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

Gene Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	10133
Gene name Gene Name - the full gene name approved by the HGNC.	Optineurin
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	OPTN
Synonyms (NCBI Gene) Gene synonyms aliases	ALS12, FIP2, GLC1E, HIP7, HYPL, NRP, TFIIIA-INTP
Chromosome Chromosome number	10
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	10p13
Summary Summary of gene provided in NCBI Entrez Gene.	This gene encodes the coiled-coil containing protein optineurin. Optineurin may play a role in normal-tension glaucoma and adult-onset primary open angle glaucoma. Optineurin interacts with adenovirus E3-14.7K protein and may utilize tumor necrosis factor

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SNP ID	Visualize variation	Clinical significance	Consequence
rs11258194	T>A	Pathogenic, benign-likely-benign, risk-factor, benign	Missense variant, coding sequence variant
rs28939688	G>A	Pathogenic	Missense variant, coding sequence variant
rs75654767	G>A	Pathogenic, benign, likely-benign, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs140599944	G>A,T	Uncertain-significance, likely-pathogenic	Stop gained, missense variant, coding sequence variant
rs142812715	A>T	Pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs267606928	C>G,T	Pathogenic	Coding sequence variant, stop gained, missense variant
rs267606929	A>G	Pathogenic	Coding sequence variant, missense variant
rs747481280	T>G	Likely-pathogenic	Coding sequence variant, missense variant
rs774258585	->AG	Pathogenic	Coding sequence variant, frameshift variant
rs786205611	GACAT>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs867368757	A>G	Likely-pathogenic	Splice acceptor variant
rs895824243	A>C	Likely-pathogenic	Missense variant, coding sequence variant
rs934287314	C>T	Likely-pathogenic, uncertain-significance	Coding sequence variant, stop gained
rs1564354968	->AGCT	Pathogenic	Frameshift variant, coding sequence variant
rs1588449569	->A	Likely-pathogenic	Frameshift variant, coding sequence variant

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miRTarBase ID	miRNA	Experiments	Reference
MIRT019128	hsa-miR-335-5p	Microarray	18185580
MIRT021455	hsa-miR-9-5p	Microarray	17612493
MIRT050845	hsa-miR-17-5p	CLASH	23622248
MIRT050771	hsa-miR-17-3p	CLASH	23622248
MIRT049818	hsa-miR-92a-3p	CLASH	23622248
MIRT625704	hsa-miR-500b-3p	HITS-CLIP	23824327
MIRT625703	hsa-miR-2276-5p	HITS-CLIP	23824327
MIRT625702	hsa-miR-6741-3p	HITS-CLIP	23824327
MIRT625701	hsa-miR-1307-3p	HITS-CLIP	23824327
MIRT625700	hsa-miR-4638-5p	HITS-CLIP	23824327
MIRT625699	hsa-miR-6773-3p	HITS-CLIP	23824327
MIRT625698	hsa-miR-215-3p	HITS-CLIP	23824327
MIRT625697	hsa-miR-6499-3p	HITS-CLIP	23824327
MIRT625696	hsa-miR-3135b	HITS-CLIP	23824327
MIRT625695	hsa-miR-504-3p	HITS-CLIP	23824327
MIRT625694	hsa-miR-122-5p	HITS-CLIP	23824327
MIRT625693	hsa-miR-3652	HITS-CLIP	23824327
MIRT625692	hsa-miR-4430	HITS-CLIP	23824327
MIRT625691	hsa-miR-6879-3p	HITS-CLIP	23824327
MIRT625690	hsa-miR-143-5p	HITS-CLIP	23824327
MIRT625689	hsa-miR-5698	HITS-CLIP	23824327
MIRT639301	hsa-miR-6734-3p	HITS-CLIP	23824327
MIRT639300	hsa-miR-3667-3p	HITS-CLIP	23824327
MIRT639299	hsa-miR-1237-3p	HITS-CLIP	23824327
MIRT639298	hsa-miR-1248	HITS-CLIP	23824327
MIRT639297	hsa-miR-6868-3p	HITS-CLIP	23824327
MIRT639296	hsa-miR-4279	HITS-CLIP	23824327
MIRT625704	hsa-miR-500b-3p	HITS-CLIP	23824327
MIRT625703	hsa-miR-2276-5p	HITS-CLIP	23824327
MIRT625701	hsa-miR-1307-3p	HITS-CLIP	23824327
MIRT625700	hsa-miR-4638-5p	HITS-CLIP	23824327
MIRT625699	hsa-miR-6773-3p	HITS-CLIP	23824327
MIRT625698	hsa-miR-215-3p	HITS-CLIP	23824327
MIRT625697	hsa-miR-6499-3p	HITS-CLIP	23824327
MIRT625696	hsa-miR-3135b	HITS-CLIP	23824327
MIRT625695	hsa-miR-504-3p	HITS-CLIP	23824327
MIRT625694	hsa-miR-122-5p	HITS-CLIP	23824327
MIRT625693	hsa-miR-3652	HITS-CLIP	23824327
MIRT625692	hsa-miR-4430	HITS-CLIP	23824327
MIRT625691	hsa-miR-6879-3p	HITS-CLIP	23824327
MIRT625690	hsa-miR-143-5p	HITS-CLIP	23824327
MIRT625689	hsa-miR-5698	HITS-CLIP	23824327
MIRT625704	hsa-miR-500b-3p	HITS-CLIP	23824327
MIRT625703	hsa-miR-2276-5p	HITS-CLIP	23824327
MIRT625702	hsa-miR-6741-3p	HITS-CLIP	23824327
MIRT625701	hsa-miR-1307-3p	HITS-CLIP	23824327
MIRT625700	hsa-miR-4638-5p	HITS-CLIP	23824327
MIRT625699	hsa-miR-6773-3p	HITS-CLIP	23824327
MIRT625698	hsa-miR-215-3p	HITS-CLIP	23824327
MIRT625697	hsa-miR-6499-3p	HITS-CLIP	23824327
MIRT625696	hsa-miR-3135b	HITS-CLIP	23824327
MIRT625695	hsa-miR-504-3p	HITS-CLIP	23824327
MIRT625694	hsa-miR-122-5p	HITS-CLIP	23824327
MIRT625693	hsa-miR-3652	HITS-CLIP	23824327
MIRT625692	hsa-miR-4430	HITS-CLIP	23824327
MIRT625691	hsa-miR-6879-3p	HITS-CLIP	23824327
MIRT625690	hsa-miR-143-5p	HITS-CLIP	23824327
MIRT625689	hsa-miR-5698	HITS-CLIP	23824327
MIRT625704	hsa-miR-500b-3p	HITS-CLIP	23824327
MIRT625703	hsa-miR-2276-5p	HITS-CLIP	23824327
MIRT625702	hsa-miR-6741-3p	HITS-CLIP	23824327
MIRT625701	hsa-miR-1307-3p	HITS-CLIP	23824327
MIRT625700	hsa-miR-4638-5p	HITS-CLIP	23824327
MIRT625699	hsa-miR-6773-3p	HITS-CLIP	23824327
MIRT625698	hsa-miR-215-3p	HITS-CLIP	23824327
MIRT625697	hsa-miR-6499-3p	HITS-CLIP	23824327
MIRT625696	hsa-miR-3135b	HITS-CLIP	23824327
MIRT625695	hsa-miR-504-3p	HITS-CLIP	23824327
MIRT625694	hsa-miR-122-5p	HITS-CLIP	23824327
MIRT625693	hsa-miR-3652	HITS-CLIP	23824327
MIRT625692	hsa-miR-4430	HITS-CLIP	23824327
MIRT625691	hsa-miR-6879-3p	HITS-CLIP	23824327
MIRT625690	hsa-miR-143-5p	HITS-CLIP	23824327
MIRT625689	hsa-miR-5698	HITS-CLIP	23824327
MIRT639301	hsa-miR-6734-3p	HITS-CLIP	23824327
MIRT639300	hsa-miR-3667-3p	HITS-CLIP	23824327
MIRT639299	hsa-miR-1237-3p	HITS-CLIP	23824327
MIRT639298	hsa-miR-1248	HITS-CLIP	23824327
MIRT639297	hsa-miR-6868-3p	HITS-CLIP	23824327
MIRT639296	hsa-miR-4279	HITS-CLIP	23824327
MIRT625704	hsa-miR-500b-3p	HITS-CLIP	23824327
MIRT625703	hsa-miR-2276-5p	HITS-CLIP	23824327
MIRT625701	hsa-miR-1307-3p	HITS-CLIP	23824327
MIRT625700	hsa-miR-4638-5p	HITS-CLIP	23824327
MIRT625699	hsa-miR-6773-3p	HITS-CLIP	23824327
MIRT625698	hsa-miR-215-3p	HITS-CLIP	23824327
MIRT625697	hsa-miR-6499-3p	HITS-CLIP	23824327
MIRT625696	hsa-miR-3135b	HITS-CLIP	23824327
MIRT625695	hsa-miR-504-3p	HITS-CLIP	23824327
MIRT625694	hsa-miR-122-5p	HITS-CLIP	23824327
MIRT625693	hsa-miR-3652	HITS-CLIP	23824327
MIRT625692	hsa-miR-4430	HITS-CLIP	23824327
MIRT625691	hsa-miR-6879-3p	HITS-CLIP	23824327
MIRT625690	hsa-miR-143-5p	HITS-CLIP	23824327
MIRT625689	hsa-miR-5698	HITS-CLIP	23824327
MIRT625704	hsa-miR-500b-3p	HITS-CLIP	23824327
MIRT625703	hsa-miR-2276-5p	HITS-CLIP	23824327
MIRT625702	hsa-miR-6741-3p	HITS-CLIP	23824327
MIRT625701	hsa-miR-1307-3p	HITS-CLIP	23824327
MIRT625700	hsa-miR-4638-5p	HITS-CLIP	23824327
MIRT625699	hsa-miR-6773-3p	HITS-CLIP	23824327
MIRT625698	hsa-miR-215-3p	HITS-CLIP	23824327
MIRT625697	hsa-miR-6499-3p	HITS-CLIP	23824327
MIRT625696	hsa-miR-3135b	HITS-CLIP	23824327
MIRT625695	hsa-miR-504-3p	HITS-CLIP	23824327
MIRT625694	hsa-miR-122-5p	HITS-CLIP	23824327
MIRT625693	hsa-miR-3652	HITS-CLIP	23824327
MIRT625692	hsa-miR-4430	HITS-CLIP	23824327
MIRT625691	hsa-miR-6879-3p	HITS-CLIP	23824327
MIRT625690	hsa-miR-143-5p	HITS-CLIP	23824327
MIRT625689	hsa-miR-5698	HITS-CLIP	23824327
MIRT1204539	hsa-miR-1257	CLIP-seq
MIRT1204540	hsa-miR-1294	CLIP-seq
MIRT1204541	hsa-miR-186	CLIP-seq
MIRT1204542	hsa-miR-3133	CLIP-seq
MIRT1204543	hsa-miR-4506	CLIP-seq
MIRT1204544	hsa-miR-4659a-3p	CLIP-seq
MIRT1204545	hsa-miR-4659b-3p	CLIP-seq
MIRT1204546	hsa-miR-4735-5p	CLIP-seq
MIRT1204547	hsa-miR-4790-3p	CLIP-seq
MIRT1204548	hsa-miR-555	CLIP-seq
MIRT1204549	hsa-miR-1183	CLIP-seq
MIRT1204550	hsa-miR-1224-3p	CLIP-seq
MIRT1204551	hsa-miR-1234	CLIP-seq
MIRT1204552	hsa-miR-1245	CLIP-seq
MIRT1204553	hsa-miR-3185	CLIP-seq
MIRT1204554	hsa-miR-3646	CLIP-seq
MIRT1204555	hsa-miR-4252	CLIP-seq
MIRT1204556	hsa-miR-4438	CLIP-seq
MIRT1204557	hsa-miR-4786-3p	CLIP-seq
MIRT1204558	hsa-miR-5095	CLIP-seq
MIRT1204559	hsa-miR-640	CLIP-seq
MIRT1204560	hsa-miR-944	CLIP-seq
MIRT1551951	hsa-miR-1301	CLIP-seq
MIRT1551952	hsa-miR-148a	CLIP-seq
MIRT1551953	hsa-miR-148b	CLIP-seq
MIRT1551954	hsa-miR-152	CLIP-seq
MIRT1551955	hsa-miR-3944-5p	CLIP-seq
MIRT1551956	hsa-miR-4519	CLIP-seq
MIRT1551957	hsa-miR-4660	CLIP-seq
MIRT1551958	hsa-miR-5047	CLIP-seq
MIRT1922891	hsa-miR-122	CLIP-seq
MIRT1922892	hsa-miR-1307	CLIP-seq
MIRT1922891	hsa-miR-122	CLIP-seq
MIRT1204551	hsa-miR-1234	CLIP-seq
MIRT1922892	hsa-miR-1307	CLIP-seq
MIRT2059007	hsa-miR-4284	CLIP-seq
MIRT2059008	hsa-miR-4287	CLIP-seq
MIRT1204556	hsa-miR-4438	CLIP-seq
MIRT2059009	hsa-miR-4469	CLIP-seq
MIRT2059010	hsa-miR-4685-3p	CLIP-seq
MIRT1204546	hsa-miR-4735-5p	CLIP-seq
MIRT2059011	hsa-miR-4797-5p	CLIP-seq
MIRT1204558	hsa-miR-5095	CLIP-seq
MIRT2059012	hsa-miR-642a	CLIP-seq
MIRT1922891	hsa-miR-122	CLIP-seq
MIRT1204551	hsa-miR-1234	CLIP-seq
MIRT2287141	hsa-miR-3613-3p	CLIP-seq
MIRT2287142	hsa-miR-3977	CLIP-seq
MIRT1204555	hsa-miR-4252	CLIP-seq
MIRT2287143	hsa-miR-4318	CLIP-seq
MIRT1204556	hsa-miR-4438	CLIP-seq
MIRT1204544	hsa-miR-4659a-3p	CLIP-seq
MIRT1204545	hsa-miR-4659b-3p	CLIP-seq
MIRT2287144	hsa-miR-4693-5p	CLIP-seq
MIRT2287145	hsa-miR-4731-5p	CLIP-seq
MIRT1204558	hsa-miR-5095	CLIP-seq
MIRT2287146	hsa-miR-512-3p	CLIP-seq
MIRT2287147	hsa-miR-892a	CLIP-seq
MIRT2287148	hsa-miR-942	CLIP-seq
MIRT2391914	hsa-miR-1237	CLIP-seq
MIRT1204544	hsa-miR-4659a-3p	CLIP-seq
MIRT1204545	hsa-miR-4659b-3p	CLIP-seq
MIRT2287148	hsa-miR-942	CLIP-seq
MIRT1922891	hsa-miR-122	CLIP-seq
MIRT2059008	hsa-miR-4287	CLIP-seq
MIRT2059009	hsa-miR-4469	CLIP-seq
MIRT2059010	hsa-miR-4685-3p	CLIP-seq
MIRT2059011	hsa-miR-4797-5p	CLIP-seq
MIRT2059012	hsa-miR-642a	CLIP-seq
MIRT2585311	hsa-miR-106a	CLIP-seq
MIRT2585312	hsa-miR-106b	CLIP-seq
MIRT1922891	hsa-miR-122	CLIP-seq
MIRT1204551	hsa-miR-1234	CLIP-seq
MIRT2585313	hsa-miR-1272	CLIP-seq
MIRT1551951	hsa-miR-1301	CLIP-seq
MIRT1922892	hsa-miR-1307	CLIP-seq
MIRT2585314	hsa-miR-1322	CLIP-seq
MIRT2585315	hsa-miR-1343	CLIP-seq
MIRT1551952	hsa-miR-148a	CLIP-seq
MIRT1551953	hsa-miR-148b	CLIP-seq
MIRT2585316	hsa-miR-150	CLIP-seq
MIRT1551954	hsa-miR-152	CLIP-seq
MIRT2585317	hsa-miR-17	CLIP-seq
MIRT2585318	hsa-miR-1976	CLIP-seq
MIRT2585319	hsa-miR-2054	CLIP-seq
MIRT2585320	hsa-miR-20a	CLIP-seq
MIRT2585321	hsa-miR-20b	CLIP-seq
MIRT2585322	hsa-miR-2110	CLIP-seq
MIRT2585323	hsa-miR-217	CLIP-seq
MIRT2585324	hsa-miR-219-1-3p	CLIP-seq
MIRT2585325	hsa-miR-22	CLIP-seq
MIRT2585326	hsa-miR-302a	CLIP-seq
MIRT2585327	hsa-miR-302b	CLIP-seq
MIRT2585328	hsa-miR-302c	CLIP-seq
MIRT2585329	hsa-miR-302d	CLIP-seq
MIRT2585330	hsa-miR-302e	CLIP-seq
MIRT2585331	hsa-miR-3129-3p	CLIP-seq
MIRT2585332	hsa-miR-3134	CLIP-seq
MIRT2585333	hsa-miR-3145-3p	CLIP-seq
MIRT2585334	hsa-miR-3146	CLIP-seq
MIRT2585335	hsa-miR-3150a-3p	CLIP-seq
MIRT2585336	hsa-miR-3150a-5p	CLIP-seq
MIRT2585337	hsa-miR-3150b-5p	CLIP-seq
MIRT2585338	hsa-miR-3162-3p	CLIP-seq
MIRT2585339	hsa-miR-3175	CLIP-seq
MIRT2585340	hsa-miR-3187-3p	CLIP-seq
MIRT2585341	hsa-miR-3529	CLIP-seq
MIRT2585342	hsa-miR-361-5p	CLIP-seq
MIRT1204554	hsa-miR-3646	CLIP-seq
MIRT2585343	hsa-miR-3663-5p	CLIP-seq
MIRT2585344	hsa-miR-3682-3p	CLIP-seq
MIRT2585345	hsa-miR-3689d	CLIP-seq
MIRT2585346	hsa-miR-371-5p	CLIP-seq
MIRT2585347	hsa-miR-371b-5p	CLIP-seq
MIRT2585348	hsa-miR-372	CLIP-seq
MIRT2585349	hsa-miR-373	CLIP-seq
MIRT2585350	hsa-miR-374c	CLIP-seq
MIRT2585351	hsa-miR-377	CLIP-seq
MIRT2585352	hsa-miR-378g	CLIP-seq
MIRT2585353	hsa-miR-379	CLIP-seq
MIRT2585354	hsa-miR-3925-3p	CLIP-seq
MIRT1551955	hsa-miR-3944-5p	CLIP-seq
MIRT2585355	hsa-miR-410	CLIP-seq
MIRT2585356	hsa-miR-423-3p	CLIP-seq
MIRT1204555	hsa-miR-4252	CLIP-seq
MIRT2585357	hsa-miR-4260	CLIP-seq
MIRT2585358	hsa-miR-4282	CLIP-seq
MIRT2059007	hsa-miR-4284	CLIP-seq
MIRT2585359	hsa-miR-4320	CLIP-seq
MIRT2585360	hsa-miR-4328	CLIP-seq
MIRT2585361	hsa-miR-4435	CLIP-seq
MIRT2585362	hsa-miR-4437	CLIP-seq
MIRT1204556	hsa-miR-4438	CLIP-seq
MIRT2585363	hsa-miR-4451	CLIP-seq
MIRT2585364	hsa-miR-4468	CLIP-seq
MIRT2585365	hsa-miR-450a	CLIP-seq
MIRT1551956	hsa-miR-4519	CLIP-seq
MIRT2585366	hsa-miR-4534	CLIP-seq
MIRT2585367	hsa-miR-4650-3p	CLIP-seq
MIRT1551957	hsa-miR-4660	CLIP-seq
MIRT2585368	hsa-miR-4674	CLIP-seq
MIRT2585369	hsa-miR-4686	CLIP-seq
MIRT2585370	hsa-miR-4701-5p	CLIP-seq
MIRT2585371	hsa-miR-4709-5p	CLIP-seq
MIRT2585372	hsa-miR-4712-5p	CLIP-seq
MIRT2585373	hsa-miR-4714-3p	CLIP-seq
MIRT2585374	hsa-miR-4716-5p	CLIP-seq
MIRT2585375	hsa-miR-4717-3p	CLIP-seq
MIRT2585376	hsa-miR-4722-3p	CLIP-seq
MIRT2287145	hsa-miR-4731-5p	CLIP-seq
MIRT2585377	hsa-miR-4732-3p	CLIP-seq
MIRT1204546	hsa-miR-4735-5p	CLIP-seq
MIRT2585378	hsa-miR-4737	CLIP-seq
MIRT2585379	hsa-miR-4755-3p	CLIP-seq
MIRT2585380	hsa-miR-4772-3p	CLIP-seq
MIRT2585381	hsa-miR-4775	CLIP-seq
MIRT2585382	hsa-miR-4781-3p	CLIP-seq
MIRT1204557	hsa-miR-4786-3p	CLIP-seq
MIRT2585383	hsa-miR-4787-3p	CLIP-seq
MIRT2585384	hsa-miR-4795-3p	CLIP-seq
MIRT2585385	hsa-miR-4803	CLIP-seq
MIRT2585386	hsa-miR-498	CLIP-seq
MIRT2585387	hsa-miR-499-3p	CLIP-seq
MIRT2585388	hsa-miR-499a-3p	CLIP-seq
MIRT1551958	hsa-miR-5047	CLIP-seq
MIRT1204558	hsa-miR-5095	CLIP-seq
MIRT2287146	hsa-miR-512-3p	CLIP-seq
MIRT2585389	hsa-miR-519d	CLIP-seq
MIRT2585390	hsa-miR-520a-3p	CLIP-seq
MIRT2585391	hsa-miR-520b	CLIP-seq
MIRT2585392	hsa-miR-520c-3p	CLIP-seq
MIRT2585393	hsa-miR-520d-3p	CLIP-seq
MIRT2585394	hsa-miR-520d-5p	CLIP-seq
MIRT2585395	hsa-miR-520e	CLIP-seq
MIRT2585396	hsa-miR-520g	CLIP-seq
MIRT2585397	hsa-miR-520h	CLIP-seq
MIRT2585398	hsa-miR-524-5p	CLIP-seq
MIRT2585399	hsa-miR-548s	CLIP-seq
MIRT2585400	hsa-miR-556-5p	CLIP-seq
MIRT2585401	hsa-miR-588	CLIP-seq
MIRT2585402	hsa-miR-590-3p	CLIP-seq
MIRT2585403	hsa-miR-605	CLIP-seq
MIRT2585404	hsa-miR-621	CLIP-seq
MIRT2585405	hsa-miR-655	CLIP-seq
MIRT2585406	hsa-miR-718	CLIP-seq
MIRT2585407	hsa-miR-767-3p	CLIP-seq
MIRT2585408	hsa-miR-770-5p	CLIP-seq
MIRT2585409	hsa-miR-891b	CLIP-seq
MIRT2585410	hsa-miR-93	CLIP-seq
MIRT2585411	hsa-miR-939	CLIP-seq
MIRT1204560	hsa-miR-944	CLIP-seq
MIRT2585311	hsa-miR-106a	CLIP-seq
MIRT2585312	hsa-miR-106b	CLIP-seq
MIRT1922891	hsa-miR-122	CLIP-seq
MIRT1551951	hsa-miR-1301	CLIP-seq
MIRT1922892	hsa-miR-1307	CLIP-seq
MIRT2585315	hsa-miR-1343	CLIP-seq
MIRT1551952	hsa-miR-148a	CLIP-seq
MIRT1551953	hsa-miR-148b	CLIP-seq
MIRT2585316	hsa-miR-150	CLIP-seq
MIRT1551954	hsa-miR-152	CLIP-seq
MIRT2585317	hsa-miR-17	CLIP-seq
MIRT2585318	hsa-miR-1976	CLIP-seq
MIRT2585319	hsa-miR-2054	CLIP-seq
MIRT2585320	hsa-miR-20a	CLIP-seq
MIRT2585321	hsa-miR-20b	CLIP-seq
MIRT2585322	hsa-miR-2110	CLIP-seq
MIRT2585323	hsa-miR-217	CLIP-seq
MIRT2585325	hsa-miR-22	CLIP-seq
MIRT2585326	hsa-miR-302a	CLIP-seq
MIRT2585327	hsa-miR-302b	CLIP-seq
MIRT2585328	hsa-miR-302c	CLIP-seq
MIRT2585329	hsa-miR-302d	CLIP-seq
MIRT2585330	hsa-miR-302e	CLIP-seq
MIRT2585331	hsa-miR-3129-3p	CLIP-seq
MIRT2585334	hsa-miR-3146	CLIP-seq
MIRT2585335	hsa-miR-3150a-3p	CLIP-seq
MIRT2585336	hsa-miR-3150a-5p	CLIP-seq
MIRT2585337	hsa-miR-3150b-5p	CLIP-seq
MIRT2585339	hsa-miR-3175	CLIP-seq
MIRT2585340	hsa-miR-3187-3p	CLIP-seq
MIRT2585341	hsa-miR-3529	CLIP-seq
MIRT2585342	hsa-miR-361-5p	CLIP-seq
MIRT1204554	hsa-miR-3646	CLIP-seq
MIRT2585345	hsa-miR-3689d	CLIP-seq
MIRT2585348	hsa-miR-372	CLIP-seq
MIRT2585349	hsa-miR-373	CLIP-seq
MIRT2585350	hsa-miR-374c	CLIP-seq
MIRT2585351	hsa-miR-377	CLIP-seq
MIRT2585352	hsa-miR-378g	CLIP-seq
MIRT2585353	hsa-miR-379	CLIP-seq
MIRT2585354	hsa-miR-3925-3p	CLIP-seq
MIRT1551955	hsa-miR-3944-5p	CLIP-seq
MIRT2585356	hsa-miR-423-3p	CLIP-seq
MIRT1204555	hsa-miR-4252	CLIP-seq
MIRT2585357	hsa-miR-4260	CLIP-seq
MIRT2585358	hsa-miR-4282	CLIP-seq
MIRT2059007	hsa-miR-4284	CLIP-seq
MIRT2585359	hsa-miR-4320	CLIP-seq
MIRT2585360	hsa-miR-4328	CLIP-seq
MIRT2585361	hsa-miR-4435	CLIP-seq
MIRT2585362	hsa-miR-4437	CLIP-seq
MIRT1204556	hsa-miR-4438	CLIP-seq
MIRT2585363	hsa-miR-4451	CLIP-seq
MIRT2585364	hsa-miR-4468	CLIP-seq
MIRT1551956	hsa-miR-4519	CLIP-seq
MIRT2585367	hsa-miR-4650-3p	CLIP-seq
MIRT1551957	hsa-miR-4660	CLIP-seq
MIRT2585368	hsa-miR-4674	CLIP-seq
MIRT2585369	hsa-miR-4686	CLIP-seq
MIRT2585370	hsa-miR-4701-5p	CLIP-seq
MIRT2585371	hsa-miR-4709-5p	CLIP-seq
MIRT2585372	hsa-miR-4712-5p	CLIP-seq
MIRT2585373	hsa-miR-4714-3p	CLIP-seq
MIRT2585374	hsa-miR-4716-5p	CLIP-seq
MIRT2585375	hsa-miR-4717-3p	CLIP-seq
MIRT2585376	hsa-miR-4722-3p	CLIP-seq
MIRT2287145	hsa-miR-4731-5p	CLIP-seq
MIRT1204546	hsa-miR-4735-5p	CLIP-seq
MIRT2585380	hsa-miR-4772-3p	CLIP-seq
MIRT2585381	hsa-miR-4775	CLIP-seq
MIRT2585382	hsa-miR-4781-3p	CLIP-seq
MIRT1204557	hsa-miR-4786-3p	CLIP-seq
MIRT2585383	hsa-miR-4787-3p	CLIP-seq
MIRT2585384	hsa-miR-4795-3p	CLIP-seq
MIRT2585385	hsa-miR-4803	CLIP-seq
MIRT2585386	hsa-miR-498	CLIP-seq
MIRT1551958	hsa-miR-5047	CLIP-seq
MIRT1204558	hsa-miR-5095	CLIP-seq
MIRT2287146	hsa-miR-512-3p	CLIP-seq
MIRT2585389	hsa-miR-519d	CLIP-seq
MIRT2585390	hsa-miR-520a-3p	CLIP-seq
MIRT2585391	hsa-miR-520b	CLIP-seq
MIRT2585392	hsa-miR-520c-3p	CLIP-seq
MIRT2585393	hsa-miR-520d-3p	CLIP-seq
MIRT2585395	hsa-miR-520e	CLIP-seq
MIRT2585396	hsa-miR-520g	CLIP-seq
MIRT2585397	hsa-miR-520h	CLIP-seq
MIRT2585399	hsa-miR-548s	CLIP-seq
MIRT2585400	hsa-miR-556-5p	CLIP-seq
MIRT2585401	hsa-miR-588	CLIP-seq
MIRT2585402	hsa-miR-590-3p	CLIP-seq
MIRT2585404	hsa-miR-621	CLIP-seq
MIRT2585405	hsa-miR-655	CLIP-seq
MIRT2585406	hsa-miR-718	CLIP-seq
MIRT2585407	hsa-miR-767-3p	CLIP-seq
MIRT2585408	hsa-miR-770-5p	CLIP-seq
MIRT2585409	hsa-miR-891b	CLIP-seq
MIRT2585410	hsa-miR-93	CLIP-seq
MIRT2585411	hsa-miR-939	CLIP-seq
MIRT1204560	hsa-miR-944	CLIP-seq
MIRT1204555	hsa-miR-4252	CLIP-seq

Transcription factors

Show/Hide all(2)

Transcription factor	Regulation	Reference
NFKB1	Activation	19340308
RELA	Activation	19340308

Show/Hide all(47)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000139	Component	Golgi membrane	TAS
GO:0001920	Process	Negative regulation of receptor recycling	IMP	22854040
GO:0002376	Process	Immune system process	IEA
GO:0005515	Function	Protein binding	IPI	15837803, 16189514, 17500595, 17646400, 18307994, 19805065, 20174559, 20195357, 20388642, 21516116, 21617041, 21903422, 21988832, 22854040, 23275563, 23414517, 23956131, 24136289, 24705354, 25026213, 25416956, 25803835, 25910212, 26871637, 27086836, 29892012, 30561431, 31515488, 322
GO:0005634	Component	Nucleus	IBA
GO:0005654	Component	Nucleoplasm	TAS
GO:0005737	Component	Cytoplasm	IBA
GO:0005737	Component	Cytoplasm	IEA
GO:0005737	Component	Cytoplasm	TAS	9488477
GO:0005768	Component	Endosome	IEA
GO:0005776	Component	Autophagosome	IEA
GO:0005794	Component	Golgi apparatus	IBA
GO:0005794	Component	Golgi apparatus	IDA	15837803, 27534431
GO:0005794	Component	Golgi apparatus	IEA
GO:0005802	Component	Trans-Golgi network	IDA	20174559
GO:0005829	Component	Cytosol	IDA
GO:0005829	Component	Cytosol	TAS
GO:0006914	Process	Autophagy	IEA
GO:0007030	Process	Golgi organization	IMP	15837803
GO:0007165	Process	Signal transduction	TAS	9488477
GO:0008104	Process	Intracellular protein localization	IEA
GO:0008219	Process	Cell death	TAS	9488477
GO:0008270	Function	Zinc ion binding	IEA
GO:0010508	Process	Positive regulation of autophagy	IDA	21617041
GO:0030674	Function	Protein-macromolecule adaptor activity	IPI	25803835
GO:0031410	Component	Cytoplasmic vesicle	IEA
GO:0031593	Function	Polyubiquitin modification-dependent protein binding	IDA	21617041
GO:0034067	Process	Protein localization to Golgi apparatus	IBA
GO:0034067	Process	Protein localization to Golgi apparatus	IMP	15837803
GO:0034620	Process	Cellular response to unfolded protein	IMP	27534431
GO:0042802	Function	Identical protein binding	IPI	23414517, 24983867, 25416956, 25910212, 26871637, 32296183
GO:0043001	Process	Golgi to plasma membrane protein transport	IMP	15837803
GO:0043122	Process	Regulation of canonical NF-kappaB signal transduction	IBA
GO:0043124	Process	Negative regulation of canonical NF-kappaB signal transduction	IEA
GO:0045087	Process	Innate immune response	IEA
GO:0046872	Function	Metal ion binding	IEA
GO:0048471	Component	Perinuclear region of cytoplasm	IEA
GO:0050829	Process	Defense response to Gram-negative bacterium	IMP	21617041
GO:0055037	Component	Recycling endosome	IEA
GO:0055038	Component	Recycling endosome membrane	TAS
GO:0061734	Process	Type 2 mitophagy	IMP	25294927
GO:0070530	Function	K63-linked polyubiquitin modification-dependent protein binding	IBA
GO:0070530	Function	K63-linked polyubiquitin modification-dependent protein binding	IEA
GO:0090161	Process	Golgi ribbon formation	IBA
GO:0090161	Process	Golgi ribbon formation	IDA	15837803
GO:0090161	Process	Golgi ribbon formation	IMP	27534431
GO:1904417	Process	Positive regulation of xenophagy	IMP	21617041

MIM	HGNC	e!Ensembl
602432	17142	ENSG00000123240

Protein

UniProt ID

Q96CV9

Protein name

Optineurin (E3-14.7K-interacting protein) (FIP-2) (Huntingtin yeast partner L) (Huntingtin-interacting protein 7) (HIP-7) (Huntingtin-interacting protein L) (NEMO-related protein) (Optic neuropathy-inducing protein) (Transcription factor IIIA-interacting

Protein function

Plays an important role in the maintenance of the Golgi complex, in membrane trafficking, in exocytosis, through its interaction with myosin VI and Rab8 (PubMed:27534431). Links myosin VI to the Golgi complex and plays an important role in Golgi

PDB

2LO4 , 2LUE , 3VTV , 3VTW , 5AAZ , 5B83 , 5EOA , 5EOF , 7CZM , 9B0B , 9B0Z , 9B12 , 9IKQ

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF11577	NEMO	37 → 104	NF-kappa-B essential modulator NEMO	Family
PF16516	CC2-LZ	408 → 507	Leucine zipper of domain CC2 of NEMO, NF-kappa-B essential modulator	Coiled-coil
PF18414	zf_C2H2_10	551 → 576		Domain

Tissue specificity

TISSUE SPECIFICITY: Present in aqueous humor of the eye (at protein level). Expressed in the trabecular meshwork (at protein level) (PubMed:11834836, PubMed:12379221, PubMed:12646749). Expressed in nonpigmented ciliary epithelium (at protein level) (PubMe

Sequence

MSHQPLSCLTEKEDSPSESTGNGPPHLAHPNLDTFTPEELLQQMKELLTENHQLKEAMKL
NNQAMKGRFEELSAWTEKQKEERQFFEIQSKEAKERLMALSHENEKLKEELGKLKGKSER
SSEDPTDDSRLPRAEAEQEKDQLRTQVVRLQAEKADLLGIVSELQLKLNSSGSSEDSFVE
IRMAEGEAEGSVKEIKHSPGPTRTVSTGTALSKYRSRSADGAKNYFEHEELTVSQLLLCL
REGNQKVERLEVALKEAKERVSDFEKKTSNRSEIETQTEGSTEKENDEEKGPETVGSEVE
ALNLQVTSLFKELQEAHTKLSEAELMKKRLQEKCQALERKNSAIPSELNEKQELVYTNKK
LELQVESMLSEIKMEQAKTEDEKSKLTVLQMTHNKLLQEHNNALKTIEELTRKESEKVDR
AVLKELSEKLELAEKALASKQLQMDEMKQTIAKQEEDLETMTILRAQMEVYCSDFHAERA
AREKIHEEKEQLALQLAVLLKENDAFEDGGRQSLMEMQSRHGARTSDSDQQAYLVQRGAE
DRDWRQQRNIPIHSCPKCGEVLPDIDTLQIHVMDCII

Sequence length

577

Interactions

View interactions

	KEGG		Reactome
	Mitophagy - animal Autophagy - animal Amyotrophic lateral sclerosis Pathways of neurodegeneration - multiple diseases		Regulation of PLK1 Activity at G2/M Transition TBC/RABGAPs

Show/Hide Causal Diseases (3)

Disease merge term	Disease name	dbSNP ID	References
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Amyotrophic Lateral Sclerosis	Amyotrophic lateral sclerosis type 12	rs267606929, rs786205611, rs140599944, rs1833371664, rs1833438306, rs1833451208, rs267606928	N/A
Motor Neuron Disease	motor neuron disease	rs895824243	N/A
Open Angle Glaucoma	glaucoma 1, open angle, e	rs774258585, rs28939688	N/A

Show/Hide Unknown Diseases (2)

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.
Glaucoma	glaucoma, normal tension, susceptibility to	N/A	N/A	GenCC
Sarcoidosis	Sarcoidosis	N/A	N/A	GWAS

Show/Hide Text Mining Associations (47)

Disease Name	Relationship Type	References
Associations from Text Mining Disease associations identified through Pubtator
Alzheimer Disease	Associate	21360076, 35666053
Amyotrophic Lateral Sclerosis	Associate	21408173, 21550138, 23078282, 23100398, 23755159, 23881933, 25294927, 25681989, 25700176, 25801386, 25803835, 25943890, 26303227, 26365381, 26740678 View all (13 more)
Amyotrophic lateral sclerosis 1	Associate	21360076, 31838784
Blindness	Associate	17663725, 18485006, 20085643
Bone Diseases	Associate	28993189
Breast Neoplasms	Associate	33917174
Carcinoma Hepatocellular	Associate	37043475
Cognition Disorders	Associate	34528736
Cognitive Dysfunction	Associate	34528736
Colorectal Neoplasms	Associate	36333388
Congenital Hereditary and Neonatal Diseases and Abnormalities	Associate	29558868
Crohn Disease	Associate	24943399
Dementia	Associate	34099552
Diabetes Mellitus Type 2	Associate	34528736
Drug Related Side Effects and Adverse Reactions	Associate	23078282
Exfoliation Syndrome	Associate	12789137
Eye Diseases	Associate	33548116
Familial Primary Pulmonary Hypertension	Associate	36899621
Frontotemporal Dementia	Associate	29558868, 31838784, 32843152, 36799407
Frontotemporal Lobar Degeneration	Associate	21360076, 25943890
Glaucoma	Associate	12789137, 16043855, 16288197, 16885188, 17148662, 17293779, 17563717, 17663725, 17702576, 18385781, 19145250, 20085643, 21408173, 21528004, 23078282 View all (13 more)
Glaucoma 1 Open Angle A	Associate	15547491, 18385781, 29540704
Glaucoma 3 Primary Congenital A	Associate	27485216, 37530275
Glaucoma Open Angle	Associate	12789137, 15547491, 16148883, 16205626, 16885188, 16885925, 17563717, 17615537, 18307994, 18485006, 19096531, 19145250, 19710941, 25414181, 25637523 View all (5 more)
Glioblastoma	Associate	35659339
Glioblastoma	Inhibit	35980802
Herpes Simplex	Associate	31375597
Huntington Disease	Associate	21360076, 29394115
Lead Poisoning Nervous System	Associate	40719721
Leukemia Myeloid Acute	Associate	32783661
Liver Neoplasms	Associate	21360076, 27620379, 29394115, 30033073, 37043475
Low Tension Glaucoma	Associate	12912697, 15851979, 16043855, 16885188, 17293779, 19754948, 23286385, 27275741, 31198474, 36705529
Microcoria congenital	Associate	16288197
Mitochondrial Diseases	Associate	25294927, 27247382, 27484150
Myopathy with Giant Abnormal Mitochondria	Associate	25801386
Neoplasms	Associate	35659339
Neoplasms	Inhibit	35980802
Nerve Degeneration	Associate	21360076, 23078282, 33548116
Neurodegenerative Diseases	Associate	17702576, 20085643, 23078282, 27247382, 27620379, 29394115, 35714595
Optic Atrophies Hereditary	Associate	16885188
Optic Nerve Diseases	Associate	16043855
Osteitis Deformans	Associate	20436471, 21623375, 22796589, 28993189, 29782529, 31530427, 39302926
Parkinson Disease	Associate	26365381, 30945962, 36852447
Respiratory Tract Diseases	Associate	26303227
Retinitis	Associate	17702576, 35714595, 40719721
Testicular Germ Cell Tumor	Inhibit	17167184
Vision Disorders	Associate	16043855, 40719721

OPTN (optineurin)