TMEM216 transmembrane protein 216
Gene ID: 51259, updated on 17-Sep-2024Gene type: protein coding
Also known as: HSPC244
- See all available tests in GTR for this gene
- Go to complete Gene record for TMEM216
- Go to Variation Viewer for TMEM216 variants
Summary
This locus encodes a transmembrane domain-containing protein. Mutations at this locus have been associated with Meckel-Gruber Syndrome Type 2, and Joubert Syndrome 2, also known as Cerebello-oculorenal Syndrome 2. [provided by RefSeq, Aug 2010]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Joubert syndrome 2 | See labs |
| Meckel syndrome, type 2 | See labs |
Genomic context
- Location:
- 11q12.2
- Sequence:
- Chromosome: 11; NC_000011.10 (61392587..61398846)
- Total number of exons:
- 5
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for TMEM216 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
- TMEM216 database
- Variation ViewerRelated Variants
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