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

Gene ID: 58494, updated on 2-Nov-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
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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)

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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)