JAM3 Gene (Protein Coding)

Junctional Adhesion Molecule 3

GC11P134068
GIFtS:
45
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 endotheli... See more...

Aliases for JAM3 Gene

Aliases for JAM3 Gene

  • Junctional Adhesion Molecule 3 2 3 4 5
  • JAM-C 2 3 4
  • Junctional Adhesion Molecule C 3 4
  • JAM-2 3 4
  • JAM-3 3 4
  • JAMC 2 3
  • JAM3 5

External Ids for JAM3 Gene

Previous GeneCards Identifiers for JAM3 Gene

  • GC11P136435
  • GC11P135453
  • GC11P133972
  • GC11P133476
  • GC11P133444
  • GC11P129893

Summaries for JAM3 Gene

Entrez Gene Summary for JAM3 Gene

  • 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]

GeneCards Summary for JAM3 Gene

JAM3 (Junctional Adhesion Molecule 3) is a Protein Coding gene. Diseases associated with JAM3 include Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts and Jacobsen Syndrome. Among its related pathways are Blood-Brain Barrier and Immune Cell Transmigration: VCAM-1/CD106 Signaling Pathways and Cell surface interactions at the vascular wall. Gene Ontology (GO) annotations related to this gene include protein homodimerization activity and integrin binding. An important paralog of this gene is F11R.

UniProtKB/Swiss-Prot Summary for JAM3 Gene

  • Junctional adhesion protein that mediates heterotypic cell-cell interactions with its cognate receptor JAM2 to regulate different cellular processes (PubMed:11590146, PubMed:11823489). Plays a role in homing and mobilization of hematopoietic stem and progenitor cells within the bone marrow. At the surface of bone marrow stromal cells, it contributes to the retention of the hematopoietic stem and progenitor cells expressing JAM3 (PubMed:11590146, PubMed:24357068). Plays a central role in leukocytes extravasation by facilitating transmigration through the endothelium (By similarity). Plays a role in spermatogenesis where JAM2 and JAM3, which are respectively expressed by Sertoli and germ cells, mediate an interaction between both cell types and play an essential role in the anchorage of germ cells onto Sertoli cells and the assembly of cell polarity complexes during spermatid differentiation (By similarity). Also functions as a counter-receptor for ITGAM, mediating leukocyte-platelet interactions and is involved in the regulation of transepithelial migration of polymorphonuclear neutrophils (PMN) (PubMed:12208882, PubMed:15194813). Plays a role in angiogenesis (PubMed:23255084). Plays a role in the regulation of cell migration (Probable). During myogenesis, it is involved in myocyte fusion (By similarity).
  • [Soluble form of JAM-C]: Promotes chemotaxis of vascular endothelial cells and stimulates angiogenesis.

Gene Wiki entry for JAM3 Gene

Additional gene information for JAM3 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for JAM3 Gene

Genomics for JAM3 Gene

GeneHancer (GH) Regulatory Elements Pubs

Download GeneHancer 2017 data
Promoters and enhancers for JAM3 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around JAM3 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for JAM3

Top Transcription factor binding sites by QIAGEN in the JAM3 gene promoter:
  • AP-1
  • ARP-1
  • COUP
  • COUP-TF
  • COUP-TF1
  • HNF-4alpha1
  • HNF-4alpha2
  • HOXA5
  • POU2F1
  • SRY

Genomic Locations for JAM3 Gene

Latest Assembly
chr11:134,069,071-134,152,001
(GRCh38/hg38)
Size:
82,931 bases
Orientation:
Plus strand

Previous Assembly
chr11:133,938,967-134,021,896
(GRCh37/hg19 by Entrez Gene)
Size:
82,930 bases
Orientation:
Plus strand

chr11:133,938,820-134,021,896
(GRCh37/hg19 by Ensembl)
Size:
83,077 bases
Orientation:
Plus strand

Genomic View for JAM3 Gene

Genes around JAM3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
JAM3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for JAM3 Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for JAM3 Gene

Proteins for JAM3 Gene

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  • Protein details for JAM3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9BX67-JAM3_HUMAN
    Recommended name:
    Junctional adhesion molecule C
    Protein Accession:
    Q9BX67
    Secondary Accessions:
    • B3KWG9
    • Q8WWL8
    • Q96FL1

    Protein attributes for JAM3 Gene

    Size:
    310 amino acids
    Molecular mass:
    35020 Da
    Quaternary structure:
    • Interacts with ITGAM (PubMed:12208882, PubMed:15194813). Interacts with GORASP2 (By similarity).
    SequenceCaution:
    • Sequence=CAC94776.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Alternative splice isoforms for JAM3 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for JAM3 Gene

Protein Expression for JAM3 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for JAM3 Gene

  • Proteolytically cleaved from endothelial cells surface into a soluble form by ADAM10 and ADAM17; the release of soluble JAM3 is increased by proinflammatory factors.
  • S-palmitoylated by ZDHHC7. S-palmitoylation promotes expression at tight junctions.
  • Glycosylation at Asn104 and Asn192
  • Ubiquitination at Lys283 and Lys305
  • Modification sites at PhosphoSitePlus
  • Glycosylation from GlyConnect
    • JAM3_HUMAN (672)

Other Protein References for JAM3 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for JAM3 Gene

Domains & Families for JAM3 Gene

Gene Families for JAM3 Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted intracellular proteins
  • Predicted membrane proteins
  • Predicted secreted proteins

Protein Domains for JAM3 Gene

InterPro:
Blocks:
  • Immunoglobulin C-2 type
  • Immunoglobulin V-set
ProtoNet:

Suggested Antigen Peptide Sequences for JAM3 Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ43081 fis, clone BRTHA3017589, highly similar to Junctional adhesion molecule C (B3KWG9_HUMAN)
  • Junctional adhesion molecule 3 (JAM3_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9BX67

UniProtKB/Swiss-Prot:

JAM3_HUMAN :
  • The Ig-like V-type domain mediates interaction with JAM2.
  • Belongs to the immunoglobulin superfamily.
Domain:
  • The Ig-like V-type domain mediates interaction with JAM2.
Family:
  • Belongs to the immunoglobulin superfamily.
genes like me logo Genes that share domains with JAM3: view

Function for JAM3 Gene

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  6. Cell Lines for research

Molecular function for JAM3 Gene

UniProtKB/Swiss-Prot Function:
Junctional adhesion protein that mediates heterotypic cell-cell interactions with its cognate receptor JAM2 to regulate different cellular processes (PubMed:11590146, PubMed:11823489). Plays a role in homing and mobilization of hematopoietic stem and progenitor cells within the bone marrow. At the surface of bone marrow stromal cells, it contributes to the retention of the hematopoietic stem and progenitor cells expressing JAM3 (PubMed:11590146, PubMed:24357068). Plays a central role in leukocytes extravasation by facilitating transmigration through the endothelium (By similarity). Plays a role in spermatogenesis where JAM2 and JAM3, which are respectively expressed by Sertoli and germ cells, mediate an interaction between both cell types and play an essential role in the anchorage of germ cells onto Sertoli cells and the assembly of cell polarity complexes during spermatid differentiation (By similarity). Also functions as a counter-receptor for ITGAM, mediating leukocyte-platelet interactions and is involved in the regulation of transepithelial migration of polymorphonuclear neutrophils (PMN) (PubMed:12208882, PubMed:15194813). Plays a role in angiogenesis (PubMed:23255084). Plays a role in the regulation of cell migration (Probable). During myogenesis, it is involved in myocyte fusion (By similarity).
UniProtKB/Swiss-Prot Function:
[Soluble form of JAM-C]: Promotes chemotaxis of vascular endothelial cells and stimulates angiogenesis.

Phenotypes From GWAS Catalog for JAM3 Gene

Gene Ontology (GO) - Molecular Function for JAM3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005178 integrin binding IPI 12208882
GO:0005515 protein binding IPI 11590146
GO:0042802 identical protein binding IEA --
GO:0042803 protein homodimerization activity IEA --
GO:0046982 protein heterodimerization activity IEA --
genes like me logo Genes that share ontologies with JAM3: view
genes like me logo Genes that share phenotypes with JAM3: view

Human Phenotype Ontology for JAM3 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for JAM3 Gene

MGI Knock Outs for JAM3:
  • Jam3 Jam3<tm1Rha>
  • Jam3 Jam3<tm1.1(KOMP)Vlcg>
  • Jam3 Jam3<tm1Lex>
  • Jam3 Jam3<tm1.2Chav>

Animal Models for research

  • Taconic Biosciences Mouse Models for JAM3

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for JAM3

No data available for Enzyme Numbers (IUBMB) , miRNA , Transcription Factor Targets and HOMER Transcription for JAM3 Gene

Localization for JAM3 Gene

Subcellular locations from UniProtKB/Swiss-Prot for JAM3 Gene

Cell membrane. Single-pass type I membrane protein. Cell junction. Cell junction, desmosome. Cell junction, tight junction. Note=Detected in the acrosome region in developing spermatids (By similarity). In epithelial cells, it is expressed at desmosomes but not at tight junctions (PubMed:15194813). Localizes at the cell surface of endothelial cells; treatment of endothelial cells with vascular endothelial growth factor stimulates recruitment of JAM3 to cell-cell contacts (PubMed:15994945). {ECO:0000250 UniProtKB:Q9D8B7}.
[Soluble form of JAM-C]: Secreted.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for JAM3 gene
Compartment Confidence
plasma membrane 5
extracellular 5
golgi apparatus 5
cytoskeleton 4
nucleus 2
mitochondrion 1
endoplasmic reticulum 1
endosome 1
cytosol 1
lysosome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Golgi apparatus (4)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for JAM3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region IEA --
GO:0005615 extracellular space IDA 20592283
GO:0005794 Golgi apparatus IDA --
GO:0005886 plasma membrane TAS --
GO:0005887 integral component of plasma membrane IDA 11590146
genes like me logo Genes that share ontologies with JAM3: view

Pathways & Interactions for JAM3 Gene

genes like me logo Genes that share pathways with JAM3: view

Gene Ontology (GO) - Biological Process for JAM3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001525 angiogenesis IEA,IDA 20592283
GO:0001780 neutrophil homeostasis IEA --
GO:0002250 adaptive immune response IEA --
GO:0002318 myeloid progenitor cell differentiation IEA --
GO:0002523 leukocyte migration involved in inflammatory response IEA --
genes like me logo Genes that share ontologies with JAM3: view

No data available for SIGNOR curated interactions for JAM3 Gene

Drugs & Compounds for JAM3 Gene

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No Compound Related Data Available

Transcripts for JAM3 Gene

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mRNA/cDNA for JAM3 Gene

2 REFSEQ mRNAs :
15 NCBI additional mRNA sequence :
8 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for JAM3

Alternative Splicing Database (ASD) splice patterns (SP) for JAM3 Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5a · 5b ^ 6 ^ 7a · 7b ^ 8 ^ 9a · 9b · 9c
SP1: - -
SP2: - - -
SP3: - - - - - - - -
SP4:
SP5:

Relevant External Links for JAM3 Gene

GeneLoc Exon Structure for
JAM3

Expression for JAM3 Gene

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mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for JAM3 Gene

mRNA expression in normal human tissues for JAM3 Gene
mRNA expression by BioGPS for JAM3 GenemRNA expression by GTEx for JAM3 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for JAM3 Gene

This gene is overexpressed in Peripheral blood mononuclear cells (23.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for JAM3 Gene



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for JAM3

SOURCE GeneReport for Unigene cluster for JAM3 Gene:

Hs.150718

mRNA Expression by UniProt/SwissProt for JAM3 Gene:

Q9BX67-JAM3_HUMAN
Tissue specificity: Detected on round and elongated spermatids (at protein level) (PubMed:15372036). Highest expression in placenta, brain and kidney. Significant expression is detected on platelets. Expressed in intestinal mucosa cells. Expressed in the vascular endothelium. Found in serum (at protein level). Also detected in the synovial fluid of patients with rheumatoid arthritis, psoriatic arthritis or ostearthritis (at protein level).

Evidence on tissue expression from TISSUES for JAM3 Gene

  • Nervous system(5)
  • Eye(4.5)
  • Heart(2.7)
  • Blood(2.5)
  • Muscle(2.3)
  • Skin(2)
  • Intestine(2)
  • Spleen(2)
  • Lymph node(2)
  • Kidney(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for JAM3 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • digestive
  • nervous
  • skeletal muscle
Regions:
Head and neck:
  • brain
  • eye
  • head
Abdomen:
  • liver
General:
  • spinal cord
genes like me logo Genes that share expression patterns with JAM3: view

No data available for mRNA differential expression in normal tissues and Protein tissue co-expression partners for JAM3 Gene

Orthologs for JAM3 Gene

This gene was present in the common ancestor of chordates.

Orthologs for JAM3 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
 Mammalia JAM3 30 31
  • 99.78 (n)
 OneToOne
Dog
(Canis familiaris)
 Mammalia JAM3 30 31
  • 86.77 (n)
 OneToOne
Mouse
(Mus musculus)
 Mammalia Jam3 30 17 31
  • 85.59 (n)
 OneToOne
Oppossum
(Monodelphis domestica)
 Mammalia JAM3 31
  • 85 (a)
 OneToOne
Rat
(Rattus norvegicus)
 Mammalia Jam3 30
  • 84.62 (n)
Cow
(Bos Taurus)
 Mammalia JAM3 30 31
  • 83.86 (n)
 OneToOne
Platypus
(Ornithorhynchus anatinus)
 Mammalia JAM3 31
  • 68 (a)
 OneToOne
Chicken
(Gallus gallus)
 Aves JAM3 30 31
  • 71 (n)
 OneToOne
Lizard
(Anolis carolinensis)
 Reptilia JAM3 31
  • 61 (a)
 OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
 Amphibia jam3 30
  • 64.8 (n)
African clawed frog
(Xenopus laevis)
 Amphibia Xl.18489 30
Zebrafish
(Danio rerio)
 Actinopterygii jam3b 30 31
  • 62.02 (n)
 OneToMany
jam3a 31
  • 43 (a)
 OneToMany
-- 30
Sea Squirt
(Ciona savignyi)
 Ascidiacea -- 31
  • 26 (a)
 OneToMany
Species where no ortholog for JAM3 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Fruit Fly (Drosophila melanogaster)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)

Evolution for JAM3 Gene

ENSEMBL:
Gene Tree for JAM3 (if available)
TreeFam:
Gene Tree for JAM3 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for JAM3: view image

Paralogs for JAM3 Gene

Paralogs for JAM3 Gene

(2) SIMAP similar genes for JAM3 Gene using alignment to 3 proteins:

  • JAM3_HUMAN
  • H0YCW9_HUMAN
  • H0YD98_HUMAN
genes like me logo Genes that share paralogs with JAM3: view

Variants for JAM3 Gene

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Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for JAM3 Gene

SNP ID Clinical significance and condition Chr 11 pos Variation AA Info Type
872565 Pathogenic: not provided 134,140,741(+) CAT/C
NM_032801.5(JAM3):c.228_229AT[1] (p.Tyr77fs) 		FRAMESHIFT
931312 Likely Pathogenic: Hemorrhagic destruction of the brain, subependymal calcification, and cataracts 134,069,085(+) T/A
NM_032801.5(JAM3):c.2T>A (p.Met1Lys) 		INITIATIOR_CODON_VARIANT,MISSENSE
rs1304664976 Likely Benign: not provided 134,144,970(+) C/T
NM_032801.5(JAM3):c.588C>T (p.His196=) 		SYNONYMOUS
rs139421684 Likely Benign: not provided 134,148,804(+) C/T
NM_032801.5(JAM3):c.883C>T (p.Arg295Cys) 		MISSENSE
rs140175256 Likely Benign: not provided 134,069,126(+) C/G
NM_032801.5(JAM3):c.43C>G (p.Leu15Val) 		MISSENSE

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for JAM3 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for JAM3 Gene

Variant ID Type Subtype PubMed ID
dgv159e201 CNV deletion 23290073
dgv160e201 CNV deletion 23290073
dgv18n68 CNV loss 17160897
esv1009143 CNV insertion 20482838
esv1036645 CNV insertion 17803354
esv21560 CNV loss 19812545
esv2660409 CNV deletion 23128226
esv27389 CNV gain 19812545
esv2740963 CNV deletion 23290073
esv2742928 CNV deletion 23290073
esv2745312 CNV deletion 23290073
esv2745313 CNV deletion 23290073
esv2745314 CNV deletion 23290073
esv2745315 CNV deletion 23290073
esv2745316 CNV deletion 23290073
esv2745318 CNV deletion 23290073
esv2745321 CNV deletion 23290073
esv3628161 CNV loss 21293372
esv3628162 CNV loss 21293372
esv3892114 CNV gain 25118596
nsv1144600 CNV deletion 24896259
nsv521581 CNV gain 19592680
nsv556597 CNV loss 21841781
nsv975245 CNV duplication 23825009

Variation tolerance for JAM3 Gene

Residual Variation Intolerance Score: 45.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.25; 40.37% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for JAM3 Gene

Human Gene Mutation Database (HGMD)
JAM3
SNPedia medical, phenotypic, and genealogical associations of SNPs for
JAM3

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for JAM3 Gene

Disorders for JAM3 Gene

MalaCards: The human disease database

(6) MalaCards diseases for JAM3 Gene - From: OMI, CVR, GTR, ORP, SWI, COP, and GCD

- elite association - COSMIC cancer census association via MalaCards
Search JAM3 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

JAM3_HUMAN
  • Hemorrhagic destruction of the brain with subependymal calcification and cataracts (HDBSCC) [MIM:613730]: A syndrome characterized by congenital cataracts and severe brain abnormalities apparently resulting from hemorrhagic destruction of the brain parenchyma, including the cerebral white matter and basal ganglia. Patients manifest profound developmental delay, and other neurologic features included seizures, spasticity, and hyperreflexia. The clinical course is very severe resulting in death in infancy. Brain imaging shows multifocal intraparenchymal hemorrhage with associated liquefaction and massive cystic degeneration, and calcification in the subependymal region and in brain tissue. {ECO:0000269 PubMed:21109224, ECO:0000269 PubMed:23255084}. Note=The disease is caused by variants affecting the gene represented in this entry.

Additional Disease Information for JAM3

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with JAM3: view

No data available for Genatlas for JAM3 Gene

Publications for JAM3 Gene

  1. Delineation of the clinical, molecular and cellular aspects of novel JAM3 mutations underlying the autosomal recessive hemorrhagic destruction of the brain, subependymal calcification, and congenital cataracts. (PMID: 23255084) Akawi NA … Al-Gazali L (Human mutation 2013) 3 4 74
  2. Antibody against junctional adhesion molecule-C inhibits angiogenesis and tumor growth. (PMID: 15994945) Lamagna C … Aurrand-Lions M (Cancer research 2005) 3 4 23
  3. JAM-C is a component of desmosomes and a ligand for CD11b/CD18-mediated neutrophil transepithelial migration. (PMID: 15194813) Zen K … Parkos CA (Molecular biology of the cell 2004) 3 4 23
  4. Cloning of human junctional adhesion molecule 3 (JAM3) and its identification as the JAM2 counter-receptor. (PMID: 11590146) Arrate MP … Cunningham SA (The Journal of biological chemistry 2001) 3 4 23
  5. S-Palmitoylation of Junctional Adhesion Molecule C Regulates Its Tight Junction Localization and Cell Migration. (PMID: 28196865) Aramsangtienchai P … Lin H (The Journal of biological chemistry 2017) 3 4

ExternalLinks

View latest publications for JAM3 gene in Mastermind

Products for JAM3 Gene

  • Addgene plasmids for JAM3

Sources for JAM3 Gene