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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

CD320 Gene

protein-coding   GIFtS: 51
GCID: GC19M008367

CD320 molecule

(Previous name: CD320 antigen )
 Explore 8 diseases affiliated with
CD320 via our new
 Human Malady Compendium 
Biological research products
for CD320
    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section

Aliases
CD320 Molecule1 2     8D6 Antigen2 3
8D6A1 2 3 5     FDC-SM-8D62 3
CD320 Antigen1 2 3     FDC-Signaling Molecule 8D62 3
8D61 2 5     TCBLR2 5
Transcobalamin Receptor2 3     TCblR3

External Ids:    HGNC: 166921   Entrez Gene: 512932   Ensembl: ENSG000001677757   OMIM: 6064755   UniProtKB: Q9NPF03   

Export aliases for CD320 gene to outside databases

Previous GC identifers: GC19M008274 GC19M008275 GC19M008021


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for CD320:
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)

UniProtKB/Swiss-Prot: CD320_HUMAN, Q9NPF0
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 Wiki entry for CD320


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000019.9  NC_018930.1  NT_077812.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the CD320 gene promoter:
         Bach1   AML1a   Bach2   CUTL1   GATA-2   C/EBPalpha   RORalpha1   CHOP-10   HEN1   ATF6   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidCD320 promoter sequence
   Search SABiosciences Chromatin IP Primers for CD320

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat CD320


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 19p13.3-p13.2   Ensembl cytogenetic band:  19p13.2   HGNC cytogenetic band: 19p13.3-p13.2

CD320 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
CD320 gene location

GeneLoc information about chromosome 19         GeneLoc Exon Structure

GeneLoc location for GC19M008367:  view genomic region     (about GC identifiers)

Start:
8,367,011 bp from pter      End:
8,373,240 bp from pter
Size:
6,230 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: CD320_HUMAN, Q9NPF0 (See protein sequence)
Recommended Name: CD320 antigen precursor  
Size: 282 amino acids; 28991 Da
Subcellular location: Membrane; Single-pass type I membrane protein (Potential)
Secondary accessions: B2RDS5 D6W668 F5H6D3 Q53HF7
Alternative splicing: 2 isoforms:  Q9NPF0-1   Q9NPF0-2   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for CD320: NX_Q9NPF0

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q9NPF0

  • CD320 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins (2 alternative transcripts): 
    NP_001159367.1  NP_057663.1  

    ENSEMBL proteins: 
     ENSP00000301458   ENSP00000437697  

    Human Recombinant Protein Products: 
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    Uscn Proteins for CD320

    Gene Ontology (GO): 3 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005783endoplasmic reticulum IDA--
    GO:0005886plasma membrane IDA18779389
    GO:0016021integral to membrane IEA--


    CD320 for ontologies           About GeneDecksing



    CD320 Antibody Products: 
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    Uscn ELISAs and CLIAs for CD320


    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    CD320 for domains           About GeneDecksing

    2 InterPro domains/families:
     IPR023415 LDLR_class-A_CS
     IPR002172 LDrepeatLR_classA_rpt

    Graphical View of Domain Structure for InterPro Entry Q9NPF0

    ProtoNet protein and cluster: Q9NPF0

    2 Blocks protein families:
    IPB002172 Low density lipoprotein-receptor
    IPB008197 4-disulphide core signature


    UniProtKB/Swiss-Prot: CD320_HUMAN, Q9NPF0
    Similarity: Contains 2 LDL-receptor class A domains


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section

    Function Summary:

         UniProtKB/Swiss-Prot: CD320_HUMAN, Q9NPF0
    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

    miRNA
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    hsa-miR-214 hsa-miR-3194-5p hsa-miR-122 hsa-miR-761
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    Inhib. RNA
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    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for CD320 (see all 7)
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CD320

    Gene Ontology (GO): 3 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003674molecular_function ND--
    GO:0008083growth factor activity IEA--
    GO:0031419cobalamin binding IDA18779389


    CD320 for ontologies           About GeneDecksing


    Animal Models:
         2 MGI mutant phenotypes (inferred from 1 allele(MGI details for Cd320):
     cardiovascular system  vision/eye 

    CD320 for phenotypes           About GeneDecksing


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
    About This Section



    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for CD320

    STRING Interaction Network Preview (showing 3 interactants - click image to see more details)

    3 Interacting proteins for CD320 (Q9NPF03 ENSP000003014584) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    RBL1P287493, ENSP000003627684I2D: score=1 STRING: ENSP00000362768
    UBCENSP000003448184STRING: ENSP00000344818
    PRDX2ENSP000003015224STRING: ENSP00000301522
    About this table

    Gene Ontology (GO): 1 biological process term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001558regulation of cell growth NAS10727470


    CD320 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for CD320

    1 HMDB Compound for CD320    About this table
    CompoundSynonyms CAS #PubMed Ids
    Cobalamin5,6-dimethyl-1-a-D-ribofuranosylbenzimidazole (see all 15)13408-78-1--
    Search CenterWatch for drugs/clinical trials and news about CD320 

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for CD320 gene (2 alternative transcripts): 
    NM_001165895.1  NM_016579.3  

    Unigene Cluster for CD320:

    CD320 molecule
    Hs.558499  [show with all ESTs]
    Unigene Representative Sequence: AK094383
    2 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000301458(uc002mjj.2 uc002mjk.2) ENST00000537716(uc002mjl.2)


    miRNA
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    hsa-miR-214 hsa-miR-3194-5p hsa-miR-122 hsa-miR-761
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    Inhib. RNA
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    Additional cDNA sequence: 

    AF161254.1 AK058014.1 AK094383.1 AK222623.1 AK315656.1 AL136652.1 AL365453.1 AL365455.1 
    AY358420.1 BC000668.2 BC007083.1 BC036814.1 CR457174.1 

    11 DOTS entries:

    DT.100843907  DT.214374  DT.101982210  DT.95262337  DT.97817685  DT.100697360  DT.40132253  DT.121497974 
    DT.100037299  DT.121498010  DT.121497978 

    24/537 AceView cDNA sequences (see all 537):

    BE382788 AI650757 BQ957623 CB121794 H62365 AA285003 BC003102 BU732077 
    BM662434 AA873215 AA296945 BM453235 BG254913 F36270 CR603995 CR621803 
    CR615825 AF050637 BQ012874 AK058014 BU194469 CR603782 CB106682 BM750449 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    CD320 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: --

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)

    About this image

    CD320 expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    Stem Cell Differentiation: 1 LifeMap Cell 
    NameCategory
    PureStem™ endothelial Progenitor 30-SM2-3 (Embryonic Progenitor Cell)Blood, Endothelium
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization

    See CD320 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for CD320

    SOURCE GeneReport for Unigene cluster: Hs.558499

    UniProtKB/Swiss-Prot: CD320_HUMAN, Q9NPF0
    Tissue specificity: Expressed abundantly on follicular dendritic cells (FDCs)

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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CD320

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of human and mouse.

    Orthologs for CD320 gene from 1/5 species (see all 5)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Cd3201 , 5 CD320 antigen1, 5 70.91(n)1
    60.62(a)1
      17 (17.98 cM)5
    542191  NM_019421.31  NP_062294.31 
     338430915 


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for CD320 gene
    LRP122  LRP32  LDLRAD32  LRP102  
    1 SIMAP similar gene for CD320 using alignment to 3 protein entries:     CD320_HUMAN (see all proteins):
    VLDLR

    CD320 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/240 NCBI SNPs in CD320 are shown (see all 240    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 19 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs755944281,2
    --8021011(+) CAGGCC/AAAGGG 2 -- ds50013Minor allele frequency- A:0.16CSA WA NA 240
    rs94261,2
    C,F,H,--8021187(-) CTATGG/AAGATC 2 -- ut31 ese320Minor allele frequency- A:0.13MN NS EA NA WA EU 2733
    rs22327881,2
    C,F,H,--8021247(-) AACCTC/TGAACC 2 -- ut31 ese35Minor allele frequency- T:0.04NS EA WA 536
    rs66031621,2
    C,A--8022050(+) tttttG/Tgagag 2 -- int1 trp30--------
    rs66031631,2
    C,A,--8022051(+) ttttgA/Gagagg 2 -- int1 trp30--------
    rs1115588021,2
    --8022190(+) ACCACG/ACCTAG 2 -- int11Minor allele frequency- A:0.50CSA 2
    rs1134677751,2
    --8022462(+) TAGCTC/TGGATT 2 -- int11Minor allele frequency- T:0.50CSA 2
    rs22327851,2
    C,F,A,H,--8022653(-) CCTGTG/AGGGGA 2 -- int19Minor allele frequency- A:0.16NS EA NA WA 780
    rs1119470701,2
    C--8023005(+) AATCCC/G/TTGGGG 2 -- spa11CSA 1
    rs32149091,2
    C,--8023111(-) TTTTTT/-GGGCT 2 -- int11Minor allele frequency- -:0.50CSA 2

    HapMap Linkage Disequilibrium report for CD320 (8367011 - 8373240 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 3 variations for CD320
         3 CNVs: 0507 2238 35689
    Human Gene Mutation Database (HGMD): CD320

    SABiosciences Cancer Mutation PCR Assays
    1 SABiosciences qBiomarker Copy Number PCR Array containing CD320:
    Birth Defects
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing CD320
    DNA2.0 Custom Variant and Variant Library Synthesis for CD320

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

    CD320 for disorders           About GeneDecksing

    OMIM gene information: 606475   
    OMIM disorders: 613646  
    UniProtKB/Swiss-Prot: CD320_HUMAN, Q9NPF0
  • Defects in CD320 are the cause of methylmalonic aciduria type TCblR (MMATC) [MIM:613646]; also called
  • methylmalonic aciduria due to transcobalamin receptor defect. MMATC is 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

    8 diseases for CD320:    About MalaCards
    methylmalonic aciduria due to transcobalamin receptor defect    neural tube defect    megaloblastic anemia    intrahepatic cholangiocarcinoma
    metabolic disorders    cholangiocarcinoma    anemia    homocysteine

    2 diseases from the University of Copenhagen DISEASES database for CD320:
    Megaloblastic anemia     Methylmalonic acidemia
    Human Genome Epidemiology (HuGE) Navigator: CD320 (1 document)

    Export disorders for CD320 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for CD320 gene, integrated from 9 sources (see all 24):
    (articles sorted by number of sources associating them with CD320)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Identification of a human follicular dendritic cell molecule that stimulates germinal center B cell growth. (PubMed id 10727470)1, 2, 3, 9 Li L....Choi Y.S. (2000)
    2. Positive newborn screen for methylmalonic aciduria id entifies the first mutation in TCblR/CD320, the gene for cellular uptake of tra nscobalamin-bound vitamin B(12). (PubMed id 20524213)1, 2 Quadros E.V....Rosenblatt D.S. (2010)
    3. The protein and the gene encoding the receptor for the cellular uptake of transcobalamin-bound cobalamin. (PubMed id 18779389)1, 2 Quadros E.V.... Sequeira J.M. (2009)
    4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
    5. The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment. (PubMed id 12975309)1, 2 Clark H.F.... Gray A.M. (2003)
    6. The distinct roles of T cell-derived cytokines and a novel follicular dendritic cell-signaling molecule 8D6 in germinal center-B cell differentiation. (PubMed id 11418631)1, 2 Zhang X.... Choi Y.S. (2001)
    7. Towards a catalog of human genes and proteins: sequencing and analysis of 500 novel complete protein coding human cDNAs. (PubMed id 11230166)1, 2 Wiemann S.... Poustka A. (2001)
    8. Expression of CD320 in human B cells in addition to follicular dendritic cells. (PubMed id 19123977)1, 9 Cho W....Choe J. (2008)
    9. Folate and vitamin B12-related genes and risk for omph alocele. (PubMed id 22116453)1 Mills J.L....Druschel C.M. (2012)
    10. Methods for quantification of in vivo changes in prote in ubiquitination following proteasome and deubiquitinase inhibition. (PubMed id 22505724)1 Udeshi N.D....Carr S.A. (2012)

    (in PubMed, OMIM, and NCBI Bookshelf)
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 51293 HGNC: 16692 AceView: NDUFA7and8D6AandFLJ46061 Ensembl:ENSG00000167775 euGenes: HUgn51293
    ECgene: CD320 H-InvDB: CD320

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for CD320 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for CD320 gene:
    Search GeneIP for patents involving CD320

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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