GPKOW (G-patch domain and KOW motifs)

Gene

• Entrez ID: 27238
• Gene name: G-patch domain and KOW motifs
• Gene symbol: GPKOW
• Synonyms (NCBI Gene): GPATC5, GPATCH5, Mos2, Spp2, T54
• Chromosome: X
• Chromosome location: Xp11.23
• Summary: This gene encodes a putative RNA-binding protein containing G-patch and KOW (Kyprides, Ouzounis, Woese) domains. The encoded protein interacts directly with protein kinase A and protein kinase X and is also found associated with the spliceosome. [provided

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT697113	hsa-miR-4428	HITS-CLIP	23313552
MIRT697112	hsa-miR-3173-3p	HITS-CLIP	23313552
MIRT697111	hsa-miR-6891-5p	HITS-CLIP	23313552
MIRT697110	hsa-miR-34b-3p	HITS-CLIP	23313552
MIRT697109	hsa-miR-4695-5p	HITS-CLIP	23313552
MIRT697108	hsa-miR-6808-5p	HITS-CLIP	23313552
MIRT697107	hsa-miR-6893-5p	HITS-CLIP	23313552
MIRT697106	hsa-miR-940	HITS-CLIP	23313552
MIRT697105	hsa-miR-3614-5p	HITS-CLIP	23313552
MIRT697104	hsa-miR-6500-3p	HITS-CLIP	23313552
MIRT697102	hsa-miR-4521	HITS-CLIP	23313552
MIRT697103	hsa-miR-4649-3p	HITS-CLIP	23313552
MIRT697101	hsa-miR-3192-5p	HITS-CLIP	23313552
MIRT697100	hsa-miR-4738-3p	HITS-CLIP	23313552
MIRT697099	hsa-miR-1827	HITS-CLIP	23313552
MIRT697098	hsa-miR-485-5p	HITS-CLIP	23313552
MIRT697096	hsa-miR-6884-5p	HITS-CLIP	23313552
MIRT697097	hsa-miR-4722-5p	HITS-CLIP	23313552
MIRT697095	hsa-miR-7160-5p	HITS-CLIP	23313552
MIRT697094	hsa-miR-7106-5p	HITS-CLIP	23313552
MIRT697093	hsa-miR-149-3p	HITS-CLIP	23313552
MIRT697092	hsa-miR-4728-5p	HITS-CLIP	23313552
MIRT697091	hsa-miR-6785-5p	HITS-CLIP	23313552
MIRT697090	hsa-miR-6883-5p	HITS-CLIP	23313552
MIRT697089	hsa-miR-6799-5p	HITS-CLIP	23313552
MIRT697088	hsa-miR-1273h-5p	HITS-CLIP	23313552
MIRT697087	hsa-miR-30b-3p	HITS-CLIP	23313552
MIRT697086	hsa-miR-3689a-3p	HITS-CLIP	23313552
MIRT697085	hsa-miR-3689b-3p	HITS-CLIP	23313552
MIRT697084	hsa-miR-3689c	HITS-CLIP	23313552
MIRT697083	hsa-miR-6779-5p	HITS-CLIP	23313552
MIRT697082	hsa-miR-6780a-5p	HITS-CLIP	23313552
MIRT697081	hsa-miR-510-3p	HITS-CLIP	23313552
MIRT697080	hsa-miR-665	HITS-CLIP	23313552
MIRT621482	hsa-miR-4524b-3p	HITS-CLIP	23824327
MIRT621478	hsa-miR-411-5p	HITS-CLIP	23824327
MIRT621481	hsa-miR-6823-5p	HITS-CLIP	23824327
MIRT621480	hsa-miR-4524a-3p	HITS-CLIP	23824327
MIRT621479	hsa-miR-6832-5p	HITS-CLIP	23824327
MIRT621478	hsa-miR-411-5p	HITS-CLIP	23824327
MIRT621477	hsa-miR-548s	HITS-CLIP	23824327
MIRT621476	hsa-miR-4701-5p	HITS-CLIP	23824327
MIRT621475	hsa-miR-588	HITS-CLIP	23824327
MIRT621474	hsa-miR-4435	HITS-CLIP	23824327
MIRT621473	hsa-miR-3187-3p	HITS-CLIP	23824327
MIRT621472	hsa-miR-5096	HITS-CLIP	23824327
MIRT621482	hsa-miR-4524b-3p	HITS-CLIP	23824327
MIRT621478	hsa-miR-411-5p	HITS-CLIP	23824327
MIRT621481	hsa-miR-6823-5p	HITS-CLIP	23824327
MIRT621480	hsa-miR-4524a-3p	HITS-CLIP	23824327
MIRT621479	hsa-miR-6832-5p	HITS-CLIP	23824327
MIRT621478	hsa-miR-411-5p	HITS-CLIP	23824327
MIRT621477	hsa-miR-548s	HITS-CLIP	23824327
MIRT621476	hsa-miR-4701-5p	HITS-CLIP	23824327
MIRT621475	hsa-miR-588	HITS-CLIP	23824327
MIRT621474	hsa-miR-4435	HITS-CLIP	23824327
MIRT621473	hsa-miR-3187-3p	HITS-CLIP	23824327
MIRT621472	hsa-miR-5096	HITS-CLIP	23824327
MIRT697113	hsa-miR-4428	HITS-CLIP	23313552
MIRT697112	hsa-miR-3173-3p	HITS-CLIP	23313552
MIRT697111	hsa-miR-6891-5p	HITS-CLIP	23313552
MIRT697110	hsa-miR-34b-3p	HITS-CLIP	23313552
MIRT697109	hsa-miR-4695-5p	HITS-CLIP	23313552
MIRT697108	hsa-miR-6808-5p	HITS-CLIP	23313552
MIRT697107	hsa-miR-6893-5p	HITS-CLIP	23313552
MIRT697106	hsa-miR-940	HITS-CLIP	23313552
MIRT697105	hsa-miR-3614-5p	HITS-CLIP	23313552
MIRT697104	hsa-miR-6500-3p	HITS-CLIP	23313552
MIRT697102	hsa-miR-4521	HITS-CLIP	23313552
MIRT697103	hsa-miR-4649-3p	HITS-CLIP	23313552
MIRT697101	hsa-miR-3192-5p	HITS-CLIP	23313552
MIRT697100	hsa-miR-4738-3p	HITS-CLIP	23313552
MIRT697099	hsa-miR-1827	HITS-CLIP	23313552
MIRT697098	hsa-miR-485-5p	HITS-CLIP	23313552
MIRT697096	hsa-miR-6884-5p	HITS-CLIP	23313552
MIRT697097	hsa-miR-4722-5p	HITS-CLIP	23313552
MIRT697095	hsa-miR-7160-5p	HITS-CLIP	23313552
MIRT697094	hsa-miR-7106-5p	HITS-CLIP	23313552
MIRT697093	hsa-miR-149-3p	HITS-CLIP	23313552
MIRT697092	hsa-miR-4728-5p	HITS-CLIP	23313552
MIRT697091	hsa-miR-6785-5p	HITS-CLIP	23313552
MIRT697090	hsa-miR-6883-5p	HITS-CLIP	23313552
MIRT697089	hsa-miR-6799-5p	HITS-CLIP	23313552
MIRT697088	hsa-miR-1273h-5p	HITS-CLIP	23313552
MIRT697087	hsa-miR-30b-3p	HITS-CLIP	23313552
MIRT697086	hsa-miR-3689a-3p	HITS-CLIP	23313552
MIRT697085	hsa-miR-3689b-3p	HITS-CLIP	23313552
MIRT697084	hsa-miR-3689c	HITS-CLIP	23313552
MIRT697083	hsa-miR-6779-5p	HITS-CLIP	23313552
MIRT697082	hsa-miR-6780a-5p	HITS-CLIP	23313552
MIRT697081	hsa-miR-510-3p	HITS-CLIP	23313552
MIRT697080	hsa-miR-665	HITS-CLIP	23313552
MIRT621482	hsa-miR-4524b-3p	HITS-CLIP	23824327
MIRT621478	hsa-miR-411-5p	HITS-CLIP	23824327
MIRT621481	hsa-miR-6823-5p	HITS-CLIP	23824327
MIRT621480	hsa-miR-4524a-3p	HITS-CLIP	23824327
MIRT621479	hsa-miR-6832-5p	HITS-CLIP	23824327
MIRT621478	hsa-miR-411-5p	HITS-CLIP	23824327
MIRT621477	hsa-miR-548s	HITS-CLIP	23824327
MIRT621476	hsa-miR-4701-5p	HITS-CLIP	23824327
MIRT621475	hsa-miR-588	HITS-CLIP	23824327
MIRT621474	hsa-miR-4435	HITS-CLIP	23824327
MIRT621473	hsa-miR-3187-3p	HITS-CLIP	23824327
MIRT621472	hsa-miR-5096	HITS-CLIP	23824327
MIRT621482	hsa-miR-4524b-3p	HITS-CLIP	23824327
MIRT621478	hsa-miR-411-5p	HITS-CLIP	23824327
MIRT621481	hsa-miR-6823-5p	HITS-CLIP	23824327
MIRT621480	hsa-miR-4524a-3p	HITS-CLIP	23824327
MIRT621479	hsa-miR-6832-5p	HITS-CLIP	23824327
MIRT621478	hsa-miR-411-5p	HITS-CLIP	23824327
MIRT621477	hsa-miR-548s	HITS-CLIP	23824327
MIRT621476	hsa-miR-4701-5p	HITS-CLIP	23824327
MIRT621475	hsa-miR-588	HITS-CLIP	23824327
MIRT621474	hsa-miR-4435	HITS-CLIP	23824327
MIRT621473	hsa-miR-3187-3p	HITS-CLIP	23824327
MIRT621472	hsa-miR-5096	HITS-CLIP	23824327
MIRT1029506	hsa-miR-1225-3p	CLIP-seq
MIRT1029507	hsa-miR-1233	CLIP-seq
MIRT1029508	hsa-miR-129-3p	CLIP-seq
MIRT1029509	hsa-miR-3150a-3p	CLIP-seq
MIRT1029510	hsa-miR-3175	CLIP-seq
MIRT1029511	hsa-miR-3545-3p	CLIP-seq
MIRT1029512	hsa-miR-371-5p	CLIP-seq
MIRT1029513	hsa-miR-371b-5p	CLIP-seq
MIRT1029514	hsa-miR-3929	CLIP-seq
MIRT1029515	hsa-miR-4300	CLIP-seq
MIRT1029516	hsa-miR-4419b	CLIP-seq
MIRT1029517	hsa-miR-4478	CLIP-seq
MIRT1029518	hsa-miR-4635	CLIP-seq
MIRT1029519	hsa-miR-4667-5p	CLIP-seq
MIRT1029520	hsa-miR-4677-3p	CLIP-seq
MIRT1029521	hsa-miR-4680-5p	CLIP-seq
MIRT1029522	hsa-miR-4683	CLIP-seq
MIRT1029523	hsa-miR-4687-5p	CLIP-seq
MIRT1029524	hsa-miR-4700-5p	CLIP-seq
MIRT1029525	hsa-miR-4755-3p	CLIP-seq
MIRT1029526	hsa-miR-4768-3p	CLIP-seq
MIRT1029527	hsa-miR-513c	CLIP-seq
MIRT1029528	hsa-miR-514b-5p	CLIP-seq
MIRT1029529	hsa-miR-920	CLIP-seq
MIRT1029530	hsa-miR-939	CLIP-seq
MIRT2005425	hsa-miR-122	CLIP-seq
MIRT2005426	hsa-miR-1285	CLIP-seq
MIRT2005427	hsa-miR-1288	CLIP-seq
MIRT1029508	hsa-miR-129-3p	CLIP-seq
MIRT2005428	hsa-miR-1587	CLIP-seq
MIRT2005429	hsa-miR-1915	CLIP-seq
MIRT2005430	hsa-miR-204	CLIP-seq
MIRT2005431	hsa-miR-211	CLIP-seq
MIRT2005432	hsa-miR-2355-3p	CLIP-seq
MIRT2005433	hsa-miR-3120-3p	CLIP-seq
MIRT2005434	hsa-miR-3125	CLIP-seq
MIRT2005435	hsa-miR-3130-3p	CLIP-seq
MIRT2005436	hsa-miR-3135b	CLIP-seq
MIRT1029509	hsa-miR-3150a-3p	CLIP-seq
MIRT2005437	hsa-miR-3169	CLIP-seq
MIRT1029510	hsa-miR-3175	CLIP-seq
MIRT2005438	hsa-miR-3187-5p	CLIP-seq
MIRT2005439	hsa-miR-331-3p	CLIP-seq
MIRT2005440	hsa-miR-3652	CLIP-seq
MIRT1029512	hsa-miR-371-5p	CLIP-seq
MIRT1029513	hsa-miR-371b-5p	CLIP-seq
MIRT2005441	hsa-miR-378g	CLIP-seq
MIRT2005442	hsa-miR-3916	CLIP-seq
MIRT2005443	hsa-miR-3925-3p	CLIP-seq
MIRT2005444	hsa-miR-4284	CLIP-seq
MIRT2005445	hsa-miR-4292	CLIP-seq
MIRT1029515	hsa-miR-4300	CLIP-seq
MIRT2005446	hsa-miR-4430	CLIP-seq
MIRT2005447	hsa-miR-4437	CLIP-seq
MIRT2005448	hsa-miR-4438	CLIP-seq
MIRT2005449	hsa-miR-4446-5p	CLIP-seq
MIRT2005450	hsa-miR-4486	CLIP-seq
MIRT2005451	hsa-miR-4492	CLIP-seq
MIRT2005452	hsa-miR-4498	CLIP-seq
MIRT2005453	hsa-miR-4646-3p	CLIP-seq
MIRT2005454	hsa-miR-4656	CLIP-seq
MIRT1029519	hsa-miR-4667-5p	CLIP-seq
MIRT2005455	hsa-miR-4674	CLIP-seq
MIRT2005456	hsa-miR-4675	CLIP-seq
MIRT1029523	hsa-miR-4687-5p	CLIP-seq
MIRT1029524	hsa-miR-4700-5p	CLIP-seq
MIRT2005457	hsa-miR-4726-3p	CLIP-seq
MIRT2005458	hsa-miR-4741	CLIP-seq
MIRT2005459	hsa-miR-4755-5p	CLIP-seq
MIRT2005460	hsa-miR-4780	CLIP-seq
MIRT2005461	hsa-miR-4793-3p	CLIP-seq
MIRT2005462	hsa-miR-508-5p	CLIP-seq
MIRT2005463	hsa-miR-5095	CLIP-seq
MIRT1029527	hsa-miR-513c	CLIP-seq
MIRT1029528	hsa-miR-514b-5p	CLIP-seq
MIRT2005464	hsa-miR-612	CLIP-seq
MIRT2005465	hsa-miR-622	CLIP-seq
MIRT2005466	hsa-miR-623	CLIP-seq
MIRT2005467	hsa-miR-676	CLIP-seq
MIRT2005468	hsa-miR-762	CLIP-seq
MIRT2005469	hsa-miR-767-5p	CLIP-seq
MIRT1029529	hsa-miR-920	CLIP-seq
MIRT1029530	hsa-miR-939	CLIP-seq
MIRT2238122	hsa-miR-101	CLIP-seq
MIRT2005425	hsa-miR-122	CLIP-seq
MIRT2005426	hsa-miR-1285	CLIP-seq
MIRT2238123	hsa-miR-1343	CLIP-seq
MIRT2238124	hsa-miR-144	CLIP-seq
MIRT2005428	hsa-miR-1587	CLIP-seq
MIRT2005436	hsa-miR-3135b	CLIP-seq
MIRT2005438	hsa-miR-3187-5p	CLIP-seq
MIRT2005439	hsa-miR-331-3p	CLIP-seq
MIRT1029511	hsa-miR-3545-3p	CLIP-seq
MIRT2005440	hsa-miR-3652	CLIP-seq
MIRT2238125	hsa-miR-3692	CLIP-seq
MIRT2005441	hsa-miR-378g	CLIP-seq
MIRT2238126	hsa-miR-3940-5p	CLIP-seq
MIRT2238127	hsa-miR-3942-3p	CLIP-seq
MIRT2005445	hsa-miR-4292	CLIP-seq
MIRT2005446	hsa-miR-4430	CLIP-seq
MIRT2005447	hsa-miR-4437	CLIP-seq
MIRT2005450	hsa-miR-4486	CLIP-seq
MIRT2005451	hsa-miR-4492	CLIP-seq
MIRT2005452	hsa-miR-4498	CLIP-seq
MIRT2238128	hsa-miR-4507	CLIP-seq
MIRT1029518	hsa-miR-4635	CLIP-seq
MIRT2005454	hsa-miR-4656	CLIP-seq
MIRT2005455	hsa-miR-4674	CLIP-seq
MIRT2005456	hsa-miR-4675	CLIP-seq
MIRT1029521	hsa-miR-4680-5p	CLIP-seq
MIRT2005458	hsa-miR-4741	CLIP-seq
MIRT2005464	hsa-miR-612	CLIP-seq
MIRT2238129	hsa-miR-629	CLIP-seq
MIRT2005468	hsa-miR-762	CLIP-seq
MIRT2005469	hsa-miR-767-5p	CLIP-seq
MIRT2005426	hsa-miR-1285	CLIP-seq
MIRT2005433	hsa-miR-3120-3p	CLIP-seq
MIRT2005438	hsa-miR-3187-5p	CLIP-seq
MIRT2005441	hsa-miR-378g	CLIP-seq
MIRT2005444	hsa-miR-4284	CLIP-seq
MIRT2005447	hsa-miR-4437	CLIP-seq
MIRT2005450	hsa-miR-4486	CLIP-seq
MIRT2005455	hsa-miR-4674	CLIP-seq
MIRT2005464	hsa-miR-612	CLIP-seq
MIRT2005425	hsa-miR-122	CLIP-seq
MIRT2005428	hsa-miR-1587	CLIP-seq
MIRT2005436	hsa-miR-3135b	CLIP-seq
MIRT2005439	hsa-miR-331-3p	CLIP-seq
MIRT2005440	hsa-miR-3652	CLIP-seq
MIRT2450548	hsa-miR-3664-5p	CLIP-seq
MIRT2005441	hsa-miR-378g	CLIP-seq
MIRT2005445	hsa-miR-4292	CLIP-seq
MIRT2005446	hsa-miR-4430	CLIP-seq
MIRT2005451	hsa-miR-4492	CLIP-seq
MIRT2005452	hsa-miR-4498	CLIP-seq
MIRT2005454	hsa-miR-4656	CLIP-seq
MIRT2005456	hsa-miR-4675	CLIP-seq
MIRT2005458	hsa-miR-4741	CLIP-seq
MIRT2450549	hsa-miR-618	CLIP-seq
MIRT2005468	hsa-miR-762	CLIP-seq
MIRT2005425	hsa-miR-122	CLIP-seq
MIRT2005426	hsa-miR-1285	CLIP-seq
MIRT2542044	hsa-miR-129-5p	CLIP-seq
MIRT2238123	hsa-miR-1343	CLIP-seq
MIRT2005428	hsa-miR-1587	CLIP-seq
MIRT2005434	hsa-miR-3125	CLIP-seq
MIRT2005436	hsa-miR-3135b	CLIP-seq
MIRT2542045	hsa-miR-3152-5p	CLIP-seq
MIRT2542046	hsa-miR-3159	CLIP-seq
MIRT2542047	hsa-miR-3186-5p	CLIP-seq
MIRT2005438	hsa-miR-3187-5p	CLIP-seq
MIRT2005439	hsa-miR-331-3p	CLIP-seq
MIRT2005440	hsa-miR-3652	CLIP-seq
MIRT2005441	hsa-miR-378g	CLIP-seq
MIRT2005442	hsa-miR-3916	CLIP-seq
MIRT2005443	hsa-miR-3925-3p	CLIP-seq
MIRT2005445	hsa-miR-4292	CLIP-seq
MIRT2005446	hsa-miR-4430	CLIP-seq
MIRT2005450	hsa-miR-4486	CLIP-seq
MIRT2005451	hsa-miR-4492	CLIP-seq
MIRT2005452	hsa-miR-4498	CLIP-seq
MIRT2005454	hsa-miR-4656	CLIP-seq
MIRT2005456	hsa-miR-4675	CLIP-seq
MIRT2005458	hsa-miR-4741	CLIP-seq
MIRT2542048	hsa-miR-4753-3p	CLIP-seq
MIRT2542049	hsa-miR-4775	CLIP-seq
MIRT2005461	hsa-miR-4793-3p	CLIP-seq
MIRT2542050	hsa-miR-498	CLIP-seq
MIRT2005462	hsa-miR-508-5p	CLIP-seq
MIRT2542051	hsa-miR-590-3p	CLIP-seq
MIRT2005464	hsa-miR-612	CLIP-seq
MIRT2005465	hsa-miR-622	CLIP-seq
MIRT2005468	hsa-miR-762	CLIP-seq
MIRT2005469	hsa-miR-767-5p	CLIP-seq
MIRT2542052	hsa-miR-875-5p	CLIP-seq
MIRT2005425	hsa-miR-122	CLIP-seq
MIRT2005426	hsa-miR-1285	CLIP-seq
MIRT2542044	hsa-miR-129-5p	CLIP-seq
MIRT2238123	hsa-miR-1343	CLIP-seq
MIRT2005428	hsa-miR-1587	CLIP-seq
MIRT2005434	hsa-miR-3125	CLIP-seq
MIRT2005436	hsa-miR-3135b	CLIP-seq
MIRT2542045	hsa-miR-3152-5p	CLIP-seq
MIRT2005438	hsa-miR-3187-5p	CLIP-seq
MIRT2005439	hsa-miR-331-3p	CLIP-seq
MIRT2005440	hsa-miR-3652	CLIP-seq
MIRT2005441	hsa-miR-378g	CLIP-seq
MIRT2005442	hsa-miR-3916	CLIP-seq
MIRT2005443	hsa-miR-3925-3p	CLIP-seq
MIRT2005445	hsa-miR-4292	CLIP-seq
MIRT2005446	hsa-miR-4430	CLIP-seq
MIRT2005450	hsa-miR-4486	CLIP-seq
MIRT2005451	hsa-miR-4492	CLIP-seq
MIRT2005452	hsa-miR-4498	CLIP-seq
MIRT2005454	hsa-miR-4656	CLIP-seq
MIRT2005456	hsa-miR-4675	CLIP-seq
MIRT2005458	hsa-miR-4741	CLIP-seq
MIRT2542048	hsa-miR-4753-3p	CLIP-seq
MIRT2542049	hsa-miR-4775	CLIP-seq
MIRT2005461	hsa-miR-4793-3p	CLIP-seq
MIRT2542050	hsa-miR-498	CLIP-seq
MIRT2005462	hsa-miR-508-5p	CLIP-seq
MIRT2542051	hsa-miR-590-3p	CLIP-seq
MIRT2005464	hsa-miR-612	CLIP-seq
MIRT2005465	hsa-miR-622	CLIP-seq
MIRT2005468	hsa-miR-762	CLIP-seq
MIRT2542052	hsa-miR-875-5p	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000398	Process	MRNA splicing, via spliceosome	IBA
GO:0000398	Process	MRNA splicing, via spliceosome	IEA
GO:0000398	Process	MRNA splicing, via spliceosome	IMP	25296192
GO:0003676	Function	Nucleic acid binding	IEA
GO:0003723	Function	RNA binding	IDA	21880142
GO:0003723	Function	RNA binding	IEA
GO:0003723	Function	RNA binding	IMP	25296192
GO:0005515	Function	Protein binding	IPI	16491121, 21044950, 21516116, 21880142, 22365833, 25296192, 25416956, 28514442, 30021884, 31515488, 32296183, 33961781, 39251607
GO:0005634	Component	Nucleus	IDA	21880142, 25296192
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	IDA
GO:0005654	Component	Nucleoplasm	TAS
GO:0005681	Component	Spliceosomal complex	IBA
GO:0005681	Component	Spliceosomal complex	IDA	25296192
GO:0006397	Process	MRNA processing	IEA
GO:0008380	Process	RNA splicing	IEA

Other IDs

• MIM: 301003
• HGNC: 30677
• e!Ensembl: ENSG00000068394

Protein

• UniProt ID: Q92917
• Protein name: G-patch domain and KOW motifs-containing protein (G-patch domain-containing protein 5) (Protein MOS2 homolog) (Protein T54)
• Protein function: RNA-binding protein involved in pre-mRNA splicing. As a component of the minor spliceosome, involved in the splicing of U12-type introns in pre-mRNAs (Probable).
• PDB: 7DVQ, 7QTT, 8CH6
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF12656	G-patch_2	149 → 211	G-patch domain	Domain
  PF00467	KOW	243 → 274	KOW motif	Family

• Sequence:

  MADSKEGVLPLTAASTAPISFGFTRTSARRRLADSGDGAGPSPEEKDFLKTVEGRELQSV
  KPQEAPKELVIPLIQNGHRRQPPARPPGPSTDTGALADGVVSQAVKELIAESKKSLEERE
  NAGVDPTLAIPMIQKGCTPSGEGADSEPRAETVPEEANYEAVPVEAYGLAMLRGMGWKPG
  EGIGRTFNQVVKPRVNSLRPKGLGLGANLTEAQALTPTGPSRMPRPDEEQEKDKEDQPQG
  LVPGGAVVVLSGPHRGLYGKVEGLDPDNVRAMVRLAVGSRVVTVSEYYLRPVSQQEFDKN
  TLDLRQQNGTASSRKTLWNQELYIQQDNSERKRKHLPDRQDGPAAKSEKAAPRSQHWLHR
  DLRVRFVDNMYKGGQYYNTKMIIEDVLSPDTCVCRTDEGRVLEGLREDMLETLVPKAEGD
  RVMVVLGPQTGRVGHLLSRDRARSRALVQLPRENQVVELHYDAICQYMGPSDTDDD

• Sequence length: 476

Pathways

Reactome:

mRNA Splicing - Major Pathway

Associated diseases

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)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
GPKOW-related disorder	Uncertain significance; Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HOLOPROSENCEPHALY SEQUENCE WITH HYPOKINESIA AND CONGENITAL JOINT CONTRACTURE SYNDROME	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HOLOPROSENCEPHALY WITH FETAL AKINESIA-HYPOKINESIA SEQUENCE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Holoprosencephaly-hypokinesia-congenital contractures syndrome	Uncertain significance	ClinVar GenCC	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Thyroid cancer, nonmedullary, 1	Uncertain significance; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Abnormal dermatoglyphic pattern	Abnormal dermatoglyphic pattern	HPO_DG			★☆☆☆☆ Found in Text Mining only
Atypical Teratoid Rhabdoid Tumor	Teratoid Rhabdoid Tumor	BEFREE	30990493		★☆☆☆☆ Found in Text Mining only
Blepharophimosis	Blepharophimosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Carcinomatosis of peritoneal cavity	Peritoneal Carcinomatosis	BEFREE	30681378		★☆☆☆☆ Found in Text Mining only
Cerebral cortical atrophy	Cerebral cortical atrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Depressive disorder	Mental Depression	BEFREE	30604810		★☆☆☆☆ Found in Text Mining only
Holoprosencephaly	Holoprosencephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hydranencephaly	Hydranencephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Lethal intrauterine growth restriction-cortical malformation-congenital contractures syndrome	Lethal Intrauterine Growth Restriction-Cortical Malformation-Congenital Contractures Syndrome	Orphanet			★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	31225848		★☆☆☆☆ Found in Text Mining only
Mental Depression	Mental Depression	BEFREE	30604810		★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	BEFREE	28612833		★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Micrognathism	Micrognathism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	30141822		★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	30681378		★☆☆☆☆ Found in Text Mining only