene

  • Protein details for GATA5 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9BWX5-GATA5_HUMAN
    Recommended name:
    Transcription factor GATA-5
    Protein Accession:
    Q9BWX5
    Secondary Accessions:
    • D9ZGF7
    • Q17RE2
    • Q86VU4

    Protein attributes for GATA5 Gene

    Size:
    397 amino acids
    Molecular mass:
    41299 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=AAH47790.1; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence={ECO:0000305};

neXtProt entry for GATA5 Gene

Post-translational modifications for GATA5 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for GATA5 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for GATA5 Gene

Domains & Families for GATA5 Gene

Gene Families for GATA5 Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted intracellular proteins
  • Transcription factors

Protein Domains for GATA5 Gene

InterPro:
Blocks:
  • Zn-finger, GATA type
  • Aminotransferase, class-II
  • GATA-type transcription activator, N-terminal
ProtoNet:

Suggested Antigen Peptide Sequences for GATA5 Gene

GenScript: Design optimal peptide antigens:
  • GATA binding protein 5, isoform CRA_a (D9ZGF7_HUMAN)
  • GATA-binding factor 5 (GATA5_HUMAN)
  • GATA5 protein (Q86VU4_HUMAN)
genes like me logo Genes that share domains with GATA5: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for GATA5 Gene

Function for GATA5 Gene

Molecular function for GATA5 Gene

UniProtKB/Swiss-Prot Function:
Transcription factor required during cardiovascular development (PubMed:23289003). Plays an important role in the transcriptional program(s) that underlies smooth muscle cell diversity (By similarity). Binds to the functionally important CEF-1 nuclear protein binding site in the cardiac-specific slow/cardiac troponin C transcriptional enhancer (PubMed:25543888).

Phenotypes From GWAS Catalog for GATA5 Gene

Gene Ontology (GO) - Molecular Function for GATA5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000976 transcription regulatory region sequence-specific DNA binding IDA 9566909
GO:0000978 RNA polymerase II proximal promoter sequence-specific DNA binding IEA,IBA 21873635
GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific IEA,ISS --
GO:0000987 proximal promoter sequence-specific DNA binding IEA --
GO:0003677 DNA binding IEA --
genes like me logo Genes that share ontologies with GATA5: view
genes like me logo Genes that share phenotypes with GATA5: view

Human Phenotype Ontology for GATA5 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for GATA5 Gene

MGI Knock Outs for GATA5:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for GATA5

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for GATA5 Gene

Localization for GATA5 Gene

Subcellular locations from UniProtKB/Swiss-Prot for GATA5 Gene

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for GATA5 gene
Compartment Confidence
nucleus 5
extracellular 2
cytoskeleton 2
plasma membrane 1
mitochondrion 1
endoplasmic reticulum 1
cytosol 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (2)
  • Nucleoplasm (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for GATA5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000790 nuclear chromatin IEA,ISS --
GO:0005634 nucleus IDA 9566909
GO:0005654 nucleoplasm TAS --
genes like me logo Genes that share ontologies with GATA5: view

Pathways & Interactions for GATA5 Gene

genes like me logo Genes that share pathways with GATA5: view

Pathways by source for GATA5 Gene

2 Qiagen pathways for GATA5 Gene
  • BMP Pathway
  • Thrombin Signaling

SIGNOR curated interactions for GATA5 Gene

Is activated by:

Gene Ontology (GO) - Biological Process for GATA5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003180 aortic valve morphogenesis IEA,ISS --
GO:0003274 endocardial cushion fusion IEA,ISS --
GO:0006355 regulation of transcription, DNA-templated IEA --
GO:0007596 blood coagulation TAS --
GO:0010614 negative regulation of cardiac muscle hypertrophy IEA --
genes like me logo Genes that share ontologies with GATA5: view

Drugs & Compounds for GATA5 Gene

(1) Drugs for GATA5 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(1) Additional Compounds for GATA5 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with GATA5: view

Transcripts for GATA5 Gene

mRNA/cDNA for GATA5 Gene

1 REFSEQ mRNAs :
4 NCBI additional mRNA sequence :
1 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for GATA5

Alternative Splicing Database (ASD) splice patterns (SP) for GATA5 Gene

No ASD Table

Relevant External Links for GATA5 Gene

GeneLoc Exon Structure for
GATA5

Expression for GATA5 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for GATA5 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for GATA5 Gene

This gene is overexpressed in Bladder (x8.4), Testis (x6.7), Fallopian Tube (x6.5), and Stomach (x5.6).

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for GATA5

SOURCE GeneReport for Unigene cluster for GATA5 Gene:

Hs.352250

Evidence on tissue expression from TISSUES for GATA5 Gene

  • Heart(2.6)
  • Intestine(2.4)
  • Muscle(2.2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for GATA5 Gene

Germ Layers:
  • ectoderm
  • mesoderm
Systems:
  • cardiovascular
  • integumentary
  • nervous
  • reproductive
  • skeletal muscle
  • skeleton
Regions:
Head and neck:
  • brain
  • ear
  • eye
  • eyelid
  • face
  • forehead
  • head
  • lip
  • nose
  • outer ear
  • skull
Thorax:
  • heart
  • heart valve
Pelvis:
  • testicle
Limb:
  • digit
  • finger
  • foot
  • hand
  • lower limb
  • toe
  • upper limb
General:
  • blood
  • blood vessel
  • coagulation system
  • skin
genes like me logo Genes that share expression patterns with GATA5: view

No data available for Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners and mRNA Expression by UniProt/SwissProt for GATA5 Gene

Orthologs for GATA5 Gene

This gene was present in the common ancestor of animals.

Orthologs for GATA5 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia GATA5 30 31
  • 99.24 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia GATA5 30 31
  • 84.05 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia GATA5 30 31
  • 81.6 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Gata5 30 17 31
  • 79.68 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Gata5 30
  • 79.09 (n)
Oppossum
(Monodelphis domestica)
Mammalia GATA5 31
  • 68 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia GATA5 31
  • 67 (a)
OneToOne
Chicken
(Gallus gallus)
Aves GATA5 30 31
  • 69.96 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia GATA5 31
  • 63 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia gata5 30
  • 64.8 (n)
African clawed frog
(Xenopus laevis)
Amphibia GATA-5a 30
Zebrafish
(Danio rerio)
Actinopterygii gata5 30 31
  • 63.11 (n)
OneToOne
Fruit Fly
(Drosophila melanogaster)
Insecta grn 32
  • 74 (a)
pnr 31 32
  • 27 (a)
OneToMany
Worm
(Caenorhabditis elegans)
Secernentea elt-1 32
  • 66 (a)
Species where no ortholog for GATA5 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Squirt (Ciona savignyi)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)

Evolution for GATA5 Gene

ENSEMBL:
Gene Tree for GATA5 (if available)
TreeFam:
Gene Tree for GATA5 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for GATA5: view image

Paralogs for GATA5 Gene

Paralogs for GATA5 Gene

(4) SIMAP similar genes for GATA5 Gene using alignment to 3 proteins:

  • GATA5_HUMAN
  • D9ZGF7_HUMAN
  • Q86VU4_HUMAN
genes like me logo Genes that share paralogs with GATA5: view

Variants for GATA5 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for GATA5 Gene

SNP ID Clinical significance and condition Chr 20 pos Variation AA Info Type
636709 Uncertain Significance: not provided 62,473,556(-) G/C MISSENSE_VARIANT
703244 Benign: not provided 62,465,928(-) G/A INTRON_VARIANT
703986 Likely Benign: not provided 62,473,404(-) A/G MISSENSE_VARIANT
704002 Benign: not provided 62,466,417(-) C/A INTRON_VARIANT
704230 Benign: not provided 62,475,030(-) C/G SYNONYMOUS_VARIANT

Additional dbSNP identifiers (rs#s) for GATA5 Gene

Structural Variations from Database of Genomic Variants (DGV) for GATA5 Gene

Variant ID Type Subtype PubMed ID
dgv4343n100 CNV gain 25217958
dgv4344n100 CNV gain 25217958
esv2422398 CNV duplication 17116639
esv2678083 CNV deletion 23128226
esv2722815 CNV deletion 23290073
esv3646290 CNV loss 21293372
nsv1056394 CNV gain 25217958
nsv459065 CNV gain 19166990
nsv459068 CNV gain 19166990
nsv470556 CNV loss 18288195
nsv586496 CNV gain 21841781
nsv586501 CNV gain 21841781
nsv953302 CNV deletion 24416366

Variation tolerance for GATA5 Gene

Gene Damage Index Score: 5.75; 73.40% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for GATA5 Gene

Human Gene Mutation Database (HGMD)
GATA5
SNPedia medical, phenotypic, and genealogical associations of SNPs for
GATA5

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for GATA5 Gene

Disorders for GATA5 Gene

MalaCards: The human disease database

(20) MalaCards diseases for GATA5 Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
congenital heart defects, multiple types, 5
  • chtd5
aortic valve disease 1
  • aovd1
familial atrial fibrillation
  • atrial fibrillation, familial, 1
tetralogy of fallot
  • tof
ventricular septal defect
  • interventricular septal defect
- elite association - COSMIC cancer census association via MalaCards
Search GATA5 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

GATA5_HUMAN
  • Congenital heart defects, multiple types, 5 (CHTD5) [MIM:617912]: A disorder characterized by congenital developmental abnormalities involving structures of the heart. Common defects include transposition of the great arteries, aortic stenosis, atrial septal defect, ventricular septal defect, pulmonic stenosis, patent ductus arteriosus, and tetralogy of Fallot. Some patients also have cardiac arrhythmias, which may be due to the anatomic defect itself or to surgical interventions. CHTD5 inheritance can be autosomal dominant or recessive. {ECO:0000269 PubMed:22483626, ECO:0000269 PubMed:22641149, ECO:0000269 PubMed:22961344, ECO:0000269 PubMed:23031282, ECO:0000269 PubMed:23175127, ECO:0000269 PubMed:23289003, ECO:0000269 PubMed:23295592, ECO:0000269 PubMed:24573614, ECO:0000269 PubMed:24638895, ECO:0000269 PubMed:25543888}. Note=The disease is caused by mutations affecting the gene represented in this entry.
genes like me logo Genes that share disorders with GATA5: view

No data available for Genatlas for GATA5 Gene

Publications for GATA5 Gene

  1. Distinct functions are implicated for the GATA-4, -5, and -6 transcription factors in the regulation of intestine epithelial cell differentiation. (PMID: 9566909) Gao X … Evans T (Molecular and cellular biology 1998) 2 3 23
  2. GATA5 loss-of-function mutation in familial dilated cardiomyopathy. (PMID: 25543888) Zhang XL … Xu YW (International journal of molecular medicine 2015) 3 4
  3. Somatic GATA5 mutations in sporadic tetralogy of Fallot. (PMID: 24573614) Huang RT … Yang YQ (International journal of molecular medicine 2014) 3 4
  4. GATA5 loss-of-function mutations associated with congenital bicuspid aortic valve. (PMID: 24638895) Shi LM … Yang YQ (International journal of molecular medicine 2014) 3 4
  5. Prevalence and spectrum of GATA5 mutations associated with congenital heart disease. (PMID: 23031282) Jiang JQ … Yang YQ (International journal of cardiology 2013) 3 4

Products for GATA5 Gene

  • Signalway ELISA kits for GATA5
  • Signalway Proteins for GATA5

Sources for GATA5 Gene