TRPM3 transient receptor potential cation channel subfamily M member 3
Gene ID: 80036, updated on 2-Nov-2024Gene type: protein coding
Also known as: GON-2; MLSN2; LTRPC3; NEDFSS; CTRCT50
- See all available tests in GTR for this gene
- Go to complete Gene record for TRPM3
- Go to Variation Viewer for TRPM3 variants
Summary
The product of this gene belongs to the family of transient receptor potential (TRP) channels. TRP channels are cation-selective channels important for cellular calcium signaling and homeostasis. The protein encoded by this gene mediates calcium entry, and this entry is potentiated by calcium store depletion. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Cataract 50 with or without glaucoma | not available |
| Genome-wide association and longitudinal analyses reveal genetic loci linking pubertal height growth, pubertal timing and childhood adiposity. GeneReviews: Not available | |
| Joint influence of small-effect genetic variants on human longevity. GeneReviews: Not available | |
| Neurodevelopmental disorder with hypotonia, dysmorphic facies, and skeletal anomalies, with or without seizures | not available |
Genomic context
- Location:
- 9q21.12-q21.13
- Sequence:
- Chromosome: 9; NC_000009.12 (70529060..71446971, complement)
- Total number of exons:
- 30
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for TRPM3 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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