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.	83636
Gene name Gene Name - the full gene name approved by the HGNC.	Chromosome 19 open reading frame 12
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	C19orf12
Synonyms (NCBI Gene) Gene synonyms aliases	MPAN, NBIA3, NBIA4, SPG43
Disease Acronyms (UniProt) Disease acronyms from UniProt database	NBIA3, NBIA4, SPG43
Chromosome Chromosome number	19
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	19q12
Summary Summary of gene provided in NCBI Entrez Gene.	This gene encodes a small transmembrane protein. Mutations in this gene are a cause of neurodegeneration with brain iron accumulation-4 (NBIA4), but the specific function of the encoded protein is unknown. Alternatively spliced transcript variants encodin

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SNP ID	Visualize variation	Clinical significance	Consequence
rs146170087	T>C	Uncertain-significance, conflicting-interpretations-of-pathogenicity, not-provided, pathogenic	Missense variant, genic downstream transcript variant, 3 prime UTR variant, coding sequence variant
rs200133991	C>T	Pathogenic, likely-pathogenic	5 prime UTR variant, genic downstream transcript variant, missense variant, coding sequence variant, intron variant
rs201118405	C>G,T	Conflicting-interpretations-of-pathogenicity, benign, benign-likely-benign	Synonymous variant, 5 prime UTR variant, genic downstream transcript variant, coding sequence variant, intron variant
rs201987973	G>A	Pathogenic	Genic downstream transcript variant, coding sequence variant, missense variant
rs376103979	C>G,T	Pathogenic, likely-pathogenic	5 prime UTR variant, genic downstream transcript variant, missense variant, coding sequence variant, intron variant
rs387907173	A>T	Pathogenic	Genic downstream transcript variant, coding sequence variant, missense variant
rs397514477	G>A	Pathogenic	Coding sequence variant, 5 prime UTR variant, genic downstream transcript variant, missense variant, intron variant
rs398122409	CCC>-,CC,CCCC	Pathogenic	Genic downstream transcript variant, coding sequence variant, 5 prime UTR variant, splice acceptor variant
rs515726204	GACAGCCCCCC>-	Pathogenic	Genic downstream transcript variant, coding sequence variant, frameshift variant, 5 prime UTR variant
rs515726205	C>T	Likely-pathogenic, pathogenic	Genic downstream transcript variant, missense variant, coding sequence variant, 5 prime UTR variant
rs752450983	C>A,G,T	Likely-pathogenic, pathogenic	5 prime UTR variant, coding sequence variant, genic downstream transcript variant, missense variant
rs797045423	TC>ACTGTTCCTCCA	Pathogenic	Frameshift variant, coding sequence variant, genic downstream transcript variant
rs1064797235	G>A	Likely-pathogenic	Coding sequence variant, genic downstream transcript variant, stop gained
rs1352744778	T>-	Pathogenic	Splice acceptor variant, genic downstream transcript variant
rs1424291552	C>G,T	Pathogenic	Synonymous variant, coding sequence variant, intron variant, 5 prime UTR variant, missense variant, genic downstream transcript variant
rs1555714808	C>T	Likely-pathogenic	Intron variant, coding sequence variant, stop gained, genic downstream transcript variant
rs1568326754	->A	Likely-pathogenic	Frameshift variant, coding sequence variant, genic downstream transcript variant
rs1599534276	AT>-	Pathogenic	Frameshift variant, coding sequence variant, genic downstream transcript variant
rs1599534394	CTTGTCATCCA>-	Pathogenic	5 prime UTR variant, genic downstream transcript variant, coding sequence variant, initiator codon variant, frameshift variant

Show/Hide all(505)

miRTarBase ID	miRNA	Experiments	Reference
MIRT025866	hsa-miR-7-5p	Sequencing	20371350
MIRT042283	hsa-miR-484	CLASH	23622248
MIRT549575	hsa-miR-5197-5p	PAR-CLIP	21572407
MIRT549574	hsa-miR-5584-5p	PAR-CLIP	21572407
MIRT549573	hsa-miR-6750-5p	PAR-CLIP	21572407
MIRT549572	hsa-miR-6822-5p	PAR-CLIP	21572407
MIRT549571	hsa-miR-9500	PAR-CLIP	21572407
MIRT117718	hsa-miR-1279	PAR-CLIP	21572407
MIRT549570	hsa-miR-187-5p	PAR-CLIP	21572407
MIRT549569	hsa-miR-548v	PAR-CLIP	21572407
MIRT549568	hsa-miR-221-3p	PAR-CLIP	21572407
MIRT549567	hsa-miR-222-3p	PAR-CLIP	21572407
MIRT549566	hsa-miR-31-5p	PAR-CLIP	21572407
MIRT549565	hsa-miR-6809-5p	PAR-CLIP	21572407
MIRT549564	hsa-miR-6753-3p	PAR-CLIP	21572407
MIRT549563	hsa-miR-7107-3p	PAR-CLIP	21572407
MIRT549562	hsa-miR-3162-5p	PAR-CLIP	21572407
MIRT549561	hsa-miR-2909	PAR-CLIP	21572407
MIRT525212	hsa-miR-1277-5p	PAR-CLIP	22012620
MIRT525211	hsa-miR-511-3p	PAR-CLIP	22012620
MIRT525210	hsa-miR-3177-5p	PAR-CLIP	22012620
MIRT441072	hsa-miR-218-5p	HITS-CLIP	23212916
MIRT441072	hsa-miR-218-5p	HITS-CLIP	23212916
MIRT549575	hsa-miR-5197-5p	PAR-CLIP	21572407
MIRT549574	hsa-miR-5584-5p	PAR-CLIP	21572407
MIRT549573	hsa-miR-6750-5p	PAR-CLIP	21572407
MIRT549572	hsa-miR-6822-5p	PAR-CLIP	21572407
MIRT549571	hsa-miR-9500	PAR-CLIP	21572407
MIRT117718	hsa-miR-1279	PAR-CLIP	21572407
MIRT549570	hsa-miR-187-5p	PAR-CLIP	21572407
MIRT549569	hsa-miR-548v	PAR-CLIP	21572407
MIRT549568	hsa-miR-221-3p	PAR-CLIP	21572407
MIRT549567	hsa-miR-222-3p	PAR-CLIP	21572407
MIRT549566	hsa-miR-31-5p	PAR-CLIP	21572407
MIRT549565	hsa-miR-6809-5p	PAR-CLIP	21572407
MIRT549564	hsa-miR-6753-3p	PAR-CLIP	21572407
MIRT549563	hsa-miR-7107-3p	PAR-CLIP	21572407
MIRT549562	hsa-miR-3162-5p	PAR-CLIP	21572407
MIRT549561	hsa-miR-2909	PAR-CLIP	21572407
MIRT525212	hsa-miR-1277-5p	PAR-CLIP	22012620
MIRT525211	hsa-miR-511-3p	PAR-CLIP	22012620
MIRT525210	hsa-miR-3177-5p	PAR-CLIP	22012620
MIRT837916	hsa-miR-1297	CLIP-seq
MIRT837917	hsa-miR-135a	CLIP-seq
MIRT837918	hsa-miR-135b	CLIP-seq
MIRT837919	hsa-miR-155	CLIP-seq
MIRT837920	hsa-miR-1587	CLIP-seq
MIRT837921	hsa-miR-15a	CLIP-seq
MIRT837922	hsa-miR-15b	CLIP-seq
MIRT837923	hsa-miR-16	CLIP-seq
MIRT837924	hsa-miR-181a	CLIP-seq
MIRT837925	hsa-miR-181b	CLIP-seq
MIRT837926	hsa-miR-181c	CLIP-seq
MIRT837927	hsa-miR-181d	CLIP-seq
MIRT837928	hsa-miR-1827	CLIP-seq
MIRT837929	hsa-miR-195	CLIP-seq
MIRT837930	hsa-miR-2054	CLIP-seq
MIRT837931	hsa-miR-23a	CLIP-seq
MIRT837932	hsa-miR-23b	CLIP-seq
MIRT837933	hsa-miR-23c	CLIP-seq
MIRT837934	hsa-miR-25	CLIP-seq
MIRT837935	hsa-miR-26a	CLIP-seq
MIRT837936	hsa-miR-26b	CLIP-seq
MIRT837937	hsa-miR-30a	CLIP-seq
MIRT837938	hsa-miR-30b	CLIP-seq
MIRT837939	hsa-miR-30c	CLIP-seq
MIRT837940	hsa-miR-30d	CLIP-seq
MIRT837941	hsa-miR-30e	CLIP-seq
MIRT837942	hsa-miR-31	CLIP-seq
MIRT837943	hsa-miR-3119	CLIP-seq
MIRT837944	hsa-miR-3122	CLIP-seq
MIRT837945	hsa-miR-3156-3p	CLIP-seq
MIRT837946	hsa-miR-32	CLIP-seq
MIRT837947	hsa-miR-330-3p	CLIP-seq
MIRT837948	hsa-miR-338-3p	CLIP-seq
MIRT837949	hsa-miR-338-5p	CLIP-seq
MIRT837950	hsa-miR-3591-5p	CLIP-seq
MIRT837951	hsa-miR-3612	CLIP-seq
MIRT837952	hsa-miR-363	CLIP-seq
MIRT837953	hsa-miR-367	CLIP-seq
MIRT837954	hsa-miR-3674	CLIP-seq
MIRT837955	hsa-miR-3681	CLIP-seq
MIRT837956	hsa-miR-3689a-3p	CLIP-seq
MIRT837957	hsa-miR-3689c	CLIP-seq
MIRT837958	hsa-miR-369-3p	CLIP-seq
MIRT837959	hsa-miR-374a	CLIP-seq
MIRT837960	hsa-miR-374b	CLIP-seq
MIRT837961	hsa-miR-3913-5p	CLIP-seq
MIRT837962	hsa-miR-3929	CLIP-seq
MIRT837963	hsa-miR-424	CLIP-seq
MIRT837964	hsa-miR-4262	CLIP-seq
MIRT837965	hsa-miR-4266	CLIP-seq
MIRT837966	hsa-miR-4269	CLIP-seq
MIRT837967	hsa-miR-4301	CLIP-seq
MIRT837968	hsa-miR-4325	CLIP-seq
MIRT837969	hsa-miR-4419b	CLIP-seq
MIRT837970	hsa-miR-4459	CLIP-seq
MIRT837971	hsa-miR-4460	CLIP-seq
MIRT837972	hsa-miR-4464	CLIP-seq
MIRT837973	hsa-miR-4465	CLIP-seq
MIRT837974	hsa-miR-4478	CLIP-seq
MIRT837975	hsa-miR-4492	CLIP-seq
MIRT837976	hsa-miR-4498	CLIP-seq
MIRT837977	hsa-miR-4514	CLIP-seq
MIRT837978	hsa-miR-4524	CLIP-seq
MIRT837979	hsa-miR-4530	CLIP-seq
MIRT837980	hsa-miR-4642	CLIP-seq
MIRT837981	hsa-miR-4649-3p	CLIP-seq
MIRT837982	hsa-miR-4656	CLIP-seq
MIRT837983	hsa-miR-4666-3p	CLIP-seq
MIRT837984	hsa-miR-4675	CLIP-seq
MIRT837985	hsa-miR-4692	CLIP-seq
MIRT837986	hsa-miR-4695-5p	CLIP-seq
MIRT837987	hsa-miR-4711-5p	CLIP-seq
MIRT837988	hsa-miR-4720-5p	CLIP-seq
MIRT837989	hsa-miR-4722-5p	CLIP-seq
MIRT837990	hsa-miR-4727-3p	CLIP-seq
MIRT837991	hsa-miR-4728-5p	CLIP-seq
MIRT837992	hsa-miR-4729	CLIP-seq
MIRT837993	hsa-miR-4741	CLIP-seq
MIRT837994	hsa-miR-4742-5p	CLIP-seq
MIRT837995	hsa-miR-4748	CLIP-seq
MIRT837996	hsa-miR-4757-5p	CLIP-seq
MIRT837997	hsa-miR-4768-3p	CLIP-seq
MIRT837998	hsa-miR-4779	CLIP-seq
MIRT837999	hsa-miR-4799-3p	CLIP-seq
MIRT838000	hsa-miR-485-5p	CLIP-seq
MIRT838001	hsa-miR-493	CLIP-seq
MIRT838002	hsa-miR-497	CLIP-seq
MIRT838003	hsa-miR-503	CLIP-seq
MIRT838004	hsa-miR-532-3p	CLIP-seq
MIRT838005	hsa-miR-541	CLIP-seq
MIRT838006	hsa-miR-646	CLIP-seq
MIRT838007	hsa-miR-650	CLIP-seq
MIRT838008	hsa-miR-654-5p	CLIP-seq
MIRT838009	hsa-miR-665	CLIP-seq
MIRT838010	hsa-miR-762	CLIP-seq
MIRT838011	hsa-miR-92a	CLIP-seq
MIRT838012	hsa-miR-92b	CLIP-seq
MIRT838013	hsa-miR-940	CLIP-seq
MIRT838014	hsa-miR-101	CLIP-seq
MIRT838015	hsa-miR-1205	CLIP-seq
MIRT838016	hsa-miR-125a-5p	CLIP-seq
MIRT838017	hsa-miR-125b	CLIP-seq
MIRT838018	hsa-miR-1269	CLIP-seq
MIRT838019	hsa-miR-1269b	CLIP-seq
MIRT838020	hsa-miR-1286	CLIP-seq
MIRT838021	hsa-miR-1288	CLIP-seq
MIRT838022	hsa-miR-1291	CLIP-seq
MIRT837917	hsa-miR-135a	CLIP-seq
MIRT837918	hsa-miR-135b	CLIP-seq
MIRT838023	hsa-miR-144	CLIP-seq
MIRT837919	hsa-miR-155	CLIP-seq
MIRT837928	hsa-miR-1827	CLIP-seq
MIRT838024	hsa-miR-199a-3p	CLIP-seq
MIRT838025	hsa-miR-199b-3p	CLIP-seq
MIRT838026	hsa-miR-2278	CLIP-seq
MIRT837934	hsa-miR-25	CLIP-seq
MIRT837942	hsa-miR-31	CLIP-seq
MIRT837944	hsa-miR-3122	CLIP-seq
MIRT838027	hsa-miR-3129-5p	CLIP-seq
MIRT838028	hsa-miR-3173-3p	CLIP-seq
MIRT837946	hsa-miR-32	CLIP-seq
MIRT838029	hsa-miR-323-3p	CLIP-seq
MIRT837950	hsa-miR-3591-5p	CLIP-seq
MIRT837951	hsa-miR-3612	CLIP-seq
MIRT837952	hsa-miR-363	CLIP-seq
MIRT837953	hsa-miR-367	CLIP-seq
MIRT837955	hsa-miR-3681	CLIP-seq
MIRT837956	hsa-miR-3689a-3p	CLIP-seq
MIRT837957	hsa-miR-3689c	CLIP-seq
MIRT837961	hsa-miR-3913-5p	CLIP-seq
MIRT837962	hsa-miR-3929	CLIP-seq
MIRT838030	hsa-miR-4310	CLIP-seq
MIRT838031	hsa-miR-4319	CLIP-seq
MIRT838032	hsa-miR-4324	CLIP-seq
MIRT838033	hsa-miR-4327	CLIP-seq
MIRT838034	hsa-miR-4329	CLIP-seq
MIRT837969	hsa-miR-4419b	CLIP-seq
MIRT838035	hsa-miR-4428	CLIP-seq
MIRT837970	hsa-miR-4459	CLIP-seq
MIRT837971	hsa-miR-4460	CLIP-seq
MIRT837974	hsa-miR-4478	CLIP-seq
MIRT838036	hsa-miR-4515	CLIP-seq
MIRT837981	hsa-miR-4649-3p	CLIP-seq
MIRT838037	hsa-miR-4668-3p	CLIP-seq
MIRT838038	hsa-miR-4684-5p	CLIP-seq
MIRT838039	hsa-miR-4694-3p	CLIP-seq
MIRT837986	hsa-miR-4695-5p	CLIP-seq
MIRT838040	hsa-miR-4719	CLIP-seq
MIRT837989	hsa-miR-4722-5p	CLIP-seq
MIRT837990	hsa-miR-4727-3p	CLIP-seq
MIRT837991	hsa-miR-4728-5p	CLIP-seq
MIRT838041	hsa-miR-4740-5p	CLIP-seq
MIRT837997	hsa-miR-4768-3p	CLIP-seq
MIRT838042	hsa-miR-4786-5p	CLIP-seq
MIRT838000	hsa-miR-485-5p	CLIP-seq
MIRT838043	hsa-miR-492	CLIP-seq
MIRT838005	hsa-miR-541	CLIP-seq
MIRT838044	hsa-miR-548c-3p	CLIP-seq
MIRT838045	hsa-miR-582-5p	CLIP-seq
MIRT838046	hsa-miR-592	CLIP-seq
MIRT838047	hsa-miR-597	CLIP-seq
MIRT838007	hsa-miR-650	CLIP-seq
MIRT838008	hsa-miR-654-5p	CLIP-seq
MIRT838009	hsa-miR-665	CLIP-seq
MIRT838048	hsa-miR-769-5p	CLIP-seq
MIRT838011	hsa-miR-92a	CLIP-seq
MIRT838012	hsa-miR-92b	CLIP-seq
MIRT838013	hsa-miR-940	CLIP-seq
MIRT838038	hsa-miR-4684-5p	CLIP-seq
MIRT838044	hsa-miR-548c-3p	CLIP-seq
MIRT1948305	hsa-miR-1228	CLIP-seq
MIRT1948306	hsa-miR-128	CLIP-seq
MIRT1948307	hsa-miR-1324	CLIP-seq
MIRT837917	hsa-miR-135a	CLIP-seq
MIRT837918	hsa-miR-135b	CLIP-seq
MIRT837928	hsa-miR-1827	CLIP-seq
MIRT1948308	hsa-miR-205	CLIP-seq
MIRT1948309	hsa-miR-27a	CLIP-seq
MIRT1948310	hsa-miR-27b	CLIP-seq
MIRT1948311	hsa-miR-3117-5p	CLIP-seq
MIRT1948312	hsa-miR-3160-3p	CLIP-seq
MIRT838029	hsa-miR-323-3p	CLIP-seq
MIRT1948313	hsa-miR-337-3p	CLIP-seq
MIRT837951	hsa-miR-3612	CLIP-seq
MIRT1948314	hsa-miR-3671	CLIP-seq
MIRT1948315	hsa-miR-3685	CLIP-seq
MIRT1948316	hsa-miR-377	CLIP-seq
MIRT1948317	hsa-miR-384	CLIP-seq
MIRT1948318	hsa-miR-3925-3p	CLIP-seq
MIRT837962	hsa-miR-3929	CLIP-seq
MIRT1948319	hsa-miR-3945	CLIP-seq
MIRT1948320	hsa-miR-4253	CLIP-seq
MIRT1948321	hsa-miR-4291	CLIP-seq
MIRT1948322	hsa-miR-4292	CLIP-seq
MIRT1948323	hsa-miR-4308	CLIP-seq
MIRT838030	hsa-miR-4310	CLIP-seq
MIRT838033	hsa-miR-4327	CLIP-seq
MIRT1948324	hsa-miR-4328	CLIP-seq
MIRT837969	hsa-miR-4419b	CLIP-seq
MIRT1948325	hsa-miR-4423-3p	CLIP-seq
MIRT1948326	hsa-miR-4446-5p	CLIP-seq
MIRT837970	hsa-miR-4459	CLIP-seq
MIRT837972	hsa-miR-4464	CLIP-seq
MIRT1948327	hsa-miR-4474-3p	CLIP-seq
MIRT837974	hsa-miR-4478	CLIP-seq
MIRT1948328	hsa-miR-4491	CLIP-seq
MIRT1948329	hsa-miR-4657	CLIP-seq
MIRT837986	hsa-miR-4695-5p	CLIP-seq
MIRT1948330	hsa-miR-4717-3p	CLIP-seq
MIRT1948331	hsa-miR-4738-5p	CLIP-seq
MIRT837995	hsa-miR-4748	CLIP-seq
MIRT1948332	hsa-miR-4755-5p	CLIP-seq
MIRT837996	hsa-miR-4757-5p	CLIP-seq
MIRT1948333	hsa-miR-4788	CLIP-seq
MIRT838000	hsa-miR-485-5p	CLIP-seq
MIRT1948334	hsa-miR-491-3p	CLIP-seq
MIRT1948335	hsa-miR-5096	CLIP-seq
MIRT1948336	hsa-miR-512-5p	CLIP-seq
MIRT1948337	hsa-miR-513a-5p	CLIP-seq
MIRT1948338	hsa-miR-520d-5p	CLIP-seq
MIRT1948339	hsa-miR-524-5p	CLIP-seq
MIRT1948340	hsa-miR-548ac	CLIP-seq
MIRT1948341	hsa-miR-548ae	CLIP-seq
MIRT1948342	hsa-miR-548aj	CLIP-seq
MIRT1948343	hsa-miR-548am	CLIP-seq
MIRT1948344	hsa-miR-548d-3p	CLIP-seq
MIRT1948345	hsa-miR-548x	CLIP-seq
MIRT1948346	hsa-miR-548z	CLIP-seq
MIRT838007	hsa-miR-650	CLIP-seq
MIRT1948347	hsa-miR-656	CLIP-seq
MIRT838009	hsa-miR-665	CLIP-seq
MIRT1948348	hsa-miR-766	CLIP-seq
MIRT1948349	hsa-miR-875-5p	CLIP-seq
MIRT1948350	hsa-miR-885-5p	CLIP-seq
MIRT1948351	hsa-miR-935	CLIP-seq
MIRT1948352	hsa-miR-943	CLIP-seq
MIRT838014	hsa-miR-101	CLIP-seq
MIRT1948305	hsa-miR-1228	CLIP-seq
MIRT2186329	hsa-miR-1253	CLIP-seq
MIRT2186330	hsa-miR-1271	CLIP-seq
MIRT2186331	hsa-miR-1273	CLIP-seq
MIRT1948306	hsa-miR-128	CLIP-seq
MIRT837916	hsa-miR-1297	CLIP-seq
MIRT837917	hsa-miR-135a	CLIP-seq
MIRT837918	hsa-miR-135b	CLIP-seq
MIRT2186332	hsa-miR-140-3p	CLIP-seq
MIRT837924	hsa-miR-181a	CLIP-seq
MIRT837925	hsa-miR-181b	CLIP-seq
MIRT837926	hsa-miR-181c	CLIP-seq
MIRT837927	hsa-miR-181d	CLIP-seq
MIRT2186333	hsa-miR-182	CLIP-seq
MIRT837928	hsa-miR-1827	CLIP-seq
MIRT837930	hsa-miR-2054	CLIP-seq
MIRT2186334	hsa-miR-2114	CLIP-seq
MIRT2186335	hsa-miR-217	CLIP-seq
MIRT837931	hsa-miR-23a	CLIP-seq
MIRT837932	hsa-miR-23b	CLIP-seq
MIRT837933	hsa-miR-23c	CLIP-seq
MIRT2186336	hsa-miR-24	CLIP-seq
MIRT837935	hsa-miR-26a	CLIP-seq
MIRT837936	hsa-miR-26b	CLIP-seq
MIRT2186337	hsa-miR-28-5p	CLIP-seq
MIRT837937	hsa-miR-30a	CLIP-seq
MIRT837938	hsa-miR-30b	CLIP-seq
MIRT837939	hsa-miR-30c	CLIP-seq
MIRT837940	hsa-miR-30d	CLIP-seq
MIRT837941	hsa-miR-30e	CLIP-seq
MIRT1948311	hsa-miR-3117-5p	CLIP-seq
MIRT837944	hsa-miR-3122	CLIP-seq
MIRT2186338	hsa-miR-3132	CLIP-seq
MIRT2186339	hsa-miR-3139	CLIP-seq
MIRT1948312	hsa-miR-3160-3p	CLIP-seq
MIRT838028	hsa-miR-3173-3p	CLIP-seq
MIRT2186340	hsa-miR-3191	CLIP-seq
MIRT838029	hsa-miR-323-3p	CLIP-seq
MIRT837951	hsa-miR-3612	CLIP-seq
MIRT2186341	hsa-miR-3622a-3p	CLIP-seq
MIRT2186342	hsa-miR-3622b-3p	CLIP-seq
MIRT837956	hsa-miR-3689a-3p	CLIP-seq
MIRT837957	hsa-miR-3689c	CLIP-seq
MIRT2186343	hsa-miR-374c	CLIP-seq
MIRT1948316	hsa-miR-377	CLIP-seq
MIRT837961	hsa-miR-3913-5p	CLIP-seq
MIRT2186344	hsa-miR-3923	CLIP-seq
MIRT1948318	hsa-miR-3925-3p	CLIP-seq
MIRT837962	hsa-miR-3929	CLIP-seq
MIRT2186345	hsa-miR-3940-3p	CLIP-seq
MIRT2186346	hsa-miR-4251	CLIP-seq
MIRT837964	hsa-miR-4262	CLIP-seq
MIRT837965	hsa-miR-4266	CLIP-seq
MIRT837966	hsa-miR-4269	CLIP-seq
MIRT2186347	hsa-miR-4284	CLIP-seq
MIRT1948322	hsa-miR-4292	CLIP-seq
MIRT1948323	hsa-miR-4308	CLIP-seq
MIRT837968	hsa-miR-4325	CLIP-seq
MIRT2186348	hsa-miR-4418	CLIP-seq
MIRT837969	hsa-miR-4419b	CLIP-seq
MIRT838035	hsa-miR-4428	CLIP-seq
MIRT2186349	hsa-miR-4438	CLIP-seq
MIRT2186350	hsa-miR-4446-3p	CLIP-seq
MIRT837970	hsa-miR-4459	CLIP-seq
MIRT837973	hsa-miR-4465	CLIP-seq
MIRT837974	hsa-miR-4478	CLIP-seq
MIRT837977	hsa-miR-4514	CLIP-seq
MIRT2186351	hsa-miR-4633-5p	CLIP-seq
MIRT837980	hsa-miR-4642	CLIP-seq
MIRT837981	hsa-miR-4649-3p	CLIP-seq
MIRT837985	hsa-miR-4692	CLIP-seq
MIRT837986	hsa-miR-4695-5p	CLIP-seq
MIRT837987	hsa-miR-4711-5p	CLIP-seq
MIRT2186352	hsa-miR-4721	CLIP-seq
MIRT837989	hsa-miR-4722-5p	CLIP-seq
MIRT837991	hsa-miR-4728-5p	CLIP-seq
MIRT837992	hsa-miR-4729	CLIP-seq
MIRT1948331	hsa-miR-4738-5p	CLIP-seq
MIRT837994	hsa-miR-4742-5p	CLIP-seq
MIRT837996	hsa-miR-4757-5p	CLIP-seq
MIRT837997	hsa-miR-4768-3p	CLIP-seq
MIRT2186353	hsa-miR-4777-3p	CLIP-seq
MIRT837998	hsa-miR-4779	CLIP-seq
MIRT2186354	hsa-miR-4793-3p	CLIP-seq
MIRT2186355	hsa-miR-4797-3p	CLIP-seq
MIRT838000	hsa-miR-485-5p	CLIP-seq
MIRT1948334	hsa-miR-491-3p	CLIP-seq
MIRT838003	hsa-miR-503	CLIP-seq
MIRT2186356	hsa-miR-508-5p	CLIP-seq
MIRT2186357	hsa-miR-509-3-5p	CLIP-seq
MIRT2186358	hsa-miR-5095	CLIP-seq
MIRT2186359	hsa-miR-509-5p	CLIP-seq
MIRT2186360	hsa-miR-532-5p	CLIP-seq
MIRT838005	hsa-miR-541	CLIP-seq
MIRT2186361	hsa-miR-570	CLIP-seq
MIRT2186362	hsa-miR-628-3p	CLIP-seq
MIRT838007	hsa-miR-650	CLIP-seq
MIRT838008	hsa-miR-654-5p	CLIP-seq
MIRT2186363	hsa-miR-655	CLIP-seq
MIRT1948347	hsa-miR-656	CLIP-seq
MIRT838009	hsa-miR-665	CLIP-seq
MIRT2186364	hsa-miR-708	CLIP-seq
MIRT1948348	hsa-miR-766	CLIP-seq
MIRT2186365	hsa-miR-767-5p	CLIP-seq
MIRT1948349	hsa-miR-875-5p	CLIP-seq
MIRT1948350	hsa-miR-885-5p	CLIP-seq
MIRT838013	hsa-miR-940	CLIP-seq
MIRT2186366	hsa-miR-96	CLIP-seq
MIRT838029	hsa-miR-323-3p	CLIP-seq
MIRT1948313	hsa-miR-337-3p	CLIP-seq
MIRT1948314	hsa-miR-3671	CLIP-seq
MIRT1948315	hsa-miR-3685	CLIP-seq
MIRT2186343	hsa-miR-374c	CLIP-seq
MIRT1948317	hsa-miR-384	CLIP-seq
MIRT2186344	hsa-miR-3923	CLIP-seq
MIRT1948331	hsa-miR-4738-5p	CLIP-seq
MIRT2186362	hsa-miR-628-3p	CLIP-seq
MIRT2186363	hsa-miR-655	CLIP-seq
MIRT1948348	hsa-miR-766	CLIP-seq
MIRT837944	hsa-miR-3122	CLIP-seq
MIRT2445260	hsa-miR-3646	CLIP-seq
MIRT837956	hsa-miR-3689a-3p	CLIP-seq
MIRT837957	hsa-miR-3689c	CLIP-seq
MIRT837961	hsa-miR-3913-5p	CLIP-seq
MIRT2445261	hsa-miR-3919	CLIP-seq
MIRT837962	hsa-miR-3929	CLIP-seq
MIRT2445262	hsa-miR-3942-3p	CLIP-seq
MIRT1948324	hsa-miR-4328	CLIP-seq
MIRT837969	hsa-miR-4419b	CLIP-seq
MIRT837974	hsa-miR-4478	CLIP-seq
MIRT837991	hsa-miR-4728-5p	CLIP-seq
MIRT2445263	hsa-miR-4756-3p	CLIP-seq
MIRT838000	hsa-miR-485-5p	CLIP-seq
MIRT838005	hsa-miR-541	CLIP-seq
MIRT838008	hsa-miR-654-5p	CLIP-seq
MIRT2490481	hsa-miR-1178	CLIP-seq
MIRT2186329	hsa-miR-1253	CLIP-seq
MIRT2490482	hsa-miR-1270	CLIP-seq
MIRT2490483	hsa-miR-1915	CLIP-seq
MIRT2490484	hsa-miR-2355-5p	CLIP-seq
MIRT1948311	hsa-miR-3117-5p	CLIP-seq
MIRT837944	hsa-miR-3122	CLIP-seq
MIRT2490485	hsa-miR-3144-3p	CLIP-seq
MIRT838028	hsa-miR-3173-3p	CLIP-seq
MIRT838029	hsa-miR-323-3p	CLIP-seq
MIRT837949	hsa-miR-338-5p	CLIP-seq
MIRT2490486	hsa-miR-3613-3p	CLIP-seq
MIRT2490487	hsa-miR-3672	CLIP-seq
MIRT2490488	hsa-miR-3682-3p	CLIP-seq
MIRT837956	hsa-miR-3689a-3p	CLIP-seq
MIRT837957	hsa-miR-3689c	CLIP-seq
MIRT2490489	hsa-miR-371-5p	CLIP-seq
MIRT2490490	hsa-miR-371b-5p	CLIP-seq
MIRT2186343	hsa-miR-374c	CLIP-seq
MIRT2490491	hsa-miR-378g	CLIP-seq
MIRT837961	hsa-miR-3913-5p	CLIP-seq
MIRT2186344	hsa-miR-3923	CLIP-seq
MIRT1948318	hsa-miR-3925-3p	CLIP-seq
MIRT837962	hsa-miR-3929	CLIP-seq
MIRT837969	hsa-miR-4419b	CLIP-seq
MIRT838035	hsa-miR-4428	CLIP-seq
MIRT2490492	hsa-miR-4461	CLIP-seq
MIRT837974	hsa-miR-4478	CLIP-seq
MIRT1948328	hsa-miR-4491	CLIP-seq
MIRT2490493	hsa-miR-4502	CLIP-seq
MIRT2490494	hsa-miR-4511	CLIP-seq
MIRT2490495	hsa-miR-4652-3p	CLIP-seq
MIRT1948329	hsa-miR-4657	CLIP-seq
MIRT2490496	hsa-miR-4683	CLIP-seq
MIRT838038	hsa-miR-4684-5p	CLIP-seq
MIRT837991	hsa-miR-4728-5p	CLIP-seq
MIRT1948331	hsa-miR-4738-5p	CLIP-seq
MIRT837996	hsa-miR-4757-5p	CLIP-seq
MIRT838042	hsa-miR-4786-5p	CLIP-seq
MIRT2490497	hsa-miR-4793-5p	CLIP-seq
MIRT2490498	hsa-miR-4794	CLIP-seq
MIRT838000	hsa-miR-485-5p	CLIP-seq
MIRT2490499	hsa-miR-486-5p	CLIP-seq
MIRT838005	hsa-miR-541	CLIP-seq
MIRT838044	hsa-miR-548c-3p	CLIP-seq
MIRT2490500	hsa-miR-579	CLIP-seq
MIRT2490501	hsa-miR-580	CLIP-seq
MIRT838046	hsa-miR-592	CLIP-seq
MIRT838047	hsa-miR-597	CLIP-seq
MIRT2490502	hsa-miR-620	CLIP-seq
MIRT2186362	hsa-miR-628-3p	CLIP-seq
MIRT838008	hsa-miR-654-5p	CLIP-seq
MIRT2186363	hsa-miR-655	CLIP-seq
MIRT1948348	hsa-miR-766	CLIP-seq
MIRT2186365	hsa-miR-767-5p	CLIP-seq
MIRT838048	hsa-miR-769-5p	CLIP-seq
MIRT1948349	hsa-miR-875-5p	CLIP-seq
MIRT1948311	hsa-miR-3117-5p	CLIP-seq
MIRT837944	hsa-miR-3122	CLIP-seq
MIRT838028	hsa-miR-3173-3p	CLIP-seq
MIRT838029	hsa-miR-323-3p	CLIP-seq
MIRT2490486	hsa-miR-3613-3p	CLIP-seq
MIRT2490488	hsa-miR-3682-3p	CLIP-seq
MIRT837956	hsa-miR-3689a-3p	CLIP-seq
MIRT837957	hsa-miR-3689c	CLIP-seq
MIRT2490489	hsa-miR-371-5p	CLIP-seq
MIRT2490490	hsa-miR-371b-5p	CLIP-seq
MIRT2186343	hsa-miR-374c	CLIP-seq
MIRT837961	hsa-miR-3913-5p	CLIP-seq
MIRT2186344	hsa-miR-3923	CLIP-seq
MIRT1948318	hsa-miR-3925-3p	CLIP-seq
MIRT837962	hsa-miR-3929	CLIP-seq
MIRT837969	hsa-miR-4419b	CLIP-seq
MIRT838035	hsa-miR-4428	CLIP-seq
MIRT837974	hsa-miR-4478	CLIP-seq
MIRT2490493	hsa-miR-4502	CLIP-seq
MIRT838038	hsa-miR-4684-5p	CLIP-seq
MIRT837991	hsa-miR-4728-5p	CLIP-seq
MIRT1948331	hsa-miR-4738-5p	CLIP-seq
MIRT837996	hsa-miR-4757-5p	CLIP-seq
MIRT838042	hsa-miR-4786-5p	CLIP-seq
MIRT2490497	hsa-miR-4793-5p	CLIP-seq
MIRT2490498	hsa-miR-4794	CLIP-seq
MIRT838000	hsa-miR-485-5p	CLIP-seq
MIRT838005	hsa-miR-541	CLIP-seq
MIRT838044	hsa-miR-548c-3p	CLIP-seq
MIRT2186362	hsa-miR-628-3p	CLIP-seq
MIRT838008	hsa-miR-654-5p	CLIP-seq
MIRT2186363	hsa-miR-655	CLIP-seq
MIRT1948348	hsa-miR-766	CLIP-seq
MIRT838048	hsa-miR-769-5p	CLIP-seq

Show/Hide all(9)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005739	Component	Mitochondrion	IDA	23857908, 26136767
GO:0005783	Component	Endoplasmic reticulum	IDA	23857908, 26136767
GO:0005829	Component	Cytosol	IDA
GO:0006914	Process	Autophagy	IMP	26136767
GO:0006915	Process	Apoptotic process	IMP	26136767
GO:0006979	Process	Response to oxidative stress	IMP	26136767
GO:0016021	Component	Integral component of membrane	IEA
GO:0031966	Component	Mitochondrial membrane	IDA	26136767
GO:0051560	Process	Mitochondrial calcium ion homeostasis	IMP	26136767

MIM	HGNC	e!Ensembl
614297	25443	ENSG00000131943

Protein

UniProt ID

Q9NSK7

Protein name

Protein C19orf12

Family and domains

Sequence

MERLKSHKPATMTIMVEDIMKLLCSLSGERKMKAAVKHSGKGALVTGAMAFVGGLVGGPP
GLAVGGAVGGLLGAWMTSGQFKPVPQILMELPPAEQQRLFNEAAAIIRHLEWTDAVQLTA
LVMGSEALQQQLLAMLVNYVTKELRAEIQYDD

Sequence length

152

Interactions

View interactions

Show/Hide Causal Diseases (6)

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)
Neurodegeneration with brain iron accumulation	NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 4	rs121918227, rs587784343, rs121908683, rs121908686, rs515726204, rs397514477, rs515726205, rs387907173, rs387907328, rs387907329, rs387907330, rs387907331, rs387907332, rs386134127, rs386134147 View all (76 more)	23269600, 21981780, 22704260, 22584950, 23857908, 27604308, 23278385, 26187298, 20039086, 25592411, 22508347, 24209434, 23166001, 23436634, 26539891 View all (4 more)
Optic atrophy	Optic Atrophy	rs121434508, rs267607017, rs80356524, rs80356525, rs879255560, rs104893753, rs80356529, rs397515360, rs104893620, rs199476104, rs199476112, rs199476118, rs398124298, rs770066665, rs398124299 View all (37 more)
Ovarian cancer	Malignant neoplasm of ovary	rs34424986, rs137853060, rs28934575, rs79658334, rs121913021, rs62625308, rs80356898, rs80357579, rs41293497, rs80356904, rs80357471, rs80357522, rs80357234, rs80357912, rs80357828 View all (31 more)	21397856
Parkinson disease	Parkinsonian Disorders	rs33939927, rs35801418, rs34805604, rs35870237, rs34995376, rs74315355, rs28940284, rs74315356, rs74315357, rs28940285, rs730880302, rs750664040, rs74315359, rs74315360, rs45539432 View all (84 more)
Spastic paraplegia	Spastic Paraplegia, Spastic Paraplegia, Hereditary, SPASTIC PARAPLEGIA 43, AUTOSOMAL RECESSIVE, Autosomal recessive spastic paraplegia type 43	rs118204049, rs121918262, rs104894490, rs119476046, rs281865117, rs281865118, rs137853017, rs72554620, rs121908610, rs121908611, rs121908613, rs116171274, rs121434442, rs121434443, rs137852520 View all (368 more)	28832565, 20039086, 26187298, 23269600, 23857908, 26539891, 21981780, 23494994, 22584950

Show/Hide Unknown Diseases (5)

Disease term	Disease name	Evidence	Source
Unknown
Distal amyotrophy	Distal amyotrophy		ClinVar
Mental depression	Depressive disorder		ClinVar
Spastic Paraplegia	hereditary spastic paraplegia 43		GenCC
Breast Cancer	Breast Cancer	Importantly, breast cancer patients bearing PRC2 LOF mutations displayed significantly worse prognosis compared with PRC2 wild-type patients	GWAS, CBGDA
Metabolic Syndrome	Metabolic Syndrome		GWAS

Show/Hide Text Mining Associations (20)

Disease Name	Relationship Type	References
Associations from Text Mining
Breast Neoplasms	Associate	22433433
Cerebellar Diseases	Associate	24361204
Dystonia	Associate	35041927
Immune System Diseases	Associate	35509008
Iron Deficiencies	Associate	24361204
Iron Overload	Associate	35182730
Lewy Body Disease	Associate	23269600
Muscle Weakness	Associate	34022688
Neuroaxonal Dystrophies	Associate	34022688
Neurodegenerative Diseases	Associate	23269600, 23857908, 33068888, 34022688
Neuroferritinopathy	Associate	23269600, 23857908, 33068888, 34022688, 35180557
Optic Atrophy	Associate	34022688
Optic Nerve Diseases	Associate	34022688
Pallidopyramidal syndrome	Associate	24361204
Pantothenate Kinase Associated Neurodegeneration	Associate	21981780, 23269600, 23857908, 28821231, 31744972, 33068888, 39419454, 39489009
Parkinson Disease	Associate	21981780
Peripheral Nervous System Diseases	Associate	34022688
Sleep Deprivation	Associate	35182730
Spastic Paraplegia Hereditary	Associate	23857908
Spondylitis Ankylosing	Associate	35509008

C19orf12 (chromosome 19 open reading frame 12)