TRAPPC2

The protein encoded by this gene 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. 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 pseuodogenes are found on chromosomes 8 and Y. Alternatively spliced transcript variants encoding distinct isoforms or having different 5' UTRs, have been found for this gene. [provided by RefSeq]

Full Name

trafficking protein particle complex 2

Function

Prevents transcriptional repression and induction of cell death by ENO1 (By similarity).
May play a role in vesicular transport from endoplasmic reticulum to Golgi.

Biological Process

Biological Process COPII vesicle coating Source:ComplexPortal1 Publication
Biological Process endoplasmic reticulum to Golgi vesicle-mediated transport Source:GO_Central1 Publication
Biological Process skeletal system development Source:UniProtKB1 Publication
Biological Process vesicle coating Source:ComplexPortal1 Publication
Biological Process vesicle tethering Source:ComplexPortal1 Publication

Cellular Location

Cytoplasm, perinuclear region
Endoplasmic reticulum-Golgi intermediate compartment
Nucleus
Cytoplasm
Localized in perinuclear granular structures.

Involvement in disease

Spondyloepiphyseal dysplasia tarda (SEDT):
X-linked recessive disorder of endochondral bone formation.