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

CD320 Gene

protein-coding   GIFtS: 58
GCID: GC19M008367

CD320 Molecule

(Previous name: CD320 antigen)
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
CD320 Molecule1 2     FDC-SM-8D62 3
8D6 Antigen1 2 3     FDC-Signaling Molecule 8D62 3
CD320 Antigen1 2 3     8D62 5
8D6A2 3 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 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 acidemia, and among its related super-pathways are Metabolism of water-soluble vitamins and cofactors and Metabolic pathways. GO annotations related to this gene include cobalamin binding and molecular_function.

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 Gene


(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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000019.9  NT_077812.2  NC_018930.2  
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 UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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 Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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

Explore proteomics data for CD320 at MOPED 

Post-translational modifications:

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

  • CD320 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    CD320 Protein Expression
    REFSEQ proteins (2 alternative transcripts): 
    NP_001159367.1  NP_057663.1  

    ENSEMBL proteins: 
     ENSP00000471773   ENSP00000437697   ENSP00000301458   ENSP00000471551  
    Reactome Protein details: Q9NPF0
    Human Recombinant Protein Products for CD320: 
    Browse Purified and Recombinant Proteins at EMD Millipore
    R&D Systems Recombinant & Natural Proteins for CD320 (CD320/TCblR/8D6A)
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    Browse OriGene full length recombinant human proteins expressed in human HEK293 cells
    Browse OriGene Protein Over-expression Lysates
    OriGene Custom MassSpec 
    OriGene Custom Protein Services for CD320
    GenScript Custom Purified and Recombinant Proteins Services for CD320
    Novus Biologicals CD320 Proteins
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for CD320 

    Gene Ontology (GO): 4 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005783endoplasmic reticulum IDA--
    GO:0005886plasma membrane TAS--
    GO:0010008endosome membrane TAS--
    GO:0016021integral to membrane IEA--

    CD320 for ontologies           About GeneDecksing



    CD320 Antibody Products: 
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    LSBio Antibodies in human, mouse, rat for CD320 

    Assay Products for CD320: 
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    Cloud-Clone Corp. ELISAs for CD320 
    Cloud-Clone Corp. CLIAs for CD320


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    HGNC Gene Families: 
    CD: CD molecules

    2 InterPro protein domains:
     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 domains:
    IPB002172 Low density lipoprotein-receptor
    IPB008197 4-disulphide core signature


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


    CD320 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    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, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: 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 Ontology (GO): 4 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003674molecular_function ND--
    GO:0005515protein binding ----
    GO:0008083growth factor activity IEA--
    GO:0031419cobalamin binding IDA18779389
         
    CD320 for ontologies           About GeneDecksing


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

    CD320 for phenotypes           About GeneDecksing

    Animal Models:
       inGenious Targeting Laboratory - Custom generated mouse model solutions for CD320 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for CD320

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for CD320 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for CD320 

    miRNA
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    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat CD320
    4 QIAGEN miScript miRNA Assays for microRNAs that regulate CD320:
    hsa-miR-214 hsa-miR-3194-5p hsa-miR-122 hsa-miR-761
    SwitchGear 3'UTR luciferase reporter plasmidCD320 3' UTR sequence
    Inhib. RNA
    Products:
        
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    Gene Editing
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    Sirion Biotech Customized adenovirus for overexpression of CD320

    Clone
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    GenScript: all cDNA clones in your preferred vector (see all 2): CD320 (NM_016579)
    Sino Biological Human cDNA Clone for CD320
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                         Customized lentivirus expression plasmids for stable overexpression of CD320 

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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CD320


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, 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 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for CD320 About                                                                                                See pathways by source

    SuperPathContained pathways About
    1Metabolism of vitamins and cofactors
    Metabolism of water-soluble vitamins and cofactors1.00
    Metabolism of vitamins and cofactors1.00
    2Metabolism
    Metabolism0.40
    3Cobalamin (Cbl, vitamin B12) transport and metabolism
    Cobalamin (Cbl, vitamin B12) transport and metabolism

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways



    4        Reactome Pathways for CD320
        Metabolism
    Cobalamin (Cbl, vitamin B12) transport and metabolism
    Metabolism of vitamins and cofactors
    Metabolism of water-soluble vitamins and cofactors



    CD320 for pathways           About GeneDecksing

    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): 5 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001558regulation of cell growth NAS10727470
    GO:0006766vitamin metabolic process TAS--
    GO:0006767water-soluble vitamin metabolic process TAS--
    GO:0009235cobalamin metabolic process TAS--
    GO:0044281small molecule metabolic process TAS--

    CD320 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, 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 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, 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, Sirion Biotech, 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
    6 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000596002 ENST00000537716(uc002mjl.2) ENST00000301458(uc002mjj.2 uc002mjk.2)
    ENST00000599573 ENST00000598299 ENST00000596246
    miRNA
    Products:
         
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat CD320
    4 QIAGEN miScript miRNA Assays for microRNAs that regulate CD320:
    hsa-miR-214 hsa-miR-3194-5p hsa-miR-122 hsa-miR-761
    SwitchGear 3'UTR luciferase reporter plasmidCD320 3' UTR sequence
    Inhib. RNA
    Products:
         
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene RNAi products in human, mouse, rat for CD320
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat CD320
    Clone
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    OriGene clones in human, mouse for CD320 (see all 11)
    OriGene ORF clones in mouse, rat for CD320
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 2): CD320 (NM_016579)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for CD320
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat CD320
    Sirion Biotech Customized lentivirus for stable overexpression of CD320 
                         Customized lentivirus expression plasmids for stable overexpression of CD320 
    Primer
    Products:
        
    OriGene qPCR primer pairs and template standards for CD320
    OriGene qSTAR qPCR primer pairs in human, mouse for CD320
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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat CD320
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat CD320

    Additional mRNA 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):

    AF050637 BU194469 CF528604 AA622394 AI675995 CR621881 AJ712866 BQ012380 
    BP343142 CR624802 BM719394 BU165223 BU181748 BM662434 AA873215 CB121794 
    BC003102 H62365 BU732077 CB108260 BQ957623 AA285003 CR621803 CR607353 

    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)      CD320 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    CD320 Expression
    About this image


    CD320 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/4 selected tissues (see all 4) fully expand
     
     Brain (Nervous System)    fully expand to see all 2 entries
             Postnatal Endothelial Cells Blood Brain Barrier
             Lateral Ventricle
     
     Lymph (Hematopoietic System)    fully expand to see all 2 entries
             lymph node ; non-germinal center cells   
     
     Blood Brain Barrier (Nervous System)
             Postnatal Endothelial Cells Blood Brain Barrier
     
     Endothelium (Cardiovascular System)
             Postnatal Endothelial Cells Blood Brain Barrier

    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)

        SABiosciences Custom PCR Arrays for CD320
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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 animals.

    Orthologs for CD320 gene from 3/8 species (see all 8)    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 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG67396
    --
    6(a)
    1 → many
    2L(7608390-7616528)
    worm
    (Caenorhabditis elegans)
    Secernentea lrx-16
    F09B12.56
    (see all 3)
    Protein F09B12.5
    (see all 3)
    11(a)
    11(a)
    (see all 3)
    many ↔ many
    many ↔ many
    (see all 3)
    V(12252647-12255394)
    X(15084749-15088135)


    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
    8 SIMAP similar genes for CD320 using alignment to 3 protein entries:     CD320_HUMAN (see all proteins):
    LRP12    LRP3    LRP4    LRP6    SORL1    SPINT1
    LDLRAD3    LRP8

    CD320 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, 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

    10/300 SNPs in CD320 are shown (see all 300)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 19 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1174230161,2
    C--8026266(+) ACAAAA/CAAAAA 2 -- int10--------
    rs1736651,2
    C,F,H--8303173(-) TGGGAC/TATGGA 2 -- ds50019Minor allele frequency- T:0.10NS EA NA CSA WA 778
    rs1405566401,2
    --8303187(+) TCTATA/GGGCTG 2 -- ds50010--------
    rs1157767291,2
    C,F--8303201(+) TCTCAT/CGGAGG 2 -- ds50011Minor allele frequency- C:0.06WA 118
    rs755944281,2
    C,F--8303241(+) CAGGCC/AAAGGG 2 -- ds50013Minor allele frequency- A:0.16CSA WA NA 240
    rs1911278411,2
    --8303268(+) GCAGGC/TGGAGG 2 -- ds50010--------
    rs2505101,2
    C,F,O,A,H--8303292(+) TTAATC/TGCCAC 2 -- ut3128Minor allele frequency- T:0.04MN NA NS EA WA CSA 2679
    rs1382709681,2
    --8303411(+) TCCCCA/GGATCT 2 -- ut310--------
    rs94261,2
    C,F,H--8303417(-) CTATGG/AAGATC 2 -- ut31 ese320Minor allele frequency- A:0.13MN NS EA NA WA EU 2733
    rs1496516671,2
    C--8303443(+) CCTCAA/GTCTCC 2 -- ut310--------

    HapMap Linkage Disequilibrium report for CD320 (8367011 - 8373240 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 6 variations for CD320:    About this table     
    Variant IDTypeSubtypePubMed ID
    esv991034CNV Deletion20482838
    nsv169CNV Loss15895083
    nsv469677CNV Loss16826518
    nsv524436CNV Loss19592680
    dgv3718n71CNV Loss21882294
    nsv2401CNV Loss18451855


    Human Gene Mutation Database (HGMD): CD320
    SABiosciences Cancer Mutation PCR Assays
    1 SABiosciences qBiomarker Copy Number PCR Array containing CD320:
    Birth Defects
    SeqTarget long-range PCR primers 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, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 606475   
    OMIM disorders: 613646  
    UniProtKB/Swiss-Prot: CD320_HUMAN, Q9NPF0
  • 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. Note=The disease is caused by mutations affecting the gene represented in this entry

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

    2 diseases from the University of Copenhagen DISEASES database for CD320:
    Megaloblastic anemia     Methylmalonic acidemia

    CD320 for disorders           About GeneDecksing

    Genetic Association Database (GAD): CD320
    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 29):
    (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. Transcobalamin II receptor polymorphisms are associat ed with increased risk for neural tube defects. (PubMed id 20577008)1, 4 Pangilinan F....Brody L.C. (2010)
    3. 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)
    4. 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)
    5. 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)
    6. 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)
    7. 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)
    8. 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)
    9. Expression of CD320 in human B cells in addition to follicular dendritic cells. (PubMed id 19123977)1, 9 Cho W....Choe J. (2008)
    10. SGTA recognizes a noncanonical ubiquitin-like domain i n the Bag6-Ubl4A-Trc35 complex to promote endoplasmic reticulum-associated degra dation. (PubMed id 23246001)1 Xu Y....Ye Y. (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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