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Aliases for GATA5 Gene

Aliases for GATA5 Gene

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

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 single ventricular septal defect and familial atrial fibrillation. Among its related pathways are Platelet activation, signaling and aggregation and Factors involved in megakaryocyte development and platelet production. GO annotations related to this gene include transcription factor activity, sequence-specific DNA binding and transcription regulatory region DNA binding. An important paralog of this gene is GATA3.

UniProtKB/Swiss-Prot 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 Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for GATA5 Gene

Genomics for GATA5 Gene

Regulatory Elements for GATA5 Gene

Genomic Location for GATA5 Gene

Chromosome:
20
Start:
62,463,497 bp from pter
End:
62,475,970 bp from pter
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=Translation N-terminally shortened.; Evidence={ECO:0000305};

neXtProt entry for GATA5 Gene

Proteomics data for GATA5 Gene at MOPED

Post-translational modifications for GATA5 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for GATA5 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

No data available for DME Specific Peptides for GATA5 Gene

Domains & Families for GATA5 Gene

Gene Families for GATA5 Gene

Suggested Antigen Peptide Sequences for GATA5 Gene

Graphical View of Domain Structure for InterPro Entry

Q9BWX5

UniProtKB/Swiss-Prot:

GATA5_HUMAN :
  • Contains 2 GATA-type zinc fingers.
Similarity:
  • Contains 2 GATA-type zinc fingers.
genes like me logo Genes that share domains with GATA5: view

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).

Gene Ontology (GO) - Molecular Function for GATA5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001085 RNA polymerase II transcription factor binding IBA --
GO:0001158 enhancer sequence-specific DNA binding IEA --
GO:0043565 sequence-specific DNA binding IEA --
GO:0044212 transcription regulatory region DNA binding IEA,IDA 9566909
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

miRNA for GATA5 Gene

miRTarBase miRNAs that target 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
Jensen Localization Image for GATA5 Gene COMPARTMENTS Subcellular localization image for GATA5 gene
Compartment Confidence
nucleus 4

No data available for Gene Ontology (GO) - Cellular Components for GATA5 Gene

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

Gene Ontology (GO) - Biological Process for GATA5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007507 heart development IBA --
GO:0045893 positive regulation of transcription, DNA-templated IEA --
genes like me logo Genes that share ontologies with GATA5: view

No data available for SIGNOR curated interactions for GATA5 Gene

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

(2) REFSEQ mRNAs :
(3) Additional mRNA sequences :
(30) Selected AceView cDNA sequences:
(1) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for GATA5 Gene

GATA binding protein 5:
Representative Sequences:

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

No ASD Table

Relevant External Links for GATA5 Gene

GeneLoc Exon Structure for
GATA5
ECgene alternative splicing isoforms for
GATA5

Expression for GATA5 Gene

mRNA expression in normal human tissues 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).

SOURCE GeneReport for Unigene cluster for GATA5 Gene Hs.352250

genes like me logo Genes that share expression patterns with GATA5: view

Primer Products

In Situ Assay Products

No data available for Protein differential expression in normal tissues , Protein expression , mRNA Expression by UniProt/SwissProt and Protein tissue co-expression partners 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
cow
(Bos Taurus)
Mammalia GATA5 35
  • 81.6 (n)
  • 77.97 (a)
GATA5 36
  • 76 (a)
OneToOne
dog
(Canis familiaris)
Mammalia GATA5 35
  • 84.05 (n)
  • 79.13 (a)
GATA5 36
  • 78 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Gata5 35
  • 79.68 (n)
  • 76.83 (a)
Gata5 16
Gata5 36
  • 75 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia GATA5 35
  • 99.24 (n)
  • 99.75 (a)
GATA5 36
  • 95 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Gata5 35
  • 79.09 (n)
  • 77.58 (a)
oppossum
(Monodelphis domestica)
Mammalia GATA5 36
  • 68 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia GATA5 36
  • 67 (a)
OneToOne
chicken
(Gallus gallus)
Aves GATA5 35
  • 69.96 (n)
  • 66.58 (a)
GATA5 36
  • 65 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia GATA5 36
  • 63 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia gata5 35
  • 64.8 (n)
  • 60.27 (a)
African clawed frog
(Xenopus laevis)
Amphibia GATA-5a 35
zebrafish
(Danio rerio)
Actinopterygii gata5 35
  • 63.11 (n)
  • 60.11 (a)
gata5 36
  • 57 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta grn 37
  • 74 (a)
pnr 37
  • 80 (a)
pnr 36
  • 27 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea elt-1 37
  • 66 (a)
Species with no ortholog for GATA5:
  • A. gosspyii yeast (Ashbya 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 squirt (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)

Paralogs for GATA5 Gene

Paralogs for GATA5 Gene

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

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

Variants for GATA5 Gene

Sequence variations from dbSNP and Humsavar for GATA5 Gene

SNP ID Clin Chr 20 pos Sequence Context AA Info Type
VAR_067699 -
VAR_067700 -
VAR_067701 -
VAR_073070 -
VAR_073071 -

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

Variant ID Type Subtype PubMed ID
nsv913047 CNV Loss 21882294
esv2422398 CNV Duplication 17116639
nsv470556 CNV Loss 18288195
dgv4603n71 CNV Loss 21882294
nsv459065 CNV Gain 19166990
nsv913073 CNV Loss 21882294
nsv913077 CNV Loss 21882294
dgv4608n71 CNV Loss 21882294
dgv4609n71 CNV Loss 21882294
nsv913083 CNV Loss 21882294
dgv4610n71 CNV Loss 21882294
nsv459068 CNV Gain 19166990
dgv1341e1 CNV Complex 17122850
essv22589 CNV CNV 17122850
esv2722815 CNV Deletion 23290073
esv2678083 CNV Deletion 23128226

Variation tolerance for GATA5 Gene

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

Relevant External Links for GATA5 Gene

HapMap Linkage Disequilibrium report
GATA5
Human Gene Mutation Database (HGMD)
GATA5

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

Disorders for GATA5 Gene

MalaCards: The human disease database

(9) MalaCards diseases for GATA5 Gene - From: Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
single ventricular septal defect
familial atrial fibrillation
  • atrial fibrillation, familial, 1
tetralogy of fallot
  • tetrology of fallot
heart disease
  • congestive heart failure
congenital heart disease
  • congenital anomaly of heart
- 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
  • Note=Rare variants in GATA5 may be a cause of susceptibility to aortic valve disease (AOVD). AOVD is a common defect in the aortic valve in which two rather than three leaflets are present. It is often associated with aortic valve calcification, stenosis and insufficiency. In extreme cases, the blood flow may be so restricted that the left ventricle fails to grow, resulting in hypoplastic left heart syndrome. {ECO:0000269 PubMed:24638895}.
  • Note=Rare variants in GATA5 may be a cause of susceptibility to atrial fibrillation, a common sustained cardiac rhythm disturbance. Atrial fibrillation is characterized by disorganized atrial electrical activity and ineffective atrial contraction promoting blood stasis in the atria and reduces ventricular filling. It can result in palpitations, syncope, thromboembolic stroke, and congestive heart failure. {ECO:0000269 PubMed:22483626, ECO:0000269 PubMed:23175127, ECO:0000269 PubMed:23295592}.
  • Note=Rare variants in GATA5 may be a cause of susceptibility to dilated cardiomyopathy (CMD). CMD is a disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death. {ECO:0000269 PubMed:22641149, ECO:0000269 PubMed:25543888}.
  • Note=Rare variants in GATA5 may be a cause of susceptibility to Tetraology of Fallot (TOF) [MIM:187500]. TOF is a congenital heart anomaly which consists of pulmonary stenosis, ventricular septal defect, dextroposition of the aorta (aorta is on the right side instead of the left) and hypertrophy of the right ventricle. In this condition, blood from both ventricles (oxygen-rich and oxygen-poor) is pumped into the body often causing cyanosis. {ECO:0000269 PubMed:23289003, ECO:0000269 PubMed:24573614}.
  • Note=Rare variants in GATA5 may be a cause of susceptibility to ventriculoseptal defect (VSD). VSD is a congenital heart disease which may lead to cardiac enlargement, ventricular dysfunction or heart failure, poor quality of life, pulmonary hypertension, Eisenmengers syndrome, delayed fetal brain development, arrhythmias, and even sudden cardiac death in the absence of surgical treatment or transcatheter repair. {ECO:0000269 PubMed:22961344}.

Relevant External Links for GATA5

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
GATA5
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. (Mol. Cell. Biol. 1998) 2 3 23 67
  2. Methylation of GATA-4 and GATA-5 and development of sporadic gastric carcinomas. (PMID: 20222162) Wen X.Z. … Deng D.J. (World J. Gastroenterol. 2010) 3 23
  3. Evaluation of GATA-4 and GATA-5 methylation profiles in human pancreatic cancers indicate promoter methylation patterns distinct from other human tumor types. (PMID: 17912029) Fu B. … Iacobuzio-Donahue C.A. (Cancer Biol. Ther. 2007) 3 23
  4. Involvement of GATA-4/-5 transcription factors in ovarian carcinogenesis. (PMID: 16337738) Wakana K. … Yuasa Y. (Cancer Lett. 2006) 3 23
  5. Hypermethylation of the GATA gene family in esophageal cancer. (PMID: 16823849) Guo M. … Herman J.G. (Int. J. Cancer 2006) 3 23

Products for GATA5 Gene

Sources for GATA5 Gene

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