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Aliases for CD320 Gene

Aliases for CD320 Gene

  • CD320 Molecule 2 3
  • CD320 Antigen 2 3 4
  • 8D6 Antigen 2 3 4
  • TCBLR 3 4 6
  • 8D6A 3 4 6
  • FDC-Signaling Molecule 8D6 3 4
  • Transcobalamin Receptor 3 4
  • FDC-SM-8D6 3 4
  • 8D6 3 6

External Ids for CD320 Gene

Summaries for CD320 Gene

Entrez Gene Summary for CD320 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 gene are associated with methylmalonic aciduria. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Jan 2011]

GeneCards Summary for CD320 Gene

CD320 (CD320 Molecule) is a Protein Coding gene. Diseases associated with CD320 include methylmalonic aciduria due to transcobalamin receptor defect and methylmalonic aciduria and homocystinuria type cble. Among its related pathways are Disease and Metabolism. GO annotations related to this gene include growth factor activity and cobalamin binding.

UniProtKB/Swiss-Prot for CD320 Gene

  • 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). CD320 augments the proliferation of PC precursors generated by IL-10. Receptor for the cellular uptake of transcobalamin bound cobalamin.

Gene Wiki entry for CD320 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CD320 Gene

Genomics for CD320 Gene

Genomic Location for CD320 Gene

Start:
8,302,127 bp from pter
End:
8,308,356 bp from pter
Size:
6,230 bases
Orientation:
Minus strand

Genomic View for CD320 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for CD320 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CD320 Gene

Regulatory Elements for CD320 Gene

Proteins for CD320 Gene

  • Protein details for CD320 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9NPF0-CD320_HUMAN
    Recommended name:
    CD320 antigen
    Protein Accession:
    Q9NPF0
    Secondary Accessions:
    • B2RDS5
    • D6W668
    • F5H6D3
    • Q53HF7

    Protein attributes for CD320 Gene

    Size:
    282 amino acids
    Molecular mass:
    28991 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for CD320 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for CD320 Gene

Proteomics data for CD320 Gene at MOPED

Post-translational modifications for CD320 Gene

  • Modification sites at PhosphoSitePlus
  • Ubiquitination at Lys269 and Lys278
  • Glycosylation at Asn126, Asn195, and Asn213

Other Protein References for CD320 Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

No data available for DME Specific Peptides for CD320 Gene

Domains for CD320 Gene

Gene Families for CD320 Gene

HGNC:
  • CD :CD molecules

UniProtKB/Swiss-Prot:

CD320_HUMAN
Domain:
  • Contains 2 LDL-receptor class A domains.:
    • Q9NPF0
genes like me logo Genes that share domains with CD320: view

Function for CD320 Gene

Molecular function for CD320 Gene

UniProtKB/Swiss-Prot Function: 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). CD320 augments the proliferation of PC precursors generated by IL-10. Receptor for the cellular uptake of transcobalamin bound cobalamin.

Gene Ontology (GO) - Molecular Function for CD320 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding --
GO:0008083 growth factor activity IEA --
GO:0031419 cobalamin binding IDA 18779389
genes like me logo Genes that share ontologies with CD320: view
genes like me logo Genes that share phenotypes with CD320: view

miRNA for CD320 Gene

miRTarBase miRNAs that target CD320

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targeting and HOMER Transcription for CD320 Gene

Localization for CD320 Gene

Subcellular locations from UniProtKB/Swiss-Prot for CD320 Gene

Membrane; Single-pass type I membrane protein.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for CD320 Gene COMPARTMENTS Subcellular localization image for CD320 gene
Compartment Confidence
plasma membrane 5
endoplasmic reticulum 4

Gene Ontology (GO) - Cellular Components for CD320 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005783 endoplasmic reticulum IDA --
GO:0005886 plasma membrane TAS --
GO:0010008 endosome membrane TAS --
GO:0016020 membrane IDA 19946888
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with CD320: view

Pathways for CD320 Gene

genes like me logo Genes that share pathways with CD320: view

Gene Ontology (GO) - Biological Process for CD320 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001558 regulation of cell growth NAS 10727470
GO:0006766 vitamin metabolic process TAS --
GO:0006767 water-soluble vitamin metabolic process TAS --
GO:0009235 cobalamin metabolic process TAS --
GO:0030656 regulation of vitamin metabolic process IEA --
genes like me logo Genes that share ontologies with CD320: view

Compounds for CD320 Gene

(1) HMDB Compounds for CD320 Gene

Compound Synonyms Cas Number PubMed IDs
Cobalamin
  • 5,6-dimethyl-1-a-D-ribofuranosylbenzimidazole
13408-78-1
genes like me logo Genes that share compounds with CD320: view

Transcripts for CD320 Gene

Unigene Clusters for CD320 Gene

CD320 molecule:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for CD320 Gene

No ASD Table

Relevant External Links for CD320 Gene

GeneLoc Exon Structure for
CD320
ECgene alternative splicing isoforms for
CD320

Expression for CD320 Gene

mRNA expression in normal human tissues for CD320 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for CD320 Gene

SOURCE GeneReport for Unigene cluster for CD320 Gene Hs.558499

mRNA Expression by UniProt/SwissProt for CD320 Gene

Q9NPF0-CD320_HUMAN
Tissue specificity: Expressed abundantly on follicular dendritic cells (FDCs).
genes like me logo Genes that share expressions with CD320: view

Orthologs for CD320 Gene

This gene was present in the common ancestor of mammals.

Orthologs for CD320 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia CD320 37
  • 98 (a)
OneToOne
cow
(Bos Taurus)
Mammalia CD320 36
  • 71.15 (n)
  • 56.52 (a)
CD320 37
  • 54 (a)
OneToOne
dog
(Canis familiaris)
Mammalia CD320 36
  • 73.59 (n)
  • 58.44 (a)
CD320 37
  • 56 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Cd320 36
  • 70.42 (n)
  • 59.74 (a)
Cd320 16
Cd320 37
  • 60 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Cd320 36
  • 71.47 (n)
  • 64.59 (a)
Species with no ortholog for CD320:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • oppossum (Monodelphis domestica)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)
  • zebrafish (Danio rerio)

Evolution for CD320 Gene

ENSEMBL:
Gene Tree for CD320 (if available)
TreeFam:
Gene Tree for CD320 (if available)

Paralogs for CD320 Gene

Selected SIMAP similar genes for CD320 Gene using alignment to 3 proteins:

genes like me logo Genes that share paralogs with CD320: view

No data available for Paralogs for CD320 Gene

Variants for CD320 Gene

Sequence variations from dbSNP and Humsavar for CD320 Gene

SNP ID Clin Chr 19 pos Sequence Context AA Info Type MAF
rs9426 -- 8,302,274(-) CTATG(A/G)AGATC utr-variant-3-prime
rs173665 -- 8,302,030(-) TGGGA(C/T)ATGGA downstream-variant-500B
rs250511 Benign 8,302,620(-) TGTCC(A/T)TCTGT intron-variant
rs890856 -- 8,304,381(-) TGGGC(A/G)GCAAA intron-variant
rs2002602 -- 8,304,620(+) TTACA(C/T)GTGTG intron-variant

Structural Variations from Database of Genomic Variants (DGV) for CD320 Gene

Variant ID Type Subtype PubMed ID
nsv469677 CNV Loss 16826518
dgv3718n71 CNV Loss 21882294
nsv2401 CNV Loss 18451855
nsv169 CNV Loss 15895083
esv991034 CNV Deletion 20482838
nsv524436 CNV Loss 19592680

Relevant External Links for CD320 Gene

HapMap Linkage Disequilibrium report
CD320
Human Gene Mutation Database (HGMD)
CD320

Disorders for CD320 Gene

(1) OMIM Diseases for CD320 Gene (606475)

UniProtKB/Swiss-Prot

CD320_HUMAN
  • Methylmalonic aciduria type TCblR (MMATC) [MIM:613646]: A metabolic disorder characterized by increased blood C3-acylcarnitine levels, elevated methylmalonate and homocysteine, and low uptake of transcobalamin-bound cobalamin, but normal conversion to adenosylcobalamin and methylcobalamin. Plasma vitamin B12 and total homocysteine are normal. {ECO:0000269 PubMed:20524213}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(2) University of Copenhagen DISEASES for CD320 Gene

Relevant External Links for CD320

Genetic Association Database (GAD)
CD320
Human Genome Epidemiology (HuGE) Navigator
CD320
genes like me logo Genes that share disorders with CD320: view

Publications for CD320 Gene

  1. Identification of a human follicular dendritic cell molecule that stimulates germinal center B cell growth. (PMID: 10727470) Li L. … Choi Y.S. (J. Exp. Med. 2000) 2 3 4 23
  2. Expression of CD320 in human B cells in addition to follicular dendritic cells. (PMID: 19123977) Cho W. … Choe J. (BMB Rep 2008) 3 23
  3. Towards a catalog of human genes and proteins: sequencing and analysis of 500 novel complete protein coding human cDNAs. (PMID: 11230166) Wiemann S. … Poustka A. (Genome Res. 2001) 3 4
  4. The distinct roles of T cell-derived cytokines and a novel follicular dendritic cell-signaling molecule 8D6 in germinal center-B cell differentiation. (PMID: 11418631) Zhang X. … Choi Y.S. (J. Immunol. 2001) 3 4
  5. The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment. (PMID: 12975309) Clark H.F. … Gray A.M. (Genome Res. 2003) 3 4

Products for CD320 Gene

Sources for CD320 Gene

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