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

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	6900
Gene name	Contactin 2
Gene symbol	CNTN2
Synonyms (NCBI Gene)	AXTEPEO5FAME5TAG-1TAXTAX1
Chromosome	1
Chromosome location	1q32.1
Summary	This gene encodes a member of the contactin family of proteins, part of the immunoglobulin superfamily of cell adhesion molecules. The encoded glycosylphosphatidylinositol (GPI)-anchored neuronal membrane protein plays a role in the proliferation, migrati

Show/Hide all (6)

SNP ID	Visualize variation	Clinical significance	Consequence
rs139732336	C>T	Conflicting-interpretations-of-pathogenicity	Non coding transcript variant, missense variant, coding sequence variant
rs142502980	C>A,T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, non coding transcript variant, missense variant
rs145352110	C>A,T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant, non coding transcript variant, missense variant
rs398122387	G>-	Pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs1196223064	A>G	Likely-pathogenic	Splice acceptor variant
rs1553345874	G>C	Likely-pathogenic	Splice acceptor variant

161

Show/Hide all (161)

miRTarBase ID	miRNA	Experiments
MIRT901620	hsa-miR-1224-3p	CLIP-seq
MIRT901621	hsa-miR-1236	CLIP-seq
MIRT901622	hsa-miR-1251	CLIP-seq
MIRT901623	hsa-miR-1273d	CLIP-seq
MIRT901624	hsa-miR-148a	CLIP-seq
MIRT901625	hsa-miR-148b	CLIP-seq
MIRT901626	hsa-miR-152	CLIP-seq
MIRT901627	hsa-miR-1912	CLIP-seq
MIRT901628	hsa-miR-1915	CLIP-seq
MIRT901629	hsa-miR-218	CLIP-seq
MIRT901630	hsa-miR-2277-3p	CLIP-seq
MIRT901631	hsa-miR-2392	CLIP-seq
MIRT901632	hsa-miR-2467-3p	CLIP-seq
MIRT901633	hsa-miR-3135	CLIP-seq
MIRT901634	hsa-miR-3136-3p	CLIP-seq
MIRT901635	hsa-miR-3150b-3p	CLIP-seq
MIRT901636	hsa-miR-3174	CLIP-seq
MIRT901637	hsa-miR-3616-5p	CLIP-seq
MIRT901638	hsa-miR-3647-5p	CLIP-seq
MIRT901639	hsa-miR-3664-3p	CLIP-seq
MIRT901640	hsa-miR-3670	CLIP-seq
MIRT901641	hsa-miR-3960	CLIP-seq
MIRT901642	hsa-miR-4267	CLIP-seq
MIRT901643	hsa-miR-4318	CLIP-seq
MIRT901644	hsa-miR-4326	CLIP-seq
MIRT901645	hsa-miR-4420	CLIP-seq
MIRT901646	hsa-miR-4433	CLIP-seq
MIRT901647	hsa-miR-4474-3p	CLIP-seq
MIRT901648	hsa-miR-4514	CLIP-seq
MIRT901649	hsa-miR-4635	CLIP-seq
MIRT901650	hsa-miR-4645-5p	CLIP-seq
MIRT901651	hsa-miR-4653-3p	CLIP-seq
MIRT901652	hsa-miR-4673	CLIP-seq
MIRT901653	hsa-miR-4687-3p	CLIP-seq
MIRT901654	hsa-miR-4692	CLIP-seq
MIRT901655	hsa-miR-4697-3p	CLIP-seq
MIRT901656	hsa-miR-4722-5p	CLIP-seq
MIRT901657	hsa-miR-4726-3p	CLIP-seq
MIRT901658	hsa-miR-4774-3p	CLIP-seq
MIRT901659	hsa-miR-4780	CLIP-seq
MIRT901660	hsa-miR-4784	CLIP-seq
MIRT901661	hsa-miR-512-3p	CLIP-seq
MIRT901662	hsa-miR-542-5p	CLIP-seq
MIRT901663	hsa-miR-573	CLIP-seq
MIRT901664	hsa-miR-873	CLIP-seq
MIRT901665	hsa-miR-940	CLIP-seq
MIRT1967452	hsa-miR-1207-5p	CLIP-seq
MIRT901622	hsa-miR-1251	CLIP-seq
MIRT1967453	hsa-miR-1976	CLIP-seq
MIRT1967454	hsa-miR-3192	CLIP-seq
MIRT1967455	hsa-miR-3915	CLIP-seq
MIRT1967456	hsa-miR-3918	CLIP-seq
MIRT1967457	hsa-miR-3928	CLIP-seq
MIRT1967458	hsa-miR-4254	CLIP-seq
MIRT1967459	hsa-miR-4300	CLIP-seq
MIRT1967460	hsa-miR-4308	CLIP-seq
MIRT1967461	hsa-miR-4469	CLIP-seq
MIRT901648	hsa-miR-4514	CLIP-seq
MIRT1967462	hsa-miR-4529-5p	CLIP-seq
MIRT1967463	hsa-miR-4675	CLIP-seq
MIRT1967464	hsa-miR-4685-5p	CLIP-seq
MIRT901653	hsa-miR-4687-3p	CLIP-seq
MIRT1967465	hsa-miR-4690-5p	CLIP-seq
MIRT901654	hsa-miR-4692	CLIP-seq
MIRT1967466	hsa-miR-4722-3p	CLIP-seq
MIRT1967467	hsa-miR-4729	CLIP-seq
MIRT1967468	hsa-miR-4741	CLIP-seq
MIRT1967469	hsa-miR-4763-3p	CLIP-seq
MIRT1967470	hsa-miR-495	CLIP-seq
MIRT1967471	hsa-miR-920	CLIP-seq
MIRT901665	hsa-miR-940	CLIP-seq
MIRT2203137	hsa-miR-1205	CLIP-seq
MIRT2203138	hsa-miR-125a-5p	CLIP-seq
MIRT2203139	hsa-miR-125b	CLIP-seq
MIRT2203140	hsa-miR-1266	CLIP-seq
MIRT2203141	hsa-miR-1286	CLIP-seq
MIRT2203142	hsa-miR-1288	CLIP-seq
MIRT2203143	hsa-miR-1291	CLIP-seq
MIRT2203144	hsa-miR-1587	CLIP-seq
MIRT2203145	hsa-miR-216a	CLIP-seq
MIRT2203146	hsa-miR-24	CLIP-seq
MIRT2203147	hsa-miR-3064-5p	CLIP-seq
MIRT2203148	hsa-miR-3117-3p	CLIP-seq
MIRT901633	hsa-miR-3135	CLIP-seq
MIRT2203149	hsa-miR-3155	CLIP-seq
MIRT2203150	hsa-miR-3155b	CLIP-seq
MIRT2203151	hsa-miR-3169	CLIP-seq
MIRT2203152	hsa-miR-328	CLIP-seq
MIRT2203153	hsa-miR-3652	CLIP-seq
MIRT901639	hsa-miR-3664-3p	CLIP-seq
MIRT2203154	hsa-miR-378g	CLIP-seq
MIRT2203155	hsa-miR-4270	CLIP-seq
MIRT2203156	hsa-miR-4283	CLIP-seq
MIRT2203157	hsa-miR-4319	CLIP-seq
MIRT2203158	hsa-miR-4430	CLIP-seq
MIRT2203159	hsa-miR-4437	CLIP-seq
MIRT2203160	hsa-miR-4438	CLIP-seq
MIRT2203161	hsa-miR-4441	CLIP-seq
MIRT2203162	hsa-miR-4459	CLIP-seq
MIRT2203163	hsa-miR-4464	CLIP-seq
MIRT2203164	hsa-miR-4489	CLIP-seq
MIRT2203165	hsa-miR-4492	CLIP-seq
MIRT2203166	hsa-miR-4498	CLIP-seq
MIRT2203167	hsa-miR-4505	CLIP-seq
MIRT2203168	hsa-miR-4518	CLIP-seq
MIRT2203169	hsa-miR-4656	CLIP-seq
MIRT1967463	hsa-miR-4675	CLIP-seq
MIRT901653	hsa-miR-4687-3p	CLIP-seq
MIRT901656	hsa-miR-4722-5p	CLIP-seq
MIRT1967467	hsa-miR-4729	CLIP-seq
MIRT2203170	hsa-miR-4731-5p	CLIP-seq
MIRT1967468	hsa-miR-4741	CLIP-seq
MIRT2203171	hsa-miR-4748	CLIP-seq
MIRT2203172	hsa-miR-4759	CLIP-seq
MIRT2203173	hsa-miR-484	CLIP-seq
MIRT2203174	hsa-miR-485-5p	CLIP-seq
MIRT2203175	hsa-miR-5095	CLIP-seq
MIRT2203176	hsa-miR-513c	CLIP-seq
MIRT2203177	hsa-miR-514b-5p	CLIP-seq
MIRT2203178	hsa-miR-665	CLIP-seq
MIRT2203179	hsa-miR-671-5p	CLIP-seq
MIRT2203180	hsa-miR-762	CLIP-seq
MIRT901664	hsa-miR-873	CLIP-seq
MIRT2386314	hsa-miR-103a	CLIP-seq
MIRT2386315	hsa-miR-107	CLIP-seq
MIRT2386316	hsa-miR-1276	CLIP-seq
MIRT2386317	hsa-miR-1827	CLIP-seq
MIRT2386318	hsa-miR-3157-3p	CLIP-seq
MIRT1967454	hsa-miR-3192	CLIP-seq
MIRT1967459	hsa-miR-4300	CLIP-seq
MIRT2386319	hsa-miR-4311	CLIP-seq
MIRT2386320	hsa-miR-4744	CLIP-seq
MIRT2386321	hsa-miR-583	CLIP-seq
MIRT1967471	hsa-miR-920	CLIP-seq
MIRT2203149	hsa-miR-3155	CLIP-seq
MIRT2203150	hsa-miR-3155b	CLIP-seq
MIRT2447415	hsa-miR-4269	CLIP-seq
MIRT901648	hsa-miR-4514	CLIP-seq
MIRT901654	hsa-miR-4692	CLIP-seq
MIRT901656	hsa-miR-4722-5p	CLIP-seq
MIRT2447416	hsa-miR-4742-5p	CLIP-seq
MIRT2203173	hsa-miR-484	CLIP-seq
MIRT2447417	hsa-miR-635	CLIP-seq
MIRT901665	hsa-miR-940	CLIP-seq
MIRT901648	hsa-miR-4514	CLIP-seq
MIRT901654	hsa-miR-4692	CLIP-seq
MIRT901656	hsa-miR-4722-5p	CLIP-seq
MIRT2447417	hsa-miR-635	CLIP-seq
MIRT901665	hsa-miR-940	CLIP-seq
MIRT2506147	hsa-miR-4435	CLIP-seq
MIRT2203162	hsa-miR-4459	CLIP-seq
MIRT2506148	hsa-miR-4640-5p	CLIP-seq
MIRT2506149	hsa-miR-4726-5p	CLIP-seq
MIRT2506150	hsa-miR-4779	CLIP-seq
MIRT2203178	hsa-miR-665	CLIP-seq
MIRT2506147	hsa-miR-4435	CLIP-seq
MIRT2203162	hsa-miR-4459	CLIP-seq
MIRT2506148	hsa-miR-4640-5p	CLIP-seq
MIRT2506149	hsa-miR-4726-5p	CLIP-seq
MIRT2506150	hsa-miR-4779	CLIP-seq
MIRT2203178	hsa-miR-665	CLIP-seq

Show/Hide all (62)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000226	Process	Microtubule cytoskeleton organization	IEA
GO:0001764	Process	Neuron migration	IEA
GO:0001973	Process	G protein-coupled adenosine receptor signaling pathway	IEA
GO:0002021	Process	Response to dietary excess	IEA
GO:0002023	Process	Reduction of food intake in response to dietary excess	IEA
GO:0005515	Function	Protein binding	IPI	32814053
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	ISS
GO:0005886	Component	Plasma membrane	TAS	8425542
GO:0007155	Process	Cell adhesion	IEA
GO:0007155	Process	Cell adhesion	NAS	8425542
GO:0007156	Process	Homophilic cell adhesion via plasma membrane adhesion molecules	IBA
GO:0007411	Process	Axon guidance	IBA
GO:0007411	Process	Axon guidance	IEA
GO:0007413	Process	Axonal fasciculation	IEA
GO:0007612	Process	Learning	IEA
GO:0007628	Process	Adult walking behavior	IEA
GO:0009986	Component	Cell surface	IEA
GO:0010954	Process	Positive regulation of protein processing	IEA
GO:0016020	Component	Membrane	IEA
GO:0016485	Process	Protein processing	IEA
GO:0021853	Process	Cerebral cortex GABAergic interneuron migration	IEA
GO:0021953	Process	Central nervous system neuron differentiation	IEA
GO:0022010	Process	Central nervous system myelination	IEA
GO:0022604	Process	Regulation of cell morphogenesis	IEA
GO:0030246	Function	Carbohydrate binding	IEA
GO:0030424	Component	Axon	IBA
GO:0030424	Component	Axon	IEA
GO:0031133	Process	Regulation of axon diameter	IEA
GO:0031175	Process	Neuron projection development	IEA
GO:0031623	Process	Receptor internalization	IEA
GO:0033268	Component	Node of Ranvier	IEA
GO:0033268	Component	Node of Ranvier	ISS
GO:0043005	Component	Neuron projection	IEA
GO:0043025	Component	Neuronal cell body	IEA
GO:0043194	Component	Axon initial segment	IEA
GO:0043209	Component	Myelin sheath	IEA
GO:0043209	Component	Myelin sheath	ISS
GO:0044224	Component	Juxtaparanode region of axon	IEA
GO:0044224	Component	Juxtaparanode region of axon	ISS
GO:0045163	Process	Clustering of voltage-gated potassium channels	IEA
GO:0045163	Process	Clustering of voltage-gated potassium channels	ISS
GO:0045202	Component	Synapse	IBA
GO:0045202	Component	Synapse	ISS
GO:0045211	Component	Postsynaptic membrane	IDA	26217189
GO:0045211	Component	Postsynaptic membrane	IMP	26217189
GO:0045444	Process	Fat cell differentiation	IEA
GO:0045665	Process	Negative regulation of neuron differentiation	IEA
GO:0048168	Process	Regulation of neuronal synaptic plasticity	IEA
GO:0048710	Process	Regulation of astrocyte differentiation	IEA
GO:0050808	Process	Synapse organization	IBA
GO:0051649	Process	Establishment of localization in cell	IEA
GO:0060168	Process	Positive regulation of adenosine receptor signaling pathway	IEA
GO:0070593	Process	Dendrite self-avoidance	IBA
GO:0071205	Process	Protein localization to juxtaparanode region of axon	IEA
GO:0071205	Process	Protein localization to juxtaparanode region of axon	ISS
GO:0071206	Process	Establishment of protein localization to juxtaparanode region of axon	IEA
GO:0097090	Process	Presynaptic membrane organization	IMP	23518707
GO:0098552	Component	Side of membrane	IEA
GO:0098631	Function	Cell adhesion mediator activity	IEA
GO:0098632	Function	Cell-cell adhesion mediator activity	IBA

MIM	HGNC	e!Ensembl
190197	2172	ENSG00000184144

Q02246

Protein name

Contactin-2 (Axonal glycoprotein TAG-1) (Axonin-1) (Transient axonal glycoprotein 1) (TAX-1)

Protein function

In conjunction with another transmembrane protein, CNTNAP2, contributes to the organization of axonal domains at nodes of Ranvier by maintaining voltage-gated potassium channels at the juxtaparanodal region. May be involved in cell adhesion. {EC

PDB

2OM5 , 8K3J , 8K53 , 9BA4 , 9BA5

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF13927	Ig_3	37 → 115		Domain
PF13927	Ig_3	238 → 310		Domain
PF07679	I-set	327 → 412	Immunoglobulin I-set domain	Domain
PF07679	I-set	421 → 505	Immunoglobulin I-set domain	Domain
PF13927	Ig_3	510 → 591		Domain
PF00041	fn3	609 → 697	Fibronectin type III domain	Domain
PF00041	fn3	712 → 800	Fibronectin type III domain	Domain
PF00041	fn3	814 → 900	Fibronectin type III domain	Domain

Sequence

MGTATRRKPHLLLVAAVALVSSSAWSSALGSQTTFGPVFEDQPLSVLFPEESTEEQVLLA
CRARASPPATYRWKMNGTEMKLEPGSRHQLVGGNLVIMNPTKAQDAGVYQCLASNPVGTV
VSREAILRFGFLQEFSKEERDPVKAHEGWGVMLPCNPPAHYPGLSYRWLLNEFPNFIPTD
GRHFVSQTTGNLYIARTNASDLGNYSCLATSHMDFSTKSVFSKFAQLNLAAEDTRLFAPS
IKARFPAETYALVGQQVTLECFAFGNPVPRIKWRKVDGSLSPQWTTAEPTLQIPSVSFED
EGTYECEAENSKGRDTVQGRIIVQAQPEWLKVISDTEADIGSNLRWGCAAAGKPRPTVRW
LRNGEPLASQNRVEVLAGDLRFSKLSLEDSGMYQCVAENKHGTIYASAELAVQALAPDFR
LNPVRRLIPAARGGEILIPCQPRAAPKAVVLWSKGTEILVNSSRVTVTPDGTLIIRNISR
SDEGKYTCFAENFMGKANSTGILSVRDATKITLAPSSADINLGDNLTLQCHASHDPTMDL
TFTWTLDDFPIDFDKPGGHYRRTNVKETIGDLTILNAQLRHGGKYTCMAQTVVDSASKEA
TVLVRGPPGPPGGVVVRDIGDTTIQLSWSRGFDNHSPIAKYTLQARTPPAGKWKQVRTNP
ANIEGNAETAQVLGLTPWMDYEFRVIASNILGTGEPSGPSSKIRTREAAPSVAPSGLSGG
GGAPGELIVNWTPMSREYQNGDGFGYLLSFRRQGSTHWQTARVPGADAQYFVYSNESVRP
YTPFEVKIRSYNRRGDGPESLTALVYSAEEEPRVAPTKVWAKGVSSSEMNVTWEPVQQDM
NGILLGYEIRYWKAGDKEAAADRVRTAGLDTSARVSGLHPNTKYHVTVRAYNRAGTGPAS
PSANATTMKPPPRRPPGNISWTFSSSSLSIKWDPVVPFRNESAVTGYKMLYQNDLHLTPT
LHLTGKNWIEIPVPEDIGHALVQIRTTGPGGDGIPAEVHIVRNGGTSMMVENMAVRPAPH
PGTVISHSVAMLILIGSLEL

Sequence length

1040

Interactions

View interactions

	KEGG
	Cell adhesion molecules

755

Show/Hide Causal Diseases (1)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Epilepsy, familial adult myoclonic, 5	Likely pathogenic; Pathogenic	rs1202358073, rs531184069, rs768608238, rs763392794, rs2151200415, rs2151192841, rs113709347, rs2151200083, rs2151198133, rs867618155, rs1553347743, rs779892361, rs2526413187, rs1446948758, rs2526418181 View all (13 more)	RCV001379477 RCV001381853 RCV001924037 RCV001968931 RCV001932440 RCV001915884 RCV002005773 RCV001946852 RCV002048432 RCV002052268 RCV002628117 RCV002667041 RCV003006021 RCV003045952 RCV003047684 RCV003582188 RCV003583131 RCV003741683 RCV003741697 RCV003741903 RCV003741900 RCV003742581 RCV004525817 RCV001809470 RCV000651694 RCV000054805 RCV003741242 RCV001871613

Show/Hide Unknown Diseases (6)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Acute myeloid leukemia	Benign	rs114050151	RCV005909681
CNTN2-related disorder	Likely benign; Conflicting classifications of pathogenicity; Benign; Uncertain significance	rs141466578, rs2526383907, rs145352110, rs142502980, rs149630443, rs147693556, rs144056952, rs147074435, rs566959580, rs370377460, rs144767577, rs149564430, rs144293383, rs147493920	RCV003980390 RCV003981595 RCV003942596 RCV003942678 RCV003952855 RCV003925694 RCV003945308 RCV003952854 RCV003918066 RCV003928122 RCV003953246 RCV003903224 RCV003960630 RCV003977949
Epilepsy, familial adult myoclonic, 1	Uncertain significance	rs148801784	RCV005863208
Gastric cancer	Benign	rs114050151	RCV005909683
Malignant tumor of esophagus	Benign	rs114050151	RCV005909682
Ovarian serous cystadenocarcinoma	Benign	rs114903768	RCV005897039

Show/Hide Text Mining Associations (29)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Adenocarcinoma of Lung	Associate	30353687
Alzheimer Disease	Associate	29859129
Astrocytoma	Associate	17121800
Breast Neoplasms	Associate	19472191
Carcinoma Hepatocellular	Associate	19472191
Carcinoma Lewis Lung	Associate	32806791
Cognition Disorders	Associate	29859129
Colorectal Neoplasms	Associate	19472191
Deltaretrovirus Infections	Associate	22911729
Depressive Disorder	Associate	35870967
Drug Related Side Effects and Adverse Reactions	Associate	11046153, 31299491
Genomic Instability	Associate	31299491
Heredodegenerative Disorders Nervous System	Associate	9261427
Inflammation	Stimulate	26829041
Leukemia Lymphoma Adult T Cell	Associate	20237090, 23279616, 2787512, 33626865, 8095337
Leukemia Lymphoma Adult T Cell	Stimulate	26829041, 39529101
Lewy Body Disease	Associate	32806791
Muscular Atrophy	Stimulate	16314474
Muscular Diseases	Associate	16314474
Neoplasms	Inhibit	16973592
Neoplasms	Stimulate	19472191
Neoplasms	Associate	23279616, 30353687, 36871023
Oligodendroglioma	Associate	25351872
Ovarian Neoplasms	Inhibit	39972314
Paraparesis Tropical Spastic	Associate	17121800, 9261427
Polycystic Ovary Syndrome	Associate	39754246
Retinoblastoma	Associate	8230424
Schizophrenia	Inhibit	36482464
Squamous Cell Carcinoma of Head and Neck	Associate	37105033

CNTN2 (contactin 2)