GTF2H1 general transcription factor IIH subunit 1
Gene ID: 2965, updated on 17-Jun-2024Gene type: protein coding
Also known as: P62; BTF2; TFB1; TFIIH
- See all available tests in GTR for this gene
- Go to complete Gene record for GTF2H1
- Go to Variation Viewer for GTF2H1 variants
Summary
Enables thyroid hormone receptor binding activity. Involved in positive regulation of transcription, DNA-templated and transcription by RNA polymerase II. Located in nucleoplasm. Part of transcription factor TFIIH core complex and transcription factor TFIIH holo complex. [provided by Alliance of Genome Resources, Apr 2022]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| An atlas of genetic influences on human blood metabolites. GeneReviews: Not available | |
| Genome-wide association study identifies two novel regions at 11p15.5-p13 and 1p31 with major impact on acute-phase serum amyloid A. GeneReviews: Not available | |
| Genome-wide association study of survival in patients with pancreatic adenocarcinoma. GeneReviews: Not available |
Genomic context
- Location:
- 11p15.1
- Sequence:
- Chromosome: 11; NC_000011.10 (18322567..18367045)
- Total number of exons:
- 18
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for GTF2H1 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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