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CD164 CD164 molecule [ Homo sapiens (human) ]

Gene ID: 8763, updated on 17-Jun-2019

Summary

Official Symbol
CD164provided by HGNC
Official Full Name
CD164 moleculeprovided by HGNC
Primary source
HGNC:HGNC:1632
See related
Ensembl:ENSG00000135535 MIM:603356
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
109.20190607 current GRCh38.p13 (GCF_000001405.39) 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 Apr 4 07:08:55 2018

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
not available

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
    5346..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, ENST00000275080.11
    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, 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_001142404.2NP_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, 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
  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 109

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000006.12 Reference GRCh38.p13 Primary Assembly

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