TRPV6 transient receptor potential cation channel subfamily V member 6
Gene ID: 55503, updated on 28-Oct-2024Gene type: protein coding
Also known as: CAT1; CATL; ZFAB; ECAC2; ABP/ZF; HRPTTN; LP6728; HSA277909
- See all available tests in GTR for this gene
- Go to complete Gene record for TRPV6
- Go to Variation Viewer for TRPV6 variants
Summary
This gene encodes a member of a family of multipass membrane proteins that functions as calcium channels. The encoded protein contains N-terminal ankyrin repeats, which are required for channel assembly and regulation. Translation initiation for this protein occurs at a non-AUG start codon that is decoded as methionine. This gene is situated next to a closely related gene for transient receptor potential cation channel subfamily V member 5 (TRPV5). This locus has experienced positive selection in non-African populations, resulting in several non-synonymous codon differences among individuals of different genetic backgrounds. [provided by RefSeq, Feb 2015]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Hyperparathyroidism, transient neonatal | See labs |
Genomic context
- Location:
- 7q34
- Sequence:
- Chromosome: 7; NC_000007.14 (142871208..142885745, complement)
- Total number of exons:
- 15
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for TRPV6 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- Variation ViewerRelated Variants
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