JAM3: Difference between revisions

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==Interactions==
==Interactions==


JAM3 has been shown to [[Protein-protein interaction|interact]] with [[PARD3]].<ref name="pmid12953056">{{cite journal |vauthors=Ebnet K, Aurrand-Lions M, Kuhn A, Kiefer F, Butz S, Zander K, Meyer zu Brickwedde MK, Suzuki A, Imhof BA, Vestweber D | title = 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 | journal = J. Cell Sci. | volume = 116 | issue = Pt 19 | pages = 3879–91 |date=October 2003 | pmid = 12953056 | doi = 10.1242/jcs.00704 }}</ref>
JAM3 has been shown to [[Protein-protein interaction|interact]] with [[PARD3]].<ref name="pmid12953056">{{cite journal |vauthors=Ebnet K, Aurrand-Lions M, Kuhn A, Kiefer F, Butz S, Zander K, Meyer zu Brickwedde MK, Suzuki A, Imhof BA, Vestweber D | title = 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 | journal = J. Cell Sci. | volume = 116 | issue = Pt 19 | pages = 3879–91 |date=October 2003 | pmid = 12953056 | doi = 10.1242/jcs.00704 | url = https://archive-ouverte.unige.ch/unige:11233/ATTACHMENT01 }}</ref>


== Clinical significance ==
== Clinical significance ==


Mutations in this gene have been associated with a rare syndrome - autosomal recessive hemorrhagic destruction of the brain, subependymal calcification and congenital cataracts.<ref name="pmid23255084">{{cite journal |vauthors=Akawi NA, Canpolat FE, White SM, Quilis-Esquerra J, Sanchez MM, Gamundi MJ, Mochida GH, Walsh CA, Ali BR, Al-Gazali L | title = 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 | journal = Hum. Mutat. | volume = 34| issue = 3| pages = 498–505|date=December 2012 | pmid = 23255084 | doi = 10.1002/humu.22263 }}</ref>
Mutations in this gene have been associated with a rare syndrome - autosomal recessive hemorrhagic destruction of the brain, subependymal calcification and congenital cataracts.<ref name="pmid23255084">{{cite journal |vauthors=Akawi NA, Canpolat FE, White SM, Quilis-Esquerra J, Sanchez MM, Gamundi MJ, Mochida GH, Walsh CA, Ali BR, Al-Gazali L | title = 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 | journal = Hum. Mutat. | volume = 34| issue = 3| pages = 498–505|date=December 2012 | pmid = 23255084 | doi = 10.1002/humu.22263 | pmc = 3951164}}</ref>


==References==
==References==

Latest revision as of 12:24, 4 November 2018

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Identifiers
Aliases
External IDsGeneCards: [1]
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

n/a

n/a

RefSeq (protein)

n/a

n/a

Location (UCSC)n/an/a
PubMed searchn/an/a
Wikidata
View/Edit Human

Junctional adhesion molecule C is a protein that in humans is encoded by the JAM3 gene.[1]

Gene

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

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.[1]

Interactions

JAM3 has been shown to interact with PARD3.[2]

Clinical significance

Mutations in this gene have been associated with a rare syndrome - autosomal recessive hemorrhagic destruction of the brain, subependymal calcification and congenital cataracts.[3]

References

  1. 1.0 1.1 "Entrez Gene: JAM3 junctional adhesion molecule 3".
  2. 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. doi:10.1242/jcs.00704. PMID 12953056.
  3. 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. doi:10.1002/humu.22263. PMC 3951164. PMID 23255084.

Further reading