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.	91147
Gene name Gene Name - the full gene name approved by the HGNC.	Transmembrane protein 67
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	TMEM67
Synonyms (NCBI Gene) Gene synonyms aliases	JBTS6, MECKELIN, MKS3, NPHP11, TNEM67
Chromosome Chromosome number	8
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	8q22.1
Summary Summary of gene provided in NCBI Entrez Gene.	The protein encoded by this gene localizes to the primary cilium and to the plasma membrane. The gene functions in centriole migration to the apical membrane and formation of the primary cilium. Multiple transcript variants encoding different isoforms hav

Show/Hide all(105)

SNP ID	Visualize variation	Clinical significance	Consequence
rs34779331	C>A,T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, 5 prime UTR variant, non coding transcript variant, missense variant
rs35765535	C>G	Likely-benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, non coding transcript variant, missense variant
rs111619594	A>T	Benign, conflicting-interpretations-of-pathogenicity, risk-factor, uncertain-significance	Coding sequence variant, intron variant, missense variant, non coding transcript variant
rs111991507	A>G	Conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, intron variant, synonymous variant, non coding transcript variant
rs115563233	G>A	Uncertain-significance, likely-benign, conflicting-interpretations-of-pathogenicity	Synonymous variant, non coding transcript variant, coding sequence variant
rs115640152	C>T	Conflicting-interpretations-of-pathogenicity	Synonymous variant, non coding transcript variant, coding sequence variant, 5 prime UTR variant
rs116445698	C>T	Benign-likely-benign, conflicting-interpretations-of-pathogenicity	Non coding transcript variant, missense variant, coding sequence variant
rs116647652	C>A,T	Likely-benign, pathogenic	Synonymous variant, non coding transcript variant, stop gained, coding sequence variant
rs137853106	A>C	Pathogenic	Non coding transcript variant, intron variant, coding sequence variant, missense variant
rs137853107	A>G,T	Pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs137853108	A>T	Pathogenic	Non coding transcript variant, intron variant, stop gained, coding sequence variant
rs145236803	C>T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, non coding transcript variant, missense variant
rs148726767	A>C,G	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Coding sequence variant, non coding transcript variant, missense variant
rs199821258	T>G	Pathogenic, likely-pathogenic	Splice donor variant, intron variant
rs201893408	T>A,C	Pathogenic, likely-pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs202149403	T>C,G	Pathogenic	Non coding transcript variant, missense variant, intron variant, coding sequence variant
rs267607114	G>A	Pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs267607115	T>C	Pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs267607116	G>A,C	Pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs267607117	G>T	Pathogenic	Non coding transcript variant, missense variant, intron variant, coding sequence variant
rs267607118	C>T	Pathogenic	Stop gained, non coding transcript variant, coding sequence variant, 5 prime UTR variant
rs267607119	T>C	Pathogenic, pathogenic-likely-pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs375824494	G>A	Likely-pathogenic, uncertain-significance	Coding sequence variant, missense variant, 5 prime UTR variant, non coding transcript variant
rs386834180	T>C	Likely-pathogenic, pathogenic	Coding sequence variant, missense variant, intron variant, non coding transcript variant
rs386834181	G>-	Likely-pathogenic	Coding sequence variant, intron variant, splice donor variant, non coding transcript variant
rs386834182	G>A	Likely-pathogenic, uncertain-significance	Coding sequence variant, missense variant, non coding transcript variant
rs386834183	G>A,T	Likely-pathogenic, uncertain-significance	Coding sequence variant, missense variant, non coding transcript variant
rs386834184	G>C,T	Likely-pathogenic	Coding sequence variant, missense variant, non coding transcript variant
rs386834185	G>C,T	Likely-pathogenic, pathogenic	Splice acceptor variant
rs386834186	AT>-	Likely-pathogenic	Coding sequence variant, non coding transcript variant, stop gained
rs386834187	G>A	Pathogenic-likely-pathogenic	Splice donor variant
rs386834188	A>G	Likely-pathogenic	Coding sequence variant, missense variant, 5 prime UTR variant, non coding transcript variant
rs386834189	T>C	Likely-pathogenic	Coding sequence variant, missense variant, non coding transcript variant
rs386834190	A>-	Likely-pathogenic	Intron variant, splice acceptor variant
rs386834191	T>-	Likely-pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs386834192	->T	Likely-pathogenic, uncertain-significance	Splice donor variant
rs386834193	G>A,C,T	Likely-pathogenic, uncertain-significance	Coding sequence variant, missense variant, non coding transcript variant
rs386834194	A>G	Likely-pathogenic	Coding sequence variant, missense variant, non coding transcript variant
rs386834195	G>T	Likely-pathogenic	Coding sequence variant, non coding transcript variant, stop gained
rs386834196	A>T	Likely-pathogenic	Coding sequence variant, non coding transcript variant, stop gained
rs386834197	->A	Likely-pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs386834198	->TA	Likely-pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs386834199	T>C	Likely-pathogenic	Coding sequence variant, missense variant, non coding transcript variant
rs386834200	AC>-	Pathogenic-likely-pathogenic	Coding sequence variant, frameshift variant, 5 prime UTR variant, non coding transcript variant
rs386834201	T>A	Likely-pathogenic	Coding sequence variant, non coding transcript variant, stop gained, missense variant, 5 prime UTR variant
rs386834202	AG>-	Likely-pathogenic, pathogenic	Coding sequence variant, frameshift variant, intron variant, non coding transcript variant
rs386834203	A>-	Pathogenic	Coding sequence variant, frameshift variant, intron variant, non coding transcript variant
rs386834204	A>-	Pathogenic-likely-pathogenic	Coding sequence variant, frameshift variant, intron variant, non coding transcript variant
rs386834205	G>A	Likely-pathogenic, pathogenic	Coding sequence variant, intron variant, non coding transcript variant, stop gained
rs386834206	C>T	Likely-pathogenic	Coding sequence variant, missense variant, intron variant, non coding transcript variant
rs386834207	A>G	Pathogenic-likely-pathogenic	Intron variant, splice acceptor variant
rs386834208	G>T	Likely-pathogenic	Coding sequence variant, missense variant, intron variant, non coding transcript variant
rs587779736	G>A	Likely-pathogenic	Missense variant, non coding transcript variant, coding sequence variant, intron variant
rs749435317	A>-	Likely-pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs750950408	G>A,T	Pathogenic	Missense variant, coding sequence variant, non coding transcript variant, intron variant
rs751309268	C>A,T	Pathogenic	Coding sequence variant, synonymous variant, stop gained, intron variant, 5 prime UTR variant, non coding transcript variant
rs751517725	C>G,T	Pathogenic	Missense variant, coding sequence variant, non coding transcript variant, stop gained
rs752362727	C>T	Likely-pathogenic, pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs756686115	G>C	Pathogenic	Intron variant
rs758948621	A>C	Pathogenic	Splice acceptor variant
rs762543032	C>T	Pathogenic	5 prime UTR variant, missense variant, non coding transcript variant, coding sequence variant, intron variant
rs765468645	C>T	Likely-pathogenic, pathogenic	Intron variant, non coding transcript variant, coding sequence variant, stop gained
rs769957689	C>A	Pathogenic	Stop gained, non coding transcript variant, intron variant, coding sequence variant
rs771551765	G>A	Uncertain-significance, likely-pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs772437766	C>G,T	Conflicting-interpretations-of-pathogenicity, pathogenic	Missense variant, 5 prime UTR variant, non coding transcript variant, intron variant, coding sequence variant
rs775256658	A>G	Pathogenic	Intron variant
rs775883520	A>G	Pathogenic, likely-pathogenic	Non coding transcript variant, missense variant, intron variant, coding sequence variant
rs786200867	G>T	Pathogenic	Splice donor variant
rs786200868	G>A	Pathogenic	Intron variant
rs786205126	CTT>-	Pathogenic	Inframe deletion, non coding transcript variant, coding sequence variant
rs786205592	C>G	Likely-pathogenic	Intron variant, non coding transcript variant, coding sequence variant, missense variant
rs786205608	A>G	Pathogenic	Splice acceptor variant
rs797046045	G>T	Uncertain-significance, likely-pathogenic	5 prime UTR variant, non coding transcript variant, missense variant, intron variant, coding sequence variant
rs863225224	A>G	Pathogenic	Intron variant
rs863225225	C>A	Pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs863225226	C>G	Pathogenic	5 prime UTR variant, non coding transcript variant, missense variant, synonymous variant, coding sequence variant
rs863225227	A>G	Pathogenic	Intron variant, non coding transcript variant, coding sequence variant, missense variant
rs863225228	C>T	Pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs863225229	A>G	Pathogenic	Intron variant, non coding transcript variant, coding sequence variant, missense variant
rs863225230	C>A	Pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs863225231	C>G	Pathogenic	Intron variant, non coding transcript variant, coding sequence variant, missense variant
rs863225232	C>T	Pathogenic	Intron variant, non coding transcript variant, coding sequence variant, missense variant
rs863225233	T>G	Pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs863225234	A>C	Pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs863225235	C>A	Pathogenic, likely-pathogenic	Intron variant, non coding transcript variant, coding sequence variant, missense variant
rs863225236	G>A	Pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs863225237	G>A,C,T	Pathogenic	Non coding transcript variant, stop gained, missense variant, intron variant, coding sequence variant
rs863225238	C>T	Likely-pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs863225239	G>A	Likely-pathogenic	Intron variant
rs863225240	G>-	Likely-pathogenic	Intron variant
rs886039810	G>C	Likely-pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs967792092	A>G	Pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs1064792983	ATGAGTAATGTAA>GG	Pathogenic	Splice donor variant, non coding transcript variant, coding sequence variant, intron variant
rs1064794003	G>A	Pathogenic	Stop gained, non coding transcript variant, coding sequence variant, intron variant
rs1064795843	T>-	Likely-pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs1554555063	G>A	Likely-pathogenic	Intron variant
rs1554557920	TGAGTAATGTAA>G	Pathogenic	Coding sequence variant, splice donor variant, intron variant, non coding transcript variant
rs1554558363	G>T	Pathogenic	Coding sequence variant, stop gained, non coding transcript variant
rs1554558365	->TATGAA	Likely-pathogenic	Coding sequence variant, inframe insertion, non coding transcript variant
rs1554614771	T>-	Pathogenic	Coding sequence variant, frameshift variant, 5 prime UTR variant, non coding transcript variant
rs1554615516	C>T	Pathogenic	Coding sequence variant, stop gained, intron variant, non coding transcript variant
rs1563672487	T>A	Likely-pathogenic	Non coding transcript variant, 5 prime UTR variant, coding sequence variant, stop gained, intron variant
rs1586051330	->A	Pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs1586074742	->CAGTGTCT	Pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs1586336362	T>G	Likely-pathogenic	Intron variant

Show/Hide all(254)

miRTarBase ID	miRNA	Experiments	Reference
MIRT712867	hsa-miR-758-5p	HITS-CLIP	19536157
MIRT712866	hsa-miR-8069	HITS-CLIP	19536157
MIRT712865	hsa-miR-103a-2-5p	HITS-CLIP	19536157
MIRT712864	hsa-miR-380-5p	HITS-CLIP	19536157
MIRT712863	hsa-miR-563	HITS-CLIP	19536157
MIRT712862	hsa-miR-5007-3p	HITS-CLIP	19536157
MIRT712861	hsa-miR-183-3p	HITS-CLIP	19536157
MIRT712860	hsa-miR-4452	HITS-CLIP	19536157
MIRT652372	hsa-miR-383-3p	HITS-CLIP	23824327
MIRT652371	hsa-miR-6730-3p	HITS-CLIP	23824327
MIRT652370	hsa-miR-3612	HITS-CLIP	23824327
MIRT652369	hsa-miR-650	HITS-CLIP	23824327
MIRT652367	hsa-miR-7977	HITS-CLIP	23824327
MIRT652368	hsa-miR-4443	HITS-CLIP	23824327
MIRT652366	hsa-miR-6515-5p	HITS-CLIP	23824327
MIRT652365	hsa-miR-7850-5p	HITS-CLIP	23824327
MIRT533706	hsa-miR-32-3p	PAR-CLIP	22012620
MIRT533704	hsa-miR-6760-3p	PAR-CLIP	22012620
MIRT533705	hsa-miR-1208	PAR-CLIP	22012620
MIRT533703	hsa-miR-16-1-3p	PAR-CLIP	22012620
MIRT533702	hsa-miR-1304-3p	PAR-CLIP	22012620
MIRT533701	hsa-miR-4757-5p	PAR-CLIP	22012620
MIRT533700	hsa-miR-6744-3p	PAR-CLIP	22012620
MIRT533699	hsa-miR-4697-3p	PAR-CLIP	22012620
MIRT533698	hsa-miR-223-3p	PAR-CLIP	22012620
MIRT533697	hsa-miR-4775	PAR-CLIP	22012620
MIRT533695	hsa-miR-6878-3p	PAR-CLIP	22012620
MIRT533696	hsa-miR-4512	PAR-CLIP	22012620
MIRT496632	hsa-miR-217	PAR-CLIP	22291592
MIRT496631	hsa-miR-6807-3p	PAR-CLIP	22291592
MIRT496630	hsa-miR-8063	PAR-CLIP	22291592
MIRT496629	hsa-miR-1273g-3p	PAR-CLIP	22291592
MIRT496628	hsa-miR-20a-3p	PAR-CLIP	22291592
MIRT496627	hsa-miR-4481	PAR-CLIP	22291592
MIRT496626	hsa-miR-4745-5p	PAR-CLIP	22291592
MIRT496625	hsa-miR-4252	PAR-CLIP	22291592
MIRT496624	hsa-miR-3926	PAR-CLIP	22291592
MIRT496623	hsa-miR-4640-5p	PAR-CLIP	22291592
MIRT496622	hsa-miR-4726-5p	PAR-CLIP	22291592
MIRT496621	hsa-miR-6508-3p	PAR-CLIP	22291592
MIRT496620	hsa-miR-1227-3p	PAR-CLIP	22291592
MIRT439424	hsa-miR-106b-5p	HITS-CLIP	22473208
MIRT439423	hsa-miR-20a-5p	HITS-CLIP	22473208
MIRT439424	hsa-miR-106b-5p	HITS-CLIP	22473208
MIRT726283	hsa-miR-17-5p	HITS-CLIP	22473208
MIRT726284	hsa-miR-20b-5p	HITS-CLIP	22473208
MIRT726282	hsa-miR-93-5p	HITS-CLIP	22473208
MIRT726281	hsa-miR-519d-3p	HITS-CLIP	22473208
MIRT439423	hsa-miR-20a-5p	HITS-CLIP	22473208
MIRT712867	hsa-miR-758-5p	HITS-CLIP	19536157
MIRT712866	hsa-miR-8069	HITS-CLIP	19536157
MIRT712865	hsa-miR-103a-2-5p	HITS-CLIP	19536157
MIRT712864	hsa-miR-380-5p	HITS-CLIP	19536157
MIRT712863	hsa-miR-563	HITS-CLIP	19536157
MIRT712862	hsa-miR-5007-3p	HITS-CLIP	19536157
MIRT712861	hsa-miR-183-3p	HITS-CLIP	19536157
MIRT712860	hsa-miR-4452	HITS-CLIP	19536157
MIRT652372	hsa-miR-383-3p	HITS-CLIP	23824327
MIRT652371	hsa-miR-6730-3p	HITS-CLIP	23824327
MIRT652370	hsa-miR-3612	HITS-CLIP	23824327
MIRT652369	hsa-miR-650	HITS-CLIP	23824327
MIRT652367	hsa-miR-7977	HITS-CLIP	23824327
MIRT652368	hsa-miR-4443	HITS-CLIP	23824327
MIRT652366	hsa-miR-6515-5p	HITS-CLIP	23824327
MIRT652365	hsa-miR-7850-5p	HITS-CLIP	23824327
MIRT533706	hsa-miR-32-3p	PAR-CLIP	22012620
MIRT533704	hsa-miR-6760-3p	PAR-CLIP	22012620
MIRT533705	hsa-miR-1208	PAR-CLIP	22012620
MIRT533703	hsa-miR-16-1-3p	PAR-CLIP	22012620
MIRT533702	hsa-miR-1304-3p	PAR-CLIP	22012620
MIRT533701	hsa-miR-4757-5p	PAR-CLIP	22012620
MIRT533700	hsa-miR-6744-3p	PAR-CLIP	22012620
MIRT533699	hsa-miR-4697-3p	PAR-CLIP	22012620
MIRT533698	hsa-miR-223-3p	PAR-CLIP	22012620
MIRT533697	hsa-miR-4775	PAR-CLIP	22012620
MIRT533695	hsa-miR-6878-3p	PAR-CLIP	22012620
MIRT533696	hsa-miR-4512	PAR-CLIP	22012620
MIRT496632	hsa-miR-217	PAR-CLIP	22291592
MIRT496631	hsa-miR-6807-3p	PAR-CLIP	22291592
MIRT496630	hsa-miR-8063	PAR-CLIP	22291592
MIRT496629	hsa-miR-1273g-3p	PAR-CLIP	22291592
MIRT496628	hsa-miR-20a-3p	PAR-CLIP	22291592
MIRT496627	hsa-miR-4481	PAR-CLIP	22291592
MIRT496626	hsa-miR-4745-5p	PAR-CLIP	22291592
MIRT496625	hsa-miR-4252	PAR-CLIP	22291592
MIRT496624	hsa-miR-3926	PAR-CLIP	22291592
MIRT496623	hsa-miR-4640-5p	PAR-CLIP	22291592
MIRT496622	hsa-miR-4726-5p	PAR-CLIP	22291592
MIRT496621	hsa-miR-6508-3p	PAR-CLIP	22291592
MIRT496620	hsa-miR-1227-3p	PAR-CLIP	22291592
MIRT1438904	hsa-miR-2276	CLIP-seq
MIRT1438905	hsa-miR-300	CLIP-seq
MIRT1438906	hsa-miR-3163	CLIP-seq
MIRT1438907	hsa-miR-323-3p	CLIP-seq
MIRT1438908	hsa-miR-340	CLIP-seq
MIRT1438909	hsa-miR-381	CLIP-seq
MIRT1438910	hsa-miR-3938	CLIP-seq
MIRT1438911	hsa-miR-4666-3p	CLIP-seq
MIRT1438912	hsa-miR-4772-3p	CLIP-seq
MIRT1438913	hsa-miR-494	CLIP-seq
MIRT1438914	hsa-miR-520d-5p	CLIP-seq
MIRT1438915	hsa-miR-524-5p	CLIP-seq
MIRT1438916	hsa-miR-544	CLIP-seq
MIRT1438917	hsa-miR-548c-3p	CLIP-seq
MIRT1438918	hsa-miR-101	CLIP-seq
MIRT1438919	hsa-miR-1273f	CLIP-seq
MIRT1438920	hsa-miR-144	CLIP-seq
MIRT1438921	hsa-miR-2116	CLIP-seq
MIRT1438922	hsa-miR-3143	CLIP-seq
MIRT1438923	hsa-miR-3170	CLIP-seq
MIRT1438924	hsa-miR-3187-3p	CLIP-seq
MIRT1438925	hsa-miR-3941	CLIP-seq
MIRT1438926	hsa-miR-4310	CLIP-seq
MIRT1438927	hsa-miR-4435	CLIP-seq
MIRT1438928	hsa-miR-466	CLIP-seq
MIRT1438929	hsa-miR-4672	CLIP-seq
MIRT1438930	hsa-miR-4677-5p	CLIP-seq
MIRT1438931	hsa-miR-4687-3p	CLIP-seq
MIRT1438932	hsa-miR-4699-3p	CLIP-seq
MIRT1438933	hsa-miR-4701-5p	CLIP-seq
MIRT1438934	hsa-miR-4716-5p	CLIP-seq
MIRT1438935	hsa-miR-4755-3p	CLIP-seq
MIRT1438936	hsa-miR-4781-3p	CLIP-seq
MIRT1438937	hsa-miR-4789-5p	CLIP-seq
MIRT1438938	hsa-miR-548s	CLIP-seq
MIRT1438939	hsa-miR-587	CLIP-seq
MIRT1438940	hsa-miR-588	CLIP-seq
MIRT2131453	hsa-miR-122	CLIP-seq
MIRT2131454	hsa-miR-129-5p	CLIP-seq
MIRT2131455	hsa-miR-3064-5p	CLIP-seq
MIRT2131456	hsa-miR-3135b	CLIP-seq
MIRT2131457	hsa-miR-3652	CLIP-seq
MIRT2131458	hsa-miR-4430	CLIP-seq
MIRT2131459	hsa-miR-4505	CLIP-seq
MIRT2131460	hsa-miR-4793-5p	CLIP-seq
MIRT2352706	hsa-miR-106a	CLIP-seq
MIRT2352707	hsa-miR-106b	CLIP-seq
MIRT2352708	hsa-miR-17	CLIP-seq
MIRT2352709	hsa-miR-20a	CLIP-seq
MIRT2352710	hsa-miR-20b	CLIP-seq
MIRT1438921	hsa-miR-2116	CLIP-seq
MIRT2352711	hsa-miR-302a	CLIP-seq
MIRT2352712	hsa-miR-302b	CLIP-seq
MIRT2352713	hsa-miR-302c	CLIP-seq
MIRT2352714	hsa-miR-302d	CLIP-seq
MIRT2352715	hsa-miR-302e	CLIP-seq
MIRT1438924	hsa-miR-3187-3p	CLIP-seq
MIRT2352716	hsa-miR-3545-3p	CLIP-seq
MIRT2352717	hsa-miR-372	CLIP-seq
MIRT2352718	hsa-miR-373	CLIP-seq
MIRT2352719	hsa-miR-4297	CLIP-seq
MIRT1438927	hsa-miR-4435	CLIP-seq
MIRT2352720	hsa-miR-4635	CLIP-seq
MIRT1438930	hsa-miR-4677-5p	CLIP-seq
MIRT2352721	hsa-miR-4680-5p	CLIP-seq
MIRT1438931	hsa-miR-4687-3p	CLIP-seq
MIRT1438933	hsa-miR-4701-5p	CLIP-seq
MIRT2352722	hsa-miR-4731-5p	CLIP-seq
MIRT1438935	hsa-miR-4755-3p	CLIP-seq
MIRT1438936	hsa-miR-4781-3p	CLIP-seq
MIRT2352723	hsa-miR-498	CLIP-seq
MIRT2352724	hsa-miR-512-3p	CLIP-seq
MIRT2352725	hsa-miR-519d	CLIP-seq
MIRT2352726	hsa-miR-520a-3p	CLIP-seq
MIRT2352727	hsa-miR-520b	CLIP-seq
MIRT2352728	hsa-miR-520c-3p	CLIP-seq
MIRT2352729	hsa-miR-520d-3p	CLIP-seq
MIRT2352730	hsa-miR-520e	CLIP-seq
MIRT2352731	hsa-miR-520g	CLIP-seq
MIRT2352732	hsa-miR-520h	CLIP-seq
MIRT2352733	hsa-miR-526b	CLIP-seq
MIRT1438938	hsa-miR-548s	CLIP-seq
MIRT1438940	hsa-miR-588	CLIP-seq
MIRT2352734	hsa-miR-93	CLIP-seq
MIRT2352735	hsa-miR-149	CLIP-seq
MIRT2352736	hsa-miR-24	CLIP-seq
MIRT2352737	hsa-miR-3126-3p	CLIP-seq
MIRT2352738	hsa-miR-3127-5p	CLIP-seq
MIRT2352739	hsa-miR-4284	CLIP-seq
MIRT2352740	hsa-miR-4794	CLIP-seq
MIRT2352706	hsa-miR-106a	CLIP-seq
MIRT2352707	hsa-miR-106b	CLIP-seq
MIRT2352708	hsa-miR-17	CLIP-seq
MIRT2352709	hsa-miR-20a	CLIP-seq
MIRT2352710	hsa-miR-20b	CLIP-seq
MIRT2352711	hsa-miR-302a	CLIP-seq
MIRT2352712	hsa-miR-302b	CLIP-seq
MIRT2352713	hsa-miR-302c	CLIP-seq
MIRT2352714	hsa-miR-302d	CLIP-seq
MIRT2352715	hsa-miR-302e	CLIP-seq
MIRT2352717	hsa-miR-372	CLIP-seq
MIRT2352718	hsa-miR-373	CLIP-seq
MIRT2352719	hsa-miR-4297	CLIP-seq
MIRT2396051	hsa-miR-4312	CLIP-seq
MIRT2396052	hsa-miR-4438	CLIP-seq
MIRT2352722	hsa-miR-4731-5p	CLIP-seq
MIRT2396053	hsa-miR-5095	CLIP-seq
MIRT2352724	hsa-miR-512-3p	CLIP-seq
MIRT2352725	hsa-miR-519d	CLIP-seq
MIRT2352726	hsa-miR-520a-3p	CLIP-seq
MIRT2352727	hsa-miR-520b	CLIP-seq
MIRT2352728	hsa-miR-520c-3p	CLIP-seq
MIRT2352729	hsa-miR-520d-3p	CLIP-seq
MIRT2352730	hsa-miR-520e	CLIP-seq
MIRT2352731	hsa-miR-520g	CLIP-seq
MIRT2352732	hsa-miR-520h	CLIP-seq
MIRT2352734	hsa-miR-93	CLIP-seq
MIRT2646370	hsa-miR-1182	CLIP-seq
MIRT2131453	hsa-miR-122	CLIP-seq
MIRT2646371	hsa-miR-1255a	CLIP-seq
MIRT2646372	hsa-miR-1255b	CLIP-seq
MIRT2646373	hsa-miR-1322	CLIP-seq
MIRT2646374	hsa-miR-193a-5p	CLIP-seq
MIRT2131455	hsa-miR-3064-5p	CLIP-seq
MIRT2131456	hsa-miR-3135b	CLIP-seq
MIRT2646375	hsa-miR-3194-3p	CLIP-seq
MIRT2646376	hsa-miR-3605-5p	CLIP-seq
MIRT2131457	hsa-miR-3652	CLIP-seq
MIRT2646377	hsa-miR-369-3p	CLIP-seq
MIRT2646378	hsa-miR-374c	CLIP-seq
MIRT2646379	hsa-miR-3907	CLIP-seq
MIRT2646380	hsa-miR-3942-5p	CLIP-seq
MIRT2646381	hsa-miR-4263	CLIP-seq
MIRT2646382	hsa-miR-4282	CLIP-seq
MIRT2646383	hsa-miR-431	CLIP-seq
MIRT2131458	hsa-miR-4430	CLIP-seq
MIRT2131459	hsa-miR-4505	CLIP-seq
MIRT1438911	hsa-miR-4666-3p	CLIP-seq
MIRT2646384	hsa-miR-4703-5p	CLIP-seq
MIRT2131460	hsa-miR-4793-5p	CLIP-seq
MIRT2352723	hsa-miR-498	CLIP-seq
MIRT2646385	hsa-miR-513a-3p	CLIP-seq
MIRT2646386	hsa-miR-545	CLIP-seq
MIRT2646387	hsa-miR-576-5p	CLIP-seq
MIRT2646388	hsa-miR-583	CLIP-seq
MIRT2646389	hsa-miR-655	CLIP-seq
MIRT2646370	hsa-miR-1182	CLIP-seq
MIRT2131453	hsa-miR-122	CLIP-seq
MIRT2352735	hsa-miR-149	CLIP-seq
MIRT2646374	hsa-miR-193a-5p	CLIP-seq
MIRT2352736	hsa-miR-24	CLIP-seq
MIRT2131455	hsa-miR-3064-5p	CLIP-seq
MIRT2352737	hsa-miR-3126-3p	CLIP-seq
MIRT2131456	hsa-miR-3135b	CLIP-seq
MIRT2646375	hsa-miR-3194-3p	CLIP-seq
MIRT2131457	hsa-miR-3652	CLIP-seq
MIRT2646379	hsa-miR-3907	CLIP-seq
MIRT2352739	hsa-miR-4284	CLIP-seq
MIRT2646383	hsa-miR-431	CLIP-seq
MIRT2131458	hsa-miR-4430	CLIP-seq
MIRT2131459	hsa-miR-4505	CLIP-seq
MIRT2131460	hsa-miR-4793-5p	CLIP-seq
MIRT2352740	hsa-miR-4794	CLIP-seq
MIRT2352723	hsa-miR-498	CLIP-seq

Show/Hide all(28)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	17185389, 19815549, 26035863, 32814053, 34731008, 35137054
GO:0005737	Component	Cytoplasm	IEA
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	IDA	19815549
GO:0005789	Component	Endoplasmic reticulum membrane	IEA
GO:0005813	Component	Centrosome	IDA	17185389
GO:0005856	Component	Cytoskeleton	IEA
GO:0005886	Component	Plasma membrane	IEA
GO:0005929	Component	Cilium	IEA
GO:0010826	Process	Negative regulation of centrosome duplication	IMP	19515853
GO:0016020	Component	Membrane	IEA
GO:0030030	Process	Cell projection organization	IEA
GO:0030659	Component	Cytoplasmic vesicle membrane	IDA	19815549
GO:0031005	Function	Filamin binding	IPI	22121117
GO:0035567	Process	Non-canonical Wnt signaling pathway	IMP	34964473
GO:0035869	Component	Ciliary transition zone	IBA
GO:0035869	Component	Ciliary transition zone	IDA	26595381
GO:0036038	Component	MKS complex	IEA
GO:0036038	Component	MKS complex	ISS
GO:0036503	Process	ERAD pathway	IMP	19815549
GO:0042995	Component	Cell projection	IEA
GO:0051082	Function	Unfolded protein binding	IPI	19815549
GO:0060170	Component	Ciliary membrane	IDA	17185389
GO:0060170	Component	Ciliary membrane	TAS
GO:0060271	Process	Cilium assembly	IBA
GO:0060271	Process	Cilium assembly	IEA
GO:0060271	Process	Cilium assembly	IMP	19515853
GO:0060271	Process	Cilium assembly	ISS

MIM	HGNC	e!Ensembl
609884	28396	ENSG00000164953

Protein

UniProt ID

Q5HYA8

Protein name

Meckelin (Meckel syndrome type 3 protein) (Transmembrane protein 67)

Protein function

Required for ciliary structure and function. Part of the tectonic-like complex which is required for tissue-specific ciliogenesis and may regulate ciliary membrane composition (By similarity). Involved in centrosome migration to the apical cell

PDB

7FH1

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF09773	Meckelin	167 → 995	Meckelin (Transmembrane protein 67)	Family

Tissue specificity

TISSUE SPECIFICITY: Widely expressed in adult and fetal tissues. Expressed at higher level in spinal cord. {ECO:0000269|PubMed:16415887, ECO:0000269|PubMed:17185389}.

Sequence

MATRGGAGVAMAVWSLLSARAVTAFLLLFLPRFLQAQTFSFPFQQPEKCDNNQYFDISAL
SCVPCGANQRQDARGTSCVCLPGFQMISNNGGPAIICKKCPENMKGVTEDGWNCISCPSD
LTAEGKCHCPIGHILVERDINGTLLSQATCELCDGNENSFMVVNALGDRCVRCEPTFVNT
SRSCACSEPNILTGGLCFSSTGNFPLRRISAARYGEVGMSLTSEWFAKYLQSSAAACWVY
ANLTSCQALGNMCVMNMNSYDFATFDACGLFQFIFENTAGLSTVHSISFWRQNLPWLFYG
DQLGLAPQVLSSTSLPTNFSFKGENQNTKLKFVAASYDIRGNFLKWQTLEGGVLQLCPDT
ETRLNAAYSFGTTYQQNCEIPISKILIDFPTPIFYDVYLEYTDENQHQYILAVPVLNLNL
QHNKIFVNQDSNSGKWLLTRRIFLVDAVSGRENDLGTQPRVIRVATQISLSVHLVPNTIN
GNIYPPLITIAYSDIDIKDANSQSVKVSFSVTYEMDHGEAHVQTDIALGVLGGLAVLASL
LKTAGWKRRIGSPMIDLQTVVKFLVYYAGDLANVFFIITVGTGLYWLIFFKAQKSVSVLL
PMPIQEERFVTYVGCAFALKALQFLHKLISQITIDVFFIDWERPKGKVLKAVEGEGGVRS
ATVPVSIWRTYFVANEWNEIQTVRKINSLFQVLTVLFFLEVVGFKNLALMDSSSSLSRNP
PSYIAPYSCILRYAVSAALWLAIGIIQVVFFAVFYERFIEDKIRQFVDLCSMSNISVFLL
SHKCFGYYIHGRSVHGHADTNMEEMNMNLKREAENLCSQRGLVPNTDGQTFEIAISNQMR
QHYDRIHETLIRKNGPARLLSSSASTFEQSIKAYHMMNKFLGSFIDHVHKEMDYFIKDKL
LLERILGMEFMEPMEKSIFYNDEGYSFSSVLYYGNEATLLIFDLLFFCVVDLACQNFILA
SFLTYLQQEIFRYIRNTVGQKNLASKTLVDQRFLI

Sequence length

995

Interactions

View interactions

	Reactome
			Anchoring of the basal body to the plasma membrane

Show/Hide Causal Diseases (6)

Disease merge term	Disease name	dbSNP ID	References
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Joubert Syndrome	joubert syndrome 6, Joubert syndrome and related disorders, joubert syndrome 1	rs863225225, rs386834202, rs751309268, rs137853108, rs751517725, rs267607116, rs863225226, rs863225240, rs137853107, rs863225229, rs386834180, rs267607119, rs201893408, rs863225227, rs863225230 View all (24 more)	N/A
Joubert syndrome with congenital hepatic fibrosis	COACH syndrome 1	rs1554615516, rs267607119, rs137853107, rs786200867, rs758948621, rs786200868, rs267607115, rs775883520	N/A
Meckel syndrome	Meckel syndrome, type 3	rs386834188, rs137853106, rs386834180, rs386834190, rs386834187, rs386834191, rs765468645, rs386834203, rs386834194, rs747025617, rs386834205, rs386834181, rs386834195, rs267607119, rs386834182 View all (18 more)	N/A
Meckel-Gruber Syndrome	meckel-gruber syndrome	rs765468645, rs386834180, rs587779736	N/A
Nephronophthisis	nephronophthisis 11, nephronophthisis	rs267607116, rs201893408, rs267607117, rs138783896, rs202149403, rs775883520	N/A
RHYNS Syndrome	rhyns syndrome	rs137853108, rs967792092	N/A

Show/Hide Unknown Diseases (5)

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.
Bardet-Biedl Syndrome	Bardet-Biedl syndrome 14	N/A	N/A	ClinVar
Cerebellar vermis agenesis	familial aplasia of the vermis	N/A	N/A	ClinVar
Insomnia	Insomnia	N/A	N/A	GWAS
Mental retardation	intellectual disability	N/A	N/A	ClinVar
Microcephaly	microcephaly	N/A	N/A	ClinVar

Show/Hide Text Mining Associations (31)

Disease Name	Relationship Type	References
Associations from Text Mining Disease associations identified through Pubtator
Agenesis of Cerebellar Vermis	Associate	17160906, 17960139, 18950740, 19058225, 19540516, 19574260, 27491411, 29146704, 32000717, 33432080, 37131188, 37910852, 38502237
Anemia	Associate	19540516
Aphasia Conduction	Associate	37910852
Apraxia oculomotor Cogan type	Associate	19540516
Central Nervous System Vascular Malformations	Associate	19540516
Ciliopathies	Associate	19540516, 20232449, 21068128, 27491411, 35764379, 37471416
COACH syndrome	Associate	19058225, 19574260
Coloboma	Associate	19058225, 26092869
Encephalocele	Associate	12384791
Esophageal Neoplasms	Associate	33463006
Hepatic Fibrosis Congenital	Associate	19058225, 19574260
Hypertension	Associate	19540516
Hypertension Portal	Associate	29112083
Inflammation	Associate	36194576
Joubert syndrome 6	Associate	37910852
Kidney Diseases	Associate	19540516, 29146704
Liver Cirrhosis	Associate	26092869, 29891882
Liver Diseases	Associate	19574260
Liver Failure	Associate	19058225, 20232449, 27491411
Lung Neoplasms	Associate	36194576
Meckel syndrome type 1	Associate	12384791, 17160906, 19058225, 19540516, 19777577, 20232449, 21493627, 26191240, 32160518, 34356094
Meckel syndrome type 3	Associate	24039893, 26191240
Nephronophthisis 2	Associate	21866095
Nephronophthisis familial juvenile	Associate	19058225, 19540516, 21866095
Obesity	Associate	33921825
Polycystic Kidney Autosomal Recessive	Associate	19540516
Polycystic Kidney Diseases	Associate	34356094
Polydactyly	Associate	12384791
Pulmonary Disease Chronic Obstructive	Associate	36194576
Renal hepatic pancreatic dysplasia Dandy Walker cyst	Associate	19058225
RHYNS syndrome	Associate	29891882

TMEM67 (transmembrane protein 67)