TRAPPC2 | |||||||||||||||||||||||||||||||||||||||||||||||||||
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Identifiers | |||||||||||||||||||||||||||||||||||||||||||||||||||
Aliases | TRAPPC2 , MIP2A, SEDL, SEDT, TRAPPC2P1, TRS20, ZNF547L, hYP38334, trafficking protein particle complex 2, trafficking protein particle complex subunit 2 | ||||||||||||||||||||||||||||||||||||||||||||||||||
External IDs | OMIM: 300202; MGI: 1913476; HomoloGene: 5436; GeneCards: TRAPPC2; OMA:TRAPPC2 - orthologs | ||||||||||||||||||||||||||||||||||||||||||||||||||
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Wikidata | |||||||||||||||||||||||||||||||||||||||||||||||||||
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Trafficking protein particle complex subunit 2 (TRAPPC2) also known as MBP-1-interacting protein 2A (MIP-2A) is a protein that in humans is encoded by the TRAPPC2 gene. [4] [5] A processed pseudogene of this gene is located on chromosome 19, and other pseuodogenes of it are found on chromosome 8 and the Y chromosome. Two transcript variants encoding the same protein have been found for this gene. [5]
Trafficking protein particle complex subunit 2 is thought to be part of a large multisubunit 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 MBP1 and block its transcriptional repression capability. [5]
The TRAPPC2 gene is located on the X-chromosome at position 22 between base-pairs 13,712,241 to 13,734,634. [6]
Mutations in this gene are a cause of X-linked spondyloepiphyseal dysplasia tarda (SEDT). [5]
TRAPPC2 has been shown to interact with Alpha-enolase [7] and CLIC1. [8]