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    CD164 CD164 molecule [ Homo sapiens (human) ]

    Gene ID: 8763, updated on 5-Aug-2018

    Summary

    Official Symbol
    CD164provided by HGNC
    Official Full Name
    CD164 moleculeprovided by HGNC
    Primary source
    HGNC:HGNC:1632
    See related
    Ensembl:ENSG00000135535 MIM:603356; Vega:OTTHUMG00000015339
    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
    DFNA66; MGC-24; MUC-24; MGC-24v; endolyn
    Summary
    This gene encodes a transmembrane sialomucin and cell adhesion molecule that regulates the proliferation, adhesion and migration of hematopoietic progenitor cells. The encoded protein also interacts with the C-X-C chemokine receptor type 4 and may regulate muscle development. Elevated expression of this gene has been observed in human patients with Sezary syndrome, a type of blood cancer, and a mutation in this gene may be associated with impaired hearing. [provided by RefSeq, Oct 2016]
    Expression
    Ubiquitous expression in thyroid (RPKM 246.6), fat (RPKM 191.2) and 25 other tissues See more
    Orthologs

    Genomic context

    See CD164 in Genome Data Viewer
    Location:
    6q21
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    109 current GRCh38.p12 (GCF_000001405.38) 6 NC_000006.12 (109366514..109382812, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (109687717..109703762, complement)

    Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene coiled-coil domain containing 162, pseudogene Neighboring gene uncharacterized LOC101927538 Neighboring gene ribosomal protein L7 pseudogene 28 Neighboring gene peptidylprolyl isomerase like 6 Neighboring gene microtubule associated monooxygenase, calponin and LIM domain containing 1 Neighboring gene sphingomyelin phosphodiesterase 2 Neighboring gene zinc finger and BTB domain containing 24

    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 Jun 15 11:32:44 2016

    Bibliography

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    Deafness, autosomal dominant 66
    MedGen: C4283893 OMIM: 616969 GeneReviews: Not available
    Compare labs

    NHGRI GWAS Catalog

    Description
    Genome-wide association analysis of red blood cell traits in African Americans: the COGENT Network.
    NHGRI GWA Catalog
    Genome-wide association study of hematological and biochemical traits in a Japanese population.
    NHGRI GWA Catalog
    Many sequence variants affecting diversity of adult human height.
    NHGRI GWA Catalog
    Multiple loci influence erythrocyte phenotypes in the CHARGE Consortium.
    NHGRI GWA Catalog

    HIV-1 interactions

    Replication interactions

    Interaction Pubs
    Infectious wild type HIV-1 production is restricted by 293T cells over-expressing CD164 PubMed
    Knockdown of CD164 molecule (sialomucin) by siRNA inhibits the early stages of HIV-1 replication in 293T cells infected with VSV-G pseudotyped HIV-1 PubMed

    Protein interactions

    Protein Gene Interaction Pubs
    Nef nef Both HIV-1 Nef and Vpu downregulate the cell surface expression of CD164 PubMed
    Vpu vpu Both HIV-1 Nef and Vpu downregulate the cell surface expression of CD164 PubMed

    Go to the HIV-1, Human Interaction Database

    Pathways from BioSystems

    • Lysosome, organism-specific biosystem (from KEGG)
      Lysosome, organism-specific biosystemLysosomes are membrane-delimited organelles in animal cells serving as the cell's main digestive compartment to which all sorts of macromolecules are delivered for degradation. They contain more than...
    • Lysosome, conserved biosystem (from KEGG)
      Lysosome, conserved biosystemLysosomes are membrane-delimited organelles in animal cells serving as the cell's main digestive compartment to which all sorts of macromolecules are delivered for degradation. They contain more than...

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    cell adhesion IDA
    Inferred from Direct Assay
    more info
    PubMed 
    hemopoiesis NAS
    Non-traceable Author Statement
    more info
    PubMed 
    heterophilic cell-cell adhesion via plasma membrane cell adhesion molecules IDA
    Inferred from Direct Assay
    more info
    PubMed 
    immune response TAS
    Traceable Author Statement
    more info
    PubMed 
    multicellular organism development TAS
    Traceable Author Statement
    more info
    PubMed 
    muscle organ development IEA
    Inferred from Electronic Annotation
    more info
     
    negative regulation of cell adhesion NAS
    Non-traceable Author Statement
    more info
    PubMed 
    negative regulation of cell proliferation NAS
    Non-traceable Author Statement
    more info
    PubMed 
    signal transduction TAS
    Traceable Author Statement
    more info
    PubMed 
    Component Evidence Code Pubs
    cytoplasmic vesicle IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    endosome IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    endosome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    endosome membrane IEA
    Inferred from Electronic Annotation
    more info
     
    extracellular region IEA
    Inferred from Electronic Annotation
    more info
     
    integral component of plasma membrane NAS
    Non-traceable Author Statement
    more info
    PubMed 
    lysosomal membrane IEA
    Inferred from Electronic Annotation
    more info
     
    lysosome IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    lysosome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 

    General protein information

    Preferred Names
    sialomucin core protein 24
    Names
    CD164 antigen, sialomucin
    multi-glycosylated core protein 24

    NCBI Reference Sequences (RefSeq)

    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_051926.1 RefSeqGene

      Range
      5001..21299
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001142401.2NP_001135873.1  sialomucin core protein 24 isoform 2 precursor

      See identical proteins and their annotated locations for NP_001135873.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks an in-frame exon in the coding region, compared to variant 1. It encodes isoform 2 which is shorter than isoform 1.
      Source sequence(s)
      AF299343, AL359711, BM668503, DC402684
      Consensus CDS
      CCDS47464.1
      UniProtKB/Swiss-Prot
      Q04900
      Related
      ENSP00000275080.7, OTTHUMP00000016957, ENST00000275080.11, OTTHUMT00000041743
      Conserved Domains (1) summary
      pfam05283
      Location:60184
      MGC-24; Multi-glycosylated core protein 24 (MGC-24), sialomucin
    2. NM_001142402.2NP_001135874.1  sialomucin core protein 24 isoform 3 precursor

      See identical proteins and their annotated locations for NP_001135874.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) lacks an in-frame exon in the coding region, compared to variant 1. It encodes isoform 3 which is shorter than isoform 1.
      Source sequence(s)
      AF299342, AL359711, BM668503, DC402684
      Consensus CDS
      CCDS47465.1
      UniProtKB/Swiss-Prot
      Q04900
      Related
      ENSP00000314177.5, OTTHUMP00000016955, ENST00000324953.9, OTTHUMT00000041741
      Conserved Domains (1) summary
      pfam05283
      Location:60178
      MGC-24; Multi-glycosylated core protein 24 (MGC-24), sialomucin
    3. NM_001142403.2NP_001135875.1  sialomucin core protein 24 isoform 4 precursor

      See identical proteins and their annotated locations for NP_001135875.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) uses alternate splice sites in the 3' coding region, compared to variant 1. It encodes isoform 4 which is shorter and has a distinct C-terminus, compared to isoform 1.
      Source sequence(s)
      AL359711, BC011522, BM668503, D14043, DC402684
      Consensus CDS
      CCDS47463.1
      UniProtKB/Swiss-Prot
      Q04900
      Related
      ENSP00000402237.2, OTTHUMP00000016954, ENST00000413644.6, OTTHUMT00000041740
      Conserved Domains (1) summary
      pfam05283
      Location:60174
      MGC-24; Multi-glycosylated core protein 24 (MGC-24), sialomucin
    4. NM_001142404.2NP_001135876.1  sialomucin core protein 24 isoform 5 precursor

      See identical proteins and their annotated locations for NP_001135876.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (5) uses an alternate splice site in the 3' coding region, compared to variant 1. It encodes isoform 5 which is shorter and has a distinct C-terminus, compared to isoform 1.
      Source sequence(s)
      AK298684, AL359711, BM668503, BM830140, DC402684, EB388947
      Consensus CDS
      CCDS47462.1
      UniProtKB/Swiss-Prot
      Q04900
      Related
      ENSP00000427546.1, OTTHUMP00000220523, ENST00000512821.5, OTTHUMT00000365625
      Conserved Domains (1) summary
      pfam05283
      Location:60130
      MGC-24; Multi-glycosylated core protein 24 (MGC-24), sialomucin
    5. NM_001346500.1NP_001333429.1  sialomucin core protein 24 isoform 6

      Status: REVIEWED

      Description
      Transcript Variant: This variant (6) differs in the 5' UTR, lacks a portion of the 5' coding region, and uses an alternate translation start site compared to variant 1. The encoded isoform (6) has a shorter and distinct N-terminus, and lacks a predicted signal peptide compared to isoform 1.
      Source sequence(s)
      AK310854, AL359711, BC011522, BM668503
      Consensus CDS
      CCDS87430.1
      UniProtKB/Swiss-Prot
      Q04900
      UniProtKB/TrEMBL
      D6R9B4
      Related
      ENSP00000422999.1, ENST00000504373.2
    6. NM_006016.5NP_006007.2  sialomucin core protein 24 isoform 1 precursor

      See identical proteins and their annotated locations for NP_006007.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
      Source sequence(s)
      AL359711, BC011522, BM668503, DC402684
      Consensus CDS
      CCDS5073.1
      UniProtKB/Swiss-Prot
      Q04900
      Related
      ENSP00000309376.4, OTTHUMP00000016956, ENST00000310786.9, OTTHUMT00000041742
      Conserved Domains (1) summary
      pfam05283
      Location:60197
      MGC-24; Multi-glycosylated core protein 24 (MGC-24), sialomucin

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

    Reference GRCh38.p12 Primary Assembly

    Genomic

    1. NC_000006.12 Reference GRCh38.p12 Primary Assembly

      Range
      109366514..109382812 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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