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Gene : GABPA Homo sapiens

Name  ? GA binding protein transcription factor subunit alpha Cytological Location  21q21.3
Brief Description  GA binding protein transcription factor subunit alpha
Description  This gene encodes one of three GA-binding protein transcription factor subunits which functions as a DNA-binding subunit. Since this subunit shares identity with a subunit encoding the nuclear respiratory factor 2 gene, it is likely involved in activation of cytochrome oxidase expression and nuclear control of mitochondrial function. This subunit also shares identity with a subunit constituting the transcription factor E4TF1, responsible for expression of the adenovirus E4 gene. Because of its chromosomal localization and ability to form heterodimers with other polypeptides, this gene may play a role in the Down Syndrome phenotype. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Oct 2010]
  • synonyms:
  • NRF2,
  • NRF2A,
  • GA binding protein transcription factor, alpha subunit 60kDa,
  • RCH04A07,
  • GA-binding protein transcription factor, alpha subunit (60kD),
  • E4TF1A,
  • E4TF1-60,
  • human nuclear respiratory factor-2 subunit alpha,
  • nuclear respiratory factor 2 alpha subunit,
  • HGNC:4071,
  • E4TF1-60,
  • E4TF1A,
  • GA binding protein transcription factor alpha subunit,
  • NRF2A,
  • OTTHUMG00000078443,
  • NFT2,
  • NFT2,
  • GABPA,
  • NM_002040,
  • uc002ylx.5,
  • NRF2
  • identifiers:
  • 2551,
  • ENSG00000154727,
  • GABPA

Genome feature

Region: gene ? Length: 37489  
Location: 21:25734972-25772460 Cyto location: 21q21.3


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Function

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Gene --> GO terms.

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]

Genomics

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Proteins

Gene --> Proteins.

SNPs

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Disease

0 Diseases

Gene (Hum OR Rat) --> Mouse Allele (Phenotype)

Gene --> Alleles and Disease (clinVar data)

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]

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Expression

Gene(s) --> Significant SNPs (GTex data)

Gene Ontology

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Other

145 SN Ps

5 Cross References

15 Data Sets

4 Homologues

0 Located Features

97 Rna Seq Results