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

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	26047
Gene name	Contactin associated protein 2
Gene symbol	CNTNAP2
Synonyms (NCBI Gene)	AUTS15CASPR2CDFENRXN4PTHSL1
Chromosome	7
Chromosome location	7q35-q36.1
Summary	This gene encodes a member of the neurexin family which functions in the vertebrate nervous system as cell adhesion molecules and receptors. This protein, like other neurexin proteins, contains epidermal growth factor repeats and laminin G domains. In add

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SNP ID	Visualize variation	Clinical significance	Consequence
rs2710102	A>G,T	Risk-factor	Intron variant, genic downstream transcript variant
rs7794745	A>T	Risk-factor	Intron variant
rs73464271	G>A	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Genic downstream transcript variant, missense variant, coding sequence variant
rs78223661	T>G	Conflicting-interpretations-of-pathogenicity	Intron variant
rs121908445	T>C	Risk-factor, conflicting-interpretations-of-pathogenicity	Genic downstream transcript variant, missense variant, coding sequence variant
rs138481453	T>C	Conflicting-interpretations-of-pathogenicity	Genic downstream transcript variant, missense variant, coding sequence variant
rs141439475	T>A,C	Benign-likely-benign, likely-benign, conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs141831869	C>T	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs143286960	C>T	Benign, conflicting-interpretations-of-pathogenicity, likely-benign	Synonymous variant, genic downstream transcript variant, coding sequence variant
rs144003099	C>A,T	Pathogenic	Synonymous variant, genic downstream transcript variant, stop gained, coding sequence variant
rs145162968	C>A,T	Benign, conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant, missense variant
rs146225600	C>A,G	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Genic downstream transcript variant, coding sequence variant, missense variant
rs147815978	G>T	Pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs148104020	G>A	Benign-likely-benign, conflicting-interpretations-of-pathogenicity, likely-benign	Synonymous variant, genic downstream transcript variant, coding sequence variant
rs148453565	T>C	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Genic downstream transcript variant, coding sequence variant, missense variant
rs149032771	G>A,T	Uncertain-significance, pathogenic	Coding sequence variant, missense variant, stop gained
rs149185385	T>C	Benign-likely-benign, uncertain-significance, conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, synonymous variant, genic downstream transcript variant
rs150607716	A>G	Conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, synonymous variant
rs187552025	C>A,T	Conflicting-interpretations-of-pathogenicity, uncertain-significance, likely-benign	Synonymous variant, missense variant, coding sequence variant, genic downstream transcript variant
rs189731792	G>A	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs200866893	G>A	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, coding sequence variant
rs201076428	C>A,G,T	Pathogenic, uncertain-significance, likely-benign	Synonymous variant, missense variant, coding sequence variant, stop gained
rs201311931	A>G	Conflicting-interpretations-of-pathogenicity, likely-benign	Intron variant
rs201326295	T>C	Conflicting-interpretations-of-pathogenicity, likely-benign	Missense variant, coding sequence variant
rs201446615	C>A	Pathogenic, uncertain-significance	Missense variant, coding sequence variant, genic downstream transcript variant
rs202095023	C>T	Conflicting-interpretations-of-pathogenicity	Missense variant, genic downstream transcript variant, coding sequence variant
rs267601384	G>A,C	Likely-pathogenic, uncertain-significance	Missense variant, coding sequence variant, stop gained
rs368108883	C>T	Conflicting-interpretations-of-pathogenicity, likely-benign	Synonymous variant, genic downstream transcript variant, coding sequence variant
rs369675346	C>A,T	Pathogenic, conflicting-interpretations-of-pathogenicity, benign-likely-benign, likely-benign, uncertain-significance	Intron variant
rs370095062	T>C	Conflicting-interpretations-of-pathogenicity, likely-benign, benign	Synonymous variant, coding sequence variant
rs371642222	C>T	Pathogenic	Genic downstream transcript variant, coding sequence variant, stop gained
rs371839994	G>A	Conflicting-interpretations-of-pathogenicity, likely-benign, uncertain-significance	Missense variant, coding sequence variant
rs372645983	G>A,C	Conflicting-interpretations-of-pathogenicity, likely-benign	Synonymous variant, genic downstream transcript variant, coding sequence variant
rs398124268	G>A,T	Pathogenic	Stop gained, genic downstream transcript variant, missense variant, coding sequence variant
rs535454043	G>A,C	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Synonymous variant, missense variant, coding sequence variant
rs562833882	T>C,G	Likely-pathogenic	Stop gained, coding sequence variant, genic downstream transcript variant, synonymous variant
rs730880276	G>T	Pathogenic	Splice acceptor variant
rs748908765	C>A	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs752550849	C>G,T	Pathogenic	Stop gained, coding sequence variant, missense variant
rs758630057	G>A	Conflicting-interpretations-of-pathogenicity, uncertain-significance, pathogenic	Genic downstream transcript variant, coding sequence variant, missense variant
rs760930032	A>G	Uncertain-significance, pathogenic	Genic downstream transcript variant, coding sequence variant, missense variant
rs770951811	G>A	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Intron variant
rs773595457	T>C	Conflicting-interpretations-of-pathogenicity, benign	Coding sequence variant, synonymous variant
rs774328147	C>T	Conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, synonymous variant
rs796052374	C>G	Pathogenic	Coding sequence variant, stop gained
rs796052388	A>-	Pathogenic	Coding sequence variant, frameshift variant
rs972116002	G>A	Pathogenic	Splice donor variant
rs1057520549	C>T	Pathogenic	Stop gained, coding sequence variant
rs1057520743	C>G	Pathogenic	Stop gained, coding sequence variant
rs1064796071	AT>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1064796221	AGTGACACAGCTC>-	Pathogenic	Coding sequence variant, frameshift variant
rs1085307838	A>C	Likely-pathogenic	Genic downstream transcript variant, splice acceptor variant
rs1159246607	C>T	Likely-pathogenic	Stop gained, genic downstream transcript variant, coding sequence variant
rs1391540245	T>-	Pathogenic	Coding sequence variant, genic downstream transcript variant, frameshift variant
rs1554400338	C>-	Pathogenic	Genic downstream transcript variant, coding sequence variant, frameshift variant
rs1554416016	->C	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1554440668	TATGG>GGGA	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1554490549	TG>-	Pathogenic	Coding sequence variant, stop gained, inframe indel
rs1584848275	T>-	Pathogenic	Coding sequence variant, frameshift variant
rs1585020100	CAAGTACTACT>-	Pathogenic	Frameshift variant, coding sequence variant, genic downstream transcript variant
rs1585151371	TCCT>CCC	Likely-pathogenic	Frameshift variant, coding sequence variant, genic downstream transcript variant

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miRTarBase ID	miRNA	Experiments	Reference
MIRT024222	hsa-miR-218-5p	Sequencing	20371350
MIRT044172	hsa-miR-99b-5p	CLASH	23622248
MIRT573937	hsa-miR-548u	PAR-CLIP	20371350
MIRT573936	hsa-miR-7161-5p	PAR-CLIP	20371350
MIRT573935	hsa-miR-8087	PAR-CLIP	20371350
MIRT573933	hsa-miR-4428	PAR-CLIP	20371350
MIRT573934	hsa-miR-571	PAR-CLIP	20371350
MIRT573932	hsa-miR-7-5p	PAR-CLIP	20371350
MIRT573931	hsa-miR-6077	PAR-CLIP	20371350
MIRT573930	hsa-miR-185-5p	PAR-CLIP	20371350
MIRT573929	hsa-miR-4306	PAR-CLIP	20371350
MIRT573928	hsa-miR-4644	PAR-CLIP	20371350
MIRT573927	hsa-miR-6079	PAR-CLIP	20371350
MIRT573926	hsa-miR-4444	PAR-CLIP	20371350
MIRT024222	hsa-miR-218-5p	HITS-CLIP	23212916
MIRT024222	hsa-miR-218-5p	HITS-CLIP	23212916
MIRT573937	hsa-miR-548u	PAR-CLIP	20371350
MIRT573936	hsa-miR-7161-5p	PAR-CLIP	20371350
MIRT573935	hsa-miR-8087	PAR-CLIP	20371350
MIRT573933	hsa-miR-4428	PAR-CLIP	20371350
MIRT573934	hsa-miR-571	PAR-CLIP	20371350
MIRT573932	hsa-miR-7-5p	PAR-CLIP	20371350
MIRT573931	hsa-miR-6077	PAR-CLIP	20371350
MIRT573930	hsa-miR-185-5p	PAR-CLIP	20371350
MIRT573929	hsa-miR-4306	PAR-CLIP	20371350
MIRT573928	hsa-miR-4644	PAR-CLIP	20371350
MIRT573927	hsa-miR-6079	PAR-CLIP	20371350
MIRT573926	hsa-miR-4444	PAR-CLIP	20371350
MIRT901754	hsa-miR-106a	CLIP-seq
MIRT901755	hsa-miR-106b	CLIP-seq
MIRT901756	hsa-miR-1207-3p	CLIP-seq
MIRT901757	hsa-miR-1228	CLIP-seq
MIRT901758	hsa-miR-125a-3p	CLIP-seq
MIRT901759	hsa-miR-1275	CLIP-seq
MIRT901760	hsa-miR-129-5p	CLIP-seq
MIRT901761	hsa-miR-1323	CLIP-seq
MIRT901762	hsa-miR-1470	CLIP-seq
MIRT901763	hsa-miR-148a	CLIP-seq
MIRT901764	hsa-miR-148b	CLIP-seq
MIRT901765	hsa-miR-152	CLIP-seq
MIRT901766	hsa-miR-17	CLIP-seq
MIRT901767	hsa-miR-181a	CLIP-seq
MIRT901768	hsa-miR-181b	CLIP-seq
MIRT901769	hsa-miR-181c	CLIP-seq
MIRT901770	hsa-miR-181d	CLIP-seq
MIRT901771	hsa-miR-1825	CLIP-seq
MIRT901772	hsa-miR-184	CLIP-seq
MIRT901773	hsa-miR-2052	CLIP-seq
MIRT901774	hsa-miR-20a	CLIP-seq
MIRT901775	hsa-miR-20b	CLIP-seq
MIRT901776	hsa-miR-2116	CLIP-seq
MIRT901777	hsa-miR-24	CLIP-seq
MIRT901778	hsa-miR-27a	CLIP-seq
MIRT901779	hsa-miR-27b	CLIP-seq
MIRT901780	hsa-miR-298	CLIP-seq
MIRT901781	hsa-miR-302a	CLIP-seq
MIRT901782	hsa-miR-302b	CLIP-seq
MIRT901783	hsa-miR-302c	CLIP-seq
MIRT901784	hsa-miR-302d	CLIP-seq
MIRT901785	hsa-miR-302e	CLIP-seq
MIRT901786	hsa-miR-3122	CLIP-seq
MIRT901787	hsa-miR-3125	CLIP-seq
MIRT901788	hsa-miR-3148	CLIP-seq
MIRT901789	hsa-miR-3150a-5p	CLIP-seq
MIRT901790	hsa-miR-3150b-5p	CLIP-seq
MIRT901791	hsa-miR-3153	CLIP-seq
MIRT901792	hsa-miR-3157-5p	CLIP-seq
MIRT901793	hsa-miR-342-3p	CLIP-seq
MIRT901794	hsa-miR-3613-3p	CLIP-seq
MIRT901795	hsa-miR-3614-5p	CLIP-seq
MIRT901796	hsa-miR-371-5p	CLIP-seq
MIRT901797	hsa-miR-371b-5p	CLIP-seq
MIRT901798	hsa-miR-372	CLIP-seq
MIRT901799	hsa-miR-373	CLIP-seq
MIRT901800	hsa-miR-3913-5p	CLIP-seq
MIRT901801	hsa-miR-3916	CLIP-seq
MIRT901802	hsa-miR-3928	CLIP-seq
MIRT901803	hsa-miR-3934	CLIP-seq
MIRT901804	hsa-miR-3938	CLIP-seq
MIRT901805	hsa-miR-4262	CLIP-seq
MIRT901806	hsa-miR-4284	CLIP-seq
MIRT901807	hsa-miR-4432	CLIP-seq
MIRT901808	hsa-miR-4433	CLIP-seq
MIRT901809	hsa-miR-4459	CLIP-seq
MIRT901810	hsa-miR-4477a	CLIP-seq
MIRT901811	hsa-miR-450b-5p	CLIP-seq
MIRT901812	hsa-miR-451b	CLIP-seq
MIRT901813	hsa-miR-4525	CLIP-seq
MIRT901814	hsa-miR-4659a-3p	CLIP-seq
MIRT901815	hsa-miR-4659b-3p	CLIP-seq
MIRT901816	hsa-miR-4665-5p	CLIP-seq
MIRT901817	hsa-miR-4667-3p	CLIP-seq
MIRT901818	hsa-miR-4668-5p	CLIP-seq
MIRT901819	hsa-miR-4696	CLIP-seq
MIRT901820	hsa-miR-4723-5p	CLIP-seq
MIRT901821	hsa-miR-4733-5p	CLIP-seq
MIRT901822	hsa-miR-4768-3p	CLIP-seq
MIRT901823	hsa-miR-4786-5p	CLIP-seq
MIRT901824	hsa-miR-4804-5p	CLIP-seq
MIRT901825	hsa-miR-508-5p	CLIP-seq
MIRT901826	hsa-miR-5096	CLIP-seq
MIRT901827	hsa-miR-513a-5p	CLIP-seq
MIRT901828	hsa-miR-519d	CLIP-seq
MIRT901829	hsa-miR-520a-3p	CLIP-seq
MIRT901830	hsa-miR-520b	CLIP-seq
MIRT901831	hsa-miR-520c-3p	CLIP-seq
MIRT901832	hsa-miR-520d-3p	CLIP-seq
MIRT901833	hsa-miR-520e	CLIP-seq
MIRT901834	hsa-miR-520f	CLIP-seq
MIRT901835	hsa-miR-548o	CLIP-seq
MIRT901836	hsa-miR-564	CLIP-seq
MIRT901837	hsa-miR-587	CLIP-seq
MIRT901838	hsa-miR-625	CLIP-seq
MIRT901839	hsa-miR-637	CLIP-seq
MIRT901840	hsa-miR-642a	CLIP-seq
MIRT901841	hsa-miR-659	CLIP-seq
MIRT901842	hsa-miR-661	CLIP-seq
MIRT901843	hsa-miR-764	CLIP-seq
MIRT901844	hsa-miR-766	CLIP-seq
MIRT901845	hsa-miR-93	CLIP-seq
MIRT1967476	hsa-miR-1	CLIP-seq
MIRT1967477	hsa-miR-1255a	CLIP-seq
MIRT1967478	hsa-miR-1255b	CLIP-seq
MIRT901759	hsa-miR-1275	CLIP-seq
MIRT1967479	hsa-miR-1281	CLIP-seq
MIRT1967480	hsa-miR-146a	CLIP-seq
MIRT1967481	hsa-miR-146b-5p	CLIP-seq
MIRT1967482	hsa-miR-1827	CLIP-seq
MIRT1967483	hsa-miR-206	CLIP-seq
MIRT1967484	hsa-miR-2113	CLIP-seq
MIRT1967485	hsa-miR-25	CLIP-seq
MIRT901778	hsa-miR-27a	CLIP-seq
MIRT901779	hsa-miR-27b	CLIP-seq
MIRT1967486	hsa-miR-3121-5p	CLIP-seq
MIRT901789	hsa-miR-3150a-5p	CLIP-seq
MIRT901790	hsa-miR-3150b-5p	CLIP-seq
MIRT1967487	hsa-miR-32	CLIP-seq
MIRT1967488	hsa-miR-3617	CLIP-seq
MIRT1967489	hsa-miR-363	CLIP-seq
MIRT1967490	hsa-miR-367	CLIP-seq
MIRT1967491	hsa-miR-3673	CLIP-seq
MIRT1967492	hsa-miR-3689a-3p	CLIP-seq
MIRT1967493	hsa-miR-3689c	CLIP-seq
MIRT1967494	hsa-miR-3924	CLIP-seq
MIRT1967495	hsa-miR-3929	CLIP-seq
MIRT1967496	hsa-miR-4419b	CLIP-seq
MIRT901807	hsa-miR-4432	CLIP-seq
MIRT1967497	hsa-miR-4478	CLIP-seq
MIRT901812	hsa-miR-451b	CLIP-seq
MIRT901813	hsa-miR-4525	CLIP-seq
MIRT1967498	hsa-miR-4649-3p	CLIP-seq
MIRT901816	hsa-miR-4665-5p	CLIP-seq
MIRT901819	hsa-miR-4696	CLIP-seq
MIRT1967499	hsa-miR-4722-5p	CLIP-seq
MIRT901820	hsa-miR-4723-5p	CLIP-seq
MIRT1967500	hsa-miR-4728-5p	CLIP-seq
MIRT901822	hsa-miR-4768-3p	CLIP-seq
MIRT1967501	hsa-miR-485-5p	CLIP-seq
MIRT901827	hsa-miR-513a-5p	CLIP-seq
MIRT1967502	hsa-miR-568	CLIP-seq
MIRT1967503	hsa-miR-582-3p	CLIP-seq
MIRT1967504	hsa-miR-589	CLIP-seq
MIRT1967505	hsa-miR-599	CLIP-seq
MIRT1967506	hsa-miR-613	CLIP-seq
MIRT901838	hsa-miR-625	CLIP-seq
MIRT901839	hsa-miR-637	CLIP-seq
MIRT1967507	hsa-miR-641	CLIP-seq
MIRT901842	hsa-miR-661	CLIP-seq
MIRT1967508	hsa-miR-890	CLIP-seq
MIRT1967509	hsa-miR-92a	CLIP-seq
MIRT1967510	hsa-miR-92b	CLIP-seq
MIRT1967511	hsa-miR-940	CLIP-seq
MIRT1967476	hsa-miR-1	CLIP-seq
MIRT2203204	hsa-miR-1197	CLIP-seq
MIRT901759	hsa-miR-1275	CLIP-seq
MIRT2203205	hsa-miR-1284	CLIP-seq
MIRT901760	hsa-miR-129-5p	CLIP-seq
MIRT2203206	hsa-miR-1301	CLIP-seq
MIRT2203207	hsa-miR-1304	CLIP-seq
MIRT2203208	hsa-miR-1305	CLIP-seq
MIRT901763	hsa-miR-148a	CLIP-seq
MIRT901764	hsa-miR-148b	CLIP-seq
MIRT901765	hsa-miR-152	CLIP-seq
MIRT901771	hsa-miR-1825	CLIP-seq
MIRT1967482	hsa-miR-1827	CLIP-seq
MIRT901772	hsa-miR-184	CLIP-seq
MIRT2203209	hsa-miR-1909	CLIP-seq
MIRT2203210	hsa-miR-194	CLIP-seq
MIRT2203211	hsa-miR-204	CLIP-seq
MIRT1967483	hsa-miR-206	CLIP-seq
MIRT2203212	hsa-miR-211	CLIP-seq
MIRT1967484	hsa-miR-2113	CLIP-seq
MIRT2203213	hsa-miR-218	CLIP-seq
MIRT901778	hsa-miR-27a	CLIP-seq
MIRT901779	hsa-miR-27b	CLIP-seq
MIRT2203214	hsa-miR-3074-5p	CLIP-seq
MIRT2203215	hsa-miR-3120-3p	CLIP-seq
MIRT2203216	hsa-miR-3126-3p	CLIP-seq
MIRT2203217	hsa-miR-3128	CLIP-seq
MIRT901788	hsa-miR-3148	CLIP-seq
MIRT2203218	hsa-miR-3164	CLIP-seq
MIRT901795	hsa-miR-3614-5p	CLIP-seq
MIRT2203219	hsa-miR-3616-3p	CLIP-seq
MIRT2203220	hsa-miR-3620	CLIP-seq
MIRT2203221	hsa-miR-3657	CLIP-seq
MIRT2203222	hsa-miR-3670	CLIP-seq
MIRT1967492	hsa-miR-3689a-3p	CLIP-seq
MIRT1967493	hsa-miR-3689c	CLIP-seq
MIRT2203223	hsa-miR-383	CLIP-seq
MIRT2203224	hsa-miR-3914	CLIP-seq
MIRT2203225	hsa-miR-3926	CLIP-seq
MIRT1967495	hsa-miR-3929	CLIP-seq
MIRT901804	hsa-miR-3938	CLIP-seq
MIRT2203226	hsa-miR-3942-5p	CLIP-seq
MIRT2203227	hsa-miR-4252	CLIP-seq
MIRT2203228	hsa-miR-4253	CLIP-seq
MIRT1967496	hsa-miR-4419b	CLIP-seq
MIRT901807	hsa-miR-4432	CLIP-seq
MIRT901808	hsa-miR-4433	CLIP-seq
MIRT2203229	hsa-miR-4453	CLIP-seq
MIRT901809	hsa-miR-4459	CLIP-seq
MIRT2203230	hsa-miR-4474-5p	CLIP-seq
MIRT1967497	hsa-miR-4478	CLIP-seq
MIRT2203231	hsa-miR-4487	CLIP-seq
MIRT901812	hsa-miR-451b	CLIP-seq
MIRT901813	hsa-miR-4525	CLIP-seq
MIRT2203232	hsa-miR-4538	CLIP-seq
MIRT1967498	hsa-miR-4649-3p	CLIP-seq
MIRT2203233	hsa-miR-4654	CLIP-seq
MIRT901816	hsa-miR-4665-5p	CLIP-seq
MIRT2203234	hsa-miR-4669	CLIP-seq
MIRT2203235	hsa-miR-4693-3p	CLIP-seq
MIRT901819	hsa-miR-4696	CLIP-seq
MIRT2203236	hsa-miR-4703-5p	CLIP-seq
MIRT2203237	hsa-miR-4704-3p	CLIP-seq
MIRT2203238	hsa-miR-4720-5p	CLIP-seq
MIRT2203239	hsa-miR-4721	CLIP-seq
MIRT901820	hsa-miR-4723-5p	CLIP-seq
MIRT1967500	hsa-miR-4728-5p	CLIP-seq
MIRT901821	hsa-miR-4733-5p	CLIP-seq
MIRT2203240	hsa-miR-4761-3p	CLIP-seq
MIRT901822	hsa-miR-4768-3p	CLIP-seq
MIRT2203241	hsa-miR-4769-5p	CLIP-seq
MIRT2203242	hsa-miR-4772-5p	CLIP-seq
MIRT2203243	hsa-miR-4773	CLIP-seq
MIRT2203244	hsa-miR-4774-5p	CLIP-seq
MIRT2203245	hsa-miR-4781-3p	CLIP-seq
MIRT901823	hsa-miR-4786-5p	CLIP-seq
MIRT2203246	hsa-miR-4795-3p	CLIP-seq
MIRT2203247	hsa-miR-4796-5p	CLIP-seq
MIRT2203248	hsa-miR-4799-3p	CLIP-seq
MIRT901824	hsa-miR-4804-5p	CLIP-seq
MIRT1967501	hsa-miR-485-5p	CLIP-seq
MIRT2203249	hsa-miR-5047	CLIP-seq
MIRT901825	hsa-miR-508-5p	CLIP-seq
MIRT901827	hsa-miR-513a-5p	CLIP-seq
MIRT2203250	hsa-miR-548c-3p	CLIP-seq
MIRT2203251	hsa-miR-548p	CLIP-seq
MIRT2203252	hsa-miR-548s	CLIP-seq
MIRT1967502	hsa-miR-568	CLIP-seq
MIRT901837	hsa-miR-587	CLIP-seq
MIRT2203253	hsa-miR-592	CLIP-seq
MIRT1967505	hsa-miR-599	CLIP-seq
MIRT1967506	hsa-miR-613	CLIP-seq
MIRT2203254	hsa-miR-622	CLIP-seq
MIRT901838	hsa-miR-625	CLIP-seq
MIRT2203255	hsa-miR-628-3p	CLIP-seq
MIRT2203256	hsa-miR-634	CLIP-seq
MIRT2203257	hsa-miR-635	CLIP-seq
MIRT901839	hsa-miR-637	CLIP-seq
MIRT2203258	hsa-miR-656	CLIP-seq
MIRT901842	hsa-miR-661	CLIP-seq
MIRT2203259	hsa-miR-758	CLIP-seq
MIRT2203260	hsa-miR-765	CLIP-seq
MIRT901844	hsa-miR-766	CLIP-seq
MIRT2203261	hsa-miR-802	CLIP-seq
MIRT2203262	hsa-miR-873	CLIP-seq
MIRT1967508	hsa-miR-890	CLIP-seq
MIRT1967511	hsa-miR-940	CLIP-seq
MIRT901756	hsa-miR-1207-3p	CLIP-seq
MIRT2203206	hsa-miR-1301	CLIP-seq
MIRT1967485	hsa-miR-25	CLIP-seq
MIRT1967487	hsa-miR-32	CLIP-seq
MIRT1967489	hsa-miR-363	CLIP-seq
MIRT1967490	hsa-miR-367	CLIP-seq
MIRT2386325	hsa-miR-4660	CLIP-seq
MIRT2203249	hsa-miR-5047	CLIP-seq
MIRT1967509	hsa-miR-92a	CLIP-seq
MIRT1967510	hsa-miR-92b	CLIP-seq
MIRT901761	hsa-miR-1323	CLIP-seq
MIRT901794	hsa-miR-3613-3p	CLIP-seq
MIRT901796	hsa-miR-371-5p	CLIP-seq
MIRT901797	hsa-miR-371b-5p	CLIP-seq
MIRT901807	hsa-miR-4432	CLIP-seq
MIRT901835	hsa-miR-548o	CLIP-seq
MIRT901759	hsa-miR-1275	CLIP-seq
MIRT901761	hsa-miR-1323	CLIP-seq
MIRT901763	hsa-miR-148a	CLIP-seq
MIRT901764	hsa-miR-148b	CLIP-seq
MIRT901765	hsa-miR-152	CLIP-seq
MIRT901771	hsa-miR-1825	CLIP-seq
MIRT901794	hsa-miR-3613-3p	CLIP-seq
MIRT901796	hsa-miR-371-5p	CLIP-seq
MIRT901797	hsa-miR-371b-5p	CLIP-seq
MIRT901807	hsa-miR-4432	CLIP-seq
MIRT901812	hsa-miR-451b	CLIP-seq
MIRT901813	hsa-miR-4525	CLIP-seq
MIRT901816	hsa-miR-4665-5p	CLIP-seq
MIRT901819	hsa-miR-4696	CLIP-seq
MIRT901820	hsa-miR-4723-5p	CLIP-seq
MIRT901825	hsa-miR-508-5p	CLIP-seq
MIRT901835	hsa-miR-548o	CLIP-seq
MIRT901838	hsa-miR-625	CLIP-seq
MIRT901839	hsa-miR-637	CLIP-seq
MIRT901842	hsa-miR-661	CLIP-seq
MIRT901844	hsa-miR-766	CLIP-seq
MIRT901759	hsa-miR-1275	CLIP-seq
MIRT901761	hsa-miR-1323	CLIP-seq
MIRT901763	hsa-miR-148a	CLIP-seq
MIRT901764	hsa-miR-148b	CLIP-seq
MIRT901765	hsa-miR-152	CLIP-seq
MIRT901771	hsa-miR-1825	CLIP-seq
MIRT901794	hsa-miR-3613-3p	CLIP-seq
MIRT901796	hsa-miR-371-5p	CLIP-seq
MIRT901797	hsa-miR-371b-5p	CLIP-seq
MIRT901807	hsa-miR-4432	CLIP-seq
MIRT901812	hsa-miR-451b	CLIP-seq
MIRT901813	hsa-miR-4525	CLIP-seq
MIRT901816	hsa-miR-4665-5p	CLIP-seq
MIRT901819	hsa-miR-4696	CLIP-seq
MIRT901820	hsa-miR-4723-5p	CLIP-seq
MIRT901825	hsa-miR-508-5p	CLIP-seq
MIRT901835	hsa-miR-548o	CLIP-seq
MIRT901838	hsa-miR-625	CLIP-seq
MIRT901839	hsa-miR-637	CLIP-seq
MIRT901842	hsa-miR-661	CLIP-seq
MIRT901844	hsa-miR-766	CLIP-seq

Show/Hide all (3)

Transcription factor	Regulation	Reference
FOXP2	Repression	18987364
FOXP2	Unknown	19582487
TCF4	Activation	22777675

Show/Hide all (54)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001964	Process	Startle response	IEA
GO:0002020	Function	Protease binding	IEA
GO:0005515	Function	Protein binding	IPI	22872700, 25416956, 26721881, 32296183
GO:0005769	Component	Early endosome	IDA	19706678
GO:0005794	Component	Golgi apparatus	IDA	19166515
GO:0007155	Process	Cell adhesion	IEA
GO:0007417	Process	Central nervous system development	IEA
GO:0007420	Process	Brain development	TAS	10624965
GO:0007612	Process	Learning	IMP	18179893
GO:0008038	Process	Neuron recognition	NAS	10624965
GO:0008076	Component	Voltage-gated potassium channel complex	IDA	10624965
GO:0008076	Component	Voltage-gated potassium channel complex	NAS	10624965
GO:0008283	Process	Cell population proliferation	IDA	29028946
GO:0009986	Component	Cell surface	IDA	19706678
GO:0016020	Component	Membrane	IDA	10624965
GO:0016020	Component	Membrane	IEA
GO:0016020	Component	Membrane	NAS	11352571
GO:0019226	Process	Transmission of nerve impulse	NAS	11352571
GO:0019899	Function	Enzyme binding	IPI	19166515
GO:0021756	Process	Striatum development	IEP	18179893
GO:0021761	Process	Limbic system development	IEP	18179895
GO:0021794	Process	Thalamus development	IEP	18179893
GO:0021987	Process	Cerebral cortex development	IEP	18179893, 18987363
GO:0030424	Component	Axon	IEA
GO:0030424	Component	Axon	NAS	19706678
GO:0030425	Component	Dendrite	IEA
GO:0030425	Component	Dendrite	NAS	10624965
GO:0030534	Process	Adult behavior	IMP	18179893
GO:0030673	Component	Axolemma	IDA	19706678
GO:0030673	Component	Axolemma	IEA
GO:0031175	Process	Neuron projection development	ISS
GO:0033010	Component	Paranodal junction	IEA
GO:0033270	Component	Paranode region of axon	IEA
GO:0035176	Process	Social behavior	IMP	18179893, 19896112
GO:0042297	Process	Vocal learning	IMP	19896112
GO:0042734	Component	Presynaptic membrane	IEA
GO:0042995	Component	Cell projection	IEA
GO:0043025	Component	Neuronal cell body	IEA
GO:0043025	Component	Neuronal cell body	NAS	10624965
GO:0043204	Component	Perikaryon	NAS	19166515
GO:0044224	Component	Juxtaparanode region of axon	IEA
GO:0044224	Component	Juxtaparanode region of axon	ISS
GO:0044325	Function	Transmembrane transporter binding	IEA
GO:0045163	Process	Clustering of voltage-gated potassium channels	ISS
GO:0048812	Process	Neuron projection morphogenesis	ISS
GO:0060134	Process	Prepulse inhibition	IEA
GO:0070161	Component	Anchoring junction	IEA
GO:0071109	Process	Superior temporal gyrus development	IEP	18179893
GO:0071205	Process	Protein localization to juxtaparanode region of axon	ISS
GO:0071625	Process	Vocalization behavior	IMP	18179893, 19896112
GO:0097060	Component	Synaptic membrane	IEA
GO:0098978	Component	Glutamatergic synapse	IEA
GO:0098982	Component	GABA-ergic synapse	IEA
GO:1903598	Process	Positive regulation of gap junction assembly	IMP	33238150

MIM	HGNC	e!Ensembl
604569	13830	ENSG00000174469

Q9UHC6

Protein name

Contactin-associated protein-like 2 (Cell recognition molecule Caspr2)

Protein function

Required for gap junction formation (Probable). Required, with CNTNAP1, for radial and longitudinal organization of myelinated axons. Plays a role in the formation of functional distinct domains critical for saltatory conduction of nerve impulse

PDB

5Y4M

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00754	F5_F8_type_C	47 → 178	F5/8 type C domain	Domain
PF02210	Laminin_G_2	216 → 345	Laminin G domain	Domain
PF02210	Laminin_G_2	401 → 529	Laminin G domain	Domain
PF02210	Laminin_G_2	827 → 945	Laminin G domain	Domain
PF02210	Laminin_G_2	1055 → 1187	Laminin G domain	Domain

Tissue specificity

TISSUE SPECIFICITY: Predominantly expressed in nervous system. {ECO:0000269|PubMed:10624965}.

Sequence

MQAAPRAGCGAALLLWIVSSCLCRAWTAPSTSQKCDEPLVSGLPHVAFSSSSSISGSYSP
GYAKINKRGGAGGWSPSDSDHYQWLQVDFGNRKQISAIATQGRYSSSDWVTQYRMLYSDT
GRNWKPYHQDGNIWAFPGNINSDGVVRHELQHPIIARYVRIVPLDWNGEGRIGLRIEVYG
CSYWADVINFDGHVVLPYRFRNKKMKTLKDVIALNFKTSESEGVILHGEGQQGDYITLEL
KKAKLVLSLNLGSNQLGPIYGHTSVMTGSLLDDHHWHSVVIERQGRSINLTLDRSMQHFR
TNGEFDYLDLDYEITFGGIPFSGKPSSSSRKNFKGCMESINYNGVNITDLARRKKLEPSN
VGNLSFSCVEPYTVPVFFNATSYLEVPGRLNQDLFSVSFQFRTWNPNGLLVFSHFADNLG
NVEIDLTESKVGVHINITQTKMSQIDISSGSGLNDGQWHEVRFLAKENFAILTIDGDEAS
AVRTNSPLQVKTGEKYFFGGFLNQMNNSSHSVLQPSFQGCMQLIQVDDQLVNLYEVAQRK
PGSFANVSIDMCAIIDRCVPNHCEHGGKCSQTWDSFKCTCDETGYSGATCHNSIYEPSCE
AYKHLGQTSNYYWIDPDGSGPLGPLKVYCNMTEDKVWTIVSHDLQMQTPVVGYNPEKYSV
TQLVYSASMDQISAITDSAEYCEQYVSYFCKMSRLLNTPDGSPYTWWVGKANEKHYYWGG
SGPGIQKCACGIERNCTDPKYYCNCDADYKQWRKDAGFLSYKDHLPVSQVVVGDTDRQGS
EAKLSVGPLRCQGDRNYWNAASFPNPSSYLHFSTFQGETSADISFYFKTLTPWGVFLENM
GKEDFIKLELKSATEVSFSFDVGNGPVEIVVRSPTPLNDDQWHRVTAERNVKQASLQVDR
LPQQIRKAPTEGHTRLELYSQLFVGGAGGQQGFLGCIRSLRMNGVTLDLEERAKVTSGFI
SGCSGHCTSYGTNCENGGKCLERYHGYSCDCSNTAYDGTFCNKDVGAFFEEGMWLRYNFQ
APATNARDSSSRVDNAPDQQNSHPDLAQEEIRFSFSTTKAPCILLYISSFTTDFLAVLVK
PTGSLQIRYNLGGTREPYNIDVDHRNMANGQPHSVNITRHEKTIFLKLDHYPSVSYHLPS
SSDTLFNSPKSLFLGKVIETGKIDQEIHKYNTPGFTGCLSRVQFNQIAPLKAALRQTNAS
AHVHIQGELVESNCGASPLTLSPMSSATDPWHLDHLDSASADFPYNPGQGQAIRNGVNRN
SAIIGGVIAVVIFTILCTLVFLIRYMFRHKGTYHTNEAKGAESAESADAAIMNNDPNFTE
TIDESKKEWLI

Sequence length

1331

Interactions

View interactions

	KEGG
	Cell adhesion molecules

1861

Show/Hide Causal Diseases (7)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Autism spectrum disorder	Likely pathogenic	rs1396313317	RCV000754684
Autism, susceptibility to, 15	Likely pathogenic; Pathogenic	rs371512835, rs771827120, rs1391540245	RCV005040449 RCV004586780 RCV005046829
Cortical dysplasia-focal epilepsy syndrome	Pathogenic; Likely pathogenic	rs398124268, rs2129185949, rs1247068015, rs1805809633, rs771533907, rs2116752243, rs749575477, rs2116608214, rs767408882, rs371512835, rs2116924115, rs2116789389, rs1458942108, rs1801395870, rs1799910521 View all (50 more)	RCV000701675 RCV001379813 RCV001389440 RCV001386313 RCV001859355 RCV001788509 RCV001780520 RCV001872168 RCV001969610 RCV001877348 RCV001893466 RCV001933843 RCV001878964 RCV002002482 RCV001888958 RCV001958658 RCV001952902 RCV001953595 RCV002052269 RCV002266452 RCV002273167 RCV003098614 RCV002465410 RCV000541323 RCV000005825 RCV000005830 RCV002816355 RCV002843220 RCV002811767 RCV003015787 RCV003055532 RCV003123352 RCV003123353 RCV003494065 RCV003505823 RCV003504828 RCV003505684 RCV003505685 RCV003505571 RCV003613739 RCV003613773 RCV003614647 RCV003614964 RCV003615004 RCV001856908 RCV000505263 RCV000505266 RCV000505262 RCV000553929 RCV000559447 RCV000644701 RCV000791002 RCV000806203 RCV000987993 RCV000991388 RCV003117678 RCV001049033 RCV001064169 RCV003114237 RCV001196340 RCV001218741 RCV001201543 RCV001251138 RCV001251137 RCV003614084
Intellectual disability	Likely pathogenic	rs1584757170	RCV001260691
Neurodevelopmental delay	Likely pathogenic	rs1433216677	RCV002274435
Pitt-Hopkins-like syndrome	Pathogenic	rs2536567810	RCV002471930
See cases	Likely pathogenic; Pathogenic	rs2129279561, rs752550849	RCV001420240 RCV002221212

Show/Hide Unknown Diseases (26)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Acute myeloid leukemia	Conflicting classifications of pathogenicity	rs77025884	RCV005886548
Cervical cancer	Conflicting classifications of pathogenicity; Benign; Likely benign	rs78223661, rs77706740	RCV005886558 RCV005892914
Cholangiocarcinoma	Conflicting classifications of pathogenicity; Benign; Likely benign	rs78223661, rs77706740	RCV005886559 RCV005892920
Chronic lymphocytic leukemia/small lymphocytic lymphoma	Conflicting classifications of pathogenicity; Benign; Likely benign	rs77025884, rs77706740	RCV005886555 RCV005892922
CNTNAP2-related disorder	Conflicting classifications of pathogenicity; Uncertain significance; Likely benign; Benign	rs139180845, rs143877693, rs145162968, rs142984073, rs2129282723, rs537291804, rs1315315089, rs79039458, rs146225600, rs141078449, rs769347712, rs138481453, rs201602527, rs201219937, rs201311931 View all (35 more)	RCV003935059 RCV003915083 RCV003964936 RCV003935060 RCV003399176 RCV003946124 RCV003930989 RCV003915142 RCV003975014 RCV003925133 RCV003978451 RCV004748593 RCV003952647 RCV003935182 RCV003945119 RCV003401809 RCV003975197 RCV003965138 RCV003917492 RCV003975279 RCV003937568 RCV004748628 RCV004749940 RCV004748643 RCV004748644 RCV003955123 RCV003967469 RCV003907653 RCV003927735 RCV004748645 RCV003955122 RCV003917708 RCV003967470 RCV003967471 RCV003977494 RCV003943517 RCV003897606 RCV003967730 RCV003397571 RCV003893557 RCV003901852 RCV003911442 RCV003970110 RCV003970109 RCV003962339 RCV004748784 RCV003979992 RCV003892818 RCV004726751 RCV003918659
Epilepsy	Conflicting classifications of pathogenicity	rs371512835	RCV001553785
Familial cancer of breast	Conflicting classifications of pathogenicity; Benign	rs77025884, rs9648691	RCV005886547 RCV005886556
Familial pancreatic carcinoma	Benign; Likely benign	rs77706740	RCV005892915
Focal-onset seizure	Likely benign	rs1057518820	RCV000415083
Gait imbalance	Likely benign	rs1057518820	RCV000415083
Gastric cancer	Benign; Likely benign	rs77706740	RCV005892916
Germ cell tumor of testis	Benign; Likely benign	rs77706740	RCV005892921
Hyperactivity	Likely benign	rs1057518820	RCV000415083
Lung cancer	Conflicting classifications of pathogenicity	rs139180845, rs77025884, rs78223661, rs779384498	RCV005886546 RCV005886553 RCV005886560 RCV005911154
Lymphoma	Conflicting classifications of pathogenicity; Benign; Likely benign	rs77025884, rs77706740	RCV005886552 RCV005892917
Malignant lymphoma, large B-cell, diffuse	Conflicting classifications of pathogenicity	rs77025884	RCV005886551
Malignant tumor of esophagus	Conflicting classifications of pathogenicity; Benign; Likely benign	rs78223661, rs77706740	RCV005886557 RCV005892912
Melanoma	Conflicting classifications of pathogenicity	rs139180845	RCV005886545
Nonpapillary renal cell carcinoma	Conflicting classifications of pathogenicity; Likely benign; Benign	rs77025884, rs1554439036, rs77706740	RCV005886549 RCV005869732 RCV005892913
Ovarian cancer	Conflicting classifications of pathogenicity	rs77025884	RCV005886550
Ovarian serous cystadenocarcinoma	Benign; Likely benign	rs77706740	RCV005892918
Schizophrenia	Uncertain significance	rs2485582381, rs869253269	RCV002463495 RCV002463496
Seizure	Likely benign	rs1057518820	RCV000415083
Self-limited epilepsy with centrotemporal spikes	Conflicting classifications of pathogenicity; Uncertain significance	rs369675346, rs147815978, rs760930032, rs201446615, rs758630057, rs751491210	RCV000656005 RCV000656006 RCV000656007 RCV000656008 RCV000656009 RCV000656010
Thymoma	Benign; Likely benign	rs77706740	RCV005892919
Uterine corpus endometrial carcinoma	Conflicting classifications of pathogenicity; Uncertain significance	rs77025884, rs78223661, rs144623130	RCV005886554 RCV005886561 RCV005913555

Show/Hide Text Mining Associations (79)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Abnormalities Drug Induced	Associate	22872700, 27484312
Alzheimer Disease	Associate	37302762
Aphasia	Associate	26909962
Apraxias	Associate	21108403, 22738016
Atrophy	Associate	27484312
Attention Deficit Disorder with Hyperactivity	Associate	19546859, 34641913, 37667328
Autism Spectrum Disorder	Associate	20176116, 20838614, 21108403, 21193173, 22892527, 23074245, 26909962, 29703944, 30763456, 31993662, 32081867, 33076578, 34257739, 34271514, 34471112 View all (4 more)
Autistic Disorder	Associate	17978184, 18179879, 18179893, 18179894, 18987363, 19546859, 20176116, 20574149, 21048216, 21193173, 21310003, 21448237, 22500773, 22738016, 22843504 View all (13 more)
Autistic Disorder	Inhibit	25444170
Autoimmune limbic encephalitis	Associate	38386048
Bipolar Disorder	Associate	27112568, 30586385
Brain Diseases	Associate	20574149, 34271514, 34471112
Breast Neoplasms	Associate	33126731
Charcot Marie Tooth Disease	Associate	25648254
Chronic Pain	Associate	38386048
Congenital Abnormalities	Associate	21827697
Cortical Dysplasia Focal Epilepsy Syndrome	Associate	30586385
Dehydrated Hereditary Stomatocytosis Pseudohyperkalemia and Perinatal Edema	Associate	29221444
Developmental Disabilities	Associate	20502679, 21048216, 23602712, 30017804, 31475484, 34582124, 37001843
Diabetes Mellitus	Associate	38386048
Diabetic Foot	Associate	34582124
Disease	Associate	30586385
Drug Resistant Epilepsy	Associate	38183825
Dyslexia	Associate	27484312, 28839234, 30017804, 37667328
Epilepsies Partial	Associate	16571880
Epilepsy	Associate	17978184, 21827697, 26843181, 26909962, 29261713, 30586385, 30763456, 34582124, 34641913, 37001843
Epilepsy Rolandic	Associate	22738016
Epilepsy Temporal Lobe	Associate	23871450
Epileptic Syndromes	Associate	22872700
Exfoliation Syndrome	Associate	20808326, 22690117
Exostoses	Associate	34582124
Focal cortical dysplasia of Taylor	Associate	40282380
Frontotemporal Dementia	Associate	27484312
Genetic Diseases Inborn	Associate	26843181, 34641913
Hemangioma	Associate	40416971
Immunologic Deficiency Syndromes	Associate	25045150, 29788256
Intellectual Disability	Associate	16571880, 21827697, 26843181, 30586385, 34641913, 34898614, 37001843, 40282380
Intraoperative Awareness	Associate	34271514
Isaacs Syndrome	Associate	28251919
Language Development Disorders	Associate	17978184, 18987363, 21310003, 21827697, 34582124, 35733350
Language Disorders	Associate	18987363, 20574149, 21048216, 21193173, 21310003, 23602712, 24807205, 26843181, 26909962, 30586385, 34257739, 34641913, 35733350
Learning Disabilities	Associate	20574149, 21827697
Limbic Encephalitis	Associate	39393351
Malformations of Cortical Development	Associate	16571880
Megalencephaly	Associate	16571880
Mental Disorders	Associate	21827697, 26909962
Muscle Hypotonia	Associate	34582124
Mutism	Associate	21193173
Myasthenia Gravis	Associate	28251919
Myelitis	Associate	28251919
Neoplasms	Associate	18535405, 35982066
Nerve Degeneration	Associate	33843981, 39393351
Neurologic Manifestations	Associate	34582124, 39393351
Neuromuscular Diseases	Associate	25648254
Nevus Sebaceous of Jadassohn	Associate	34471112
Oligodendroglioma	Associate	35982066
Pain	Associate	38386048
Pancreatic Neoplasms	Associate	18535405
Paraneoplastic Syndromes Nervous System	Associate	33843981
Peripheral Nervous System Diseases	Associate	38386048
Personality Disorders	Associate	16571880, 18957941
Phobia Social	Associate	21193173
Plaque Atherosclerotic	Associate	29221444
Precancerous Conditions	Associate	40416971
Psychomotor Agitation	Associate	34582124
Rhabdoid Tumor	Associate	24418192
Schizophrenia	Associate	19546859, 21827697, 23871450, 26843181, 26909962, 37001843
Seizures	Associate	34582124
Simosa cranio facial syndrome	Associate	34582124
Simpson Golabi Behmel syndrome	Associate	34471112
Social Communication Disorder	Associate	31993662
Somatoform Disorders	Associate	38386048
Specific Language Disorder	Associate	21310003, 24807205
Stereotypic Movement Disorder	Associate	34641913
Stuttering	Associate	21108403, 24807205
Substance Related Disorders	Associate	27484312
Thymoma	Associate	28251919
Tics	Associate	30763456
Tourette Syndrome	Associate	19546859

CNTNAP2 (contactin associated protein 2)