TMEM138 transmembrane protein 138
Gene ID: 51524, updated on 17-Jun-2024Gene type: protein coding
Also known as: HSPC196
- See all available tests in GTR for this gene
- Go to complete Gene record for TMEM138
- Go to Variation Viewer for TMEM138 variants
Summary
This gene encodes a multi-pass transmembrane protein. Reduced expression of this gene in mouse fibroblasts causes short cilia and failure of ciliogenesis. Expression of this gene is tightly coordinated with expression of the neighboring gene TMEM216. Mutations in this gene are associated with the autosomal recessive neurodevelopmental disorder Joubert Syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 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 16 | See labs |
Genomic context
- Location:
- 11q12.2
- Sequence:
- Chromosome: 11; NC_000011.10 (61362374..61376870)
- Total number of exons:
- 7
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for TMEM138 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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