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    CD320 CD320 molecule [ Homo sapiens (human) ]

    Gene ID: 51293, updated on 11-Apr-2024

    Summary

    Official Symbol
    CD320provided by HGNC
    Official Full Name
    CD320 moleculeprovided by HGNC
    Primary source
    HGNC:HGNC:16692
    See related
    Ensembl:ENSG00000167775 MIM:606475; AllianceGenome:HGNC:16692
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    8D6; 8D6A; TCBLR; TCN2R; TCII-R; sCD320
    Summary
    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]
    Expression
    Ubiquitous expression in spleen (RPKM 26.7), colon (RPKM 20.1) and 25 other tissues See more
    Orthologs
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    Genomic context

    See CD320 in Genome Data Viewer
    Location:
    19p13.2
    Exon count:
    5
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (8302127..8308358, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (8288656..8294880, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (8367011..8373242, complement)

    Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene ALG11, alpha-1,2-mannosyltransferase pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13906 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13907 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13908 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:8260104-8260957 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:8260958-8261810 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:8268618-8269588 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10013 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:8280063-8280564 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:8285012-8285518 Neighboring gene ceramide synthase 4 Neighboring gene uncharacterized LOC107985282 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10014 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13910 Neighboring gene MPRA-validated peak3333 silencer Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:8368800-8369366 Neighboring gene H3K27ac hESC enhancer GRCh37_chr19:8372005-8372745 Neighboring gene H3K27ac hESC enhancer GRCh37_chr19:8372746-8373485 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:8373541-8374070 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:8376825-8377427 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:8380680-8381486 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:8384379-8385346 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancers GRCh37_chr19:8385347-8386314 and GRCh37_chr19:8386315-8387282 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:8387283-8388248 Neighboring gene NADH:ubiquinone oxidoreductase subunit A7 Neighboring gene ribosomal protein S28 Neighboring gene KN motif and ankyrin repeat domains 3

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    HIV-1 interactions

    Replication interactions

    Interaction Pubs
    HIV-1 infection (VSV-G pseudotyped) of CEMT4 T cells downregulates plasma membrane expression of CD320 PubMed

    Protein interactions

    Protein Gene Interaction Pubs
    Nef nef The yeast two-hybrid screen identifies the HIV-1 Nef interacting human protein CD320 (TCBLR), which co-localizes with Nef mainly at the perinuclear region PubMed

    Go to the HIV-1, Human Interaction Database

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables calcium ion binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables cargo receptor activity EXP
    Inferred from Experiment
    more info
    PubMed 
    enables cobalamin binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables growth factor activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in B cell costimulation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in cobalamin transport IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in cobalamin transport TAS
    Traceable Author Statement
    more info
     
    involved_in positive regulation of B cell proliferation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in regulation of vitamin metabolic process IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in signal transduction IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in ventral spinal cord development IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in vesicle-mediated transport IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    is_active_in caveola IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in endoplasmic reticulum IDA
    Inferred from Direct Assay
    more info
     
    located_in membrane HDA PubMed 
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in plasma membrane TAS
    Traceable Author Statement
    more info
     

    General protein information

    Preferred Names
    CD320 antigen
    Names
    8D6 antigen
    FDC-SM-8D6
    FDC-signaling molecule 8D6
    soluble CD320
    transcobalamin 2 receptor
    transcobalamin receptor

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_028124.2 RefSeqGene

      Range
      5000..11231
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001165895.2NP_001159367.1  CD320 antigen isoform 2 precursor

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks an in-frame coding exon compared to variant 1, resulting in a shorter isoform (2) missing an internal protein segment compared to isoform 1.
      Source sequence(s)
      AC010323
      Consensus CDS
      CCDS54210.1
      UniProtKB/Swiss-Prot
      Q9NPF0
      Related
      ENSP00000437697.1, ENST00000537716.6
      Conserved Domains (1) summary
      cd00112
      Location:90125
      LDLa; Low Density Lipoprotein Receptor Class A domain, a cysteine-rich repeat that plays a central role in mammalian cholesterol metabolism; the receptor protein binds LDL and transports it into cells by endocytosis; 7 successive cysteine-rich repeats of about ...
    2. NM_016579.4NP_057663.1  CD320 antigen isoform 1 precursor

      See identical proteins and their annotated locations for NP_057663.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longer isoform (1).
      Source sequence(s)
      AC010323
      Consensus CDS
      CCDS12198.1
      UniProtKB/Swiss-Prot
      B2RDS5, D6W668, F5H6D3, Q53HF7, Q9NPF0
      Related
      ENSP00000301458.4, ENST00000301458.10
      Conserved Domains (1) summary
      cd00112
      Location:5489
      LDLa; Low Density Lipoprotein Receptor Class A domain, a cysteine-rich repeat that plays a central role in mammalian cholesterol metabolism; the receptor protein binds LDL and transports it into cells by endocytosis; 7 successive cysteine-rich repeats of about ...

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000019.10 Reference GRCh38.p14 Primary Assembly

      Range
      8302127..8308358 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060943.1 Alternate T2T-CHM13v2.0

      Range
      8288656..8294880 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)