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    JAM3 junctional adhesion molecule 3 [ Homo sapiens (human) ]

    Gene ID: 83700, updated on 30-Jun-2024

    Summary

    Official Symbol
    JAM3provided by HGNC
    Official Full Name
    junctional adhesion molecule 3provided by HGNC
    Primary source
    HGNC:HGNC:15532
    See related
    Ensembl:ENSG00000166086 MIM:606871; AllianceGenome:HGNC:15532
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    JAMC; JAM-2; JAM-3; JAM-C
    Summary
    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]
    Expression
    Broad expression in placenta (RPKM 57.0), testis (RPKM 33.0) and 22 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See JAM3 in Genome Data Viewer
    Location:
    11q25
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (134069072..134152001)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (134112013..134194140)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (133938967..134021896)

    Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene long intergenic non-protein coding RNA 2730 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:133890717-133891220 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:133894031-133894833 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr11:133896267-133896838 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr11:133896839-133897409 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:133901031-133901530 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:133902231-133902958 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:133902959-133903686 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:133906753-133907724 Neighboring gene long intergenic non-protein coding RNA 2731 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:133915510-133916010 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr11:133916360-133917559 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:133923324-133924176 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4092 Neighboring gene uncharacterized LOC124902797 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:133994434-133994972 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:133994973-133995509 Neighboring gene PTP4A2 pseudogene 2 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:134027645-134028146 Neighboring gene small nucleolar RNA, C/D box 153 Neighboring gene non-SMC condensin II complex subunit D3 Neighboring gene zinc finger protein 628 pseudogene Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr11:134045931-134047130 Neighboring gene MPRA-validated peak1520 silencer Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4093 Neighboring gene MPRA-validated peak1521 silencer Neighboring gene MPRA-validated peak1522 silencer Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5768 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4094 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5769 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5770 Neighboring gene VPS26 retromer complex component B

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    HIV-1 interactions

    Replication interactions

    Interaction Pubs
    HIV-1 infection (VSV-G pseudotyped) of CEMT4 T cells downregulates plasma membrane expression of JAM3 PubMed

    Go to the HIV-1, Human Interaction Database

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • FLJ14529

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables cell-cell adhesion mediator activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables cell-cell adhesion mediator activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables integrin binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables integrin binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein heterodimerization activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables protein homodimerization activity IEA
    Inferred from Electronic Annotation
    more info
     
    Process Evidence Code Pubs
    involved_in adaptive immune response IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in adherens junction assembly IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in angiogenesis IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in apical protein localization IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in cell migration IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in cell-cell adhesion IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in cell-cell adhesion IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in cell-cell adhesion IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in cell-matrix adhesion IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in establishment of cell polarity IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in granulocyte migration IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in hematopoietic stem cell migration to bone marrow IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in heterotypic cell-cell adhesion IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in leukocyte migration involved in inflammatory response IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in maintenance of blood-brain barrier NAS
    Non-traceable Author Statement
    more info
    PubMed 
    involved_in myelination IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in myeloid progenitor cell differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in negative regulation of cell adhesion mediated by integrin IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in negative regulation of integrin activation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in neutrophil homeostasis IEA
    Inferred from Electronic Annotation
    more info
     
    acts_upstream_of_or_within positive regulation of membrane permeability IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within positive regulation of monocyte extravasation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in protein localization to cell junction IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in protein localization to cell surface IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in regulation of actin cytoskeleton organization by cell-cell adhesion IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in regulation of neutrophil chemotaxis IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in spermatid development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in transmission of nerve impulse IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    located_in Golgi apparatus IDA
    Inferred from Direct Assay
    more info
     
    located_in Schmidt-Lanterman incisure IEA
    Inferred from Electronic Annotation
    more info
     
    colocalizes_with bicellular tight junction IDA
    Inferred from Direct Assay
    more info
    PubMed 
    is_active_in cell-cell contact zone IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in cell-cell contact zone IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in cell-cell junction IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    located_in desmosome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in extracellular space IDA
    Inferred from Direct Assay
    more info
    PubMed 
    part_of filamentous actin IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in microvillus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in paranodal junction IEA
    Inferred from Electronic Annotation
    more info
     
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in plasma membrane TAS
    Traceable Author Statement
    more info
     
    part_of protein complex involved in cell adhesion IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    part_of protein complex involved in cell adhesion IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in tight junction IDA
    Inferred from Direct Assay
    more info
    PubMed 

    General protein information

    Preferred Names
    junctional adhesion molecule C

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_028348.1 RefSeqGene

      Range
      5148..88077
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001205329.2NP_001192258.1  junctional adhesion molecule C isoform 2 precursor

      See identical proteins and their annotated locations for NP_001192258.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks an alternate in-frame exon compared to variant 1. The resulting protein (isoform 2) is shorter compared to isoform 1.
      Source sequence(s)
      AK125071, AP001775
      Consensus CDS
      CCDS55799.1
      UniProtKB/Swiss-Prot
      Q9BX67
      Related
      ENSP00000395742.3, ENST00000441717.3
      Conserved Domains (1) summary
      pfam13927
      Location:83172
      Ig_3; Immunoglobulin domain
    2. NM_032801.5NP_116190.3  junctional adhesion molecule C isoform 1 precursor

      See identical proteins and their annotated locations for NP_116190.3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer protein (isoform 1).
      Source sequence(s)
      AJ416101, AP001775
      Consensus CDS
      CCDS8494.2
      UniProtKB/Swiss-Prot
      B3KWG9, Q8WWL8, Q96FL1, Q9BX67
      Related
      ENSP00000299106.4, ENST00000299106.9
      Conserved Domains (2) summary
      smart00409
      Location:42135
      IG; Immunoglobulin
      cd00096
      Location:156231
      Ig; Immunoglobulin domain

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000011.10 Reference GRCh38.p14 Primary Assembly

      Range
      134069072..134152001
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060935.1 Alternate T2T-CHM13v2.0

      Range
      134112013..134194140
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)