TTYH2 tweety family member 2
Gene ID: 94015, updated on 18-Sep-2024Gene type: protein coding
Also known as: C17orf29
- See all available tests in GTR for this gene
- Go to complete Gene record for TTYH2
- Go to Variation Viewer for TTYH2 variants
Summary
This gene encodes a member of the tweety family of proteins. Members of this family function as chloride anion channels. The encoded protein functions as a calcium(2+)-activated large conductance chloride(-) channel, and may play a role in kidney tumorigenesis. Two transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]
Genomic context
- Location:
- 17q25.1
- Sequence:
- Chromosome: 17; NC_000017.11 (74213571..74262020)
- Total number of exons:
- 15
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for TTYH2 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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