JAM3

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JAM3
Identifiers
Aliases JAM3, JAM-2, JAM-3, JAM-C, JAMC, junctional adhesion molecule 3
External IDs MGI: 1933825 HomoloGene: 11338 GeneCards: JAM3
RNA expression pattern
PBB GE JAM3 gnf1h00503 at fs.png

PBB GE JAM3 212813 at fs.png
More reference expression data
Orthologs
Species Human Mouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_032801
NM_001205329

NM_023277

RefSeq (protein)

NP_001192258
NP_116190

NP_075766

Location (UCSC) Chr 11: 134.07 – 134.15 Mb Chr 9: 27.1 – 27.16 Mb
PubMed search [1] [2]
Wikidata
View/Edit Human View/Edit Mouse

Junctional adhesion molecule C is a protein that in humans is encoded by the JAM3 gene.[3]

Gene[edit]

This gene is located on the long arm of chromosome 11 (11q25) on the Watson strand. It is 83,077 bases in length. The encoded protein is 310 amino acids long with a predicted molecular weight of 35.02 kiloDaltons.

Function[edit]

Tight junctions represent one mode of cell-to-cell adhesion in epithelial or endothelial cell sheets, forming continuous seals around cells and serving as a physical barrier to prevent solutes and water from passing freely through the paracellular space. The protein encoded by this immunoglobulin superfamily gene member is localized in the tight junctions between high endothelial cells. Unlike other proteins in this family, this protein is unable to adhere to leukocyte cell lines and only forms weak homotypic interactions. The encoded protein is a member of the junctional adhesion molecule protein family and acts as a receptor for another member of this family.[3]

Interactions[edit]

JAM3 has been shown to interact with PARD3.[4]

Clinical significance[edit]

Mutations in this gene have been associated with a rare syndrome - autosomal recessive hemorrhagic destruction of the brain, subependymal calcification and congenital cataracts.[5]

References[edit]

  1. ^ "Human PubMed Reference:". 
  2. ^ "Mouse PubMed Reference:". 
  3. ^ a b "Entrez Gene: JAM3 junctional adhesion molecule 3". 
  4. ^ Ebnet K, Aurrand-Lions M, Kuhn A, Kiefer F, Butz S, Zander K, Meyer zu Brickwedde MK, Suzuki A, Imhof BA, Vestweber D (October 2003). "The junctional adhesion molecule (JAM) family members JAM-2 and JAM-3 associate with the cell polarity protein PAR-3: a possible role for JAMs in endothelial cell polarity". J. Cell. Sci. 116 (Pt 19): 3879–91. PMID 12953056. doi:10.1242/jcs.00704. 
  5. ^ Akawi NA, Canpolat FE, White SM, Quilis-Esquerra J, Sanchez MM, Gamundi MJ, Mochida GH, Walsh CA, Ali BR, Al-Gazali L (December 2012). "Delineation of the Clinical, Molecular and Cellular Aspects of Novel JAM3 Mutations Underlying the Autosomal Recessive Hemorrhagic Destruction of the Brain, Subependymal Calcification and Congenital Cataracts". Hum. Mutat. 34 (3): 498–505. PMID 23255084. doi:10.1002/humu.22263. 

Further reading[edit]