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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 Subunit 2L) is a Protein Coding gene. Diseases associated with TRAPPC2L include Encephalopathy, Progressive, Early-Onset, With Episodic Rhabdomyolysis and Mucopolysaccharidosis, Type Iva. Among its related pathways are Vesicle-mediated transport and Metabolism of proteins. 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 | 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 |
---|---|---|---|---|---|
837574 | Uncertain Significance: Mucopolysaccharidosis, MPS-IV-A | 88,856,754(+) |
T/C NM_000512.5(GALNS):c.120+4A>G |
INTRON | |
843497 | Uncertain Significance: Mucopolysaccharidosis, MPS-IV-A | 88,856,812(+) |
C/A NM_000512.5(GALNS):c.66G>T (p.Met22Ile) |
MISSENSE_VARIANT,FIVE_PRIME_UTR | |
847815 | Pathogenic: Mucopolysaccharidosis, MPS-IV-A | 88,856,760(+) |
C/G NM_000512.5(GALNS):c.118G>C (p.Asp40His) |
MISSENSE_VARIANT,FIVE_PRIME_UTR | |
847816 | Pathogenic: Mucopolysaccharidosis, MPS-IV-A | 88,856,757(+) |
C/G NM_000512.5(GALNS):c.120+1G>C |
SPLICE_DONOR | |
870481 | Likely Pathogenic: Mucopolysaccharidosis, MPS-IV-A | 88,856,762(+) |
T/C NM_000512.5(GALNS):c.116A>G (p.Asp39Gly) |
MISSENSE_VARIANT,FIVE_PRIME_UTR |
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 |
|
|
mucopolysaccharidosis, type iva |
|
|
kbg syndrome |
|
|
mucopolysaccharidosis iv |
|
|
spondyloepiphyseal dysplasia tarda, x-linked |
|
|