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Aliases for GATA5 Gene

Aliases for GATA5 Gene

  • GATA Binding Protein 5 2 3 5
  • Transcription Factor GATA-5 3
  • 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 Familial Bicuspid Aortic Valve. Among its related pathways are G-AlphaQ Signaling and BMP Pathway. 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 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 , fRNAdb sequence ontologies 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 1.9 EPDnew Ensembl ENCODE dbSUPER 698.9 -5.5 -5464 20 HDGF PKNOX1 CLOCK FOXA2 ARNT ZFP64 ARID4B SIN3A DMAP1 ZBTB7B GATA5 LOC105372711 DIDO1 ARFGAP1 YTHDF1 TAF4 MTG2 ENSG00000272050 GC20M062490
GH20J062470 Enhancer 0.4 dbSUPER 20 +5.0 5041 0.9 ZNF217 E2F1 CTBP1 GATA5 LOC105372710
GH20J062495 Enhancer 0.9 Ensembl ENCODE dbSUPER 5.1 -19.9 -19942 1 ZNF148 CTCF ZNF614 ZFP36 ZFX RAD21 GC20M062490 GATA5 LOC105372711
GH20J062510 Enhancer 0.6 ENCODE 6.7 -36.7 -36737 3.5 SMARCA5 BCOR REST PCBP2 ZNF316 POLR2A CREB1 KDM1A EMSY DIDO1 ENSG00000260542 GATA5 MTG2 PIR36870
GH20J062236 Promoter/Enhancer 2.5 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 1.6 +237.6 237649 4 HDGF PKNOX1 CLOCK FOXA2 SMAD1 MLX ARID4B NEUROD1 SIN3A DMAP1 OSBPL2 DIDO1 TAF4 MRGBP MTG2 ADRM1 LAMA5-AS1 CABLES2 GATA5 GC20M062290
- 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-2alphaA
  • AP-2alpha isoform 4
  • AP-2alpha isoform 3
  • AP-2alpha isoform 2
  • AP-2alpha

Genomic Locations for GATA5 Gene

Genomic Locations for GATA5 Gene
chr20:62,463,497-62,475,970
(GRCh38/hg38)
Size:
12,474 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

Graphical View of Domain Structure for InterPro Entry

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

No data available for 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).

Gene Ontology (GO) - Molecular Function for GATA5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000977 RNA polymerase II regulatory region sequence-specific DNA binding IBA --
GO:0000981 RNA polymerase II transcription factor activity, sequence-specific DNA binding NAS 19274049
GO:0001085 RNA polymerase II transcription factor binding IBA --
GO:0001158 enhancer sequence-specific DNA binding IEA --
GO:0001228 transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific DNA binding IBA --
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

Clone Products

No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , 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

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:0005634 nucleus IDA 9566909
GO:0005654 nucleoplasm TAS --
GO:0005667 transcription factor complex IBA --
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

Gene Ontology (GO) - Biological Process for GATA5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006351 transcription, DNA-templated IEA --
GO:0006355 regulation of transcription, DNA-templated IEA --
GO:0006366 transcription by RNA polymerase II IEA --
GO:0007507 heart development IBA --
GO:0007596 blood coagulation TAS --
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:

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 34 33
  • 99.24 (n)
OneToOne
dog
(Canis familiaris)
Mammalia GATA5 34 33
  • 84.05 (n)
OneToOne
cow
(Bos Taurus)
Mammalia GATA5 34 33
  • 81.6 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Gata5 16 34 33
  • 79.68 (n)
rat
(Rattus norvegicus)
Mammalia Gata5 33
  • 79.09 (n)
oppossum
(Monodelphis domestica)
Mammalia GATA5 34
  • 68 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia GATA5 34
  • 67 (a)
OneToOne
chicken
(Gallus gallus)
Aves GATA5 34 33
  • 69.96 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia GATA5 34
  • 63 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia gata5 33
  • 64.8 (n)
African clawed frog
(Xenopus laevis)
Amphibia GATA-5a 33
zebrafish
(Danio rerio)
Actinopterygii gata5 34 33
  • 63.11 (n)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta grn 35
  • 74 (a)
pnr 34 35
  • 27 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea elt-1 35
  • 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
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
rs730880111 uncertain-significance, Arterial dissection 62,475,418(-) G/A coding_sequence_variant, missense_variant
rs781802523 uncertain-significance, Thoracic aortic aneurysm and aortic dissection 62,466,484(-) C/T coding_sequence_variant, missense_variant
rs869025434 uncertain-significance, Thoracic aortic aneurysm and aortic dissection 62,475,379(-) C/A 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

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

Disorder Aliases PubMed IDs
congenital heart defects, multiple types, 5
  • chtd5
familial bicuspid aortic valve
  • familial bav
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
  • 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}.
  • Tetralogy of Fallot (TOF) [MIM:187500]: 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=Disease susceptibility may be associated with variations affecting the gene represented in this entry.
  • 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}.
  • 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 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}.

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 22 58
  2. GATA5 loss-of-function mutation in familial dilated cardiomyopathy. (PMID: 25543888) Zhang XL … Xu YW (International journal of molecular medicine 2015) 3 4 58
  3. Somatic GATA5 mutations in sporadic tetralogy of Fallot. (PMID: 24573614) Huang RT … Yang YQ (International journal of molecular medicine 2014) 3 4 58
  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 58
  5. GATA5 loss-of-function mutation responsible for the congenital ventriculoseptal defect. (PMID: 22961344) Wei D … Yang YQ (Pediatric cardiology 2013) 3 4 58

Products for GATA5 Gene

Sources for GATA5 Gene

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