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

Gene Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	57545
Gene name Gene Name - the full gene name approved by the HGNC.	Coiled-coil and C2 domain containing 2A
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	CC2D2A
Synonyms (NCBI Gene) Gene synonyms aliases	COACH2, JBTS9, MKS6, RP93
Chromosome Chromosome number	4
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	4p15.32
Summary Summary of gene provided in NCBI Entrez Gene.	This gene encodes a coiled-coil and calcium binding domain protein that appears to play a critical role in cilia formation. Mutations in this gene cause Meckel syndrome type 6, as well as Joubert syndrome type 9. Alternative splicing results in multiple t

Show/Hide all(123)

SNP ID	Visualize variation	Clinical significance	Consequence
rs16892134	G>A,C	Conflicting-interpretations-of-pathogenicity, benign, likely-benign, uncertain-significance	Non coding transcript variant, missense variant, coding sequence variant, genic downstream transcript variant
rs61740537	T>C	Likely-benign, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant, genic downstream transcript variant, non coding transcript variant
rs116358011	C>A,G,T	Pathogenic	Coding sequence variant, genic downstream transcript variant, stop gained, missense variant, non coding transcript variant
rs118204051	C>T	Conflicting-interpretations-of-pathogenicity, likely-pathogenic	Missense variant, coding sequence variant, genic downstream transcript variant, non coding transcript variant
rs118204052	C>T	Pathogenic, likely-pathogenic	Missense variant, coding sequence variant, genic downstream transcript variant
rs118204053	C>G,T	Pathogenic	Coding sequence variant, genic downstream transcript variant, stop gained, missense variant, non coding transcript variant
rs150093365	G>A	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, genic downstream transcript variant, missense variant, non coding transcript variant
rs182369056	G>A	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, synonymous variant, genic downstream transcript variant, non coding transcript variant
rs186264635	T>C,G	Likely-benign, conflicting-interpretations-of-pathogenicity	Missense variant, non coding transcript variant, genic downstream transcript variant, synonymous variant, coding sequence variant
rs188891842	A>G	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Non coding transcript variant, genic downstream transcript variant, missense variant, coding sequence variant
rs190698163	T>A	Likely-benign, conflicting-interpretations-of-pathogenicity	Non coding transcript variant, genic downstream transcript variant, missense variant, coding sequence variant
rs199688524	T>A	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, genic downstream transcript variant, synonymous variant
rs199861496	C>T	Conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, genic downstream transcript variant, synonymous variant
rs200407856	G>A	Pathogenic	Genic downstream transcript variant, splice donor variant
rs200427832	T>C	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, genic downstream transcript variant, non coding transcript variant, missense variant
rs200764366	G>A	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, genic downstream transcript variant, non coding transcript variant, missense variant
rs200904521	C>A,T	Pathogenic, uncertain-significance	Stop gained, genic downstream transcript variant, non coding transcript variant, coding sequence variant, missense variant
rs201502401	A>T	Pathogenic, uncertain-significance	Coding sequence variant, genic downstream transcript variant, missense variant
rs202150325	T>C	Conflicting-interpretations-of-pathogenicity, uncertain-significance, likely-benign	Coding sequence variant, genic downstream transcript variant, synonymous variant, non coding transcript variant
rs267606709	C>T	Pathogenic, uncertain-significance	Coding sequence variant, genic downstream transcript variant, non coding transcript variant, missense variant
rs367841700	C>G,T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, genic downstream transcript variant, synonymous variant
rs368720062	T>C	Likely-pathogenic	Coding sequence variant, genic downstream transcript variant, missense variant
rs369022150	G>A	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Genic downstream transcript variant, intron variant
rs370492044	T>C	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, genic downstream transcript variant, non coding transcript variant, missense variant
rs370880399	C>T	Pathogenic, likely-pathogenic	3 prime UTR variant, stop gained, genic downstream transcript variant, non coding transcript variant, coding sequence variant
rs371086728	C>T	Conflicting-interpretations-of-pathogenicity, uncertain-significance, likely-benign	Coding sequence variant, genic downstream transcript variant, synonymous variant, non coding transcript variant
rs372292129	A>T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, genic downstream transcript variant, synonymous variant, non coding transcript variant
rs372671421	T>C	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, genic downstream transcript variant, synonymous variant
rs373296447	T>C	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, genic downstream transcript variant, synonymous variant, non coding transcript variant
rs373960465	G>A	Conflicting-interpretations-of-pathogenicity, uncertain-significance	3 prime UTR variant, genic downstream transcript variant, non coding transcript variant, coding sequence variant, missense variant
rs375131519	G>A	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, non coding transcript variant, synonymous variant, genic downstream transcript variant
rs375278294	C>A,T	Pathogenic, uncertain-significance	Stop gained, coding sequence variant, non coding transcript variant, synonymous variant, genic downstream transcript variant
rs376644970	G>A,C	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, non coding transcript variant, synonymous variant, genic downstream transcript variant
rs377177061	C>G,T	Pathogenic	Stop gained, coding sequence variant, non coding transcript variant, genic downstream transcript variant, missense variant
rs386833745	G>-	Likely-pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant, genic downstream transcript variant
rs386833746	T>A,G	Likely-pathogenic	Coding sequence variant, missense variant, non coding transcript variant, genic downstream transcript variant
rs386833747	G>A,C	Likely-pathogenic	Splice donor variant, genic downstream transcript variant
rs386833748	C>T	Likely-pathogenic	Coding sequence variant, stop gained, non coding transcript variant, genic downstream transcript variant
rs386833749	G>-	Likely-pathogenic, pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant, 3 prime UTR variant, genic downstream transcript variant
rs386833750	C>A,G,T	Likely-pathogenic, pathogenic, likely-benign, conflicting-interpretations-of-pathogenicity	Downstream transcript variant, stop gained, coding sequence variant, non coding transcript variant, synonymous variant, genic downstream transcript variant, missense variant
rs386833751	G>-	Likely-pathogenic, pathogenic	Coding sequence variant, splice acceptor variant, non coding transcript variant, genic downstream transcript variant
rs386833752	C>T	Likely-pathogenic, pathogenic, uncertain-significance	Coding sequence variant, missense variant, non coding transcript variant, genic downstream transcript variant
rs386833753	C>A	Likely-pathogenic	Intron variant, genic downstream transcript variant
rs386833754	->TG	Likely-pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant, genic downstream transcript variant
rs386833755	T>C	Likely-pathogenic	Coding sequence variant, missense variant, non coding transcript variant, genic downstream transcript variant
rs386833756	T>-	Likely-pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant, genic downstream transcript variant
rs386833757	->T	Likely-pathogenic, pathogenic	Coding sequence variant, stop gained, non coding transcript variant, genic downstream transcript variant
rs386833758	T>A	Likely-pathogenic	Coding sequence variant, missense variant, non coding transcript variant, genic downstream transcript variant
rs386833759	AGTA>-	Likely-pathogenic, pathogenic	Downstream transcript variant, intron variant, coding sequence variant, non coding transcript variant, genic downstream transcript variant, splice donor variant
rs386833760	G>-	Pathogenic	Coding sequence variant, splice donor variant, genic downstream transcript variant
rs386833762	T>A,C	Likely-pathogenic, uncertain-significance	Splice donor variant, genic downstream transcript variant
rs386833763	C>T	Pathogenic	Coding sequence variant, stop gained, non coding transcript variant, genic downstream transcript variant
rs386833764	GAA>-	Likely-pathogenic, benign, likely-benign	Coding sequence variant, inframe deletion, non coding transcript variant, genic downstream transcript variant
rs386833765	G>-	Likely-pathogenic, pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant, genic downstream transcript variant
rs387907058	A>C	Pathogenic, uncertain-significance	Coding sequence variant, missense variant, genic downstream transcript variant
rs570078140	T>A,C	Conflicting-interpretations-of-pathogenicity	Genic downstream transcript variant, non coding transcript variant, synonymous variant, coding sequence variant, missense variant
rs576298659	C>A,T	Likely-pathogenic	Genic downstream transcript variant, intron variant
rs587779732	C>A,G,T	Likely-pathogenic	Missense variant, coding sequence variant, synonymous variant, genic downstream transcript variant
rs746415983	G>-	Pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant, genic downstream transcript variant
rs754221308	T>C	Pathogenic	Missense variant, non coding transcript variant, genic downstream transcript variant, coding sequence variant
rs755258233	C>A,G	Conflicting-interpretations-of-pathogenicity	Non coding transcript variant, genic downstream transcript variant, coding sequence variant, synonymous variant
rs755367503	C>T	Conflicting-interpretations-of-pathogenicity	Non coding transcript variant, genic downstream transcript variant, coding sequence variant, synonymous variant
rs757208121	C>T	Pathogenic	Coding sequence variant, stop gained, non coding transcript variant, genic downstream transcript variant
rs758036385	C>T	Pathogenic	Coding sequence variant, stop gained, genic downstream transcript variant
rs760918829	T>C	Pathogenic, uncertain-significance	Coding sequence variant, missense variant, non coding transcript variant, genic downstream transcript variant
rs762683334	G>A,T	Likely-pathogenic	Coding sequence variant, missense variant, genic downstream transcript variant
rs762998472	->GGCATGTTTTGGC,GGCATGTTTTGGCAGCGA	Pathogenic	Genic downstream transcript variant, frameshift variant, coding sequence variant, inframe insertion, non coding transcript variant
rs763486732	G>A	Pathogenic	Coding sequence variant, missense variant, genic downstream transcript variant
rs763735590	GT>-	Pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant, genic downstream transcript variant
rs764719093	C>A,T	Pathogenic	Genic downstream transcript variant, missense variant, coding sequence variant, stop gained, non coding transcript variant
rs771914973	G>A,T	Conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, genic downstream transcript variant, synonymous variant, non coding transcript variant
rs773740057	A>-	Pathogenic	Coding sequence variant, genic downstream transcript variant, stop gained, non coding transcript variant
rs773881370	A>T	Pathogenic	Coding sequence variant, genic downstream transcript variant, missense variant, non coding transcript variant
rs777158229	G>A,C	Likely-pathogenic	Genic downstream transcript variant, stop gained, coding sequence variant, missense variant
rs778205727	G>A	Conflicting-interpretations-of-pathogenicity	Genic downstream transcript variant, coding sequence variant, non coding transcript variant, missense variant
rs778858648	T>G	Uncertain-significance, pathogenic	Genic downstream transcript variant, coding sequence variant, missense variant
rs779823379	C>A,T	Pathogenic	Genic downstream transcript variant, coding sequence variant, non coding transcript variant, missense variant
rs780673487	C>G,T	Uncertain-significance, likely-pathogenic	Genic downstream transcript variant, coding sequence variant, missense variant
rs780814559	G>A,T	Pathogenic	Non coding transcript variant, genic downstream transcript variant, stop gained, coding sequence variant, missense variant
rs781252161	C>T	Pathogenic	Genic downstream transcript variant, stop gained, coding sequence variant, non coding transcript variant
rs786205568	G>A	Likely-pathogenic	Genic downstream transcript variant, splice donor variant
rs794729225	GAA>-	Likely-pathogenic	Genic downstream transcript variant, coding sequence variant, inframe deletion
rs794729226	CT>-	Likely-pathogenic, pathogenic	Genic downstream transcript variant, frameshift variant, coding sequence variant
rs797044636	->C	Pathogenic	Genic downstream transcript variant, frameshift variant, coding sequence variant, non coding transcript variant
rs797045437	GACA>-	Pathogenic, pathogenic-likely-pathogenic	Genic downstream transcript variant, frameshift variant, coding sequence variant
rs863225168	T>C	Pathogenic	Genic downstream transcript variant, coding sequence variant, missense variant
rs863225169	G>C	Pathogenic	Genic downstream transcript variant, coding sequence variant, non coding transcript variant, missense variant
rs863225170	T>C	Pathogenic	Genic downstream transcript variant, coding sequence variant, non coding transcript variant, missense variant
rs863225171	->GGTT	Pathogenic	Genic downstream transcript variant, frameshift variant, coding sequence variant, non coding transcript variant
rs863225172	G>T	Pathogenic	Genic downstream transcript variant, splice acceptor variant
rs863225173	T>C	Pathogenic	Non coding transcript variant, genic downstream transcript variant, coding sequence variant, downstream transcript variant, missense variant
rs863225174	A>G	Pathogenic	Genic downstream transcript variant, coding sequence variant, missense variant
rs863225175	CTCT>-	Pathogenic	Genic downstream transcript variant, frameshift variant, coding sequence variant
rs863225176	T>C	Pathogenic	Genic downstream transcript variant, coding sequence variant, missense variant
rs863225177	AGA>-	Pathogenic	Genic downstream transcript variant, coding sequence variant, non coding transcript variant, inframe indel
rs863225178	G>A,C	Pathogenic	Genic downstream transcript variant, coding sequence variant, non coding transcript variant, missense variant
rs863225179	A>C	Pathogenic	Genic downstream transcript variant, coding sequence variant, missense variant
rs863225181	G>A	Uncertain-significance, likely-pathogenic	Genic downstream transcript variant, intron variant
rs886044295	G>A	Pathogenic	Splice donor variant, genic downstream transcript variant
rs896947430	C>T	Pathogenic-likely-pathogenic	Stop gained, genic upstream transcript variant, coding sequence variant, upstream transcript variant, non coding transcript variant
rs1064793618	A>-	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1064794798	G>A,C	Likely-pathogenic	Genic downstream transcript variant, coding sequence variant, missense variant
rs1131691659	T>A	Pathogenic	Genic downstream transcript variant, coding sequence variant, non coding transcript variant, stop gained
rs1176927796	TTTTC>-	Likely-pathogenic	Coding sequence variant, frameshift variant, genic downstream transcript variant
rs1179041639	T>C	Pathogenic	Genic downstream transcript variant, splice donor variant
rs1288358527	C>A,T	Pathogenic	Stop gained, genic downstream transcript variant, non coding transcript variant, coding sequence variant, missense variant
rs1313708855	->G	Pathogenic	Genic downstream transcript variant, coding sequence variant, frameshift variant
rs1392635342	->TA	Likely-pathogenic	Genic downstream transcript variant, frameshift variant, non coding transcript variant, coding sequence variant
rs1433294475	G>-	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1553827236	G>A	Pathogenic	Splice donor variant, genic downstream transcript variant
rs1553845300	G>T	Pathogenic	Stop gained, coding sequence variant, genic downstream transcript variant
rs1553845302	C>T	Pathogenic	Stop gained, coding sequence variant, genic downstream transcript variant
rs1553845569	A>G	Likely-pathogenic	Splice acceptor variant, genic downstream transcript variant
rs1560166511	CAG>AA	Pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant, genic downstream transcript variant
rs1560180188	G>A	Pathogenic	Non coding transcript variant, stop gained, coding sequence variant, genic downstream transcript variant
rs1560184664	TA>-	Likely-pathogenic	Coding sequence variant, non coding transcript variant, downstream transcript variant, frameshift variant, genic downstream transcript variant
rs1560188288	G>A	Pathogenic	Non coding transcript variant, stop gained, coding sequence variant, genic downstream transcript variant
rs1560196436	GTTT>-	Pathogenic	Stop gained, coding sequence variant, genic downstream transcript variant
rs1577309042	A>TC	Likely-pathogenic	Genic upstream transcript variant, frameshift variant, upstream transcript variant, non coding transcript variant, coding sequence variant
rs1577340510	G>-	Pathogenic	Genic downstream transcript variant, frameshift variant, non coding transcript variant, coding sequence variant
rs1577372471	G>A	Pathogenic	Genic downstream transcript variant, splice donor variant
rs1577396376	AC>-	Pathogenic	Genic downstream transcript variant, frameshift variant, coding sequence variant
rs1577406415	T>G	Likely-pathogenic	Genic downstream transcript variant, coding sequence variant, missense variant

Show/Hide all(159)

miRTarBase ID	miRNA	Experiments	Reference
MIRT022941	hsa-miR-124-3p	Microarray	18668037
MIRT049128	hsa-miR-92a-3p	CLASH	23622248
MIRT543392	hsa-miR-3133	PAR-CLIP	21572407
MIRT543391	hsa-miR-186-5p	PAR-CLIP	21572407
MIRT543390	hsa-miR-583	PAR-CLIP	21572407
MIRT543389	hsa-miR-32-3p	PAR-CLIP	21572407
MIRT543388	hsa-miR-4463	PAR-CLIP	21572407
MIRT543387	hsa-miR-142-5p	PAR-CLIP	21572407
MIRT543386	hsa-miR-5590-3p	PAR-CLIP	21572407
MIRT543385	hsa-miR-4329	PAR-CLIP	21572407
MIRT543384	hsa-miR-6861-5p	PAR-CLIP	21572407
MIRT543383	hsa-miR-873-3p	PAR-CLIP	21572407
MIRT543382	hsa-miR-555	PAR-CLIP	21572407
MIRT543381	hsa-miR-340-5p	PAR-CLIP	21572407
MIRT543380	hsa-miR-3672	PAR-CLIP	21572407
MIRT543379	hsa-miR-6864-3p	PAR-CLIP	21572407
MIRT440993	hsa-miR-544a	HITS-CLIP	24374217
MIRT440993	hsa-miR-544a	HITS-CLIP	24374217
MIRT543392	hsa-miR-3133	PAR-CLIP	21572407
MIRT543391	hsa-miR-186-5p	PAR-CLIP	21572407
MIRT543390	hsa-miR-583	PAR-CLIP	21572407
MIRT543389	hsa-miR-32-3p	PAR-CLIP	21572407
MIRT543388	hsa-miR-4463	PAR-CLIP	21572407
MIRT543387	hsa-miR-142-5p	PAR-CLIP	21572407
MIRT543386	hsa-miR-5590-3p	PAR-CLIP	21572407
MIRT543385	hsa-miR-4329	PAR-CLIP	21572407
MIRT543384	hsa-miR-6861-5p	PAR-CLIP	21572407
MIRT543383	hsa-miR-873-3p	PAR-CLIP	21572407
MIRT543382	hsa-miR-555	PAR-CLIP	21572407
MIRT543381	hsa-miR-340-5p	PAR-CLIP	21572407
MIRT543380	hsa-miR-3672	PAR-CLIP	21572407
MIRT543379	hsa-miR-6864-3p	PAR-CLIP	21572407
MIRT867105	hsa-miR-1273f	CLIP-seq
MIRT867106	hsa-miR-129-5p	CLIP-seq
MIRT867107	hsa-miR-143	CLIP-seq
MIRT867108	hsa-miR-186	CLIP-seq
MIRT867109	hsa-miR-340	CLIP-seq
MIRT867110	hsa-miR-3655	CLIP-seq
MIRT867111	hsa-miR-4251	CLIP-seq
MIRT867112	hsa-miR-4279	CLIP-seq
MIRT867113	hsa-miR-4303	CLIP-seq
MIRT867114	hsa-miR-4708-5p	CLIP-seq
MIRT867115	hsa-miR-4762-3p	CLIP-seq
MIRT867116	hsa-miR-4770	CLIP-seq
MIRT867117	hsa-miR-548t	CLIP-seq
MIRT1957358	hsa-miR-150	CLIP-seq
MIRT867108	hsa-miR-186	CLIP-seq
MIRT867109	hsa-miR-340	CLIP-seq
MIRT1957359	hsa-miR-4726-3p	CLIP-seq
MIRT1957360	hsa-miR-498	CLIP-seq
MIRT2194304	hsa-miR-125a-3p	CLIP-seq
MIRT867105	hsa-miR-1273f	CLIP-seq
MIRT2194305	hsa-miR-136	CLIP-seq
MIRT1957358	hsa-miR-150	CLIP-seq
MIRT867108	hsa-miR-186	CLIP-seq
MIRT2194306	hsa-miR-1915	CLIP-seq
MIRT2194307	hsa-miR-3155	CLIP-seq
MIRT2194308	hsa-miR-3155b	CLIP-seq
MIRT2194309	hsa-miR-3170	CLIP-seq
MIRT2194310	hsa-miR-3200-5p	CLIP-seq
MIRT2194311	hsa-miR-33a	CLIP-seq
MIRT2194312	hsa-miR-33b	CLIP-seq
MIRT867109	hsa-miR-340	CLIP-seq
MIRT2194313	hsa-miR-3545-3p	CLIP-seq
MIRT2194314	hsa-miR-3663-5p	CLIP-seq
MIRT2194315	hsa-miR-3934	CLIP-seq
MIRT2194316	hsa-miR-4284	CLIP-seq
MIRT2194317	hsa-miR-4419a	CLIP-seq
MIRT2194318	hsa-miR-4438	CLIP-seq
MIRT2194319	hsa-miR-4510	CLIP-seq
MIRT2194320	hsa-miR-451b	CLIP-seq
MIRT2194321	hsa-miR-4635	CLIP-seq
MIRT2194322	hsa-miR-4680-5p	CLIP-seq
MIRT2194323	hsa-miR-4710	CLIP-seq
MIRT2194324	hsa-miR-4716-5p	CLIP-seq
MIRT1957359	hsa-miR-4726-3p	CLIP-seq
MIRT2194325	hsa-miR-4781-3p	CLIP-seq
MIRT2194326	hsa-miR-4787-3p	CLIP-seq
MIRT2194327	hsa-miR-4792	CLIP-seq
MIRT2194328	hsa-miR-484	CLIP-seq
MIRT1957360	hsa-miR-498	CLIP-seq
MIRT2194329	hsa-miR-5095	CLIP-seq
MIRT2194330	hsa-miR-515-5p	CLIP-seq
MIRT2194331	hsa-miR-562	CLIP-seq
MIRT2194332	hsa-miR-764	CLIP-seq
MIRT2446292	hsa-miR-1267	CLIP-seq
MIRT867105	hsa-miR-1273f	CLIP-seq
MIRT2446293	hsa-miR-1289	CLIP-seq
MIRT867106	hsa-miR-129-5p	CLIP-seq
MIRT867107	hsa-miR-143	CLIP-seq
MIRT867108	hsa-miR-186	CLIP-seq
MIRT2446294	hsa-miR-3135	CLIP-seq
MIRT2446295	hsa-miR-3135b	CLIP-seq
MIRT2446296	hsa-miR-3149	CLIP-seq
MIRT2194309	hsa-miR-3170	CLIP-seq
MIRT2446297	hsa-miR-3194-3p	CLIP-seq
MIRT2446298	hsa-miR-3198	CLIP-seq
MIRT867109	hsa-miR-340	CLIP-seq
MIRT2446299	hsa-miR-3652	CLIP-seq
MIRT2446300	hsa-miR-3929	CLIP-seq
MIRT2446301	hsa-miR-411	CLIP-seq
MIRT2446302	hsa-miR-4294	CLIP-seq
MIRT2446303	hsa-miR-4309	CLIP-seq
MIRT2446304	hsa-miR-431	CLIP-seq
MIRT2446305	hsa-miR-4419b	CLIP-seq
MIRT2446306	hsa-miR-4423-5p	CLIP-seq
MIRT2446307	hsa-miR-4430	CLIP-seq
MIRT2446308	hsa-miR-4478	CLIP-seq
MIRT2446309	hsa-miR-4534	CLIP-seq
MIRT867114	hsa-miR-4708-5p	CLIP-seq
MIRT2446310	hsa-miR-4735-5p	CLIP-seq
MIRT867116	hsa-miR-4770	CLIP-seq
MIRT2446311	hsa-miR-4774-3p	CLIP-seq
MIRT2446312	hsa-miR-4775	CLIP-seq
MIRT2446313	hsa-miR-4794	CLIP-seq
MIRT2446314	hsa-miR-590-3p	CLIP-seq
MIRT2446315	hsa-miR-645	CLIP-seq
MIRT2446316	hsa-miR-924	CLIP-seq
MIRT867108	hsa-miR-186	CLIP-seq
MIRT867109	hsa-miR-340	CLIP-seq
MIRT867105	hsa-miR-1273f	CLIP-seq
MIRT867106	hsa-miR-129-5p	CLIP-seq
MIRT1957358	hsa-miR-150	CLIP-seq
MIRT867108	hsa-miR-186	CLIP-seq
MIRT2194306	hsa-miR-1915	CLIP-seq
MIRT2446296	hsa-miR-3149	CLIP-seq
MIRT2194309	hsa-miR-3170	CLIP-seq
MIRT867109	hsa-miR-340	CLIP-seq
MIRT2446301	hsa-miR-411	CLIP-seq
MIRT2194318	hsa-miR-4438	CLIP-seq
MIRT1957359	hsa-miR-4726-3p	CLIP-seq
MIRT2446310	hsa-miR-4735-5p	CLIP-seq
MIRT2446312	hsa-miR-4775	CLIP-seq
MIRT2194326	hsa-miR-4787-3p	CLIP-seq
MIRT2446313	hsa-miR-4794	CLIP-seq
MIRT1957360	hsa-miR-498	CLIP-seq
MIRT2194329	hsa-miR-5095	CLIP-seq
MIRT2194330	hsa-miR-515-5p	CLIP-seq
MIRT2194331	hsa-miR-562	CLIP-seq
MIRT2446314	hsa-miR-590-3p	CLIP-seq
MIRT867105	hsa-miR-1273f	CLIP-seq
MIRT867106	hsa-miR-129-5p	CLIP-seq
MIRT1957358	hsa-miR-150	CLIP-seq
MIRT867108	hsa-miR-186	CLIP-seq
MIRT2194306	hsa-miR-1915	CLIP-seq
MIRT2446296	hsa-miR-3149	CLIP-seq
MIRT2194309	hsa-miR-3170	CLIP-seq
MIRT867109	hsa-miR-340	CLIP-seq
MIRT2446301	hsa-miR-411	CLIP-seq
MIRT2194318	hsa-miR-4438	CLIP-seq
MIRT1957359	hsa-miR-4726-3p	CLIP-seq
MIRT2446310	hsa-miR-4735-5p	CLIP-seq
MIRT2446312	hsa-miR-4775	CLIP-seq
MIRT2194326	hsa-miR-4787-3p	CLIP-seq
MIRT2446313	hsa-miR-4794	CLIP-seq
MIRT1957360	hsa-miR-498	CLIP-seq
MIRT2194329	hsa-miR-5095	CLIP-seq
MIRT2194331	hsa-miR-562	CLIP-seq
MIRT2446314	hsa-miR-590-3p	CLIP-seq

Show/Hide all(27)

GO ID	Ontology	Definition	Evidence
GO:0001822	Process	Kidney development	IEA
GO:0001843	Process	Neural tube closure	IEA
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	TAS
GO:0005856	Component	Cytoskeleton	IEA
GO:0005929	Component	Cilium	IEA
GO:0007224	Process	Smoothened signaling pathway	IEA
GO:0007224	Process	Smoothened signaling pathway	ISS
GO:0007368	Process	Determination of left/right symmetry	IEA
GO:0007507	Process	Heart development	IEA
GO:0030030	Process	Cell projection organization	IEA
GO:0035082	Process	Axoneme assembly	IEA
GO:0035869	Component	Ciliary transition zone	IBA
GO:0035869	Component	Ciliary transition zone	IEA
GO:0035869	Component	Ciliary transition zone	ISS
GO:0036038	Component	MKS complex	IEA
GO:0036038	Component	MKS complex	ISS
GO:0042995	Component	Cell projection	IEA
GO:0043010	Process	Camera-type eye development	IEA
GO:0044458	Process	Motile cilium assembly	IEA
GO:0060271	Process	Cilium assembly	IEA
GO:0060271	Process	Cilium assembly	ISS
GO:1904491	Process	Protein localization to ciliary transition zone	IBA
GO:1904491	Process	Protein localization to ciliary transition zone	IEA
GO:1905515	Process	Non-motile cilium assembly	IBA
GO:1905515	Process	Non-motile cilium assembly	IEA
GO:1990403	Process	Embryonic brain development	IEA

MIM	HGNC	e!Ensembl
612013	29253	ENSG00000048342

Protein

UniProt ID

Q9P2K1

Protein name

Coiled-coil and C2 domain-containing protein 2A

Protein function

Component of the tectonic-like complex, a complex localized at the transition zone of primary cilia and acting as a barrier that prevents diffusion of transmembrane proteins between the cilia and plasma membranes. Required for ciliogenesis and s

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF17661	DUF5523	131 → 383	Family of unknown function (DUF5523)	Family
PF15625	CC2D2AN-C2	645 → 819	CC2D2A N-terminal C2 domain	Domain
PF00168	C2	1041 → 1205	C2 domain	Domain

Tissue specificity

TISSUE SPECIFICITY: Strongly expressed in prostate, pancreas, kidney, lung, liver, retina, kidney, fetal brain and fetal kidney. Lower expression in spleen, small intestine, colon, skeletal muscle, ovary, thymus and heart. {ECO:0000269|PubMed:18387594, EC

Sequence

MNPREEKVKIITEEFIENDEDADMGRQNKNSKVRRQPRKKQPPTAVPKEMVSEKSHLGNP
QEPVQEEPKTRLLSMTVRRGPRSLPPIPSTSRTGFAEFSMRGRMREKLQAARSKAESALL
QEIPTPRPRRLRSPSKKELETEFGTEPGKEVERTQQEVDSQSYSRVKFHDSARKIKPKPQ
VPPGFPSAEEAYNFFTFNFDPEPEGSEEKPKARHRAGTNQEEEEGEEEEPPAQGGGKEMD
EEELLNGDDAEDFLLGLDHVADDFVAVRPADYESIHDRLQMEREMLFIPSRQTVPTYKKL
PENVQPRFLEDEGLYTGVRPEVARTNQNIMENRLLMQDPERRWFGDDGRILALPNPIKPF
PSRPPVLTQEQSIKAELETLYKKAVKYVHSSQHVIRSGDPPGNFQLDIDISGLIFTHHPC
FSREHVLAAKLAQLYDQYLARHQRNKAKFLTDKLQALRNAVQTGLDPEKPHQSLDTIQKT
INEYKSEIRQTRKFRDAEQEKDRTLLKTIIKVWKEMKSLREFQRFTNTPLKLVLRKEKAD
QKADEEAYEAEIQAEISELLEEHTEEYAQKMEEYRTSLQQWKAWRKVQRAKKKKRKQAAE
EHPGDEIAEPYPEEDLVKPSPPEPTDRAVIEQEVRERAAQSRRRPWEPTLVPELSLAGSV
TPNDQCPRAEVSRREDVKKRSVYLKVLFNNKEVSRTVSRPLGADFRVHFGQIFNLQIVNW
PESLTLQVYETVGHSSPTLLAEVFLPIPETTVVTGRAPTEEVEFSSNQHVTLDHEGVGSG
VPFSFEADGSNQLTLMTSGKVSHSVAWAIGENGIPLIPPLSQQNIGFRSALKKADAISSI
GTSGLTDMKKLAKWAAESKLDPNDPNNAPLMQLISVATSGESYVPDFFRLEQLQQEFNFV
SDQELNRSKRFRLLHLRSQEVPEFRNYKQVPVYDREIMEKVFQDYEKRLRDRNVIETKEH
IDTHRAIVAKYLQQVRESVINRFLIAKQYFLLADMIVEEEVPNISILGLSLFKLAEQKRP
LRPRRKGRKKVTAQNLSDGDIKLLVNIVRAYDIPVRKPAVSKFQQPSRSSRMFSEKHAAS
PSTYSPTHNADYPLGQVLVRPFVEVSFQRTVCHTTTAEGPNPSWNEELELPFRAPNGDYS
TASLQSVKDVVFINIFDEVLHDVLEDDRERGSGIHTRIERHWLGCVKMPFSTIYFQARID
GTFKIDIPPVLLGYSKERNMILERGFDSVRSLSEGSYITLFITIEPQLVPGESIREKFES
QEDEKLLQATEKFQAECALKFPNRQCLTTVIDISGKTVFITRYLKPLNPPQELLNVYPNN
LQATAELVARYVSLIPFLPDTVSFGGICDLWSTSDQFLDLLAGDEEEHAVLLCNYFLSLG
KKAWLLMGNAIPEGPTAYVLTWEQGRYLIWNPCSGHFYGQFDTFCPLKNVGCLIGPDNIW
FNIQRYESPLRINFDVTRPKLWKSFFSRSLPYPGLSSVQPEELIYQRSDKAAAAELQDRI
EKILKEKIMDWRPRHLTRWNRYCTSTLRHFLPLLEKSQGEDVEDDHRAELLKQLGDYRFS
GFPLHMPYSEVKPLIDAVYSTGVHNIDVPNVEFALAVYIHPYPKNVLSVWIYVASLIRNR

Sequence length

1620

Interactions

View interactions

	Reactome
			Anchoring of the basal body to the plasma membrane

Show/Hide Causal Diseases (7)

Disease merge term	Disease name	dbSNP ID	References
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Cerebellar vermis agenesis	familial aplasia of the vermis	rs201502401	N/A
Joubert Syndrome	Joubert syndrome 9, joubert syndrome 1, Joubert syndrome and related disorders	rs763735590, rs754221308, rs2109050324, rs757208121, rs200904521, rs386833749, rs386833759, rs377177061, rs863225178, rs863225176, rs386833757, rs118204052, rs1553827236, rs773881370, rs863225168 View all (23 more)	N/A
Joubert syndrome with congenital hepatic fibrosis	COACH syndrome 1	rs1553845300, rs386833757, rs1560184664, rs201502401	N/A
Meckel syndrome	Meckel syndrome, type 6	rs386833755, rs375278294, rs1577406415, rs386833759, rs386833756, rs386833757, rs116358011, rs386833750, rs377177061, rs386833751, rs118204052, rs386833760, rs386833752, rs386833745, rs1560184664 View all (11 more)	N/A
Meckel-Gruber Syndrome	meckel-gruber syndrome	rs377177061, rs386833760	N/A
retinal dystrophy	Retinal dystrophy	rs386833749, rs377177061	N/A
Polydactyly	polydactyly	rs386833752	N/A

Show/Hide Unknown Diseases (7)

Disease merge term	Disease name	Evidence	References	Source
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Conduct Disorder	Conduct disorder	N/A	N/A	GWAS
Dementia	Dementia	N/A	N/A	GWAS
Glioblastoma	Glioblastoma	N/A	N/A	GWAS
Joubert Syndrome With Oculorenal Defect	Joubert syndrome with oculorenal defect	N/A	N/A	GenCC
Microcephaly	microcephaly	N/A	N/A	ClinVar
Optic Atrophy	optic atrophy	N/A	N/A	ClinVar
Retinitis Pigmentosa	retinitis pigmentosa 93, Retinitis pigmentosa 93	N/A	N/A	GenCC, ClinVar

Show/Hide Text Mining Associations (30)

Disease Name	Relationship Type	References
Associations from Text Mining Disease associations identified through Pubtator
Agenesis of Cerebellar Vermis	Associate	18950740, 19574260, 23692786, 24706459, 31577543, 33486889, 34182252, 37107568, 37131188, 37735380, 37910852, 38502237
Agenesis of Corpus Callosum	Associate	33270637
Apraxia oculomotor Cogan type	Associate	31577543, 37131188
Bardet Biedl Syndrome	Associate	35960079
Cerebral Palsy	Associate	34580524
Ciliopathies	Associate	18950740, 21068128, 26862157, 33486889
COACH syndrome	Associate	19574260
Congenital Microtia	Associate	24983964
Cysts	Associate	18950740
Developmental Disabilities	Associate	31577543
Dyspnea	Associate	34435324
Genetic Diseases Inborn	Associate	33486889
Glomerulosclerosis Focal Segmental	Associate	34435324
Glycosuria Renal	Associate	35960079
Hepatic Fibrosis Congenital	Associate	19574260
Intellectual Disability	Associate	31577543, 34435324
Joubert Syndrome 9	Associate	37107568
Kidney Diseases	Associate	34435324
Kidney Diseases Cystic	Associate	26862157
Meckel syndrome type 1	Associate	18513680, 19777577, 21493627, 24706459, 25920555, 33486889, 34981460
Mental Retardation Autosomal Recessive 4	Associate	34580524
Neoplastic Syndromes Hereditary	Associate	18950740
Nephronophthisis 2	Associate	21866095
Nephronophthisis familial juvenile	Associate	21866095, 34435324
Nystagmus Pathologic	Associate	31577543
Obesity	Associate	31577543
Paraplegia	Associate	31577543
Polydactyly Postaxial	Associate	34435324
Psychological Trauma	Associate	34580524
Retinal Diseases	Associate	18950740

CC2D2A (coiled-coil and C2 domain containing 2A)