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

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID	54982
Gene name	CLN6 transmembrane ER protein
Gene symbol	CLN6
Synonyms (NCBI Gene)	CLN4ACLN6AHsT18960nclf
Chromosome	15
Chromosome location	15q23
Summary	This gene is one of eight which have been associated with neuronal ceroid lipofuscinoses (NCL). Also referred to as Batten disease, NCL comprises a class of autosomal recessive, neurodegenerative disorders affecting children. The genes responsible likely

Show/Hide all (59)

SNP ID	Visualize variation	Clinical significance	Consequence
rs3743088	T>C	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, coding sequence variant
rs104894483	C>A,G,T	Benign, benign-likely-benign, pathogenic, likely-benign	Missense variant, coding sequence variant, stop gained
rs104894484	C>T	Pathogenic	Missense variant, coding sequence variant
rs104894486	G>A,C	Pathogenic	Coding sequence variant, synonymous variant, stop gained
rs121908079	ATA>-	Pathogenic	Coding sequence variant, inframe deletion
rs121908080	ATG>-	Likely-pathogenic, pathogenic	Coding sequence variant, inframe deletion
rs140319056	G>A	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs143578698	C>G	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs143781303	T>C	Pathogenic	Missense variant, coding sequence variant
rs145247814	G>A	Benign, conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, synonymous variant
rs149692285	G>A,T	Benign, pathogenic, likely-benign, benign-likely-benign	Intron variant
rs154774633	A>G	Not-provided, pathogenic	Missense variant, coding sequence variant
rs154774634	C>T	Not-provided, uncertain-significance, pathogenic	Missense variant, coding sequence variant
rs154774635	G>A	Not-provided, uncertain-significance, pathogenic	Missense variant, coding sequence variant
rs154774636	C>G	Not-provided, pathogenic	Missense variant, coding sequence variant
rs154774639	G>-	Not-provided, likely-pathogenic	Frameshift variant, coding sequence variant
rs154774640	G>C	Likely-pathogenic, pathogenic	Stop gained, coding sequence variant
rs201095412	G>A	Uncertain-significance, pathogenic	Coding sequence variant, missense variant
rs371705916	G>A	Conflicting-interpretations-of-pathogenicity	Intron variant
rs374681194	C>A,T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, missense variant
rs397515352	->G	Pathogenic	Coding sequence variant, frameshift variant
rs547125345	G>A	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, missense variant
rs553192210	C>A,G	Likely-pathogenic	Intron variant
rs746753722	C>T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, missense variant
rs750937323	A>G	Uncertain-significance, likely-pathogenic	Coding sequence variant, missense variant
rs751486476	C>T	Pathogenic	Coding sequence variant, missense variant
rs756522171	C>T	Likely-pathogenic	Splice donor variant
rs758921701	G>A	Likely-pathogenic	Missense variant, coding sequence variant
rs762902907	->A	Likely-pathogenic	Stop gained, coding sequence variant
rs763944821	C>T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs768422260	GAG>-	Pathogenic, uncertain-significance	Inframe deletion, coding sequence variant
rs769701646	C>T	Likely-pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs774543080	AG>-	Pathogenic	Frameshift variant, coding sequence variant
rs786205065	C>-	Pathogenic	Frameshift variant, coding sequence variant
rs786205066	C>A	Pathogenic	Intron variant
rs786205067	->CGTT	Pathogenic	Frameshift variant, coding sequence variant
rs794729220	GCGACCCAG>-	Pathogenic	Coding sequence variant, inframe deletion
rs796052351	C>T	Pathogenic	Splice donor variant
rs796052355	A>G	Pathogenic	Splice donor variant
rs796052356	C>T	Pathogenic	Splice donor variant
rs886039727	C>T	Pathogenic	Splice donor variant
rs919850756	G>A	Likely-pathogenic	Coding sequence variant, missense variant
rs1048000119	C>A,T	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs1057520571	C>T	Likely-pathogenic	Stop gained, coding sequence variant
rs1064796787	C>T	Likely-pathogenic	Splice acceptor variant
rs1381427322	C>T	Pathogenic	Missense variant, coding sequence variant
rs1555438212	C>T	Likely-pathogenic	Stop gained, coding sequence variant
rs1555438229	->AG	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1555438234	TGTCC>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1555438255	A>G	Likely-pathogenic	Missense variant, coding sequence variant
rs1555438411	C>T	Likely-pathogenic	Stop gained, coding sequence variant
rs1555438443	C>T	Likely-pathogenic	Stop gained, coding sequence variant
rs1555438614	C>A	Likely-pathogenic	Splice donor variant
rs1555440188	A>C	Likely-pathogenic	Splice donor variant
rs1555440206	T>C	Likely-pathogenic	Missense variant, initiator codon variant
rs1567095153	->G	Pathogenic	Coding sequence variant, frameshift variant
rs1567096598	A>T	Pathogenic	Coding sequence variant, missense variant
rs1595816465	C>-	Pathogenic	Coding sequence variant, frameshift variant
rs1595816474	GACC>-	Likely-pathogenic	Coding sequence variant, frameshift variant

313

Show/Hide all (313)

miRTarBase ID	miRNA	Experiments	Reference
MIRT024862	hsa-miR-215-5p	Microarray	19074876
MIRT026355	hsa-miR-192-5p	Microarray	19074876
MIRT044786	hsa-miR-320a	CLASH	23622248
MIRT043180	hsa-miR-324-5p	CLASH	23622248
MIRT040288	hsa-miR-615-3p	CLASH	23622248
MIRT612141	hsa-miR-8485	HITS-CLIP	23824327
MIRT612141	hsa-miR-8485	HITS-CLIP	23824327
MIRT612140	hsa-miR-300	HITS-CLIP	23824327
MIRT612139	hsa-miR-381-3p	HITS-CLIP	23824327
MIRT612138	hsa-miR-5092	HITS-CLIP	23824327
MIRT612141	hsa-miR-8485	HITS-CLIP	23824327
MIRT612138	hsa-miR-5092	HITS-CLIP	23824327
MIRT612141	hsa-miR-8485	HITS-CLIP	23824327
MIRT612138	hsa-miR-5092	HITS-CLIP	23824327
MIRT612141	hsa-miR-8485	HITS-CLIP	23824327
MIRT612138	hsa-miR-5092	HITS-CLIP	23824327
MIRT612141	hsa-miR-8485	HITS-CLIP	23824327
MIRT612140	hsa-miR-300	HITS-CLIP	23824327
MIRT612139	hsa-miR-381-3p	HITS-CLIP	23824327
MIRT612138	hsa-miR-5092	HITS-CLIP	23824327
MIRT612141	hsa-miR-8485	HITS-CLIP	23824327
MIRT612138	hsa-miR-5092	HITS-CLIP	23824327
MIRT612141	hsa-miR-8485	HITS-CLIP	23824327
MIRT612138	hsa-miR-5092	HITS-CLIP	23824327
MIRT612141	hsa-miR-8485	HITS-CLIP	23824327
MIRT612138	hsa-miR-5092	HITS-CLIP	23824327
MIRT612141	hsa-miR-8485	HITS-CLIP	23824327
MIRT612138	hsa-miR-5092	HITS-CLIP	23824327
MIRT612141	hsa-miR-8485	HITS-CLIP	23824327
MIRT612138	hsa-miR-5092	HITS-CLIP	23824327
MIRT612141	hsa-miR-8485	HITS-CLIP	23824327
MIRT612140	hsa-miR-300	HITS-CLIP	23824327
MIRT612139	hsa-miR-381-3p	HITS-CLIP	23824327
MIRT612138	hsa-miR-5092	HITS-CLIP	23824327
MIRT612141	hsa-miR-8485	HITS-CLIP	23824327
MIRT612141	hsa-miR-8485	HITS-CLIP	23824327
MIRT612140	hsa-miR-300	HITS-CLIP	23824327
MIRT612139	hsa-miR-381-3p	HITS-CLIP	23824327
MIRT612138	hsa-miR-5092	HITS-CLIP	23824327
MIRT612141	hsa-miR-8485	HITS-CLIP	23824327
MIRT612138	hsa-miR-5092	HITS-CLIP	23824327
MIRT612141	hsa-miR-8485	HITS-CLIP	23824327
MIRT612138	hsa-miR-5092	HITS-CLIP	23824327
MIRT612141	hsa-miR-8485	HITS-CLIP	23824327
MIRT612138	hsa-miR-5092	HITS-CLIP	23824327
MIRT612141	hsa-miR-8485	HITS-CLIP	23824327
MIRT612140	hsa-miR-300	HITS-CLIP	23824327
MIRT612139	hsa-miR-381-3p	HITS-CLIP	23824327
MIRT612138	hsa-miR-5092	HITS-CLIP	23824327
MIRT612141	hsa-miR-8485	HITS-CLIP	23824327
MIRT612138	hsa-miR-5092	HITS-CLIP	23824327
MIRT612141	hsa-miR-8485	HITS-CLIP	23824327
MIRT612138	hsa-miR-5092	HITS-CLIP	23824327
MIRT612141	hsa-miR-8485	HITS-CLIP	23824327
MIRT612138	hsa-miR-5092	HITS-CLIP	23824327
MIRT612141	hsa-miR-8485	HITS-CLIP	23824327
MIRT612138	hsa-miR-5092	HITS-CLIP	23824327
MIRT612141	hsa-miR-8485	HITS-CLIP	23824327
MIRT612138	hsa-miR-5092	HITS-CLIP	23824327
MIRT612141	hsa-miR-8485	HITS-CLIP	23824327
MIRT612140	hsa-miR-300	HITS-CLIP	23824327
MIRT612139	hsa-miR-381-3p	HITS-CLIP	23824327
MIRT612138	hsa-miR-5092	HITS-CLIP	23824327
MIRT897058	hsa-miR-103b	CLIP-seq
MIRT897059	hsa-miR-1200	CLIP-seq
MIRT897060	hsa-miR-1207-5p	CLIP-seq
MIRT897061	hsa-miR-122	CLIP-seq
MIRT897062	hsa-miR-125a-5p	CLIP-seq
MIRT897063	hsa-miR-125b	CLIP-seq
MIRT897064	hsa-miR-1273f	CLIP-seq
MIRT897065	hsa-miR-1285	CLIP-seq
MIRT897066	hsa-miR-1298	CLIP-seq
MIRT897067	hsa-miR-1302	CLIP-seq
MIRT897068	hsa-miR-130a	CLIP-seq
MIRT897069	hsa-miR-130b	CLIP-seq
MIRT897070	hsa-miR-1322	CLIP-seq
MIRT897071	hsa-miR-134	CLIP-seq
MIRT897072	hsa-miR-140-3p	CLIP-seq
MIRT897073	hsa-miR-143	CLIP-seq
MIRT897074	hsa-miR-1471	CLIP-seq
MIRT897075	hsa-miR-1914	CLIP-seq
MIRT897076	hsa-miR-192	CLIP-seq
MIRT897077	hsa-miR-19a	CLIP-seq
MIRT897078	hsa-miR-19b	CLIP-seq
MIRT897079	hsa-miR-215	CLIP-seq
MIRT897080	hsa-miR-301a	CLIP-seq
MIRT897081	hsa-miR-301b	CLIP-seq
MIRT897082	hsa-miR-3118	CLIP-seq
MIRT897083	hsa-miR-3122	CLIP-seq
MIRT897084	hsa-miR-3137	CLIP-seq
MIRT897085	hsa-miR-3164	CLIP-seq
MIRT897086	hsa-miR-3187-5p	CLIP-seq
MIRT897087	hsa-miR-326	CLIP-seq
MIRT897088	hsa-miR-329	CLIP-seq
MIRT897089	hsa-miR-330-5p	CLIP-seq
MIRT897090	hsa-miR-345	CLIP-seq
MIRT897091	hsa-miR-361-3p	CLIP-seq
MIRT897092	hsa-miR-3615	CLIP-seq
MIRT897093	hsa-miR-362-3p	CLIP-seq
MIRT897094	hsa-miR-3649	CLIP-seq
MIRT897095	hsa-miR-3651	CLIP-seq
MIRT897096	hsa-miR-3652	CLIP-seq
MIRT897097	hsa-miR-3664-5p	CLIP-seq
MIRT897098	hsa-miR-3666	CLIP-seq
MIRT897099	hsa-miR-3682-5p	CLIP-seq
MIRT897100	hsa-miR-380	CLIP-seq
MIRT897101	hsa-miR-381	CLIP-seq
MIRT897102	hsa-miR-3913-5p	CLIP-seq
MIRT897103	hsa-miR-3929	CLIP-seq
MIRT897104	hsa-miR-3941	CLIP-seq
MIRT897105	hsa-miR-3943	CLIP-seq
MIRT897106	hsa-miR-409-5p	CLIP-seq
MIRT897107	hsa-miR-411	CLIP-seq
MIRT897108	hsa-miR-421	CLIP-seq
MIRT897109	hsa-miR-4286	CLIP-seq
MIRT897110	hsa-miR-4292	CLIP-seq
MIRT897111	hsa-miR-4295	CLIP-seq
MIRT897112	hsa-miR-4298	CLIP-seq
MIRT897113	hsa-miR-4308	CLIP-seq
MIRT897114	hsa-miR-4319	CLIP-seq
MIRT897115	hsa-miR-4323	CLIP-seq
MIRT897116	hsa-miR-4324	CLIP-seq
MIRT897117	hsa-miR-4419b	CLIP-seq
MIRT897118	hsa-miR-4428	CLIP-seq
MIRT897119	hsa-miR-4430	CLIP-seq
MIRT897120	hsa-miR-4478	CLIP-seq
MIRT897121	hsa-miR-4488	CLIP-seq
MIRT897122	hsa-miR-4495	CLIP-seq
MIRT897123	hsa-miR-4505	CLIP-seq
MIRT897124	hsa-miR-4514	CLIP-seq
MIRT897125	hsa-miR-4522	CLIP-seq
MIRT897126	hsa-miR-454	CLIP-seq
MIRT897127	hsa-miR-4635	CLIP-seq
MIRT897128	hsa-miR-4645-5p	CLIP-seq
MIRT897129	hsa-miR-4656	CLIP-seq
MIRT897130	hsa-miR-466	CLIP-seq
MIRT897131	hsa-miR-4666-3p	CLIP-seq
MIRT897132	hsa-miR-4671-3p	CLIP-seq
MIRT897133	hsa-miR-4672	CLIP-seq
MIRT897134	hsa-miR-4673	CLIP-seq
MIRT897135	hsa-miR-4691-3p	CLIP-seq
MIRT897136	hsa-miR-4692	CLIP-seq
MIRT897137	hsa-miR-4697-5p	CLIP-seq
MIRT897138	hsa-miR-4699-3p	CLIP-seq
MIRT897139	hsa-miR-4708-5p	CLIP-seq
MIRT897140	hsa-miR-4709-5p	CLIP-seq
MIRT897141	hsa-miR-4731-5p	CLIP-seq
MIRT897142	hsa-miR-4732-3p	CLIP-seq
MIRT897143	hsa-miR-4763-3p	CLIP-seq
MIRT897144	hsa-miR-4770	CLIP-seq
MIRT897145	hsa-miR-4789-3p	CLIP-seq
MIRT897146	hsa-miR-516b	CLIP-seq
MIRT897147	hsa-miR-526b	CLIP-seq
MIRT897148	hsa-miR-539	CLIP-seq
MIRT897149	hsa-miR-544b	CLIP-seq
MIRT897150	hsa-miR-593	CLIP-seq
MIRT897151	hsa-miR-603	CLIP-seq
MIRT897152	hsa-miR-612	CLIP-seq
MIRT897153	hsa-miR-617	CLIP-seq
MIRT897154	hsa-miR-637	CLIP-seq
MIRT897155	hsa-miR-640	CLIP-seq
MIRT897156	hsa-miR-642b	CLIP-seq
MIRT897157	hsa-miR-670	CLIP-seq
MIRT897158	hsa-miR-940	CLIP-seq
MIRT897060	hsa-miR-1207-5p	CLIP-seq
MIRT897061	hsa-miR-122	CLIP-seq
MIRT1965997	hsa-miR-1225-5p	CLIP-seq
MIRT1965998	hsa-miR-1237	CLIP-seq
MIRT897062	hsa-miR-125a-5p	CLIP-seq
MIRT897063	hsa-miR-125b	CLIP-seq
MIRT897065	hsa-miR-1285	CLIP-seq
MIRT1965999	hsa-miR-1299	CLIP-seq
MIRT897071	hsa-miR-134	CLIP-seq
MIRT1966000	hsa-miR-1909	CLIP-seq
MIRT897075	hsa-miR-1914	CLIP-seq
MIRT1966001	hsa-miR-204	CLIP-seq
MIRT1966002	hsa-miR-211	CLIP-seq
MIRT1966003	hsa-miR-296-5p	CLIP-seq
MIRT1966004	hsa-miR-3065-3p	CLIP-seq
MIRT897082	hsa-miR-3118	CLIP-seq
MIRT1966005	hsa-miR-3125	CLIP-seq
MIRT1966006	hsa-miR-3132	CLIP-seq
MIRT897084	hsa-miR-3137	CLIP-seq
MIRT897085	hsa-miR-3164	CLIP-seq
MIRT1966007	hsa-miR-3182	CLIP-seq
MIRT897086	hsa-miR-3187-5p	CLIP-seq
MIRT897087	hsa-miR-326	CLIP-seq
MIRT897089	hsa-miR-330-5p	CLIP-seq
MIRT897090	hsa-miR-345	CLIP-seq
MIRT1966008	hsa-miR-34a	CLIP-seq
MIRT1966009	hsa-miR-34c-5p	CLIP-seq
MIRT1966010	hsa-miR-3616-3p	CLIP-seq
MIRT897097	hsa-miR-3664-5p	CLIP-seq
MIRT1966011	hsa-miR-378g	CLIP-seq
MIRT897100	hsa-miR-380	CLIP-seq
MIRT1966012	hsa-miR-3916	CLIP-seq
MIRT897103	hsa-miR-3929	CLIP-seq
MIRT1966013	hsa-miR-4277	CLIP-seq
MIRT897109	hsa-miR-4286	CLIP-seq
MIRT897110	hsa-miR-4292	CLIP-seq
MIRT1966014	hsa-miR-4300	CLIP-seq
MIRT897113	hsa-miR-4308	CLIP-seq
MIRT897114	hsa-miR-4319	CLIP-seq
MIRT897117	hsa-miR-4419b	CLIP-seq
MIRT1966015	hsa-miR-4436b-3p	CLIP-seq
MIRT1966016	hsa-miR-4451	CLIP-seq
MIRT897120	hsa-miR-4478	CLIP-seq
MIRT1966017	hsa-miR-4481	CLIP-seq
MIRT1966018	hsa-miR-4484	CLIP-seq
MIRT1966019	hsa-miR-4486	CLIP-seq
MIRT897121	hsa-miR-4488	CLIP-seq
MIRT897122	hsa-miR-4495	CLIP-seq
MIRT1966020	hsa-miR-449a	CLIP-seq
MIRT1966021	hsa-miR-449b	CLIP-seq
MIRT897125	hsa-miR-4522	CLIP-seq
MIRT1966022	hsa-miR-4640-5p	CLIP-seq
MIRT1966023	hsa-miR-4659a-3p	CLIP-seq
MIRT1966024	hsa-miR-4659b-3p	CLIP-seq
MIRT897137	hsa-miR-4697-5p	CLIP-seq
MIRT1966025	hsa-miR-4700-3p	CLIP-seq
MIRT1966026	hsa-miR-4716-3p	CLIP-seq
MIRT1966027	hsa-miR-4726-5p	CLIP-seq
MIRT897142	hsa-miR-4732-3p	CLIP-seq
MIRT1966028	hsa-miR-4745-5p	CLIP-seq
MIRT1966029	hsa-miR-4755-5p	CLIP-seq
MIRT897143	hsa-miR-4763-3p	CLIP-seq
MIRT1966030	hsa-miR-4782-5p	CLIP-seq
MIRT897146	hsa-miR-516b	CLIP-seq
MIRT1966031	hsa-miR-542-3p	CLIP-seq
MIRT1966032	hsa-miR-548an	CLIP-seq
MIRT897152	hsa-miR-612	CLIP-seq
MIRT897153	hsa-miR-617	CLIP-seq
MIRT1966033	hsa-miR-623	CLIP-seq
MIRT897154	hsa-miR-637	CLIP-seq
MIRT897156	hsa-miR-642b	CLIP-seq
MIRT1966034	hsa-miR-661	CLIP-seq
MIRT897157	hsa-miR-670	CLIP-seq
MIRT1966035	hsa-miR-877	CLIP-seq
MIRT1966036	hsa-miR-920	CLIP-seq
MIRT2201884	hsa-miR-1178	CLIP-seq
MIRT897060	hsa-miR-1207-5p	CLIP-seq
MIRT897061	hsa-miR-122	CLIP-seq
MIRT2201885	hsa-miR-127-3p	CLIP-seq
MIRT897065	hsa-miR-1285	CLIP-seq
MIRT897070	hsa-miR-1322	CLIP-seq
MIRT897071	hsa-miR-134	CLIP-seq
MIRT2201886	hsa-miR-1538	CLIP-seq
MIRT1966000	hsa-miR-1909	CLIP-seq
MIRT897075	hsa-miR-1914	CLIP-seq
MIRT2201887	hsa-miR-2861	CLIP-seq
MIRT897082	hsa-miR-3118	CLIP-seq
MIRT2201888	hsa-miR-3136-3p	CLIP-seq
MIRT897085	hsa-miR-3164	CLIP-seq
MIRT1966007	hsa-miR-3182	CLIP-seq
MIRT897086	hsa-miR-3187-5p	CLIP-seq
MIRT1966010	hsa-miR-3616-3p	CLIP-seq
MIRT2201889	hsa-miR-3662	CLIP-seq
MIRT897101	hsa-miR-381	CLIP-seq
MIRT897103	hsa-miR-3929	CLIP-seq
MIRT897108	hsa-miR-421	CLIP-seq
MIRT897110	hsa-miR-4292	CLIP-seq
MIRT897113	hsa-miR-4308	CLIP-seq
MIRT897117	hsa-miR-4419b	CLIP-seq
MIRT897118	hsa-miR-4428	CLIP-seq
MIRT1966015	hsa-miR-4436b-3p	CLIP-seq
MIRT897120	hsa-miR-4478	CLIP-seq
MIRT897121	hsa-miR-4488	CLIP-seq
MIRT897131	hsa-miR-4666-3p	CLIP-seq
MIRT897135	hsa-miR-4691-3p	CLIP-seq
MIRT897137	hsa-miR-4697-5p	CLIP-seq
MIRT897140	hsa-miR-4709-5p	CLIP-seq
MIRT2201890	hsa-miR-4745-3p	CLIP-seq
MIRT897143	hsa-miR-4763-3p	CLIP-seq
MIRT2201891	hsa-miR-4777-3p	CLIP-seq
MIRT2201892	hsa-miR-4779	CLIP-seq
MIRT897145	hsa-miR-4789-3p	CLIP-seq
MIRT897146	hsa-miR-516b	CLIP-seq
MIRT897148	hsa-miR-539	CLIP-seq
MIRT897152	hsa-miR-612	CLIP-seq
MIRT897153	hsa-miR-617	CLIP-seq
MIRT897154	hsa-miR-637	CLIP-seq
MIRT897156	hsa-miR-642b	CLIP-seq
MIRT1966034	hsa-miR-661	CLIP-seq
MIRT2201893	hsa-miR-875-5p	CLIP-seq
MIRT2386205	hsa-miR-541	CLIP-seq
MIRT897156	hsa-miR-642b	CLIP-seq
MIRT2386206	hsa-miR-654-5p	CLIP-seq
MIRT2447201	hsa-miR-3936	CLIP-seq
MIRT2447202	hsa-miR-4714-3p	CLIP-seq
MIRT2447203	hsa-miR-545	CLIP-seq
MIRT2447201	hsa-miR-3936	CLIP-seq
MIRT2447202	hsa-miR-4714-3p	CLIP-seq
MIRT2447203	hsa-miR-545	CLIP-seq
MIRT897065	hsa-miR-1285	CLIP-seq
MIRT897071	hsa-miR-134	CLIP-seq
MIRT2504965	hsa-miR-1913	CLIP-seq
MIRT897075	hsa-miR-1914	CLIP-seq
MIRT897082	hsa-miR-3118	CLIP-seq
MIRT897085	hsa-miR-3164	CLIP-seq
MIRT2504966	hsa-miR-3176	CLIP-seq
MIRT897086	hsa-miR-3187-5p	CLIP-seq
MIRT2504967	hsa-miR-324-3p	CLIP-seq
MIRT897088	hsa-miR-329	CLIP-seq
MIRT897093	hsa-miR-362-3p	CLIP-seq
MIRT2504968	hsa-miR-3922-3p	CLIP-seq
MIRT897110	hsa-miR-4292	CLIP-seq
MIRT897113	hsa-miR-4308	CLIP-seq
MIRT2504969	hsa-miR-4667-3p	CLIP-seq
MIRT2504970	hsa-miR-4733-3p	CLIP-seq
MIRT2504971	hsa-miR-4757-5p	CLIP-seq
MIRT897152	hsa-miR-612	CLIP-seq
MIRT897153	hsa-miR-617	CLIP-seq
MIRT897156	hsa-miR-642b	CLIP-seq

Show/Hide all (27)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001573	Process	Ganglioside metabolic process	IMP	16857350
GO:0005515	Function	Protein binding	IPI	17237713, 19235893, 19941651, 30177828, 32296183, 32814053
GO:0005730	Component	Nucleolus	IDA
GO:0005769	Component	Early endosome	IDA	17237713
GO:0005783	Component	Endoplasmic reticulum	IBA
GO:0005783	Component	Endoplasmic reticulum	IDA	15265688, 19941651
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0005788	Component	Endoplasmic reticulum lumen	IDA	15010453
GO:0005789	Component	Endoplasmic reticulum membrane	IEA
GO:0007040	Process	Lysosome organization	IBA
GO:0007040	Process	Lysosome organization	IEA
GO:0007042	Process	Lysosomal lumen acidification	IMP	11722572
GO:0007601	Process	Visual perception	IEA
GO:0008203	Process	Cholesterol metabolic process	IMP	16857350
GO:0009057	Process	Macromolecule catabolic process	IEA
GO:0016020	Component	Membrane	HDA	19946888
GO:0016020	Component	Membrane	IBA
GO:0016020	Component	Membrane	IEA
GO:0016020	Component	Membrane	NAS	11727201
GO:0030163	Process	Protein catabolic process	NAS	10740217
GO:0030203	Process	Glycosaminoglycan metabolic process	IMP	16857350
GO:0031987	Process	Locomotion involved in locomotory behavior	IEA
GO:0035727	Function	Lysophosphatidic acid binding	IDA	18317235
GO:0042803	Function	Protein homodimerization activity	IDA	15010453
GO:0045121	Component	Membrane raft	IDA	17237713
GO:0045862	Process	Positive regulation of proteolysis	IMP	15010453
GO:0120146	Function	Sulfatide binding	IDA	18317235

MIM	HGNC	e!Ensembl
606725	2077	ENSG00000128973

Q9NWW5

Protein name

Ceroid-lipofuscinosis neuronal protein 6 (Protein CLN6)

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF15156	CLN6	30 → 309	Ceroid-lipofuscinosis neuronal protein 6	Family

Sequence

MEATRRRQHLGATGGPGAQLGASFLQARHGSVSADEAARTAPFHLDLWFYFTLQNWVLDF
GRPIAMLVFPLEWFPLNKPSVGDYFHMAYNVITPFLLLKLIERSPRTLPRSITYVSIIIF
IMGASIHLVGDSVNHRLLFSGYQHHLSVRENPIIKNLKPETLIDSFELLYYYDEYLGHCM
WYIPFFLILFMYFSGCFTASKAESLIPGPALLLVAPSGLYYWYLVTEGQIFILFIFTFFA
MLALVLHQKRKRLFLDSNGLFLFSSFALTLLLVALWVAWLWNDPVLRKKYPGVIYVPEPW
AFYTLHVSSRH

Sequence length

311

Interactions

View interactions

883

Show/Hide Causal Diseases (11)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Abnormality of the nervous system	Pathogenic; Likely pathogenic	rs2141139300, rs2141141525, rs2141156157	RCV001814358 RCV001814411 RCV001814357
Adult neuronal ceroid lipofuscinosis	Likely pathogenic	rs2093204342, rs2093205953, rs2093214695	RCV001264033 RCV001264034 RCV001264035
Ceroid lipofuscinosis, neuronal, 6A	Likely pathogenic; Pathogenic	rs2093262869, rs796052356, rs2141138753, rs760271120, rs2141136108, rs2141139300, rs2141135900, rs2141141533, rs758921701, rs1401381423, rs2505409451, rs2505409424, rs2505409701, rs1275614219, rs104894483 View all (32 more)	RCV005005165 RCV005005179 RCV001374417 RCV005005235 RCV005005918 RCV005005952 RCV001814583 RCV001543158 RCV001572615 RCV005006300 RCV002309713 RCV002307894 RCV002307038 RCV002465019 RCV000004292 RCV000004293 RCV000004295 RCV000004296 RCV000004297 RCV000004298 RCV000004299 RCV000004301 RCV005002887 RCV003334470 RCV003388913 RCV003990192 RCV003990705 RCV005003402 RCV005004187 RCV000673735 RCV000670264 RCV000673900 RCV000671252 RCV000666571 RCV000672905 RCV000672314 RCV000672641 RCV000665609 RCV000666578 RCV000669509 RCV000665887 RCV000678440 RCV000761549 RCV000668229 RCV000669748 RCV001264033 RCV001264034 RCV001264035
Ceroid lipofuscinosis, neuronal, 6B (Kufs type)	Likely pathogenic; Pathogenic	rs2093262869, rs796052356, rs760271120, rs2141136108, rs2141139300, rs752212030, rs1401381423, rs2505409451, rs2505409424, rs2505409701, rs104894483, rs397515352, rs774543080, rs121908080, rs2505401392 View all (9 more)	RCV005005165 RCV005005179 RCV005005235 RCV005005918 RCV005005952 RCV001787284 RCV005006300 RCV002309713 RCV002307894 RCV002307038 RCV005003333 RCV005007823 RCV005007824 RCV002490306 RCV005002887 RCV003334470 RCV001787030 RCV005003402 RCV001787033 RCV005004187 RCV005010669 RCV002499177 RCV005010652 RCV002485526
CLN6-related disorder	Likely pathogenic	rs756522171	RCV004754526
Cystic fibrosis	Pathogenic	rs758921701	RCV004568496
Gastric cancer	Likely pathogenic	rs756522171	RCV005901491
Neurodevelopmental disorder	Likely pathogenic	rs2141135967, rs2141136011	RCV001374905 RCV001374904
Neuronal ceroid lipofuscinosis	Likely pathogenic; Pathogenic	rs2093262869, rs2141137336, rs756522171, rs760271120, rs2141136108, rs2093199030, rs2141145023, rs2141145116, rs2141139300, rs2141141420, rs766493088, rs1595818391, rs1401381423, rs2141137200, rs2141145071 View all (47 more)	RCV001316419 RCV001377170 RCV001377046 RCV001385144 RCV001385145 RCV001380128 RCV001389553 RCV001383632 RCV005057493 RCV001946772 RCV001937197 RCV001976008 RCV002004639 RCV002035287 RCV001932695 RCV001067723 RCV002512747 RCV000465745 RCV000989354 RCV001201445 RCV002643509 RCV001037728 RCV001379342 RCV002513990 RCV002800775 RCV002863628 RCV002872720 RCV002958265 RCV002999989 RCV003026180 RCV003022019 RCV003057940 RCV003533894 RCV003531570 RCV003531590 RCV003532516 RCV003647997 RCV003648264 RCV003648265 RCV003648342 RCV003648401 RCV003648513 RCV004526511 RCV003648624 RCV003649072 RCV003649018 RCV001378313 RCV002525960 RCV001203261 RCV000689116 RCV001861826 RCV001868252 RCV002532122 RCV002530689 RCV001855448 RCV003479215 RCV000702360 RCV002514294 RCV000989351 RCV000989352 RCV001042074 RCV001043252 RCV001241844
See cases	Pathogenic; Likely pathogenic	rs774543080, rs121908080	RCV003156056 RCV002251873
Spastic ataxia	Likely pathogenic	rs796052356	RCV001647223

Show/Hide Unknown Diseases (11)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
-	no classification for the single variant	rs794729220	-
Abnormal brain morphology	Conflicting classifications of pathogenicity	rs769701646	RCV000454168
Agenesis of the corpus callosum with peripheral neuropathy	Benign; Likely benign	rs149692285	RCV001258279
Cervical cancer	Benign	rs59385667	RCV005905405
Cholangiocarcinoma	Benign	rs59385667	RCV005905407
Germ cell tumor of testis	Benign; Likely benign	rs104894483	RCV005889921
Lung cancer	Benign	rs59385667	RCV005905408
Neuronal Ceroid-Lipofuscinosis, Recessive	Conflicting classifications of pathogenicity; Benign; Likely benign; Uncertain significance	rs3837692, rs886051447, rs754855292, rs886051445, rs8028241, rs55672378	RCV000338546 RCV000279536 RCV000361420 RCV000311359 RCV000350982 RCV000390333 RCV000368410 RCV000328369 RCV000366728
Thymoma	Benign	rs59385667	RCV005905406
Thyroid cancer, nonmedullary, 1	Benign; Likely benign	rs104894483	RCV005889920
Uterine corpus endometrial carcinoma	Benign	rs59385667	RCV005905409

Show/Hide Text Mining Associations (26)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Ataxia	Associate	26115733
Basal Ganglia Diseases	Associate	26115733
Bipolar Disorder	Associate	35881528
Cerebellar Diseases	Associate	38003592
Cerebellar Hypoplasia	Associate	38003592
Ceroid lipofuscinosis neuronal 5	Associate	16857350
Ceroid Lipofuscinosis Neuronal 6	Associate	34380921
Cognition Disorders	Associate	26115733
Compassion Fatigue	Associate	30285654
Dementia	Associate	26115733
Disease	Associate	34380921
Epilepsies Myoclonic	Associate	26115733
Epilepsy	Associate	30285654
Heredodegenerative Disorders Nervous System	Associate	34380921
Learning Disabilities	Associate	26115733
Li Fraumeni Syndrome	Associate	31982899
Malformations of Cortical Development	Associate	26115733
Myoclonic Epilepsies Progressive	Associate	33798445
Myoclonus	Associate	26115733
Neoplastic Syndromes Hereditary	Associate	30285654
Neuroaxonal Dystrophies	Associate	31982899
Neurodegenerative Diseases	Associate	16857350
Neurologic Manifestations	Associate	35881528
Neuronal Ceroid Lipofuscinoses	Associate	18811591, 21549341, 26115733, 30285654, 31982899, 32412666, 34380921, 35881528
Seizures	Associate	26115733
Vision Disorders	Associate	26115733

CLN6 (CLN6 transmembrane ER protein)