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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]
TRAPPC2 (Trafficking Protein Particle Complex Subunit 2) is a Protein Coding gene. Diseases associated with TRAPPC2 include Spondyloepiphyseal Dysplasia Tarda, X-Linked and Spondyloepiphyseal Dysplasia Congenita. Among its related pathways are Vesicle-mediated transport and Metabolism of proteins. Gene Ontology (GO) annotations related to this gene include transcription factor binding and ion channel binding. An important paralog of this gene is TRAPPC2B.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005515 | protein binding | IPI | 11134351 |
GO:0008134 | transcription factor binding | IPI | 11134351 |
GO:0044325 | ion channel binding | IPI | 12681486 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000139 | Golgi membrane | IEA | -- |
GO:0005634 | nucleus | IBA,IDA | 25918224 |
GO:0005654 | nucleoplasm | IDA | -- |
GO:0005737 | cytoplasm | IBA | 21873635 |
GO:0005783 | endoplasmic reticulum | IDA | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Transport to the Golgi and subsequent modification | ||
2 | Vesicle-mediated transport | ||
3 | Metabolism of proteins | ||
4 | RAB GEFs exchange GTP for GDP on RABs |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0001501 | skeletal system development | IMP | 10431248 |
GO:0006355 | regulation of transcription, DNA-templated | IDA | 11134351 |
GO:0006888 | ER to Golgi vesicle-mediated transport | IEA,NAS | 10431248 |
GO:0016192 | vesicle-mediated transport | IEA | -- |
GO:0048208 | COPII vesicle coating | TAS | -- |
This gene was present in the common ancestor of eukaryotes.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | TRAPPC2 30 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | -- 31 |
|
OneToMany | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | -- 31 |
|
ManyToMany | |
-- 31 |
|
ManyToMany | |||
Mouse (Mus musculus) |
Mammalia | 0610009B22Rik 31 |
|
ManyToMany | |
Trappc2 30 17 31 |
|
ManyToMany | |||
Dog (Canis familiaris) |
Mammalia | TRAPPC2 30 31 |
|
OneToMany | |
Rat (Rattus norvegicus) |
Mammalia | Trappc2 30 |
|
||
Cow (Bos Taurus) |
Mammalia | TRAPPC2 30 31 |
|
OneToMany | |
Chicken (Gallus gallus) |
Aves | TRAPPC2 30 31 |
|
OneToMany | |
Lizard (Anolis carolinensis) |
Reptilia | -- 31 |
|
ManyToMany | |
-- 31 |
|
ManyToMany | |||
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | trappc2 30 |
|
||
African clawed frog (Xenopus laevis) |
Amphibia | Xl.18543 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | egfl6 31 |
|
ManyToMany | |
trappc2 30 31 |
|
ManyToMany | |||
Dr.16486 30 |
|
||||
African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP002528 30 |
|
||
Fruit Fly (Drosophila melanogaster) |
Insecta | l(3)72Dh 30 31 |
|
OneToMany | |
Worm (Caenorhabditis elegans) |
Secernentea | sedl-1 30 31 |
|
OneToMany | |
A. gosspyii yeast (Eremothecium gossypii) |
Saccharomycetes | AGOS_AGR246W 30 |
|
||
K. Lactis Yeast (Kluyveromyces lactis) |
Saccharomycetes | KLLA0D15763g 30 |
|
||
Baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | TRS20 30 31 33 |
|
OneToMany | |
Thale Cress (Arabidopsis thaliana) |
eudicotyledons | AT1G80500 30 |
|
||
Rice (Oryza sativa) |
Liliopsida | Os02g0613600 30 |
|
||
Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
OneToMany | |
Fission Yeast (Schizosaccharomyces pombe) |
Schizosaccharomycetes | trs20 30 |
|
||
Bread mold (Neurospora crassa) |
Ascomycetes | NCU11174 30 |
|
SNP ID | Clinical significance and condition | Chr 0X pos | Variation | AA Info | Type |
---|---|---|---|---|---|
694600 | Pathogenic: Spondyloepiphyseal dysplasia tarda | 13,716,554(-) |
GAC/G NC_000023.11:g.13716556_13716557CA[1] |
FRAMESHIFT | |
872686 | Pathogenic: not provided | 13,716,089(-) |
T/TTATGAAATA NM_001011658.4(TRAPPC2):c.239-1_239insTATTTCATA |
SPLICE_ACCEPTOR | |
912337 | Uncertain Significance: Spondyloepiphyseal dysplasia tarda | 13,714,099(-) |
C/T NM_001011658.4(TRAPPC2):c.*308G>A |
THREE_PRIME_UTR | |
912338 | Benign: Spondyloepiphyseal dysplasia tarda | 13,714,105(-) |
T/C NM_001011658.4(TRAPPC2):c.*302A>G |
THREE_PRIME_UTR | |
912339 | Uncertain Significance: Spondyloepiphyseal dysplasia tarda | 13,714,144(-) |
A/G NM_001011658.4(TRAPPC2):c.*263T>C |
THREE_PRIME_UTR |