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	93210
Gene name	Post-GPI attachment to proteins phospholipase 3
Gene symbol	PGAP3
Synonyms (NCBI Gene)	AGLA546CAB2PERLD1PP1498hCOS16
Chromosome	17
Chromosome location	17q12
Summary	This gene encodes a glycosylphosphatidylinositol (GPI)-specific phospholipase that primarily localizes to the Golgi apparatus. This ubiquitously expressed gene is predicted to encode a seven-transmembrane protein that removes unsaturated fatty acids from

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SNP ID	Visualize variation	Clinical significance	Consequence
rs144574243	C>A,T	Pathogenic	Splice donor variant, intron variant
rs183208638	G>A	Conflicting-interpretations-of-pathogenicity	3 prime UTR variant, non coding transcript variant, genic downstream transcript variant
rs200598755	C>T	Likely-pathogenic, pathogenic	Non coding transcript variant, intron variant
rs202146344	G>A	Pathogenic, uncertain-significance	Intron variant, coding sequence variant, missense variant, 5 prime UTR variant, non coding transcript variant
rs371549948	G>A,C	Pathogenic	Intron variant, coding sequence variant, missense variant, 5 prime UTR variant, non coding transcript variant
rs587777251	C>T	Pathogenic	Coding sequence variant, missense variant, 5 prime UTR variant, non coding transcript variant
rs587777252	T>C	Pathogenic, likely-pathogenic	Stop lost, coding sequence variant, downstream transcript variant, terminator codon variant, missense variant, non coding transcript variant, genic downstream transcript variant
rs746891574	G>C	Likely-pathogenic	Coding sequence variant, stop gained, intron variant, non coding transcript variant
rs750093817	G>A	Likely-pathogenic, uncertain-significance	Coding sequence variant, downstream transcript variant, intron variant, missense variant, non coding transcript variant, genic downstream transcript variant
rs759541820	G>A,C	Likely-pathogenic	Coding sequence variant, intron variant, missense variant, genic downstream transcript variant, downstream transcript variant, non coding transcript variant
rs776720232	T>C,G	Pathogenic	Non coding transcript variant, missense variant, intron variant, downstream transcript variant, genic downstream transcript variant, coding sequence variant
rs869312812	G>-,GG	Pathogenic	Frameshift variant, 5 prime UTR variant, coding sequence variant, intron variant, non coding transcript variant
rs869312813	C>A,T	Pathogenic	Missense variant, stop gained, genic downstream transcript variant, coding sequence variant, intron variant, non coding transcript variant, downstream transcript variant
rs869312814	T>C	Pathogenic	Missense variant, genic downstream transcript variant, coding sequence variant, intron variant, non coding transcript variant, downstream transcript variant
rs869312815	->G	Pathogenic	Frameshift variant, coding sequence variant, intron variant, non coding transcript variant
rs869312816	A>G	Pathogenic	Missense variant, coding sequence variant, intron variant, non coding transcript variant
rs869312817	A>G	Pathogenic	Missense variant, genic downstream transcript variant, coding sequence variant, intron variant, non coding transcript variant, downstream transcript variant
rs1555610241	C>T	Pathogenic	Intron variant, splice donor variant
rs1555610292	A>-	Pathogenic	Intron variant, coding sequence variant, frameshift variant, 5 prime UTR variant, non coding transcript variant
rs1567870911	C>T	Pathogenic	Coding sequence variant, non coding transcript variant, intron variant, stop gained
rs1567871748	G>T	Likely-pathogenic	Coding sequence variant, non coding transcript variant, intron variant, stop gained

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miRTarBase ID	miRNA	Experiments	Reference
MIRT712655	hsa-miR-4311	HITS-CLIP	19536157
MIRT712654	hsa-miR-513c-5p	HITS-CLIP	19536157
MIRT712653	hsa-miR-514b-5p	HITS-CLIP	19536157
MIRT712655	hsa-miR-4311	HITS-CLIP	19536157
MIRT712654	hsa-miR-513c-5p	HITS-CLIP	19536157
MIRT712653	hsa-miR-514b-5p	HITS-CLIP	19536157
MIRT1227141	hsa-miR-1207-3p	CLIP-seq
MIRT1227142	hsa-miR-1207-5p	CLIP-seq
MIRT1227143	hsa-miR-1324	CLIP-seq
MIRT1227144	hsa-miR-299-3p	CLIP-seq
MIRT1227145	hsa-miR-3150a-3p	CLIP-seq
MIRT1227146	hsa-miR-3151	CLIP-seq
MIRT1227147	hsa-miR-3155	CLIP-seq
MIRT1227148	hsa-miR-3155b	CLIP-seq
MIRT1227149	hsa-miR-3173-3p	CLIP-seq
MIRT1227150	hsa-miR-3175	CLIP-seq
MIRT1227151	hsa-miR-3667-3p	CLIP-seq
MIRT1227152	hsa-miR-370	CLIP-seq
MIRT1227153	hsa-miR-3929	CLIP-seq
MIRT1227154	hsa-miR-3938	CLIP-seq
MIRT1227155	hsa-miR-4261	CLIP-seq
MIRT1227156	hsa-miR-4419b	CLIP-seq
MIRT1227157	hsa-miR-4428	CLIP-seq
MIRT1227158	hsa-miR-4447	CLIP-seq
MIRT1227159	hsa-miR-4450	CLIP-seq
MIRT1227160	hsa-miR-4472	CLIP-seq
MIRT1227161	hsa-miR-4478	CLIP-seq
MIRT1227162	hsa-miR-4496	CLIP-seq
MIRT1227163	hsa-miR-4667-5p	CLIP-seq
MIRT1227164	hsa-miR-4695-5p	CLIP-seq
MIRT1227165	hsa-miR-4700-5p	CLIP-seq
MIRT1227166	hsa-miR-4731-5p	CLIP-seq
MIRT1227167	hsa-miR-4736	CLIP-seq
MIRT1227168	hsa-miR-4738-3p	CLIP-seq
MIRT1227169	hsa-miR-4763-3p	CLIP-seq
MIRT1227170	hsa-miR-4764-5p	CLIP-seq
MIRT1227171	hsa-miR-4793-5p	CLIP-seq
MIRT1227172	hsa-miR-484	CLIP-seq
MIRT1227173	hsa-miR-485-5p	CLIP-seq
MIRT1227174	hsa-miR-491-5p	CLIP-seq
MIRT1227175	hsa-miR-542-3p	CLIP-seq
MIRT1227176	hsa-miR-642a	CLIP-seq
MIRT1227177	hsa-miR-765	CLIP-seq
MIRT1227178	hsa-miR-939	CLIP-seq
MIRT2066563	hsa-miR-4451	CLIP-seq
MIRT2066564	hsa-miR-4668-3p	CLIP-seq
MIRT2066565	hsa-miR-4688	CLIP-seq
MIRT2066566	hsa-miR-548c-3p	CLIP-seq
MIRT2293930	hsa-let-7a	CLIP-seq
MIRT2293931	hsa-let-7b	CLIP-seq
MIRT2293932	hsa-let-7c	CLIP-seq
MIRT2293933	hsa-let-7d	CLIP-seq
MIRT2293934	hsa-let-7e	CLIP-seq
MIRT2293935	hsa-let-7f	CLIP-seq
MIRT2293936	hsa-let-7g	CLIP-seq
MIRT2293937	hsa-let-7i	CLIP-seq
MIRT2293938	hsa-miR-10a	CLIP-seq
MIRT2293939	hsa-miR-10b	CLIP-seq
MIRT1227142	hsa-miR-1207-5p	CLIP-seq
MIRT2293940	hsa-miR-1208	CLIP-seq
MIRT2293941	hsa-miR-1226	CLIP-seq
MIRT2293942	hsa-miR-1228	CLIP-seq
MIRT2293943	hsa-miR-1236	CLIP-seq
MIRT2293944	hsa-miR-1245b-5p	CLIP-seq
MIRT2293945	hsa-miR-1273d	CLIP-seq
MIRT2293946	hsa-miR-127-5p	CLIP-seq
MIRT2293947	hsa-miR-1285	CLIP-seq
MIRT2293948	hsa-miR-1286	CLIP-seq
MIRT2293949	hsa-miR-1289	CLIP-seq
MIRT2293950	hsa-miR-1294	CLIP-seq
MIRT2293951	hsa-miR-1299	CLIP-seq
MIRT2293952	hsa-miR-1321	CLIP-seq
MIRT1227143	hsa-miR-1324	CLIP-seq
MIRT2293953	hsa-miR-133a	CLIP-seq
MIRT2293954	hsa-miR-133b	CLIP-seq
MIRT2293955	hsa-miR-136	CLIP-seq
MIRT2293956	hsa-miR-138	CLIP-seq
MIRT2293957	hsa-miR-147	CLIP-seq
MIRT2293958	hsa-miR-1470	CLIP-seq
MIRT2293959	hsa-miR-1587	CLIP-seq
MIRT2293960	hsa-miR-181a	CLIP-seq
MIRT2293961	hsa-miR-181b	CLIP-seq
MIRT2293962	hsa-miR-181c	CLIP-seq
MIRT2293963	hsa-miR-181d	CLIP-seq
MIRT2293964	hsa-miR-183	CLIP-seq
MIRT2293965	hsa-miR-188-5p	CLIP-seq
MIRT2293966	hsa-miR-1908	CLIP-seq
MIRT2293967	hsa-miR-1909	CLIP-seq
MIRT2293968	hsa-miR-1914	CLIP-seq
MIRT2293969	hsa-miR-214	CLIP-seq
MIRT2293970	hsa-miR-296-5p	CLIP-seq
MIRT2293971	hsa-miR-3064-3p	CLIP-seq
MIRT2293972	hsa-miR-3122	CLIP-seq
MIRT2293973	hsa-miR-3127-3p	CLIP-seq
MIRT2293974	hsa-miR-3136-3p	CLIP-seq
MIRT2293975	hsa-miR-3141	CLIP-seq
MIRT2293976	hsa-miR-3142	CLIP-seq
MIRT2293977	hsa-miR-3144-5p	CLIP-seq
MIRT2293978	hsa-miR-3145-5p	CLIP-seq
MIRT1227145	hsa-miR-3150a-3p	CLIP-seq
MIRT1227146	hsa-miR-3151	CLIP-seq
MIRT2293979	hsa-miR-3154	CLIP-seq
MIRT1227147	hsa-miR-3155	CLIP-seq
MIRT1227148	hsa-miR-3155b	CLIP-seq
MIRT1227150	hsa-miR-3175	CLIP-seq
MIRT2293980	hsa-miR-3184	CLIP-seq
MIRT2293981	hsa-miR-3187-5p	CLIP-seq
MIRT2293982	hsa-miR-3191	CLIP-seq
MIRT2293983	hsa-miR-3192	CLIP-seq
MIRT2293984	hsa-miR-3198	CLIP-seq
MIRT2293985	hsa-miR-329	CLIP-seq
MIRT2293986	hsa-miR-342-3p	CLIP-seq
MIRT2293987	hsa-miR-3616-3p	CLIP-seq
MIRT2293988	hsa-miR-3619-5p	CLIP-seq
MIRT2293989	hsa-miR-362-3p	CLIP-seq
MIRT2293990	hsa-miR-3652	CLIP-seq
MIRT1227151	hsa-miR-3667-3p	CLIP-seq
MIRT2293991	hsa-miR-3670	CLIP-seq
MIRT2293992	hsa-miR-3688-3p	CLIP-seq
MIRT2293993	hsa-miR-3689a-3p	CLIP-seq
MIRT2293994	hsa-miR-3689c	CLIP-seq
MIRT2293995	hsa-miR-377	CLIP-seq
MIRT2293996	hsa-miR-378g	CLIP-seq
MIRT2293997	hsa-miR-3911	CLIP-seq
MIRT2293998	hsa-miR-3913-5p	CLIP-seq
MIRT2293999	hsa-miR-3926	CLIP-seq
MIRT2294000	hsa-miR-3927	CLIP-seq
MIRT1227154	hsa-miR-3938	CLIP-seq
MIRT2294001	hsa-miR-3939	CLIP-seq
MIRT2294002	hsa-miR-3977	CLIP-seq
MIRT2294003	hsa-miR-3978	CLIP-seq
MIRT2294004	hsa-miR-423-5p	CLIP-seq
MIRT2294005	hsa-miR-4262	CLIP-seq
MIRT2294006	hsa-miR-4277	CLIP-seq
MIRT2294007	hsa-miR-4281	CLIP-seq
MIRT2294008	hsa-miR-4286	CLIP-seq
MIRT2294009	hsa-miR-4294	CLIP-seq
MIRT2294010	hsa-miR-4297	CLIP-seq
MIRT2294011	hsa-miR-4299	CLIP-seq
MIRT2294012	hsa-miR-4309	CLIP-seq
MIRT2294013	hsa-miR-4314	CLIP-seq
MIRT2294014	hsa-miR-4316	CLIP-seq
MIRT2294015	hsa-miR-4417	CLIP-seq
MIRT2294016	hsa-miR-4430	CLIP-seq
MIRT2294017	hsa-miR-4434	CLIP-seq
MIRT2294018	hsa-miR-4436b-3p	CLIP-seq
MIRT2294019	hsa-miR-4446-3p	CLIP-seq
MIRT1227158	hsa-miR-4447	CLIP-seq
MIRT2066563	hsa-miR-4451	CLIP-seq
MIRT2294020	hsa-miR-4453	CLIP-seq
MIRT2294021	hsa-miR-4458	CLIP-seq
MIRT2294022	hsa-miR-4459	CLIP-seq
MIRT2294023	hsa-miR-4464	CLIP-seq
MIRT2294024	hsa-miR-4469	CLIP-seq
MIRT2294025	hsa-miR-4470	CLIP-seq
MIRT1227160	hsa-miR-4472	CLIP-seq
MIRT2294026	hsa-miR-4477a	CLIP-seq
MIRT2294027	hsa-miR-4486	CLIP-seq
MIRT2294028	hsa-miR-4490	CLIP-seq
MIRT2294029	hsa-miR-4492	CLIP-seq
MIRT2294030	hsa-miR-4498	CLIP-seq
MIRT2294031	hsa-miR-4500	CLIP-seq
MIRT2294032	hsa-miR-4503	CLIP-seq
MIRT2294033	hsa-miR-4505	CLIP-seq
MIRT2294034	hsa-miR-450b-3p	CLIP-seq
MIRT2294035	hsa-miR-4514	CLIP-seq
MIRT2294036	hsa-miR-4516	CLIP-seq
MIRT2294037	hsa-miR-4530	CLIP-seq
MIRT2294038	hsa-miR-4538	CLIP-seq
MIRT2294039	hsa-miR-4633-3p	CLIP-seq
MIRT2294040	hsa-miR-4639-3p	CLIP-seq
MIRT2294041	hsa-miR-4646-5p	CLIP-seq
MIRT2294042	hsa-miR-4651	CLIP-seq
MIRT2294043	hsa-miR-4652-5p	CLIP-seq
MIRT2294044	hsa-miR-4656	CLIP-seq
MIRT2294045	hsa-miR-4661-3p	CLIP-seq
MIRT2294046	hsa-miR-4667-3p	CLIP-seq
MIRT2066564	hsa-miR-4668-3p	CLIP-seq
MIRT2294047	hsa-miR-4675	CLIP-seq
MIRT2294048	hsa-miR-4677-3p	CLIP-seq
MIRT2294049	hsa-miR-4685-5p	CLIP-seq
MIRT2066565	hsa-miR-4688	CLIP-seq
MIRT2294050	hsa-miR-4691-5p	CLIP-seq
MIRT2294051	hsa-miR-4692	CLIP-seq
MIRT2294052	hsa-miR-4694-3p	CLIP-seq
MIRT1227164	hsa-miR-4695-5p	CLIP-seq
MIRT2294053	hsa-miR-4701-5p	CLIP-seq
MIRT2294054	hsa-miR-4704-3p	CLIP-seq
MIRT2294055	hsa-miR-4710	CLIP-seq
MIRT2294056	hsa-miR-4715-3p	CLIP-seq
MIRT2294057	hsa-miR-4717-3p	CLIP-seq
MIRT2294058	hsa-miR-4721	CLIP-seq
MIRT2294059	hsa-miR-4722-5p	CLIP-seq
MIRT2294060	hsa-miR-4725-5p	CLIP-seq
MIRT2294061	hsa-miR-4726-3p	CLIP-seq
MIRT2294062	hsa-miR-4728-5p	CLIP-seq
MIRT1227166	hsa-miR-4731-5p	CLIP-seq
MIRT1227167	hsa-miR-4736	CLIP-seq
MIRT1227168	hsa-miR-4738-3p	CLIP-seq
MIRT2294063	hsa-miR-4739	CLIP-seq
MIRT2294064	hsa-miR-4741	CLIP-seq
MIRT2294065	hsa-miR-4748	CLIP-seq
MIRT2294066	hsa-miR-4755-3p	CLIP-seq
MIRT2294067	hsa-miR-4756-5p	CLIP-seq
MIRT2294068	hsa-miR-4761-3p	CLIP-seq
MIRT2294069	hsa-miR-4762-5p	CLIP-seq
MIRT1227169	hsa-miR-4763-3p	CLIP-seq
MIRT2294070	hsa-miR-4771	CLIP-seq
MIRT2294071	hsa-miR-4773	CLIP-seq
MIRT2294072	hsa-miR-4780	CLIP-seq
MIRT2294073	hsa-miR-4782-5p	CLIP-seq
MIRT2294074	hsa-miR-4786-3p	CLIP-seq
MIRT2294075	hsa-miR-4792	CLIP-seq
MIRT1227171	hsa-miR-4793-5p	CLIP-seq
MIRT2294076	hsa-miR-4794	CLIP-seq
MIRT1227172	hsa-miR-484	CLIP-seq
MIRT2294077	hsa-miR-486-3p	CLIP-seq
MIRT2294078	hsa-miR-490-3p	CLIP-seq
MIRT1227174	hsa-miR-491-5p	CLIP-seq
MIRT2294079	hsa-miR-501-3p	CLIP-seq
MIRT2294080	hsa-miR-502-3p	CLIP-seq
MIRT2294081	hsa-miR-504	CLIP-seq
MIRT2294082	hsa-miR-512-5p	CLIP-seq
MIRT2294083	hsa-miR-516a-5p	CLIP-seq
MIRT2294084	hsa-miR-516b	CLIP-seq
MIRT2294085	hsa-miR-522	CLIP-seq
MIRT2294086	hsa-miR-541	CLIP-seq
MIRT2066566	hsa-miR-548c-3p	CLIP-seq
MIRT2294087	hsa-miR-548s	CLIP-seq
MIRT2294088	hsa-miR-561	CLIP-seq
MIRT2294089	hsa-miR-588	CLIP-seq
MIRT2294090	hsa-miR-603	CLIP-seq
MIRT2294091	hsa-miR-608	CLIP-seq
MIRT2294092	hsa-miR-612	CLIP-seq
MIRT2294093	hsa-miR-622	CLIP-seq
MIRT2294094	hsa-miR-623	CLIP-seq
MIRT2294095	hsa-miR-634	CLIP-seq
MIRT1227176	hsa-miR-642a	CLIP-seq
MIRT2294096	hsa-miR-642b	CLIP-seq
MIRT2294097	hsa-miR-644	CLIP-seq
MIRT2294098	hsa-miR-646	CLIP-seq
MIRT2294099	hsa-miR-647	CLIP-seq
MIRT2294100	hsa-miR-654-5p	CLIP-seq
MIRT2294101	hsa-miR-663	CLIP-seq
MIRT2294102	hsa-miR-665	CLIP-seq
MIRT2294103	hsa-miR-668	CLIP-seq
MIRT2294104	hsa-miR-761	CLIP-seq
MIRT2294105	hsa-miR-762	CLIP-seq
MIRT2294106	hsa-miR-769-3p	CLIP-seq
MIRT2294107	hsa-miR-873	CLIP-seq
MIRT2294108	hsa-miR-885-3p	CLIP-seq
MIRT1227178	hsa-miR-939	CLIP-seq
MIRT2294109	hsa-miR-98	CLIP-seq
MIRT1227143	hsa-miR-1324	CLIP-seq
MIRT2293956	hsa-miR-138	CLIP-seq
MIRT2293959	hsa-miR-1587	CLIP-seq
MIRT2392434	hsa-miR-15a	CLIP-seq
MIRT2392435	hsa-miR-15b	CLIP-seq
MIRT2392436	hsa-miR-16	CLIP-seq
MIRT2392437	hsa-miR-195	CLIP-seq
MIRT2293978	hsa-miR-3145-5p	CLIP-seq
MIRT2293987	hsa-miR-3616-3p	CLIP-seq
MIRT2392438	hsa-miR-424	CLIP-seq
MIRT2294011	hsa-miR-4299	CLIP-seq
MIRT2294015	hsa-miR-4417	CLIP-seq
MIRT2294029	hsa-miR-4492	CLIP-seq
MIRT2294030	hsa-miR-4498	CLIP-seq
MIRT2294042	hsa-miR-4651	CLIP-seq
MIRT2294044	hsa-miR-4656	CLIP-seq
MIRT2294045	hsa-miR-4661-3p	CLIP-seq
MIRT2294047	hsa-miR-4675	CLIP-seq
MIRT2294053	hsa-miR-4701-5p	CLIP-seq
MIRT2294055	hsa-miR-4710	CLIP-seq
MIRT2294058	hsa-miR-4721	CLIP-seq
MIRT2294064	hsa-miR-4741	CLIP-seq
MIRT2294075	hsa-miR-4792	CLIP-seq
MIRT2392439	hsa-miR-497	CLIP-seq
MIRT2294086	hsa-miR-541	CLIP-seq
MIRT2294089	hsa-miR-588	CLIP-seq
MIRT2294091	hsa-miR-608	CLIP-seq
MIRT2294097	hsa-miR-644	CLIP-seq
MIRT2392440	hsa-miR-648	CLIP-seq
MIRT2294100	hsa-miR-654-5p	CLIP-seq
MIRT2392441	hsa-miR-663b	CLIP-seq
MIRT2294105	hsa-miR-762	CLIP-seq
MIRT2293956	hsa-miR-138	CLIP-seq
MIRT2293987	hsa-miR-3616-3p	CLIP-seq
MIRT2294011	hsa-miR-4299	CLIP-seq
MIRT2294042	hsa-miR-4651	CLIP-seq
MIRT2294055	hsa-miR-4710	CLIP-seq
MIRT2294058	hsa-miR-4721	CLIP-seq
MIRT2294075	hsa-miR-4792	CLIP-seq
MIRT2294091	hsa-miR-608	CLIP-seq
MIRT2293941	hsa-miR-1226	CLIP-seq
MIRT2293947	hsa-miR-1285	CLIP-seq
MIRT2293953	hsa-miR-133a	CLIP-seq
MIRT2293954	hsa-miR-133b	CLIP-seq
MIRT2293956	hsa-miR-138	CLIP-seq
MIRT2293959	hsa-miR-1587	CLIP-seq
MIRT2592069	hsa-miR-205	CLIP-seq
MIRT2293970	hsa-miR-296-5p	CLIP-seq
MIRT2592070	hsa-miR-3133	CLIP-seq
MIRT2293978	hsa-miR-3145-5p	CLIP-seq
MIRT1227145	hsa-miR-3150a-3p	CLIP-seq
MIRT1227150	hsa-miR-3175	CLIP-seq
MIRT2293981	hsa-miR-3187-5p	CLIP-seq
MIRT2293986	hsa-miR-342-3p	CLIP-seq
MIRT2293987	hsa-miR-3616-3p	CLIP-seq
MIRT2293990	hsa-miR-3652	CLIP-seq
MIRT1227151	hsa-miR-3667-3p	CLIP-seq
MIRT2592071	hsa-miR-3691-3p	CLIP-seq
MIRT2293996	hsa-miR-378g	CLIP-seq
MIRT2293999	hsa-miR-3926	CLIP-seq
MIRT2294001	hsa-miR-3939	CLIP-seq
MIRT2294007	hsa-miR-4281	CLIP-seq
MIRT2294011	hsa-miR-4299	CLIP-seq
MIRT2294013	hsa-miR-4314	CLIP-seq
MIRT2294015	hsa-miR-4417	CLIP-seq
MIRT2294016	hsa-miR-4430	CLIP-seq
MIRT2294020	hsa-miR-4453	CLIP-seq
MIRT2294027	hsa-miR-4486	CLIP-seq
MIRT2294029	hsa-miR-4492	CLIP-seq
MIRT2294030	hsa-miR-4498	CLIP-seq
MIRT2294033	hsa-miR-4505	CLIP-seq
MIRT2294037	hsa-miR-4530	CLIP-seq
MIRT2294038	hsa-miR-4538	CLIP-seq
MIRT2294042	hsa-miR-4651	CLIP-seq
MIRT2294044	hsa-miR-4656	CLIP-seq
MIRT2294047	hsa-miR-4675	CLIP-seq
MIRT2294053	hsa-miR-4701-5p	CLIP-seq
MIRT2294055	hsa-miR-4710	CLIP-seq
MIRT2294057	hsa-miR-4717-3p	CLIP-seq
MIRT2294058	hsa-miR-4721	CLIP-seq
MIRT1227168	hsa-miR-4738-3p	CLIP-seq
MIRT2294064	hsa-miR-4741	CLIP-seq
MIRT2294075	hsa-miR-4792	CLIP-seq
MIRT2294086	hsa-miR-541	CLIP-seq
MIRT2294087	hsa-miR-548s	CLIP-seq
MIRT2294089	hsa-miR-588	CLIP-seq
MIRT2294091	hsa-miR-608	CLIP-seq
MIRT2294092	hsa-miR-612	CLIP-seq
MIRT2294095	hsa-miR-634	CLIP-seq
MIRT2294098	hsa-miR-646	CLIP-seq
MIRT2294099	hsa-miR-647	CLIP-seq
MIRT2294100	hsa-miR-654-5p	CLIP-seq
MIRT2294105	hsa-miR-762	CLIP-seq
MIRT1227178	hsa-miR-939	CLIP-seq
MIRT2293941	hsa-miR-1226	CLIP-seq
MIRT2293946	hsa-miR-127-5p	CLIP-seq
MIRT2293956	hsa-miR-138	CLIP-seq
MIRT2293985	hsa-miR-329	CLIP-seq
MIRT2293986	hsa-miR-342-3p	CLIP-seq
MIRT2293987	hsa-miR-3616-3p	CLIP-seq
MIRT2293989	hsa-miR-362-3p	CLIP-seq
MIRT2294001	hsa-miR-3939	CLIP-seq
MIRT2294011	hsa-miR-4299	CLIP-seq
MIRT2687724	hsa-miR-4640-3p	CLIP-seq
MIRT2294042	hsa-miR-4651	CLIP-seq
MIRT2294055	hsa-miR-4710	CLIP-seq
MIRT2294057	hsa-miR-4717-3p	CLIP-seq
MIRT2294058	hsa-miR-4721	CLIP-seq
MIRT2294074	hsa-miR-4786-3p	CLIP-seq
MIRT2294075	hsa-miR-4792	CLIP-seq
MIRT2294090	hsa-miR-603	CLIP-seq
MIRT2294091	hsa-miR-608	CLIP-seq
MIRT2294095	hsa-miR-634	CLIP-seq

Show/Hide all (13)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000139	Component	Golgi membrane	IEA
GO:0005515	Function	Protein binding	IPI	32814053, 33961781
GO:0005789	Component	Endoplasmic reticulum membrane	IBA
GO:0005789	Component	Endoplasmic reticulum membrane	IDA	12460457
GO:0005794	Component	Golgi apparatus	IEA
GO:0006505	Process	GPI anchor metabolic process	IMP	17021251
GO:0006506	Process	GPI anchor biosynthetic process	IBA
GO:0006506	Process	GPI anchor biosynthetic process	IEA
GO:0006506	Process	GPI anchor biosynthetic process	IMP	29374258
GO:0016020	Component	Membrane	IEA
GO:0016787	Function	Hydrolase activity	IEA
GO:0016788	Function	Hydrolase activity, acting on ester bonds	IBA
GO:0016788	Function	Hydrolase activity, acting on ester bonds	IMP	17021251

MIM	HGNC	e!Ensembl
611801	23719	ENSG00000161395

Q96FM1

Protein name

GPI-specific phospholipase A2-like PGAP3 (EC 3.1.1.-) (COS16 homolog) (hCOS16) (Gene coamplified with ERBB2 protein) (PER1-like domain-containing protein 1) (Post-GPI attachment to proteins factor 3)

Protein function

Involved in the fatty acid remodeling steps of GPI-anchor maturation where the unsaturated acyl chain at sn-2 of inositol phosphate is replaced by a saturated stearoyl chain (PubMed:17021251, PubMed:24439110). May catalyze the first step of the

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF04080	Per1	54 → 306	Per1-like family	Family

Tissue specificity

TISSUE SPECIFICITY: Ubiquitously expressed, with highest levels in thyroid and placenta. {ECO:0000269|PubMed:12460457}.

Sequence

MAGLAARLVLLAGAAALASGSQGDREPVYRDCVLQCEEQNCSGGALNHFRSRQPIYMSLA
GWTCRDDCKYECMWVTVGLYLQEGHKVPQFHGKWPFSRFLFFQEPASAVASFLNGLASLV
MLCRYRTFVPASSPMYHTCVAFAWVSLNAWFWSTVFHTRDTDLTEKMDYFCASTVILHSI
YLCCVRTVGLQHPAVVSAFRALLLLMLTVHVSYLSLIRFDYGYNLVANVAIGLVNVVWWL
AWCLWNQRRLPHVRKCVVVVLLLQGLSLLELLDFPPLFWVLDAHAIWHISTIPVHVLFFS
FLEDDSLYLLKESEDKFKLD

Sequence length

320

Interactions

View interactions

	KEGG
	Glycosylphosphatidylinositol (GPI)-anchor biosynthesis Metabolic pathways

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 (3)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Hyperphosphatasia with intellectual disability syndrome 4	Pathogenic; Likely pathogenic	rs587777251, rs587777252, rs371549948, rs2057353041, rs2145169684, rs2057353122, rs2543759733, rs869312813, rs869312814, rs869312817, rs200598755, rs869312816, rs869312815, rs869312812, rs202146344 View all (10 more)	RCV000111462 RCV000111464 RCV000111465 RCV001784824 RCV002244257 View all (21 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Hyperphosphatasia-intellectual disability syndrome	Likely pathogenic	rs765928877	RCV003994630	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
PGAP3-related disorder	Likely pathogenic; Pathogenic	rs750093817	RCV003403130	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (13)

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.
ASTHMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BIPOLAR DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOVASCULAR DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHILDHOOD ONSET ASTHMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGESTIVE HEART FAILURE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CROHN'S DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERPHOSPHATASEMIA WITH INTELLECTUAL DISABILITY	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERPHOSPHATASIA WITH IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME 4	—	Disgenet, HPO Disgenet, HPO	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERPHOSPHATASIA WITH MENTAL RETARDATION	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INFLAMMATORY BOWEL DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 1 DIABETES MELLITUS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (63)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Accessory nipple	Accessory Nipple	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	GWASDB_DG	20860503, 21804549		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Asthma	Asthma	BEFREE	22188591, 29307657		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Asthma	Asthma	Pubtator	22188591, 31959860, 32078577	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autistic behavior	Autism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Bipolar Disorder	Bipolar Disorder	GWASCAT_DG	27329760		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Brachycephaly	Brachycephaly	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	15010812		★★★★★ ★☆☆☆☆ Found in Text Mining only
Byzanthine arch palate	High palate	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	20187983	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Class III malocclusion	Malocclusion	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Clinodactyly	Clinodactyly	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Clinodactyly of fingers	Clinodactyly	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital Abnormalities	Congenital abnormalities	Pubtator	36849876	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital diaphragmatic hernia	Congenital diaphragmatic hernia	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital Disorders of Glycosylation	Congenital disorder of glycosylation	BEFREE	24439110		★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital Epicanthus	Congenital Epicanthus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital neurologic anomalies	Drachtman Weinblatt Sitarz syndrome	CLINVAR_DG	30217754		★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital pectus excavatum	Congenital Pectus Excavatum	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Corpus Callosum Agenesis of with Facial Anomalies and Robin Sequence	Corpus callosum agenesis with facial anomalies and robin sequence	Pubtator	29620724	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Corpus Callosum, Agenesis of, with Facial Anomalies and Robin Sequence	Toriello-Carey syndrome	BEFREE	29620724		★★★★★ ★☆☆☆☆ Found in Text Mining only
Crohn Disease	Crohn Disease	BEFREE	26484354		★★★★★ ★☆☆☆☆ Found in Text Mining only
Crohn Disease	Crohn disease	Pubtator	26484354	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Developmental disability	Pubtator	36849876	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Dysmorphic features	Dysmorphic Features	CLINVAR_DG	17314402, 22265715, 24439110, 26077850, 28390064		★★★★★ ★☆☆☆☆ Found in Text Mining only
Esotropia	Esotropia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hirschsprung Disease	Hirschsprung disease	Pubtator	29310717	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hirschsprung Disease	Hirschsprung Disease	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hydronephrosis	Hydronephrosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hyperopia	Hyperopia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hyperphosphatasia with Mental Retardation	Hyperphosphatasia With Mental Retardation	BEFREE	24439110, 27120253, 28390064		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hyperphosphatasia with Mental Retardation	Hyperphosphatasia With Mental Retardation	ORPHANET_DG	24439110		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hyperphosphatasia with Mental Retardation	Hyperphosphatasia with intellectual disability syndrome	Pubtator	30813920	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hyperphosphatasia with Mental Retardation	Hyperphosphatasia With Mental Retardation	CTD_human_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 4	Hyperphosphatasia With Mental Retardation	UNIPROT_DG	24439110		★★★★★ ★☆☆☆☆ Found in Text Mining only
HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 4	Hyperphosphatasia With Mental Retardation	GENOMICS_ENGLAND_DG	24439110		★★★★★ ★☆☆☆☆ Found in Text Mining only
HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 4	Hyperphosphatasia With Mental Retardation	CLINVAR_DG	27120253, 28390064, 30217754		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hyperphosphatasia-intellectual disability syndrome	Hyperphosphatasia With Mental Retardation	Orphanet			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Inflammatory Bowel Diseases	Inflammatory Bowel Disease	BEFREE	26484354		★★★★★ ★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory bowel disease	Pubtator	26484354	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	BEFREE	24439110		★★★★★ ★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Intellectual developmental disorder	Pubtator	27120253, 30813920	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	15010812		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	15010812		★★★★★ ★☆☆☆☆ Found in Text Mining only
Micrognathism	Micrognathism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Moderate intellectual disability	Mental retardation	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Movement Disorders	Movement Disorders	CLINVAR_DG	17314402, 22265715, 24439110, 26077850, 28390064		★★★★★ ★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple sclerosis	Pubtator	36446168	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Oculomotor apraxia	Oculomotor apraxia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Oculovestibuloauditory syndrome	Oculovestibuloauditory Syndrome	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	31917448, 32907841	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Plagiocephaly	Plagiocephaly	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Profound global developmental delay	Developmental Delay	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Scoliosis, unspecified	Scoliosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Severe intellectual disability	Mental retardation	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	15010812		★★★★★ ★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	12460457, 20187983, 37386793	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach Neoplasms	LHGDN	12739007		★★★★★ ★☆☆☆☆ Found in Text Mining only
Tonic - clonic seizures	Seizure	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Uranostaphyloschisis	Uranostaphyloschisis	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only

PGAP3 (post-GPI attachment to proteins phospholipase 3)