CD320 (CD320 molecule)

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Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases Related genes Diseases linked via similar genes

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 Show/Hide all (20)

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) Show/Hide all (23)

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 Pathway	Reactome Pathway
Cobalamin transport and metabolism	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 Show/Hide Unknown Diseases (22)
Phenotype Name	Clinical Significance	Source	Reference	Evidence Score
Adrenocortical carcinoma, hereditary	Benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ASTROCYTOMA	—	GWAS catalog	36810956	★★☆☆☆ 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	36810956	★★☆☆☆ 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	39024449	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GLIOMA	—	GWAS catalog	36810956	★★☆☆☆ 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	22819238,20524213,23754956,27604308, 18779389, 20524213, 21377459, 22819238, 23430977, 27411955, 29663633, 30041674, 30124850, 31462756, 32898552, 35107211, ClinGen report	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
METHYLMALONIC ACIDURIA DUE TO TRANSCOBALAMIN RECEPTOR DEFECT	—	Disgenet, Orphanet Disgenet, Orphanet	20524213	★★☆☆☆ 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	30456828	★★☆☆☆ 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	39024449	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Vitamin B12 deficiency	—	GWAS catalog	39024449	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining Show/Hide Text Mining Associations (24)
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Anemia, Macrocytic	Anemia	BEFREE	30124850		★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	29104950		★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular Diseases	BEFREE	25948668		★☆☆☆☆ Found in Text Mining only
Cognition Disorders	Cognitive disorder	BEFREE	25173634		★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	25948668		★☆☆☆☆ Found in Text Mining only
Congenital omphalocele	Congenital omphalocele	BEFREE	22116453		★☆☆☆☆ Found in Text Mining only
Encephalitis	Encephalitis	Pubtator	28935853	Associate	★☆☆☆☆ Found in Text Mining only
Hyperhomocysteinemia	Hyperhomocysteinemia	BEFREE	22819238		★☆☆☆☆ Found in Text Mining only
Infertility	Infertility	Pubtator	21857689	Associate	★☆☆☆☆ Found in Text Mining only
Infertility Male	Male infertility	Pubtator	21857689	Associate	★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	29104950		★☆☆☆☆ Found in Text Mining only
Methylmalonic acidemia	Methylmalonic acidemia	Pubtator	20524213	Associate	★☆☆☆☆ Found in Text Mining only
METHYLMALONIC ACIDURIA, TRANSIENT, DUE TO TRANSCOBALAMIN RECEPTOR DEFECT	Methylmalonic Aciduria	CLINVAR_DG	20524213		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
METHYLMALONIC ACIDURIA, TRANSIENT, DUE TO TRANSCOBALAMIN RECEPTOR DEFECT	Methylmalonic Aciduria	GENOMICS_ENGLAND_DG	20524213		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
METHYLMALONIC ACIDURIA, TRANSIENT, DUE TO TRANSCOBALAMIN RECEPTOR DEFECT	Methylmalonic Aciduria	ORPHANET_DG	20524213		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
METHYLMALONIC ACIDURIA, TRANSIENT, DUE TO TRANSCOBALAMIN RECEPTOR DEFECT	Methylmalonic Aciduria	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neoplasms	Neoplasms	BEFREE	29104950		★☆☆☆☆ Found in Text Mining only
Neural Tube Defects	Neural tube defect	Pubtator	20577008, 25948668	Associate	★☆☆☆☆ Found in Text Mining only
Neural Tube Defects	Neural Tube Defect	BEFREE	20577008		★☆☆☆☆ Found in Text Mining only
Osteoporosis	Osteoporosis	Pubtator	32498429	Associate	★☆☆☆☆ Found in Text Mining only
Osteoporosis	Osteoporosis	Pubtator	32498429	Stimulate	★☆☆☆☆ Found in Text Mining only
Retinal Artery Occlusion	Retinal Artery Occlusion	BEFREE	22819238		★☆☆☆☆ Found in Text Mining only
Thrombophilia	Thrombophilia	Pubtator	37098010	Associate	★☆☆☆☆ Found in Text Mining only
Vitamin B 12 Deficiency	Cobalamin deficiency	BEFREE	23430977, 25657319, 28545069, 30124850		★☆☆☆☆ Found in Text Mining only

Related Genes

Sort by: Blended Diseases Pathways Evidence source

MMAA 4 shared diseasesDeficiency anemia, Methylmalonic acidemia, Vitamin b deficiency, Vitamin b12 deficiency 2 shared pathwaysCobalamin transport and metabolism, Cobalamin (Cbl, vitamin B12) transport and metabolism 9 shared evidence sourcesGWAS catalog (Deficiency anemia), CTD (Methylmalonic acidemia), Disgenet (Methylmalonic acidemia), ClinGen (Methylmalonic acidemia), ClinVar (Methylmalonic acidemia), Orphanet (Methylmalonic acidemia), HPO (Methylmalonic acidemia), GWAS catalog (Vitamin b deficiency), GWAS catalog (Vitamin b12 deficiency) Related via 4 shared diseases including Deficiency anemia, Methylmalonic acidemia — evidence mostly GWAS catalog. MMUT 4 shared diseasesDeficiency anemia, Methylmalonic acidemia, Vitamin b deficiency, Vitamin b12 deficiency 2 shared pathwaysCobalamin transport and metabolism, Cobalamin (Cbl, vitamin B12) transport and metabolism 10 shared evidence sourcesGWAS catalog (Deficiency anemia), CTD (Methylmalonic acidemia), Disgenet (Methylmalonic acidemia), ClinGen (Methylmalonic acidemia), ClinVar (Methylmalonic acidemia), GWAS catalog (Methylmalonic acidemia), Orphanet (Methylmalonic acidemia), HPO (Methylmalonic acidemia), GWAS catalog (Vitamin b deficiency), GWAS catalog (Vitamin b12 deficiency) Related via 4 shared diseases including Deficiency anemia, Methylmalonic acidemia — evidence mostly GWAS catalog. TCN1 3 shared diseasesDeficiency anemia, Vitamin b deficiency, Vitamin b12 deficiency 2 shared pathwaysCobalamin transport and metabolism, Cobalamin (Cbl, vitamin B12) transport and metabolism 3 shared evidence sourcesGWAS catalog (Deficiency anemia), GWAS catalog (Vitamin b deficiency), GWAS catalog (Vitamin b12 deficiency) Related via 3 shared diseases including Deficiency anemia, Vitamin b deficiency — evidence mostly GWAS catalog. ABCD4 2 shared diseasesMethylmalonic acidemia, Vitamin b deficiency 2 shared pathwaysCobalamin transport and metabolism, Cobalamin (Cbl, vitamin B12) transport and metabolism 7 shared evidence sourcesCTD (Methylmalonic acidemia), Disgenet (Methylmalonic acidemia), ClinGen (Methylmalonic acidemia), ClinVar (Methylmalonic acidemia), GWAS catalog (Methylmalonic acidemia), Orphanet (Methylmalonic acidemia), HPO (Methylmalonic acidemia) Related via 2 shared diseases including Methylmalonic acidemia, Vitamin b deficiency — evidence mostly CTD. TCN2 3 shared diseasesDeficiency anemia, Vitamin b deficiency, Vitamin b12 deficiency 3 shared pathwaysCobalamin transport and metabolism, Cobalamin (Cbl, vitamin B12) transport and metabolism, Defective CD320 causes methylmalonic aciduria 3 shared evidence sourcesGWAS catalog (Deficiency anemia), GWAS catalog (Vitamin b deficiency), GWAS catalog (Vitamin b12 deficiency) Related via 3 shared diseases including Deficiency anemia, Vitamin b deficiency — evidence mostly GWAS catalog.

Related Gene	Shared Diseases	Shared Disease Names	Shared Pathways	Shared Pathway Names	Shared Evidence Sources	Shared Evidence Names
MMAA	4	["Deficiency anemia","Methylmalonic acidemia","Vitamin b deficiency","Vitamin b12 deficiency"]	2	["Cobalamin transport and metabolism","Cobalamin (Cbl, vitamin B12) transport and metabolism"]	9	["GWAS catalog (Deficiency anemia)","CTD (Methylmalonic acidemia)","Disgenet (Methylmalonic acidemia)","ClinGen (Methylmalonic acidemia)","ClinVar (Methylmalonic acidemia)","Orphanet (Methylmalonic acidemia)","HPO (Methylmalonic acidemia)","GWAS catalog (Vitamin b deficiency)","GWAS catalog (Vitamin b12 deficiency)"]
MMUT	4	["Deficiency anemia","Methylmalonic acidemia","Vitamin b deficiency","Vitamin b12 deficiency"]	2	["Cobalamin transport and metabolism","Cobalamin (Cbl, vitamin B12) transport and metabolism"]	10	["GWAS catalog (Deficiency anemia)","CTD (Methylmalonic acidemia)","Disgenet (Methylmalonic acidemia)","ClinGen (Methylmalonic acidemia)","ClinVar (Methylmalonic acidemia)","GWAS catalog (Methylmalonic acidemia)","Orphanet (Methylmalonic acidemia)","HPO (Methylmalonic acidemia)","GWAS catalog (Vitamin b deficiency)","GWAS catalog (Vitamin b12 deficiency)"]
TCN1	3	["Deficiency anemia","Vitamin b deficiency","Vitamin b12 deficiency"]	2	["Cobalamin transport and metabolism","Cobalamin (Cbl, vitamin B12) transport and metabolism"]	3	["GWAS catalog (Deficiency anemia)","GWAS catalog (Vitamin b deficiency)","GWAS catalog (Vitamin b12 deficiency)"]
ABCD4	2	["Methylmalonic acidemia","Vitamin b deficiency"]	2	["Cobalamin transport and metabolism","Cobalamin (Cbl, vitamin B12) transport and metabolism"]	7	["CTD (Methylmalonic acidemia)","Disgenet (Methylmalonic acidemia)","ClinGen (Methylmalonic acidemia)","ClinVar (Methylmalonic acidemia)","GWAS catalog (Methylmalonic acidemia)","Orphanet (Methylmalonic acidemia)","HPO (Methylmalonic acidemia)"]
TCN2	3	["Deficiency anemia","Vitamin b deficiency","Vitamin b12 deficiency"]	3	["Cobalamin transport and metabolism","Cobalamin (Cbl, vitamin B12) transport and metabolism","Defective CD320 causes methylmalonic aciduria"]	3	["GWAS catalog (Deficiency anemia)","GWAS catalog (Vitamin b deficiency)","GWAS catalog (Vitamin b12 deficiency)"]

Diseases Linked via Similar Genes

Megaloblastic anemia Linked via 3 of 5 related genesMMAA, TCN1, TCN2 Transcobalamin deficiency Linked via 2 of 5 related genesTCN1, TCN2 Vitamin deficiency disorder Linked via 2 of 5 related genesTCN1, TCN2 Colorectal neoplasms Linked via 2 of 5 related genesABCD4, TCN2 Cataract Linked via 1 of 5 related genesMMAA

Disease	Linked Via (Gene Count)	Linked Via (Gene Names)
Megaloblastic anemia	3	["MMAA","TCN1","TCN2"]
Transcobalamin deficiency	2	["TCN1","TCN2"]
Vitamin deficiency disorder	2	["TCN1","TCN2"]
Colorectal neoplasms	2	["ABCD4","TCN2"]
Cataract	1	["MMAA"]