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    JAM2 junctional adhesion molecule 2 [ Homo sapiens (human) ]

    Gene ID: 58494, updated on 17-Sep-2024

    Summary

    Official Symbol
    JAM2provided by HGNC
    Official Full Name
    junctional adhesion molecule 2provided by HGNC
    Primary source
    HGNC:HGNC:14686
    See related
    Ensembl:ENSG00000154721 MIM:606870; AllianceGenome:HGNC:14686
    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
    JAMB; CD322; IBGC8; JAM-B; VEJAM; PRO245; VE-JAM; C21orf43
    Summary
    This gene belongs to the immunoglobulin superfamily, and the junctional adhesion molecule (JAM) family. The protein encoded by this gene is a type I membrane protein that is localized at the tight junctions of both epithelial and endothelial cells. It acts as an adhesive ligand for interacting with a variety of immune cell types, and may play a role in lymphocyte homing to secondary lymphoid organs. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jul 2012]
    Expression
    Broad expression in placenta (RPKM 25.9), brain (RPKM 13.2) and 20 other tissues See more
    Orthologs
    NEW
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    Genomic context

    See JAM2 in Genome Data Viewer
    Location:
    21q21.3
    Exon count:
    11
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 21 NC_000021.9 (25639258..25717562)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 21 NC_060945.1 (23996799..24075106)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 21 NC_000021.8 (27011570..27089874)

    Chromosome 21 - NC_000021.9Genomic Context describing neighboring genes Neighboring gene long intergenic non-protein coding RNA 515 Neighboring gene mitochondrial ribosomal protein L39 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18314 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13230 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18315 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13231 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr21:27012080-27012580 Neighboring gene uncharacterized LOC124905001 Neighboring gene RNA guanylyltransferase and 5'-phosphatase pseudogene 1 Neighboring gene ReSE screen-validated silencer GRCh37_chr21:27054065-27054224 Neighboring gene uncharacterized LOC124905002 Neighboring gene ferredoxin 1 pseudogene 2 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr21:27104507-27105344 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18317 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13232 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr21:27107035-27107690 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13233 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13234 Neighboring gene ATP synthase peripheral stalk subunit F6 Neighboring gene GA binding protein transcription factor subunit alpha Neighboring gene LLPH pseudogene 2

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues 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?

    Phenotypes

    Associated conditions

    Description Tests
    Basal ganglia calcification, idiopathic, 8, autosomal recessive
    MedGen: C5394199 OMIM: 618824 GeneReviews: Not available
    Compare labs

    EBI GWAS Catalog

    Description
    A genome-wide study of common SNPs and CNVs in cognitive performance in the CANTAB.
    EBI GWAS Catalog

    HIV-1 interactions

    Protein interactions

    Protein Gene Interaction Pubs
    Envelope surface glycoprotein gp120 env HIV-1 JRFL and HXB2 (gp120) downregulates JAM2 in ARPE-19 cells and is dependent upon MMP activation PubMed
    env The expression of tight junction proteins ZO-1, JAM-2, Occludin, Claudin-3 and Claudin-5 is modulated by HIV-1 gp120, and the modulated TJ expression involves Rho-A activation PubMed
    Tat tat HIV-1 Tat in combination with morphine can upregulate JAM-2 expression in primary brain micro vascular endothelial cells PubMed
    tat HIV-1 Tat B disrupts blood-brain barrier (BBB) integrity to a greater extent compared to HIV-1 Tat C. This BBB dysfunction is associated with modulated expression of tight junction proteins zona occuldens (ZO-1) and junctional adhesion molecule (JAM)-2 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

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables integrin binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in cell-cell adhesion IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in cell-cell adhesion NAS
    Non-traceable Author Statement
    more info
    PubMed 
    involved_in cellular extravasation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in hematopoietic stem cell migration to bone marrow IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in leukocyte cell-cell adhesion IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in leukocyte tethering or rolling IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in lymphocyte aggregation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in maintenance of blood-brain barrier NAS
    Non-traceable Author Statement
    more info
    PubMed 
    involved_in myoblast fusion ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in negative regulation of myelination ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in positive regulation of lymphocyte migration IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in spermatid development ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    Component Evidence Code Pubs
    located_in bicellular tight junction IEA
    Inferred from Electronic Annotation
    more info
     
    is_active_in cell surface IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in cell surface IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in cell-cell contact zone IDA
    Inferred from Direct Assay
    more info
    PubMed 
    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 IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    located_in plasma membrane NAS
    Non-traceable Author Statement
    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 somatodendritic compartment ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    is_active_in tight junction IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in tight junction ISS
    Inferred from Sequence or Structural Similarity
    more info
     

    General protein information

    Preferred Names
    junctional adhesion molecule B
    Names
    JAM-2
    JAM-IT/VE-JAM
    vascular endothelial junction-associated molecule

    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.

    mRNA and Protein(s)

    1. NM_001270407.2NP_001257336.1  junctional adhesion molecule B isoform 2 precursor

      See identical proteins and their annotated locations for NP_001257336.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks an in-frame coding exon compared to variant 1, which results in a shorter isoform (2) missing an internal protein segment compared to isoform 1.
      Source sequence(s)
      AI742752, AK056079, AK294769, AP000223, BG540412, BM921497, CX870550
      Consensus CDS
      CCDS58788.1
      UniProtKB/Swiss-Prot
      P57087
      Related
      ENSP00000318416.6, ENST00000312957.9
      Conserved Domains (2) summary
      smart00410
      Location:3594
      IG_like; Immunoglobulin like
      cd00096
      Location:115189
      Ig; Immunoglobulin domain
    2. NM_001270408.2NP_001257337.1  junctional adhesion molecule B isoform 3 precursor

      See identical proteins and their annotated locations for NP_001257337.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) contains an alternate 3' terminal exon compared to variant 1, which results in a frame-shift, and a longer isoform (3) with a distinct C-terminus compared to isoform 1.
      Source sequence(s)
      AP000223, AP000226, AY358361, BM921497
      Consensus CDS
      CCDS58787.1
      UniProtKB/TrEMBL
      H0YEX9
      Related
      ENSP00000383376.1, ENST00000400532.5
      Conserved Domains (2) summary
      smart00410
      Location:35130
      IG_like; Immunoglobulin like
      cd00096
      Location:151225
      Ig; Immunoglobulin domain
    3. NM_021219.4NP_067042.1  junctional adhesion molecule B isoform 1 precursor

      See identical proteins and their annotated locations for NP_067042.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the predominant transcript, and encodes isoform 1.
      Source sequence(s)
      AI742752, AK056079, AK294769, AP000223, AY077698, BG540412, BM921497, CX870550
      Consensus CDS
      CCDS42911.1
      UniProtKB/Swiss-Prot
      B2R6T9, B4DGT9, P57087, Q6UXG6, Q6YNC1
      Related
      ENSP00000420419.1, ENST00000480456.6
      Conserved Domains (3) summary
      cd00096
      Location:137141
      Ig; Ig strand A [structural motif]
      cd20946
      Location:30131
      IgV_1_JAM1-like; First Ig-like domain of Junctional adhesion molecule-1 (JAM1)and similar domains; a member of the V-set of IgSF domains
      cl11960
      Location:137232
      Ig; Immunoglobulin domain

    RNA

    1. NR_072999.2 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) uses an alternate donor splice site at an internal exon compared to variant 1. It is represented as non-coding because the use of the 5'-most translational start codon (with a strong Kozak signal), as used in variant 1, renders this transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AI742752, AK056079, AK294769, AP000223, AX772824, BG540412, BM921497, CX870550

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000021.9 Reference GRCh38.p14 Primary Assembly

      Range
      25639258..25717562
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060945.1 Alternate T2T-CHM13v2.0

      Range
      23996799..24075106
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)