ENSG00000157259


Homo sapiens

Features
Gene ID: ENSG00000157259
  
Biological name :GATAD1
  
Synonyms : GATAD1 / GATA zinc finger domain containing 1 / Q8WUU5
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 7
Strand: 1
Band: q21.2
Gene start: 92447448
Gene end: 92459432
  
Corresponding Affymetrix probe sets: 208503_s_at (Human Genome U133 Plus 2.0 Array)   213018_at (Human Genome U133 Plus 2.0 Array)   214718_at (Human Genome U133 Plus 2.0 Array)   242634_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000493785
Ensembl peptide - ENSP00000287957
NCBI entrez gene - 57798     See in Manteia.
OMIM - 614518
RefSeq - NM_021167
RefSeq Peptide - NP_066990
swissprot - Q8WUU5
Ensembl - ENSG00000157259
  
Related genetic diseases (OMIM): 614672 - ?Cardiomyopathy, dilated, 2B, 614672

This gene has been taged as a transcription factor by TFT
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 gatad1ENSDARG00000027612Danio rerio
 GATAD1ENSGALG00000009399Gallus gallus
 Gatad1ENSMUSG00000007415Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
No match


Protein motifs (from Interpro)
Interpro ID Name
 IPR000679  Zinc finger, GATA-type
 IPR013088  Zinc finger, NHR/GATA-type


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0006355 regulation of transcription, DNA-templated IEA
 biological_processGO:0006357 regulation of transcription by RNA polymerase II IEA
 biological_processGO:0031497 chromatin assembly IDA
 cellular_componentGO:0005634 nucleus IEA
 cellular_componentGO:0005654 nucleoplasm IDA
 molecular_functionGO:0000981 RNA polymerase II transcription factor activity, sequence-specific DNA binding ISM
 molecular_functionGO:0003700 DNA-binding transcription factor activity IEA
 molecular_functionGO:0008270 zinc ion binding IEA
 molecular_functionGO:0043565 sequence-specific DNA binding IEA
 molecular_functionGO:0046872 metal ion binding IEA


Pathways (from Reactome)
Pathway description
No match


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0000007 Autosomal recessive inheritance "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in homozygotes. In the context of medical genetics, autosomal recessive disorders manifest in homozygotes (with two copies of the mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele)." [HPO:curators]
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 HP:0000407 Hearing loss, sensorineural "Hearing loss caused by damage or dysfunction of the auditory nerve (cranial nerve VIII)." [HPO:curators]
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 HP:0000982 Palmoplantar keratoderma 
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 HP:0001635 Congestive heart failure "The presence of an abnormality of cardiac function that is responsible for the failure of the heart to pump blood at a rate that is commensurate with the needs of the tissues or a state in which abnormally elevated filling pressures are required for the heart to do so. Heart failure is frequently related to a defect in myocardial contraction." [HPO:curators]
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 HP:0001644 Dilated cardiomyopathy 
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 HP:0001874 Abnormality of neutrophil 
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 HP:0003198 Myopathy 
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 HP:0003236 Elevated serum creatine phosphokinase 
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 HP:0003457 Abnormal EMG findings "Abnormal results of investigations using electromyography (EMG)." [HPO:curators]
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 HP:0005110 Atrial fibrillation 
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 HP:0100578 Lipoatrophy "Localized loss of fat tissue." [HPO:sdoelken]
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

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