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Aliases for CD320 Gene

Aliases for CD320 Gene

  • CD320 Molecule 2 3 5
  • 8D6 Antigen 2 3 4
  • FDC-Signaling Molecule 8D6 3 4
  • Transcobalamin Receptor 3 4
  • CD320 Antigen 2 4
  • FDC-SM-8D6 3 4
  • TCBLR 3 4
  • 8D6A 3 4
  • 8D6 3

External Ids for CD320 Gene

Previous GeneCards Identifiers for CD320 Gene

  • GC19M008274
  • GC19M008275
  • GC19M008021
  • GC19M008367

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 omphalocele. Among its related pathways are Metabolism and Infectious disease. 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

Regulatory Elements for CD320 Gene

Promoters for CD320 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around CD320 on UCSC Golden Path with GeneCards custom track

Genomic Location for CD320 Gene

Chromosome:
19
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

Genes around CD320 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CD320 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CD320 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence 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

  • Ubiquitination at Lys 269 and Lys 278
  • Glycosylation at Asn 126, Asn 195, and Asn 213
  • Modification sites at PhosphoSitePlus

Other Protein References for CD320 Gene

Antibody Products

  • R&D Systems Antibodies for CD320 (CD320/TCblR/8D6A)

No data available for DME Specific Peptides for CD320 Gene

Domains & Families for CD320 Gene

Gene Families for CD320 Gene

Suggested Antigen Peptide Sequences for CD320 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9NPF0

UniProtKB/Swiss-Prot:

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

Human Phenotype Ontology for CD320 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

  • Taconic Biosciences Mouse Models for CD320

CRISPR Products

miRNA for CD320 Gene

miRTarBase miRNAs that target CD320

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Animal Models , Transcription Factor Targets 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
extracellular 5
plasma membrane 5
endoplasmic reticulum 4
endosome 4

Gene Ontology (GO) - Cellular Components for CD320 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0070062 extracellular exosome IDA 23376485
genes like me logo Genes that share ontologies with CD320: view

Pathways & Interactions 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:0006767 water-soluble vitamin metabolic process TAS --
genes like me logo Genes that share ontologies with CD320: view

No data available for SIGNOR curated interactions for CD320 Gene

Drugs & Compounds for CD320 Gene

(1) Drugs for CD320 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Cobalamin Nutra 227
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

Protein differential expression in normal tissues from HIPED for CD320 Gene

This gene is overexpressed in Urine (61.2) and Placenta (7.8).

Integrated Proteomics: protein expression in normal tissues and cell lines 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 expression patterns with CD320: view

Protein tissue co-expression partners for CD320 Gene

Primer Products

In Situ Assay Products

No data available for mRNA differential expression in normal tissues for CD320 Gene

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 36
  • 98 (a)
OneToOne
cow
(Bos Taurus)
Mammalia CD320 36
  • 54 (a)
OneToOne
CD320 35
  • 71.15 (n)
  • 56.52 (a)
dog
(Canis familiaris)
Mammalia CD320 35
  • 73.59 (n)
  • 58.44 (a)
CD320 36
  • 56 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Cd320 36
  • 60 (a)
OneToOne
Cd320 16
Cd320 35
  • 70.42 (n)
  • 59.74 (a)
rat
(Rattus norvegicus)
Mammalia Cd320 35
  • 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

(7) 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
VAR_047315 -
rs2336573 - 8,302,825(+) GTCTC(C/T)GGCAG reference, missense
rs9426 -- 8,302,274(-) CTATG(A/G)AGATC utr-variant-3-prime
rs250510 -- 8,302,149(+) TTAAT(C/T)GCCAC utr-variant-3-prime
rs250511 -- 8,302,620(-) TGTCC(A/T)TCTGT 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

Variation tolerance for CD320 Gene

Residual Variation Intolerance Score: 82.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 6.59; 78.07% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for CD320 Gene

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

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CD320 Gene

Disorders for CD320 Gene

MalaCards: The human disease database

(3) MalaCards diseases for CD320 Gene - From: OMIM, ClinVar, Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
methylmalonic aciduria due to transcobalamin receptor defect
  • methylymalonic acidemia, tcblr type
omphalocele
  • omphalocoele
vitamin metabolic disorder
- elite association - COSMIC cancer census association via MalaCards
Search CD320 in MalaCards View complete list of genes associated with diseases

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.

Relevant External Links for CD320

Genetic Association Database (GAD)
CD320
Human Genome Epidemiology (HuGE) Navigator
CD320
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
CD320
genes like me logo Genes that share disorders with CD320: view

No data available for Genatlas for CD320 Gene

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 67
  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. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3
  4. Transcobalamin II (TCN2 67A>G and TCN2 776C>G) and transcobalamin II receptor (TCblR 1104C>T) polymorphisms in Korean patients with idiopathic recurrent spontaneous abortion. (PMID: 24750446) Kim H.S. … Kim N.K. (Am. J. Reprod. Immunol. 2014) 3
  5. Proteomic analysis of podocyte exosome-enriched fraction from normal human urine. (PMID: 23376485) Prunotto M. … Moll S. (J Proteomics 2013) 3

Products for CD320 Gene

Sources for CD320 Gene

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