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

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID	9640
Gene name	Zinc finger protein 592
Gene symbol	ZNF592
Synonyms (NCBI Gene)	CAMOSSCAR5
Chromosome	15
Chromosome location	15q25.3
Summary	This gene is thought to play a role in a complex developmental pathway and the regulation of genes involved in cerebellar development. Mutations in this gene have been associated with autosomal recessive spinocerebellar ataxia. [provided by RefSeq, Jan 20

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miRTarBase ID	miRNA	Experiments	Reference
MIRT047653	hsa-miR-10a-5p	CLASH	23622248
MIRT045934	hsa-miR-125b-5p	CLASH	23622248
MIRT648337	hsa-miR-148b-5p	HITS-CLIP	23824327
MIRT648336	hsa-miR-6874-3p	HITS-CLIP	23824327
MIRT648335	hsa-miR-4277	HITS-CLIP	23824327
MIRT648334	hsa-miR-4769-3p	HITS-CLIP	23824327
MIRT648333	hsa-miR-6817-5p	HITS-CLIP	23824327
MIRT648332	hsa-miR-4727-5p	HITS-CLIP	23824327
MIRT648331	hsa-miR-3064-3p	HITS-CLIP	23824327
MIRT648329	hsa-miR-6738-3p	HITS-CLIP	23824327
MIRT648330	hsa-miR-8081	HITS-CLIP	23824327
MIRT648337	hsa-miR-148b-5p	HITS-CLIP	23824327
MIRT648336	hsa-miR-6874-3p	HITS-CLIP	23824327
MIRT648335	hsa-miR-4277	HITS-CLIP	23824327
MIRT648334	hsa-miR-4769-3p	HITS-CLIP	23824327
MIRT648333	hsa-miR-6817-5p	HITS-CLIP	23824327
MIRT648332	hsa-miR-4727-5p	HITS-CLIP	23824327
MIRT648331	hsa-miR-3064-3p	HITS-CLIP	23824327
MIRT648329	hsa-miR-6738-3p	HITS-CLIP	23824327
MIRT648330	hsa-miR-8081	HITS-CLIP	23824327
MIRT1531148	hsa-miR-103a	CLIP-seq
MIRT1531149	hsa-miR-107	CLIP-seq
MIRT1531150	hsa-miR-1179	CLIP-seq
MIRT1531151	hsa-miR-1184	CLIP-seq
MIRT1531152	hsa-miR-1197	CLIP-seq
MIRT1531153	hsa-miR-1238	CLIP-seq
MIRT1531154	hsa-miR-1254	CLIP-seq
MIRT1531155	hsa-miR-1264	CLIP-seq
MIRT1531156	hsa-miR-1272	CLIP-seq
MIRT1531157	hsa-miR-1294	CLIP-seq
MIRT1531158	hsa-miR-1298	CLIP-seq
MIRT1531159	hsa-miR-151-3p	CLIP-seq
MIRT1531160	hsa-miR-1827	CLIP-seq
MIRT1531161	hsa-miR-199a-5p	CLIP-seq
MIRT1531162	hsa-miR-199b-5p	CLIP-seq
MIRT1531163	hsa-miR-2117	CLIP-seq
MIRT1531164	hsa-miR-2277-3p	CLIP-seq
MIRT1531165	hsa-miR-2278	CLIP-seq
MIRT1531166	hsa-miR-2467-3p	CLIP-seq
MIRT1531167	hsa-miR-3116	CLIP-seq
MIRT1531168	hsa-miR-3137	CLIP-seq
MIRT1531169	hsa-miR-3147	CLIP-seq
MIRT1531170	hsa-miR-3153	CLIP-seq
MIRT1531171	hsa-miR-3164	CLIP-seq
MIRT1531172	hsa-miR-3170	CLIP-seq
MIRT1531173	hsa-miR-3202	CLIP-seq
MIRT1531174	hsa-miR-3609	CLIP-seq
MIRT1531175	hsa-miR-3613-3p	CLIP-seq
MIRT1531176	hsa-miR-3659	CLIP-seq
MIRT1531177	hsa-miR-3689d	CLIP-seq
MIRT1531178	hsa-miR-382	CLIP-seq
MIRT1531179	hsa-miR-3907	CLIP-seq
MIRT1531180	hsa-miR-3921	CLIP-seq
MIRT1531181	hsa-miR-3925-5p	CLIP-seq
MIRT1531182	hsa-miR-3936	CLIP-seq
MIRT1531183	hsa-miR-3944-5p	CLIP-seq
MIRT1531184	hsa-miR-4257	CLIP-seq
MIRT1531185	hsa-miR-4289	CLIP-seq
MIRT1531186	hsa-miR-4302	CLIP-seq
MIRT1531187	hsa-miR-4303	CLIP-seq
MIRT1531188	hsa-miR-4310	CLIP-seq
MIRT1531189	hsa-miR-4316	CLIP-seq
MIRT1531190	hsa-miR-432	CLIP-seq
MIRT1531191	hsa-miR-4418	CLIP-seq
MIRT1531192	hsa-miR-4420	CLIP-seq
MIRT1531193	hsa-miR-4427	CLIP-seq
MIRT1531194	hsa-miR-4443	CLIP-seq
MIRT1531195	hsa-miR-4453	CLIP-seq
MIRT1531196	hsa-miR-4463	CLIP-seq
MIRT1531197	hsa-miR-4468	CLIP-seq
MIRT1531198	hsa-miR-4476	CLIP-seq
MIRT1531199	hsa-miR-4477a	CLIP-seq
MIRT1531200	hsa-miR-4487	CLIP-seq
MIRT1531201	hsa-miR-4494	CLIP-seq
MIRT1531202	hsa-miR-4499	CLIP-seq
MIRT1531203	hsa-miR-4504	CLIP-seq
MIRT1531204	hsa-miR-4519	CLIP-seq
MIRT1531205	hsa-miR-452	CLIP-seq
MIRT1531206	hsa-miR-4521	CLIP-seq
MIRT1531207	hsa-miR-4533	CLIP-seq
MIRT1531208	hsa-miR-4538	CLIP-seq
MIRT1531209	hsa-miR-4640-5p	CLIP-seq
MIRT1531210	hsa-miR-4653-5p	CLIP-seq
MIRT1531211	hsa-miR-4658	CLIP-seq
MIRT1531212	hsa-miR-4676-3p	CLIP-seq
MIRT1531213	hsa-miR-4676-5p	CLIP-seq
MIRT1531214	hsa-miR-4677-3p	CLIP-seq
MIRT1531215	hsa-miR-4685-5p	CLIP-seq
MIRT1531216	hsa-miR-4691-5p	CLIP-seq
MIRT1531217	hsa-miR-4713-3p	CLIP-seq
MIRT1531218	hsa-miR-4726-5p	CLIP-seq
MIRT1531219	hsa-miR-4732-5p	CLIP-seq
MIRT1531220	hsa-miR-4738-3p	CLIP-seq
MIRT1531221	hsa-miR-4742-3p	CLIP-seq
MIRT1531222	hsa-miR-4766-5p	CLIP-seq
MIRT1531223	hsa-miR-4773	CLIP-seq
MIRT1531224	hsa-miR-4794	CLIP-seq
MIRT1531225	hsa-miR-495	CLIP-seq
MIRT1531226	hsa-miR-509-3-5p	CLIP-seq
MIRT1531227	hsa-miR-509-5p	CLIP-seq
MIRT1531228	hsa-miR-542-3p	CLIP-seq
MIRT1531229	hsa-miR-548aa	CLIP-seq
MIRT1531230	hsa-miR-548ah	CLIP-seq
MIRT1531231	hsa-miR-548q	CLIP-seq
MIRT1531232	hsa-miR-549	CLIP-seq
MIRT1531233	hsa-miR-574-5p	CLIP-seq
MIRT1531234	hsa-miR-575	CLIP-seq
MIRT1531235	hsa-miR-577	CLIP-seq
MIRT1531236	hsa-miR-591	CLIP-seq
MIRT1531237	hsa-miR-607	CLIP-seq
MIRT1531238	hsa-miR-646	CLIP-seq
MIRT1531239	hsa-miR-661	CLIP-seq
MIRT1531240	hsa-miR-664	CLIP-seq
MIRT1531241	hsa-miR-758	CLIP-seq
MIRT1531242	hsa-miR-922	CLIP-seq
MIRT1531148	hsa-miR-103a	CLIP-seq
MIRT1531149	hsa-miR-107	CLIP-seq
MIRT1531150	hsa-miR-1179	CLIP-seq
MIRT1531151	hsa-miR-1184	CLIP-seq
MIRT2160485	hsa-miR-1193	CLIP-seq
MIRT1531152	hsa-miR-1197	CLIP-seq
MIRT2160486	hsa-miR-1252	CLIP-seq
MIRT1531154	hsa-miR-1254	CLIP-seq
MIRT2160487	hsa-miR-1266	CLIP-seq
MIRT2160488	hsa-miR-1270	CLIP-seq
MIRT2160489	hsa-miR-1273f	CLIP-seq
MIRT2160490	hsa-miR-1275	CLIP-seq
MIRT1531157	hsa-miR-1294	CLIP-seq
MIRT2160491	hsa-miR-1324	CLIP-seq
MIRT2160492	hsa-miR-1912	CLIP-seq
MIRT2160493	hsa-miR-199a-3p	CLIP-seq
MIRT2160494	hsa-miR-199b-3p	CLIP-seq
MIRT2160495	hsa-miR-216a	CLIP-seq
MIRT2160496	hsa-miR-216b	CLIP-seq
MIRT1531164	hsa-miR-2277-3p	CLIP-seq
MIRT1531165	hsa-miR-2278	CLIP-seq
MIRT2160497	hsa-miR-3064-5p	CLIP-seq
MIRT1531167	hsa-miR-3116	CLIP-seq
MIRT2160498	hsa-miR-3117-5p	CLIP-seq
MIRT2160499	hsa-miR-3120-3p	CLIP-seq
MIRT2160500	hsa-miR-3127-5p	CLIP-seq
MIRT2160501	hsa-miR-3129-5p	CLIP-seq
MIRT2160502	hsa-miR-3130-5p	CLIP-seq
MIRT2160503	hsa-miR-3145-5p	CLIP-seq
MIRT1531169	hsa-miR-3147	CLIP-seq
MIRT2160504	hsa-miR-3150b-3p	CLIP-seq
MIRT2160505	hsa-miR-3158-3p	CLIP-seq
MIRT1531171	hsa-miR-3164	CLIP-seq
MIRT2160506	hsa-miR-3166	CLIP-seq
MIRT1531172	hsa-miR-3170	CLIP-seq
MIRT2160507	hsa-miR-3173-3p	CLIP-seq
MIRT2160508	hsa-miR-3190	CLIP-seq
MIRT1531173	hsa-miR-3202	CLIP-seq
MIRT2160509	hsa-miR-339-3p	CLIP-seq
MIRT2160510	hsa-miR-340	CLIP-seq
MIRT2160511	hsa-miR-3611	CLIP-seq
MIRT2160512	hsa-miR-3647-3p	CLIP-seq
MIRT2160513	hsa-miR-3662	CLIP-seq
MIRT2160514	hsa-miR-3673	CLIP-seq
MIRT1531177	hsa-miR-3689d	CLIP-seq
MIRT2160515	hsa-miR-3714	CLIP-seq
MIRT2160516	hsa-miR-383	CLIP-seq
MIRT2160517	hsa-miR-3918	CLIP-seq
MIRT1531180	hsa-miR-3921	CLIP-seq
MIRT1531183	hsa-miR-3944-5p	CLIP-seq
MIRT2160518	hsa-miR-410	CLIP-seq
MIRT2160519	hsa-miR-4282	CLIP-seq
MIRT1531188	hsa-miR-4310	CLIP-seq
MIRT1531190	hsa-miR-432	CLIP-seq
MIRT1531191	hsa-miR-4418	CLIP-seq
MIRT1531192	hsa-miR-4420	CLIP-seq
MIRT2160520	hsa-miR-4423-3p	CLIP-seq
MIRT2160521	hsa-miR-4428	CLIP-seq
MIRT2160522	hsa-miR-4436b-3p	CLIP-seq
MIRT1531194	hsa-miR-4443	CLIP-seq
MIRT1531195	hsa-miR-4453	CLIP-seq
MIRT2160523	hsa-miR-4457	CLIP-seq
MIRT1531198	hsa-miR-4476	CLIP-seq
MIRT1531199	hsa-miR-4477a	CLIP-seq
MIRT2160524	hsa-miR-4482	CLIP-seq
MIRT2160525	hsa-miR-4488	CLIP-seq
MIRT2160526	hsa-miR-4492	CLIP-seq
MIRT2160527	hsa-miR-4493	CLIP-seq
MIRT2160528	hsa-miR-4498	CLIP-seq
MIRT2160529	hsa-miR-4518	CLIP-seq
MIRT2160530	hsa-miR-4525	CLIP-seq
MIRT1531207	hsa-miR-4533	CLIP-seq
MIRT1531208	hsa-miR-4538	CLIP-seq
MIRT1531209	hsa-miR-4640-5p	CLIP-seq
MIRT2160531	hsa-miR-4649-3p	CLIP-seq
MIRT1531210	hsa-miR-4653-5p	CLIP-seq
MIRT2160532	hsa-miR-4660	CLIP-seq
MIRT2160533	hsa-miR-4665-5p	CLIP-seq
MIRT1531213	hsa-miR-4676-5p	CLIP-seq
MIRT2160534	hsa-miR-4683	CLIP-seq
MIRT1531215	hsa-miR-4685-5p	CLIP-seq
MIRT2160535	hsa-miR-4689	CLIP-seq
MIRT2160536	hsa-miR-4697-5p	CLIP-seq
MIRT2160537	hsa-miR-4721	CLIP-seq
MIRT2160538	hsa-miR-4723-5p	CLIP-seq
MIRT1531218	hsa-miR-4726-5p	CLIP-seq
MIRT2160539	hsa-miR-4731-3p	CLIP-seq
MIRT2160540	hsa-miR-4731-5p	CLIP-seq
MIRT1531219	hsa-miR-4732-5p	CLIP-seq
MIRT2160541	hsa-miR-4736	CLIP-seq
MIRT2160542	hsa-miR-4755-3p	CLIP-seq
MIRT2160543	hsa-miR-4763-5p	CLIP-seq
MIRT2160544	hsa-miR-4771	CLIP-seq
MIRT2160545	hsa-miR-4772-5p	CLIP-seq
MIRT2160546	hsa-miR-4779	CLIP-seq
MIRT2160547	hsa-miR-4784	CLIP-seq
MIRT2160548	hsa-miR-4786-3p	CLIP-seq
MIRT2160549	hsa-miR-4801	CLIP-seq
MIRT2160550	hsa-miR-486-3p	CLIP-seq
MIRT2160551	hsa-miR-488	CLIP-seq
MIRT2160552	hsa-miR-508-5p	CLIP-seq
MIRT1531226	hsa-miR-509-3-5p	CLIP-seq
MIRT1531227	hsa-miR-509-5p	CLIP-seq
MIRT2160553	hsa-miR-513a-3p	CLIP-seq
MIRT2160554	hsa-miR-515-5p	CLIP-seq
MIRT1531234	hsa-miR-575	CLIP-seq
MIRT1531235	hsa-miR-577	CLIP-seq
MIRT2160555	hsa-miR-620	CLIP-seq
MIRT2160556	hsa-miR-625	CLIP-seq
MIRT2160557	hsa-miR-637	CLIP-seq
MIRT1531238	hsa-miR-646	CLIP-seq
MIRT2160558	hsa-miR-654-3p	CLIP-seq
MIRT1531239	hsa-miR-661	CLIP-seq
MIRT2160559	hsa-miR-668	CLIP-seq
MIRT2160560	hsa-miR-762	CLIP-seq
MIRT2160561	hsa-miR-885-3p	CLIP-seq
MIRT2160562	hsa-miR-892a	CLIP-seq
MIRT1531242	hsa-miR-922	CLIP-seq
MIRT2160563	hsa-miR-936	CLIP-seq
MIRT2160564	hsa-miR-944	CLIP-seq
MIRT1531148	hsa-miR-103a	CLIP-seq
MIRT2379789	hsa-miR-105	CLIP-seq
MIRT1531149	hsa-miR-107	CLIP-seq
MIRT1531150	hsa-miR-1179	CLIP-seq
MIRT1531151	hsa-miR-1184	CLIP-seq
MIRT1531155	hsa-miR-1264	CLIP-seq
MIRT1531156	hsa-miR-1272	CLIP-seq
MIRT2160489	hsa-miR-1273f	CLIP-seq
MIRT1531159	hsa-miR-151-3p	CLIP-seq
MIRT2379790	hsa-miR-181a	CLIP-seq
MIRT2379791	hsa-miR-181b	CLIP-seq
MIRT2379792	hsa-miR-181c	CLIP-seq
MIRT2379793	hsa-miR-181d	CLIP-seq
MIRT2379794	hsa-miR-185	CLIP-seq
MIRT2160493	hsa-miR-199a-3p	CLIP-seq
MIRT2160494	hsa-miR-199b-3p	CLIP-seq
MIRT1531164	hsa-miR-2277-3p	CLIP-seq
MIRT1531165	hsa-miR-2278	CLIP-seq
MIRT2379795	hsa-miR-23a	CLIP-seq
MIRT2379796	hsa-miR-23b	CLIP-seq
MIRT2379797	hsa-miR-23c	CLIP-seq
MIRT2379798	hsa-miR-29a	CLIP-seq
MIRT2379799	hsa-miR-29b	CLIP-seq
MIRT2379800	hsa-miR-29c	CLIP-seq
MIRT2379801	hsa-miR-3065-3p	CLIP-seq
MIRT2379802	hsa-miR-31	CLIP-seq
MIRT2160501	hsa-miR-3129-5p	CLIP-seq
MIRT2379803	hsa-miR-3149	CLIP-seq
MIRT2379804	hsa-miR-34c-3p	CLIP-seq
MIRT2160511	hsa-miR-3611	CLIP-seq
MIRT2379805	hsa-miR-3614-5p	CLIP-seq
MIRT2379806	hsa-miR-3671	CLIP-seq
MIRT2379807	hsa-miR-3692	CLIP-seq
MIRT1531178	hsa-miR-382	CLIP-seq
MIRT2160516	hsa-miR-383	CLIP-seq
MIRT2379808	hsa-miR-4262	CLIP-seq
MIRT2379809	hsa-miR-4306	CLIP-seq
MIRT1531191	hsa-miR-4418	CLIP-seq
MIRT1531192	hsa-miR-4420	CLIP-seq
MIRT1531196	hsa-miR-4463	CLIP-seq
MIRT1531199	hsa-miR-4477a	CLIP-seq
MIRT1531202	hsa-miR-4499	CLIP-seq
MIRT1531209	hsa-miR-4640-5p	CLIP-seq
MIRT2379810	hsa-miR-4644	CLIP-seq
MIRT2379811	hsa-miR-4713-5p	CLIP-seq
MIRT1531218	hsa-miR-4726-5p	CLIP-seq
MIRT2379812	hsa-miR-4729	CLIP-seq
MIRT1531219	hsa-miR-4732-5p	CLIP-seq
MIRT1531221	hsa-miR-4742-3p	CLIP-seq
MIRT2379813	hsa-miR-4747-5p	CLIP-seq
MIRT2160545	hsa-miR-4772-5p	CLIP-seq
MIRT1531226	hsa-miR-509-3-5p	CLIP-seq
MIRT1531227	hsa-miR-509-5p	CLIP-seq
MIRT2379814	hsa-miR-548ag	CLIP-seq
MIRT2379815	hsa-miR-548ai	CLIP-seq
MIRT2379816	hsa-miR-605	CLIP-seq
MIRT1531237	hsa-miR-607	CLIP-seq
MIRT2379817	hsa-miR-618	CLIP-seq
MIRT2379818	hsa-miR-767-5p	CLIP-seq
MIRT2160563	hsa-miR-936	CLIP-seq
MIRT2397632	hsa-miR-1208	CLIP-seq
MIRT2397633	hsa-miR-34b	CLIP-seq
MIRT2160513	hsa-miR-3662	CLIP-seq
MIRT2397634	hsa-miR-3691-3p	CLIP-seq
MIRT2397635	hsa-miR-499-3p	CLIP-seq
MIRT2397636	hsa-miR-499a-3p	CLIP-seq
MIRT2464415	hsa-miR-4635	CLIP-seq
MIRT2464416	hsa-miR-548c-3p	CLIP-seq
MIRT2160489	hsa-miR-1273f	CLIP-seq
MIRT2671975	hsa-miR-1302	CLIP-seq
MIRT2379794	hsa-miR-185	CLIP-seq
MIRT2671976	hsa-miR-2110	CLIP-seq
MIRT2671977	hsa-miR-3929	CLIP-seq
MIRT2671978	hsa-miR-4271	CLIP-seq
MIRT2671979	hsa-miR-4298	CLIP-seq
MIRT2379809	hsa-miR-4306	CLIP-seq
MIRT2671980	hsa-miR-4419b	CLIP-seq
MIRT2671981	hsa-miR-4478	CLIP-seq
MIRT2379810	hsa-miR-4644	CLIP-seq
MIRT2671982	hsa-miR-4652-5p	CLIP-seq
MIRT2671983	hsa-miR-4725-3p	CLIP-seq
MIRT2671984	hsa-miR-485-5p	CLIP-seq
MIRT2671985	hsa-miR-516b	CLIP-seq
MIRT2379817	hsa-miR-618	CLIP-seq
MIRT2160489	hsa-miR-1273f	CLIP-seq
MIRT2671975	hsa-miR-1302	CLIP-seq
MIRT2671978	hsa-miR-4271	CLIP-seq
MIRT2671979	hsa-miR-4298	CLIP-seq
MIRT2671983	hsa-miR-4725-3p	CLIP-seq

Show/Hide all (10)

GO ID	Ontology	Definition	Evidence	Reference
GO:0003677	Function	DNA binding	IEA
GO:0003700	Function	DNA-binding transcription factor activity	NAS	34673265
GO:0005515	Function	Protein binding	IPI	25416956
GO:0005634	Component	Nucleus	IEA
GO:0006355	Process	Regulation of DNA-templated transcription	IEA
GO:0008270	Function	Zinc ion binding	IEA
GO:0042731	Function	PH domain binding	IEA
GO:0043560	Function	Insulin receptor substrate binding	IEA
GO:0046627	Process	Negative regulation of insulin receptor signaling pathway	IEA
GO:0046872	Function	Metal ion binding	IEA

MIM	HGNC	e!Ensembl
613624	28986	ENSG00000166716

Q92610

Protein name

Zinc finger protein 592

Protein function

May be involved in transcriptional regulation.

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00096	zf-C2H2	1013 → 1036	Zinc finger, C2H2 type	Domain
PF00096	zf-C2H2	1043 → 1069	Zinc finger, C2H2 type	Domain
PF16622	zf-C2H2_11	1149 → 1177	zinc-finger C2H2-type	Domain

Tissue specificity

TISSUE SPECIFICITY: Widely expressed, with highest levels in skeletal muscle. Expressed throughout the central nervous system, including in the cerebellum and cerebellar vermis, with higher expression in the substantia nigra. Widely expressed in fetal tis

Sequence

MGDMKTPDFDDLLAAFDIPDPTSLDAKEAIQTPSEENESPLKPPGICMDESVSLSHSGSA
PDVPAVSVIVKNTSRQESFEAEKDHITPSLLHNGFRGSDLPPDPHNCGKFDSTFMNGDSA
RSFPGKLEPPKSEPLPTFNQFSPISSPEPEDPIKDNGFGIKPKHSDSYFPPPLGCGAVGG
PVLEALAKFPVPELHMFDHFCKKEPKPEPLPLGSQQEHEQSGQNTVEPHKDPDATRFFGE
ALEFNSHPSNSIGESKGLARELGTCSSVPPRQRLKPAHSKLSSCVAALVALQAKRVASVT
KEDQPGHTKDLSGPTKESSKGSPKMPKSPKSPRSPLEATRKSIKPSDSPRSICSDSSSKG
SPSVAASSPPAIPKVRIKTIKTSSGEIKRTVTRILPDPDDPSKSPVGSPLGSAIAEAPSE
MPGDEVPVEEHFPEAGTNSGSPQGARKGDESMTKASDSSSPSCSSGPRVPKGAAPGSQTG
KKQQSTALQASTLAPANLLPKAVHLANLNLVPHSVAASVTAKSSVQRRSQPQLTQMSVPL
VHQVKKAAPLIVEVFNKVLHSSNPVPLYAPNLSPPADSRIHVPASGYCCLECGDAFALEK
SLSQHYGRRSVHIEVLCTLCSKTLLFFNKCSLLRHARDHKSKGLVMQCSQLLVKPISADQ
MFVSAPVNSTAPAAPAPSSSPKHGLTSGSASPPPPALPLYPDPVRLIRYSIKCLECHKQM
RDYMVLAAHFQRTTEETEGLTCQVCQMLLPNQCSFCAHQRIHAHKSPYCCPECGVLCRSA
YFQTHVKENCLHYARKVGYRCIHCGVVHLTLALLKSHIQERHCQVFHKCAFCPMAFKTAS
STADHSATQHPTQPHRPSQLIYKCSCEMVFNKKRHIQQHFYQNVSKTQVGVFKCPECPLL
FVQKPELMQHVKSTHGVPRNVDELSSLQSSADTSSSRPGSRVPTEPPATSVAARSSSLPS
GRWGRPEAHRRVEARPRLRNTGWTCQECQEWVPDRESYVSHMKKSHGRTLKRYPCRQCEQ
SFHTPNSLRKHIRNNHDTVKKFYTCGYCTEDSPSFPRPSLLESHISLMHGIRNPDLSQTS
KVKPPGGHSPQVNHLKRPVSGVGDAPGTSNGATVSSTKRHKSLFQCAKCSFATDSGLEFQ
SHIPQHQVDSSTAQCLLCGLCYTSASSLSRHLFIVHKVRDQEEEEEEEAAAAEMAVEVAE
PEEGSGEEVPMETRENGLEECAGEPLSADPEARRLLGPAPEDDGGHNDHSQPQASQDQDS
HTLSPQV

Sequence length

1267

Interactions

View interactions

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 Unknown Diseases (22)

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.
Aganglionic megacolon	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ANOREXIA NERVOSA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BIPOLAR DISORDER	—	CTD, Disgenet, GWAS catalog CTD, Disgenet, GWAS catalog CTD, Disgenet, GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BIPOLAR I DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BIPOLAR I DISORDER, MOST RECENT EPISODE MANIC	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CAMOS SYNDROME	—	Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLOR VISION DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEPRESSION, BIPOLAR	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DILATED CARDIOMYOPATHY	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GALLOWAY MOWAT SYNDROME	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Galloway-Mowat syndrome 1	Benign; Uncertain significance	ClinVar Disgenet	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
HEART FAILURE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HIRSCHSPRUNG DISEASE	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERTROPHIC CARDIOMYOPATHY	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MITRAL VALVE PROLAPSE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MIXED BIPOLAR I DISORDER	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOARTHRITIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SARCOIDOSIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 5	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ZNF592-related disorder	Likely benign; Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (30)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Bipolar Disorder	Bipolar Disorder	CTD_human_DG	31043756		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Brain atrophy	Brain atrophy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	28303361		★★★★★ ★☆☆☆☆ Found in Text Mining only
CAMOS syndrome	CAMOS Syndrome	Orphanet			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cerebellar Ataxia	Cerebellar ataxia	Pubtator	20531441	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebral atrophy	Cerebral Atrophy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Clumsiness - motor delay	Motor delay	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital cerebellar ataxia	Congenital Cerebellar Ataxia	BEFREE	20531441		★★★★★ ★☆☆☆☆ Found in Text Mining only
Depression, Bipolar	Bipolar Disorder	CTD_human_DG	31043756		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Dysarthria	Dysarthria	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Galloway Mowat syndrome	Galloway-Mowat Syndrome	BEFREE	20531441		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Galloway Mowat syndrome	Galloway-mowat syndrome	Pubtator	20531441	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GALLOWAY-MOWAT SYNDROME 1	Galloway-Mowat Syndrome	GENOMICS_ENGLAND_DG			★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Intellectual Disability	Mental retardation	BEFREE	20531441		★★★★★ ★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Intellectual developmental disorder	Pubtator	20531441	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	28303361		★★★★★ ★☆☆☆☆ Found in Text Mining only
Manic	Manic Disorder	CTD_human_DG	31043756		★★★★★ ★☆☆☆☆ Found in Text Mining only
Manic Disorder	Manic Disorder	CTD_human_DG	31043756		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mental Retardation	Mental retardation	BEFREE	20531441		★★★★★ ★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Nephrotic Syndrome	Nephrotic Syndrome	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Optic Atrophy	Optic atrophy	Pubtator	20531441	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Optic Atrophy	Optic Atrophy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Renal Insufficiency	Renal Insufficiency	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Skin Abnormalities	Skin abnormalities	Pubtator	20531441	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 5	Spinocerebellar Ataxia	BEFREE	20531441		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 5	Spinocerebellar Ataxia	ORPHANET_DG	20531441, 26123727		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 5	Spinocerebellar Ataxia	CTD_human_DG	20531441		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 5	Spinocerebellar Ataxia	GENOMICS_ENGLAND_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

ZNF592 (zinc finger protein 592)