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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
  • Junctional Adhesion Molecule C 3
  • 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 Band-Like Calcification With Simplified Gyration And Polymicrogyria. Among its related pathways are Cell surface interactions at the vascular wall and Blood-Brain Barrier and Immune Cell Transmigration: VCAM-1/CD106 Signaling Pathways. 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 Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH11F134139 1.4 Ensembl ENCODE 25 +71.0 71007 1.2 CTCF ZNF654 SMC3 REST PRDM1 RAD21 TEAD3 JAM3 NCAPD3 LOC100533644 ENSG00000255348 VPS26B IGSF9B GLB1L3 THYN1 PIR32251 GC11P134146
GH11F134045 0.5 ENCODE 20.5 -22.7 -22740 0.7 CTCF GATA3 SMC3 REST ZBTB40 PRDM1 RAD21 JAM3 IGSF9B NCAPD3 GLB1L3 LOC105369582
GH11F134124 0.2 ENCODE 16.1 +57.0 56993 2.7 RNF2 JUN BHLHE40 SIN3A RAD51 CBX8 JUND ZSCAN16 FOS MAFK JAM3 ACAD8 LOC100533644 ENSG00000255348 NCAPD3 PTP4A2P2 PIR32251
GH11F134068 1.3 Ensembl ENCODE 14.8 +3.2 3189 7.4 PKNOX1 KLF17 BMI1 ZNF2 SCRT2 ZNF391 EGR2 ZBTB2 REST ZNF623 NCAPD3 JAM3 ACAD8 IGSF9B LOC100533644 ENSG00000255348 VPS26B THYN1 GC11P134081
GH11F134118 1.4 FANTOM5 Ensembl ENCODE 14.3 +51.7 51667 4.7 PKNOX1 POLR2A JUN BHLHE40 NFE2 FOS NFE2L2 NCAPD3 JAM3 LOC100533644 ENSG00000255348 IGSF9B GLB1L3 THYN1 GC11M134124 LOC102725195
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

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
ENSR00000571825 776 2200 KLF17 BMI1 ZNF2 ZNF391 ZBTB2 REST ZNF623 SREBF1 RFX3 ZNF341

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

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

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.

Gene Ontology (GO) - Molecular Function for JAM3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005178 integrin binding IPI 15194813
GO:0005515 protein binding IPI 21982860
GO:0042803 protein homodimerization activity IEA --
GO:0046982 protein heterodimerization activity IEA --
genes like me logo Genes that share ontologies with JAM3: view
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

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , 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:0005576 extracellular region IEA --
GO:0005615 extracellular space IEA,IDA 20592283
GO:0005794 Golgi apparatus IDA --
GO:0005886 plasma membrane TAS --
GO:0005911 cell-cell 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:0001780 neutrophil homeostasis IEA --
GO:0002250 adaptive immune response IEA --
GO:0002318 myeloid progenitor cell differentiation IEA --
GO:0002523 leukocyte migration involved in inflammatory response IEA --
genes like me logo Genes that share ontologies with JAM3: view

No data available for SIGNOR curated interactions for JAM3 Gene

Transcripts for JAM3 Gene

Unigene Clusters for JAM3 Gene

Junctional adhesion molecule 3:
Representative Sequences:

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

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 from GTEx, Illumina, BioGPS, and SAGE 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, MaxQB, and MOPED for JAM3 Gene



NURSA nuclear receptor signaling pathways regulating expression of JAM3 Gene:

JAM3

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
chimpanzee
(Pan troglodytes)
Mammalia JAM3 34 35
  • 99.78 (n)
dog
(Canis familiaris)
Mammalia JAM3 34 35
  • 86.77 (n)
mouse
(Mus musculus)
Mammalia Jam3 34 16 35
  • 85.59 (n)
oppossum
(Monodelphis domestica)
Mammalia JAM3 35
  • 85 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Jam3 34
  • 84.62 (n)
cow
(Bos Taurus)
Mammalia JAM3 34 35
  • 83.86 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia JAM3 35
  • 68 (a)
OneToOne
chicken
(Gallus gallus)
Aves JAM3 34 35
  • 71 (n)
lizard
(Anolis carolinensis)
Reptilia JAM3 35
  • 61 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia jam3 34
  • 64.8 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.18489 34
zebrafish
(Danio rerio)
Actinopterygii jam3b 34 35
  • 62.02 (n)
jam3a 35
  • 43 (a)
OneToMany
-- 34
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 26 (a)
OneToMany
Species where no ortholog for JAM3 was found in the sources mined by GeneCards:
  • 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
rs397515438 Hemorrhagic destruction of the brain with subependymal calcification and cataracts (HDBSCC) [MIM:613730], Pathogenic 134,145,989(+) CTACT(A/G)CATTG reference, missense
rs397515439 Hemorrhagic destruction of the brain with subependymal calcification and cataracts (HDBSCC) [MIM:613730], Pathogenic 134,144,330(+) GCTGT(A/G)AGGTC intron-variant, reference, missense
rs397514678 Pathogenic 134,069,085(+) CGACA(C/G/T)GGCGC reference, missense
rs10458996 -- 134,105,695(+) cattc(C/T)tatat intron-variant
rs10643328 -- 134,110,725(+) GAAAC(-/CTT)CTGGG intron-variant

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

Variant ID Type Subtype PubMed ID
dgv159e201 CNV deletion 23290073
dgv160e201 CNV deletion 23290073
dgv18n68 CNV loss 17160897
esv1009143 CNV insertion 20482838
esv1036645 CNV insertion 17803354
esv21560 CNV loss 19812545
esv2660409 CNV deletion 23128226
esv27389 CNV gain 19812545
esv2740963 CNV deletion 23290073
esv2742928 CNV deletion 23290073
esv2745312 CNV deletion 23290073
esv2745313 CNV deletion 23290073
esv2745314 CNV deletion 23290073
esv2745315 CNV deletion 23290073
esv2745316 CNV deletion 23290073
esv2745318 CNV deletion 23290073
esv2745321 CNV deletion 23290073
esv3628161 CNV loss 21293372
esv3628162 CNV loss 21293372
esv3892114 CNV gain 25118596
nsv1144600 CNV deletion 24896259
nsv521581 CNV gain 19592680
nsv556597 CNV loss 21841781
nsv975245 CNV duplication 23825009

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
SNPedia medical, phenotypic, and genealogical associations of SNPs for
JAM3

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

Disorders for JAM3 Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
hemorrhagic destruction of the brain, subependymal calcification, and cataracts
  • hemorrhagic destruction of the brain, subependymal calcification and cataracts
band-like calcification with simplified gyration and polymicrogyria
  • pseudo-torch syndrome
- 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. Antibody against junctional adhesion molecule-C inhibits angiogenesis and tumor growth. (PMID: 15994945) Lamagna C. … Aurrand-Lions M. (Cancer Res. 2005) 3 4 22 64
  2. JAM-C is a component of desmosomes and a ligand for CD11b/CD18- mediated neutrophil transepithelial migration. (PMID: 15194813) Zen K. … Parkos C.A. (Mol. Biol. Cell 2004) 3 4 22 64
  3. 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 22 64
  4. 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. (PMID: 23255084) Akawi N.A. … Al-Gazali L. (Hum. Mutat. 2013) 3 4 64
  5. Junctional adhesion molecule-C is a soluble mediator of angiogenesis. (PMID: 20592283) Rabquer B.J. … Koch A.E. (J. Immunol. 2010) 3 4 64

Products for JAM3 Gene

Sources for JAM3 Gene

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