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

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	152330
Gene name	Contactin 4
Gene symbol	CNTN4
Synonyms (NCBI Gene)	AXCAMBIG-2
Chromosome	3
Chromosome location	3p26.3-p26.2
Summary	This gene encodes a member of the contactin family of immunoglobulins. Contactins are axon-associated cell adhesion molecules that function in neuronal network formation and plasticity. The encoded protein is a glycosylphosphatidylinositol-anchored neuron

Show/Hide all (85)

miRTarBase ID	miRNA	Experiments	Reference
MIRT512617	hsa-miR-5586-3p	PAR-CLIP	23446348
MIRT512616	hsa-miR-340-3p	PAR-CLIP	23446348
MIRT512615	hsa-miR-6827-3p	PAR-CLIP	23446348
MIRT512614	hsa-miR-6742-3p	PAR-CLIP	23446348
MIRT512613	hsa-miR-6776-5p	PAR-CLIP	23446348
MIRT512612	hsa-miR-873-3p	PAR-CLIP	23446348
MIRT512611	hsa-miR-661	PAR-CLIP	23446348
MIRT512610	hsa-miR-4504	PAR-CLIP	23446348
MIRT512609	hsa-miR-3672	PAR-CLIP	23446348
MIRT512608	hsa-miR-6864-3p	PAR-CLIP	23446348
MIRT512607	hsa-miR-1262	PAR-CLIP	23446348
MIRT512606	hsa-miR-4701-3p	PAR-CLIP	23446348
MIRT512605	hsa-miR-6736-5p	PAR-CLIP	23446348
MIRT512607	hsa-miR-1262	PAR-CLIP	27292025
MIRT512616	hsa-miR-340-3p	PAR-CLIP	27292025
MIRT512609	hsa-miR-3672	PAR-CLIP	27292025
MIRT512610	hsa-miR-4504	PAR-CLIP	27292025
MIRT512606	hsa-miR-4701-3p	PAR-CLIP	27292025
MIRT512617	hsa-miR-5586-3p	PAR-CLIP	27292025
MIRT512611	hsa-miR-661	PAR-CLIP	27292025
MIRT512605	hsa-miR-6736-5p	PAR-CLIP	27292025
MIRT512614	hsa-miR-6742-3p	PAR-CLIP	27292025
MIRT512613	hsa-miR-6776-5p	PAR-CLIP	27292025
MIRT512615	hsa-miR-6827-3p	PAR-CLIP	27292025
MIRT512608	hsa-miR-6864-3p	PAR-CLIP	27292025
MIRT512612	hsa-miR-873-3p	PAR-CLIP	27292025
MIRT512617	hsa-miR-5586-3p	PAR-CLIP	23446348
MIRT512616	hsa-miR-340-3p	PAR-CLIP	23446348
MIRT512615	hsa-miR-6827-3p	PAR-CLIP	23446348
MIRT512614	hsa-miR-6742-3p	PAR-CLIP	23446348
MIRT512613	hsa-miR-6776-5p	PAR-CLIP	23446348
MIRT512612	hsa-miR-873-3p	PAR-CLIP	23446348
MIRT512611	hsa-miR-661	PAR-CLIP	23446348
MIRT512610	hsa-miR-4504	PAR-CLIP	23446348
MIRT512609	hsa-miR-3672	PAR-CLIP	23446348
MIRT512608	hsa-miR-6864-3p	PAR-CLIP	23446348
MIRT512607	hsa-miR-1262	PAR-CLIP	23446348
MIRT512606	hsa-miR-4701-3p	PAR-CLIP	23446348
MIRT512605	hsa-miR-6736-5p	PAR-CLIP	23446348
MIRT756402	hsa-miR-148a-3p	Luciferase reporter assayqRT-PCR	36544657
MIRT901689	hsa-miR-103a	CLIP-seq
MIRT901690	hsa-miR-107	CLIP-seq
MIRT901691	hsa-miR-1183	CLIP-seq
MIRT901692	hsa-miR-1224-5p	CLIP-seq
MIRT901693	hsa-miR-1244	CLIP-seq
MIRT901694	hsa-miR-1278	CLIP-seq
MIRT901695	hsa-miR-1304	CLIP-seq
MIRT901696	hsa-miR-200b	CLIP-seq
MIRT901697	hsa-miR-200c	CLIP-seq
MIRT901698	hsa-miR-203	CLIP-seq
MIRT901699	hsa-miR-2467-3p	CLIP-seq
MIRT901700	hsa-miR-338-5p	CLIP-seq
MIRT901701	hsa-miR-33a	CLIP-seq
MIRT901702	hsa-miR-33b	CLIP-seq
MIRT901703	hsa-miR-3678-3p	CLIP-seq
MIRT901704	hsa-miR-3915	CLIP-seq
MIRT901705	hsa-miR-3928	CLIP-seq
MIRT901706	hsa-miR-410	CLIP-seq
MIRT901707	hsa-miR-429	CLIP-seq
MIRT901708	hsa-miR-4424	CLIP-seq
MIRT901709	hsa-miR-4643	CLIP-seq
MIRT901710	hsa-miR-466	CLIP-seq
MIRT901711	hsa-miR-4666-5p	CLIP-seq
MIRT901712	hsa-miR-4689	CLIP-seq
MIRT901713	hsa-miR-4756-3p	CLIP-seq
MIRT901714	hsa-miR-4788	CLIP-seq
MIRT901715	hsa-miR-4789-3p	CLIP-seq
MIRT901716	hsa-miR-519a	CLIP-seq
MIRT901717	hsa-miR-519b-3p	CLIP-seq
MIRT901718	hsa-miR-519c-3p	CLIP-seq
MIRT901719	hsa-miR-656	CLIP-seq
MIRT901720	hsa-miR-885-3p	CLIP-seq
MIRT901693	hsa-miR-1244	CLIP-seq
MIRT901716	hsa-miR-519a	CLIP-seq
MIRT901717	hsa-miR-519b-3p	CLIP-seq
MIRT901718	hsa-miR-519c-3p	CLIP-seq
MIRT901689	hsa-miR-103a	CLIP-seq
MIRT901690	hsa-miR-107	CLIP-seq
MIRT901692	hsa-miR-1224-5p	CLIP-seq
MIRT901694	hsa-miR-1278	CLIP-seq
MIRT901695	hsa-miR-1304	CLIP-seq
MIRT901704	hsa-miR-3915	CLIP-seq
MIRT901705	hsa-miR-3928	CLIP-seq
MIRT901712	hsa-miR-4689	CLIP-seq
MIRT2203192	hsa-miR-616	CLIP-seq

Show/Hide all (26)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005576	Component	Extracellular region	IEA
GO:0005576	Component	Extracellular region	TAS
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	NAS	15106122
GO:0005886	Component	Plasma membrane	TAS
GO:0007155	Process	Cell adhesion	IEA
GO:0007156	Process	Homophilic cell adhesion via plasma membrane adhesion molecules	IBA
GO:0007158	Process	Neuron cell-cell adhesion	TAS	14571131
GO:0007399	Process	Nervous system development	IMP	15106122
GO:0007409	Process	Axonogenesis	TAS	14571131
GO:0007411	Process	Axon guidance	IBA
GO:0007411	Process	Axon guidance	TAS	15106122
GO:0007413	Process	Axonal fasciculation	TAS	15106122
GO:0007420	Process	Brain development	ISS
GO:0016020	Component	Membrane	IEA
GO:0030424	Component	Axon	IBA
GO:0030424	Component	Axon	NAS	14571131
GO:0031175	Process	Neuron projection development	ISS
GO:0045202	Component	Synapse	IBA
GO:0045665	Process	Negative regulation of neuron differentiation	IMP	14571131
GO:0048167	Process	Regulation of synaptic plasticity	TAS	15106122
GO:0050808	Process	Synapse organization	IBA
GO:0070593	Process	Dendrite self-avoidance	IBA
GO:0098552	Component	Side of membrane	IEA
GO:0098632	Function	Cell-cell adhesion mediator activity	IBA

MIM	HGNC	e!Ensembl
607280	2174	ENSG00000144619

Q8IWV2

Protein name

Contactin-4 (Brain-derived immunoglobulin superfamily protein 2) (BIG-2)

Protein function

Contactins mediate cell surface interactions during nervous system development. Has some neurite outgrowth-promoting activity. May be involved in synaptogenesis.

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF07679	I-set	26 → 118	Immunoglobulin I-set domain	Domain
PF13927	Ig_3	125 → 198		Domain
PF13927	Ig_3	224 → 299		Domain
PF07679	I-set	316 → 401	Immunoglobulin I-set domain	Domain
PF07679	I-set	406 → 494	Immunoglobulin I-set domain	Domain
PF13927	Ig_3	497 → 579		Domain
PF00041	fn3	598 → 686	Fibronectin type III domain	Domain
PF00041	fn3	803 → 889	Fibronectin type III domain	Domain

Tissue specificity

TISSUE SPECIFICITY: Mainly expressed in brain. Highly expressed in cerebellum and weakly expressed in corpus callosum, caudate nucleus, amygdala and spinal cord. Also expressed in testis, pancreas, thyroid, uterus, small intestine and kidney. Not expresse

Sequence

MRLPWELLVLQSFILCLADDSTLHGPIFIQEPSPVMFPLDSEEKKVKLNCEVKGNPKPHI
RWKLNGTDVDTGMDFRYSVVEGSLLINNPNKTQDAGTYQCTATNSFGTIVSREAKLQFAY
LDNFKTRTRSTVSVRRGQGMVLLCGPPPHSGELSYAWIFNEYPSYQDNRRFVSQETGNLY
IAKVEKSDVGNYTCVVTNTVTNHKVLGPPTPLILRNDGVMGEYEPKIEVQFPETVPTAKG
ATVKLECFALGNPVPTIIWRRADGKPIARKARRHKSNGILEIPNFQQEDAGLYECVAENS
RGKNVARGQLTFYAQPNWIQKINDIHVAMEENVFWECKANGRPKPTYKWLKNGEPLLTRD
RIQIEQGTLNITIVNLSDAGMYQCLAENKHGVIFSNAELSVIAVGPDFSRTLLKRVTLVK
VGGEVVIECKPKASPKPVYTWKKGRDILKENERITISEDGNLRIINVTKSDAGSYTCIAT
NHFGTASSTGNLVVKDPTRVMVPPSSMDVTVGESIVLPCQVTHDHSLDIVFTWSFNGHLI
DFDRDGDHFERVGGQDSAGDLMIRNIQLKHAGKYVCMVQTSVDRLSAAADLIVRGPPGPP
EAVTIDEITDTTAQLSWRPGPDNHSPITMYVIQARTPFSVGWQAVSTVPELIDGKTFTAT
VVGLNPWVEYEFRTVAANVIGIGEPSRPSEKRRTEEALPEVTPANVSGGGGSKSELVITW
ETVPEELQNGRGFGYVVAFRPYGKMIWMLTVLASADASRYVFRNESVHPFSPFEVKVGVF
NNKGEGPFSPTTVVYSAEEEPTKPPASIFARSLSATDIEVFWASPLEKNRGRIQGYEVKY
WRHEDKEENARKIRTVGNQTSTKITNLKGSVLYHLAVKAYNSAGTGPSSATVNVTTRKPP
PSQPPGNIIWNSSDSKIILNWDQVKALDNESEVKGYKVLYRWNRQSSTSVIETNKTSVEL
SLPFDEDYIIEIKPFSDGGDGSSSEQIRIPKISNAYARGSGASTSNACTLSAISTIMISL
TARSSL

Sequence length

1026

Interactions

View interactions

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

Show/Hide Unknown Diseases (12)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Cervical cancer	Benign	rs74726643	RCV005916904
Cholangiocarcinoma	Benign	rs7625369	RCV005924848
CNTN4-associated neurodevelopmental disorder	Uncertain significance	rs1254855756	RCV002227745
CNTN4-related disorder	Benign; Uncertain significance; Likely benign	rs339284, rs6800354, rs7639977, rs7629924, rs373660054, rs1157809059, rs760166481, rs901678946, rs2093987496, rs144260163, rs116041691, rs145270510, rs149729477, rs146888168, rs201626626, rs563513988, rs181710158 View all (2 more)	RCV003980741 RCV003980846 RCV003975850 RCV003976074 RCV003410384 RCV003414349 RCV003408349 RCV003911746 RCV003931814 RCV003937133 RCV003926038 RCV003960693 RCV003905952 RCV003902868 RCV003903070 RCV003950732 RCV003970574
Gastric cancer	Benign	rs74726643, rs7625369	RCV005916905 RCV005924847
Lip and oral cavity carcinoma	association	rs9849237	RCV000495843
Lung cancer	Benign	rs74726643	RCV005916906
Ovarian serous cystadenocarcinoma	Benign	rs9839775	RCV005917420
Thymoma	Benign	rs10510251	RCV005924602
Thyroid cancer, nonmedullary, 1	Benign	rs150478813	RCV005906498
Uterine carcinosarcoma	Benign	rs10510251	RCV005924601
Uterine corpus endometrial carcinoma	Benign	rs74726643	RCV005916907

Show/Hide Text Mining Associations (21)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Adenocarcinoma of Lung	Associate	33750346
Alcoholism	Associate	22205951
Attention Deficit Disorder with Hyperactivity	Associate	37120522
Autism Spectrum Disorder	Associate	18349135, 23715297
Autism Spectrum Disorder	Inhibit	37120522
Autistic Disorder	Associate	19404257, 21308999, 23715297, 24204716
Bipolar Disorder	Associate	22205951
Chromosome 3 monosomy 3p	Associate	15106122
Depressive Disorder	Associate	35907915
Developmental Disabilities	Associate	15106122, 18349135
Gastrointestinal Neoplasms	Associate	28044437
Glaucoma Open Angle	Associate	24764060
Glomerulonephritis Membranous	Associate	24345872
Intellectual Disability	Associate	18349135, 21457564, 23040932
Leiomyoma	Associate	34183386
Neoplasms	Associate	20233874, 35603200
Neuroblastoma	Associate	35902621
Neurologic Manifestations	Associate	23715297
Paraganglioma	Associate	35574028
Pulmonary Disease Chronic Obstructive	Associate	28044437
Schizophrenia	Associate	27668389

CNTN4 (contactin 4)