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This gene encodes a protein that interacts with the tethering factor trafficking protein particle (TRAPP complex). TRAPP complexes mediate the contact between vescicles and target membranes, and thus, are involved in vescicle-mediated transport of proteins and lipids. The encoded protein is related to the X-linked trafficking protein particle complex 2. A related pseudogene is located on the X chromosome. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jan 2016]
TRAPPC2L (Trafficking Protein Particle Complex 2 Like) is a Protein Coding gene. Diseases associated with TRAPPC2L include Encephalopathy, Progressive, Early-Onset, With Episodic Rhabdomyolysis and Kbg Syndrome. Among its related pathways are RAB GEFs exchange GTP for GDP on RABs and Transport to the Golgi and subsequent modification. An important paralog of this gene is TRAPPC2B.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005515 | protein binding | IPI | 16189514 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000139 | Golgi membrane | IEA | -- |
GO:0005634 | nucleus | IBA | 21873635 |
GO:0005737 | cytoplasm | IEA,IBA | 21873635 |
GO:0005783 | endoplasmic reticulum | IEA | -- |
GO:0005794 | Golgi apparatus | IEA | -- |
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:0006888 | ER to Golgi vesicle-mediated transport | IEA,IBA | 21873635 |
GO:0016192 | vesicle-mediated transport | IEA | -- |
GO:0048208 | COPII vesicle coating | TAS | -- |
ExUns: | 1a | · | 1b | · | 1c | · | 1d | ^ | 2a | · | 2b | · | 2c | ^ | 3a | · | 3b | ^ | 4a | · | 4b | · | 4c | ^ | 5a | · | 5b | ^ | 6a | · | 6b | · | 6c | · | 6d | · | 6e | · | 6f | · | 6g |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | - | - | - | - | - | |||||||||||||||||||||||||||||||||||
SP2: | - | - | - | - | - | - | |||||||||||||||||||||||||||||||||||
SP3: | - | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||
SP4: | - | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||
SP5: | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||
SP6: | - | - | - | ||||||||||||||||||||||||||||||||||||||
SP7: | - | - | - | - | - | - | - | - | |||||||||||||||||||||||||||||||||
SP8: | - | - | |||||||||||||||||||||||||||||||||||||||
SP9: | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||
SP10: | - | ||||||||||||||||||||||||||||||||||||||||
SP11: | - |
This gene was present in the common ancestor of eukaryotes.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | TRAPPC2L 30 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | TRAPPC2L 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Trappc2l 30 |
|
||
Cow (Bos Taurus) |
Mammalia | TRAPPC2L 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Trappc2l 30 17 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | TRAPPC2L 30 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | TRAPPC2L 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | TRAPPC2L 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | TRAPPC2L 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | trappc2l 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | trappc2l 30 |
|
||
Fruit Fly (Drosophila melanogaster) |
Insecta | CG9067 30 31 |
|
OneToOne | |
African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP013488 30 |
|
||
Worm (Caenorhabditis elegans) |
Secernentea | T10F2.5 31 |
|
OneToOne | |
Thale Cress (Arabidopsis thaliana) |
eudicotyledons | AT2G20930 30 |
|
||
Rice (Oryza sativa) |
Liliopsida | Os09g0541500 30 |
|
||
Sea Squirt (Ciona savignyi) |
Ascidiacea | CSA.6514 31 |
|
OneToOne |
SNP ID | Clinical significance and condition | Chr 16 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
709490 | Likely Benign: not provided | 88,856,776(+) | C/T | SYNONYMOUS_VARIANT,FIVE_PRIME_UTR_VARIANT | |
780321 | Likely Benign: not provided | 88,856,854(+) | C/T | SYNONYMOUS_VARIANT,FIVE_PRIME_UTR_VARIANT | |
803285 | Likely Pathogenic: ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH EPISODIC RHABDOMYOLYSIS | 89,268,648(+) | G/A | MISSENSE_VARIANT | |
803286 | Pathogenic: ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH EPISODIC RHABDOMYOLYSIS | 89,282,396(+) | C/CT | FRAMESHIFT_VARIANT | |
803287 | Pathogenic: ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH EPISODIC RHABDOMYOLYSIS | 89,282,938(+) | A/AG | FRAMESHIFT_VARIANT |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
dgv3065n100 | CNV | gain | 25217958 |
dgv37n68 | CNV | loss | 17160897 |
esv3639555 | CNV | gain | 21293372 |
esv3639561 | CNV | gain | 21293372 |
nsv1061256 | CNV | gain | 25217958 |
nsv1063024 | CNV | gain | 25217958 |
nsv1063441 | CNV | loss | 25217958 |
nsv471115 | CNV | loss | 18288195 |
nsv482951 | CNV | loss | 15286789 |
nsv521217 | CNV | loss | 19592680 |
nsv573674 | CNV | gain | 21841781 |
nsv819907 | CNV | gain | 19587683 |
nsv952071 | CNV | deletion | 24416366 |
Disorder | Aliases | PubMed IDs |
---|---|---|
encephalopathy, progressive, early-onset, with episodic rhabdomyolysis |
|
|
kbg syndrome |
|
|
spondyloepiphyseal dysplasia tarda, x-linked |
|
|