TRAPPC2
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].
| Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
|---|---|---|---|---|---|
| trafficking protein particle complex 2 | MIM:300202 | Ensembl:ENSG00000196459 | HGNC:HGNC:23068 | PA35631 | Xp22.2 |
Gene Categories:
TRANSCRIPTION FACTOR BINDINGGO terms in TRAPPC2
| Term Type | Evidence Type | GO Term ID | GO Des. |
|---|---|---|---|
| CC | IEA | GO:0000139 | Golgi membrane |
| CC | IDA | GO:0005634 | nucleus |
| CC | IDA | GO:0005654 | nucleoplasm |
| CC | IDA | GO:0005783 | endoplasmic reticulum |
| CC | IEA | GO:0005793 | endoplasmic reticulum-Golgi intermediate compartment |
| CC | TAS | GO:0005829 | cytosol |
| CC | IDA | GO:0030008 | TRAPP complex |
| CC | IDA | GO:0043231 | intracellular membrane-bounded organelle |
| CC | IDA | GO:0048471 | perinuclear region of cytoplasm |
| BP | IMP | GO:0001501 | skeletal system development |
| BP | IEA | GO:0006351 | transcription, DNA-templated |
| BP | IDA | GO:0006355 | regulation of transcription, DNA-templated |
| BP | NAS | GO:0006888 | ER to Golgi vesicle-mediated transport |
| BP | TAS | GO:0048208 | COPII vesicle coating |
| MF | IPI | GO:0005515 | protein binding |
| MF | IPI | GO:0008134 | transcription factor binding |
| MF | TAS | GO:0017112 | Rab guanyl-nucleotide exchange factor activity |
| MF | IPI | GO:0044325 | ion channel binding |
Gene expression in normal tissue: TRAPPC2
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Pathways in TRAPPC2
| Database | Pathway ID | Pathway Des. |
|---|---|---|
| reactome | R-HSA-199977 | ER to Golgi Anterograde Transport |
| reactome | R-HSA-199991 | Membrane Trafficking |
| reactome | R-HSA-204005 | COPII-mediated vesicle transport |
| reactome | R-HSA-392499 | Metabolism of proteins |
| reactome | R-HSA-446203 | Asparagine N-linked glycosylation |
| reactome | R-HSA-5653656 | Vesicle-mediated transport |
| reactome | R-HSA-597592 | Post-translational protein modification |
| reactome | R-HSA-8876198 | RAB GEFs exchange GTP for GDP on RABs |
| reactome | R-HSA-9007101 | Rab regulation of trafficking |
| reactome | R-HSA-948021 | Transport to the Golgi and subsequent modification |
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in TRAPPC2
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