Aliases for GATA5 Gene
Aliases for GATA5 Gene
External Ids for GATA5 Gene
- HGNC: 15802
- Entrez Gene: 140628
- Ensembl: ENSG00000130700
- OMIM: 611496
- UniProtKB: Q9BWX5
Previous GeneCards Identifiers for GATA5 Gene
- GC20M060803
- GC20M061676
- GC20M061723
- GC20M060471
- GC20M061038
- GC20M057816
Summaries 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 Familial Atrial Fibrillation and Tetralogy Of Fallot. Among its related pathways are DREAM Repression and Dynorphin Expression and G-AlphaQ Signaling. 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 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).
No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for GATA5 Gene
Genomics for GATA5 Gene
Regulatory Elements for GATA5 Gene
Enhancers for GATA5 Gene
| GeneHancer Identifier | Enhancer Score | Enhancer Sources | Gene-Enhancer Score | TSS distance (kb) | Number of Genes Away | Size (kb) | Transcription Factor Binding Sites within enhancer | Gene Targets for Enhancer |
|---|---|---|---|---|---|---|---|---|
| GH20G062471 | 1.6 | Ensembl ENCODE dbSUPER | 48.9 | -5.5 | -5465 | 20.0 | HDGF PKNOX1 AGO1 ZFP64 ARID4B SIN3A DMAP1 ZBTB7B ZNF766 FOS | GATA5 ARFGAP1 MTG2 LOC105372711 GC20M062490 |
| GH20G062470 | 0.6 | dbSUPER | 20 | +5.0 | 5041 | 0.9 | SUZ12 NFIB PLRG1 ZBTB7A E2F1 CTBP1 ZNF366 ZNF207 ZBTB17 | GATA5 LOC105372710 |
| GH20G062495 | 1.1 | Ensembl ENCODE dbSUPER | 5.1 | -19.9 | -19943 | 1.0 | CTCF MAZ PCBP1 ZFX RAD21 HNRNPL EZH2 | GATA5 GC20M062490 LOC105372711 |
| GH20G062510 | 0.7 | ENCODE | 6.7 | -36.7 | -36737 | 3.5 | BCOR SMARCA5 ESRRA RBBP5 REST ZBTB7A ZNF316 SMARCA4 POLR2A KDM1A | ENSG00000260542 GATA5 MTG2 PIR36870 |
| GH20G062300 | 1.8 | FANTOM5 ENCODE dbSUPER | 1.5 | +172.2 | 172180 | 5.7 | MLX CREB3L1 AGO1 FEZF1 DMAP1 YY1 SLC30A9 ZNF143 ZNF548 SP3 | ENSG00000226332 GID8 LAMA5 LAMA5-AS1 CABLES2 ADRM1 OSBPL2 GATA5 |
- Elite enhancer and/or Elite enhancer-gene association
Download GeneHancer data dump
Enhancers around GATA5 on UCSC Golden Path with GeneCards custom track
- Transcription factor binding sites by QIAGEN in the GATA5 gene promoter:
Regulatory Element Products
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:
-
- 20q13.33 by Ensembl
- 20q13.33 by Entrez Gene
- 20q13.33 by HGNC
GATA5 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene 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
- 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};
Post-translational modifications for GATA5 Gene
Other Protein References for GATA5 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- R&D Systems Antibodies for GATA5 (GATA-5)
-
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-
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Protein Products
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Assay Products
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No data available for DME Specific Peptides for GATA5 Gene
Domains & Families for GATA5 Gene
Gene Families for GATA5 Gene
Protein Domains for GATA5 Gene
Suggested Antigen Peptide Sequences for GATA5 Gene
- GenScript: Design optimal peptide antigens:
Graphical View of Domain Structure for InterPro Entry
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).
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0000977 | RNA polymerase II regulatory region sequence-specific DNA binding | IBA | -- |
| 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 binding | IBA | -- |
| GO:0003677 | DNA binding | IEA | -- |
Phenotypes for GATA5 Gene
- MGI mutant phenotypes for GATA5:
-
inferred from 4 alleles
- mortality/aging
- cellular phenotype
- behavior/neurological phenotype
- immune system phenotype
- muscle phenotype
- homeostasis/metabolism phenotype
- cardiovascular system phenotype
- digestive/alimentary phenotype
- reproductive system phenotype
- endocrine/exocrine gland phenotype
- integument phenotype
- skeleton phenotype
- renal/urinary system phenotype
- GenomeRNAi human phenotypes for GATA5:
Animal Model Products
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-
-
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-
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CRISPR Products
-
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-
Santa Cruz Biotechnology (SCBT) CRISPR for GATA5
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miRNA for GATA5 Gene
- miRTarBase miRNAs that target GATA5
miRNA Products
- Search ViGene Biosciences for GATA5
Inhibitory RNA Products
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-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
Cell Line Products
-
Horizon Cell Lines for GATA5
-
ViGene Biosciences adenoviral particle packaged cDNA for GATA5 gene
-
ViGene Biosciences lentiviral particle packaged cDNA for GATA5 gene
-
ViGene Biosciences ready-to-package AAV shRNAs for GATA5 gene
Flow Cytometry 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
- Nucleus.
| Compartment | Confidence |
|---|---|
| nucleus | 5 |
| extracellular | 1 |
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005634 | nucleus | IDA | 9566909 |
| GO:0005654 | nucleoplasm | TAS | -- |
| GO:0005667 | transcription factor complex | IBA | -- |
Pathways & Interactions for GATA5 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | DREAM Repression and Dynorphin Expression |
.44
|
|
| 2 | G-AlphaQ Signaling | ||
| 3 | Factors involved in megakaryocyte development and platelet production | ||
| 4 | Response to elevated platelet cytosolic Ca2+ |
.44
|
|
Pathways by source for GATA5 Gene
2 Reactome pathways for GATA5 Gene
2 Qiagen pathways for GATA5 Gene
Interacting Proteins 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 from RNA polymerase II promoter | IEA | -- |
| GO:0007596 | blood coagulation | TAS | -- |
| GO:0045893 | positive regulation of transcription, DNA-templated | IEA | -- |
No data available for SIGNOR curated interactions for GATA5 Gene
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
CRISPR Products
-
OriGene CRISPR knockouts for GATA5
-
Santa Cruz Biotechnology (SCBT) CRISPR for GATA5
- GenScript: Design CRISPR guide RNA sequences for GATA5
miRNA Products
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Inhibitory RNA Products
- Origene shRNA, siRNA, and RNAi products in human, mouse, rat for GATA5
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-
ViGene Biosciences ready-to-package AAV shRNAs for GATA5 gene
Clone Products
-
OriGene ORF clones in human for GATA5
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat
- VectorBuilder custom plasmid, inducible vectors for GATA5
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for GATA5
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
Flow Cytometry Products
Expression for GATA5 Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
-
Heart (Cardiovascular System)
- Endocardial Tube Cells Endocardium
- Cushion Mesenchymal Cells Endocardium
- Endocardial Cells Endocardium
-
Gut Tube (Gastrointestinal Tract)
- Foregut Endoderm Cells Foregut
- Ventral Foregut Endoderm Cells Ventral Foregut Endoderm
-
Lung (Respiratory System)
- Airway Smooth Muscle Cells Trachea
- Early Lung Mesoderm Cells Lung Mesoderm
-
Smooth Muscle (Muscoskeletal System)
- Airway Smooth Muscle Cells Trachea
-
Epithelial Cells
- Ventral Foregut Endoderm Cells Ventral Foregut Endoderm
-
Testis (Reproductive System)
-
Stomach (Gastrointestinal Tract)
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:
GATA5SOURCE GeneReport for Unigene cluster for GATA5 Gene:
Hs.352250Evidence 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
Organs:
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
Primer Products
-
OriGene qPCR primer pairs for GATA5
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.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | GATA5 34 35 |
|
||
| dog (Canis familiaris) |
Mammalia | GATA5 34 35 |
|
||
| cow (Bos Taurus) |
Mammalia | GATA5 34 35 |
|
||
| mouse (Mus musculus) |
Mammalia | Gata5 34 16 35 |
|
||
| rat (Rattus norvegicus) |
Mammalia | Gata5 34 |
|
||
| oppossum (Monodelphis domestica) |
Mammalia | GATA5 35 |
|
OneToOne | |
| platypus (Ornithorhynchus anatinus) |
Mammalia | GATA5 35 |
|
OneToOne | |
| chicken (Gallus gallus) |
Aves | GATA5 34 35 |
|
||
| lizard (Anolis carolinensis) |
Reptilia | GATA5 35 |
|
OneToOne | |
| tropical clawed frog (Silurana tropicalis) |
Amphibia | gata5 34 |
|
||
| African clawed frog (Xenopus laevis) |
Amphibia | GATA-5a 34 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | gata5 34 35 |
|
||
| fruit fly (Drosophila melanogaster) |
Insecta | grn 36 |
|
|
|
| pnr 35 36 |
|
OneToMany | |||
| worm (Caenorhabditis elegans) |
Secernentea | elt-1 36 |
|
|
- 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)
Paralogs for GATA5 Gene
Variants for GATA5 Gene
| SNP ID | Clin | Chr 20 pos | Sequence Context | AA Info | Type |
|---|---|---|---|---|---|
| rs113068438 | Likely benign | 62,475,514(-) | GTACC(A/G)GAGCC | reference, missense | |
| rs145205240 | Uncertain significance | 62,464,871(+) | TTGGC(A/G)CAGAG | reference, missense | |
| rs730880111 | Uncertain significance | 62,475,418(-) | TGTGC(C/T)GCCGG | reference, missense | |
| rs781802523 | Uncertain significance | 62,466,484(+) | AGTTC(C/T)GCCGC | reference, missense | |
| rs869025434 | Uncertain significance | 62,475,379(-) | GTCCG(G/T)GTGTG | reference, missense |
| 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 |
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
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for GATA5 Gene
Disorders for GATA5 Gene
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| familial atrial fibrillation |
|
|
| tetralogy of fallot |
|
|
| aortic disease |
|
|
| ventricular septal defect |
|
|
| conotruncal heart malformations |
|
|
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
No data available for Genatlas for GATA5 Gene
Publications for GATA5 Gene
- 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 22 64
- GATA5 loss-of-function mutation in familial dilated cardiomyopathy. (PMID: 25543888) Zhang X.L. … Xu Y.W. (Int. J. Mol. Med. 2015) 3 4 64
- Somatic GATA5 mutations in sporadic tetralogy of Fallot. (PMID: 24573614) Huang R.T. … Yang Y.Q. (Int. J. Mol. Med. 2014) 3 4 64
- GATA5 loss-of-function mutations associated with congenital bicuspid aortic valve. (PMID: 24638895) Shi L.M. … Yang Y.Q. (Int. J. Mol. Med. 2014) 3 4 64
- GATA5 loss-of-function mutation responsible for the congenital ventriculoseptal defect. (PMID: 22961344) Wei D. … Yang Y.Q. (Pediatr Cardiol 2013) 3 4 64
Products for GATA5 Gene
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- antibodies-online Antibodies for GATA5: See all 62
- antibodies-online Kits for GATA5: See all 36
- antibodies-online Proteins for GATA5: See all 8
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- GeneTex GATA5 antibody for GATA5
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- ViGene Biosciences adenoviral particle packaged cDNA for GATA5 gene
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- Horizon Cell Lines for GATA5
- Cyagen custom Knockout/knockin (KOKI) mouse models for GATA5
- VectorBuilder custom plasmid, inducible vectors for GATA5
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for GATA5
- VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
Sources for GATA5 Gene
- (1) GeneCards
- (2) HGNC
- (3) EntrezGene
- (4) Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
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