Aliases for TRAPPC2 Gene
External Ids for TRAPPC2 Gene
Previous HGNC Symbols for TRAPPC2 Gene
Previous GeneCards Identifiers for TRAPPC2 Gene
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]
GeneCards Summary for TRAPPC2 Gene
TRAPPC2 (Trafficking Protein Particle Complex 2) is a Protein Coding gene. Diseases associated with TRAPPC2 include Spondyloepiphyseal Dysplasia Tarda, X-Linked and Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations. Among its related pathways are Metabolism of proteins and Transport to the Golgi and subsequent modification. Gene Ontology (GO) annotations related to this gene include transcription factor binding and ion channel binding. An important paralog of this gene is TRAPPC2B.
UniProtKB/Swiss-Prot for TRAPPC2 Gene
Prevents transcriptional repression and induction of cell death by ENO1 (By similarity). May play a role in vesicular transport from endoplasmic reticulum to Golgi.