CNTN3 (contactin 3)

Gene

• Entrez ID: 5067
• Gene name: Contactin 3
• Gene symbol: CNTN3
• Synonyms (NCBI Gene): BIG-1, PANG, PCS
• Chromosome: 3
• Chromosome location: 3p12.3

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT901666	hsa-miR-129-5p	CLIP-seq
MIRT901667	hsa-miR-21	CLIP-seq
MIRT901668	hsa-miR-331-5p	CLIP-seq
MIRT901669	hsa-miR-3664-3p	CLIP-seq
MIRT901670	hsa-miR-383	CLIP-seq
MIRT901671	hsa-miR-4311	CLIP-seq
MIRT901672	hsa-miR-4464	CLIP-seq
MIRT901673	hsa-miR-4678	CLIP-seq
MIRT901674	hsa-miR-4727-5p	CLIP-seq
MIRT901675	hsa-miR-4748	CLIP-seq
MIRT901676	hsa-miR-4764-3p	CLIP-seq
MIRT901677	hsa-miR-4766-5p	CLIP-seq
MIRT901678	hsa-miR-4769-3p	CLIP-seq
MIRT901679	hsa-miR-4772-5p	CLIP-seq
MIRT901680	hsa-miR-4775	CLIP-seq
MIRT901681	hsa-miR-510	CLIP-seq
MIRT901682	hsa-miR-548aa	CLIP-seq
MIRT901683	hsa-miR-548ae	CLIP-seq
MIRT901684	hsa-miR-548aj	CLIP-seq
MIRT901685	hsa-miR-548am	CLIP-seq
MIRT901686	hsa-miR-548x	CLIP-seq
MIRT901687	hsa-miR-590-5p	CLIP-seq
MIRT901688	hsa-miR-873	CLIP-seq
MIRT1967472	hsa-miR-485-3p	CLIP-seq
MIRT2203181	hsa-miR-103a	CLIP-seq
MIRT2203182	hsa-miR-107	CLIP-seq
MIRT2203183	hsa-miR-15a	CLIP-seq
MIRT2203184	hsa-miR-15b	CLIP-seq
MIRT2203185	hsa-miR-16	CLIP-seq
MIRT2203186	hsa-miR-195	CLIP-seq
MIRT2203187	hsa-miR-424	CLIP-seq
MIRT2203188	hsa-miR-4524	CLIP-seq
MIRT2203189	hsa-miR-497	CLIP-seq
MIRT2203190	hsa-miR-503	CLIP-seq
MIRT2203191	hsa-miR-646	CLIP-seq
MIRT2386322	hsa-miR-3942-3p	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005576	Component	Extracellular region	TAS
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	TAS
GO:0007155	Process	Cell adhesion	IEA
GO:0016020	Component	Membrane	IEA
GO:0043005	Component	Neuron projection	IBA
GO:0098552	Component	Side of membrane	IEA

Other IDs

• MIM: 601325
• HGNC: 2173
• e!Ensembl: ENSG00000113805

Protein

• UniProt ID: Q9P232
• Protein name: Contactin-3 (Brain-derived immunoglobulin superfamily protein 1) (BIG-1) (Plasmacytoma-associated neuronal glycoprotein)
• Protein function: Contactins mediate cell surface interactions during nervous system development. Has some neurite outgrowth-promoting activity (By similarity).
• PDB: 1WJ3
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF13927	Ig_3	26 → 104		Domain
  PF13927	Ig_3	125 → 200		Domain
  PF13927	Ig_3	226 → 301		Domain
  PF07679	I-set	318 → 403	Immunoglobulin I-set domain	Domain
  PF07679	I-set	408 → 496	Immunoglobulin I-set domain	Domain
  PF13927	Ig_3	500 → 580		Domain
  PF00041	fn3	599 → 687	Fibronectin type III domain	Domain
  PF00041	fn3	702 → 790	Fibronectin type III domain	Domain
  PF00041	fn3	804 → 891	Fibronectin type III domain	Domain
  PF00041	fn3	904 → 986	Fibronectin type III domain	Domain

• Tissue specificity: TISSUE SPECIFICITY: In brain, it is expressed in frontal lobe, occipital lobe, cerebellum and amygdala. {ECO:0000269|PubMed:11013081}.
• Sequence:

  MMFPWKQLILLSFIGCLGGELLLQGPVFIKEPSNSIFPVGSEDKKITLHCEARGNPSPHY
  RWQLNGSDIDMSMEHRYKLNGGNLVVINPNRNWDTGTYQCFATNSLGTIVSREAKLQFAY
  LENFKTKMRSTVSVREGQGVVLLCGPPPHSGELSYAWIFNEYPSFVEEDSRRFVSQETGH
  LYISKVEPSDVGNYTCVVTSMVTNARVLGSPTPLVLRSDGVMGEYEPKIEVQFPETLPAA
  KGSTVKLECFALGNPIPQINWRRSDGLPFSSKIKLRKFSGVLEIPNFQQEDAGSYECIAE
  NSRGKNVARGRLTYYAKPHWVQLIKDVEIAVEDSLYWECRASGKPKPSYRWLKNGAALVL
  EERTQIENGALTISNLSVTDSGMFQCIAENKHGLVYSSAELKVVASAPDFSKNPMKKLVQ
  VQVGSLVSLDCKPRASPRALSSWKKGDVSVQEHERISLLNDGGLKIANVTKADAGTYTCM
  AENQFGKANGTTHLVVTEPTRITLAPSNMDVSVGESVILPCQVQHDPLLDIIFTWYFNGA
  LADFKKDGSHFEKVGGSSSGDLMIRNIQLKHSGKYVCMVQTGVDSVSSAADLIVRGSPGP
  PENVKVDEITDTTAQLSWKEGKDNHSPVISYSIQARTPFSVGWQTVTTVPEVIDGKTHTA
  TVVELNPWVEYEFRVVASNKIGGGEPSLPSEKVRTEEAVPEVPPSEVNGGGGSRSELVIT
  WDPVPEELQNGEGFGYVVAFRPLGVTTWIQTVVTSPDTPRYVFRNESIVPYSPYEVKVGV
  YNNKGEGPFSPVTTVFSAEEEPTVAPSQVSANSLSSSEIEVSWNTIPWKLSNGHLLGYEV
  RYWNGGGKEESSSKMKVAGNETSARLRGLKSNLAYYTAVRAYNSAGAGPFSATVNVTTKK
  TPPSQPPGNVVWNATDTKVLLNWEQVKAMENESEVTGYKVFYRTSSQNNVQVLNTNKTSA
  ELVLPIKEDYIIEVKATTDGGDGTSSEQIRIPRITSMDARGSTSAISNVHPMSSYMPIVL
  FLIVYVLW

• Sequence length: 1028

Pathways

Reactome:

Post-translational modification: synthesis of GPI-anchored proteins

Associated diseases

Unknown
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Adrenocortical carcinoma, hereditary	Benign	rs626578	RCV005935514
CNTN3-related disorder	Uncertain significance; Likely benign; Benign	rs1704334074, rs2471707273, rs1025779584, rs778468338, rs140530465, rs626578, rs1282558849, rs10490832, rs62620465, rs140108637, rs147055375, rs140717445, rs542742446, rs200992823, rs150713791, rs139861462, rs75253024, rs151030773, rs74507713, rs182676092	RCV003399710 RCV003399722 RCV003981463 RCV003903837 RCV003916837 RCV003964439 RCV003911418 RCV003981227 RCV003917043 RCV003927136 RCV003949330 RCV003959066 RCV003961926 RCV003932093 RCV003942198 RCV003915841 RCV003970746 RCV003936064 RCV003920611 RCV003918560
Colon adenocarcinoma	Benign	rs626578	RCV005935513
Familial pancreatic carcinoma	Benign	rs141921900	RCV005908004
Lung cancer	Benign	rs141921900	RCV005908008
Malignant lymphoma, large B-cell, diffuse	Benign	rs626578	RCV005935515
Ovarian cancer	Benign	rs141921900	RCV005908003
Ovarian serous cystadenocarcinoma	Benign	rs141921900	RCV005908005
Thymoma	Benign	rs626578, rs141921900	RCV005935517 RCV005908006
Thyroid cancer, nonmedullary, 1	Benign	rs141921900	RCV005908007
Uterine carcinosarcoma	Benign	rs626578	RCV005935516
Uterine corpus endometrial carcinoma	Benign	rs141921900	RCV005908009

Associations from Text Mining
Disease Name	Relationship Type	References
Adenocarcinoma of Lung	Associate	32672359
Adenoma	Associate	32566650
Aortic Aneurysm Familial Abdominal 1	Associate	19497516
Astrocytoma	Associate	32647207
Carcinoma Renal Cell	Associate	24339735
Colitis Ulcerative	Associate	32566650
Colorectal Neoplasms	Associate	32566650
Coronary Disease	Associate	27175642
Glioblastoma	Associate	32647207
Neoplasms	Associate	32566650
Squamous Cell Carcinoma of Head and Neck	Associate	34201353
Tuberous Sclerosis	Associate	35030990