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Aliases for JAM3 Gene

Aliases for JAM3 Gene

  • Junctional Adhesion Molecule 3 2 3 4 5
  • JAM-2 3 4
  • JAM-3 3 4
  • JAM-C 3 4
  • JAMC 3

External Ids for JAM3 Gene

Previous GeneCards Identifiers for JAM3 Gene

  • GC11P136435
  • GC11P135453
  • GC11P133972
  • GC11P133476
  • GC11P133444
  • GC11P129893

Summaries for JAM3 Gene

Entrez Gene Summary for JAM3 Gene

  • 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, the 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. A mutation in an intron of this gene is associated with hemorrhagic destruction of the brain, subependymal calcification, and congenital cataracts. Alternative splicing results in multiple transcript variants.[provided by RefSeq, Apr 2011]

GeneCards Summary for JAM3 Gene

JAM3 (Junctional Adhesion Molecule 3) is a Protein Coding gene. Diseases associated with JAM3 include Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts and Porencephaly-Microcephaly-Bilateral Congenital Cataract Syndrome. Among its related pathways are ECM-receptor interaction and Tight junction. GO annotations related to this gene include protein homodimerization activity and integrin binding. An important paralog of this gene is JAM2.

UniProtKB/Swiss-Prot for JAM3 Gene

  • Participates in cell-cell adhesion. It is a counter-receptor for ITGAM, mediating leukocyte-platelet interactions and is involved in the regulation of transepithelial migration of polymorphonuclear neutrophils (PMN). The soluble form is a mediator of angiogenesis.

Gene Wiki entry for JAM3 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for JAM3 Gene

Genomics for JAM3 Gene

Regulatory Elements for JAM3 Gene

Enhancers for JAM3 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around JAM3 on UCSC Golden Path with GeneCards custom track

Promoters for JAM3 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around JAM3 on UCSC Golden Path with GeneCards custom track

Genomic Location for JAM3 Gene

Chromosome:
11
Start:
134,068,925 bp from pter
End:
134,152,001 bp from pter
Size:
83,077 bases
Orientation:
Plus strand

Genomic View for JAM3 Gene

Genes around JAM3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
JAM3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for JAM3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for JAM3 Gene

Proteins for JAM3 Gene

  • Protein details for JAM3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9BX67-JAM3_HUMAN
    Recommended name:
    Junctional adhesion molecule C
    Protein Accession:
    Q9BX67
    Secondary Accessions:
    • B3KWG9
    • Q8WWL8
    • Q96FL1

    Protein attributes for JAM3 Gene

    Size:
    310 amino acids
    Molecular mass:
    35020 Da
    Quaternary structure:
    • Interacts with JAM2. Interacts with ITGAM.
    SequenceCaution:
    • Sequence=CAC94776.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Alternative splice isoforms for JAM3 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for JAM3 Gene

Proteomics data for JAM3 Gene at MOPED

Post-translational modifications for JAM3 Gene

  • Proteolytically cleaved from endothelial cells surface into a soluble form by ADAM10 and ADAM17; the release of soluble JAM3 is increased by proinflammatory factors.
  • Ubiquitination at Lys 283 and Lys 305
  • Glycosylation at Asn 104, Asn 192, and Asn 198
  • Modification sites at PhosphoSitePlus

Other Protein References for JAM3 Gene

Antibody Products

No data available for DME Specific Peptides for JAM3 Gene

Domains & Families for JAM3 Gene

Protein Domains for JAM3 Gene

Suggested Antigen Peptide Sequences for JAM3 Gene

Graphical View of Domain Structure for InterPro Entry

Q9BX67

UniProtKB/Swiss-Prot:

JAM3_HUMAN :
  • Contains 1 Ig-like C2-type (immunoglobulin-like) domain.
  • Belongs to the immunoglobulin superfamily.
Domain:
  • Contains 1 Ig-like C2-type (immunoglobulin-like) domain.
  • Contains 1 Ig-like V-type (immunoglobulin-like) domain.
Family:
  • Belongs to the immunoglobulin superfamily.
genes like me logo Genes that share domains with JAM3: view

Function for JAM3 Gene

Molecular function for JAM3 Gene

UniProtKB/Swiss-Prot Function:
Participates in cell-cell adhesion. It is a counter-receptor for ITGAM, mediating leukocyte-platelet interactions and is involved in the regulation of transepithelial migration of polymorphonuclear neutrophils (PMN). The soluble form is a mediator of angiogenesis.
genes like me logo Genes that share phenotypes with JAM3: view

Human Phenotype Ontology for JAM3 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for JAM3 Gene

MGI Knock Outs for JAM3:

Animal Model Products

  • Taconic Biosciences Mouse Models for JAM3

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , miRNA , Transcription Factor Targets and HOMER Transcription for JAM3 Gene

Localization for JAM3 Gene

Subcellular locations from UniProtKB/Swiss-Prot for JAM3 Gene

Cell membrane; Single-pass type I membrane protein. Cell junction, desmosome. Secreted, extracellular space. Note=In epithelial cells, it is expressed at desmosomes but not at tight junctions (PubMed:15194813). Localizes at the cell surface of endothelial cells; treatment of endothelial cells with vascular endothelial growth factor stimulates recruitment of JAM3 to cell-cell contacts (PubMed:15994945).

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for JAM3 Gene COMPARTMENTS Subcellular localization image for JAM3 gene
Compartment Confidence
extracellular 5
golgi apparatus 5
plasma membrane 5

Gene Ontology (GO) - Cellular Components for JAM3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005615 extracellular space IDA 20592283
GO:0005886 plasma membrane TAS --
GO:0005923 bicellular tight junction IEA --
GO:0033010 paranodal junction IEA --
genes like me logo Genes that share ontologies with JAM3: view

Pathways & Interactions for JAM3 Gene

genes like me logo Genes that share pathways with JAM3: view

Gene Ontology (GO) - Biological Process for JAM3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001525 angiogenesis IDA 20592283
GO:0002250 adaptive immune response IEA --
GO:0007155 cell adhesion IEA --
GO:0007160 cell-matrix adhesion IEA --
GO:0007283 spermatogenesis IEA --
genes like me logo Genes that share ontologies with JAM3: view

No data available for SIGNOR curated interactions for JAM3 Gene

Drugs & Compounds for JAM3 Gene

No Compound Related Data Available

Transcripts for JAM3 Gene

Unigene Clusters for JAM3 Gene

Junctional adhesion molecule 3:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for JAM3 Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5a · 5b ^ 6 ^ 7a · 7b ^ 8 ^ 9a · 9b · 9c
SP1: - -
SP2: - - -
SP3: - - - - - - - -
SP4:
SP5:

Relevant External Links for JAM3 Gene

GeneLoc Exon Structure for
JAM3
ECgene alternative splicing isoforms for
JAM3

Expression for JAM3 Gene

mRNA expression in normal human tissues for JAM3 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for JAM3 Gene

This gene is overexpressed in Peripheral blood mononuclear cells (23.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for JAM3 Gene



SOURCE GeneReport for Unigene cluster for JAM3 Gene Hs.150718

mRNA Expression by UniProt/SwissProt for JAM3 Gene

Q9BX67-JAM3_HUMAN
Tissue specificity: Highest expression in placenta, brain and kidney. Significant expression is detected on platelets. Expressed in intestinal mucosa cells. Expressed in the vascular endothelium. Found in serum (at protein level). Also detected in the synovial fluid of patients with rheumatoid arthritis, psoriatic arthritis or ostearthritis (at protein level).
genes like me logo Genes that share expression patterns with JAM3: view

Primer Products

No data available for mRNA differential expression in normal tissues and Protein tissue co-expression partners for JAM3 Gene

Orthologs for JAM3 Gene

This gene was present in the common ancestor of chordates.

Orthologs for JAM3 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia JAM3 35
  • 83.86 (n)
  • 91.93 (a)
JAM3 36
  • 91 (a)
OneToOne
dog
(Canis familiaris)
Mammalia JAM3 35
  • 86.77 (n)
  • 90.32 (a)
JAM3 36
  • 90 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Jam3 35
  • 85.59 (n)
  • 86.45 (a)
Jam3 16
Jam3 36
  • 86 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia JAM3 35
  • 99.78 (n)
  • 100 (a)
JAM3 36
  • 87 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Jam3 35
  • 84.62 (n)
  • 85.48 (a)
oppossum
(Monodelphis domestica)
Mammalia JAM3 36
  • 85 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia JAM3 36
  • 68 (a)
OneToOne
chicken
(Gallus gallus)
Aves JAM3 35
  • 71 (n)
  • 72.67 (a)
JAM3 36
  • 71 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia JAM3 36
  • 61 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia jam3 35
  • 64.8 (n)
  • 67.48 (a)
African clawed frog
(Xenopus laevis)
Amphibia Xl.18489 35
zebrafish
(Danio rerio)
Actinopterygii -- 35
jam3b 35
  • 62.02 (n)
  • 58.93 (a)
jam3a 36
  • 43 (a)
OneToMany
jam3b 36
  • 50 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 26 (a)
OneToMany
Species with no ortholog for JAM3:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for JAM3 Gene

ENSEMBL:
Gene Tree for JAM3 (if available)
TreeFam:
Gene Tree for JAM3 (if available)

Paralogs for JAM3 Gene

Paralogs for JAM3 Gene

(2) SIMAP similar genes for JAM3 Gene using alignment to 3 proteins:

genes like me logo Genes that share paralogs with JAM3: view

Variants for JAM3 Gene

Sequence variations from dbSNP and Humsavar for JAM3 Gene

SNP ID Clin Chr 11 pos Sequence Context AA Info Type
VAR_069529 Hemorrhagic destruction of the brain with subependymal calcification and cataracts (HDBSCC)
VAR_069530 Hemorrhagic destruction of the brain with subependymal calcification and cataracts (HDBSCC)
rs532421 -- 134,143,212(+) ctacc(A/T)gcagt intron-variant
rs560925 -- 134,140,882(-) AACGG(C/T)CCTAG intron-variant
rs561958 -- 134,140,732(-) TTGGT(C/T)CATCT reference, missense

Structural Variations from Database of Genomic Variants (DGV) for JAM3 Gene

Variant ID Type Subtype PubMed ID
nsv898473 CNV Gain 21882294
dgv18n68 CNV Loss 17160897
esv2745312 CNV Deletion 23290073
esv1009143 CNV Insertion 20482838
esv21560 CNV Loss 19812545
esv2745313 CNV Deletion 23290073
esv2745314 CNV Deletion 23290073
esv2745315 CNV Deletion 23290073
nsv521581 CNV Gain 19592680
esv2660409 CNV Deletion 23128226
esv27389 CNV Gain 19812545
esv2745316 CNV Deletion 23290073
dgv178e201 CNV Deletion 23290073
esv2745318 CNV Deletion 23290073
esv1036645 CNV Insertion 17803354
dgv179e201 CNV Deletion 23290073
esv2742928 CNV Deletion 23290073
esv2740963 CNV Deletion 23290073
esv2745321 CNV Deletion 23290073

Variation tolerance for JAM3 Gene

Residual Variation Intolerance Score: 45.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.25; 40.37% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for JAM3 Gene

Human Gene Mutation Database (HGMD)
JAM3

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for JAM3 Gene

Disorders for JAM3 Gene

MalaCards: The human disease database

(3) MalaCards diseases for JAM3 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, and DISEASES

- elite association - COSMIC cancer census association via MalaCards
Search JAM3 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

JAM3_HUMAN
  • Hemorrhagic destruction of the brain with subependymal calcification and cataracts (HDBSCC) [MIM:613730]: A syndrome characterized by congenital cataracts and severe brain abnormalities apparently resulting from hemorrhagic destruction of the brain parenchyma, including the cerebral white matter and basal ganglia. Patients manifest profound developmental delay, and other neurologic features included seizures, spasticity, and hyperreflexia. The clinical course is very severe resulting in death in infancy. Brain imaging shows multifocal intraparenchymal hemorrhage with associated liquefaction and massive cystic degeneration, and calcification in the subependymal region and in brain tissue. {ECO:0000269 PubMed:21109224, ECO:0000269 PubMed:23255084}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for JAM3

Genetic Association Database (GAD)
JAM3
Human Genome Epidemiology (HuGE) Navigator
JAM3
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
JAM3
genes like me logo Genes that share disorders with JAM3: view

No data available for Genatlas for JAM3 Gene

Publications for JAM3 Gene

  1. Cloning of human junctional adhesion molecule 3 (JAM3) and its identification as the JAM2 counter-receptor. (PMID: 11590146) Arrate M.P. … Cunningham S.A. (J. Biol. Chem. 2001) 3 4 23 67
  2. Transcriptional induction of junctional adhesion molecule-C gene expression in activated T cells. (PMID: 19204148) Immenschuh S. … Santoso S. (J. Leukoc. Biol. 2009) 3 23
  3. Expression of junctional adhesion molecules on the human lymphatic endothelium. (PMID: 17822725) Ueki T. … Sawa Y. (Microvasc. Res. 2008) 3 23
  4. Expression and function of junctional adhesion molecule-C in myelinated peripheral nerves. (PMID: 18048693) Scheiermann C. … Nourshargh S. (Science 2007) 3 23
  5. Antibody against junctional adhesion molecule-C inhibits angiogenesis and tumor growth. (PMID: 15994945) Lamagna C. … Aurrand-Lions M. (Cancer Res. 2005) 3 23

Products for JAM3 Gene

Sources for JAM3 Gene

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