ENSG00000167775


Homo sapiens

Features
Gene ID: ENSG00000167775
  
Biological name :CD320
  
Synonyms : CD320 / CD320 molecule / Q9NPF0
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 19
Strand: -1
Band: p13.2
Gene start: 8302127
Gene end: 8308356
  
Corresponding Affymetrix probe sets: 218529_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000301458
Ensembl peptide - ENSP00000437697
Ensembl peptide - ENSP00000471551
Ensembl peptide - ENSP00000471773
NCBI entrez gene - 51293     See in Manteia.
OMIM - 606475
RefSeq - NM_016579
RefSeq - NM_001165895
RefSeq Peptide - NP_001159367
RefSeq Peptide - NP_057663
swissprot - Q9NPF0
swissprot - M0R100
swissprot - M0R1C4
Ensembl - ENSG00000167775
  
Related genetic diseases (OMIM): 613646 - Methylmalonic aciduria, transient, due to transcobalamin receptor defect, 613646
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
 Cd320ENSMUSG00000002308Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
No match


Protein motifs (from Interpro)
Interpro ID Name
 IPR002172  Low-density lipoprotein (LDL) receptor class A repeat
 IPR023415  Low-density lipoprotein (LDL) receptor class A, conserved site
 IPR036055  LDL receptor-like superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0009235 cobalamin metabolic process TAS
 biological_processGO:0010469 regulation of signaling receptor activity IEA
 biological_processGO:0015889 cobalamin transport IMP
 biological_processGO:0030656 regulation of vitamin metabolic process IEA
 biological_processGO:0030890 positive regulation of B cell proliferation IMP
 biological_processGO:0031296 B cell costimulation IMP
 cellular_componentGO:0005783 endoplasmic reticulum IDA
 cellular_componentGO:0005886 plasma membrane IDA
 cellular_componentGO:0005887 integral component of plasma membrane IDA
 cellular_componentGO:0010008 endosome membrane TAS
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0016021 integral component of membrane IEA
 cellular_componentGO:0070062 extracellular exosome HDA
 molecular_functionGO:0005509 calcium ion binding IDA
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0008083 growth factor activity IEA
 molecular_functionGO:0031419 cobalamin binding IDA
 molecular_functionGO:0046872 metal ion binding IEA


Pathways (from Reactome)
Pathway description
Cobalamin (Cbl, vitamin B12) transport and metabolism
Defective CD320 causes methylmalonic aciduria


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0000007 Autosomal recessive inheritance "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in homozygotes. In the context of medical genetics, autosomal recessive disorders manifest in homozygotes (with two copies of the mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele)." [HPO:curators]
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 HP:0012120 Methylmalonic aciduria "Increased concentration of `methylmalonic acid` (CHEBI:30860) in the urine." [HPO:probinson]
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSG00000185339 TCN2 / P20062 / transcobalamin 2  / complex / reaction






 

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