TRAPPC2 trafficking protein particle complex subunit 2
Gene ID: 6399, updated on 5-Mar-2024Gene type: protein coding
Also known as: SEDL; SEDT; MIP2A; TRS20; ZNF547L; hYP38334; TRAPPC2P1
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- Go to complete Gene record for TRAPPC2
- Go to Variation Viewer for TRAPPC2 variants
Summary
The protein encoded by this gene is thought to be part of a large multi-subunit complex involved in the targeting and fusion of endoplasmic reticulum-to-Golgi transport vesicles with their acceptor compartment. In addition, the encoded protein can bind c-myc promoter-binding protein 1 and block its transcriptional repression capability. Mutations in this gene are a cause of spondyloepiphyseal dysplasia tarda (SEDT). A processed pseudogene of this gene is located on chromosome 19, and other pseudogenes are found on chromosomes 8 and Y. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Mar 2010]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Spondyloepiphyseal dysplasia tarda, X-linked | See labs |
Copy number response
| Description |
|---|
| Copy number response Triplosensitivity No evidence available (Last evaluated 2014-01-16) ClinGen Genome Curation PageHaploinsufficency Sufficient evidence for dosage pathogenicity (Last evaluated 2014-01-16) ClinGen Genome Curation PagePubMed |
Genomic context
- Location:
- Xp22.2
- Sequence:
- Chromosome: X; NC_000023.11 (13712245..13734620, complement)
- Total number of exons:
- 7
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for TRAPPC2 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
- TRAPPC2 database
- Variation ViewerRelated Variants
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