CD320 (CD320 molecule)

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
SNPs SNP information provided by dbSNP.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(1)
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 miRNA information provided by mirtarbase database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
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
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
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
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
606475 16692 ENSG00000167775
Protein
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
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
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
  KEGG   Reactome
  Cobalamin transport and metabolism   Cobalamin (Cbl, vitamin B12) transport and metabolism
Defective CD320 causes methylmalonic aciduria
<
Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Unknown Diseases (2)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Methylmalonic Aciduria Methylmalonic acidemia due to transcobalamin receptor defect N/A N/A ClinVar
Obsessive-Compulsive Disorder Obsessive-compulsive disorder N/A N/A GWAS
Show/Hide Text Mining Associations (12)
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
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