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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

JAM3 Gene

protein-coding   GIFtS: 67
GCID: GC11P133972

Junctional Adhesion Molecule 3

  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
Junctional Adhesion Molecule 31 2 3
JAM-22 3
JAM-32 3
JAM-C2 3
JAMC2
Junctional Adhesion Molecule C2

External Ids:    HGNC: 155321   Entrez Gene: 837002   Ensembl: ENSG000001660867   OMIM: 6068715   UniProtKB: Q9BX673   

Export aliases for JAM3 gene to outside databases

Previous GC identifers: GC11P136435 GC11P135453 GC11P133476 GC11P133444 GC11P129893


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

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 torch syndrome, and among its related super-pathways are Sertoli-Sertoli Cell Junction Dynamics and Signaling by GPCR. GO annotations related to this gene include integrin binding and protein homodimerization activity. An important paralog of this gene is F11R.

UniProtKB/Swiss-Prot: JAM3_HUMAN, Q9BX67
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 Wiki entry for JAM3 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000011.9  NC_018922.2  NT_033899.8  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the JAM3 gene promoter:
         COUP-TF1   AP-1   COUP   HNF-4alpha2   HNF-4alpha1   SRY   POU2F1   COUP-TF   HOXA5   ARP-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidJAM3 promoter sequence
   Search SABiosciences Chromatin IP Primers for JAM3

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat JAM3


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 11q25   Ensembl cytogenetic band:  11q25   HGNC cytogenetic band: 11q25

JAM3 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
JAM3 gene location

GeneLoc information about chromosome 11         GeneLoc Exon Structure

GeneLoc location for GC11P133972:  view genomic region     (about GC identifiers)

Start:
133,938,820 bp from pter      End:
134,021,896 bp from pter
Size:
83,077 bases      Orientation:
plus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: JAM3_HUMAN, Q9BX67 (See protein sequence)
Recommended Name: Junctional adhesion molecule C precursor  
Size: 310 amino acids; 35020 Da
Subunit: Interacts with JAM2. Interacts with ITGAM
Subcellular location: Cell membrane; Single-pass type I membrane protein (Potential). Cell junction, desmosome.
Secreted, extracellular space. Note=In epithelial cells, it is expressed at desmosomes but not at tight
junctions. 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
Sequence caution: Sequence=CAC94776.1; Type=Erroneous initiation;
Secondary accessions: B3KWG9 Q8WWL8 Q96FL1
Alternative splicing: 2 isoforms:  Q9BX67-1   Q9BX67-2   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for JAM3: NX_Q9BX67

Explore proteomics data for JAM3 at MOPED 

Post-translational modifications:

  • UniProtKB: Proteolytically cleaved from endothelial cells surface into a soluble form by ADAM10 and ADAM17; the release of
    soluble JAM3 is increased by proinflammatory factors
  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q9BX67

  • JAM3 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    JAM3 Protein Expression
    REFSEQ proteins (2 alternative transcripts): 
    NP_001192258.1  NP_116190.3  

    ENSEMBL proteins: 
     ENSP00000299106   ENSP00000432455   ENSP00000433206   ENSP00000395742   ENSP00000431883  
    Reactome Protein details: Q9BX67
    Human Recombinant Protein Products for JAM3: 
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    Novus Biologicals JAM3 Proteins
    Novus Biologicals JAM3 Lysates
    Sino Biological Recombinant Protein for JAM3
    Sino Biological Cell Lysate for JAM3 
    ProSpec Recombinant Protein for JAM3
    Cloud-Clone Corp. Proteins for JAM3 

    Gene Ontology (GO): 5/9 cellular component terms (GO ID links to tree view) (see all 9):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005615extracellular space IDA--
    GO:0005886plasma membrane TAS--
    GO:0005911cell-cell junction ----
    GO:0005923tight junction IEA--
    GO:0016021integral to membrane IEA--

    JAM3 for ontologies           About GeneDecksing



    JAM3 Antibody Products: 
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    Cloud-Clone Corp. CLIAs for JAM3


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    HGNC Gene Families: 
    IGD: Immunoglobulin superfamily / Immunoglobulin-like domain containing
    VSET: Immunoglobulin superfamily / V-set domain containing

    5 InterPro protein domains:
     IPR003598 Ig_sub2
     IPR013783 Ig-like_fold
     IPR013106 Ig_V-set
     IPR007110 Ig-like_dom
     IPR003599 Ig_sub

    Graphical View of Domain Structure for InterPro Entry Q9BX67

    ProtoNet protein and cluster: Q9BX67

    2 Blocks protein domains:
    IPB003598 Immunoglobulin C-2 type
    IPB013106 Immunoglobulin V-set


    UniProtKB/Swiss-Prot: JAM3_HUMAN, Q9BX67
    Similarity: Belongs to the immunoglobulin superfamily
    Similarity: Contains 1 Ig-like C2-type (immunoglobulin-like) domain
    Similarity: Contains 1 Ig-like V-type (immunoglobulin-like) domain


    JAM3 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: JAM3_HUMAN, Q9BX67
    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): 4 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005178integrin binding IPI15194813
    GO:0005515protein binding IPI--
    GO:0042803protein homodimerization activity IEA--
    GO:0046982protein heterodimerization activity IEA--
         
    JAM3 for ontologies           About GeneDecksing


    Phenotypes:
         15/16 MGI mutant phenotypes (inferred from 3 alleles(MGI details for Jam3) (see all 16):
     behavior/neurological  cardiovascular system  cellular  craniofacial  digestive/alimentary 
     endocrine/exocrine gland  growth/size  hematopoietic system  immune system  integument 
     mortality/aging  nervous system  reproductive system  respiratory system  skeleton 

    JAM3 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Jam3tm1.2Chav for JAM3

       inGenious Targeting Laboratory - Custom generated mouse model solutions for JAM3 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for JAM3

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    SwitchGear 3'UTR luciferase reporter plasmidJAM3 3' UTR sequence
    Inhib. RNA
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for JAM3


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for JAM3 About   (see all 12)                                                                                              See pathways by source

    SuperPathContained pathways About
    1Sertoli-Sertoli Cell Junction Dynamics
    Sertoli-Sertoli Cell Junction Dynamics0.38
    Epithelial Tight Junctions0.36
    2Signaling by GPCR
    Signal Transduction0.55
    3Platelet activation, signaling and aggregation
    Hemostasis0.43
    4Integrin Pathway
    Transendothelial Migration of Leukocytes0.38
    5Insulin receptor recycling
    Epithelial cell signaling in Helicobacter pylori infection0.33

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 EMD Millipore Pathway for JAM3
        Cell adhesion Tight junctions

    3 Downloadable PowerPoint Slides of QIAGEN Pathway Central Maps for JAM3
        Sertoli-Sertoli Cell Junction Dynamics
    Epithelial Tight Junctions
    Transendothelial Migration of Leukocytes

    1 GeneGo (Thomson Reuters) Pathway for JAM3
        Cell adhesion Tight junctions

    1 BioSystems Pathway for JAM3
        amb2 Integrin signaling


    4        Reactome Pathways for JAM3
        Hemostasis
    Integrin cell surface interactions
    Signal Transduction
    Cell surface interactions at the vascular wall


    4         Kegg Pathways  (Kegg details for JAM3):
        Cell adhesion molecules (CAMs)
    Tight junction
    Leukocyte transendothelial migration
    Epithelial cell signaling in Helicobacter pylori infection


    JAM3 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for JAM3

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    5/26 Interacting proteins for JAM3 (Q9BX671, 2, 3 ENSP000002991064) via UniProtKB, MINT, STRING, and/or I2D (see all 26)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    PARD3Q8TEW02, 3, ENSP000003639214MINT-4085406 I2D: score=2 STRING: ENSP00000363921
    ITGAXP207023, ENSP000002682964I2D: score=1 STRING: ENSP00000268296
    TJP1Q071573, ENSP000002815374I2D: score=1 STRING: ENSP00000281537
    PICK1Q9NRD53, ENSP000003494654I2D: score=1 STRING: ENSP00000349465
    ITGAMP112153, ENSP000002874974I2D: score=2 STRING: ENSP00000287497
    About this table

    Gene Ontology (GO): 5/17 biological process terms (GO ID links to tree view) (see all 17):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001525angiogenesis IDA--
    GO:0001780neutrophil homeostasis IEA--
    GO:0002250adaptive immune response IEA--
    GO:0002318myeloid progenitor cell differentiation IEA--
    GO:0002523leukocyte migration involved in inflammatory response IEA--

    JAM3 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for JAM3

    Search CenterWatch for drugs/clinical trials and news about JAM3

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for JAM3 gene (2 alternative transcripts): 
    NM_001205329.1  NM_032801.4  

    Unigene Cluster for JAM3:

    Junctional adhesion molecule 3
    Hs.150718  [show with all ESTs]
    Unigene Representative Sequence: NM_032801
    9 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000299106(uc001qhb.2 uc009zcz.2) ENST00000532252 ENST00000534549
    ENST00000441717 ENST00000531302 ENST00000524969 ENST00000532165 ENST00000533711
    ENST00000529443
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    hsa-miR-485-5p hsa-miR-3152-3p hsa-miR-502-5p hsa-miR-202 hsa-let-7a-2* hsa-miR-624* hsa-miR-548s hsa-miR-340
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    Inhib. RNA
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      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat JAM3

    Additional mRNA sequence: 

    AF356518.1 AF448478.1 AJ344431.1 AJ416101.1 AK027435.1 AK074769.1 AK075309.1 AK125071.1 
    AK225666.1 AY358335.1 BC010690.1 BC012147.1 BC057284.1 BC063031.1 

    18 DOTS entries:

    DT.442715  DT.100025623  DT.97799659  DT.95191672  DT.97769862  DT.120684377  DT.101983753  DT.100020795 
    DT.70105331  DT.100852217  DT.120684383  DT.100684258  DT.100864300  DT.120684251  DT.120684342  DT.92044977 
    DT.95191809  DT.95375209 

    24/220 AceView cDNA sequences (see all 220):

    AI146486 BM720887 BE464631 T32676 AJ416101 BQ694431 BI063445 BM451147 
    CR612469 CD516043 AA149513 AI089282 AA635131 AF448478 AW262622 AI801697 
    AI282048 CR624885 AW026671 BQ026358 AW005213 BQ439580 CD515638 CA420406 

    GeneLoc Exon Structure

    5 Alternative Splicing Database (ASD) splice patterns (SP) for JAM3    About this scheme

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


    ECgene alternative splicing isoforms for JAM3

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    JAM3 expression in normal human tissues (normalized intensities)      JAM3 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    JAM3 Expression
    About this image


    JAM3 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/3 selected tissues (see all 3) fully expand
     
     Brain (Nervous System)    fully expand to see all 19 entries
             Mature Choroid Plexus Cells Choroid Plexus
             Thalamus
             Substantia Nigra   
     
     Spinal Cord (Nervous System)    fully expand to see all 2 entries
             Dorsal Horn   
     
     Choroid Plexus (Nervous System)
             Mature Choroid Plexus Cells Choroid Plexus

    See JAM3 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for JAM3

    SOURCE GeneReport for Unigene cluster: Hs.150718

    UniProtKB/Swiss-Prot: JAM3_HUMAN, Q9BX67
    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)

        SABiosciences Expression via Pathway-Focused PCR Arrays including JAM3: 
              Tight Junctions in human mouse rat
              Cell Junction PathwayFinder in human mouse rat

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    In Situ
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for JAM3

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of chordates.

    Orthologs for JAM3 gene from 5/12 species (see all 12)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Jam31 , 5 junction adhesion molecule 31, 5 85.59(n)1
    86.45(a)1
      9 (12.27 cM)5
    839641  NM_023277.41  NP_075766.11 
     271006685 
    chicken
    (Gallus gallus)
    Aves JAM31 junctional adhesion molecule 3 70.65(n)
    72.35(a)
      419736  XM_417876.3  XP_417876.3 
    lizard
    (Anolis carolinensis)
    Reptilia JAM36
    Uncharacterized protein
    62(a)
    1 ↔ 1
    GL343396.1(889763-902029)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.184892 Xenopus laevis transcribed sequences 81.22(n)    BI347911.1 
    zebrafish
    (Danio rerio)
    Actinopterygii 570652642   -- 72.97(n)   321348  57065264 


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for JAM3 gene
    F11R2  JAM22  
    2 SIMAP similar genes for JAM3 using alignment to 3 protein entries:     JAM3_HUMAN (see all proteins):
    JAM2    F11R

    JAM3 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/2245 SNPs in JAM3 are shown (see all 2245)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 11 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0695304
    Hemorrhagic destruction of the brain with subependymal calcification and cataracts (HDBSCC)4--see VAR_0695302 C Y mis40--------
    VAR_0695294
    Hemorrhagic destruction of the brain with subependymal calcification and cataracts (HDBSCC)4--see VAR_0695292 E K mis40--------
    rs20025271,2
    C,F--129891259(-) aaataC/Gaaaaa 2 -- us2k12Minor allele frequency- G:0.25NA CSA 4
    rs1871361781,2
    --129891365(+) TAGGCA/GTGAGC 2 -- us2k10--------
    rs1123819401,2
    C,F--129891437(+) TTTAAG/AAAGTG 2 -- us2k11Minor allele frequency- A:0.50NA 2
    rs11073681,2
    C,F--129891452(-) TACTAA/GGGAGA 2 -- us2k19Minor allele frequency- G:0.47NA WA CSA EA 369
    rs1911745681,2
    --129891637(+) CAGACA/CACTTC 2 -- us2k10--------
    rs1464363891,2
    --129891729(+) ACATGA/CCGACT 2 -- us2k10--------
    rs1397566801,2
    --129891732(+) TGCCGA/TCTCCA 2 -- us2k10--------
    rs1830831691,2
    --129891779(+) CTGCCA/TTCCAC 2 -- us2k10--------

    HapMap Linkage Disequilibrium report for JAM3 (133938820 - 134021896 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 10/19 variations for JAM3 (see all 19):    About this table     
    Variant IDTypeSubtypePubMed ID
    esv2742928CNV Deletion23290073
    esv2745313CNV Deletion23290073
    esv2745315CNV Deletion23290073
    esv2660409CNV Deletion23128226
    esv2745321CNV Deletion23290073
    esv2740963CNV Deletion23290073
    esv2745318CNV Deletion23290073
    dgv178e201CNV Deletion23290073
    esv2745312CNV Deletion23290073
    esv2745316CNV Deletion23290073


    Human Gene Mutation Database (HGMD): JAM3
    SABiosciences Cancer Mutation PCR Assays
    SeqTarget long-range PCR primers for resequencing JAM3
    DNA2.0 Custom Variant and Variant Library Synthesis for JAM3

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 606871   
    OMIM disorders: 613730  
    UniProtKB/Swiss-Prot: JAM3_HUMAN, Q9BX67
  • 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. Note=The disease is caused by mutations affecting the gene
    represented in this entry

  • 13 diseases for JAM3:    About MalaCards
    hemorrhagic destruction of the brain, subependymal calcification, and cataracts    torch syndrome    aicardi-goutieres syndrome    cataract
    psoriatic arthritis    endotheliitis    fibrosarcoma    spasticity
    arthritis    cerebritis    rheumatoid arthritis    retinitis
    melanoma

    1 disease from the University of Copenhagen DISEASES database for JAM3:
    pseudo-TORCH syndrome

    JAM3 for disorders           About GeneDecksing

    Genetic Association Database (GAD): JAM3
    Human Genome Epidemiology (HuGE) Navigator: JAM3 (4 documents)

    Export disorders for JAM3 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for JAM3 gene, integrated from 9 sources (see all 55):
    (articles sorted by number of sources associating them with JAM3)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Cloning of human junctional adhesion molecule 3 (JAM3) and its identification as the JAM2 counter-receptor. (PubMed id 11590146)1, 2, 9 Arrate M.P.... Cunningham S.A. (2001)
    2. JAM-C is a component of desmosomes and a ligand for CD11b/CD18-mediated neutrophil transepithelial migration. (PubMed id 15194813)1, 2, 9 Zen K....Parkos C.A. (2004)
    3. Antibody against junctional adhesion molecule-C inhibits angiogenesis and tumor growth. (PubMed id 15994945)1, 2, 9 Lamagna C....Aurrand-Lions M. (2005)
    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. (PubMed id 23255084)1, 2 Akawi N.A....Al-Gazali L. (2013)
    5. Junctional adhesion molecule-C is a soluble mediator of angiogenesis. (PubMed id 20592283)1, 2 Rabquer B.J....Koch A.E. (2010)
    6. A homozygous mutation in the tight-junction protein J AM3 causes hemorrhagic destruction of the brain, subependymal calcification, an d congenital cataracts. (PubMed id 21109224)1, 2 Mochida G.H....Walsh C.A. (2010)
    7. Variation at the NFATC2 locus increases the risk of t hiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipr il and rosiglitazone Medication (DREAM) study. (PubMed id 20628086)1, 4 Bailey S.D....Anand S. (2010)
    8. Findings from bipolar disorder genome-wide association studies replicate in a Finnish bipolar family-cohort. (PubMed id 19308021)1, 4 Ollila H.M....Paunio T. (2009)
    9. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    10. Signal peptide prediction based on analysis of experimentally verified cleavage sites. (PubMed id 15340161)1, 2 Zhang Z. and Henzel W.J. (2004)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
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      Query String
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      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 83700 HGNC: 15532 AceView: JAM3 Ensembl:ENSG00000166086 euGenes: HUgn83700
    ECgene: JAM3 Kegg: 83700 H-InvDB: JAM3

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for JAM3 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for JAM3 gene:
    Search GeneIP for patents involving JAM3

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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    About This Section

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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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