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    CD164 CD164 molecule [ Homo sapiens (human) ]

    Gene ID: 8763, updated on 22-May-2022

    Summary

    Official Symbol
    CD164provided by HGNC
    Official Full Name
    CD164 moleculeprovided by HGNC
    Primary source
    HGNC:HGNC:1632
    See related
    Ensembl:ENSG00000135535 MIM:603356; AllianceGenome:HGNC:1632
    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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See CD164 in Genome Data Viewer
    Location:
    6q21
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    110 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (109366514..109382467, complement)
    110 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (110544551..110560504, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (109687717..109703670, complement)

    Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene coiled-coil domain containing 162, pseudogene Neighboring gene RNY3 pseudogene 11 Neighboring gene ribosomal protein L7 pseudogene 28 Neighboring gene Sharpr-MPRA regulatory region 15445 Neighboring gene peptidylprolyl isomerase like 6 Neighboring gene sphingomyelin phosphodiesterase 2

    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?

    Phenotypes

    Associated conditions

    Description Tests
    Autosomal dominant nonsyndromic hearing loss 66
    MedGen: C4283893 OMIM: 616969 GeneReviews: Not available
    Compare labs

    EBI GWAS Catalog

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

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Component Evidence Code Pubs
    is_active_in cytoplasmic vesicle IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    is_active_in endosome IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    located_in endosome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in endosome membrane IEA
    Inferred from Electronic Annotation
    more info
     
    located_in extracellular region IEA
    Inferred from Electronic Annotation
    more info
     
    located_in integral component of plasma membrane NAS
    Non-traceable Author Statement
    more info
    PubMed 
    located_in lysosomal membrane IEA
    Inferred from Electronic Annotation
    more info
     
    is_active_in lysosome IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    located_in lysosome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in 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)

    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_051926.1 RefSeqGene

      Range
      5346..21299
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_1419

    mRNA and Protein(s)

    1. NM_001142401.3NP_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, BM668503, DC402684
      Consensus CDS
      CCDS47464.1
      UniProtKB/Swiss-Prot
      Q04900
      Related
      ENSP00000275080.7, ENST00000275080.11
      Conserved Domains (1) summary
      pfam05283
      Location:60184
      MGC-24; Multi-glycosylated core protein 24 (MGC-24), sialomucin
    2. NM_001142402.3NP_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, BM668503, DC402684
      Consensus CDS
      CCDS47465.1
      UniProtKB/Swiss-Prot
      Q04900
      Related
      ENSP00000314177.5, ENST00000324953.9
      Conserved Domains (1) summary
      pfam05283
      Location:60178
      MGC-24; Multi-glycosylated core protein 24 (MGC-24), sialomucin
    3. NM_001142403.3NP_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
      Consensus CDS
      CCDS47463.1
      UniProtKB/Swiss-Prot
      Q04900
      Related
      ENSP00000402237.2, ENST00000413644.6
      Conserved Domains (1) summary
      pfam05283
      Location:60174
      MGC-24; Multi-glycosylated core protein 24 (MGC-24), sialomucin
    4. NM_001142404.3NP_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, BM668503, BM830140, DC402684, EB388947
      Consensus CDS
      CCDS47462.1
      UniProtKB/Swiss-Prot
      Q04900
      Related
      ENSP00000427546.1, ENST00000512821.5
      Conserved Domains (1) summary
      pfam05283
      Location:60130
      MGC-24; Multi-glycosylated core protein 24 (MGC-24), sialomucin
    5. NM_001346500.2NP_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)
      AL359711
      Consensus CDS
      CCDS87430.1
      UniProtKB/Swiss-Prot
      Q04900
      UniProtKB/TrEMBL
      D6R9B4
      Related
      ENSP00000422999.1, ENST00000504373.2
      Conserved Domains (1) summary
      pfam05283
      Location:26163
      MGC-24; Multi-glycosylated core protein 24 (MGC-24), sialomucin
    6. NM_006016.6NP_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
      Consensus CDS
      CCDS5073.1
      UniProtKB/Swiss-Prot
      Q04900
      Related
      ENSP00000309376.4, ENST00000310786.10
      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 110 details...Open this link in a new tab

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000006.12 Reference GRCh38.p14 Primary Assembly

      Range
      109366514..109382467 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060930.1 Alternate T2T-CHM13v2.0

      Range
      110544551..110560504 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)