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CD320 Gene

protein-coding   GIFtS: 59
GCID: GC19M008367

CD320 Molecule

(Previous name: CD320 antigen)
  See CD320-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)
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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, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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. GO annotations related to this gene include growth factor activity and cobalamin binding.

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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000019.9  NC_018930.2  NT_011295.12  
Regulatory elements:
   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 Chromatin IP Primers for CD320

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing 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, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: CD320_HUMAN, Q9NPF0 (See protein sequence)
Recommended Name: CD320 antigen precursor  
Size: 282 amino acids; 28991 Da
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: 

  • Ubiquitination2 at Lys269, Lys278
  • Glycosylation2 at Asn126, Asn195, Asn213
  • Modification sites at PhosphoSitePlus

  • See CD320 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

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

    ENSEMBL proteins: 
     ENSP00000471773   ENSP00000437697   ENSP00000301458   ENSP00000471551  
    Reactome Protein details: Q9NPF0

    CD320 Human Recombinant Protein Products:

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    Browse OriGene Protein Over-expression Lysates
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    Novus Biologicals CD320 Proteins
    Sino Biological Recombinant Protein for CD320
    Sino Biological Cell Lysate for CD320
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for CD320

     
    Search eBioscience for Proteins for CD320 

    CD320 Antibody Products:

    Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
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    Novus Biologicals CD320 Antibodies
    Abcam antibodies for CD320
    Cloud-Clone Corp. Antibodies for CD320
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    LSBio Antibodies in human, mouse, rat for CD320

    CD320 Assay Products:

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    Search eBioscience for ELISAs for CD320 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    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


    Find genes that share domains with CD320           About GenesLikeMe


    (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,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    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): 3 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding ----
    GO:0008083growth factor activity IEA--
    GO:0031419cobalamin binding IDA18779389
         
    Find genes that share ontologies with CD320           About GenesLikeMe


    Phenotypes:
         6 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Cd320):
     cardiovascular system  hematopoietic system  homeostasis/metabolism  immune system  reproductive system 
     vision/eye 

    Find genes that share phenotypes with CD320           About GenesLikeMe

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for CD320
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models 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
    Products:
        
    miRTarBase miRNAs that target CD320:
    hsa-mir-125b-5p (MIRT045905), hsa-mir-18a-3p (MIRT040769)

    Block miRNA regulation of human, mouse, rat CD320 using miScript Target Protectors
    4 qRT-PCR 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
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    Predesigned siRNA for gene silencing in human, mouse, rat CD320

    Gene Editing
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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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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat CD320

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


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    CD320_HUMAN, Q9NPF0: Membrane; Single-pass type I membrane protein (Potential)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    plasma membrane5
    endoplasmic reticulum4

    Gene Ontology (GO): 4 cellular component terms:    About this table

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

    Find genes that share ontologies with CD320           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to 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 QIAGEN, 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 Apr 2014 via Entrez Gene).
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    SuperPaths for CD320 About    
    See pathways by source

    SuperPathSelected contained pathways About (see all per SuperPath)
    1Defective BTD causes biotidinase deficiency
    Defective BTD causes biotidinase deficiency1.00
    Metabolism of vitamins and cofactors1.00
    Defective AMN causes hereditary megaloblastic anemia 11.00
    Defective MMACHC causes methylmalonic aciduria and homocystinuria type cblC1.00
    Defective MMAA causes methylmalonic aciduria type cblA1.00
    Defective MUT causes methylmalonic aciduria mut type1.00
    Defective CD320 causes methylmalonic aciduria1.00
    Defects in cobalamin (B12) metabolism1.00
    2Metabolism
    Metabolism0.38
    3Disease
    Disease


    Find genes that share SuperPaths with CD320           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways



    2 Reactome Pathways for CD320
        Defective CD320 causes methylmalonic aciduria
    Cobalamin (Cbl, vitamin B12) transport and metabolism


        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for CD320
    Interactions:

        Search GeneGlobe Interaction Network 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:    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--

    Find genes that share ontologies with CD320           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    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--



    (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,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    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
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    4 qRT-PCR 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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    Predesigned siRNA for gene silencing in human, mouse, rat CD320
    Clone
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    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
    Primer
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    OriGene qPCR primer pairs and template standards for CD320
    OriGene qSTAR qPCR primer pairs in human, mouse for CD320
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat CD320
      QuantiTect SYBR Green Assays in human, mouse, rat CD320
      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 

    Selected AceView cDNA sequences (see all 537):

    BM711617 F36270 CB108389 AI376402 AI435535 BM852401 AK058014 BC035849 
    CR603995 BF941035 BC066775 BE259764 AA296945 AI936727 CB108536 AI650757 
    BE264364 AI201394 BM788886 AF070591 CR615825 BQ439279 BG058740 BM708309 

    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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    CD320 expression in normal human tissues (normalized intensities)
    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
     selected tissues (see all 2) fully expand
     
     Brain (Nervous System)    fully expand to see all 2 entries
             Mature Endothelial Cells Blood Brain Barrier
             Lateral Ventricle
     
     Endothelium (Cardiovascular System)
             Mature Endothelial Cells Blood Brain Barrier
    CD320 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    CD320 Protein Expression

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

    Orthologs for CD320 gene from Selected 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 70.42(n)1
    59.74(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)
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    Paralogs for CD320 gene
    7 SIMAP similar genes for CD320 using alignment to 3 protein entries:     CD320_HUMAN (see all proteins):
    LRP12    LRP4    LRP6    SPINT1    SORL1    LDLRAD3
    LRP8

    Find genes that share paralogs with CD320           About GenesLikeMe



    (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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for CD320 (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
    Site Specific Mutation Identification with PCR Assays
    1 Copy Number PCR Panel 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, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    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

  • 13 diseases for CD320:    
    About MalaCards
    methylmalonic aciduria due to transcobalamin receptor defect    methylmalonic aciduria and homocystinuria type cble    methylmalonic aciduria and homocystinuria type cblg    methylmalonic aciduria and homocystinuria type cbld
    methylmalonic aciduria and homocystinuria type cblf    methylmalonic aciduria and homocystinuria type cblc    intrinsic factor deficiency    cblg
    cble    cbld    cblf    multiple carboxylase deficiency
    methylmalonic acidemia

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

    Find genes that share disorders with CD320           About GenesLikeMe

    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)
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    PubMed articles for CD320 gene, integrated from 10 sources (see all 32):
    (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. (J. Exp. Med. 2000)
    2. Positive newborn screen for methylmalonic aciduria identifies the first mutation in TCblR/CD320, the gene for cellular uptake of transcobalamin-bound vitamin B(12). (PubMed id 20524213)1, 2 Quadros E.V.... Rosenblatt D.S. (Hum. Mutat. 2010)
    3. Transcobalamin II receptor polymorphisms are associated with increased risk for neural tube defects. (PubMed id 20577008)1, 4 Pangilinan F....Brody L.C. (J. Med. Genet. 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. (Blood 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. (Genome Res. 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. (Genome Res. 2003)
    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. (Genome Res. 2001)
    8. 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. (J. Immunol. 2001)
    9. Expression of CD320 in human B cells in addition to follicular dendritic cells. (PubMed id 19123977)1, 9 Cho W....Choe J. (BMB Rep 2008)
    10. Mapping the functional domains of TCblR/CD320, the receptor for cellular uptake of transcobalamin-bound cobalamin. (PubMed id 23603833)1 Jiang W....Quadros E.V. (FASEB J. 2013)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 51293 HGNC: 16692 AceView: NDUFA7and8D6AandFLJ46061 Ensembl:ENSG00000167775 euGenes: HUgn51293
    ECgene: CD320 H-InvDB: CD320

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    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.)
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    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



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, eBioscience, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
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