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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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CD320
CD320 molecule
Chromosome 19 · 19p13.2
NCBI Gene: 51293Ensembl: ENSG00000167775.12HGNC: HGNC:16692UniProt: Q9NPF0
55PubMed Papers
21Diseases
0Drugs
0Pathogenic Variants
CLINICAL
OMIM Disease Gene
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
calcium ion bindingprotein bindingcobalamin bindingcargo receptor activityMethylmalonic aciduria due to transcobalamin receptor defectmethylmalonic acidemia due to transcobalamin receptor defectvitamin B deficiencyvitamin B12 deficiency
✦AI Summary

CD320 is a transmembrane receptor that plays a critical role in vitamin B12 (cobalamin) metabolism by facilitating cellular uptake of transcobalamin-bound cobalamin 1. The receptor is expressed on the luminal surface of intestinal epithelial cells and renal proximal tubules, suggesting roles in both vitamin B12 absorption and reabsorption 2. CD320 functions through receptor-mediated endocytosis, with its cell surface expression dependent on O-glycosylation but not N-glycosylation 3. Beyond vitamin B12 transport, CD320 serves as a costimulatory molecule on follicular dendritic cells, promoting B cell proliferation and differentiation in germinal centers 45. The receptor has emerged as a potential therapeutic target, being overexpressed in many cancers 6. Clinically, CD320 variants can cause transient methylmalonic aciduria in newborns, though most affected individuals show normal cobalamin metabolism beyond infancy 7. Importantly, autoantibodies against CD320 have been identified as causing autoimmune vitamin B12 central deficiency, leading to neurological symptoms despite normal peripheral B12 levels 8. This condition responds to immunosuppression and high-dose B12 supplementation, defining a potential 'anti-CD320-associated syndrome' 9.

Sources cited
1
CD320 is a receptor for transcobalamin-bound cobalamin and plays important role in cobalamin uptake
PMID: 18779389
2
CD320 is expressed on luminal surface of intestinal and renal epithelial cells, suggesting roles in B12 absorption and reabsorption
PMID: 34998874
3
CD320 cell surface expression depends on O-glycosylation but not N-glycosylation
PMID: 39551142
4
CD320 functions as costimulator on follicular dendritic cells promoting B cell responses
PMID: 10727470
5
CD320 promotes B cell differentiation and proliferation in germinal centers
PMID: 11418631
6
CD320 is overexpressed in many cancers and represents potential therapeutic target
PMID: 40565117
7
CD320 variants can cause transient methylmalonic aciduria in newborns
PMID: 35107211
8
Anti-CD320 autoantibodies cause autoimmune vitamin B12 central deficiency with neurological symptoms
PMID: 38924428
9
Anti-CD320 autoantibodies define potential syndrome treatable with high-dose B12 supplementation
PMID: 40280282
Disease Associationsⓘ21
Methylmalonic aciduria due to transcobalamin receptor defectOpen Targets
0.50Moderate
methylmalonic acidemia due to transcobalamin receptor defectOpen Targets
0.46Moderate
vitamin B deficiencyOpen Targets
0.40Weak
vitamin B12 deficiencyOpen Targets
0.39Weak
megaloblastic anemiaOpen Targets
0.39Weak
deficiency anemiaOpen Targets
0.39Weak
Vitamin B12-responsive methylmalonic acidemia type cblBOpen Targets
0.37Weak
ovarian neoplasmOpen Targets
0.32Weak
diabetes mellitusOpen Targets
0.13Weak
type 2 diabetes mellitusOpen Targets
0.13Weak
neoplasmOpen Targets
0.09Suggestive
age-related macular degenerationOpen Targets
0.08Suggestive
HypercholesterolemiaOpen Targets
0.06Suggestive
X-linked retinal dysplasiaOpen Targets
0.06Suggestive
macular degenerationOpen Targets
0.06Suggestive
severe early-childhood-onset retinal dystrophyOpen Targets
0.05Suggestive
Stargardt diseaseOpen Targets
0.05Suggestive
acute pancreatitisOpen Targets
0.05Suggestive
age related macular degeneration 2Open Targets
0.05Suggestive
age related macular degeneration 7Open Targets
0.05Suggestive
Methylmalonic aciduria, transient, due to transcobalamin receptor defectUniProt
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
MTRProtein interaction100%MMUTProtein interaction100%MMAAProtein interaction100%MMABProtein interaction97%LMBRD1Protein interaction83%MMADHCProtein interaction79%
Tissue Expression6 tissues
Brain
100%
Ovary
87%
Heart
84%
Lung
79%
Liver
71%
Bone Marrow
45%
Gene Interaction Network
Click a node to explore
CD320MTRMMUTMMAAMMABLMBRD1MMADHC
PROTEIN STRUCTURE
Preparing viewer…
PDB7QBF · 1.85 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
1.49LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.98 [0.66–1.49]
RankingsWhere CD320 stands among ~20K protein-coding genes
  • #8,179of 20,598
    Most Researched55
  • #15,104of 17,882
    Most Constrained (LOEUF)1.49
Genes detectedCD320
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Transcobalamin receptor antibodies in autoimmune vitamin B12 central deficiency.
PMID: 38924428
Sci Transl Med · 2024
1.00
2
CD320 Receptor and Vitamin B12 as Potential Targets for Anti-Cancer Therapy.
PMID: 40565117
Int J Mol Sci · 2025
0.90
3
CD320 expression and apical membrane targeting in renal and intestinal epithelial cells.
PMID: 34998874
Int J Biol Macromol · 2022
0.80
4
Probing the functional consequence and clinical relevance of CD320 p.E88del, a variant in the transcobalamin receptor gene.
PMID: 35107211
Am J Med Genet A · 2022
0.70
5
Characterization of a Novel Gene in the Extended MHC Region of Mouse, NG29/Cd320, a Homolog of the Human CD320.
PMID: 20157601
Immune Netw · 2009
0.60