TMEM107 transmembrane protein 107
Gene ID: 84314, updated on 14-Nov-2024Gene type: protein coding
Also known as: MKS13; JBTS29; GRVS638; PRO1268
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- Go to complete Gene record for TMEM107
- Go to Variation Viewer for TMEM107 variants
Summary
This gene encodes a transmembrane protein and component of the primary cilia transition zone. The encoded protein regulates ciliogenesis and ciliary protein composition. Human fibroblasts expressing a mutant allele of this gene exhibit reduced numbers of cilia, altered cilia length, and impaired sonic hedgehog signaling. In human patients, different mutations in this gene cause different ciliopathies, including Meckel-Gruber syndrome and orofaciodigital syndrome. [provided by RefSeq, May 2017]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Meckel syndrome 13 | See labs |
| Orofaciodigital syndrome 16 | See labs |
Genomic context
- Location:
- 17p13.1
- Sequence:
- Chromosome: 17; NC_000017.11 (8172457..8176380, complement)
- Total number of exons:
- 5
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for TMEM107 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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