JAM2 (junctional adhesion molecule 2)

Gene Gene information from NCBI Gene database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID 58494
Gene name Junctional adhesion molecule 2
Gene symbol JAM2
Synonyms (NCBI Gene)
C21orf43CD322IBGC8JAM-BJAMBPRO245VE-JAMVEJAM
Chromosome 21
Chromosome location 21q21.3
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 act
SNPs SNP information provided by dbSNP.
7
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (7)
SNP ID Visualize variation Clinical significance Consequence
rs751103286 ->G Pathogenic Splice acceptor variant
rs781261918 C>T Pathogenic Stop gained, coding sequence variant, non coding transcript variant
rs1230941179 G>A,C Pathogenic Stop gained, non coding transcript variant, coding sequence variant, missense variant
rs1383641309 G>A Pathogenic Missense variant, non coding transcript variant, coding sequence variant
rs1600978441 A>G Pathogenic Non coding transcript variant, initiator codon variant, missense variant, intron variant
miRNA miRNA information provided by mirtarbase database.
28
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (28)
miRTarBase ID miRNA Experiments Reference
MIRT029914 hsa-miR-26b-5p Microarray 19088304
MIRT680675 hsa-miR-6087 HITS-CLIP 23706177
MIRT680674 hsa-miR-377-5p HITS-CLIP 23706177
MIRT680673 hsa-miR-6086 HITS-CLIP 23706177
MIRT680672 hsa-miR-6499-3p HITS-CLIP 23706177
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
35
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (35)
GO ID Ontology Definition Evidence Reference
GO:0005178 Function Integrin binding IDA 12070135
GO:0005515 Function Protein binding IPI 11590146, 11823489, 21982860
GO:0005886 Component Plasma membrane IBA
GO:0005886 Component Plasma membrane IDA 11590146
GO:0005886 Component Plasma membrane IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
606870 14686 ENSG00000154721
Protein Protein information from UniProt database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P57087
Protein name Junctional adhesion molecule B (JAM-B) (Junctional adhesion molecule 2) (JAM-2) (Vascular endothelial junction-associated molecule) (VE-JAM) (CD antigen CD322)
Protein function Junctional adhesion protein that mediates heterotypic cell-cell interactions with its cognate receptor JAM3 to regulate different cellular processes (PubMed:11590146, PubMed:11823489, PubMed:24357068). Plays a role in homing and mobilization of
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF07686 V-set 33 → 131 Immunoglobulin V-set domain Domain
PF13927 Ig_3 134 → 218 Domain
Tissue specificity TISSUE SPECIFICITY: Highly expressed in heart, placenta, lung, foreskin and lymph node (PubMed:10779521, PubMed:10945976). Prominently expressed on high endothelial venules and also present on the endothelia of other vessels (at protein level) (PubMed:107
Sequence
Sequence length 298
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
  KEGG  Reactome
  Cell adhesion molecules
Tight junction
Leukocyte transendothelial migration
Epithelial cell signaling in Helicobacter pylori infection 		  Cell surface interactions at the vascular wall
Integrin cell surface interactions
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
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Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (2)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Basal ganglia calcification, idiopathic, 8, autosomal recessive Pathogenic rs1601038626, rs1600978441, rs1230941179, rs1383641309, rs781261918, rs751103286, rs1601038704 RCV001029454
RCV001029456
RCV001029458
RCV001029462
RCV001029464
RCV001029466
RCV001029468
JAM2-related disorder Pathogenic rs781261918 RCV003396619
Show/Hide Unknown Diseases (5)
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Acute myeloid leukemia Benign rs56256482 RCV005915593
Cervical cancer Benign rs56256482 RCV005915594
Sarcoma Benign rs56256482 RCV005915595
Thymoma Benign rs56256482 RCV005915597
Show/Hide Text Mining Associations (21)
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Adenocarcinoma of Lung Associate 27610375
Adenocarcinoma of Lung Inhibit 39838844
Alzheimer Disease Associate 25649652
Arrhythmogenic Right Ventricular Dysplasia Stimulate 31843279
Asthma Associate 31952466, 38375886
Breast Neoplasms Associate 39270542
Calcinosis Associate 36862146
Carcinoma Hepatocellular Associate 36038676
Colorectal Neoplasms Associate 25997610, 26782073
Down Syndrome Associate 38095646