Full name: trafficking protein particle complex subunit 2

Gene type: protein coding

RefSeq status: REVIEWED

Also known as: MIP2A; SEDL; SEDT; TRAPPC2P1; TRS20; ZNF547L; hYP38334

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]

Expression: Ubiquitous expression in lymph node (RPKM 4.2), brain (RPKM 3.5) and 25 other tissues

Gene size: 22376bp

Exon count: 7