JAM3 junctional adhesion molecule 3 [Homo sapiens (human)] - Gene

Summary

Official Symbol: JAM3provided by HGNC
Official Full Name: junctional adhesion molecule 3provided by HGNC
Primary source: HGNC:HGNC:15532
See related: Ensembl:ENSG00000166086 MIM:606871; AllianceGenome:HGNC:15532
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: JAMC; JAM-2; JAM-3; JAM-C
Summary: Tight junctions represent one mode of cell-to-cell adhesion in epithelial or endothelial cell sheets, forming continuous seals around cells and serving as a physical barrier to prevent solutes and water from passing freely through the paracellular space. The protein encoded by this immunoglobulin superfamily gene member is localized in the tight junctions between high endothelial cells. Unlike other proteins in this family, the this protein is unable to adhere to leukocyte cell lines and only forms weak homotypic interactions. The encoded protein is a member of the junctional adhesion molecule protein family and acts as a receptor for another member of this family. A mutation in an intron of this gene is associated with hemorrhagic destruction of the brain, subependymal calcification, and congenital cataracts. Alternative splicing results in multiple transcript variants.[provided by RefSeq, Apr 2011]
Expression: Broad expression in placenta (RPKM 57.0), testis (RPKM 33.0) and 22 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 11q25

Exon count:: 9

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	11	NC_000011.10 (134069072..134152001)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	11	NC_060935.1 (134112013..134194140)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	11	NC_000011.9 (133938967..134021896)

Chromosome 11 - NC_000011.10 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?

JAM3 promotes cervical cancer metastasis by activating the HIF-1alpha/VEGFA pathway.
Title: JAM3 promotes cervical cancer metastasis by activating the HIF-1α/VEGFA pathway.
High-grade cervical lesions diagnosed by JAM3/PAX1 methylation in high-risk human papillomavirus-infected patients.
Title: High-grade cervical lesions diagnosed by JAM3/PAX1 methylation in high-risk human papillomavirus-infected patients.
Downregulation of JAM3 occurs in cholangiocarcinoma by hypermethylation: A potential molecular marker for diagnosis and prognosis.
Title: Downregulation of JAM3 occurs in cholangiocarcinoma by hypermethylation: A potential molecular marker for diagnosis and prognosis.
Epigenetic silencing of JAM3 promotes esophageal cancer development by activating Wnt signaling.
Title: Epigenetic silencing of JAM3 promotes esophageal cancer development by activating Wnt signaling.
Decreased junctional adhesion molecule 3 expression induces reactive oxygen species production and apoptosis in trophoblastsdagger.
Title: Decreased junctional adhesion molecule 3 expression induces reactive oxygen species production and apoptosis in trophoblasts†.
miR-127-5p Targets JAM3 to Regulate Ferroptosis, Proliferation, and Metastasis in Malignant Meningioma Cells.
Title: miR-127-5p Targets JAM3 to Regulate Ferroptosis, Proliferation, and Metastasis in Malignant Meningioma Cells.
Junctional adhesion molecule C expression specifies a CD138low/neg multiple myeloma cell population in mice and humans.
Title: Junctional adhesion molecule C expression specifies a CD138low/neg multiple myeloma cell population in mice and humans.
The role of junctional adhesion molecule-C in trophoblast differentiation and function during normal pregnancy and preeclampsia.
Title: The role of junctional adhesion molecule-C in trophoblast differentiation and function during normal pregnancy and preeclampsia.
Genome sequencing for detection of pathogenic deep intronic variation: A clinical case report illustrating opportunities and challenges.
Title: Genome sequencing for detection of pathogenic deep intronic variation: A clinical case report illustrating opportunities and challenges.
DNA methylation for cervical cancer screening: a training set in China.
Title: DNA methylation for cervical cancer screening: a training set in China.

Submit: New GeneRIF Correction See all GeneRIFs (59)

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
Porencephaly-microcephaly-bilateral congenital cataract syndrome MedGen: C3151000 OMIM: 613730 GeneReviews: Not available	Compare labs

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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Replication interactions

Interaction	Pubs
HIV-1 infection (VSV-G pseudotyped) of CEMT4 T cells downregulates plasma membrane expression of JAM3	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-35044 (e-PCR)
- UniSTS:5641

RH26817 (e-PCR)
- UniSTS:90125

D11S2387 (e-PCR)
- UniSTS:55611

G02300 (e-PCR)
- UniSTS:54342

WI-11521 (e-PCR)
- UniSTS:12641

AFM193yh2 (e-PCR)
- UniSTS:78466

WI-21682 (e-PCR)
- UniSTS:2438

JAM3_1398 (e-PCR)
- UniSTS:277399

WI-8498 (e-PCR)
- UniSTS:82851

RH40091 (e-PCR)
- UniSTS:87718

A008R34 (e-PCR)
- UniSTS:5056

D11S1045 (e-PCR)
- UniSTS:8161

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables cell-cell adhesion mediator activity	IBA Inferred from Biological aspect of Ancestor more info
enables cell-cell adhesion mediator activity	IDA Inferred from Direct Assay more info	PubMed
enables integrin binding	IBA Inferred from Biological aspect of Ancestor more info
enables integrin binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein heterodimerization activity	IEA Inferred from Electronic Annotation more info
enables protein homodimerization activity	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in adaptive immune response	IEA Inferred from Electronic Annotation more info
involved_in adherens junction assembly	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in angiogenesis	IDA Inferred from Direct Assay more info	PubMed
involved_in apical protein localization	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in cell migration	IBA Inferred from Biological aspect of Ancestor more info
involved_in cell-cell adhesion	IBA Inferred from Biological aspect of Ancestor more info
involved_in cell-cell adhesion	IDA Inferred from Direct Assay more info	PubMed
involved_in cell-cell adhesion	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in cell-matrix adhesion	IEA Inferred from Electronic Annotation more info
involved_in establishment of cell polarity	IEA Inferred from Electronic Annotation more info
involved_in granulocyte migration	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in hematopoietic stem cell migration to bone marrow	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in heterotypic cell-cell adhesion	IDA Inferred from Direct Assay more info	PubMed
involved_in leukocyte migration involved in inflammatory response	IEA Inferred from Electronic Annotation more info
involved_in maintenance of blood-brain barrier	NAS Non-traceable Author Statement more info	PubMed
involved_in myelination	IEA Inferred from Electronic Annotation more info
involved_in myeloid progenitor cell differentiation	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of cell adhesion mediated by integrin	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of integrin activation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in neutrophil homeostasis	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within positive regulation of membrane permeability	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within positive regulation of monocyte extravasation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in protein localization to cell junction	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in protein localization to cell surface	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of actin cytoskeleton organization by cell-cell adhesion	IEA Inferred from Electronic Annotation more info
involved_in regulation of neutrophil chemotaxis	IDA Inferred from Direct Assay more info	PubMed
involved_in spermatid development	IEA Inferred from Electronic Annotation more info
involved_in transmission of nerve impulse	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in Golgi apparatus	IDA Inferred from Direct Assay more info
located_in Schmidt-Lanterman incisure	IEA Inferred from Electronic Annotation more info
colocalizes_with bicellular tight junction	IDA Inferred from Direct Assay more info	PubMed
is_active_in cell-cell contact zone	IBA Inferred from Biological aspect of Ancestor more info
located_in cell-cell contact zone	IDA Inferred from Direct Assay more info	PubMed
located_in cell-cell junction	IMP Inferred from Mutant Phenotype more info	PubMed
located_in desmosome	IDA Inferred from Direct Assay more info	PubMed
located_in extracellular space	IDA Inferred from Direct Assay more info	PubMed
part_of filamentous actin	IDA Inferred from Direct Assay more info	PubMed
located_in microvillus	IDA Inferred from Direct Assay more info	PubMed
located_in paranodal junction	IEA Inferred from Electronic Annotation more info
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	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 tight junction	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: junctional adhesion molecule C

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.

Genomic

NG_028348.1 RefSeqGene

Range

5148..88077

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001205329.2 → NP_001192258.1 junctional adhesion molecule C isoform 2 precursor

See identical proteins and their annotated locations for NP_001192258.1

Status: REVIEWED

Description

Transcript Variant: This variant (2) lacks an alternate in-frame exon compared to variant 1. The resulting protein (isoform 2) is shorter compared to isoform 1.

Source sequence(s)

AK125071, AP001775

Consensus CDS

CCDS55799.1

UniProtKB/Swiss-Prot

Q9BX67

Related

ENSP00000395742.3, ENST00000441717.3

Conserved Domains (1) summary

pfam13927
Location:83 → 172

Ig_3; Immunoglobulin domain
NM_032801.5 → NP_116190.3 junctional adhesion molecule C isoform 1 precursor

See identical proteins and their annotated locations for NP_116190.3

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the longer transcript and encodes the longer protein (isoform 1).

Source sequence(s)

AJ416101, AP001775

Consensus CDS

CCDS8494.2

UniProtKB/Swiss-Prot

B3KWG9, Q8WWL8, Q96FL1, Q9BX67

Related

ENSP00000299106.4, ENST00000299106.9

Conserved Domains (2) summary

smart00409
Location:42 → 135

IG; Immunoglobulin

cd00096
Location:156 → 231

Ig; Immunoglobulin domain