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

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: mouse all
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Genomic context

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_000021.9 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

JAM2 variants can be more common in primary familial brain calcification (PFBC) cases than those appear; may be due to a founder mutation.
Title: JAM2 variants can be more common in primary familial brain calcification (PFBC) cases than those appear; may be due to a founder mutation.
JAM2 is a prognostic biomarker and inhibits proliferation, metastasis and epithelial-mesenchymal transition in lung adenocarcinoma.
Title: JAM2 is a prognostic biomarker and inhibits proliferation, metastasis and epithelial-mesenchymal transition in lung adenocarcinoma.
JAM2 predicts a good prognosis and inhibits invasion and migration by suppressing EMT pathway in breast cancer.
Title: JAM2 predicts a good prognosis and inhibits invasion and migration by suppressing EMT pathway in breast cancer.
mutant JAM2 protein resulted in impaired cell-cell adhesion functions and reduced integrity of the neurovascular unit
Title: Biallelic loss-of-function mutations in JAM2 cause primary familial brain calcification.
Along with JAM3 and OCLN, JAM2 is the third tight-junction gene in which bi-allelic variants are associated with brain calcification, suggesting that defective cell-to-cell adhesion and dysfunction of the movement of solutes through the paracellular spaces in the neurovascular unit is a key mechanism in CNS calcification
Title: Bi-allelic JAM2 Variants Lead to Early-Onset Recessive Primary Familial Brain Calcification.
iR-374b significantly inhibits cell proliferation, migration, and invasion through the blockade of the p38/ERK signaling pathway activation, as well as negatively binding to JAM-2
Title: MicroRNA-374b inhibits cervical cancer cell proliferation and induces apoptosis through the p38/ERK signaling pathway by binding to JAM-2.
this review briefly focuses on what is currently known about the structure, function, and mechanism of JAM-B, with particular emphasis on cancer. [review]
Title: The role of JAM-B in cancer and cancer metastasis (Review).
JAM-2 may function as a putative tumour suppressor in the progression and metastasis of colorectal cancer
Title: Effect of junctional adhesion molecule-2 expression on cell growth, invasion and migration in human colorectal cancer.
This study showed thatJAM2 (rs2829841; intronic), associated with Alzheimer disease.
Title: Linking Genetics of Brain Changes to Alzheimer's Disease: Sparse Whole Genome Association Scan of Regional MRI Volumes in the ADNI and AddNeuroMed Cohorts.
Function of Jam-B/Jam-C interaction in homing and mobilization of human and mouse hematopoietic stem and progenitor cells.
Title: Function of Jam-B/Jam-C interaction in homing and mobilization of human and mouse hematopoietic stem and progenitor cells.

Submit: New GeneRIF Correction See all GeneRIFs (17)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

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 EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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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

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

SHGC-170146 (e-PCR)
- UniSTS:183556

GDB:191984 (e-PCR)
- UniSTS:155657

Cda18a04 (e-PCR)
- UniSTS:77071

RH94377 (e-PCR)
- UniSTS:86050

AB049876 (e-PCR)
- UniSTS:479787

D8S2279 (e-PCR)
- UniSTS:473907

D11S3430 (e-PCR)
- UniSTS:152671

G34697 (e-PCR)
- UniSTS:2213

SHGC-87519 (e-PCR)
- UniSTS:5845

STS-R68464 (e-PCR)
- UniSTS:52982

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

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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)

NM_001270407.2 → NP_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:35 → 94

IG_like; Immunoglobulin like

cd00096
Location:115 → 189

Ig; Immunoglobulin domain
NM_001270408.2 → NP_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:35 → 130

IG_like; Immunoglobulin like

cd00096
Location:151 → 225

Ig; Immunoglobulin domain
NM_021219.4 → NP_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:137 → 141

Ig; Ig strand A [structural motif]

cd20946
Location:30 → 131

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:137 → 232

Ig; Immunoglobulin domain

RNA

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