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

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	81570
Gene name	ClpB family mitochondrial disaggregase
Gene symbol	CLPB
Synonyms (NCBI Gene)	ANKCLBANKCLPHSP78MEGCANNMGCA7MGCA7ASCN9SKD3
Chromosome	11
Chromosome location	11q13.4
Summary	This gene belongs to the ATP-ases associated with diverse cellular activities (AAA+) superfamily. Members of this superfamily form ring-shaped homo-hexamers and have highly conserved ATPase domains that are involved in various processes including DNA repl

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SNP ID	Visualize variation	Clinical significance	Consequence
rs144078282	T>A,C	Likely-pathogenic, pathogenic-likely-pathogenic	Coding sequence variant, genic downstream transcript variant, missense variant
rs150857620	T>A,C	Pathogenic	Genic downstream transcript variant, missense variant, coding sequence variant
rs185461628	G>A	Pathogenic	Stop gained, coding sequence variant
rs200203460	G>A,C,T	Pathogenic	Genic downstream transcript variant, missense variant, stop gained, coding sequence variant, synonymous variant
rs374473067	C>A	Pathogenic	Stop gained, coding sequence variant, intron variant
rs375934856	C>T	Pathogenic	Missense variant, genic downstream transcript variant, coding sequence variant
rs748010262	G>A,T	Pathogenic	Genic downstream transcript variant, coding sequence variant, missense variant
rs748915609	C>T	Pathogenic	Genic downstream transcript variant, coding sequence variant, missense variant
rs759500860	C>A	Pathogenic	Missense variant, coding sequence variant, genic downstream transcript variant
rs777202372	G>A,T	Pathogenic	Stop gained, coding sequence variant, synonymous variant
rs777313457	T>C	Pathogenic	Missense variant, coding sequence variant
rs786205137	C>T	Pathogenic	Missense variant, genic downstream transcript variant, coding sequence variant
rs786205138	T>C	Pathogenic	Missense variant, genic downstream transcript variant, coding sequence variant
rs786205139	T>A	Pathogenic	Stop gained, coding sequence variant
rs876657402	A>-	Pathogenic	Frameshift variant, genic downstream transcript variant, coding sequence variant
rs886041117	C>T	Pathogenic	Missense variant, coding sequence variant
rs886041118	A>G	Pathogenic	Missense variant, genic downstream transcript variant, coding sequence variant
rs886041119	->C	Pathogenic	Frameshift variant, genic downstream transcript variant, coding sequence variant
rs886041120	A>T	Pathogenic	Missense variant, genic downstream transcript variant, coding sequence variant
rs974377052	C>T	Pathogenic	Splice donor variant
rs1064796757	T>G	Likely-pathogenic	Missense variant, intron variant, coding sequence variant
rs1064796961	ATG>-	Likely-pathogenic	Inframe deletion, genic downstream transcript variant, coding sequence variant
rs1466435969	G>A	Pathogenic	Stop gained, coding sequence variant
rs1555086480	T>C	Likely-pathogenic	Splice acceptor variant, genic downstream transcript variant
rs1555087619	C>T	Likely-pathogenic	Splice donor variant, genic downstream transcript variant
rs1565424666	C>A	Pathogenic	Intron variant, genic downstream transcript variant

363

Show/Hide all (363)

miRTarBase ID	miRNA	Experiments	Reference
MIRT052510	hsa-let-7a-5p	CLASH	23622248
MIRT043166	hsa-miR-324-5p	CLASH	23622248
MIRT724068	hsa-miR-3606-3p	HITS-CLIP	19536157
MIRT724067	hsa-miR-513a-3p	HITS-CLIP	19536157
MIRT724066	hsa-miR-513c-3p	HITS-CLIP	19536157
MIRT724065	hsa-miR-595	HITS-CLIP	19536157
MIRT724064	hsa-miR-5009-3p	HITS-CLIP	19536157
MIRT724063	hsa-miR-3124-3p	HITS-CLIP	19536157
MIRT724062	hsa-miR-299-5p	HITS-CLIP	19536157
MIRT724061	hsa-miR-3685	HITS-CLIP	19536157
MIRT724060	hsa-miR-384	HITS-CLIP	19536157
MIRT695563	hsa-miR-4797-5p	HITS-CLIP	23313552
MIRT695562	hsa-miR-3664-5p	HITS-CLIP	23313552
MIRT695561	hsa-miR-5586-3p	HITS-CLIP	23313552
MIRT659470	hsa-miR-4453	HITS-CLIP	23313552
MIRT659469	hsa-miR-4538	HITS-CLIP	23313552
MIRT695560	hsa-miR-3613-3p	HITS-CLIP	23313552
MIRT695559	hsa-miR-759	HITS-CLIP	23313552
MIRT695558	hsa-miR-371b-5p	HITS-CLIP	23313552
MIRT695557	hsa-miR-373-5p	HITS-CLIP	23313552
MIRT695556	hsa-miR-616-5p	HITS-CLIP	23313552
MIRT695555	hsa-miR-371a-5p	HITS-CLIP	23313552
MIRT695554	hsa-miR-372-5p	HITS-CLIP	23313552
MIRT695553	hsa-miR-3120-5p	HITS-CLIP	23313552
MIRT695552	hsa-miR-4522	HITS-CLIP	23313552
MIRT695551	hsa-miR-873-3p	HITS-CLIP	23313552
MIRT659465	hsa-miR-625-5p	HITS-CLIP	23313552
MIRT659464	hsa-miR-4723-5p	HITS-CLIP	23313552
MIRT659463	hsa-miR-5698	HITS-CLIP	23313552
MIRT659462	hsa-miR-6870-5p	HITS-CLIP	23313552
MIRT659461	hsa-miR-7111-5p	HITS-CLIP	23313552
MIRT659460	hsa-miR-4525	HITS-CLIP	23313552
MIRT659459	hsa-miR-5010-5p	HITS-CLIP	23313552
MIRT695550	hsa-miR-6888-3p	HITS-CLIP	23313552
MIRT659458	hsa-miR-1275	HITS-CLIP	23313552
MIRT659457	hsa-miR-4665-5p	HITS-CLIP	23313552
MIRT659456	hsa-miR-7109-5p	HITS-CLIP	23313552
MIRT659455	hsa-miR-6751-5p	HITS-CLIP	23313552
MIRT659454	hsa-miR-6803-5p	HITS-CLIP	23313552
MIRT695549	hsa-miR-6510-3p	HITS-CLIP	23313552
MIRT688749	hsa-miR-548m	HITS-CLIP	23313552
MIRT675447	hsa-miR-34b-3p	HITS-CLIP	23824327
MIRT628331	hsa-miR-512-5p	HITS-CLIP	23824327
MIRT628330	hsa-miR-510-5p	HITS-CLIP	23824327
MIRT628329	hsa-miR-4695-5p	HITS-CLIP	23824327
MIRT628328	hsa-miR-6808-5p	HITS-CLIP	23824327
MIRT628327	hsa-miR-6893-5p	HITS-CLIP	23824327
MIRT628326	hsa-miR-940	HITS-CLIP	23824327
MIRT628325	hsa-miR-3929	HITS-CLIP	23824327
MIRT628324	hsa-miR-4419b	HITS-CLIP	23824327
MIRT628323	hsa-miR-4478	HITS-CLIP	23824327
MIRT628322	hsa-miR-5690	HITS-CLIP	23824327
MIRT628321	hsa-miR-4768-3p	HITS-CLIP	23824327
MIRT628320	hsa-miR-4459	HITS-CLIP	23824327
MIRT628319	hsa-miR-4433a-3p	HITS-CLIP	23824327
MIRT628318	hsa-miR-3664-3p	HITS-CLIP	23824327
MIRT628317	hsa-miR-4649-3p	HITS-CLIP	23824327
MIRT628316	hsa-miR-1827	HITS-CLIP	23824327
MIRT628315	hsa-miR-485-5p	HITS-CLIP	23824327
MIRT628314	hsa-miR-6884-5p	HITS-CLIP	23824327
MIRT628313	hsa-miR-4722-5p	HITS-CLIP	23824327
MIRT628312	hsa-miR-7160-5p	HITS-CLIP	23824327
MIRT628311	hsa-miR-1273e	HITS-CLIP	23824327
MIRT628310	hsa-miR-665	HITS-CLIP	23824327
MIRT659471	hsa-miR-508-5p	HITS-CLIP	23824327
MIRT659470	hsa-miR-4453	HITS-CLIP	23824327
MIRT659469	hsa-miR-4538	HITS-CLIP	23824327
MIRT659468	hsa-miR-4267	HITS-CLIP	23824327
MIRT659467	hsa-miR-1292-3p	HITS-CLIP	23824327
MIRT659466	hsa-miR-766-3p	HITS-CLIP	23824327
MIRT659465	hsa-miR-625-5p	HITS-CLIP	23824327
MIRT659464	hsa-miR-4723-5p	HITS-CLIP	23824327
MIRT659463	hsa-miR-5698	HITS-CLIP	23824327
MIRT659462	hsa-miR-6870-5p	HITS-CLIP	23824327
MIRT659461	hsa-miR-7111-5p	HITS-CLIP	23824327
MIRT659460	hsa-miR-4525	HITS-CLIP	23824327
MIRT659459	hsa-miR-5010-5p	HITS-CLIP	23824327
MIRT659458	hsa-miR-1275	HITS-CLIP	23824327
MIRT659457	hsa-miR-4665-5p	HITS-CLIP	23824327
MIRT659456	hsa-miR-7109-5p	HITS-CLIP	23824327
MIRT659455	hsa-miR-6751-5p	HITS-CLIP	23824327
MIRT659454	hsa-miR-6803-5p	HITS-CLIP	23824327
MIRT628331	hsa-miR-512-5p	HITS-CLIP	23824327
MIRT628330	hsa-miR-510-5p	HITS-CLIP	23824327
MIRT628329	hsa-miR-4695-5p	HITS-CLIP	23824327
MIRT628328	hsa-miR-6808-5p	HITS-CLIP	23824327
MIRT628327	hsa-miR-6893-5p	HITS-CLIP	23824327
MIRT628326	hsa-miR-940	HITS-CLIP	23824327
MIRT628325	hsa-miR-3929	HITS-CLIP	23824327
MIRT628324	hsa-miR-4419b	HITS-CLIP	23824327
MIRT628323	hsa-miR-4478	HITS-CLIP	23824327
MIRT628322	hsa-miR-5690	HITS-CLIP	23824327
MIRT628321	hsa-miR-4768-3p	HITS-CLIP	23824327
MIRT628320	hsa-miR-4459	HITS-CLIP	23824327
MIRT628319	hsa-miR-4433a-3p	HITS-CLIP	23824327
MIRT628318	hsa-miR-3664-3p	HITS-CLIP	23824327
MIRT628317	hsa-miR-4649-3p	HITS-CLIP	23824327
MIRT628316	hsa-miR-1827	HITS-CLIP	23824327
MIRT628315	hsa-miR-485-5p	HITS-CLIP	23824327
MIRT628314	hsa-miR-6884-5p	HITS-CLIP	23824327
MIRT628313	hsa-miR-4722-5p	HITS-CLIP	23824327
MIRT628312	hsa-miR-7160-5p	HITS-CLIP	23824327
MIRT628311	hsa-miR-1273e	HITS-CLIP	23824327
MIRT628310	hsa-miR-665	HITS-CLIP	23824327
MIRT531134	hsa-miR-200b-3p	PAR-CLIP	22012620
MIRT531133	hsa-miR-200c-3p	PAR-CLIP	22012620
MIRT531132	hsa-miR-429	PAR-CLIP	22012620
MIRT531131	hsa-miR-193a-3p	PAR-CLIP	22012620
MIRT531130	hsa-miR-193b-3p	PAR-CLIP	22012620
MIRT531129	hsa-miR-892b	PAR-CLIP	22012620
MIRT531128	hsa-miR-101-5p	PAR-CLIP	22012620
MIRT531127	hsa-miR-3200-5p	PAR-CLIP	22012620
MIRT531126	hsa-miR-6715a-3p	PAR-CLIP	22012620
MIRT531125	hsa-miR-4766-5p	PAR-CLIP	22012620
MIRT531124	hsa-miR-3128	PAR-CLIP	22012620
MIRT531123	hsa-miR-4470	PAR-CLIP	22012620
MIRT628319	hsa-miR-4433a-3p	PAR-CLIP	27292025
MIRT628320	hsa-miR-4459	PAR-CLIP	27292025
MIRT531128	hsa-miR-101-5p	HITS-CLIP	27418678
MIRT531128	hsa-miR-101-5p	HITS-CLIP	27418678
MIRT531128	hsa-miR-101-5p	HITS-CLIP	27418678
MIRT531127	hsa-miR-3200-5p	HITS-CLIP	27418678
MIRT531127	hsa-miR-3200-5p	HITS-CLIP	27418678
MIRT531127	hsa-miR-3200-5p	HITS-CLIP	27418678
MIRT724068	hsa-miR-3606-3p	HITS-CLIP	19536157
MIRT724067	hsa-miR-513a-3p	HITS-CLIP	19536157
MIRT724066	hsa-miR-513c-3p	HITS-CLIP	19536157
MIRT724065	hsa-miR-595	HITS-CLIP	19536157
MIRT724064	hsa-miR-5009-3p	HITS-CLIP	19536157
MIRT724063	hsa-miR-3124-3p	HITS-CLIP	19536157
MIRT724062	hsa-miR-299-5p	HITS-CLIP	19536157
MIRT724061	hsa-miR-3685	HITS-CLIP	19536157
MIRT724060	hsa-miR-384	HITS-CLIP	19536157
MIRT695563	hsa-miR-4797-5p	HITS-CLIP	23313552
MIRT695562	hsa-miR-3664-5p	HITS-CLIP	23313552
MIRT695561	hsa-miR-5586-3p	HITS-CLIP	23313552
MIRT659470	hsa-miR-4453	HITS-CLIP	23313552
MIRT659469	hsa-miR-4538	HITS-CLIP	23313552
MIRT695560	hsa-miR-3613-3p	HITS-CLIP	23313552
MIRT695559	hsa-miR-759	HITS-CLIP	23313552
MIRT695558	hsa-miR-371b-5p	HITS-CLIP	23313552
MIRT695557	hsa-miR-373-5p	HITS-CLIP	23313552
MIRT695556	hsa-miR-616-5p	HITS-CLIP	23313552
MIRT695555	hsa-miR-371a-5p	HITS-CLIP	23313552
MIRT695554	hsa-miR-372-5p	HITS-CLIP	23313552
MIRT695553	hsa-miR-3120-5p	HITS-CLIP	23313552
MIRT695552	hsa-miR-4522	HITS-CLIP	23313552
MIRT695551	hsa-miR-873-3p	HITS-CLIP	23313552
MIRT659465	hsa-miR-625-5p	HITS-CLIP	23313552
MIRT659464	hsa-miR-4723-5p	HITS-CLIP	23313552
MIRT659463	hsa-miR-5698	HITS-CLIP	23313552
MIRT659462	hsa-miR-6870-5p	HITS-CLIP	23313552
MIRT659461	hsa-miR-7111-5p	HITS-CLIP	23313552
MIRT659460	hsa-miR-4525	HITS-CLIP	23313552
MIRT659459	hsa-miR-5010-5p	HITS-CLIP	23313552
MIRT695550	hsa-miR-6888-3p	HITS-CLIP	23313552
MIRT659458	hsa-miR-1275	HITS-CLIP	23313552
MIRT659457	hsa-miR-4665-5p	HITS-CLIP	23313552
MIRT659456	hsa-miR-7109-5p	HITS-CLIP	23313552
MIRT659455	hsa-miR-6751-5p	HITS-CLIP	23313552
MIRT659454	hsa-miR-6803-5p	HITS-CLIP	23313552
MIRT695549	hsa-miR-6510-3p	HITS-CLIP	23313552
MIRT688749	hsa-miR-548m	HITS-CLIP	23313552
MIRT675447	hsa-miR-34b-3p	HITS-CLIP	23824327
MIRT628331	hsa-miR-512-5p	HITS-CLIP	23824327
MIRT628330	hsa-miR-510-5p	HITS-CLIP	23824327
MIRT628329	hsa-miR-4695-5p	HITS-CLIP	23824327
MIRT628328	hsa-miR-6808-5p	HITS-CLIP	23824327
MIRT628327	hsa-miR-6893-5p	HITS-CLIP	23824327
MIRT628326	hsa-miR-940	HITS-CLIP	23824327
MIRT628325	hsa-miR-3929	HITS-CLIP	23824327
MIRT628324	hsa-miR-4419b	HITS-CLIP	23824327
MIRT628323	hsa-miR-4478	HITS-CLIP	23824327
MIRT628322	hsa-miR-5690	HITS-CLIP	23824327
MIRT628321	hsa-miR-4768-3p	HITS-CLIP	23824327
MIRT628320	hsa-miR-4459	HITS-CLIP	23824327
MIRT628319	hsa-miR-4433a-3p	HITS-CLIP	23824327
MIRT628318	hsa-miR-3664-3p	HITS-CLIP	23824327
MIRT628317	hsa-miR-4649-3p	HITS-CLIP	23824327
MIRT628316	hsa-miR-1827	HITS-CLIP	23824327
MIRT628315	hsa-miR-485-5p	HITS-CLIP	23824327
MIRT628314	hsa-miR-6884-5p	HITS-CLIP	23824327
MIRT628313	hsa-miR-4722-5p	HITS-CLIP	23824327
MIRT628312	hsa-miR-7160-5p	HITS-CLIP	23824327
MIRT628311	hsa-miR-1273e	HITS-CLIP	23824327
MIRT628310	hsa-miR-665	HITS-CLIP	23824327
MIRT659471	hsa-miR-508-5p	HITS-CLIP	23824327
MIRT659470	hsa-miR-4453	HITS-CLIP	23824327
MIRT659469	hsa-miR-4538	HITS-CLIP	23824327
MIRT659468	hsa-miR-4267	HITS-CLIP	23824327
MIRT659467	hsa-miR-1292-3p	HITS-CLIP	23824327
MIRT659466	hsa-miR-766-3p	HITS-CLIP	23824327
MIRT659465	hsa-miR-625-5p	HITS-CLIP	23824327
MIRT659464	hsa-miR-4723-5p	HITS-CLIP	23824327
MIRT659463	hsa-miR-5698	HITS-CLIP	23824327
MIRT659462	hsa-miR-6870-5p	HITS-CLIP	23824327
MIRT659461	hsa-miR-7111-5p	HITS-CLIP	23824327
MIRT659460	hsa-miR-4525	HITS-CLIP	23824327
MIRT659459	hsa-miR-5010-5p	HITS-CLIP	23824327
MIRT659458	hsa-miR-1275	HITS-CLIP	23824327
MIRT659457	hsa-miR-4665-5p	HITS-CLIP	23824327
MIRT659456	hsa-miR-7109-5p	HITS-CLIP	23824327
MIRT659455	hsa-miR-6751-5p	HITS-CLIP	23824327
MIRT659454	hsa-miR-6803-5p	HITS-CLIP	23824327
MIRT628331	hsa-miR-512-5p	HITS-CLIP	23824327
MIRT628330	hsa-miR-510-5p	HITS-CLIP	23824327
MIRT628329	hsa-miR-4695-5p	HITS-CLIP	23824327
MIRT628328	hsa-miR-6808-5p	HITS-CLIP	23824327
MIRT628327	hsa-miR-6893-5p	HITS-CLIP	23824327
MIRT628326	hsa-miR-940	HITS-CLIP	23824327
MIRT628325	hsa-miR-3929	HITS-CLIP	23824327
MIRT628324	hsa-miR-4419b	HITS-CLIP	23824327
MIRT628323	hsa-miR-4478	HITS-CLIP	23824327
MIRT628322	hsa-miR-5690	HITS-CLIP	23824327
MIRT628321	hsa-miR-4768-3p	HITS-CLIP	23824327
MIRT628320	hsa-miR-4459	HITS-CLIP	23824327
MIRT628319	hsa-miR-4433a-3p	HITS-CLIP	23824327
MIRT628318	hsa-miR-3664-3p	HITS-CLIP	23824327
MIRT628317	hsa-miR-4649-3p	HITS-CLIP	23824327
MIRT628316	hsa-miR-1827	HITS-CLIP	23824327
MIRT628315	hsa-miR-485-5p	HITS-CLIP	23824327
MIRT628314	hsa-miR-6884-5p	HITS-CLIP	23824327
MIRT628313	hsa-miR-4722-5p	HITS-CLIP	23824327
MIRT628312	hsa-miR-7160-5p	HITS-CLIP	23824327
MIRT628311	hsa-miR-1273e	HITS-CLIP	23824327
MIRT628310	hsa-miR-665	HITS-CLIP	23824327
MIRT531134	hsa-miR-200b-3p	PAR-CLIP	22012620
MIRT531133	hsa-miR-200c-3p	PAR-CLIP	22012620
MIRT531132	hsa-miR-429	PAR-CLIP	22012620
MIRT531131	hsa-miR-193a-3p	PAR-CLIP	22012620
MIRT531130	hsa-miR-193b-3p	PAR-CLIP	22012620
MIRT531129	hsa-miR-892b	PAR-CLIP	22012620
MIRT531128	hsa-miR-101-5p	PAR-CLIP	22012620
MIRT531127	hsa-miR-3200-5p	PAR-CLIP	22012620
MIRT531126	hsa-miR-6715a-3p	PAR-CLIP	22012620
MIRT531125	hsa-miR-4766-5p	PAR-CLIP	22012620
MIRT531124	hsa-miR-3128	PAR-CLIP	22012620
MIRT531123	hsa-miR-4470	PAR-CLIP	22012620
MIRT897660	hsa-miR-1224-5p	CLIP-seq
MIRT897661	hsa-miR-1253	CLIP-seq
MIRT897662	hsa-miR-1273f	CLIP-seq
MIRT897663	hsa-miR-1292	CLIP-seq
MIRT897664	hsa-miR-1294	CLIP-seq
MIRT897665	hsa-miR-1343	CLIP-seq
MIRT897666	hsa-miR-154	CLIP-seq
MIRT897667	hsa-miR-1587	CLIP-seq
MIRT897668	hsa-miR-2116	CLIP-seq
MIRT897669	hsa-miR-219-1-3p	CLIP-seq
MIRT897670	hsa-miR-22	CLIP-seq
MIRT897671	hsa-miR-2467-3p	CLIP-seq
MIRT897672	hsa-miR-296-5p	CLIP-seq
MIRT897673	hsa-miR-3065-5p	CLIP-seq
MIRT897674	hsa-miR-3115	CLIP-seq
MIRT897675	hsa-miR-3132	CLIP-seq
MIRT897676	hsa-miR-3150b-3p	CLIP-seq
MIRT897677	hsa-miR-3154	CLIP-seq
MIRT897678	hsa-miR-3179	CLIP-seq
MIRT897679	hsa-miR-3184	CLIP-seq
MIRT897680	hsa-miR-339-5p	CLIP-seq
MIRT897681	hsa-miR-34a	CLIP-seq
MIRT897682	hsa-miR-34c-5p	CLIP-seq
MIRT897683	hsa-miR-3682-5p	CLIP-seq
MIRT897684	hsa-miR-3936	CLIP-seq
MIRT897685	hsa-miR-423-5p	CLIP-seq
MIRT897686	hsa-miR-4251	CLIP-seq
MIRT897687	hsa-miR-4260	CLIP-seq
MIRT897688	hsa-miR-4261	CLIP-seq
MIRT897689	hsa-miR-4271	CLIP-seq
MIRT897690	hsa-miR-4283	CLIP-seq
MIRT897691	hsa-miR-4300	CLIP-seq
MIRT897692	hsa-miR-4303	CLIP-seq
MIRT897693	hsa-miR-4304	CLIP-seq
MIRT897694	hsa-miR-4316	CLIP-seq
MIRT897695	hsa-miR-4421	CLIP-seq
MIRT897696	hsa-miR-4451	CLIP-seq
MIRT897697	hsa-miR-4471	CLIP-seq
MIRT897698	hsa-miR-4489	CLIP-seq
MIRT897699	hsa-miR-4492	CLIP-seq
MIRT897700	hsa-miR-4498	CLIP-seq
MIRT897701	hsa-miR-449a	CLIP-seq
MIRT897702	hsa-miR-449b	CLIP-seq
MIRT897703	hsa-miR-4524	CLIP-seq
MIRT897704	hsa-miR-4646-5p	CLIP-seq
MIRT897705	hsa-miR-4656	CLIP-seq
MIRT897706	hsa-miR-4675	CLIP-seq
MIRT897707	hsa-miR-4677-3p	CLIP-seq
MIRT897708	hsa-miR-4677-5p	CLIP-seq
MIRT897709	hsa-miR-4689	CLIP-seq
MIRT897710	hsa-miR-4690-5p	CLIP-seq
MIRT897711	hsa-miR-4725-3p	CLIP-seq
MIRT897712	hsa-miR-4741	CLIP-seq
MIRT897713	hsa-miR-4742-5p	CLIP-seq
MIRT897714	hsa-miR-4747-5p	CLIP-seq
MIRT897715	hsa-miR-4751	CLIP-seq
MIRT897716	hsa-miR-4759	CLIP-seq
MIRT897717	hsa-miR-4769-3p	CLIP-seq
MIRT897718	hsa-miR-4778-3p	CLIP-seq
MIRT897719	hsa-miR-4784	CLIP-seq
MIRT897720	hsa-miR-516a-3p	CLIP-seq
MIRT897721	hsa-miR-571	CLIP-seq
MIRT897722	hsa-miR-622	CLIP-seq
MIRT897723	hsa-miR-657	CLIP-seq
MIRT897724	hsa-miR-762	CLIP-seq
MIRT897725	hsa-miR-920	CLIP-seq
MIRT897674	hsa-miR-3115	CLIP-seq
MIRT1966201	hsa-miR-346	CLIP-seq
MIRT1966202	hsa-miR-4288	CLIP-seq
MIRT1966203	hsa-miR-4781-3p	CLIP-seq
MIRT897720	hsa-miR-516a-3p	CLIP-seq
MIRT1966204	hsa-miR-632	CLIP-seq
MIRT1966205	hsa-miR-654-3p	CLIP-seq
MIRT2201978	hsa-miR-1236	CLIP-seq
MIRT2201979	hsa-miR-1288	CLIP-seq
MIRT2201980	hsa-miR-1324	CLIP-seq
MIRT2201981	hsa-miR-217	CLIP-seq
MIRT2201982	hsa-miR-2467-5p	CLIP-seq
MIRT897674	hsa-miR-3115	CLIP-seq
MIRT2201983	hsa-miR-3126-3p	CLIP-seq
MIRT2201984	hsa-miR-3127-3p	CLIP-seq
MIRT897676	hsa-miR-3150b-3p	CLIP-seq
MIRT2201985	hsa-miR-3155	CLIP-seq
MIRT2201986	hsa-miR-3155b	CLIP-seq
MIRT2201987	hsa-miR-3188	CLIP-seq
MIRT2201988	hsa-miR-3192	CLIP-seq
MIRT2201989	hsa-miR-3199	CLIP-seq
MIRT2201990	hsa-miR-345	CLIP-seq
MIRT1966201	hsa-miR-346	CLIP-seq
MIRT2201991	hsa-miR-3975	CLIP-seq
MIRT2201992	hsa-miR-4264	CLIP-seq
MIRT1966202	hsa-miR-4288	CLIP-seq
MIRT897692	hsa-miR-4303	CLIP-seq
MIRT2201993	hsa-miR-4314	CLIP-seq
MIRT2201994	hsa-miR-4446-3p	CLIP-seq
MIRT2201995	hsa-miR-4645-5p	CLIP-seq
MIRT897704	hsa-miR-4646-5p	CLIP-seq
MIRT897705	hsa-miR-4656	CLIP-seq
MIRT2201996	hsa-miR-4673	CLIP-seq
MIRT2201997	hsa-miR-4682	CLIP-seq
MIRT897709	hsa-miR-4689	CLIP-seq
MIRT2201998	hsa-miR-4691-5p	CLIP-seq
MIRT2201999	hsa-miR-4695-3p	CLIP-seq
MIRT897713	hsa-miR-4742-5p	CLIP-seq
MIRT1966203	hsa-miR-4781-3p	CLIP-seq
MIRT897719	hsa-miR-4784	CLIP-seq
MIRT2202000	hsa-miR-484	CLIP-seq
MIRT897720	hsa-miR-516a-3p	CLIP-seq
MIRT2202001	hsa-miR-548g	CLIP-seq
MIRT2202002	hsa-miR-590-3p	CLIP-seq
MIRT897722	hsa-miR-622	CLIP-seq
MIRT1966204	hsa-miR-632	CLIP-seq
MIRT1966205	hsa-miR-654-3p	CLIP-seq
MIRT2202003	hsa-miR-767-3p	CLIP-seq
MIRT2505048	hsa-miR-141	CLIP-seq
MIRT2505049	hsa-miR-200a	CLIP-seq
MIRT897676	hsa-miR-3150b-3p	CLIP-seq
MIRT2505050	hsa-miR-342-5p	CLIP-seq
MIRT2505051	hsa-miR-3928	CLIP-seq
MIRT2505052	hsa-miR-4651	CLIP-seq
MIRT2505053	hsa-miR-4664-5p	CLIP-seq
MIRT897709	hsa-miR-4689	CLIP-seq
MIRT2505054	hsa-miR-4710	CLIP-seq
MIRT897719	hsa-miR-4784	CLIP-seq
MIRT2505055	hsa-miR-608	CLIP-seq

Show/Hide all (21)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000166	Function	Nucleotide binding	IEA
GO:0005515	Function	Protein binding	IPI	19615732, 25416956, 31522117, 33961781
GO:0005524	Function	ATP binding	IEA
GO:0005737	Component	Cytoplasm	IBA
GO:0005739	Component	Mitochondrion	HTP	34800366
GO:0005739	Component	Mitochondrion	IBA
GO:0005739	Component	Mitochondrion	IEA
GO:0005758	Component	Mitochondrial intermembrane space	IDA	31522117, 32866687
GO:0005758	Component	Mitochondrial intermembrane space	IEA
GO:0005758	Component	Mitochondrial intermembrane space	IMP	34115842
GO:0016787	Function	Hydrolase activity	IEA
GO:0016887	Function	ATP hydrolysis activity	IBA
GO:0016887	Function	ATP hydrolysis activity	IEA
GO:0016887	Function	ATP hydrolysis activity	IMP	34115842
GO:0030851	Process	Granulocyte differentiation	IMP	34115842, 34140661
GO:0034605	Process	Cellular response to heat	IBA
GO:0034605	Process	Cellular response to heat	IDA	2745427
GO:0039529	Process	RIG-I signaling pathway	IDA	31522117
GO:0140374	Process	Antiviral innate immune response	IDA	31522117
GO:0140545	Function	ATP-dependent protein disaggregase activity	IDA	32573439
GO:0140545	Function	ATP-dependent protein disaggregase activity	IMP	34115842

MIM	HGNC	e!Ensembl
616254	30664	ENSG00000162129

Q9H078

Protein name

Mitochondrial disaggregase (EC 3.6.1.-) (Suppressor of potassium transport defect 3) [Cleaved into: Mitochondrial disaggregase, cleaved form]

Protein function

Functions as a regulatory ATPase and participates in secretion/protein trafficking process. Has ATP-dependent protein disaggregase activity and is required to maintain the solubility of key mitochondrial proteins (PubMed:32573439, PubMed:3411584

PDB

7TTR , 7TTS , 7US2 , 7XBK , 7XC5 , 8DEH , 8FDS

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF12796	Ank_2	111 → 197	Ankyrin repeats (3 copies)	Repeat
PF13857	Ank_5	249 → 306		Repeat
PF07724	AAA_2	372 → 565	AAA domain (Cdc48 subfamily)	Domain
PF10431	ClpB_D2-small	572 → 651	C-terminal, D2-small domain, of ClpB protein	Domain

Tissue specificity

TISSUE SPECIFICITY: Widely expressed (at protein level) (PubMed:25597511). Expressed in fetal, as well as in adult tissues, with highest levels in adult brain, including thalamus, hippocampus, occipital cortex and parietal cortex. Low expression in granul

Sequence

MLGSLVLRRKALAPRLLLRLLRSPTLRGHGGASGRNVTTGSLGEPQWLRVATGGRPGTSP
ALFSGRGAATGGRQGGRFDTKCLAAATWGRLPGPEETLPGQDSWNGVPSRAGLGMCALAA
ALVVHCYSKSPSNKDAALLEAARANNMQEVSRLLSEGADVNAKHRLGWTALMVAAINRNN
SVVQVLLAAGADPNLGDDFSSVYKTAKEQGIHSLEDGGQDGASRHITNQWTSALEFRRWL
GLPAGVLITREDDFNNRLNNRASFKGCTALHYAVLADDYRTVKELLDGGANPLQRNEMGH
TPLDYAREGEVMKLLRTSEAKYQEKQRKREAEERRRFPLEQRLKEHIIGQESAIATVGAA
IRRKENGWYDEEHPLVFLFLGSSGIGKTELAKQTAKYMHKDAKKGFIRLDMSEFQERHEV
AKFIGSPPGYVGHEEGGQLTKKLKQCPNAVVLFDEVDKAHPDVLTIMLQLFDEGRLTDGK
GKTIDCKDAIFIMTSNVASDEIAQHALQLRQEALEMSRNRIAENLGDVQISDKITISKNF
KENVIRPILKAHFRRDEFLGRINEIVYFLPFCHSELIQLVNKELNFWAKRAKQRHNITLL
WDREVADVLVDGYNVHYGARSIKHEVERRVVNQLAAAYEQDLLPGGCTLRITVEDSDKQL
LKSPELPSPQAEKRLPKLRLEIIDKDSKTRRLDIRAPLHPEKVCNTI

Sequence length

707

Interactions

View interactions

	KEGG
	Longevity regulating pathway - multiple species

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Causal Diseases (9)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
3-Methylglutaconic aciduria	Pathogenic	rs2135485868	RCV002468655	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
3-methylglutaconic aciduria, type VIIA	Likely pathogenic; Pathogenic	rs144078282, rs200203460	RCV002492676 RCV002478519	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
3-methylglutaconic aciduria, type VIIB	Pathogenic; Likely pathogenic	rs774722200, rs2135181870, rs1856507751, rs1951072912, rs774185980, rs2135500473, rs2135500838, rs2135485868, rs2539314305, rs759500860, rs748010262, rs786205138, rs144078282, rs200203460, rs786205139 View all (15 more)	RCV001387772 RCV001526389 RCV001731007 RCV001780517 RCV001994547 View all (25 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
3-Methylglutaric aciduria	Pathogenic	rs2135485868	RCV002468655	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Decreased total neutrophil count	Pathogenic	rs1565424666, rs200203460	RCV002331853 RCV002326924	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Microcytic anemia	Pathogenic	rs2135485868	RCV002468655	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Myeloid maturation arrest	Pathogenic	rs2135485868	RCV002468655	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Neutropenia, severe congenital, 9, autosomal dominant	Pathogenic; Likely pathogenic	rs2135510485, rs1949512456, rs144078282, rs200203460, rs2495982812	RCV002221962 RCV002221963 RCV002492676 RCV002478519 RCV003237404	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Premature ovarian insufficiency	Pathogenic	rs1565424666, rs200203460	RCV002331853 RCV002326924	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (18)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Acute myeloid leukemia	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Adrenocortical carcinoma, hereditary	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTOSOMAL DOMINANT SEVERE CONGENITAL NEUTROPENIA	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CLPB-related disorder	Uncertain significance; Conflicting classifications of pathogenicity; Likely benign; Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colon adenocarcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LEIGH SYNDROME	—	CTD, ClinGen	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Melanoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEUTROPENIA	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neutropenia, severe congenital, 2, autosomal dominant	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEUTROPENIA, SEVERE CONGENITAL, AUTOSOMAL DOMINANT 2	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nonpapillary renal cell carcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OBESITY	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCOLIOSIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SEVERE CONGENITAL NEUTROPENIA	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (48)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Anxiety	Anxiety Disorder	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Cardiomyopathies	Cardiomyopathy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Cataract	Cataract	BEFREE	25595726, 28687938		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cataract	Cataract	Pubtator	34115842, 36074910	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cataract	Cataract	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebellar atrophy	Cerebellar atrophy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebral atrophy	Cerebral Atrophy	BEFREE	25597510		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebral atrophy	Cerebral Atrophy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Choreoathetosis	Choreoathetosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Chronic granulomatous disease	Granulomatous Disease	BEFREE	26283340		★★★★★ ★☆☆☆☆ Found in Text Mining only
Clinodactyly of fingers	Clinodactyly	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital microcephaly	Congenital Microcephaly	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital neutropenia	Congenital Neutropenia	BEFREE	25597510		★★★★★ ★☆☆☆☆ Found in Text Mining only
Developmental regression	Developmental regression	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Ectodermal Dysplasia	Ectodermal Dysplasia	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Encephalopathies	Epileptic encephalopathy	BEFREE	25650066		★★★★★ ★☆☆☆☆ Found in Text Mining only
Encephalopathies	Epileptic encephalopathy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Epilepsy, Generalized	Epilepsy	GENOMICS_ENGLAND_DG	25597511		★★★★★ ★☆☆☆☆ Found in Text Mining only
Fatty Liver	Fatty Liver	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Gross motor development delay	Developmental delay	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypothyroidism	Hypothyroidism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Infertility	Infertility	Pubtator	36074910	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	BEFREE	25597510		★★★★★ ★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid Acute	Myeloid leukemia	Pubtator	35247700	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	BEFREE	31048321		★★★★★ ★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Mitochondrial Diseases	Mitochondrial disease	Pubtator	32573439, 34115842	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Moderate intellectual disability	Mental retardation	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Multiple congenital anomalies	Multiple Congenital Anomalies	CLINVAR_DG	25595726, 25597510, 25597511, 25650066		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neonatal hypoglycemia	Hypoglycemia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Neonatal Hypotonia	Hypotonia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Nephrocalcinosis	Nephrocalcinosis	BEFREE	25595726		★★★★★ ★☆☆☆☆ Found in Text Mining only
Nephrocalcinosis	Nephrocalcinosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	BEFREE	28236071		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neutropenia	Neutropenia	Pubtator	34115842, 36074910, 36745679	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neutropenia	Neutropenia	HPO_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neutropenia Severe Congenital Autosomal Recessive 3	Severe congenital neutropenia	Pubtator	34115842, 35247700, 35499078	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Nystagmus	Nystagmus	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Nystagmus	Nystagmus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	Pubtator	32573439	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Renal Insufficiency	Renal Insufficiency	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Respiratory Failure	Respiratory Failure	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Severe Congenital Microcephaly	Congenital Microcephaly	BEFREE	25650066		★★★★★ ★☆☆☆☆ Found in Text Mining only
Simple renal cyst	Renal cyst	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Steatohepatitis	Fatty Liver	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Ulnar polydactyly of fingers	Postaxial hand polydactyly	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only

CLPB (ClpB family mitochondrial disaggregase)