CD320

Chr 19p13.2

CD320 molecule

Aliases:: 8D6, 8D6A, TCblR, TCN2R, sCD320
MANE:: ENST00000301458.10

OMIM: 606475 ↗NCBI: 51293 ↗Ensembl ↗

Annotations refreshed 1 month ago.

Predicted protein structure

AlphaFold predicted structure

CD320 · Q9NPF0

v62025-08-01

Predicted Aligned Error matrix for CD320 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

63.8/ 100

Low

282 residues

Confidence breakdown

Very high(≥ 90)13%
Confident(70–90)22%
Low(50–70)33%
Very low(< 50)32%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Moderate Evidence (Amber)

Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomal
Hyperammonaemia
Undiagnosed metabolic disorders
Unknown

Disease associations (Open Targets)

Methylmalonic aciduria due to transcobalamin receptor defect
0.51
vitamin B12 deficiency
0.50
megaloblastic anemia
0.48
vitamin B deficiency
0.48
methylmalonic acidemia due to transcobalamin receptor defect
0.47
deficiency anemia
0.47
Vitamin B12-responsive methylmalonic acidemia type cblB
0.38
ovarian neoplasm
0.30
type 2 diabetes mellitus
0.27
diabetes mellitus
0.27

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

CD320 antigen

Receptor for transcobalamin saturated with cobalamin (TCbl) (PubMed:18779389). Plays an important role in cobalamin uptake (PubMed:18779389, PubMed:20524213). Plasma membrane protein that is expressed on follicular dendritic cells (FDC) and mediates interaction with germinal center B cells (PubMed:10727470). Functions as costimulator to promote B cell responses to antigenic stimuli; promotes B cell differentiation and proliferation (PubMed:10727470, PubMed:11418631). Germinal center-B (GC-B) cells differentiate into memory B-cells and plasma cells (PC) through interaction with T-cells and follicular dendritic cells (FDC) (PubMed:11418631). CD320 augments the proliferation of PC precursors generated by IL-10 (PubMed:11418631)