Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
8763
Gene name Gene Name - the full gene name approved by the HGNC.
CD164 molecule
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
CD164
Synonyms (NCBI Gene) Gene synonyms aliases
DFNA66, MGC-24, MGC-24v, MUC-24, endolyn
Chromosome Chromosome number
6
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
6q21
Summary Summary of gene provided in NCBI Entrez Gene.
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.
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.
miRTarBase ID miRNA Experiments Reference
MIRT004165 hsa-miR-192-5p Microarray 16822819
MIRT002730 hsa-miR-124-3p Microarray, qRT-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 information of associated ontologies with gene provided by GO database.
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 ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
603356 1632 ENSG00000135535
Protein
UniProt ID 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 categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Deafness autosomal dominant nonsyndromic hearing loss, Autosomal dominant nonsyndromic hearing loss 66, autosomal dominant nonsyndromic hearing loss 66 N/A N/A GenCC, ClinVar
Associations from Text Mining Disease 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