Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

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

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
rs1601038626	T>-	Pathogenic	Non coding transcript variant, coding sequence variant, 5 prime UTR variant, stop gained, intron variant
rs1601038704	CAGA>-	Pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant, 5 prime UTR variant, intron variant

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
MIRT680671	hsa-miR-658	HITS-CLIP	23706177
MIRT680670	hsa-miR-25-5p	HITS-CLIP	23706177
MIRT680669	hsa-miR-6825-5p	HITS-CLIP	23706177
MIRT680668	hsa-miR-6807-5p	HITS-CLIP	23706177
MIRT680667	hsa-miR-455-3p	HITS-CLIP	23706177
MIRT680666	hsa-miR-6516-5p	HITS-CLIP	23706177
MIRT680665	hsa-miR-4459	HITS-CLIP	23706177
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
MIRT680671	hsa-miR-658	HITS-CLIP	23706177
MIRT680670	hsa-miR-25-5p	HITS-CLIP	23706177
MIRT680669	hsa-miR-6825-5p	HITS-CLIP	23706177
MIRT680668	hsa-miR-6807-5p	HITS-CLIP	23706177
MIRT680667	hsa-miR-455-3p	HITS-CLIP	23706177
MIRT680666	hsa-miR-6516-5p	HITS-CLIP	23706177
MIRT680665	hsa-miR-4459	HITS-CLIP	23706177
MIRT1076338	hsa-miR-3119	CLIP-seq
MIRT1076339	hsa-miR-3675-3p	CLIP-seq
MIRT1076340	hsa-miR-4509	CLIP-seq
MIRT1076341	hsa-miR-4744	CLIP-seq
MIRT1076342	hsa-miR-9	CLIP-seq

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
GO:0005886	Component	Plasma membrane	IMP	31851307
GO:0005886	Component	Plasma membrane	NAS	10779521
GO:0005886	Component	Plasma membrane	TAS
GO:0005911	Component	Cell-cell junction	IEA
GO:0005923	Component	Bicellular tight junction	IEA
GO:0007159	Process	Leukocyte cell-cell adhesion	IBA
GO:0007286	Process	Spermatid development	ISS
GO:0009986	Component	Cell surface	IBA
GO:0009986	Component	Cell surface	IDA	19740376
GO:0009986	Component	Cell surface	IEA
GO:0016020	Component	Membrane	IEA
GO:0031642	Process	Negative regulation of myelination	ISS
GO:0035633	Process	Maintenance of blood-brain barrier	NAS	30280653
GO:0036477	Component	Somatodendritic compartment	ISS
GO:0044291	Component	Cell-cell contact zone	IDA	12239159
GO:0045123	Process	Cellular extravasation	IDA	12239159
GO:0050901	Process	Leukocyte tethering or rolling	IDA	19740376
GO:0050901	Process	Leukocyte tethering or rolling	IEA
GO:0070160	Component	Tight junction	IBA
GO:0070160	Component	Tight junction	ISS
GO:0070161	Component	Anchoring junction	IEA
GO:0071593	Process	Lymphocyte aggregation	IDA	11823489
GO:0097241	Process	Hematopoietic stem cell migration to bone marrow	IEA
GO:0097241	Process	Hematopoietic stem cell migration to bone marrow	IMP	24357068
GO:0098609	Process	Cell-cell adhesion	IMP	24357068
GO:0098609	Process	Cell-cell adhesion	NAS	10779521
GO:0098636	Component	Protein complex involved in cell adhesion	IBA
GO:0098636	Component	Protein complex involved in cell adhesion	IDA	11590146
GO:2000403	Process	Positive regulation of lymphocyte migration	IDA	12239159
GO:2000403	Process	Positive regulation of lymphocyte migration	IEA

MIM	HGNC	e!Ensembl
606870	14686	ENSG00000154721

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

MARRSRHRLLLLLLRYLVVALGYHKAYGFSAPKDQQVVTAVEYQEAILACKTPKKTVSSR
LEWKKLGRSVSFVYYQQTLQGDFKNRAEMIDFNIRIKNVTRSDAGKYRCEVSAPSEQGQN
LEEDTVTLEVLVAPAVPSCEVPSSALSGTVVELRCQDKEGNPAPEYTWFKDGIRLLENPR
LGSQSTNSSYTMNTKTGTLQFNTVSKLDTGEYSCEARNSVGYRRCPGKRMQVDDLNISGI
IAAVVVVALVISVCGLGVCYAQRKGYFSKETSFQKSNSSSKATTMSENDFKHTKSFII

Sequence length

298

Interactions

View interactions

	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

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Causal Diseases (2)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Basal ganglia calcification, idiopathic, 8, autosomal recessive	Pathogenic	rs1601038626, rs1600978441, rs1230941179, rs1383641309, rs781261918, rs751103286, rs1601038704	RCV001029454 RCV001029456 RCV001029458 RCV001029462 RCV001029464 RCV001029466 RCV001029468 View all (2 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
JAM2-related disorder	Pathogenic	rs781261918	RCV003396619	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (12)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Acute myeloid leukemia	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDER	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDERS	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BILATERAL STRIOPALLIDODENTATE CALCINOSIS	—	GWAS catalog, Orphanet GWAS catalog, Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DUCHENNE MUSCULAR DYSTROPHY	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FAHR'S DISEASE	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FAHRS SYNDROME	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
IDIOPATHIC BASAL GANGLIA CALCIFICATION 1	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (26)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Alzheimer Disease	Alzheimer disease	Pubtator	25649652	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Arrhythmogenic Right Ventricular Dysplasia	Arrhythmogenic right ventricular cardiomyopathy	Pubtator	31843279	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Arthritis, Psoriatic	Psoriatic Arthritis	BEFREE	24566686		★★★★★ ★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	Pubtator	31952466, 38375886	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Bilateral striopallidodentate calcinosis	Bilateral Striopallidodentate Calcinosis	Orphanet			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Breast Neoplasms	Breast neoplasm	Pubtator	39270542	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Calcinosis	Calcinosis	Pubtator	36862146	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	36038676	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
cervical cancer	Cervical Cancer	BEFREE	29575013		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervix carcinoma	Cervix carcinoma	BEFREE	29575013		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colon Carcinoma	Colon Carcinoma	BEFREE	29928385		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	25997610, 26782073	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Down Syndrome	Down syndrome	Pubtator	38095646	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	Pubtator	37246165	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Esophageal Squamous Cell Carcinoma	Esophageal squamous cell carcinoma	Pubtator	26004606	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Fahr's disease	Fahr's disease	Pubtator	33793087, 36862146, 39740729	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Fibrosis, Liver	Liver Fibrosis	BEFREE	29753567		★★★★★ ★☆☆☆☆ Found in Text Mining only
Idiopathic Pulmonary Fibrosis	Idiopathic pulmonary fibrosis	Pubtator	31952466	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant tumor of cervix	Cervical Tumor	BEFREE	29575013		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	BEFREE	29928385		★★★★★ ★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	Pubtator	36867577	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	30416798		★★★★★ ★☆☆☆☆ Found in Text Mining only
Primary familial brain calcification	Brain Calcification	BEFREE	31851307		★★★★★ ★☆☆☆☆ Found in Text Mining only
Psoriasis	Psoriasis	BEFREE	24566686		★★★★★ ★☆☆☆☆ Found in Text Mining only
Rheumatoid Arthritis	Rheumatoid arthritis	BEFREE	24566686		★★★★★ ★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	26330360, 33015704	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only

JAM2 (junctional adhesion molecule 2)