Monocyte Differentiation Antigen CD14

Alternative Names

  • CD14
  • Myeloid Cell-Specific Leucine-Rich Glycoprotein
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OMIM Number

158120

NCBI Gene ID

929

Uniprot ID

P08571

Length

1,974 bases

No. of Exons

3

No. of isoforms

1

Protein Name

Monocyte differentiation antigen CD14

Molecular Mass

40076 Da

Amino Acid Count

375

Genomic Location

chr5:140,631,728-140,633,701

Gene Map Locus
5q31.3

Description

CD14 gene provides instruction for making a surface antigen that is preferentially expressed on monocytes/macrophages.  This protein is an important player in host innate immunity; it mediates host defense against Gram-negative bacterial infections and also confers immunity against viral infections.  CD14 has a wide range of functions and associations; it binds to monomeric lipopolysaccharide and delivers it to the MD-2/TLR4 complex, thereby mediating the innate immune response to bacterial lipopolysaccharide (LPS).  It also acts via MyD88, TIRAP and TRAF6, leading to NF-kappa-B activation, cytokine secretion and the inflammatory response, and up-regulates cell surface molecules, including adhesion molecules.  It is expressed as either a 55 kDa membrane bound protein (mCD14), or as a 48 kDa soluble plasma protein (sCD14).

Mutations in CD14 are known to be associated with Crohn’s disease, decreased lung function, and hypercholesterolemia.

Epidemiology in the Arab World

View Map
Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_001040021.3:c.-121-139T>CLebanonchr5:140633331AssociationNG_023178.1:g.5371T>C; NM_001040021.3:c.-121-139T>C2569190

Other Reports

Saudi Arabia

Azzam et al (2012) analyzed three common NOD2 mutations (Leu1007fsinsC, Arg702Trp, Gly908Arg), as well as TLR4 (Thr399II) and CD4 159C/T gene promoter polymorphism, to investigate the contribution of these variants to the predisposition to Crohn’s disease among Saudi population.  Forty six Saudi with CD and 50 matched controls were included in the study.  The genotype mutant frequencies for CD14 −159C/T were 15% for the CD patients and 10% for the controls.  The authors suggested that the CD14 -159C/T polymorphism is associated with Crohn's disease (CD) susceptibility in the Saudi population.

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