JAM3 (junctional adhesion molecule 3)

Gene

• Entrez ID: 83700
• Gene name: Junctional adhesion molecule 3
• Gene symbol: JAM3
• Synonyms (NCBI Gene): JAM-2, JAM-3, JAM-C, JAMC
• Chromosome: 11
• Chromosome location: 11q25
• 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.

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs397514678	T>C,G	Pathogenic	Missense variant, initiator codon variant
rs397515438	G>A	Pathogenic	Missense variant, coding sequence variant
rs397515439	G>A	Pathogenic	Missense variant, coding sequence variant, intron variant
rs761700427	G>T	Pathogenic	Splice donor variant
rs774867496	A>C,G,T	Pathogenic	Initiator codon variant, missense variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT1076343	hsa-miR-320a	CLIP-seq
MIRT1076344	hsa-miR-320b	CLIP-seq
MIRT1076345	hsa-miR-320c	CLIP-seq
MIRT1076346	hsa-miR-320d	CLIP-seq
MIRT1076347	hsa-miR-320e	CLIP-seq
MIRT1076348	hsa-miR-4429	CLIP-seq
MIRT1076349	hsa-miR-4700-3p	CLIP-seq
MIRT1076350	hsa-miR-4768-5p	CLIP-seq
MIRT1076351	hsa-miR-5095	CLIP-seq
MIRT1076352	hsa-miR-515-5p	CLIP-seq
MIRT1076353	hsa-miR-942	CLIP-seq
MIRT2018977	hsa-miR-3134	CLIP-seq
MIRT2018978	hsa-miR-4471	CLIP-seq
MIRT2018979	hsa-miR-4534	CLIP-seq
MIRT2018980	hsa-miR-4639-5p	CLIP-seq
MIRT2018981	hsa-miR-4802-5p	CLIP-seq
MIRT2250833	hsa-miR-23a	CLIP-seq
MIRT2250834	hsa-miR-23b	CLIP-seq
MIRT2250835	hsa-miR-23c	CLIP-seq
MIRT2018977	hsa-miR-3134	CLIP-seq
MIRT2018978	hsa-miR-4471	CLIP-seq
MIRT2018979	hsa-miR-4534	CLIP-seq
MIRT2018980	hsa-miR-4639-5p	CLIP-seq
MIRT2018981	hsa-miR-4802-5p	CLIP-seq
MIRT2554295	hsa-miR-4448	CLIP-seq
MIRT2554296	hsa-miR-485-5p	CLIP-seq
MIRT2554297	hsa-miR-10a	CLIP-seq
MIRT2554298	hsa-miR-10b	CLIP-seq
MIRT2554299	hsa-miR-1200	CLIP-seq
MIRT2554300	hsa-miR-1207-5p	CLIP-seq
MIRT2554301	hsa-miR-122	CLIP-seq
MIRT2554302	hsa-miR-1236	CLIP-seq
MIRT2554303	hsa-miR-1237	CLIP-seq
MIRT2554304	hsa-miR-1248	CLIP-seq
MIRT2554305	hsa-miR-128	CLIP-seq
MIRT2554306	hsa-miR-1294	CLIP-seq
MIRT2554307	hsa-miR-146a	CLIP-seq
MIRT2554308	hsa-miR-146b-5p	CLIP-seq
MIRT2554309	hsa-miR-1910	CLIP-seq
MIRT2554310	hsa-miR-214	CLIP-seq
MIRT2554311	hsa-miR-2467-5p	CLIP-seq
MIRT2554312	hsa-miR-31	CLIP-seq
MIRT2554313	hsa-miR-3120-3p	CLIP-seq
MIRT2554314	hsa-miR-3135b	CLIP-seq
MIRT2554315	hsa-miR-3150a-3p	CLIP-seq
MIRT2554316	hsa-miR-3173-3p	CLIP-seq
MIRT2554317	hsa-miR-3174	CLIP-seq
MIRT2554318	hsa-miR-3175	CLIP-seq
MIRT2554319	hsa-miR-3177-3p	CLIP-seq
MIRT2554320	hsa-miR-3183	CLIP-seq
MIRT2554321	hsa-miR-3188	CLIP-seq
MIRT2554322	hsa-miR-323b-5p	CLIP-seq
MIRT2554323	hsa-miR-338-3p	CLIP-seq
MIRT2554324	hsa-miR-3607-5p	CLIP-seq
MIRT2554325	hsa-miR-3619-5p	CLIP-seq
MIRT2554326	hsa-miR-3620	CLIP-seq
MIRT2554327	hsa-miR-3652	CLIP-seq
MIRT2554328	hsa-miR-3667-3p	CLIP-seq
MIRT2554329	hsa-miR-3925-3p	CLIP-seq
MIRT2554330	hsa-miR-3929	CLIP-seq
MIRT2554331	hsa-miR-3975	CLIP-seq
MIRT2554332	hsa-miR-4251	CLIP-seq
MIRT2554333	hsa-miR-4253	CLIP-seq
MIRT2554334	hsa-miR-4268	CLIP-seq
MIRT2554335	hsa-miR-4269	CLIP-seq
MIRT2554336	hsa-miR-4291	CLIP-seq
MIRT2554337	hsa-miR-4316	CLIP-seq
MIRT2554338	hsa-miR-4324	CLIP-seq
MIRT2554339	hsa-miR-4326	CLIP-seq
MIRT2554340	hsa-miR-4419b	CLIP-seq
MIRT2554341	hsa-miR-4430	CLIP-seq
MIRT2554295	hsa-miR-4448	CLIP-seq
MIRT2554342	hsa-miR-4478	CLIP-seq
MIRT2554343	hsa-miR-4514	CLIP-seq
MIRT2554344	hsa-miR-4520a-3p	CLIP-seq
MIRT2554345	hsa-miR-4520b-3p	CLIP-seq
MIRT2554346	hsa-miR-4530	CLIP-seq
MIRT2554347	hsa-miR-455-3p	CLIP-seq
MIRT2554348	hsa-miR-4635	CLIP-seq
MIRT2554349	hsa-miR-4645-5p	CLIP-seq
MIRT2554350	hsa-miR-4660	CLIP-seq
MIRT2554351	hsa-miR-4673	CLIP-seq
MIRT2554352	hsa-miR-4684-5p	CLIP-seq
MIRT2554353	hsa-miR-4692	CLIP-seq
MIRT2554354	hsa-miR-4695-5p	CLIP-seq
MIRT2554355	hsa-miR-4723-3p	CLIP-seq
MIRT2554356	hsa-miR-4724-3p	CLIP-seq
MIRT2554357	hsa-miR-4742-5p	CLIP-seq
MIRT2554358	hsa-miR-4761-3p	CLIP-seq
MIRT2554359	hsa-miR-4761-5p	CLIP-seq
MIRT2554360	hsa-miR-4763-3p	CLIP-seq
MIRT2554296	hsa-miR-485-5p	CLIP-seq
MIRT2554361	hsa-miR-491-5p	CLIP-seq
MIRT2554362	hsa-miR-495	CLIP-seq
MIRT2554363	hsa-miR-499a-5p	CLIP-seq
MIRT2554364	hsa-miR-502-5p	CLIP-seq
MIRT1076352	hsa-miR-515-5p	CLIP-seq
MIRT2554365	hsa-miR-544b	CLIP-seq
MIRT2554366	hsa-miR-549	CLIP-seq
MIRT2554367	hsa-miR-589	CLIP-seq
MIRT2554368	hsa-miR-624	CLIP-seq
MIRT2554369	hsa-miR-642a	CLIP-seq
MIRT2554370	hsa-miR-646	CLIP-seq
MIRT2554371	hsa-miR-659	CLIP-seq
MIRT2554372	hsa-miR-761	CLIP-seq
MIRT2554373	hsa-miR-766	CLIP-seq
MIRT2554374	hsa-miR-921	CLIP-seq
MIRT2554375	hsa-miR-922	CLIP-seq
MIRT2554376	hsa-miR-939	CLIP-seq
MIRT2554297	hsa-miR-10a	CLIP-seq
MIRT2554298	hsa-miR-10b	CLIP-seq
MIRT2554299	hsa-miR-1200	CLIP-seq
MIRT2554300	hsa-miR-1207-5p	CLIP-seq
MIRT2554301	hsa-miR-122	CLIP-seq
MIRT2554302	hsa-miR-1236	CLIP-seq
MIRT2554303	hsa-miR-1237	CLIP-seq
MIRT2554304	hsa-miR-1248	CLIP-seq
MIRT2554305	hsa-miR-128	CLIP-seq
MIRT2554306	hsa-miR-1294	CLIP-seq
MIRT2554307	hsa-miR-146a	CLIP-seq
MIRT2554308	hsa-miR-146b-5p	CLIP-seq
MIRT2554309	hsa-miR-1910	CLIP-seq
MIRT2554310	hsa-miR-214	CLIP-seq
MIRT2554311	hsa-miR-2467-5p	CLIP-seq
MIRT2554312	hsa-miR-31	CLIP-seq
MIRT2554313	hsa-miR-3120-3p	CLIP-seq
MIRT2554314	hsa-miR-3135b	CLIP-seq
MIRT2554315	hsa-miR-3150a-3p	CLIP-seq
MIRT2554316	hsa-miR-3173-3p	CLIP-seq
MIRT2554317	hsa-miR-3174	CLIP-seq
MIRT2554318	hsa-miR-3175	CLIP-seq
MIRT2554319	hsa-miR-3177-3p	CLIP-seq
MIRT2554320	hsa-miR-3183	CLIP-seq
MIRT2554321	hsa-miR-3188	CLIP-seq
MIRT2554323	hsa-miR-338-3p	CLIP-seq
MIRT2554324	hsa-miR-3607-5p	CLIP-seq
MIRT2554325	hsa-miR-3619-5p	CLIP-seq
MIRT2554326	hsa-miR-3620	CLIP-seq
MIRT2554327	hsa-miR-3652	CLIP-seq
MIRT2554328	hsa-miR-3667-3p	CLIP-seq
MIRT2683102	hsa-miR-3688-5p	CLIP-seq
MIRT2554329	hsa-miR-3925-3p	CLIP-seq
MIRT2554330	hsa-miR-3929	CLIP-seq
MIRT2554331	hsa-miR-3975	CLIP-seq
MIRT2554332	hsa-miR-4251	CLIP-seq
MIRT2554333	hsa-miR-4253	CLIP-seq
MIRT2554334	hsa-miR-4268	CLIP-seq
MIRT2554335	hsa-miR-4269	CLIP-seq
MIRT2554336	hsa-miR-4291	CLIP-seq
MIRT2554337	hsa-miR-4316	CLIP-seq
MIRT2554338	hsa-miR-4324	CLIP-seq
MIRT2554339	hsa-miR-4326	CLIP-seq
MIRT2554340	hsa-miR-4419b	CLIP-seq
MIRT2554341	hsa-miR-4430	CLIP-seq
MIRT2554295	hsa-miR-4448	CLIP-seq
MIRT2554342	hsa-miR-4478	CLIP-seq
MIRT2554343	hsa-miR-4514	CLIP-seq
MIRT2554344	hsa-miR-4520a-3p	CLIP-seq
MIRT2554345	hsa-miR-4520b-3p	CLIP-seq
MIRT2554346	hsa-miR-4530	CLIP-seq
MIRT2554347	hsa-miR-455-3p	CLIP-seq
MIRT2554349	hsa-miR-4645-5p	CLIP-seq
MIRT2554350	hsa-miR-4660	CLIP-seq
MIRT2554351	hsa-miR-4673	CLIP-seq
MIRT2554352	hsa-miR-4684-5p	CLIP-seq
MIRT2554353	hsa-miR-4692	CLIP-seq
MIRT2554354	hsa-miR-4695-5p	CLIP-seq
MIRT2554355	hsa-miR-4723-3p	CLIP-seq
MIRT2554356	hsa-miR-4724-3p	CLIP-seq
MIRT2554357	hsa-miR-4742-5p	CLIP-seq
MIRT2554358	hsa-miR-4761-3p	CLIP-seq
MIRT2554359	hsa-miR-4761-5p	CLIP-seq
MIRT2554360	hsa-miR-4763-3p	CLIP-seq
MIRT2554296	hsa-miR-485-5p	CLIP-seq
MIRT2554361	hsa-miR-491-5p	CLIP-seq
MIRT2554362	hsa-miR-495	CLIP-seq
MIRT2554363	hsa-miR-499a-5p	CLIP-seq
MIRT2554364	hsa-miR-502-5p	CLIP-seq
MIRT1076352	hsa-miR-515-5p	CLIP-seq
MIRT2554365	hsa-miR-544b	CLIP-seq
MIRT2554366	hsa-miR-549	CLIP-seq
MIRT2554367	hsa-miR-589	CLIP-seq
MIRT2554368	hsa-miR-624	CLIP-seq
MIRT2554369	hsa-miR-642a	CLIP-seq
MIRT2554370	hsa-miR-646	CLIP-seq
MIRT2554372	hsa-miR-761	CLIP-seq
MIRT2554373	hsa-miR-766	CLIP-seq
MIRT2554374	hsa-miR-921	CLIP-seq
MIRT2554375	hsa-miR-922	CLIP-seq
MIRT2554376	hsa-miR-939	CLIP-seq
MIRT2554295	hsa-miR-4448	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001525	Process	Angiogenesis	IDA	20592283
GO:0001780	Process	Neutrophil homeostasis	IEA
GO:0002250	Process	Adaptive immune response	IEA
GO:0002318	Process	Myeloid progenitor cell differentiation	IEA
GO:0002523	Process	Leukocyte migration involved in inflammatory response	IEA
GO:0002693	Process	Positive regulation of cellular extravasation	IMP	31926946
GO:0005178	Function	Integrin binding	IPI	12208882, 15194813, 19461049
GO:0005515	Function	Protein binding	IPI	11590146, 11823489, 19461049, 21982860, 32296183
GO:0005615	Component	Extracellular space	IDA	20592283
GO:0005794	Component	Golgi apparatus	IDA
GO:0005886	Component	Plasma membrane	IDA	19461049
GO:0005886	Component	Plasma membrane	TAS
GO:0005887	Component	Integral component of plasma membrane	IDA	11590146
GO:0005902	Component	Microvillus	IDA	19060272
GO:0005911	Component	Cell-cell junction	IMP	19461049
GO:0005923	Component	Bicellular tight junction	IDA	28196865
GO:0007160	Process	Cell-matrix adhesion	IEA
GO:0007286	Process	Spermatid development	IEA
GO:0019226	Process	Transmission of nerve impulse	IEA
GO:0030010	Process	Establishment of cell polarity	IEA
GO:0030057	Component	Desmosome	IDA	15194813
GO:0030198	Process	Extracellular matrix organization	TAS
GO:0031103	Process	Axon regeneration	IEA
GO:0031941	Component	Filamentous actin	IDA	19060272
GO:0033010	Component	Paranodal junction	IEA
GO:0033624	Process	Negative regulation of integrin activation	IMP	19461049
GO:0033629	Process	Negative regulation of cell adhesion mediated by integrin	IMP	19461049
GO:0034113	Process	Heterotypic cell-cell adhesion	IDA	12208882
GO:0034333	Process	Adherens junction assembly	IMP	19060272
GO:0034394	Process	Protein localization to cell surface	IMP	19060272
GO:0035633	Process	Maintenance of blood-brain barrier	NAS	30280653
GO:0042552	Process	Myelination	IEA
GO:0042803	Function	Protein homodimerization activity	IEA
GO:0043220	Component	Schmidt-Lanterman incisure	IEA
GO:0044291	Component	Cell-cell contact zone	IDA	15994945
GO:0045176	Process	Apical protein localization	IMP	19060272
GO:0046982	Function	Protein heterodimerization activity	IEA
GO:0050900	Process	Leukocyte migration	TAS
GO:0070160	Component	Tight junction	IDA	19060272
GO:0090022	Process	Regulation of neutrophil chemotaxis	IDA	15194813
GO:0090138	Process	Regulation of actin cytoskeleton organization by cell-cell adhesion	IEA
GO:0097241	Process	Hematopoietic stem cell migration to bone marrow	IMP	24357068
GO:0097530	Process	Granulocyte migration	IMP	19060272
GO:0098609	Process	Cell-cell adhesion	IDA	11823489, 19740376
GO:0098609	Process	Cell-cell adhesion	IMP	24357068
GO:0098632	Function	Cell-cell adhesion mediator activity	IDA	11823489, 19740376
GO:0098636	Component	Protein complex involved in cell adhesion	IDA	11590146
GO:1902414	Process	Protein localization to cell junction	IMP	19060272
GO:1905710	Process	Positive regulation of membrane permeability	IMP	31926946

Other IDs

• MIM: 606871
• HGNC: 15532
• e!Ensembl: ENSG00000166086

Protein

• UniProt ID: Q9BX67
• Protein name: Junctional adhesion molecule C (JAM-C) (JAM-2) (Junctional adhesion molecule 3) (JAM-3) [Cleaved into: Soluble form of JAM-C (sJAM-C)]
• Protein 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 ste
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF07686	V-set	36 → 136	Immunoglobulin V-set domain	Domain
  PF13927	Ig_3	138 → 223		Domain

• Tissue specificity: 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
• Sequence:

  MALRRPPRLRLCARLPDFFLLLLFRGCLIGAVNLKSSNRTPVVQEFESVELSCIITDSQT
  SDPRIEWKKIQDEQTTYVFFDNKIQGDLAGRAEILGKTSLKIWNVTRRDSALYRCEVVAR
  NDRKEIDEIVIELTVQVKPVTPVCRVPKAVPVGKMATLHCQESEGHPRPHYSWYRNDVPL
  PTDSRANPRFRNSSFHLNSETGTLVFTAVHKDDSGQYYCIASNDAGSARCEEQEMEVYDL
  NIGGIIGGVLVVLAVLALITLGICCAYRRGYFINNKQDGESYKNPGKPDGVNYIRTDEEG
  DFRHKSSFVI

• Sequence length: 310

Pathways

KEGG:

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

Reactome:

Cell surface interactions at the vascular wall
Integrin cell surface interactions

Associated diseases

Causal
Disease term	Disease name	dbSNP ID	References
Cataract	Cataract	rs118203965, rs118203966, rs104893685, rs121908938, rs104894175, rs121909048, rs28937573, rs121909049, rs121909050, rs74315488, rs80358200, rs80358203, rs121434643, rs56141211, rs132630322, rs121917775, rs121917735, rs121917736, rs137853199, rs137853200, rs121917867, rs121917869, rs121913555, rs104893736, rs121909595, rs121909596, rs121909597, rs28931605, rs121909598, rs104893618, rs1695062782, rs74315486, rs74315487, rs74315490, rs74315489, rs745938679, rs1566402656, rs74315439, rs74315441, rs121912973, rs121917823, rs1593332981, rs121917825, rs121917827, rs113994108, rs387906963, rs387906964, rs1240503246, rs387906965, rs387906966, rs750207077, rs387907336, rs387907337, rs387907342, rs140332366, rs397514703, rs398122937, rs398122378, rs398122392, rs398122944, rs137853924, rs398122947, rs397515623, rs397515624, rs397515625, rs397515626, rs398122948, rs587778872, rs398123066, rs587777601, rs370424081, rs786205221, rs786205222, rs864309684, rs864309688, rs864309701, rs864309689, rs864309690, rs864309681, rs864309686, rs864309696, rs864309693, rs864309687, rs864309691, rs864309692, rs864309695, rs864309678, rs864309685, rs864309700, rs864309698, rs864309683, rs864309682, rs864309679, rs111534978, rs864309680, rs864309702, rs864622780, rs756898971, rs869312732, rs775038545, rs878852983, rs1114167312, rs1114167313, rs1114167314, rs1114167315, rs1114167307, rs886041410, rs886041412, rs1057518738, rs1057517926, rs1057518878, rs1057519616, rs12799308, rs1064793935, rs1064797219, rs1085307126, rs1085307127, rs765628635, rs1114167427, rs1114167433, rs1554744860, rs1554743428, rs747093432, rs1411557416, rs1555179713, rs1481963503, rs1555549755, rs1456161420, rs1555547008, rs1555889308, rs1555888762, rs766522434, rs1264025914, rs1553585262, rs1567671947, rs1337897299, rs764945940, rs1307969607, rs949335475, rs1184095219, rs776129797, rs1569203234, rs1567668570, rs749141857, rs764098604, rs1184398243, rs1578956689, rs1568480054, rs1564745688, rs1564722302, rs1564723150, rs1571175950, rs1569602837, rs1576552712, rs1575369255, rs981126461, rs1570403798, rs200557771, rs1477743112, rs1651879427, rs1651881222, rs1651919374, rs2024441691, rs148284531, rs1246080692
Developmental delay	Global developmental delay	rs28941770, rs199469464, rs281865469, rs143747297, rs398123009, rs587777428, rs786205133, rs606231459, rs797044854, rs797045027, rs864309504, rs878853160, rs886039902, rs886042046, rs886041291, rs886041382, rs1057518991, rs1057518699, rs753254213, rs748294403, rs762552974, rs1135401795, rs1553121073, rs1553122926, rs1364690005, rs1554086554, rs1554210415, rs1554168326, rs1554776342, rs1553873247, rs1567860112, rs779009256, rs1557447255, rs1564568350, rs780011005, rs1597464953, rs1200336864, rs1569513017, rs1587459606, rs1570332505, rs748888652, rs1575155995, rs2087029320, rs1589669105, rs1601769604, rs1184981709, rs749201074
Porencephaly-microcephaly-bilateral congenital cataract syndrome	Porencephaly-microcephaly-bilateral congenital cataract syndrome	rs761700427, rs397515438, rs397515439, rs397514678, rs774867496, rs1942959311

Unknown
Disease term	Disease name	Evidence	References	Source
Schizophrenia	Schizophrenia			GWAS

Associations from Text Mining
Disease Name	Relationship Type	References
Abnormalities Drug Induced	Associate	33300604
Aicardi Goutieres syndrome	Associate	21109224
Arthritis Rheumatoid	Associate	18821692
Atherosclerosis	Associate	27573188
Atrial Fibrillation	Associate	36653368
Attention Deficit and Disruptive Behavior Disorders	Associate	27164683
Atypical Squamous Cells of the Cervix	Associate	39528979
Baraitser Brett Piesowicz syndrome	Associate	27164683
Breast Neoplasms	Associate	30146936
Calcinosis	Associate	23255084
Cataract	Associate	21109224, 23255084, 34292449
Cholangiocarcinoma	Associate	38124399
Epileptic Encephalopathy Early Infantile 3	Associate	34292449
Immunologic Deficiency Syndromes	Associate	34440371
Inflammation	Associate	28206970
Intracranial Hemorrhages	Associate	21109224
Lung Neoplasms	Associate	28196865
Meningioma	Associate	35818586
Microcephaly	Associate	27164683
Neoplasm Metastasis	Associate	28196865, 38124399
Neoplasms	Associate	26517242, 28196865, 30146936, 36782375, 38124399
Non alcoholic Fatty Liver Disease	Associate	28206970
Osteoarthritis	Associate	18821692
Psychomotor Disorders	Associate	27164683
Renal Insufficiency Chronic	Associate	34582968
Small Cell Lung Carcinoma	Associate	36990421
Squamous Intraepithelial Lesions	Associate	26517242, 38448375
Triple Negative Breast Neoplasms	Associate	30146936
Uterine Cervical Dysplasia	Stimulate	26517242
Uterine Cervical Neoplasms	Associate	26517242, 32576279
Uterine Cervicitis	Associate	38448375
Uterine Cervicitis	Stimulate	39528979