Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	51293
Gene name Gene Name - the full gene name approved by the HGNC.	CD320 molecule
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	CD320
Synonyms (NCBI Gene) Gene synonyms aliases	8D6, 8D6A, TCBLR, TCII-R, TCN2R, sCD320
Chromosome Chromosome number	19
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	19p13.2
Summary Summary of gene provided in NCBI Entrez Gene.	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

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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

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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

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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	IDA	18779389
GO:0005886	Component	Plasma membrane	TAS
GO:0005887	Component	Integral component of plasma membrane	IDA	10727470
GO:0007165	Process	Signal transduction	IEA
GO:0008083	Function	Growth factor activity	IEA
GO:0009235	Process	Cobalamin metabolic process	TAS
GO:0010008	Component	Endosome membrane	TAS
GO:0015420	Function	ABC-type vitamin B12 transporter activity	TAS
GO:0015889	Process	Cobalamin transport	IMP	18779389, 20524213
GO:0016020	Component	Membrane	HDA	19946888
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

MIM	HGNC	e!Ensembl
606475	16692	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

Interactions

View interactions

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

Show/Hide Causal Diseases (1)

Disease term	Disease name	dbSNP ID	References
Causal
Methylmalonic aciduria	METHYLMALONIC ACIDURIA, TRANSIENT, DUE TO TRANSCOBALAMIN RECEPTOR DEFECT	rs397509361, rs118204047, rs397509362, rs121918241, rs121918243, rs121918248, rs121918249, rs121918250, rs121918251, rs121918252, rs121918253, rs2127419920, rs121918254, rs121918255, rs121918256 View all (230 more)	20524213

Show/Hide Unknown Diseases (1)

Disease term	Disease name	Evidence	References	Source
Unknown
Obsessive-Compulsive Disorder	Obsessive-Compulsive Disorder			GWAS

Show/Hide Text Mining Associations (12)

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

CD320 (CD320 molecule)