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	5296
Gene name	Phosphoinositide-3-kinase regulatory subunit 2
Gene symbol	PIK3R2
Synonyms (NCBI Gene)	MPPHMPPH1P85Bp85p85-BETAp85beta
Chromosome	19
Chromosome location	19p13.11
Summary	Phosphatidylinositol 3-kinase (PI3K) is a lipid kinase that phosphorylates phosphatidylinositol and similar compounds, creating second messengers important in growth signaling pathways. PI3K functions as a heterodimer of a regulatory and a catalytic subun

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SNP ID	Visualize variation	Clinical significance	Consequence
rs372272045	G>C,T	Pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs587776934	G>A	Pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs587777624	T>C	Pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs886041591	A>G	Pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs886041602	A>G	Pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs1057519801	A>G	Likely-pathogenic	Coding sequence variant, missense variant, non coding transcript variant
rs1131691683	C>G	Likely-pathogenic	Coding sequence variant, missense variant, non coding transcript variant
rs1212577459	G>A	Likely-pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs1418268495	C>A,T	Likely-pathogenic	Missense variant, non coding transcript variant, coding sequence variant, stop gained
rs1555815238	A>G	Likely-pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs1568636630	C>G	Likely-pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs1568637223	C>A	Likely-pathogenic	Non coding transcript variant, coding sequence variant, stop gained

474

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miRTarBase ID	miRNA	Experiments	Reference
MIRT003894	hsa-miR-126-3p	Western blot	18663744
MIRT003894	hsa-miR-126-3p	qRT-PCR	18663744
MIRT003894	hsa-miR-126-3p	Luciferase reporter assay	18663744
MIRT003894	hsa-miR-126-3p	Luciferase reporter assay	18663744
MIRT003894	hsa-miR-126-3p	Luciferase reporter assay	18663744
MIRT003894	hsa-miR-126-3p	Review	20029422
MIRT004644	hsa-miR-126-5p	Review	20029422
MIRT003894	hsa-miR-126-3p	Luciferase reporter assayWestern blot	18987025
MIRT003894	hsa-miR-126-3p	Luciferase reporter assayWestern blot	21249429
MIRT007136	hsa-miR-30c-5p	qRT-PCR	23418453
MIRT003894	hsa-miR-126-3p	Reporter assay;Western blot	21249429
MIRT021712	hsa-miR-133a-3p	Reporter assay	21249429
MIRT048832	hsa-miR-93-5p	CLASH	23622248
MIRT038442	hsa-miR-296-3p	CLASH	23622248
MIRT003894	hsa-miR-126-3p	qRT-PCRWestern blot	24969300
MIRT731593	hsa-miR-30d-5p	LacZ reporter assay	27165190
MIRT731593	hsa-miR-30d-5p	LacZ reporter assay	27165190
MIRT003894	hsa-miR-126-3p	ImmunohistochemistryIn situ hybridizationqRT-PCRWestern blot	26381870
MIRT003894	hsa-miR-126-3p	Luciferase reporter assayqRT-PCRWestern blot	27191494
MIRT003894	hsa-miR-126-3p	Luciferase reporter assayqRT-PCRWestern blot	27191494
MIRT003894	hsa-miR-126-3p	Luciferase reporter assayqRT-PCRWestern blot	27191494
MIRT003894	hsa-miR-126-3p	Luciferase reporter assayqRT-PCRWestern blot	27191494
MIRT003894	hsa-miR-126-3p	Luciferase reporter assayqRT-PCRWestern blot	27191494
MIRT003894	hsa-miR-126-3p	Luciferase reporter assayqRT-PCRWestern blot	27191494
MIRT732302	hsa-miR-552-3p	Luciferase reporter assayMicroarrayqRT-PCRWestern blot	26485640
MIRT732302	hsa-miR-552-3p	Luciferase reporter assayMicroarrayqRT-PCRWestern blot	26485640
MIRT003894	hsa-miR-126-3p	ImmunofluorescenceImmunohistochemistry (IHC)Luciferase reporter assayqRT-PCRWestern blotting	33350092
MIRT003894	hsa-miR-126-3p	qRT-PCR	32490599
MIRT004644	hsa-miR-126-5p	Luciferase reporter assayWestern blottingImmunoprecipitaion (IP)Immunohistochemistry (IHC)ImmunofluorescenceqRT-PCR	33098220
MIRT003894	hsa-miR-126-3p	qRT-PCR	32425976
MIRT003894	hsa-miR-126-3p	Luciferase reporter assayWestern blottingImmunohistochemistry (IHC)qRT-PCRIn situ hybridizationFlow cytometry	34107168
MIRT003894	hsa-miR-126-3p	Western blottingImmunoprecipitaion (IP)Immunohistochemistry (IHC)qRT-PCR	31502903
MIRT1234639	hsa-miR-1178	CLIP-seq
MIRT1234640	hsa-miR-1197	CLIP-seq
MIRT1234641	hsa-miR-1207-5p	CLIP-seq
MIRT1234642	hsa-miR-1252	CLIP-seq
MIRT1234643	hsa-miR-1258	CLIP-seq
MIRT1234644	hsa-miR-126	CLIP-seq
MIRT1234645	hsa-miR-1275	CLIP-seq
MIRT1234646	hsa-miR-1277	CLIP-seq
MIRT1234647	hsa-miR-1289	CLIP-seq
MIRT1234648	hsa-miR-1321	CLIP-seq
MIRT1234649	hsa-miR-1343	CLIP-seq
MIRT1234650	hsa-miR-15a	CLIP-seq
MIRT1234651	hsa-miR-15b	CLIP-seq
MIRT1234652	hsa-miR-16	CLIP-seq
MIRT1234653	hsa-miR-185	CLIP-seq
MIRT1234654	hsa-miR-195	CLIP-seq
MIRT1234655	hsa-miR-1976	CLIP-seq
MIRT1234656	hsa-miR-2467-3p	CLIP-seq
MIRT1234657	hsa-miR-2682	CLIP-seq
MIRT1234658	hsa-miR-3074-3p	CLIP-seq
MIRT1234659	hsa-miR-30a	CLIP-seq
MIRT1234660	hsa-miR-30b	CLIP-seq
MIRT1234661	hsa-miR-30c	CLIP-seq
MIRT1234662	hsa-miR-30d	CLIP-seq
MIRT1234663	hsa-miR-30e	CLIP-seq
MIRT1234664	hsa-miR-3117-3p	CLIP-seq
MIRT1234665	hsa-miR-3125	CLIP-seq
MIRT1234666	hsa-miR-3140-5p	CLIP-seq
MIRT1234667	hsa-miR-3144-5p	CLIP-seq
MIRT1234668	hsa-miR-3150b-3p	CLIP-seq
MIRT1234669	hsa-miR-3151	CLIP-seq
MIRT1234670	hsa-miR-3154	CLIP-seq
MIRT1234671	hsa-miR-3179	CLIP-seq
MIRT1234672	hsa-miR-3184	CLIP-seq
MIRT1234673	hsa-miR-3187-3p	CLIP-seq
MIRT1234674	hsa-miR-3198	CLIP-seq
MIRT1234675	hsa-miR-335	CLIP-seq
MIRT1234676	hsa-miR-342-5p	CLIP-seq
MIRT1234677	hsa-miR-34a	CLIP-seq
MIRT1234678	hsa-miR-34c-5p	CLIP-seq
MIRT1234679	hsa-miR-3607-3p	CLIP-seq
MIRT1234680	hsa-miR-3616-3p	CLIP-seq
MIRT1234681	hsa-miR-3649	CLIP-seq
MIRT1234682	hsa-miR-365	CLIP-seq
MIRT1234683	hsa-miR-3655	CLIP-seq
MIRT1234684	hsa-miR-3663-5p	CLIP-seq
MIRT1234685	hsa-miR-3665	CLIP-seq
MIRT1234686	hsa-miR-3667-3p	CLIP-seq
MIRT1234687	hsa-miR-3675-5p	CLIP-seq
MIRT1234688	hsa-miR-3677-3p	CLIP-seq
MIRT1234689	hsa-miR-3678-5p	CLIP-seq
MIRT1234690	hsa-miR-3686	CLIP-seq
MIRT1234691	hsa-miR-369-5p	CLIP-seq
MIRT1234692	hsa-miR-3916	CLIP-seq
MIRT1234693	hsa-miR-3917	CLIP-seq
MIRT1234694	hsa-miR-3919	CLIP-seq
MIRT1234695	hsa-miR-3925-5p	CLIP-seq
MIRT1234696	hsa-miR-3926	CLIP-seq
MIRT1234697	hsa-miR-3935	CLIP-seq
MIRT1234698	hsa-miR-3944-5p	CLIP-seq
MIRT1234699	hsa-miR-3960	CLIP-seq
MIRT1234700	hsa-miR-423-5p	CLIP-seq
MIRT1234701	hsa-miR-424	CLIP-seq
MIRT1234702	hsa-miR-4252	CLIP-seq
MIRT1234703	hsa-miR-4257	CLIP-seq
MIRT1234704	hsa-miR-4258	CLIP-seq
MIRT1234705	hsa-miR-4260	CLIP-seq
MIRT1234706	hsa-miR-4266	CLIP-seq
MIRT1234707	hsa-miR-4267	CLIP-seq
MIRT1234708	hsa-miR-4271	CLIP-seq
MIRT1234709	hsa-miR-4294	CLIP-seq
MIRT1234710	hsa-miR-4302	CLIP-seq
MIRT1234711	hsa-miR-4306	CLIP-seq
MIRT1234712	hsa-miR-4307	CLIP-seq
MIRT1234713	hsa-miR-4309	CLIP-seq
MIRT1234714	hsa-miR-4311	CLIP-seq
MIRT1234715	hsa-miR-4419a	CLIP-seq
MIRT1234716	hsa-miR-4428	CLIP-seq
MIRT1234717	hsa-miR-4434	CLIP-seq
MIRT1234718	hsa-miR-4435	CLIP-seq
MIRT1234719	hsa-miR-4436b-3p	CLIP-seq
MIRT1234720	hsa-miR-4443	CLIP-seq
MIRT1234721	hsa-miR-4447	CLIP-seq
MIRT1234722	hsa-miR-4457	CLIP-seq
MIRT1234723	hsa-miR-4472	CLIP-seq
MIRT1234724	hsa-miR-4497	CLIP-seq
MIRT1234725	hsa-miR-449a	CLIP-seq
MIRT1234726	hsa-miR-449b	CLIP-seq
MIRT1234727	hsa-miR-449c	CLIP-seq
MIRT1234728	hsa-miR-4510	CLIP-seq
MIRT1234729	hsa-miR-4514	CLIP-seq
MIRT1234730	hsa-miR-4516	CLIP-seq
MIRT1234731	hsa-miR-4525	CLIP-seq
MIRT1234732	hsa-miR-4527	CLIP-seq
MIRT1234733	hsa-miR-4531	CLIP-seq
MIRT1234734	hsa-miR-4532	CLIP-seq
MIRT1234735	hsa-miR-4533	CLIP-seq
MIRT1234736	hsa-miR-4640-5p	CLIP-seq
MIRT1234737	hsa-miR-4644	CLIP-seq
MIRT1234738	hsa-miR-4646-3p	CLIP-seq
MIRT1234739	hsa-miR-4651	CLIP-seq
MIRT1234740	hsa-miR-4653-3p	CLIP-seq
MIRT1234741	hsa-miR-4664-5p	CLIP-seq
MIRT1234742	hsa-miR-4665-5p	CLIP-seq
MIRT1234743	hsa-miR-4670-3p	CLIP-seq
MIRT1234744	hsa-miR-4683	CLIP-seq
MIRT1234745	hsa-miR-4685-5p	CLIP-seq
MIRT1234746	hsa-miR-4692	CLIP-seq
MIRT1234747	hsa-miR-4695-5p	CLIP-seq
MIRT1234748	hsa-miR-4701-5p	CLIP-seq
MIRT1234749	hsa-miR-4711-5p	CLIP-seq
MIRT1234750	hsa-miR-4723-5p	CLIP-seq
MIRT1234751	hsa-miR-4725-3p	CLIP-seq
MIRT1234752	hsa-miR-4726-5p	CLIP-seq
MIRT1234753	hsa-miR-4728-5p	CLIP-seq
MIRT1234754	hsa-miR-4736	CLIP-seq
MIRT1234755	hsa-miR-4739	CLIP-seq
MIRT1234756	hsa-miR-4746-3p	CLIP-seq
MIRT1234757	hsa-miR-4747-5p	CLIP-seq
MIRT1234758	hsa-miR-4756-5p	CLIP-seq
MIRT1234759	hsa-miR-4763-3p	CLIP-seq
MIRT1234760	hsa-miR-4772-3p	CLIP-seq
MIRT1234761	hsa-miR-4779	CLIP-seq
MIRT1234762	hsa-miR-4784	CLIP-seq
MIRT1234763	hsa-miR-4802-3p	CLIP-seq
MIRT1234764	hsa-miR-486-3p	CLIP-seq
MIRT1234765	hsa-miR-487a	CLIP-seq
MIRT1234766	hsa-miR-491-5p	CLIP-seq
MIRT1234767	hsa-miR-492	CLIP-seq
MIRT1234768	hsa-miR-497	CLIP-seq
MIRT1234769	hsa-miR-513b	CLIP-seq
MIRT1234770	hsa-miR-516b	CLIP-seq
MIRT1234771	hsa-miR-541	CLIP-seq
MIRT1234772	hsa-miR-548aa	CLIP-seq
MIRT1234773	hsa-miR-548s	CLIP-seq
MIRT1234774	hsa-miR-583	CLIP-seq
MIRT1234775	hsa-miR-588	CLIP-seq
MIRT1234776	hsa-miR-589	CLIP-seq
MIRT1234777	hsa-miR-608	CLIP-seq
MIRT1234778	hsa-miR-625	CLIP-seq
MIRT1234779	hsa-miR-654-5p	CLIP-seq
MIRT1234780	hsa-miR-759	CLIP-seq
MIRT1234781	hsa-miR-764	CLIP-seq
MIRT1234782	hsa-miR-767-3p	CLIP-seq
MIRT1234783	hsa-miR-885-3p	CLIP-seq
MIRT1234784	hsa-miR-891b	CLIP-seq
MIRT1234785	hsa-miR-922	CLIP-seq
MIRT1234639	hsa-miR-1178	CLIP-seq
MIRT1234640	hsa-miR-1197	CLIP-seq
MIRT1234641	hsa-miR-1207-5p	CLIP-seq
MIRT2069060	hsa-miR-122	CLIP-seq
MIRT2069061	hsa-miR-1254	CLIP-seq
MIRT1234644	hsa-miR-126	CLIP-seq
MIRT1234646	hsa-miR-1277	CLIP-seq
MIRT1234647	hsa-miR-1289	CLIP-seq
MIRT2069062	hsa-miR-1323	CLIP-seq
MIRT2069063	hsa-miR-135a	CLIP-seq
MIRT2069064	hsa-miR-135b	CLIP-seq
MIRT1234653	hsa-miR-185	CLIP-seq
MIRT2069065	hsa-miR-1908	CLIP-seq
MIRT2069066	hsa-miR-1915	CLIP-seq
MIRT1234656	hsa-miR-2467-3p	CLIP-seq
MIRT1234657	hsa-miR-2682	CLIP-seq
MIRT2069067	hsa-miR-302a	CLIP-seq
MIRT2069068	hsa-miR-302b	CLIP-seq
MIRT2069069	hsa-miR-302c	CLIP-seq
MIRT2069070	hsa-miR-302d	CLIP-seq
MIRT2069071	hsa-miR-302e	CLIP-seq
MIRT1234658	hsa-miR-3074-3p	CLIP-seq
MIRT1234659	hsa-miR-30a	CLIP-seq
MIRT1234660	hsa-miR-30b	CLIP-seq
MIRT1234661	hsa-miR-30c	CLIP-seq
MIRT1234662	hsa-miR-30d	CLIP-seq
MIRT1234663	hsa-miR-30e	CLIP-seq
MIRT2069072	hsa-miR-3116	CLIP-seq
MIRT1234665	hsa-miR-3125	CLIP-seq
MIRT1234667	hsa-miR-3144-5p	CLIP-seq
MIRT2069073	hsa-miR-3148	CLIP-seq
MIRT1234668	hsa-miR-3150b-3p	CLIP-seq
MIRT1234669	hsa-miR-3151	CLIP-seq
MIRT1234670	hsa-miR-3154	CLIP-seq
MIRT2069074	hsa-miR-3176	CLIP-seq
MIRT1234671	hsa-miR-3179	CLIP-seq
MIRT2069075	hsa-miR-3180	CLIP-seq
MIRT2069076	hsa-miR-3180-3p	CLIP-seq
MIRT1234673	hsa-miR-3187-3p	CLIP-seq
MIRT2069077	hsa-miR-3196	CLIP-seq
MIRT1234674	hsa-miR-3198	CLIP-seq
MIRT1234675	hsa-miR-335	CLIP-seq
MIRT1234677	hsa-miR-34a	CLIP-seq
MIRT1234678	hsa-miR-34c-5p	CLIP-seq
MIRT1234679	hsa-miR-3607-3p	CLIP-seq
MIRT1234680	hsa-miR-3616-3p	CLIP-seq
MIRT2069078	hsa-miR-3621	CLIP-seq
MIRT1234681	hsa-miR-3649	CLIP-seq
MIRT1234682	hsa-miR-365	CLIP-seq
MIRT1234683	hsa-miR-3655	CLIP-seq
MIRT1234685	hsa-miR-3665	CLIP-seq
MIRT1234688	hsa-miR-3677-3p	CLIP-seq
MIRT1234689	hsa-miR-3678-5p	CLIP-seq
MIRT1234690	hsa-miR-3686	CLIP-seq
MIRT2069079	hsa-miR-371b-5p	CLIP-seq
MIRT2069080	hsa-miR-372	CLIP-seq
MIRT2069081	hsa-miR-373	CLIP-seq
MIRT2069082	hsa-miR-384	CLIP-seq
MIRT1234692	hsa-miR-3916	CLIP-seq
MIRT2069083	hsa-miR-3922-3p	CLIP-seq
MIRT1234695	hsa-miR-3925-5p	CLIP-seq
MIRT1234696	hsa-miR-3926	CLIP-seq
MIRT1234697	hsa-miR-3935	CLIP-seq
MIRT2069084	hsa-miR-3937	CLIP-seq
MIRT1234698	hsa-miR-3944-5p	CLIP-seq
MIRT1234704	hsa-miR-4258	CLIP-seq
MIRT1234705	hsa-miR-4260	CLIP-seq
MIRT2069085	hsa-miR-4265	CLIP-seq
MIRT1234706	hsa-miR-4266	CLIP-seq
MIRT1234707	hsa-miR-4267	CLIP-seq
MIRT1234708	hsa-miR-4271	CLIP-seq
MIRT2069086	hsa-miR-4281	CLIP-seq
MIRT1234709	hsa-miR-4294	CLIP-seq
MIRT2069087	hsa-miR-4296	CLIP-seq
MIRT1234710	hsa-miR-4302	CLIP-seq
MIRT1234711	hsa-miR-4306	CLIP-seq
MIRT1234712	hsa-miR-4307	CLIP-seq
MIRT1234713	hsa-miR-4309	CLIP-seq
MIRT2069088	hsa-miR-4322	CLIP-seq
MIRT1234718	hsa-miR-4435	CLIP-seq
MIRT1234719	hsa-miR-4436b-3p	CLIP-seq
MIRT2069089	hsa-miR-4438	CLIP-seq
MIRT1234720	hsa-miR-4443	CLIP-seq
MIRT1234721	hsa-miR-4447	CLIP-seq
MIRT1234723	hsa-miR-4472	CLIP-seq
MIRT2069090	hsa-miR-4482	CLIP-seq
MIRT1234725	hsa-miR-449a	CLIP-seq
MIRT1234726	hsa-miR-449b	CLIP-seq
MIRT1234727	hsa-miR-449c	CLIP-seq
MIRT2069091	hsa-miR-4505	CLIP-seq
MIRT2069092	hsa-miR-450b-5p	CLIP-seq
MIRT1234729	hsa-miR-4514	CLIP-seq
MIRT1234737	hsa-miR-4644	CLIP-seq
MIRT1234738	hsa-miR-4646-3p	CLIP-seq
MIRT2069093	hsa-miR-4659a-5p	CLIP-seq
MIRT2069094	hsa-miR-4659b-5p	CLIP-seq
MIRT2069095	hsa-miR-4679	CLIP-seq
MIRT1234745	hsa-miR-4685-5p	CLIP-seq
MIRT2069096	hsa-miR-4690-3p	CLIP-seq
MIRT1234746	hsa-miR-4692	CLIP-seq
MIRT1234747	hsa-miR-4695-5p	CLIP-seq
MIRT1234748	hsa-miR-4701-5p	CLIP-seq
MIRT1234751	hsa-miR-4725-3p	CLIP-seq
MIRT2069097	hsa-miR-4726-3p	CLIP-seq
MIRT2069098	hsa-miR-4731-5p	CLIP-seq
MIRT1234754	hsa-miR-4736	CLIP-seq
MIRT1234756	hsa-miR-4746-3p	CLIP-seq
MIRT2069099	hsa-miR-4755-3p	CLIP-seq
MIRT2069100	hsa-miR-4757-5p	CLIP-seq
MIRT1234759	hsa-miR-4763-3p	CLIP-seq
MIRT2069101	hsa-miR-4776-3p	CLIP-seq
MIRT1234761	hsa-miR-4779	CLIP-seq
MIRT2069102	hsa-miR-4783-3p	CLIP-seq
MIRT1234762	hsa-miR-4784	CLIP-seq
MIRT1234763	hsa-miR-4802-3p	CLIP-seq
MIRT1234764	hsa-miR-486-3p	CLIP-seq
MIRT1234765	hsa-miR-487a	CLIP-seq
MIRT1234766	hsa-miR-491-5p	CLIP-seq
MIRT1234767	hsa-miR-492	CLIP-seq
MIRT2069103	hsa-miR-507	CLIP-seq
MIRT2069104	hsa-miR-5095	CLIP-seq
MIRT2069105	hsa-miR-512-3p	CLIP-seq
MIRT2069106	hsa-miR-520a-3p	CLIP-seq
MIRT2069107	hsa-miR-520b	CLIP-seq
MIRT2069108	hsa-miR-520c-3p	CLIP-seq
MIRT2069109	hsa-miR-520d-3p	CLIP-seq
MIRT2069110	hsa-miR-520e	CLIP-seq
MIRT1234771	hsa-miR-541	CLIP-seq
MIRT1234772	hsa-miR-548aa	CLIP-seq
MIRT2069111	hsa-miR-548c-3p	CLIP-seq
MIRT2069112	hsa-miR-548o	CLIP-seq
MIRT1234773	hsa-miR-548s	CLIP-seq
MIRT2069113	hsa-miR-550a	CLIP-seq
MIRT2069114	hsa-miR-557	CLIP-seq
MIRT1234774	hsa-miR-583	CLIP-seq
MIRT1234775	hsa-miR-588	CLIP-seq
MIRT1234776	hsa-miR-589	CLIP-seq
MIRT1234779	hsa-miR-654-5p	CLIP-seq
MIRT2069115	hsa-miR-661	CLIP-seq
MIRT2069116	hsa-miR-663	CLIP-seq
MIRT1234781	hsa-miR-764	CLIP-seq
MIRT1234782	hsa-miR-767-3p	CLIP-seq
MIRT1234783	hsa-miR-885-3p	CLIP-seq
MIRT2069117	hsa-miR-944	CLIP-seq
MIRT1234639	hsa-miR-1178	CLIP-seq
MIRT1234640	hsa-miR-1197	CLIP-seq
MIRT1234641	hsa-miR-1207-5p	CLIP-seq
MIRT1234645	hsa-miR-1275	CLIP-seq
MIRT1234646	hsa-miR-1277	CLIP-seq
MIRT1234648	hsa-miR-1321	CLIP-seq
MIRT2069063	hsa-miR-135a	CLIP-seq
MIRT2069064	hsa-miR-135b	CLIP-seq
MIRT2296084	hsa-miR-146b-3p	CLIP-seq
MIRT1234650	hsa-miR-15a	CLIP-seq
MIRT1234651	hsa-miR-15b	CLIP-seq
MIRT1234652	hsa-miR-16	CLIP-seq
MIRT1234653	hsa-miR-185	CLIP-seq
MIRT2069066	hsa-miR-1915	CLIP-seq
MIRT1234654	hsa-miR-195	CLIP-seq
MIRT1234656	hsa-miR-2467-3p	CLIP-seq
MIRT1234657	hsa-miR-2682	CLIP-seq
MIRT2296085	hsa-miR-3074-5p	CLIP-seq
MIRT1234659	hsa-miR-30a	CLIP-seq
MIRT1234660	hsa-miR-30b	CLIP-seq
MIRT1234661	hsa-miR-30c	CLIP-seq
MIRT1234662	hsa-miR-30d	CLIP-seq
MIRT1234663	hsa-miR-30e	CLIP-seq
MIRT1234666	hsa-miR-3140-5p	CLIP-seq
MIRT1234667	hsa-miR-3144-5p	CLIP-seq
MIRT1234669	hsa-miR-3151	CLIP-seq
MIRT1234670	hsa-miR-3154	CLIP-seq
MIRT2296086	hsa-miR-3173-5p	CLIP-seq
MIRT1234671	hsa-miR-3179	CLIP-seq
MIRT1234672	hsa-miR-3184	CLIP-seq
MIRT1234673	hsa-miR-3187-3p	CLIP-seq
MIRT1234677	hsa-miR-34a	CLIP-seq
MIRT1234678	hsa-miR-34c-5p	CLIP-seq
MIRT1234679	hsa-miR-3607-3p	CLIP-seq
MIRT1234680	hsa-miR-3616-3p	CLIP-seq
MIRT1234681	hsa-miR-3649	CLIP-seq
MIRT1234682	hsa-miR-365	CLIP-seq
MIRT1234685	hsa-miR-3665	CLIP-seq
MIRT1234686	hsa-miR-3667-3p	CLIP-seq
MIRT1234690	hsa-miR-3686	CLIP-seq
MIRT2069082	hsa-miR-384	CLIP-seq
MIRT1234693	hsa-miR-3917	CLIP-seq
MIRT1234696	hsa-miR-3926	CLIP-seq
MIRT1234697	hsa-miR-3935	CLIP-seq
MIRT1234698	hsa-miR-3944-5p	CLIP-seq
MIRT1234699	hsa-miR-3960	CLIP-seq
MIRT2296087	hsa-miR-411	CLIP-seq
MIRT1234700	hsa-miR-423-5p	CLIP-seq
MIRT1234701	hsa-miR-424	CLIP-seq
MIRT1234702	hsa-miR-4252	CLIP-seq
MIRT1234703	hsa-miR-4257	CLIP-seq
MIRT1234704	hsa-miR-4258	CLIP-seq
MIRT1234705	hsa-miR-4260	CLIP-seq
MIRT1234706	hsa-miR-4266	CLIP-seq
MIRT1234707	hsa-miR-4267	CLIP-seq
MIRT2296088	hsa-miR-4300	CLIP-seq
MIRT1234710	hsa-miR-4302	CLIP-seq
MIRT1234711	hsa-miR-4306	CLIP-seq
MIRT1234715	hsa-miR-4419a	CLIP-seq
MIRT1234718	hsa-miR-4435	CLIP-seq
MIRT1234719	hsa-miR-4436b-3p	CLIP-seq
MIRT1234721	hsa-miR-4447	CLIP-seq
MIRT1234722	hsa-miR-4457	CLIP-seq
MIRT1234723	hsa-miR-4472	CLIP-seq
MIRT1234724	hsa-miR-4497	CLIP-seq
MIRT1234725	hsa-miR-449a	CLIP-seq
MIRT1234726	hsa-miR-449b	CLIP-seq
MIRT1234727	hsa-miR-449c	CLIP-seq
MIRT1234728	hsa-miR-4510	CLIP-seq
MIRT1234729	hsa-miR-4514	CLIP-seq
MIRT1234731	hsa-miR-4525	CLIP-seq
MIRT1234734	hsa-miR-4532	CLIP-seq
MIRT1234736	hsa-miR-4640-5p	CLIP-seq
MIRT1234737	hsa-miR-4644	CLIP-seq
MIRT1234742	hsa-miR-4665-5p	CLIP-seq
MIRT1234743	hsa-miR-4670-3p	CLIP-seq
MIRT2069095	hsa-miR-4679	CLIP-seq
MIRT2069096	hsa-miR-4690-3p	CLIP-seq
MIRT1234746	hsa-miR-4692	CLIP-seq
MIRT1234747	hsa-miR-4695-5p	CLIP-seq
MIRT1234748	hsa-miR-4701-5p	CLIP-seq
MIRT1234749	hsa-miR-4711-5p	CLIP-seq
MIRT2296089	hsa-miR-4712-5p	CLIP-seq
MIRT2296090	hsa-miR-4722-3p	CLIP-seq
MIRT1234750	hsa-miR-4723-5p	CLIP-seq
MIRT2069097	hsa-miR-4726-3p	CLIP-seq
MIRT1234752	hsa-miR-4726-5p	CLIP-seq
MIRT1234753	hsa-miR-4728-5p	CLIP-seq
MIRT2296091	hsa-miR-4732-3p	CLIP-seq
MIRT1234754	hsa-miR-4736	CLIP-seq
MIRT1234755	hsa-miR-4739	CLIP-seq
MIRT1234756	hsa-miR-4746-3p	CLIP-seq
MIRT1234758	hsa-miR-4756-5p	CLIP-seq
MIRT1234759	hsa-miR-4763-3p	CLIP-seq
MIRT1234761	hsa-miR-4779	CLIP-seq
MIRT1234766	hsa-miR-491-5p	CLIP-seq
MIRT1234767	hsa-miR-492	CLIP-seq
MIRT1234768	hsa-miR-497	CLIP-seq
MIRT1234769	hsa-miR-513b	CLIP-seq
MIRT2296092	hsa-miR-539	CLIP-seq
MIRT1234771	hsa-miR-541	CLIP-seq
MIRT1234773	hsa-miR-548s	CLIP-seq
MIRT1234774	hsa-miR-583	CLIP-seq
MIRT1234775	hsa-miR-588	CLIP-seq
MIRT1234778	hsa-miR-625	CLIP-seq
MIRT1234779	hsa-miR-654-5p	CLIP-seq
MIRT1234780	hsa-miR-759	CLIP-seq
MIRT1234781	hsa-miR-764	CLIP-seq
MIRT1234782	hsa-miR-767-3p	CLIP-seq
MIRT2296093	hsa-miR-770-5p	CLIP-seq
MIRT2296094	hsa-miR-874	CLIP-seq
MIRT1234784	hsa-miR-891b	CLIP-seq
MIRT2296095	hsa-miR-920	CLIP-seq
MIRT1234785	hsa-miR-922	CLIP-seq
MIRT2296096	hsa-miR-939	CLIP-seq
MIRT1234639	hsa-miR-1178	CLIP-seq
MIRT1234640	hsa-miR-1197	CLIP-seq
MIRT1234641	hsa-miR-1207-5p	CLIP-seq
MIRT2069060	hsa-miR-122	CLIP-seq
MIRT1234646	hsa-miR-1277	CLIP-seq
MIRT1234653	hsa-miR-185	CLIP-seq
MIRT2069066	hsa-miR-1915	CLIP-seq
MIRT1234659	hsa-miR-30a	CLIP-seq
MIRT1234660	hsa-miR-30b	CLIP-seq
MIRT1234661	hsa-miR-30c	CLIP-seq
MIRT1234662	hsa-miR-30d	CLIP-seq
MIRT1234663	hsa-miR-30e	CLIP-seq
MIRT1234679	hsa-miR-3607-3p	CLIP-seq
MIRT1234680	hsa-miR-3616-3p	CLIP-seq
MIRT1234682	hsa-miR-365	CLIP-seq
MIRT1234685	hsa-miR-3665	CLIP-seq
MIRT1234690	hsa-miR-3686	CLIP-seq
MIRT1234697	hsa-miR-3935	CLIP-seq
MIRT1234698	hsa-miR-3944-5p	CLIP-seq
MIRT1234711	hsa-miR-4306	CLIP-seq
MIRT2069090	hsa-miR-4482	CLIP-seq
MIRT1234737	hsa-miR-4644	CLIP-seq
MIRT2069096	hsa-miR-4690-3p	CLIP-seq
MIRT1234754	hsa-miR-4736	CLIP-seq
MIRT1234759	hsa-miR-4763-3p	CLIP-seq
MIRT1234760	hsa-miR-4772-3p	CLIP-seq
MIRT1234780	hsa-miR-759	CLIP-seq
MIRT1234781	hsa-miR-764	CLIP-seq
MIRT1234782	hsa-miR-767-3p	CLIP-seq
MIRT1234785	hsa-miR-922	CLIP-seq
MIRT1234649	hsa-miR-1343	CLIP-seq
MIRT1234655	hsa-miR-1976	CLIP-seq
MIRT1234675	hsa-miR-335	CLIP-seq
MIRT1234649	hsa-miR-1343	CLIP-seq
MIRT1234655	hsa-miR-1976	CLIP-seq
MIRT1234675	hsa-miR-335	CLIP-seq

Show/Hide all (45)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001678	Process	Intracellular glucose homeostasis	IEA
GO:0001678	Process	Intracellular glucose homeostasis	ISS
GO:0001784	Function	Phosphotyrosine residue binding	IEA
GO:0001784	Function	Phosphotyrosine residue binding	IPI	20624904
GO:0005096	Function	GTPase activator activity	IEA
GO:0005515	Function	Protein binding	IPI	1330535, 7537096, 7541045, 16273093, 16963558, 17500595, 19380743, 20936779, 21516116, 21706016, 22402981, 22810585, 23604317, 23853584, 24189400, 24658140, 24728074, 25253337, 25416956, 25814554, 26496610, 28169297, 28514442, 29892012, 31515488, 31980649, 32707033, 32814053, 339617
GO:0005634	Component	Nucleus	IEA
GO:0005634	Component	Nucleus	ISS
GO:0005829	Component	Cytosol	IEA
GO:0005829	Component	Cytosol	TAS
GO:0005925	Component	Focal adhesion	IEA
GO:0005943	Component	Phosphatidylinositol 3-kinase complex, class IA	IBA
GO:0005943	Component	Phosphatidylinositol 3-kinase complex, class IA	IEA
GO:0005943	Component	Phosphatidylinositol 3-kinase complex, class IA	IPI	22402981
GO:0005943	Component	Phosphatidylinositol 3-kinase complex, class IA	NAS	20379207
GO:0006955	Process	Immune response	NAS	27616589
GO:0007165	Process	Signal transduction	IEA
GO:0008286	Process	Insulin receptor signaling pathway	IBA
GO:0008286	Process	Insulin receptor signaling pathway	IEA
GO:0010506	Process	Regulation of autophagy	IMP	23604317
GO:0015031	Process	Protein transport	IEA
GO:0019903	Function	Protein phosphatase binding	IEA
GO:0019903	Function	Protein phosphatase binding	IPI	23604317
GO:0030183	Process	B cell differentiation	NAS	20200404
GO:0030217	Process	T cell differentiation	NAS	17371229
GO:0030833	Process	Regulation of actin filament polymerization	IEA
GO:0030971	Function	Receptor tyrosine kinase binding	IPI	10627473
GO:0032869	Process	Cellular response to insulin stimulus	IEA
GO:0032869	Process	Cellular response to insulin stimulus	ISS
GO:0034976	Process	Response to endoplasmic reticulum stress	IEA
GO:0034976	Process	Response to endoplasmic reticulum stress	ISS
GO:0036312	Function	Phosphatidylinositol 3-kinase regulatory subunit binding	IEA
GO:0042307	Process	Positive regulation of protein import into nucleus	IEA
GO:0042307	Process	Positive regulation of protein import into nucleus	ISS
GO:0043409	Process	Negative regulation of MAPK cascade	IMP	18694566
GO:0043491	Process	Phosphatidylinositol 3-kinase/protein kinase B signal transduction	IDA	23604317
GO:0043491	Process	Phosphatidylinositol 3-kinase/protein kinase B signal transduction	IEA
GO:0045785	Process	Positive regulation of cell adhesion	IEA
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IEA
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	ISS
GO:0046935	Function	1-phosphatidylinositol-3-kinase regulator activity	IBA
GO:0046982	Function	Protein heterodimerization activity	IEA
GO:0046982	Function	Protein heterodimerization activity	ISS
GO:0051492	Process	Regulation of stress fiber assembly	IEA
GO:1903076	Process	Regulation of protein localization to plasma membrane	IEA

MIM	HGNC	e!Ensembl
603157	8980	ENSG00000105647

O00459

Protein name

Phosphatidylinositol 3-kinase regulatory subunit beta (PI3-kinase regulatory subunit beta) (PI3K regulatory subunit beta) (PtdIns-3-kinase regulatory subunit beta) (Phosphatidylinositol 3-kinase 85 kDa regulatory subunit beta) (PI3-kinase subunit p85-beta

Protein function

Regulatory subunit of phosphoinositide-3-kinase (PI3K), a kinase that phosphorylates PtdIns(4,5)P2 (Phosphatidylinositol 4,5-bisphosphate) to generate phosphatidylinositol 3,4,5-trisphosphate (PIP3). PIP3 plays a key role by recruiting PH domain

PDB

2KT1 , 2XS6 , 3MTT , 3O5Z , 6OX7 , 6U28 , 7RCH , 7RNU

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00620	RhoGAP	125 → 263	RhoGAP domain	Domain
PF00017	SH2	330 → 405	SH2 domain	Domain
PF16454	PI3K_P85_iSH2	428 → 596	Phosphatidylinositol 3-kinase regulatory subunit P85 inter-SH2 domain	Domain
PF00017	SH2	622 → 696	SH2 domain	Domain

Sequence

MAGPEGFQYRALYPFRRERPEDLELLPGDVLVVSRAALQALGVAEGGERCPQSVGWMPGL
NERTRQRGDFPGTYVEFLGPVALARPGPRPRGPRPLPARPRDGAPEPGLTLPDLPEQFSP
PDVAPPLLVKLVEAIERTGLDSESHYRPELPAPRTDWSLSDVDQWDTAALADGIKSFLLA
LPAPLVTPEASAEARRALREAAGPVGPALEPPTLPLHRALTLRFLLQHLGRVASRAPALG
PAVRALGATFGPLLLRAPPPPSSPPPGGAPDGSEPSPDFPALLVEKLLQEHLEEQEVAPP
ALPPKPPKAKPASTVLANGGSPPSLQDAEWYWGDISREEVNEKLRDTPDGTFLVRDASSK
IQGEYTLTLRKGGNNKLIKVFHRDGHYGFSEPLTFCSVVDLINHYRHESLAQYNAKLDTR
LLYPVSKYQQDQIVKEDSVEAVGAQLKVYHQQYQDKSREYDQLYEEYTRTSQELQMKRTA
IEAFNETIKIFEEQGQTQEKCSKEYLERFRREGNEKEMQRILLNSERLKSRIAEIHESRT
KLEQQLRAQASDNREIDKRMNSLKPDLMQLRKIRDQYLVWLTQKGARQKKINEWLGIKNE
TEDQYALMEDEDDLPHHEERTWYVGKINRTQAEEMLSGKRDGTFLIRESSQRGCYACSVV
VDGDTKHCVIYRTATGFGFAEPYNLYGSLKELVLHYQHASLVQHNDALTVTLAHPVRAPG
PGPPPAAR

Sequence length

728

Interactions

View interactions

	KEGG		Reactome
	EGFR tyrosine kinase inhibitor resistance Endocrine resistance Platinum drug resistance ErbB signaling pathway Ras signaling pathway Rap1 signaling pathway cAMP signaling pathway Chemokine signaling pathway HIF-1 signaling pathway FoxO signaling pathway Phosphatidylinositol signaling system Sphingolipid signaling pathway Phospholipase D signaling pathway Hormone signaling Autophagy - animal mTOR signaling pathway PI3K-Akt signaling pathway AMPK signaling pathway Apoptosis Longevity regulating pathway Longevity regulating pathway - multiple species Cellular senescence Axon guidance VEGF signaling pathway Osteoclast differentiation Focal adhesion Signaling pathways regulating pluripotency of stem cells Platelet activation Neutrophil extracellular trap formation Toll-like receptor signaling pathway C-type lectin receptor signaling pathway JAK-STAT signaling pathway Natural killer cell mediated cytotoxicity T cell receptor signaling pathway B cell receptor signaling pathway Fc epsilon RI signaling pathway Fc gamma R-mediated phagocytosis TNF signaling pathway Leukocyte transendothelial migration Neurotrophin signaling pathway Cholinergic synapse Inflammatory mediator regulation of TRP channels Regulation of actin cytoskeleton Insulin signaling pathway Progesterone-mediated oocyte maturation Estrogen signaling pathway Prolactin signaling pathway Thyroid hormone signaling pathway Regulation of lipolysis in adipocytes Relaxin signaling pathway GnRH secretion Type II diabetes mellitus Insulin resistance Non-alcoholic fatty liver disease AGE-RAGE signaling pathway in diabetic complications Growth hormone synthesis, secretion and action Aldosterone-regulated sodium reabsorption Carbohydrate digestion and absorption Alzheimer disease Spinocerebellar ataxia Prion disease Bacterial invasion of epithelial cells Shigellosis Yersinia infection Chagas disease Amoebiasis Hepatitis C Hepatitis B Measles Human cytomegalovirus infection Influenza A Human papillomavirus infection Human T-cell leukemia virus 1 infection Kaposi sarcoma-associated herpesvirus infection Herpes simplex virus 1 infection Epstein-Barr virus infection Human immunodeficiency virus 1 infection Coronavirus disease - COVID-19 Pathways in cancer Viral carcinogenesis Proteoglycans in cancer MicroRNAs in cancer Chemical carcinogenesis - receptor activation Chemical carcinogenesis - reactive oxygen species Colorectal cancer Renal cell carcinoma Pancreatic cancer Endometrial cancer Glioma Prostate cancer Melanoma Chronic myeloid leukemia Acute myeloid leukemia Small cell lung cancer Non-small cell lung cancer Breast cancer Hepatocellular carcinoma Gastric cancer Central carbon metabolism in cancer Choline metabolism in cancer PD-L1 expression and PD-1 checkpoint pathway in cancer Diabetic cardiomyopathy Lipid and atherosclerosis Fluid shear stress and atherosclerosis		PI3K Cascade IRS-mediated signalling GPVI-mediated activation cascade PIP3 activates AKT signaling Interleukin-7 signaling Signaling by SCF-KIT Synthesis of PIPs at the plasma membrane Downstream signal transduction Rho GTPase cycle PI3K/AKT activation Downstream TCR signaling Role of phospholipids in phagocytosis Tie2 Signaling Constitutive Signaling by Aberrant PI3K in Cancer DAP12 signaling Role of LAT2/NTAL/LAB on calcium mobilization Costimulation by the CD28 family CD28 dependent PI3K/Akt signaling G alpha (q) signalling events VEGFA-VEGFR2 Pathway Interleukin-3, Interleukin-5 and GM-CSF signaling PI5P, PP2A and IER3 Regulate PI3K/AKT Signaling RET signaling Extra-nuclear estrogen signaling Interleukin receptor SHC signaling Regulation of signaling by CBL Signaling by PDGFRA transmembrane, juxtamembrane and kinase domain mutants Signaling by PDGFRA extracellular domain mutants

355

Show/Hide Causal Diseases (7)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Intellectual disability	Pathogenic	rs587776934	RCV001526656
Megalencephaly-capillary malformation-polymicrogyria syndrome	Pathogenic	rs587776934	RCV000416575
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1	Pathogenic; Likely pathogenic	rs587777624, rs886041591, rs1057519801, rs587776934, rs1568636630, rs2043757489, rs2043767578	RCV000133505 RCV003236667 RCV002250624 RCV000033029 RCV000767347 RCV001254099 RCV001289463
Multiple myeloma	Likely pathogenic	rs1418268495, rs1212577459	RCV000984100 RCV000984112
Overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes	Pathogenic	rs587776934	RCV001836718
PIK3R2-related disorder	Likely pathogenic; Pathogenic	rs372272045, rs886041591, rs587776934	RCV003407833 RCV005250045 RCV003914893
Seizure	Likely pathogenic; Pathogenic	rs372272045, rs886041591, rs587776934	RCV001849843 RCV001849360 RCV001849288

Show/Hide Unknown Diseases (3)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Melanoma	Benign; Likely benign	rs147990742	RCV005897262
Overgrowth syndrome	Uncertain significance	rs781265051	RCV003458279
Overgrowth syndrome and/or cerebral malformations	Conflicting classifications of pathogenicity	rs1131691683	RCV005863846

Show/Hide Text Mining Associations (56)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Adenocarcinoma of Lung	Associate	32395869
Agenesis of Corpus Callosum	Associate	26860062
Alzheimer Disease	Associate	22044025
Anemia Aplastic	Associate	26354756
Arthritis Rheumatoid	Associate	27729613, 37904709
Band Heterotopia of Brain	Associate	24497998
Brain Diseases	Associate	26520804
Breast Neoplasms	Associate	25098276
Carcinogenesis	Associate	36857183
Carcinoma Hepatocellular	Associate	38059827
Carnitine Palmitoyltransferase II Deficiency Infantile	Associate	28566443
Cell Transformation Neoplastic	Associate	32385243
Central Nervous System Vascular Malformations	Associate	35997716
Colonic Neoplasms	Stimulate	18663744
Colorectal Neoplasms	Associate	36499586, 40082818
Diabetes Gestational	Associate	24507683
Diabetes Mellitus	Associate	38241313
Diabetes Mellitus Type 2	Associate	28012244, 28934129, 33902539
Drug Related Side Effects and Adverse Reactions	Stimulate	15939500
Endometrial Neoplasms	Associate	21984976, 31880826
Epilepsy	Associate	32155459, 33818783
Esophageal Squamous Cell Carcinoma	Associate	26191164
Focal Cortical Dysplasia	Associate	26860062
Glioblastoma	Associate	14655756, 25502460, 35637600, 40504311
Glucosephosphate Dehydrogenase Deficiency	Associate	26366417
Hepatitis C	Associate	33785040
HIV Infections	Associate	16045742
Hydrocephalus	Associate	40603987
Hyperglycinemia Nonketotic	Associate	28566443
Hypoxia	Inhibit	17600131
Ichthyosis X Linked	Associate	30816547
Idiopathic Pulmonary Fibrosis	Stimulate	38203769
Insulin Resistance	Associate	37399741
Leukemia Lymphocytic Chronic B Cell	Associate	26517243
Lewy Body Disease	Associate	31666070
Lung Neoplasms	Associate	30008631, 34107168, 35910766
Malformations of Cortical Development	Associate	26860062
Megalancephaly Polymicrogyria Polydactyly Hydrocephalus Syndrome	Associate	22729224, 26860062
Megalencephaly	Associate	22729224, 24497998, 24939587, 26860062, 28086757, 33818783, 34170046
Melanoma Cutaneous Malignant	Associate	33082316, 37401304
Multiple Myeloma	Associate	19286672
Multiple Sclerosis	Associate	34284104
Neoplasm Metastasis	Associate	26677064, 32298965, 32395869
Neoplasms	Associate	11123431, 15939500, 32298965, 32385243, 33432021, 36857183, 37460928, 40504311
Obesity	Associate	33902539, 37399741
Ovarian Neoplasms	Associate	32385243, 33432021
Perisylvian syndrome	Associate	26520804, 26860062, 33818783
Polycystic Ovary Syndrome	Associate	26373822
Polydactyly	Associate	28086757
Polymicrogyria	Associate	26520804, 26860062, 33818783, 37486637
Pre Eclampsia	Associate	35588255
Prostatic Neoplasms	Associate	26677064
Pulmonary Disease Chronic Obstructive	Associate	38178680
Sarcoma Kaposi	Associate	27191494
Simpson Golabi Behmel syndrome	Associate	28502725, 32500425
Syndactyly	Associate	28086757

PIK3R2 (phosphoinositide-3-kinase regulatory subunit 2)