TMEM47 transmembrane protein 47
Gene ID: 83604, updated on 17-Sep-2024Gene type: protein coding
Also known as: BCMP1; VAB-9; TM4SF10
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- Go to complete Gene record for TMEM47
- Go to Variation Viewer for TMEM47 variants
Summary
This gene encodes a member of the PMP22/EMP/claudin protein family. The encoded protein is localized to the ER and the plasma membrane. In dogs, transcripts of this gene exist at high levels in the brain. [provided by RefSeq, Jul 2008]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| A genome-wide association study of brain lesion distribution in multiple sclerosis. GeneReviews: Not available |
Genomic context
- Location:
- Xp21.1
- Sequence:
- Chromosome: X; NC_000023.11 (34627075..34657285, complement)
- Total number of exons:
- 3
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for TMEM47 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- Variation ViewerRelated Variants
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