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This gene encodes the transcobalamin receptor that is expressed at the cell surface. It mediates the cellular uptake of transcobalamin bound cobalamin (vitamin B12), and is involved in B-cell proliferation and immunoglobulin secretion. Mutations in this gene are associated with methylmalonic aciduria. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Jan 2011]
CD320 (CD320 Molecule) is a Protein Coding gene. Diseases associated with CD320 include Methylmalonic Aciduria, Transient, Due To Transcobalamin Receptor Defect and Methylmalonic Acidemia Due To Transcobalamin Receptor Defect. Among its related pathways are HIV Life Cycle and Diseases of metabolism. Gene Ontology (GO) annotations related to this gene include growth factor activity and cobalamin binding. An important paralog of this gene is LDLRAD2.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005509 | calcium ion binding | IDA | 27411955 |
GO:0005515 | protein binding | IPI | 27411955 |
GO:0008083 | growth factor activity | IEA | -- |
GO:0015420 | cobalamin-transporting ATPase activity | TAS | -- |
GO:0031419 | cobalamin binding | IDA | 18779389 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005783 | endoplasmic reticulum | IDA | -- |
GO:0005886 | plasma membrane | IDA,TAS | -- |
GO:0005887 | integral component of plasma membrane | IDA | 10727470 |
GO:0010008 | endosome membrane | TAS | -- |
GO:0016020 | membrane | IEA,HDA | 19946888 |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Diseases of metabolism | ||
2 | Metabolism of water-soluble vitamins and cofactors | ||
3 | Cobalamin (Cbl, vitamin B12) transport and metabolism | ||
4 | HIV Life Cycle |
.45
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5 | Metabolism |
.40
|
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0007165 | signal transduction | IEA | -- |
GO:0009235 | cobalamin metabolic process | TAS | -- |
GO:0015889 | cobalamin transport | IMP | 18779389 |
GO:0030890 | positive regulation of B cell proliferation | IMP | 10727470 |
GO:0031296 | B cell costimulation | IMP | 10727470 |
Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
---|---|---|---|---|---|---|
Cobalamin | Experimental | Pharma | 457 |
This gene was present in the common ancestor of mammals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | CD320 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | CD320 30 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Cd320 30 |
|
||
Cow (Bos Taurus) |
Mammalia | CD320 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Cd320 30 17 31 |
|
OneToOne |
SNP ID | Clinical significance and condition | Chr 19 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
841109 | Uncertain Significance: Methylmalonic aciduria due to transcobalamin receptor defect | 8,303,953(-) |
C/A NM_016579.4(CD320):c.404G>T (p.Gly135Val) |
MISSENSE | |
848693 | Uncertain Significance: Methylmalonic aciduria due to transcobalamin receptor defect | 8,304,023(-) |
C/T NM_016579.4(CD320):c.334G>A (p.Gly112Ser) |
MISSENSE | |
851092 | Uncertain Significance: Methylmalonic aciduria due to transcobalamin receptor defect | 8,302,552(-) |
G/T NM_016579.4(CD320):c.760C>A (p.Arg254=) |
SYNONYMOUS | |
857328 | Uncertain Significance: Methylmalonic aciduria due to transcobalamin receptor defect | 8,305,087(-) |
G/C NM_016579.4(CD320):c.212C>G (p.Thr71Ser) |
MISSENSE_VARIANT,INTRON | |
938841 | Uncertain Significance: Methylmalonic aciduria due to transcobalamin receptor defect | 8,302,604(-) |
C/T NM_016579.4(CD320):c.708G>A (p.Ala236=) |
SYNONYMOUS |
Disorder | Aliases | PubMed IDs |
---|---|---|
methylmalonic aciduria, transient, due to transcobalamin receptor defect |
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methylmalonic acidemia due to transcobalamin receptor defect |
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anal gland adenocarcinoma |
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anus adenocarcinoma |
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spleen angiosarcoma |
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