TMTC2 transmembrane O-mannosyltransferase targeting cadherins 2
Gene ID: 160335, updated on 2-Nov-2024Gene type: protein coding
Also known as: IBDBP1
- See all available tests in GTR for this gene
- Go to complete Gene record for TMTC2
- Go to Variation Viewer for TMTC2 variants
Summary
The protein encoded by this gene is an integral membrane protein localized to the endoplasmic reticulum (ER). The encoded protein contains many tetratricopeptide repeats, sequences known for being involved in protein-protein interactions. This protein binds both the calcium uptake pump SERCA2B and the carbohydrate-binding chaperone calnexin, and it appears to play a role in calcium homeostasis in the ER. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2016]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| A genome-wide search for loci interacting with known prostate cancer risk-associated genetic variants. GeneReviews: Not available | |
| Genome-wide association study of antibody response to smallpox vaccine. GeneReviews: Not available | |
| Identification of candidate loci at 6p21 and 21q22 in a genome-wide association study of cardiac manifestations of neonatal lupus. GeneReviews: Not available | |
| Meta-analysis of genome-wide association studies identifies novel loci that influence cupping and the glaucomatous process. GeneReviews: Not available |
Genomic context
- Location:
- 12q21.31
- Sequence:
- Chromosome: 12; NC_000012.12 (82686906..83134866)
- Total number of exons:
- 13
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for TMTC2 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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