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Gene : ERCC3 Homo sapiens

Name  ? ERCC excision repair 3, TFIIH core complex helicase subunit Cytological Location  2q14.3
Brief Description  ERCC excision repair 3, TFIIH core complex helicase subunit
Description  This gene encodes an ATP-dependent DNA helicase that functions in nucleotide excision repair. The encoded protein is a subunit of basal transcription factor 2 (TFIIH) and, therefore, also functions in class II transcription. Mutations in this gene are associated with Xeroderma pigmentosum B, Cockayne's syndrome, and trichothiodystrophy. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2014]
  • synonyms:
  • TFIIH,
  • OTTHUMG00000131530,
  • NM_000122,
  • TTD2,
  • uc002toh.1,
  • GTF2H,
  • excision repair cross-complementation group 3,
  • xeroderma pigmentosum group B complementing,
  • M31899,
  • RAD25,
  • XPB,
  • BTF2,
  • excision repair cross-complementing rodent repair deficiency, complementation group 3,
  • ERCC3,
  • BTF2,
  • XPB,
  • RAD25,
  • HGNC:3435
  • identifiers:
  • 2071,
  • ENSG00000163161,
  • ERCC3

Genome feature

Region: gene ? Length: 36877  
Location: 2:127257290-127294166 reverse strand Cyto location: 2q14.3


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49 Pathways

Gene --> GO terms.

Gene -> HPO annotation (Human Phenotype Ontology)

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Proteins

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Disease

2 Diseases

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

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Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]

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Other

49 Pathways

3753 SN Ps

5 Cross References

20 Data Sets

6 Homologues

0 Located Features

97 Rna Seq Results