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 (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
19
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
AUTOSOMAL DOMINANT ISOLATED SENSORINEURAL DEAFNESS TYPE DFNA Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
AUTOSOMAL DOMINANT NONSYNDROMIC HEARING LOSS ClinGen, GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Autosomal dominant nonsyndromic hearing loss 66 no classifications from unflagged records ClinVar
ClinVar, GWAS catalog
★★★☆☆
Reported in Unknown/Other Associations (≥2 sources)
CD164-related disorder Benign; Likely benign; Uncertain significance; Conflicting classifications of pathogenicity ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Adenocarcinoma Adenocarcinoma BEFREE 1478919
★☆☆☆☆
Found in Text Mining only
Aplastic Anemia Aplastic anemia BEFREE 28798776
★☆☆☆☆
Found in Text Mining only
Ataxia Telangiectasia Ataxia telangiectasia Pubtator 26524186 Associate
★☆☆☆☆
Found in Text Mining only
Autosomal dominant non-syndromic sensorineural deafness type DFNA Non-Syndromic Sensorineural Deafness Orphanet
★☆☆☆☆
Found in Text Mining only
Azoospermia Nonobstructive Nonobstructive azoospermia Pubtator 37083227 Inhibit
★☆☆☆☆
Found in Text Mining only
Bladder Neoplasm Bladder Neoplasm BEFREE 30022623
★☆☆☆☆
Found in Text Mining only
Brain Neoplasms Brain Neoplasms BEFREE 31007847
★☆☆☆☆
Found in Text Mining only
Breast Neoplasms Breast neoplasm Pubtator 22791584, 40692786 Associate
★☆☆☆☆
Found in Text Mining only
Carcinoma Carcinoma BEFREE 10833281
★☆☆☆☆
Found in Text Mining only
Carcinoma of bladder Bladder carcinoma BEFREE 30022623
★☆☆☆☆
Found in Text Mining only