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
  • GATA-Binding Protein 5 2
  • GATA Binding Factor-5 3
  • GATA-Binding Factor 5 4
  • BB379O24.1 3
  • CHTD5 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 Congenital Heart Defects, Multiple Types, 5 and Aortic Valve Disease 1. Among its related pathways are DREAM Repression and Dynorphin Expression and Factors involved in megakaryocyte development and platelet production. 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

Additional gene information 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 for GATA5 Gene

Promoters and enhancers for GATA5 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH20J062471 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 798.9 -5.4 -5439 20 ZBTB40 CTCF RBPJ SMARCE1 USF2 NR2F6 HLF L3MBTL2 HDGF MNT GATA5 LOC105372711 lnc-RPS21-4 YTHDF1 DIDO1 TAF4 MRGBP MTG2 ENSG00000272050 lnc-GATA5-4
GH20J062470 Enhancer 0.3 dbSUPER 20 +5.1 5066 0.9 CTBP1 ZNF217 GATA5 HSALNG0131530
GH20J062510 Enhancer 0.9 Ensembl ENCODE CraniofacialAtlas 6.7 -36.7 -36712 3.5 REST POLR2A ZNF316 CREB1 BCOR FOS KDM1A EMSY SMARCA5 ENSG00000260542 GATA5 MTG2 HSALNG0131536
GH20J062492 Enhancer 1.1 Ensembl ENCODE CraniofacialAtlas dbSUPER 5.1 -19.3 -19306 4.2 CTCF ZNF148 REST SCRT2 SMARCA5 ESRRA SMC3 PRDM4 BCOR ZNF335 GATA5 ENSG00000260542 lnc-GATA5-4 LOC105372711
GH20J062234 Promoter/Enhancer 2.5 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 1.6 +238.8 238752 6.3 SP1 SREBF1 MLX RBPJ USF2 NR2F6 FOS MIXL1 NFYC ELF1 OSBPL2 lnc-HRH3-1 DIDO1 TAF4 MRGBP GID8 MTG2 MIR1-1HG-AS1 ADRM1 RPL7P3
- 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 UCSC Golden Path with GeneCards custom track

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=Translation N-terminally shortened.; 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

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:0000978 RNA polymerase II proximal promoter sequence-specific DNA binding IBA 21873635
GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific IEA,NAS 19274049
GO:0001158 enhancer sequence-specific DNA binding IEA --
GO:0003677 DNA binding IEA --
GO:0003700 DNA-binding transcription factor activity IDA 14986113
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

miRNA for GATA5 Gene

miRTarBase miRNAs that target GATA5

Inhibitory RNA Products

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

Clone Products

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 1
cytoskeleton 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 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 ISS,IEA --
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) Additional mRNA sequences :
(30) Selected AceView cDNA sequences:
(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

Clone Products

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 from GTEx, Illumina, BioGPS, and CGAP 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).

NURSA nuclear receptor signaling pathways regulating expression of GATA5 Gene:

GATA5

SOURCE GeneReport for Unigene cluster for GATA5 Gene:

Hs.352250

Evidence on tissue expression from TISSUES for GATA5 Gene

  • Heart(2.1)

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 33 32
  • 99.24 (n)
OneToOne
dog
(Canis familiaris)
Mammalia GATA5 33 32
  • 84.05 (n)
OneToOne
cow
(Bos Taurus)
Mammalia GATA5 33 32
  • 81.6 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Gata5 17 33 32
  • 79.68 (n)
rat
(Rattus norvegicus)
Mammalia Gata5 32
  • 79.09 (n)
oppossum
(Monodelphis domestica)
Mammalia GATA5 33
  • 68 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia GATA5 33
  • 67 (a)
OneToOne
chicken
(Gallus gallus)
Aves GATA5 33 32
  • 69.96 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia GATA5 33
  • 63 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia gata5 32
  • 64.8 (n)
African clawed frog
(Xenopus laevis)
Amphibia GATA-5a 32
zebrafish
(Danio rerio)
Actinopterygii gata5 33 32
  • 63.11 (n)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta grn 34
  • 74 (a)
pnr 33 34
  • 27 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea elt-1 34
  • 66 (a)
Species where no ortholog for GATA5 was found in the sources mined by GeneCards:
  • 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)
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 from dbSNP and Humsavar for GATA5 Gene

SNP ID Clin Chr 20 pos Variation AA Info Type
rs111554140 uncertain-significance, not provided, Congenital heart defects, multiple types, 5 (CHTD5) [MIM:617912] 62,475,098(-) A/G coding_sequence_variant, missense_variant
rs113068438 likely-benign, Thoracic aortic aneurysm and aortic dissection, - 62,475,514(-) T/C coding_sequence_variant, missense_variant
rs145205240 uncertain-significance, Aortic valve disorder, Thoracic aortic aneurysm and aortic dissection 62,464,871(-) G/A coding_sequence_variant, missense_variant
rs1555896778 pathogenic, CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 5, Congenital heart defects, multiple types, 5 (CHTD5) [MIM:617912] 62,473,504(-) A/C coding_sequence_variant, missense_variant
rs1555896779 pathogenic, CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 5, Congenital heart defects, multiple types, 5 (CHTD5) [MIM:617912] 62,473,507(-) G/C coding_sequence_variant, missense_variant

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

(7) MalaCards diseases for GATA5 Gene - From: HGMD, OMIM, ClinVar, Orphanet, DISEASES, and GeneCards

- 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.

Additional Disease Information for 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 (Molecular and cellular biology 1998) 2 3 23 56
  2. GATA5 loss-of-function mutation in familial dilated cardiomyopathy. (PMID: 25543888) Zhang XL … Xu YW (International journal of molecular medicine 2015) 3 4 56
  3. 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 56
  4. Somatic GATA5 mutations in sporadic tetralogy of Fallot. (PMID: 24573614) Huang RT … Yang YQ (International journal of molecular medicine 2014) 3 4 56
  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 56

Products for GATA5 Gene

Sources for GATA5 Gene