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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

JAM3 Gene

protein-coding GIFtS: 65
GCID: GC11P133972

junctional adhesion molecule 3

Explore 13 diseases affiliated with
JAM3 via

MalaCards

our new
Human Malady Compendium

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, and/or ¹⁰fRNAdb)
About This Section

Aliases
Junctional Adhesion Molecule 3¹ ² ³
JAM-C¹ ² ³
JAMC¹ ²
JAM-2² ³
JAM-3² ³
Junctional Adhesion Molecule C²

External Ids:	HGNC: 15532¹	Entrez Gene: 83700²	Ensembl: ENSG00000166086⁷	OMIM: 606871⁵	UniProtKB: Q9BX67³

Export aliases for JAM3 gene to outside databases

Previous GC identifers: GC11P136435 GC11P135453 GC11P133476 GC11P133444 GC11P129893

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for JAM3:

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)

UniProtKB/Swiss-Prot: JAM3_HUMAN, Q9BX67

Function: Participates in cell-cell adhesion. It is a counter-receptor for ITGAM, mediating leukocyte-platelet

interactions and is involved in the regulation of transepithelial migration of polymorphonuclear neutrophils (PMN).

The soluble form is a mediator of angiogenesis

Gene Wiki entry for JAM3

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000011.9 NC_018922.1 NT_033899.8

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the JAM3 gene promoter:
COUP-TF1 AP-1 COUP HNF-4alpha2 HNF-4alpha1 SRY POU2F1 COUP-TF HOXA5 ARP-1
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: JAM3 promoter sequence

Search SABiosciences Chromatin IP Primers for JAM3

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat JAM3

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 11q25 Ensembl cytogenetic band: 11q25 HGNC cytogenetic band: 11q25

JAM3 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
JAM3 gene location

GeneLoc information about chromosome 11 GeneLoc Exon Structure

GeneLoc location for GC11P133972: view genomic region (about GC identifiers)

Start:	133,938,820 bp from pter	End:	134,021,896 bp from pter
Size:	83,077 bases	Orientation:	plus strand

(According to ¹UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to ²PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: JAM3_HUMAN, Q9BX67 (See protein sequence)

Recommended Name: Junctional adhesion molecule C precursor

Size: 310 amino acids; 35020 Da

Subunit: Interacts with JAM2. Interacts with ITGAM

Subcellular location: Cell membrane; Single-pass type I membrane protein (Potential). Cell junction, desmosome.

Secreted, extracellular space. Note=In epithelial cells, it is expressed at desmosomes but not at tight junctions.

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

Sequence caution: Sequence=CAC94776.1; Type=Erroneous initiation;

Secondary accessions: B3KWG9 Q8WWL8 Q96FL1

Alternative splicing: 2 isoforms: Q9BX67-1 Q9BX67-2 (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for JAM3: NX_Q9BX67

Post-translational modifications:

Proteolytically cleaved from endothelial cells surface into a soluble form by ADAM10 and ADAM17; the release of soluble

JAM3 is increased by proinflammatory factors¹

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_Q9BX67

JAM3 Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins (2 alternative transcripts):

NP_001192258.1 NP_116190.3

ENSEMBL proteins:

ENSP00000299106 ENSP00000432455 ENSP00000433206 ENSP00000436525 ENSP00000395742

ENSP00000431883

Reactome Protein details: Q9BX67
Human Recombinant Protein Products:

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	Sino Biological Recombinant Protein for JAM3
	ProSpec Recombinant Protein for JAM3
	Uscn Proteins for JAM3

Gene Ontology (GO): 5/9 cellular component terms (GO ID links to tree view) (see all 9): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005615	extracellular space	IDA	--
GO:0005886	plasma membrane	TAS	--
GO:0005911	cell-cell junction	--	--
GO:0005923	tight junction	IEA	--
GO:0016021	integral to membrane	IEA	--

JAM3 for ontologies About GeneDecksing

JAM3 Antibody Products:

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	Browse Enzo Life Sciences for kits & assays
	Uscn ELISAs and CLIAs for JAM3

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

JAM3 for domains About GeneDecksing

5 InterPro domains/families:

IPR003598 Ig_sub2

IPR007110 Ig-like_dom

IPR003599 Ig_sub

IPR013783 Ig-like_fold

IPR013106 Ig_V-set

Graphical View of Domain Structure for InterPro Entry Q9BX67

ProtoNet protein and cluster: Q9BX67

2 Blocks protein families:

IPB003598 Immunoglobulin C-2 type

IPB013106 Immunoglobulin V-set

UniProtKB/Swiss-Prot: JAM3_HUMAN, Q9BX67

Similarity: Belongs to the immunoglobulin superfamily

Similarity: Contains 1 Ig-like C2-type (immunoglobulin-like) domain

Similarity: Contains 1 Ig-like V-type (immunoglobulin-like) domain

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

Function Summary:

UniProtKB/Swiss-Prot: JAM3_HUMAN, Q9BX67

Function: Participates in cell-cell adhesion. It is a counter-receptor for ITGAM, mediating leukocyte-platelet

interactions and is involved in the regulation of transepithelial migration of polymorphonuclear neutrophils (PMN).

The soluble form is a mediator of angiogenesis

miRNA Products:		OriGene 3'-UTR Clone: JAM3 Browse MicroRNA Expression Plasmids
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat JAM3
		8/29 QIAGEN miScript miRNA Assays for microRNAs that regulate JAM3 (see all 29):
		hsa-miR-485-5p hsa-miR-3152-3p hsa-miR-502-5p hsa-miR-202 hsa-let-7a-2* hsa-miR-624* hsa-miR-548s hsa-miR-340

		SwitchGear 3'UTR luciferase reporter plasmid: JAM3 3' UTR sequence

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		OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for JAM3 (see all 6) OriGene siRNA: JAM3
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Gene Editing
Products:

DNA2.0 Custom Protein Engineering Service for JAM3

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		GenScript: all cDNA clones in your preferred vector (see all 2): JAM3 (NM_001205329)
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Cell Line Products:		GenScript Custom overexpressing Cell Line Services for JAM3
		Search LifeMap BioReagents cell lines for JAM3

In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for JAM3

Gene Ontology (GO): 4 molecular function terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005178	integrin binding	IPI	15194813
GO:0005515	protein binding	IPI	--
GO:0042803	protein homodimerization activity	IEA	--
GO:0046982	protein heterodimerization activity	IEA	--

JAM3 for ontologies           About GeneDecksing

Animal Models:
     Mouse knock-out Jam3^tm1.2Chav for JAM3
     9 MGI mutant phenotypes (inferred from 3 alleles) (MGI details for Jam3):

cellular	digestive/alimentary	endocrine/exocrine gland	hematopoietic system	immune system
mortality/aging	reproductive system	respiratory system	tumorigenesis

JAM3 for phenotypes About GeneDecksing

(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to ¹UniProtKB, ²MINT, ³I2D, and/or ⁴STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
About This Section

Unified GeneCards pathways - 5/12 super-pathways (see all 12) About this table

See pathways by source

Super-pathway

contained gene-specific pathways

Cell adhesion Tight junctions

Cell adhesion Tight junctions

1.00

Cell adhesion_Tight junctions

0.99

Sertoli-Sertoli Cell Junction Dynamics

Sertoli-Sertoli Cell Junction Dynamics

1.00

Epithelial Tight Junctions

0.36

amb2 Integrin signaling

amb2 Integrin signaling

1.00

Leukocyte transendothelial migration

Leukocyte transendothelial migration

1.00

Tight junction

Tight junction

1.00

Pathway sources
See GeneCards unified pathways
Show all pathways

1 EMD Millipore Pathway for JAM3

Cell adhesion Tight junctions

3 Downloadable PowerPoint Slides of QIAGEN Pathway Central Maps for JAM3

	Sertoli-Sertoli Cell Junction Dynamics
	Epithelial Tight Junctions
	Transendothelial Migration of Leukocytes

1 GeneGo (Thomson Reuters) Pathway for JAM3

Cell adhesion Tight junctions

1 BioSystems Pathway for JAM3

amb2 Integrin signaling

4 Reactome Pathways for JAM3

	Hemostasis
	Integrin cell surface interactions
	Signal Transduction
	Cell surface interactions at the vascular wall

4 Kegg Pathways (Kegg details for JAM3):

	Cell adhesion molecules (CAMs)
	Tight junction
	Leukocyte transendothelial migration
	Epithelial cell signaling in Helicobacter pylori infection

JAM3 for pathways About GeneDecksing

Interactions:

SABiosciences Gene Network Central^TM Interacting Genes and Proteins Network for JAM3

STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

5/26 Interacting proteins for JAM3 (Q9BX67^{1, 2, 3} ENSP00000299106⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 26)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
PARD3	Q8TEW0²^,³, ENSP00000363921⁴	MINT-4085406 I2D: score=2 STRING: ENSP00000363921
ITGAX	P20702³, ENSP00000268296⁴	I2D: score=1 STRING: ENSP00000268296
TJP1	Q07157³, ENSP00000281537⁴	I2D: score=1 STRING: ENSP00000281537
PICK1	Q9NRD5³, ENSP00000349465⁴	I2D: score=1 STRING: ENSP00000349465
ITGAM	P11215³, ENSP00000287497⁴	I2D: score=2 STRING: ENSP00000287497

About this table

Gene Ontology (GO): 5/16 biological process terms (GO ID links to tree view) (see all 16): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0001525	angiogenesis	IDA	--
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	--

JAM3 for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for JAM3
Search CenterWatch for drugs/clinical trials and news about JAM3

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from EMD Millipore,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for JAM3 gene (2 alternative transcripts):

NM_001205329.1 NM_032801.4

Unigene Cluster for JAM3:

Junctional adhesion molecule 3

Hs.150718 [show with all ESTs]

Unigene Representative Sequence: NM_032801

10 Ensembl transcripts including schematic representations, and UCSC links where relevant:

ENST00000299106(uc001qhb.2 uc009zcz.2) ENST00000532252 ENST00000534549

ENST00000531698 ENST00000441717 ENST00000531302 ENST00000524969 ENST00000532165

ENST00000533711 ENST00000529443

miRNA Products:		OriGene 3'-UTR Clone: JAM3 Browse OriGene MicroRNA Expression Plasmids
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat JAM3
		8/29 QIAGEN miScript miRNA Assays for microRNAs that regulate JAM3 (see all 29):
		hsa-miR-485-5p hsa-miR-3152-3p hsa-miR-502-5p hsa-miR-202 hsa-let-7a-2* hsa-miR-624* hsa-miR-548s hsa-miR-340

		SwitchGear 3'UTR luciferase reporter plasmid: JAM3 3' UTR sequence

Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
		OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for JAM3 (see all 6) OriGene siRNA: JAM3
		QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat JAM3

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		GenScript: all cDNA clones in your preferred vector (see all 2): JAM3 (NM_001205329)
		DNA2.0 Custom Codon Optimized Gene Synthesis Service for JAM3
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		QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat JAM3
		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat JAM3

Additional cDNA sequence:

AF356518.1 AF448478.1 AJ344431.1 AJ416101.1 AK027435.1 AK074769.1 AK075309.1 AK125071.1

AK225666.1 AY358335.1 BC010690.1 BC012147.1 BC057284.1 BC063031.1

18 DOTS entries:

DT.442715 DT.100025623 DT.97799659 DT.95191672 DT.97769862 DT.120684377 DT.101983753 DT.100020795

DT.70105331 DT.100852217 DT.120684383 DT.100684258 DT.100864300 DT.120684251 DT.120684342 DT.92044977

DT.95191809 DT.95375209

24/220 AceView cDNA sequences (see all 220):

CD515638 AA978196 Z42102 BQ004969 BM551307 BC010690 CR617412 CD172465

BU608650 BQ228177 AI139050 BU165328 BM461425 CB218634 BQ694431 BE909801

T32676 Z38370 BQ439580 AL521404 AI144018 CD516043 AW026671 AI146486

GeneLoc Exon Structure

5 Alternative Splicing Database (ASD) splice patterns (SP) for JAM3 About this scheme

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

ECgene alternative splicing isoforms for JAM3

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

JAM3 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: --

About this image

JAM3 expression in embryonic tissues and stem cells

Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine About this table

1 LifeMap In Vivo Development Anatomical Compartment/Cell

Tissue

Anatomical Compartment

Cell

Category (developmental path)

Brain

Choroid Plexus

Mature Choroid Plexus Cells

Choroid Plexus

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

See JAM3 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for JAM3

SOURCE GeneReport for Unigene cluster: Hs.150718

UniProtKB/Swiss-Prot: JAM3_HUMAN, Q9BX67

Tissue specificity: 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)

SABiosciences Expression via Pathway-Focused PCR Arrays including JAM3:

Tight Junctions in human mouse rat

Cell Junction PathwayFinder in human mouse rat

Primer Products:		OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for JAM3 Browse OriGene validated miRNA SYBR primer pairs
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		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat JAM3

In Situ
Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for JAM3

(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD , ⁵MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or ⁶Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
About This Section

This gene was present in the common ancestor of chordates.

Orthologs for JAM3 gene from 4/12 species (see all 12) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
chicken (Gallus gallus)	Aves	JAM3¹	junctional adhesion molecule 3	70.65(n) 72.35(a)		419736 XM_417876.3 XP_417876.3
lizard (Anolis carolinensis)	Reptilia	JAM3⁶	--	52(a)	1 ↔ 1	GL343396.1(894482-902029)
African clawed frog (Xenopus laevis)	Amphibia	Xl.18489²	Xenopus laevis transcribed sequences	81.22(n)		BI347911.1
zebrafish (Danio rerio)	Actinopterygii	57065264²	--	72.97(n)		321348 57065264

ENSEMBL Gene Tree for JAM3 (if available)
TreeFam Gene Tree for JAM3 (if available)

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
About This Section

Paralogs for JAM3 gene

CLMP² ESAM² VSIG8² GPA33² JAM2² VSIG1² CXADR² VSIG2²

C1orf204² IGSF11² F11R²

2 SIMAP similar genes for JAM3 using alignment to 4 protein entries: JAM3_HUMAN (see all proteins):

JAM2 F11R

JAM3 for paralogs About GeneDecksing

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section

SNP ID	Valid	Clinical significance	Chr 11 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs2002527^1,2	C,	--	129891259(-)	`aaataC/Gaaaaa`	2	--	us2k¹		2		NA CSA	4
rs112381940^1,2	C,	--	129891437(+)	`TTTAAG/AAAGTG`	2	--	us2k¹		1		NA	2
rs73040299^1,2	C,	--	129892028(+)	`AATATG/TCCTGG`	2	--	us2k¹		0	--	--	--	--
rs59090791^1,2		--	129892278(+)	`TTTTTA/TAATTT`	2	--	us2k¹		0	--	--	--	--
rs1940144^1,2	C,	--	129893158(-)	`TACAAG/CAGTGA`	2	--	us2k¹		4		MN NA CSA WA	394
rs11602831^1,2	C,H	--	129894086(+)	`GGCTCA/GTCCCC`	2	--	int¹		1		NA	2
rs11602832^1,2	C,A,H	--	129894092(+)	`TCCCCC/GGGGTG`	2	--	int¹		1		NA	2
rs11223679^1,2	C,	--	129894421(+)	`AAATAG/ACATTC`	2	--	int¹		4		WA NA EA	360
rs117919989^1,2	C,F,	--	129894734(+)	`CACACT/CCTTCC`	2	--	int¹		1		EA	120
rs77692824^1,2	F,	--	129895958(+)	`TCTTTT/CGTTGA`	2	--	int¹		1		WA	118

HapMap Linkage Disequilibrium report for JAM3 (133938820 - 134021896 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 4 variations for JAM3
2 CNVs: 71404 71403
2 Indels: 86094 75852
Human Gene Mutation Database (HGMD): JAM3

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(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
About This Section

JAM3 for disorders           About GeneDecksing

OMIM gene information: 606871
OMIM disorders: 613730
UniProtKB/Swiss-Prot: JAM3_HUMAN, Q9BX67

Defects in JAM3 are the cause of 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 tissue, including the cerebral white matter and basal

ganglia. Patients manifest profound developmental delay, and other neurologic features included seizures, spasticity,

and hyperreflexia. Brain imaging shows multifocal intraparenchymal hemorrhage with associated liquefaction and massive

cystic degeneration, and calcification in the subependymal region and in brain tissue

13 diseases for JAM3: About MalaCards

hemorrhagic destruction of the brain, subependymal calcification, and cataracts congenital cataracts cataract torch syndrome

psoriatic arthritis bipolar disorder rheumatoid arthritis arthritis

fibrosarcoma spasticity cerebritis retinitis

melanoma

2 diseases from the University of Copenhagen DISEASES database for JAM3:

pseudo-TORCH syndrome Aicardi-Goutieres syndrome

Human Genome Epidemiology (HuGE) Navigator: JAM3 (4 documents)

Export disorders for JAM3 gene to outside databases

(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶HMDB, ⁷DrugBank, ⁸UniProtKB/TrEMBL, ⁹ Novoseek, and/or ¹⁰fRNAdb)
About This Section

PubMed articles for JAM3 gene, integrated from 9 sources (see all 50):
(articles sorted by number of sources associating them with JAM3)

Utopia: connect your pdf to the dynamic
world of online information

Cloning of human junctional adhesion molecule 3 (JAM3) and its identification as the JAM2 counter-receptor. (PubMed id 11590146)^{1, 2, 9} Arrate M.P.... Cunningham S.A. (2001)
JAM-C is a component of desmosomes and a ligand for CD11b/CD18-mediated neutrophil transepithelial migration. (PubMed id 15194813)^{1, 2, 9} Zen K....Parkos C.A. (2004)
Antibody against junctional adhesion molecule-C inhibits angiogenesis and tumor growth. (PubMed id 15994945)^{1, 2, 9} Lamagna C....Aurrand-Lions M. (2005)
Junctional adhesion molecule-C is a soluble mediator of angiogenesis. (PubMed id 20592283)^{1, 2} Rabquer B.J....Koch A.E. (2010)
A homozygous mutation in the tight-junction protein J AM3 causes hemorrhagic destruction of the brain, subependymal calcification, an d congenital cataracts. (PubMed id 21109224)^{1, 2} Mochida G.H....Walsh C.A. (2010)
Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)^{1, 2} Ota T.... Sugano S. (2004)
Signal peptide prediction based on analysis of experimentally verified cleavage sites. (PubMed id 15340161)^{1, 2} Zhang Z. and Henzel W.J. (2004)
The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)^{1, 2} Gerhard D.S....Malek J. (2004)
Leukocyte-endothelial-cell interactions in leukocyte transmigration and the inflammatory response. (PubMed id 12810109)^{1, 2} Muller W.A. (2003)
The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment. (PubMed id 12975309)^{1, 2} Clark H.F.... Gray A.M. (2003)

(in PubMed, OMIM, and NCBI Bookshelf)
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		AND	OR
Aliases
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(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
About This Section

Entrez Gene: 83700	HGNC: 15532	AceView: JAM3	Ensembl:ENSG00000166086	euGenes: HUgn83700
ECgene: JAM3	Kegg: 83700	H-InvDB: JAM3

(According to HUGE)
About This Section

(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section

Name	Description
PharmGKB entry for JAM3	Pharmacogenomics, SNPs, Pathways

Intellectual Property for JAM3 gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

About This Section

Patent Information for JAM3 gene:
Search GeneIP for patents involving JAM3

GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search

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junctional adhesion molecule 3

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junctional adhesion molecule 3

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