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FLASH GENE

Symbol

JAM3

contributors: shn/npt/pgu - updated : 24-08-2020

HGNC name	junctional adhesion molecule 3
HGNC id	15532

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	BCPMG2 band-like calcification with simplified gyration and polymicrogyria 2 DEL11QD chromosome 11q distal deletion syndrome
Location	11q25      Physical location : 133.938.819 - 134.021.649
Synonym name	junctional adhesion molecule C
Synonym symbol(s)	JAMC, JAM-C, FLJ14529, JAM-2 , JAM-3, FLJ14529

DNA

TYPE	functioning gene
STRUCTURE	82.93 kb     9 Exon(s)

10 Kb 5' upstream gene genomic sequence study

MAPPING

cloned

Y

linked

N

status

provisional

Map	cen - D11S4112 - D11S4098 - JAM3 - D11S4125 - D11S2359 - qter

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_032801 9 - 3675 NP_116190 43 355 . localized to Schwann cells at junctions between adjoining myelin end loops . peripheral and sural nerves . tight junctions of cultured hfRPE cells and adult native RPE 2009 19060272 NM_001205329 8 - 3612 NP_001192258 - 259 - 2009 19060272

EXPRESSION

Type

widely

expressed in

(based on citations)

organ(s)

System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Cardiovascular vessel       highly Homo sapiens Digestive intestine       highly Homo sapiens Lymphoid/Immune lymphatic vessel       highly Homo sapiens Adult Nervous brain forebrain cerebral lobe occipital lobe highly   brain forebrain cerebral lobe frontal lobe highly   brain hindbrain medulla oblongata   highly   brain forebrain cerebral cortex   highly   brain hindbrain cerebellum   highly   brain       highly Homo sapiens   brain forebrain cerebral lobe temporal lobe highly Reproductive female system placenta     highly Homo sapiens Urinary kidney       highly Homo sapiens Visual eye retina     highly Homo sapiens

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Muscular striatum skeletal   highly

cells

System Cell Pubmed Species Stage Rna symbol Blood/Hematopoietic progenitor cell Homo sapiens Adult Cardiovascular endothelial cell Homo sapiens Digestive epithelial cell Homo sapiens Lymphoid/Immune B cell Homo sapiens Adult Nervous Schawnn cell Homo sapiens Reproductive germ cell Homo sapiens

cell lineage
cell lines	endothelial cells HAEC and HUVEC
fluid/secretion

at STAGE

physiological period

embryo, fetal, pregnancy

Text	placenta, heart (outflow tract), neural tube, eye, moderately in imbilical cord

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	a 30 aa signal peptide of 3 kda
	two Ig-like folds (one a V type and the other a C2 type containing six cysteines)
	two potential N glycosylation sites
	C terminal binding motif for PDZ domain
	a phosphorylation site

conjugated

GlycoP

HOMOLOGY

interspecies	ortholog to Jam3, rattus norvegicus
	ortholog to Jam3, Mus msculus
	ortholog to JAM3, Pan troglodytes
	ortholog to jam3, Danio rerio

intraspecies

homolog to JAM2, JAM1

Homologene

FAMILY	immunoglobulin superfamily
	member of the junctional adhesion molecule (JAM) family

CATEGORY

adhesion

SUBCELLULAR LOCALIZATION	plasma membrane,junction,tight
	plasma membrane,junction,desmosome
	intracellular
	intracellular,cytoplasm,organelle,Golgi
text	integral transmembrane protein of tight junction, colocalizing with F actin at membrane ruffles
	single-pass type I membrane protein
	co-localized with TJP1 to adherens-like junctions
	localizes to the apically localized tight junctions (TJs) between contacting endothelial and epithelial cells, where it contributes to cell-cell adhesions

basic FUNCTION	mediating interaction of JAM2 with T, NK and dendritic cells
	may participating in cell-cell adhesion distinct from tight junctions
	playing an important role in maintaining the integrity and function of myelinated peripheral nerves
	participating in the later steps of the leukoendothelial adhesion cascade
	may playing a role in desmosomal structure/function
	a possible role in endothelial cell polarity
	required for the differentiation of round spermatids into spermatozoa
	play an important role in the assembly and maintenance of tight junctions and in the establishment of epithelial cell polarity
	required for maturation and polarization of cone photoreceptors cells
	JAM1, JAM2, JAM3 expressions on the lymphatic endothelium may contribute to both seal the cell-cell contact at interendothelial junctions
	a component of the autotypic junctional attachments of Schwann cells, plays an important role in maintaining the integrity and function of myelinated peripheral nerves
	regulates unidirectional monocyte transendothelial migration in inflammation
	important for tight junction formation and polarization of human retinal pigment epithelium cells and promotes the basal-to-apical transmigration of granulocytes through the hfRPE
	regulate transmigration of granulocytes in retinal pigment epithelium, and it might play a role in retinal inflammatory processes
	plays a critical role in the initiation of inflammatory pathologies of the retina
	regulates polarized transendothelial migration of neutrophils
	is a novel surface marker for neural stem cells
	JAMB and JAMC are potentially essential for vertebrate myocyte fusion
	role of JAM2, JAM3 in progression of gastric adenocarcinoma
	play critical roles during development and in immune responses
	is involved in germ cell polarity and acrosome formation
	plays a pivotal role in neutrophil transmigration into tissues
	may be a novel tumor suppressor gene with epigenetic reduction in colorectal cancer (CRC)
	dynamic JAM3 trafficking and degradation are necessary for junctional remodelling during cell migration and angiogenesis

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

inflammation , nervous system

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA

RNA

small molecule

protein	JAM1
	interactions with JAM2 and JAM3 are essential for development of cutaneous inflammation
	JAM2 is a high affinity JAM3 ligand
	cell polarity protein PAR-3
	beta2-integrin Mac-1
	alphaXbeta2, CD11c/CD18
	functional adhesive interaction between JAM2 and JAM3 is found between human hematopoietic stem and progenitor cells (HSPC) and mesenchymal stem cells
	JAM3 plays an important role in maintaining KDR expression to promote RPE cell survival under oxidative stress
	JAM3 interacted with the Golgi reassembly stacking protein of 55 kDa (GORASP2) in developing germ cells

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

DEL11QD , BCPMG2

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function tumoral     --over   significantly elevated in renal carcinoma cells compared with that in renal tubular epithelial cells

Susceptibility

Variant & Polymorphism

Candidate gene	is a new identification tool in B-cell lymphoma diagnosis
Marker	can be used as a potential noninvasive biomarker for colorectal cancer (CRC) diagnosis
Therapy target
	System Type Disorder Pubmed cancer hemopathy   Targeting JAM-C could thus constitute a new therapeutic strategy to prevent lymphoma cells from reaching supportive microenvironments not only in the bone marrow and lymph nodes but also in the spleen cancer brain   potential of JAM3 and JAM2 as new targets for the treatment of human gliomas cancer urinary   novel target gene for the diagnosis and treatment of renal cell carcinoma (RCC) immunology infectious   reduction of the pro-inflammatory aged neutrophils by blockade of JAM3 has a novel therapeutic potential in sepsis-induced acute lung injury (ALI)

ANIMAL & CELL MODELS

	JAM-C gene knocked out mice exhibited loss of integrity of the myelin sheath, defective nerve conduction and motor abnormalities
	JAM3 knockdown caused a delay in the hfRPE cell polarization, and JAM3 inhibition significantly decreased the chemokine-induced transmigration of granulocytes through the hfRPE monolayer