GTF2H3 general transcription factor IIH subunit 3
Gene ID: 2967, updated on 5-Mar-2024Gene type: protein coding
Also known as: P34; BTF2; TFB4; TFIIH
- See all available tests in GTR for this gene
- Go to complete Gene record for GTF2H3
- Go to Variation Viewer for GTF2H3 variants
Summary
This gene encodes a member of the TFB4 family. The encoded protein is a subunit of the core-TFIIH basal transcription factor and localizes to the nucleus. The encoded protein is involved in RNA transcription by RNA polymerase II and nucleotide excision repair and associates with the Cdk-activating kinase complex. Alternative splicing results in multiple transcript variants. A related pseudogene has been identified on chromosome 14. [provided by RefSeq, Dec 2012]
Genomic context
- Location:
- 12q24.31
- Sequence:
- Chromosome: 12; NC_000012.12 (123633829..123662604)
- Total number of exons:
- 13
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for GTF2H3 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- Variation ViewerRelated Variants
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