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

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Adrenocortical carcinoma, hereditary	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATTENTION DEFICIT HYPERACTIVITY DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTISTIC DISORDER	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CANNABIS DEPENDENCE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CNTN3-related disorder	Uncertain significance; Likely benign; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colon adenocarcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLORECTAL CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DERMATITIS, ALLERGIC CONTACT	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial pancreatic carcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GESTATIONAL DIABETES	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant lymphoma, large B-cell, diffuse	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PERIPHERAL ARTERIAL DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SUBSTANCE ABUSE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Anxiety	Anxiety Disorder	BEFREE	31070268, 31151706		★☆☆☆☆ Found in Text Mining only
Anxiety Disorders	Anxiety Disorder	BEFREE	31070268, 31151706		★☆☆☆☆ Found in Text Mining only
Aortic Aneurysm, Abdominal	Aortic Aneurysm	BEFREE	19497516		★☆☆☆☆ Found in Text Mining only
Arteriosclerosis	Arteriosclerosis	BEFREE	27796172		★☆☆☆☆ Found in Text Mining only
Astrocytoma	Astrocytoma	Pubtator	32647207	Associate	★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	BEFREE	27796172		★☆☆☆☆ Found in Text Mining only
Autistic Disorder	Autism	CTD_human_DG	18621663		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Breast Carcinoma	Breast Carcinoma	BEFREE	21570352, 21986093, 24074788, 25935582, 26590813, 28215665, 28369967, 28380313, 28766132, 30335191, 30475668, 31377477		★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	24339735	Associate	★☆☆☆☆ Found in Text Mining only
Carotid Stenosis	Carotid artery stenosis	Pubtator	26286632	Associate	★☆☆☆☆ Found in Text Mining only
Chronic kidney disease stage 5	Kidney Disease	BEFREE	28682731		★☆☆☆☆ Found in Text Mining only
Colitis	Colitis	BEFREE	27496677		★☆☆☆☆ Found in Text Mining only
Colitis Ulcerative	Ulcerative colitis	Pubtator	32566650	Associate	★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	32566650	Associate	★☆☆☆☆ Found in Text Mining only
Compression of spinal cord	Spinal cord compression	BEFREE	30939076		★☆☆☆☆ Found in Text Mining only
Cone-Rod Dystrophy 2	Cone-rod dystrophy	BEFREE	30939076		★☆☆☆☆ Found in Text Mining only
Coronary Disease	Coronary artery disease	Pubtator	27175642	Associate	★☆☆☆☆ Found in Text Mining only
Depressive disorder	Mental Depression	BEFREE	31070268, 31140392, 31151706, 31513106		★☆☆☆☆ Found in Text Mining only
Dermatitis, Allergic Contact	Dermatitis	CTD_human_DG	17597826		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Dry Eye Syndromes	Dry Eye Syndromes	BEFREE	31238545		★☆☆☆☆ Found in Text Mining only
Enthesitis	Enthesitis	BEFREE	31773391		★☆☆☆☆ Found in Text Mining only
Familial dilated cardiomyopathy	Cardiomyopathy	BEFREE	21930314		★☆☆☆☆ Found in Text Mining only
Freeman-Sheldon syndrome	Freeman-Sheldon Syndrome	BEFREE	29902472		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	31423255		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	32647207	Associate	★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	31423255		★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	BEFREE	27796172		★☆☆☆☆ Found in Text Mining only
Hypertrophic Cardiomyopathy	Hypertrophic cardiomyopathy	BEFREE	21930314		★☆☆☆☆ Found in Text Mining only
Kidney Diseases	Kidney Disease	BEFREE	30604210, 31190776		★☆☆☆☆ Found in Text Mining only
Kidney Failure, Chronic	Kidney Failure	BEFREE	28682731		★☆☆☆☆ Found in Text Mining only
Long QT Syndrome	Long QT Syndrome	BEFREE	21930314		★☆☆☆☆ Found in Text Mining only
Major Depressive Disorder	Mental Depression	BEFREE	28045352, 30406869		★☆☆☆☆ Found in Text Mining only
Malignant Childhood Neoplasm	Malignant Neoplasm	BEFREE	21389084		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	21570352, 21986093, 24074788, 25935582, 26590813, 28215665, 28369967, 28380313, 28766132, 30335191, 30475668, 31377477		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	29667174, 29673003, 30936740, 31239758, 31652778, 31755818		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	BEFREE	23897043		★☆☆☆☆ Found in Text Mining only
Mental Depression	Mental Depression	BEFREE	31070268, 31140392, 31151706, 31513106		★☆☆☆☆ Found in Text Mining only
Metabolic Syndrome X	Metabolic Syndrome	BEFREE	29112985, 30584433		★☆☆☆☆ Found in Text Mining only
Mixed anxiety and depressive disorder	Mixed Anxiety And Depressive Disorder	BEFREE	28898460, 31070268		★☆☆☆☆ Found in Text Mining only
mosaic variegated aneuploidy	Mosaic Variegated Aneuploidy	BEFREE	21389084, 9677059		★☆☆☆☆ Found in Text Mining only
Mosaic variegated aneuploidy syndrome 1	Mosaic Variegated Aneuploidy	BEFREE	21389084, 29673003		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	20633763, 25935582, 27302169		★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	BEFREE	31151706		★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	Pubtator	35805082	Associate	★☆☆☆☆ Found in Text Mining only
Obesity, Morbid	Obesity	BEFREE	31151706		★☆☆☆☆ Found in Text Mining only
Peripheral Arterial Diseases	Vascular Diseases	GWASCAT_DG	27082954		★☆☆☆☆ Found in Text Mining only
Post-Traumatic Stress Disorder	Stress Disorder	BEFREE	30909548, 31238545		★☆☆☆☆ Found in Text Mining only
Prolactinoma	Prolactinoma	BEFREE	30548674		★☆☆☆☆ Found in Text Mining only
Psoriasis	Psoriasis	BEFREE	28094756		★☆☆☆☆ Found in Text Mining only
Restless Legs Syndrome	Restless Legs Syndrome	BEFREE	29680420		★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	34201353	Associate	★☆☆☆☆ Found in Text Mining only
Trichohepatoenteric Syndrome	Trichohepatoenteric Syndrome	BEFREE	24344301		★☆☆☆☆ Found in Text Mining only
Tuberous Sclerosis	Tuberous sclerosis complex	Pubtator	35030990	Associate	★☆☆☆☆ Found in Text Mining only
VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1 (disorder)	Catecholaminergic polymorphic ventricular tachycardia	BEFREE	21930314		★☆☆☆☆ Found in Text Mining only