Gene Gene information from NCBI Gene database.
Entrez ID 8763
Gene name CD164 molecule
Gene symbol CD164
Synonyms (NCBI Gene)
DFNA66MGC-24MGC-24vMUC-24endolyn
Chromosome 6
Chromosome location 6q21
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 regulat
SNPs SNP information provided by dbSNP.
1
SNP ID Visualize variation Clinical significance Consequence
rs876661402 G>A Pathogenic Stop gained, coding sequence variant, intron variant
miRNA miRNA information provided by mirtarbase database.
1187
miRTarBase ID miRNA Experiments Reference
MIRT004165 hsa-miR-192-5p Microarray 16822819
MIRT002730 hsa-miR-124-3p MicroarrayqRT-PCR 16549876
MIRT002730 hsa-miR-124-3p Microarray 15685193
MIRT021841 hsa-miR-132-3p Microarray 17612493
MIRT002730 hsa-miR-124-3p Microarray 18668037
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
24
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 17077324, 24094005, 25416956, 32296183
GO:0005576 Component Extracellular region IEA
GO:0005764 Component Lysosome IBA
GO:0005764 Component Lysosome IDA 11027692
GO:0005764 Component Lysosome IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
603356 1632 ENSG00000135535
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q04900
Protein name Sialomucin core protein 24 (MUC-24) (Endolyn) (Multi-glycosylated core protein 24) (MGC-24) (MGC-24v) (CD antigen CD164)
Protein function Sialomucin that may play a key role in hematopoiesis by facilitating the adhesion of CD34(+) cells to the stroma and by negatively regulating CD34(+)CD38(lo/-) cell proliferation. Modulates the migration of umbilical cord blood CD133+ cells and
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF05283 MGC-24 60 197 Multi-glycosylated core protein 24 (MGC-24), sialomucin Family
Tissue specificity TISSUE SPECIFICITY: Isoform 1 and isoform 3 are expressed in hematopoietic and non-hematopoietic tissues. Isoform 1 is expressed by prostate cancer tumors and prostate cancer cell lines. The expression is greater in bone metastases than in primary tumors.
Sequence
Sequence length 197
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG 
  Lysosome  
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
25
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Autosomal dominant nonsyndromic hearing loss 66 no classifications from unflagged records rs876661402 RCV000223938
CD164-related disorder Benign; Likely benign; Uncertain significance; Conflicting classifications of pathogenicity rs113902228, rs373906087, rs145269975, rs1192435598, rs761993548, rs1265838441, rs73762715, rs147143577, rs145357332, rs62436104, rs199887608 RCV003911000
RCV004752050
RCV004752144
RCV003898709
RCV003412069
RCV003414138
RCV003907306
RCV003957175
RCV003935384
RCV003917934
RCV004751749
Cholangiocarcinoma Likely benign rs145666240 RCV005920874
EBV-positive nodal T- and NK-cell lymphoma Likely benign rs2482473942 RCV004558109
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Ataxia Telangiectasia Associate 26524186
Azoospermia Nonobstructive Inhibit 37083227
Breast Neoplasms Associate 22791584, 40692786
Carcinoma Signet Ring Cell Associate 16740030
Colonic Neoplasms Inhibit 10833281
Colorectal Neoplasms Inhibit 10833281
Colorectal Neoplasms Associate 1478919, 33125110
Drug Hypersensitivity Associate 20872290
Hereditary Breast and Ovarian Cancer Syndrome Associate 16740030
Leukemia Myeloid Acute Associate 32219447