TMEM237 transmembrane protein 237
Gene ID: 65062, updated on 5-Mar-2024Gene type: protein coding
Also known as: JBTS14; ALS2CR4
- See all available tests in GTR for this gene
- Go to complete Gene record for TMEM237
- Go to Variation Viewer for TMEM237 variants
Summary
The protein encoded by this gene is a tetraspanin protein that is thought to be involved in WNT signaling. Defects in this gene are a cause of Joubert syndrome-14. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2012]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Familial aplasia of the vermis MedGen: C0431399GeneReviews: Joubert Syndrome | See labs |
| Joubert syndrome 14 | See labs |
Genomic context
- Location:
- 2q33.1
- Sequence:
- Chromosome: 2; NC_000002.12 (201620186..201643503, complement)
- Total number of exons:
- 14
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for TMEM237 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
- TMEM237 @ LOVD
- Variation ViewerRelated Variants
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