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

Gene Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	57003
Gene name Gene Name - the full gene name approved by the HGNC.	Coiled-coil domain containing 47
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	CCDC47
Synonyms (NCBI Gene) Gene synonyms aliases	GK001, MSTP041, THNS
Disease Acronyms (UniProt) Disease acronyms from UniProt database	THNS
Chromosome Chromosome number	17
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	17q23.3

Show/Hide all(4)

SNP ID	Visualize variation	Clinical significance	Consequence
rs749027804	G>A	Pathogenic, likely-pathogenic	Coding sequence variant, stop gained
rs750123815	A>-	Pathogenic, likely-pathogenic	Coding sequence variant, frameshift variant
rs1269750663	G>A	Pathogenic, likely-pathogenic	Coding sequence variant, stop gained
rs1568246398	A>-	Likely-pathogenic, pathogenic	Frameshift variant, coding sequence variant

Show/Hide all(439)

miRTarBase ID	miRNA	Experiments	Reference
MIRT024703	hsa-miR-215-5p	Microarray	19074876
MIRT026099	hsa-miR-196a-5p	Sequencing	20371350
MIRT026510	hsa-miR-192-5p	Microarray	19074876
MIRT051015	hsa-miR-17-5p	CLASH	23622248
MIRT050615	hsa-miR-20a-5p	CLASH	23622248
MIRT048890	hsa-miR-93-5p	CLASH	23622248
MIRT048350	hsa-miR-106a-5p	CLASH	23622248
MIRT046635	hsa-miR-222-3p	CLASH	23622248
MIRT044362	hsa-miR-106b-5p	CLASH	23622248
MIRT041791	hsa-miR-484	CLASH	23622248
MIRT041146	hsa-miR-500a-3p	CLASH	23622248
MIRT036426	hsa-miR-1226-3p	CLASH	23622248
MIRT571442	hsa-miR-660-5p	PAR-CLIP	20371350
MIRT571441	hsa-miR-619-3p	PAR-CLIP	20371350
MIRT571440	hsa-miR-7851-3p	PAR-CLIP	20371350
MIRT571439	hsa-miR-6729-3p	PAR-CLIP	20371350
MIRT571438	hsa-miR-4707-5p	PAR-CLIP	20371350
MIRT571437	hsa-miR-5587-3p	PAR-CLIP	20371350
MIRT571436	hsa-miR-5591-3p	PAR-CLIP	20371350
MIRT571435	hsa-miR-6763-3p	PAR-CLIP	20371350
MIRT532426	hsa-miR-1255b-2-3p	PAR-CLIP	22012620
MIRT571442	hsa-miR-660-5p	PAR-CLIP	20371350
MIRT571441	hsa-miR-619-3p	PAR-CLIP	20371350
MIRT571440	hsa-miR-7851-3p	PAR-CLIP	20371350
MIRT571439	hsa-miR-6729-3p	PAR-CLIP	20371350
MIRT571438	hsa-miR-4707-5p	PAR-CLIP	20371350
MIRT571437	hsa-miR-5587-3p	PAR-CLIP	20371350
MIRT571436	hsa-miR-5591-3p	PAR-CLIP	20371350
MIRT571435	hsa-miR-6763-3p	PAR-CLIP	20371350
MIRT532426	hsa-miR-1255b-2-3p	PAR-CLIP	22012620
MIRT868970	hsa-miR-103a	CLIP-seq
MIRT868971	hsa-miR-107	CLIP-seq
MIRT868972	hsa-miR-1184	CLIP-seq
MIRT868973	hsa-miR-1224-3p	CLIP-seq
MIRT868974	hsa-miR-1233	CLIP-seq
MIRT868975	hsa-miR-1252	CLIP-seq
MIRT868976	hsa-miR-125a-5p	CLIP-seq
MIRT868977	hsa-miR-125b	CLIP-seq
MIRT868978	hsa-miR-1260	CLIP-seq
MIRT868979	hsa-miR-1260b	CLIP-seq
MIRT868980	hsa-miR-1270	CLIP-seq
MIRT868981	hsa-miR-1280	CLIP-seq
MIRT868982	hsa-miR-129-3p	CLIP-seq
MIRT868983	hsa-miR-1303	CLIP-seq
MIRT868984	hsa-miR-1305	CLIP-seq
MIRT868985	hsa-miR-137	CLIP-seq
MIRT868986	hsa-miR-141	CLIP-seq
MIRT868987	hsa-miR-150	CLIP-seq
MIRT868988	hsa-miR-15a	CLIP-seq
MIRT868989	hsa-miR-15b	CLIP-seq
MIRT868990	hsa-miR-16	CLIP-seq
MIRT868991	hsa-miR-1912	CLIP-seq
MIRT868992	hsa-miR-195	CLIP-seq
MIRT868993	hsa-miR-196a	CLIP-seq
MIRT868994	hsa-miR-196b	CLIP-seq
MIRT868995	hsa-miR-19a	CLIP-seq
MIRT868996	hsa-miR-19b	CLIP-seq
MIRT868997	hsa-miR-200a	CLIP-seq
MIRT868998	hsa-miR-216b	CLIP-seq
MIRT868999	hsa-miR-22	CLIP-seq
MIRT869000	hsa-miR-223	CLIP-seq
MIRT869001	hsa-miR-2467-3p	CLIP-seq
MIRT869002	hsa-miR-27a	CLIP-seq
MIRT869003	hsa-miR-27b	CLIP-seq
MIRT869004	hsa-miR-2964a-5p	CLIP-seq
MIRT869005	hsa-miR-298	CLIP-seq
MIRT869006	hsa-miR-299-5p	CLIP-seq
MIRT869007	hsa-miR-300	CLIP-seq
MIRT869008	hsa-miR-3120-3p	CLIP-seq
MIRT869009	hsa-miR-3123	CLIP-seq
MIRT869010	hsa-miR-3130-5p	CLIP-seq
MIRT869011	hsa-miR-3148	CLIP-seq
MIRT869012	hsa-miR-3149	CLIP-seq
MIRT869013	hsa-miR-3152-5p	CLIP-seq
MIRT869014	hsa-miR-3180-5p	CLIP-seq
MIRT869015	hsa-miR-3190	CLIP-seq
MIRT869016	hsa-miR-3199	CLIP-seq
MIRT869017	hsa-miR-323-3p	CLIP-seq
MIRT869018	hsa-miR-337-3p	CLIP-seq
MIRT869019	hsa-miR-34b	CLIP-seq
MIRT869020	hsa-miR-3607-3p	CLIP-seq
MIRT869021	hsa-miR-361-5p	CLIP-seq
MIRT869022	hsa-miR-365	CLIP-seq
MIRT869023	hsa-miR-3651	CLIP-seq
MIRT869024	hsa-miR-3662	CLIP-seq
MIRT869025	hsa-miR-3668	CLIP-seq
MIRT869026	hsa-miR-3678-3p	CLIP-seq
MIRT869027	hsa-miR-3682-3p	CLIP-seq
MIRT869028	hsa-miR-3686	CLIP-seq
MIRT869029	hsa-miR-3714	CLIP-seq
MIRT869030	hsa-miR-371b-5p	CLIP-seq
MIRT869031	hsa-miR-374a	CLIP-seq
MIRT869032	hsa-miR-374b	CLIP-seq
MIRT869033	hsa-miR-381	CLIP-seq
MIRT869034	hsa-miR-3908	CLIP-seq
MIRT869035	hsa-miR-3922-5p	CLIP-seq
MIRT869036	hsa-miR-3925-5p	CLIP-seq
MIRT869037	hsa-miR-3927	CLIP-seq
MIRT869038	hsa-miR-3976	CLIP-seq
MIRT869039	hsa-miR-424	CLIP-seq
MIRT869040	hsa-miR-4264	CLIP-seq
MIRT869041	hsa-miR-4268	CLIP-seq
MIRT869042	hsa-miR-4310	CLIP-seq
MIRT869043	hsa-miR-4314	CLIP-seq
MIRT869044	hsa-miR-4318	CLIP-seq
MIRT869045	hsa-miR-4319	CLIP-seq
MIRT869046	hsa-miR-432	CLIP-seq
MIRT869047	hsa-miR-4328	CLIP-seq
MIRT869048	hsa-miR-4419a	CLIP-seq
MIRT869049	hsa-miR-4421	CLIP-seq
MIRT869050	hsa-miR-4434	CLIP-seq
MIRT869051	hsa-miR-4448	CLIP-seq
MIRT869052	hsa-miR-4464	CLIP-seq
MIRT869053	hsa-miR-4482	CLIP-seq
MIRT869054	hsa-miR-4496	CLIP-seq
MIRT869055	hsa-miR-4502	CLIP-seq
MIRT869056	hsa-miR-4510	CLIP-seq
MIRT869057	hsa-miR-4516	CLIP-seq
MIRT869058	hsa-miR-4528	CLIP-seq
MIRT869059	hsa-miR-4531	CLIP-seq
MIRT869060	hsa-miR-4539	CLIP-seq
MIRT869061	hsa-miR-4635	CLIP-seq
MIRT869062	hsa-miR-4652-3p	CLIP-seq
MIRT869063	hsa-miR-4659a-5p	CLIP-seq
MIRT869064	hsa-miR-4659b-5p	CLIP-seq
MIRT869065	hsa-miR-4666-5p	CLIP-seq
MIRT869066	hsa-miR-4697-3p	CLIP-seq
MIRT869067	hsa-miR-4713-5p	CLIP-seq
MIRT869068	hsa-miR-4716-5p	CLIP-seq
MIRT869069	hsa-miR-4717-5p	CLIP-seq
MIRT869070	hsa-miR-4720-3p	CLIP-seq
MIRT869071	hsa-miR-4732-3p	CLIP-seq
MIRT869072	hsa-miR-4742-3p	CLIP-seq
MIRT869073	hsa-miR-4748	CLIP-seq
MIRT869074	hsa-miR-4753-5p	CLIP-seq
MIRT869075	hsa-miR-4756-3p	CLIP-seq
MIRT869076	hsa-miR-4769-3p	CLIP-seq
MIRT869077	hsa-miR-4773	CLIP-seq
MIRT869078	hsa-miR-4775	CLIP-seq
MIRT869079	hsa-miR-4797-3p	CLIP-seq
MIRT869080	hsa-miR-4804-3p	CLIP-seq
MIRT869081	hsa-miR-494	CLIP-seq
MIRT869082	hsa-miR-497	CLIP-seq
MIRT869083	hsa-miR-499a-5p	CLIP-seq
MIRT869084	hsa-miR-5096	CLIP-seq
MIRT869085	hsa-miR-513a-3p	CLIP-seq
MIRT869086	hsa-miR-513a-5p	CLIP-seq
MIRT869087	hsa-miR-520d-5p	CLIP-seq
MIRT869088	hsa-miR-524-5p	CLIP-seq
MIRT869089	hsa-miR-526b	CLIP-seq
MIRT869090	hsa-miR-532-3p	CLIP-seq
MIRT869091	hsa-miR-548aa	CLIP-seq
MIRT869092	hsa-miR-548ac	CLIP-seq
MIRT869093	hsa-miR-548an	CLIP-seq
MIRT869094	hsa-miR-548d-3p	CLIP-seq
MIRT869095	hsa-miR-548m	CLIP-seq
MIRT869096	hsa-miR-548z	CLIP-seq
MIRT869097	hsa-miR-550b	CLIP-seq
MIRT869098	hsa-miR-561	CLIP-seq
MIRT869099	hsa-miR-570	CLIP-seq
MIRT869100	hsa-miR-576-3p	CLIP-seq
MIRT869101	hsa-miR-577	CLIP-seq
MIRT869102	hsa-miR-587	CLIP-seq
MIRT869103	hsa-miR-590-3p	CLIP-seq
MIRT869104	hsa-miR-617	CLIP-seq
MIRT869105	hsa-miR-619	CLIP-seq
MIRT869106	hsa-miR-620	CLIP-seq
MIRT869107	hsa-miR-622	CLIP-seq
MIRT869108	hsa-miR-633	CLIP-seq
MIRT869109	hsa-miR-651	CLIP-seq
MIRT869110	hsa-miR-660	CLIP-seq
MIRT869111	hsa-miR-670	CLIP-seq
MIRT869112	hsa-miR-888	CLIP-seq
MIRT869113	hsa-miR-890	CLIP-seq
MIRT869114	hsa-miR-891b	CLIP-seq
MIRT869115	hsa-miR-935	CLIP-seq
MIRT869087	hsa-miR-520d-5p	CLIP-seq
MIRT869088	hsa-miR-524-5p	CLIP-seq
MIRT868973	hsa-miR-1224-3p	CLIP-seq
MIRT868978	hsa-miR-1260	CLIP-seq
MIRT868979	hsa-miR-1260b	CLIP-seq
MIRT1957865	hsa-miR-1269	CLIP-seq
MIRT1957866	hsa-miR-1269b	CLIP-seq
MIRT868980	hsa-miR-1270	CLIP-seq
MIRT868981	hsa-miR-1280	CLIP-seq
MIRT1957867	hsa-miR-1288	CLIP-seq
MIRT868983	hsa-miR-1303	CLIP-seq
MIRT868984	hsa-miR-1305	CLIP-seq
MIRT868987	hsa-miR-150	CLIP-seq
MIRT868993	hsa-miR-196a	CLIP-seq
MIRT868994	hsa-miR-196b	CLIP-seq
MIRT868995	hsa-miR-19a	CLIP-seq
MIRT868996	hsa-miR-19b	CLIP-seq
MIRT869004	hsa-miR-2964a-5p	CLIP-seq
MIRT869006	hsa-miR-299-5p	CLIP-seq
MIRT869011	hsa-miR-3148	CLIP-seq
MIRT1957868	hsa-miR-3187-3p	CLIP-seq
MIRT869018	hsa-miR-337-3p	CLIP-seq
MIRT869019	hsa-miR-34b	CLIP-seq
MIRT869021	hsa-miR-361-5p	CLIP-seq
MIRT869022	hsa-miR-365	CLIP-seq
MIRT869023	hsa-miR-3651	CLIP-seq
MIRT1957869	hsa-miR-3677-3p	CLIP-seq
MIRT869028	hsa-miR-3686	CLIP-seq
MIRT869034	hsa-miR-3908	CLIP-seq
MIRT869037	hsa-miR-3927	CLIP-seq
MIRT869040	hsa-miR-4264	CLIP-seq
MIRT869042	hsa-miR-4310	CLIP-seq
MIRT869046	hsa-miR-432	CLIP-seq
MIRT869047	hsa-miR-4328	CLIP-seq
MIRT869050	hsa-miR-4434	CLIP-seq
MIRT1957870	hsa-miR-4515	CLIP-seq
MIRT869057	hsa-miR-4516	CLIP-seq
MIRT1957871	hsa-miR-4529-5p	CLIP-seq
MIRT869059	hsa-miR-4531	CLIP-seq
MIRT869062	hsa-miR-4652-3p	CLIP-seq
MIRT1957872	hsa-miR-4672	CLIP-seq
MIRT1957873	hsa-miR-4694-3p	CLIP-seq
MIRT1957874	hsa-miR-4705	CLIP-seq
MIRT869067	hsa-miR-4713-5p	CLIP-seq
MIRT869070	hsa-miR-4720-3p	CLIP-seq
MIRT1957875	hsa-miR-4740-5p	CLIP-seq
MIRT869072	hsa-miR-4742-3p	CLIP-seq
MIRT869078	hsa-miR-4775	CLIP-seq
MIRT869079	hsa-miR-4797-3p	CLIP-seq
MIRT869080	hsa-miR-4804-3p	CLIP-seq
MIRT869083	hsa-miR-499a-5p	CLIP-seq
MIRT869085	hsa-miR-513a-3p	CLIP-seq
MIRT869087	hsa-miR-520d-5p	CLIP-seq
MIRT869088	hsa-miR-524-5p	CLIP-seq
MIRT869090	hsa-miR-532-3p	CLIP-seq
MIRT1957876	hsa-miR-539	CLIP-seq
MIRT869092	hsa-miR-548ac	CLIP-seq
MIRT1957877	hsa-miR-548ae	CLIP-seq
MIRT1957878	hsa-miR-548aj	CLIP-seq
MIRT1957879	hsa-miR-548am	CLIP-seq
MIRT869094	hsa-miR-548d-3p	CLIP-seq
MIRT1957880	hsa-miR-548x	CLIP-seq
MIRT869096	hsa-miR-548z	CLIP-seq
MIRT869100	hsa-miR-576-3p	CLIP-seq
MIRT1957881	hsa-miR-580	CLIP-seq
MIRT869103	hsa-miR-590-3p	CLIP-seq
MIRT869104	hsa-miR-617	CLIP-seq
MIRT869105	hsa-miR-619	CLIP-seq
MIRT869106	hsa-miR-620	CLIP-seq
MIRT869107	hsa-miR-622	CLIP-seq
MIRT869108	hsa-miR-633	CLIP-seq
MIRT1957882	hsa-miR-668	CLIP-seq
MIRT869113	hsa-miR-890	CLIP-seq
MIRT868973	hsa-miR-1224-3p	CLIP-seq
MIRT868976	hsa-miR-125a-5p	CLIP-seq
MIRT868977	hsa-miR-125b	CLIP-seq
MIRT868984	hsa-miR-1305	CLIP-seq
MIRT868991	hsa-miR-1912	CLIP-seq
MIRT869001	hsa-miR-2467-3p	CLIP-seq
MIRT2194890	hsa-miR-2861	CLIP-seq
MIRT869004	hsa-miR-2964a-5p	CLIP-seq
MIRT869006	hsa-miR-299-5p	CLIP-seq
MIRT869010	hsa-miR-3130-5p	CLIP-seq
MIRT869011	hsa-miR-3148	CLIP-seq
MIRT869015	hsa-miR-3190	CLIP-seq
MIRT869017	hsa-miR-323-3p	CLIP-seq
MIRT869019	hsa-miR-34b	CLIP-seq
MIRT869023	hsa-miR-3651	CLIP-seq
MIRT869028	hsa-miR-3686	CLIP-seq
MIRT869035	hsa-miR-3922-5p	CLIP-seq
MIRT2194891	hsa-miR-4279	CLIP-seq
MIRT869043	hsa-miR-4314	CLIP-seq
MIRT869044	hsa-miR-4318	CLIP-seq
MIRT869045	hsa-miR-4319	CLIP-seq
MIRT869048	hsa-miR-4419a	CLIP-seq
MIRT869050	hsa-miR-4434	CLIP-seq
MIRT869053	hsa-miR-4482	CLIP-seq
MIRT869056	hsa-miR-4510	CLIP-seq
MIRT869057	hsa-miR-4516	CLIP-seq
MIRT869058	hsa-miR-4528	CLIP-seq
MIRT2194892	hsa-miR-4691-5p	CLIP-seq
MIRT1957874	hsa-miR-4705	CLIP-seq
MIRT869069	hsa-miR-4717-5p	CLIP-seq
MIRT869071	hsa-miR-4732-3p	CLIP-seq
MIRT869074	hsa-miR-4753-5p	CLIP-seq
MIRT2194893	hsa-miR-4757-5p	CLIP-seq
MIRT869078	hsa-miR-4775	CLIP-seq
MIRT2194894	hsa-miR-4802-3p	CLIP-seq
MIRT869085	hsa-miR-513a-3p	CLIP-seq
MIRT869087	hsa-miR-520d-5p	CLIP-seq
MIRT869088	hsa-miR-524-5p	CLIP-seq
MIRT869090	hsa-miR-532-3p	CLIP-seq
MIRT869092	hsa-miR-548ac	CLIP-seq
MIRT1957877	hsa-miR-548ae	CLIP-seq
MIRT1957878	hsa-miR-548aj	CLIP-seq
MIRT1957879	hsa-miR-548am	CLIP-seq
MIRT869094	hsa-miR-548d-3p	CLIP-seq
MIRT1957880	hsa-miR-548x	CLIP-seq
MIRT869096	hsa-miR-548z	CLIP-seq
MIRT2194895	hsa-miR-571	CLIP-seq
MIRT869100	hsa-miR-576-3p	CLIP-seq
MIRT869101	hsa-miR-577	CLIP-seq
MIRT869103	hsa-miR-590-3p	CLIP-seq
MIRT869108	hsa-miR-633	CLIP-seq
MIRT2194896	hsa-miR-659	CLIP-seq
MIRT869111	hsa-miR-670	CLIP-seq
MIRT868973	hsa-miR-1224-3p	CLIP-seq
MIRT868978	hsa-miR-1260	CLIP-seq
MIRT868979	hsa-miR-1260b	CLIP-seq
MIRT868981	hsa-miR-1280	CLIP-seq
MIRT868987	hsa-miR-150	CLIP-seq
MIRT869042	hsa-miR-4310	CLIP-seq
MIRT869067	hsa-miR-4713-5p	CLIP-seq
MIRT869090	hsa-miR-532-3p	CLIP-seq
MIRT868973	hsa-miR-1224-3p	CLIP-seq
MIRT868978	hsa-miR-1260	CLIP-seq
MIRT868979	hsa-miR-1260b	CLIP-seq
MIRT868981	hsa-miR-1280	CLIP-seq
MIRT2498194	hsa-miR-136	CLIP-seq
MIRT868991	hsa-miR-1912	CLIP-seq
MIRT2498195	hsa-miR-192	CLIP-seq
MIRT2498196	hsa-miR-215	CLIP-seq
MIRT869001	hsa-miR-2467-3p	CLIP-seq
MIRT2498197	hsa-miR-302a	CLIP-seq
MIRT2498198	hsa-miR-302b	CLIP-seq
MIRT2498199	hsa-miR-302c	CLIP-seq
MIRT2498200	hsa-miR-302d	CLIP-seq
MIRT2498201	hsa-miR-302e	CLIP-seq
MIRT869009	hsa-miR-3123	CLIP-seq
MIRT869010	hsa-miR-3130-5p	CLIP-seq
MIRT2498202	hsa-miR-3133	CLIP-seq
MIRT869011	hsa-miR-3148	CLIP-seq
MIRT2498203	hsa-miR-3160-5p	CLIP-seq
MIRT2498204	hsa-miR-3163	CLIP-seq
MIRT1957868	hsa-miR-3187-3p	CLIP-seq
MIRT869015	hsa-miR-3190	CLIP-seq
MIRT2498205	hsa-miR-340	CLIP-seq
MIRT2498206	hsa-miR-3653	CLIP-seq
MIRT869024	hsa-miR-3662	CLIP-seq
MIRT1957869	hsa-miR-3677-3p	CLIP-seq
MIRT869026	hsa-miR-3678-3p	CLIP-seq
MIRT2498207	hsa-miR-372	CLIP-seq
MIRT2498208	hsa-miR-373	CLIP-seq
MIRT869034	hsa-miR-3908	CLIP-seq
MIRT869036	hsa-miR-3925-5p	CLIP-seq
MIRT2498209	hsa-miR-3941	CLIP-seq
MIRT869038	hsa-miR-3976	CLIP-seq
MIRT869044	hsa-miR-4318	CLIP-seq
MIRT869048	hsa-miR-4419a	CLIP-seq
MIRT869050	hsa-miR-4434	CLIP-seq
MIRT869053	hsa-miR-4482	CLIP-seq
MIRT869056	hsa-miR-4510	CLIP-seq
MIRT869057	hsa-miR-4516	CLIP-seq
MIRT1957871	hsa-miR-4529-5p	CLIP-seq
MIRT869060	hsa-miR-4539	CLIP-seq
MIRT2498210	hsa-miR-4643	CLIP-seq
MIRT2498211	hsa-miR-466	CLIP-seq
MIRT1957872	hsa-miR-4672	CLIP-seq
MIRT2498212	hsa-miR-4729	CLIP-seq
MIRT2498213	hsa-miR-4733-3p	CLIP-seq
MIRT869075	hsa-miR-4756-3p	CLIP-seq
MIRT869077	hsa-miR-4773	CLIP-seq
MIRT2498214	hsa-miR-4789-3p	CLIP-seq
MIRT2498215	hsa-miR-488	CLIP-seq
MIRT2498216	hsa-miR-515-5p	CLIP-seq
MIRT2498217	hsa-miR-519a	CLIP-seq
MIRT2498218	hsa-miR-519b-3p	CLIP-seq
MIRT2498219	hsa-miR-519c-3p	CLIP-seq
MIRT2498220	hsa-miR-520a-3p	CLIP-seq
MIRT2498221	hsa-miR-520b	CLIP-seq
MIRT2498222	hsa-miR-520c-3p	CLIP-seq
MIRT2498223	hsa-miR-520d-3p	CLIP-seq
MIRT2498224	hsa-miR-520e	CLIP-seq
MIRT2498225	hsa-miR-548c-3p	CLIP-seq
MIRT869101	hsa-miR-577	CLIP-seq
MIRT2498226	hsa-miR-578	CLIP-seq
MIRT869105	hsa-miR-619	CLIP-seq
MIRT869110	hsa-miR-660	CLIP-seq
MIRT2498227	hsa-miR-664	CLIP-seq
MIRT1957882	hsa-miR-668	CLIP-seq
MIRT868973	hsa-miR-1224-3p	CLIP-seq
MIRT868974	hsa-miR-1233	CLIP-seq
MIRT868978	hsa-miR-1260	CLIP-seq
MIRT868979	hsa-miR-1260b	CLIP-seq
MIRT868981	hsa-miR-1280	CLIP-seq
MIRT868982	hsa-miR-129-3p	CLIP-seq
MIRT868991	hsa-miR-1912	CLIP-seq
MIRT2498195	hsa-miR-192	CLIP-seq
MIRT2498196	hsa-miR-215	CLIP-seq
MIRT868998	hsa-miR-216b	CLIP-seq
MIRT869001	hsa-miR-2467-3p	CLIP-seq
MIRT869009	hsa-miR-3123	CLIP-seq
MIRT869010	hsa-miR-3130-5p	CLIP-seq
MIRT2498202	hsa-miR-3133	CLIP-seq
MIRT869011	hsa-miR-3148	CLIP-seq
MIRT2498203	hsa-miR-3160-5p	CLIP-seq
MIRT869014	hsa-miR-3180-5p	CLIP-seq
MIRT1957868	hsa-miR-3187-3p	CLIP-seq
MIRT869015	hsa-miR-3190	CLIP-seq
MIRT869020	hsa-miR-3607-3p	CLIP-seq
MIRT2498206	hsa-miR-3653	CLIP-seq
MIRT869024	hsa-miR-3662	CLIP-seq
MIRT1957869	hsa-miR-3677-3p	CLIP-seq
MIRT869028	hsa-miR-3686	CLIP-seq
MIRT2677496	hsa-miR-380	CLIP-seq
MIRT869034	hsa-miR-3908	CLIP-seq
MIRT869035	hsa-miR-3922-5p	CLIP-seq
MIRT869036	hsa-miR-3925-5p	CLIP-seq
MIRT2498209	hsa-miR-3941	CLIP-seq
MIRT869038	hsa-miR-3976	CLIP-seq
MIRT2677497	hsa-miR-4263	CLIP-seq
MIRT869044	hsa-miR-4318	CLIP-seq
MIRT869048	hsa-miR-4419a	CLIP-seq
MIRT2677498	hsa-miR-4432	CLIP-seq
MIRT869050	hsa-miR-4434	CLIP-seq
MIRT869052	hsa-miR-4464	CLIP-seq
MIRT869053	hsa-miR-4482	CLIP-seq
MIRT869056	hsa-miR-4510	CLIP-seq
MIRT869057	hsa-miR-4516	CLIP-seq
MIRT1957871	hsa-miR-4529-5p	CLIP-seq
MIRT2498210	hsa-miR-4643	CLIP-seq
MIRT2498211	hsa-miR-466	CLIP-seq
MIRT1957872	hsa-miR-4672	CLIP-seq
MIRT869069	hsa-miR-4717-5p	CLIP-seq
MIRT869073	hsa-miR-4748	CLIP-seq
MIRT869074	hsa-miR-4753-5p	CLIP-seq
MIRT869077	hsa-miR-4773	CLIP-seq
MIRT2498214	hsa-miR-4789-3p	CLIP-seq
MIRT2677499	hsa-miR-4797-5p	CLIP-seq
MIRT2677500	hsa-miR-4799-5p	CLIP-seq
MIRT2498215	hsa-miR-488	CLIP-seq
MIRT869081	hsa-miR-494	CLIP-seq
MIRT2677501	hsa-miR-499-5p	CLIP-seq
MIRT869091	hsa-miR-548aa	CLIP-seq
MIRT2498225	hsa-miR-548c-3p	CLIP-seq
MIRT869095	hsa-miR-548m	CLIP-seq
MIRT2677502	hsa-miR-576-5p	CLIP-seq
MIRT869101	hsa-miR-577	CLIP-seq
MIRT2498226	hsa-miR-578	CLIP-seq
MIRT869105	hsa-miR-619	CLIP-seq
MIRT869110	hsa-miR-660	CLIP-seq
MIRT2498227	hsa-miR-664	CLIP-seq
MIRT1957882	hsa-miR-668	CLIP-seq

Show/Hide all(15)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001649	Process	Osteoblast differentiation	HDA	16210410
GO:0003723	Function	RNA binding	HDA	22658674
GO:0005509	Function	Calcium ion binding	IBA	21873635
GO:0005515	Function	Protein binding	IPI	21903422, 32814053
GO:0005783	Component	Endoplasmic reticulum	IBA	21873635
GO:0005783	Component	Endoplasmic reticulum	IDA
GO:0006983	Process	ER overload response	IEA
GO:0007029	Process	Endoplasmic reticulum organization	IEA
GO:0009791	Process	Post-embryonic development	IEA
GO:0016020	Component	Membrane	HDA	16210410, 19946888
GO:0016021	Component	Integral component of membrane	IEA
GO:0030433	Process	Ubiquitin-dependent ERAD pathway	IEA
GO:0030867	Component	Rough endoplasmic reticulum membrane	IEA
GO:0032469	Process	Endoplasmic reticulum calcium ion homeostasis	IMP	30401460
GO:0036503	Process	ERAD pathway	IMP	25009997

MIM	HGNC	e!Ensembl
618260	24856	ENSG00000108588

Protein

UniProt ID

Q96A33

Protein name

PAT complex subunit CCDC47 (Calumin) (Coiled-coil domain-containing protein 47)

Protein function

Component of the multi-pass translocon (MPT) complex that mediates insertion of multi-pass membrane proteins into the lipid bilayer of membranes (PubMed:32814900, PubMed:32820719, PubMed:36261522). The MPT complex takes over after the SEC61 comp

PDB

6W6L

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF07946	DUF1682	135 → 467	Protein of unknown function (DUF1682)	Family

Sequence

MKAFHTFCVVLLVFGSVSEAKFDDFEDEEDIVEYDDNDFAEFEDVMEDSVTESPQRVIIT
EDDEDETTVELEGQDENQEGDFEDADTQEGDTESEPYDDEEFEGYEDKPDTSSSKNKDPI
TIVDVPAHLQNSWESYYLEILMVTGLLAYIMNYIIGKNKNSRLAQAWFNTHRELLESNFT
LVGDDGTNKEATSTGKLNQENEHIYNLWCSGRVCCEGMLIQLRFLKRQDLLNVLARMMRP
VSDQVQIKVTMNDEDMDTYVFAVGTRKALVRLQKEMQDLSEFCSDKPKSGAKYGLPDSLA
ILSEMGEVTDGMMDTKMVHFLTHYADKIESVHFSDQFSGPKIMQEEGQPLKLPDTKRTLL
FTFNVPGSGNTYPKDMEALLPLMNMVIYSIDKAKKFRLNREGKQKADKNRARVEENFLKL
THVQRQEAAQSRREEKKRAEKERIMNEEDPEKQRRLEEAALRREQKKLEKKQMKMKQIKV
KAM

Sequence length

483

Interactions

View interactions

Show/Hide Causal Diseases (5)

Disease term	Disease name	dbSNP ID	References
Causal
Developmental delay	Global developmental delay	rs28941770, rs199469464, rs281865469, rs143747297, rs398123009, rs587777428, rs786205133, rs606231459, rs797044854, rs797045027, rs864309504, rs878853160, rs886039902, rs886042046, rs886041291 View all (32 more)	30401460
Distal arthrogryposis	Distal arthrogryposis syndrome	rs121434638, rs104894127, rs104894129, rs137853305, rs137853306, rs199476153, rs199476147, rs121913619, rs879255230, rs387906657, rs387906658, rs199474721, rs587776917, rs587776918, rs587776919 View all (41 more)
Mental retardation	Intellectual Disability	rs5742905, rs267607136, rs267607137, rs2131714307, rs267607038, rs267607042, rs80338685, rs137853127, rs80338815, rs28940893, rs387906309, rs121908096, rs121908099, rs587784365, rs121918315 View all (1024 more)	30401460
Microcephaly	Microcephaly	rs397704721, rs267607176, rs267607177, rs397704725, rs267606717, rs267606718, rs199422202, rs121434311, rs199422203, rs199422126, rs387906274, rs121434305, rs199422125, rs199422135, rs189678019 View all (280 more)
Trichohepatoneurodevelopmental syndrome	TRICHOHEPATONEURODEVELOPMENTAL SYNDROME	rs1269750663, rs1568246398, rs750123815, rs749027804	30401460

Show/Hide Unknown Diseases (3)

Disease term	Disease name	Source
Unknown
Otitis media	Otitis Media	ClinVar
Ptosis	Blepharoptosis, Ptosis	ClinVar
TRICHOHEPATONEURODEVELOPMENTAL SYNDROME	trichohepatoneurodevelopmental syndrome	GenCC

Show/Hide Text Mining Associations (2)

Disease Name	Relationship Type	References
Associations from Text Mining
Choroid Plexus Neoplasms	Associate	33249490
Papilloma Choroid Plexus	Associate	33249490

CCDC47 (coiled-coil domain containing 47)