• Gene id: 8763

Gene Summary

• Gene Symbol: CD164   Gene   UCSC   Ensembl
• Aliases: DFNA66, MGC-24, MGC-24v, MUC-24, endolyn
• Gene name: CD164 molecule
• Alternate names: sialomucin core protein 24, CD164 antigen, sialomucin, multi-glycosylated core protein 24,
• Gene location: 6q21 (109382811: 109366513)     Exons: 7     NC_000006.12
• Gene summary(Entrez): 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
• OMIM: 603356

Protein Summary

• Protein general information: Q04900  
  • Name: Sialomucin core protein 24 (MUC 24) (Endolyn) (Multi glycosylated core protein 24) (MGC 24) (MGC 24v) (CD antigen CD164)
  • Length: 197  
  • Mass: 20917
  • 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:

  MSRLSRSLLWAATCLGVLCVLSADKNTTQHPNVTTLAPISNVTSAPVTSLPLVTTPAPETCEGRNSCVSCFNVSV
  VNTTCFWIECKDESYCSHNSTVSDCQVGNTTDFCSVSTATPVPTANSTAKPTVQPSPSTTSKTVTTSGTTNNTVT
  PTSQPVRKSTFDAASFIGGIVLVLGVQAVIFFLYKFCKSKERNYHTL

• Structural information:
  • Interpro: IPR007947  
  • DIP: 43970
  • STRING: ENSP00000309376
• Other Databases: GeneCards:  CD164  Malacards:  CD164

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0031410	cytoplasmic vesicle	IBA	cellular component
GO:0005768	endosome	IBA	cellular component
GO:0005764	lysosome	IBA	cellular component
GO:0005768	endosome	IDA	cellular component
GO:0005886	plasma membrane	IDA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005576	extracellular region	IEA	cellular component
GO:0005768	endosome	IEA	cellular component
GO:0005764	lysosome	IEA	cellular component
GO:0007517	muscle organ development	IEA	biological process
GO:0016021	integral component of membrane	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0007155	cell adhesion	IEA	biological process
GO:0005886	plasma membrane	TAS	cellular component
GO:0005887	integral component of plasma membrane	TAS	cellular component
GO:0006955	immune response	TAS	biological process
GO:0007155	cell adhesion	TAS	biological process
GO:0007275	multicellular organism development	TAS	biological process
GO:0007165	signal transduction	TAS	biological process
GO:0008285	negative regulation of cell population proliferation	TAS	biological process
GO:0007157	heterophilic cell-cell adhesion via plasma membrane cell adhesion molecules	IDA	biological process
GO:0007155	cell adhesion	IDA	biological process
GO:0005886	plasma membrane	IDA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005768	endosome	IEA	cellular component
GO:0005764	lysosome	IEA	cellular component
GO:0005576	extracellular region	IEA	cellular component
GO:0005765	lysosomal membrane	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0010008	endosome membrane	IEA	cellular component
GO:0005768	endosome	IDA	cellular component
GO:0005764	lysosome	IDA	cellular component
GO:0030097	hemopoiesis	NAS	biological process
GO:0008285	negative regulation of cell population proliferation	NAS	biological process
GO:0007162	negative regulation of cell adhesion	NAS	biological process
GO:0005887	integral component of plasma membrane	NAS	cellular component

KEGG pathways

Pathway id	Pathway name
hsa04142	Lysosome

Diseases

Associated diseases	References
Deafness, autosomal dominant	KEGG:H00604
Deafness, autosomal dominant	KEGG:H00604
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881