Entrez gene ID | | 6399 |
Official gene symbol | | TRAPPC2 |
Full name | | trafficking protein particle complex 2 |
Aliases | | ,MIP2A,SEDL,SEDT,TRAPPC2P1,TRS20,ZNF547L,hYP38334, |
Gene 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] |
Location | | Chromosome: X Locus: Xp22 |
Gene position | | 13752754 - 13730361 Map Viewer |
Gene orientation | | minus |
Gene size | | 22394 bp |
Gene sequence |
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OMIM ID | | 300202 |
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