CD320 (CD320 molecule)

Gene

• Entrez ID: 51293
• Gene name: CD320 molecule
• Gene symbol: CD320
• Synonyms (NCBI Gene): 8D6, 8D6A, TCBLR, TCII-R, TCN2R, sCD320
• Chromosome: 19
• Chromosome location: 19p13.2
• Summary: 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 g

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs150384171	CTC>-	Uncertain-significance, conflicting-interpretations-of-pathogenicity, benign-likely-benign, other	Coding sequence variant, inframe deletion, intron variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT045905	hsa-miR-125b-5p	CLASH	23622248
MIRT040769	hsa-miR-18a-3p	CLASH	23622248
MIRT1959467	hsa-miR-302f	CLIP-seq
MIRT1959468	hsa-miR-3064-3p	CLIP-seq
MIRT1959469	hsa-miR-4715-3p	CLIP-seq
MIRT2196444	hsa-miR-122	CLIP-seq
MIRT2196445	hsa-miR-1265	CLIP-seq
MIRT2196446	hsa-miR-214	CLIP-seq
MIRT1959467	hsa-miR-302f	CLIP-seq
MIRT1959468	hsa-miR-3064-3p	CLIP-seq
MIRT2196447	hsa-miR-3611	CLIP-seq
MIRT2196448	hsa-miR-3619-5p	CLIP-seq
MIRT2196449	hsa-miR-4433	CLIP-seq
MIRT2196450	hsa-miR-4503	CLIP-seq
MIRT2196451	hsa-miR-4711-3p	CLIP-seq
MIRT1959469	hsa-miR-4715-3p	CLIP-seq
MIRT2196452	hsa-miR-4722-5p	CLIP-seq
MIRT2196453	hsa-miR-4764-5p	CLIP-seq
MIRT2196454	hsa-miR-761	CLIP-seq
MIRT2196455	hsa-miR-891b	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005509	Function	Calcium ion binding	IDA	27411955
GO:0005515	Function	Protein binding	IPI	27411955
GO:0005783	Component	Endoplasmic reticulum	IDA
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IDA	10727470, 18779389
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	TAS
GO:0007165	Process	Signal transduction	IEA
GO:0008083	Function	Growth factor activity	IEA
GO:0015889	Process	Cobalamin transport	IEA
GO:0015889	Process	Cobalamin transport	IMP	18779389, 20524213
GO:0015889	Process	Cobalamin transport	TAS
GO:0016020	Component	Membrane	HDA	19946888
GO:0016020	Component	Membrane	IEA
GO:0016192	Process	Vesicle-mediated transport	IEA
GO:0030656	Process	Regulation of vitamin metabolic process	IEA
GO:0030890	Process	Positive regulation of B cell proliferation	IMP	10727470
GO:0031296	Process	B cell costimulation	IMP	10727470
GO:0031419	Function	Cobalamin binding	IDA	18779389
GO:0038024	Function	Cargo receptor activity	EXP	15652495
GO:0038024	Function	Cargo receptor activity	IEA
GO:0046872	Function	Metal ion binding	IEA

Other IDs

• MIM: 606475
• HGNC: 16692
• e!Ensembl: ENSG00000167775

Protein

• UniProt ID: Q9NPF0
• Protein name: CD320 antigen (8D6 antigen) (FDC-signaling molecule 8D6) (FDC-SM-8D6) (Transcobalamin receptor) (TCblR) (CD antigen CD320)
• Protein function: 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 medi
• PDB: 4ZRP, 4ZRQ, 7QBD, 7QBE, 7QBF, 7QBG
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00057	Ldl_recept_a	52 → 89	Low-density lipoprotein receptor domain class A	Repeat
  PF00057	Ldl_recept_a	130 → 167	Low-density lipoprotein receptor domain class A	Repeat

• Tissue specificity: TISSUE SPECIFICITY: Detected in the germinal center (GC) of lymphoid follicles (at protein level) (PubMed:11418631). Expressed abundantly on follicular dendritic cells (FDCs) (PubMed:10727470). {ECO:0000269|PubMed:10727470, ECO:0000269|PubMed:11418631}.
• Sequence:

  MSGGWMAQVGAWRTGALGLALLLLLGLGLGLEAAASPLSTPTSAQAAGPSSGSCPPTKFQ
  CRTSGLCVPLTWRCDRDLDCSDGSDEEECRIEPCTQKGQCPPPPGLPCPCTGVSDCSGGT
  DKKLRNCSRLACLAGELRCTLSDDCIPLTWRCDGHPDCPDSSDELGCGTNEILPEGDATT
  MGPPVTLESVTSLRNATTMGPPVTLESVPSVGNATSSSAGDQSGSPTAYGVIAAAAVLSA
  SLVTATLLLLSWLRAQERLRPLGLLVAMKESLLLSEQKTSLP

• Sequence length: 282

Pathways

KEGG:

Cobalamin transport and metabolism

Reactome:

Cobalamin (Cbl, vitamin B12) transport and metabolism
Defective CD320 causes methylmalonic aciduria

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Adrenocortical carcinoma, hereditary	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ASTROCYTOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CD320-related disorder	Conflicting classifications of pathogenicity; other; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CENTRAL NERVOUS SYSTEM CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEFICIENCY ANEMIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GLIOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant lymphoma, large B-cell, diffuse	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Methylmalonic acidemia due to transcobalamin receptor defect	Uncertain significance; Likely benign; Benign; Conflicting classifications of pathogenicity; other	ClinVar ClinGen, ClinVar, GWAS catalog	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
METHYLMALONIC ACIDURIA DUE TO TRANSCOBALAMIN RECEPTOR DEFECT	—	Disgenet, Orphanet Disgenet, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
METHYLMALONIC ACIDURIA, TRANSIENT, DUE TO TRANSCOBALAMIN RECEPTOR DEFECT	—	CTD, HPO CTD, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OBSESSIVE-COMPULSIVE DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uveal melanoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
VITAMIN B DEFICIENCY	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
VITAMIN B12 DEFICIENCY	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Relationship Type	References	Evidence Score
Drug Related Side Effects and Adverse Reactions	Associate	20858723	★☆☆☆☆ Found in Text Mining only
Encephalitis	Associate	28935853	★☆☆☆☆ Found in Text Mining only
Fever	Associate	28935853	★☆☆☆☆ Found in Text Mining only
Infertility	Associate	21857689	★☆☆☆☆ Found in Text Mining only
Infertility Male	Associate	21857689	★☆☆☆☆ Found in Text Mining only
Methylmalonic acidemia	Associate	20524213	★☆☆☆☆ Found in Text Mining only
Neoplasms	Associate	20858723	★☆☆☆☆ Found in Text Mining only
Neural Tube Defects	Associate	20577008, 25948668	★☆☆☆☆ Found in Text Mining only
Osteoporosis	Associate	32498429	★☆☆☆☆ Found in Text Mining only
Osteoporosis	Stimulate	32498429	★☆☆☆☆ Found in Text Mining only
Osteoporotic Fractures	Associate	32498429	★☆☆☆☆ Found in Text Mining only
Thrombophilia	Associate	37098010	★☆☆☆☆ Found in Text Mining only