TMEM199 transmembrane protein 199
Gene ID: 147007, updated on 17-Jun-2024Gene type: protein coding
Also known as: VPH2; CDG2P; VMA12; C17orf32
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- Go to complete Gene record for TMEM199
- Go to Variation Viewer for TMEM199 variants
Summary
The protein encoded by this gene has been observed to localize to the endoplasmic reticulum (ER)-Golgi intermediate compartment (ERGIC) and coat protein complex I (COPI) in some human cells. The encoded protein shares some homology with the yeast protein Vma12. Defects in this gene are a cause of congenital disorder of glycosylation, type IIp. [provided by RefSeq, Mar 2016]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Meta-analysis of genome-wide association studies identifies two loci associated with circulating osteoprotegerin levels. GeneReviews: Not available | |
| TMEM199-CDG | See labs |
Genomic context
- Location:
- 17q11.2
- Sequence:
- Chromosome: 17; NC_000017.11 (28357647..28363683)
- Total number of exons:
- 6
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for TMEM199 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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