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JAM3

Chr 11q25

junctional adhesion molecule 3

Aliases:
JAM-C, JAMC, JAM-3
MANE:
ENST00000299106.9

Annotations refreshed 10 hours ago.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

  • Bilateral congenital or childhood onset cataracts

    BIALLELIC, autosomal or pseudoautosomal
  • DDG2P

    BIALLELIC, autosomal or pseudoautosomal
  • Fetal anomalies

    BIALLELIC, autosomal or pseudoautosomal
  • Intellectual disability

    BIALLELIC, autosomal or pseudoautosomal
  • Intracerebral calcification disorders

    BIALLELIC, autosomal or pseudoautosomal
  • White matter disorders and cerebral calcification - narrow panel

    BIALLELIC, autosomal or pseudoautosomal
  • Inherited white matter disorders

  • Structural eye disease

    BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

  • porencephaly-microcephaly-bilateral congenital cataract syndrome

    0.79
  • atrial fibrillation

    0.35
  • stroke disorder

    0.26
  • alcohol drinking

    0.26
  • nephrotic syndrome

    0.25
  • temporomandibular joint disorder

    0.25
  • blood vessel replacement

    0.24
  • bronchial disorder

    0.24
  • corneal dystrophy

    0.24
  • hereditary disease

    0.19

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Junctional adhesion molecule C

Junctional adhesion protein that mediates heterotypic cell-cell interactions with its cognate receptor JAM2 to regulate different cellular processes (PubMed:11590146, PubMed:11823489). Plays a role in homing and mobilization of hematopoietic stem and progenitor cells within the bone marrow. At the surface of bone marrow stromal cells, it contributes to the retention of the hematopoietic stem and progenitor cells expressing JAM3 (PubMed:11590146, PubMed:24357068). Plays a central role in leukocytes extravasation by facilitating transmigration through the endothelium (By similarity). Plays a role in spermatogenesis where JAM2 and JAM3, which are respectively expressed by Sertoli and germ cells, mediate an interaction between both cell types and play an essential role in the anchorage of germ cells onto Sertoli cells and the assembly of cell polarity complexes during spermatid differentiation (By similarity). Also functions as a counter-receptor for ITGAM, mediating leukocyte-platelet interactions and is involved in the regulation of transepithelial migration of polymorphonuclear neutrophils (PMN) (PubMed:12208882, PubMed:15194813). Plays a role in angiogenesis (PubMed:23255084). Plays a role in the regulation of cell migration (Probable). During myogenesis, it is involved in myocyte fusion (By similarity)

Data sources: HGNC (CC BY 4.0), AlphaFold (CC BY 4.0, Jumper et al. Nature 2021), Genomics England PanelApp (CC BY 4.0), ClinGen, Open Targets (CC0), UniProt.

Not for sole clinical decision-making. Always verify against primary sources.