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Gene : GTF2H5 Homo sapiens

Name  ? general transcription factor IIH subunit 5 Cytological Location  6q25.3
Brief Description  general transcription factor IIH subunit 5
Description  This gene encodes a subunit of transcription/repair factor TFIIH, which functions in gene transcription and DNA repair. This protein stimulates ERCC3/XPB ATPase activity to trigger DNA opening during DNA repair, and is implicated in regulating cellular levels of TFIIH. Mutations in this gene result in trichothiodystrophy, complementation group A. [provided by RefSeq, Mar 2009]
  • synonyms:
  • GTF2H5,
  • TTD,
  • DNA repair syndrome trichothiodystrophy group A,
  • trichothiodystrophy,
  • general transcription factor IIH, polypeptide 5,
  • TTD,
  • OTTHUMG00000015906,
  • NM_207118,
  • TGF2H5,
  • TFB5,
  • TTDA,
  • TTD-A,
  • bA120J8.2,
  • AK055106,
  • FLJ30544,
  • C6orf175,
  • TTD3,
  • TFIIH,
  • TFB5,
  • bA120J8.2,
  • TTDA,
  • uc003qrd.4,
  • TTD-A,
  • HGNC:21157,
  • chromosome 6 open reading frame 175,
  • C6orf175,
  • TFIIH
  • identifiers:
  • 404672,
  • ENSG00000272047,
  • GTF2H5

Genome feature

Region: gene ? Length: 31029  
Location: 6:158168316-158199344 Cyto location: 6q25.3


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49 Pathways

Gene --> GO terms.

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]

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Proteins

Gene --> Proteins.

SNPs

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Disease

1 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

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Other

49 Pathways

3753 SN Ps

5 Cross References

18 Data Sets

6 Homologues

0 Located Features

97 Rna Seq Results