Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	5067
Gene name Gene Name - the full gene name approved by the HGNC.	Contactin 3
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	CNTN3
Synonyms (NCBI Gene) Gene synonyms aliases	BIG-1, PANG, PCS
Disease Acronyms (UniProt) Disease acronyms from UniProt database	PCS
Chromosome Chromosome number	3
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	3p12.3

Show/Hide all(36)

miRTarBase ID	miRNA	Experiments
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

Show/Hide all(6)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005576	Component	Extracellular region	TAS
GO:0005886	Component	Plasma membrane	TAS
GO:0007155	Process	Cell adhesion	IEA
GO:0007399	Process	Nervous system development	IEA
GO:0031225	Component	Anchored component of membrane	IEA
GO:0043005	Component	Neuron projection	IBA	21873635

MIM	HGNC	e!Ensembl
601325	2173	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

Interactions

View interactions

	Reactome
			Post-translational modification: synthesis of GPI-anchored proteins

Show/Hide Causal Diseases (2)

Disease term	Disease name	dbSNP ID	References
Causal
Autism	Autistic Disorder	rs121964908, rs62643608, rs181327458, rs797046134, rs869312704, rs1555013332, rs876657679, rs1057518999, rs1057518658, rs771827120, rs1555187899, rs773080572, rs753871454, rs1684130791, rs1684180699 View all (8 more)	18621663
Dermatitis	Dermatitis, Allergic Contact	rs61816761, rs150597413, rs138726443, rs201356558, rs149484917, rs372754256, rs747301529, rs567795279, rs745915174	17597826

Show/Hide Unknown Diseases (2)

Disease term	Disease name	Evidence	Source
Unknown
Frontal Fibrosing Alopecia	Frontal Fibrosing Alopecia		GWAS
Colorectal Cancer	Colorectal Cancer	In summary, our data strongly demonstrated that upregulation of GRB7 conferred MEKi resistance in CRC cells with KRAS mutations by mediating RTK signaling through the recruitment of PLK1.	GWAS, CBGDA

Show/Hide Text Mining Associations (12)

Disease Name	Relationship Type	References
Associations from Text Mining
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

CNTN3 (contactin 3)