TMEM127 transmembrane protein 127
Gene ID: 55654, updated on 14-Nov-2024Gene type: protein coding
- See all available tests in GTR for this gene
- Go to complete Gene record for TMEM127
- Go to Variation Viewer for TMEM127 variants
Summary
This gene encodes a transmembrane protein with four predicted transmembrane domains. The protein is associated with a subpopulation of vesicular organelles corresponding to early endosomal structures, with the Golgi, and with lysosomes, and may participate in protein trafficking between these structures. Mutations in this gene and several other genes cause pheochromocytomas. Alternatively spliced transcript variants encoding the same protein have been identified. [provided by RefSeq, Aug 2022]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Pheochromocytoma | See labs |
Copy number response
| Description |
|---|
| Copy number response Haploinsufficency Sufficient evidence for dosage pathogenicity (Last evaluated 2021-07-13) ClinGen Genome Curation PagePubMedTriplosensitivity No evidence available (Last evaluated 2021-07-13) ClinGen Genome Curation Page |
Genomic context
- Location:
- 2q11.2
- Sequence:
- Chromosome: 2; NC_000002.12 (96248514..96265997, 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 TMEM127 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
- TMEM127 gene homepage - transmembrane protein 127
- Variation ViewerRelated Variants
IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in the GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.