ENSG00000196459


Homo sapiens

Features
Gene ID: ENSG00000196459
  
Biological name :TRAPPC2
  
Synonyms : P0DI81 / P0DI82 / trafficking protein particle complex 2 / TRAPPC2
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: X
Strand: -1
Band: p22.2
Gene start: 13712244
Gene end: 13734635
  
Corresponding Affymetrix probe sets: 1562349_at (Human Genome U133 Plus 2.0 Array)   209751_s_at (Human Genome U133 Plus 2.0 Array)   219351_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000428900
Ensembl peptide - ENSP00000369953
Ensembl peptide - ENSP00000392495
Ensembl peptide - ENSP00000430725
Ensembl peptide - ENSP00000352708
NCBI entrez gene - 6399     See in Manteia.
NCBI entrez gene - 10597     See in Manteia.
OMIM - 300202
RefSeq - XM_011545566
RefSeq - NM_001011658
RefSeq - NM_001128835
RefSeq - NM_014563
RefSeq - XM_011545565
RefSeq Peptide - NP_001011658
RefSeq Peptide - NP_001122307
RefSeq Peptide - NP_001342133
RefSeq Peptide - NP_055378
swissprot - P0DI81
swissprot - F5H785
swissprot - P0DI82
swissprot - Q6IBE5
swissprot - E5RFG0
Ensembl - ENSG00000196459
  
Related genetic diseases (OMIM): 313400 - Spondyloepiphyseal dysplasia tarda, 313400
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 Q08CN0ENSDARG00000097660Danio rerio
 TRAPPC2ENSGALG00000016578Gallus gallus
 0610009B22RikENSMUSG00000007777Mus musculus
 Q9CQP2ENSMUSG00000079317Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
P0DI82 / TRAPPC2B / trafficking protein particle complex 2BENSG0000025606080


Protein motifs (from Interpro)
Interpro ID Name
 IPR006722  Trafficking protein particle complex subunit 2
 IPR011012  Longin-like domain superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0001501 skeletal system development IMP
 biological_processGO:0006351 transcription, DNA-templated IEA
 biological_processGO:0006355 regulation of transcription, DNA-templated IDA
 biological_processGO:0006888 ER to Golgi vesicle-mediated transport NAS
 biological_processGO:0016192 vesicle-mediated transport IEA
 biological_processGO:0048208 COPII vesicle coating TAS
 biological_processGO:0065009 regulation of molecular function IEA
 cellular_componentGO:0000139 Golgi membrane IEA
 cellular_componentGO:0005622 intracellular IEA
 cellular_componentGO:0005634 nucleus ISS
 cellular_componentGO:0005654 nucleoplasm IDA
 cellular_componentGO:0005737 cytoplasm IEA
 cellular_componentGO:0005783 endoplasmic reticulum IDA
 cellular_componentGO:0005793 endoplasmic reticulum-Golgi intermediate compartment IEA
 cellular_componentGO:0005829 cytosol TAS
 cellular_componentGO:0030008 TRAPP complex IDA
 cellular_componentGO:0043231 intracellular membrane-bounded organelle IDA
 cellular_componentGO:0048471 perinuclear region of cytoplasm IDA
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0008134 transcription factor binding IPI
 molecular_functionGO:0017112 Rab guanyl-nucleotide exchange factor activity TAS
 molecular_functionGO:0044325 ion channel binding IPI


Pathways (from Reactome)
Pathway description
COPII-mediated vesicle transport
RAB GEFs exchange GTP for GDP on RABs


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0000470 Short neck 
Show

 HP:0000914 Shield chest 
Show

 HP:0000926 Platyspondyly 
Show

 HP:0001376 Decreased mobility of joints 
Show

 HP:0001419 X-linked recessive inheritance "A mode of inheritance that is observed for recessive traits related to a gene encoded on the X chromosome. In the context of medical genetics, X-linked recessive disorders manifest in males (who have one copy of the X chromosome and are thus hemizygotes), but generally not in female heterozygotes who have one mutant and one normal allele." [HPO:curators]
Show

 HP:0001552 Barrel-shaped chest 
Show

 HP:0002650 Scoliosis "The presence of an abnormal lateral curvature of the spine." [HPO:curators]
Show

 HP:0002655 Spondyloepiphyseal dysplasia 
Show

 HP:0002808 Kyphosis 
Show

 HP:0002812 Coxa vara 
Show

 HP:0002829 Arthralgia 
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 HP:0002866 Hypoplastic iliac wings 
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 HP:0002938 Lumbar hyperlordosis 
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 HP:0002942 Thoracic kyphosis 
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 HP:0003090 Small capital femoral epiphyses 
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 HP:0003311 Hypoplastic odontoid process 
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 HP:0003498 Short stature, disproportionate 
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 HP:0003521 Short stature, disproportionate (short trunk) 
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 HP:0004594 hump-shaped mound of bone in central and posterior portions of vertebral endplate 
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 HP:0005930 Abnormality of the epiphyses 
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 HP:0007759 Corneal opacities, not impairing visual acuity 
Show

 HP:0008843 Hip osteoarthritis 
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 HP:0009824 Hypoplasia involving bones of the upper limbs 
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 HP:0010306 Short thorax "Reduced inferior to superior extent of the thorax." [HPO:curators]
Show

 HP:0010582 Irregular epiphyses 
Show

 HP:0100864 Hypoplasia of the femoral neck 
Show

  


Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

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