PPP2R1A (protein phosphatase 2 scaffold subunit Aalpha)

Gene

• Entrez ID: 5518
• Gene name: Protein phosphatase 2 scaffold subunit Aalpha
• Gene symbol: PPP2R1A
• Synonyms (NCBI Gene): HJS2, MRD36, PP2A-Aalpha, PP2AA, PP2AAALPHA, PR65A
• Chromosome: 19
• Chromosome location: 19q13.41
• Summary: This gene encodes a constant regulatory subunit of protein phosphatase 2. Protein phosphatase 2 is one of the four major Ser/Thr phosphatases, and it is implicated in the negative control of cell growth and division. It consists of a common heteromeric co

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs786205227	C>T	Pathogenic-likely-pathogenic, pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs786205228	C>G,T	Likely-pathogenic, pathogenic	Missense variant, 5 prime UTR variant, coding sequence variant, non coding transcript variant
rs863225094	G>A	Pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs1057519946	C>G,T	Likely-pathogenic	Coding sequence variant, missense variant, non coding transcript variant
rs1057519947	G>A	Likely-pathogenic	Coding sequence variant, missense variant, non coding transcript variant
rs1555791268	C>T	Uncertain-significance, likely-pathogenic	Non coding transcript variant, coding sequence variant, missense variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT031709	hsa-miR-16-5p	Proteomics	18668040
MIRT051517	hsa-let-7e-5p	CLASH	23622248
MIRT050961	hsa-miR-17-5p	CLASH	23622248
MIRT050575	hsa-miR-20a-5p	CLASH	23622248
MIRT050575	hsa-miR-20a-5p	CLASH	23622248
MIRT049765	hsa-miR-92a-3p	CLASH	23622248
MIRT048343	hsa-miR-106a-5p	CLASH	23622248
MIRT046765	hsa-miR-222-3p	CLASH	23622248
MIRT037954	hsa-miR-505-5p	CLASH	23622248
MIRT036561	hsa-miR-941	CLASH	23622248
MIRT639556	hsa-miR-590-3p	HITS-CLIP	23824327
MIRT639555	hsa-miR-1279	HITS-CLIP	23824327
MIRT639554	hsa-miR-4735-5p	HITS-CLIP	23824327
MIRT639553	hsa-miR-4775	HITS-CLIP	23824327
MIRT639552	hsa-miR-5007-3p	HITS-CLIP	23824327
MIRT639551	hsa-miR-335-3p	HITS-CLIP	23824327
MIRT639556	hsa-miR-590-3p	HITS-CLIP	23824327
MIRT639555	hsa-miR-1279	HITS-CLIP	23824327
MIRT639554	hsa-miR-4735-5p	HITS-CLIP	23824327
MIRT639553	hsa-miR-4775	HITS-CLIP	23824327
MIRT639552	hsa-miR-5007-3p	HITS-CLIP	23824327
MIRT639551	hsa-miR-335-3p	HITS-CLIP	23824327
MIRT1257294	hsa-miR-1275	CLIP-seq
MIRT1257295	hsa-miR-150	CLIP-seq
MIRT1257296	hsa-miR-1915	CLIP-seq
MIRT1257297	hsa-miR-2277-3p	CLIP-seq
MIRT1257298	hsa-miR-2861	CLIP-seq
MIRT1257299	hsa-miR-3120-3p	CLIP-seq
MIRT1257300	hsa-miR-3127-3p	CLIP-seq
MIRT1257301	hsa-miR-3150a-3p	CLIP-seq
MIRT1257302	hsa-miR-3175	CLIP-seq
MIRT1257303	hsa-miR-3179	CLIP-seq
MIRT1257304	hsa-miR-3202	CLIP-seq
MIRT1257305	hsa-miR-3667-3p	CLIP-seq
MIRT1257306	hsa-miR-3914	CLIP-seq
MIRT1257307	hsa-miR-3928	CLIP-seq
MIRT1257308	hsa-miR-3943	CLIP-seq
MIRT1257309	hsa-miR-3974	CLIP-seq
MIRT1257310	hsa-miR-4270	CLIP-seq
MIRT1257311	hsa-miR-4271	CLIP-seq
MIRT1257312	hsa-miR-4323	CLIP-seq
MIRT1257313	hsa-miR-4441	CLIP-seq
MIRT1257314	hsa-miR-4505	CLIP-seq
MIRT1257315	hsa-miR-4525	CLIP-seq
MIRT1257316	hsa-miR-4665-5p	CLIP-seq
MIRT1257317	hsa-miR-4667-5p	CLIP-seq
MIRT1257318	hsa-miR-4691-5p	CLIP-seq
MIRT1257319	hsa-miR-4700-5p	CLIP-seq
MIRT1257320	hsa-miR-4723-5p	CLIP-seq
MIRT1257321	hsa-miR-4725-3p	CLIP-seq
MIRT1257322	hsa-miR-4726-3p	CLIP-seq
MIRT1257323	hsa-miR-4731-5p	CLIP-seq
MIRT1257324	hsa-miR-4747-5p	CLIP-seq
MIRT1257325	hsa-miR-542-3p	CLIP-seq
MIRT1257326	hsa-miR-615-5p	CLIP-seq
MIRT1257327	hsa-miR-625	CLIP-seq
MIRT1257328	hsa-miR-637	CLIP-seq
MIRT1257329	hsa-miR-661	CLIP-seq
MIRT1257330	hsa-miR-885-5p	CLIP-seq
MIRT1257331	hsa-miR-939	CLIP-seq
MIRT2075852	hsa-miR-1208	CLIP-seq
MIRT2075853	hsa-miR-1236	CLIP-seq
MIRT1257294	hsa-miR-1275	CLIP-seq
MIRT1257296	hsa-miR-1915	CLIP-seq
MIRT2075854	hsa-miR-199a-5p	CLIP-seq
MIRT2075855	hsa-miR-199b-5p	CLIP-seq
MIRT1257298	hsa-miR-2861	CLIP-seq
MIRT1257301	hsa-miR-3150a-3p	CLIP-seq
MIRT2075856	hsa-miR-3151	CLIP-seq
MIRT1257302	hsa-miR-3175	CLIP-seq
MIRT1257303	hsa-miR-3179	CLIP-seq
MIRT1257304	hsa-miR-3202	CLIP-seq
MIRT2075857	hsa-miR-3682-5p	CLIP-seq
MIRT2075858	hsa-miR-3684	CLIP-seq
MIRT1257306	hsa-miR-3914	CLIP-seq
MIRT1257307	hsa-miR-3928	CLIP-seq
MIRT2075859	hsa-miR-3940-3p	CLIP-seq
MIRT1257309	hsa-miR-3974	CLIP-seq
MIRT2075860	hsa-miR-4265	CLIP-seq
MIRT2075861	hsa-miR-4268	CLIP-seq
MIRT1257311	hsa-miR-4271	CLIP-seq
MIRT2075862	hsa-miR-4296	CLIP-seq
MIRT2075863	hsa-miR-4305	CLIP-seq
MIRT2075864	hsa-miR-4322	CLIP-seq
MIRT2075865	hsa-miR-4421	CLIP-seq
MIRT2075866	hsa-miR-4443	CLIP-seq
MIRT2075867	hsa-miR-4447	CLIP-seq
MIRT2075868	hsa-miR-4448	CLIP-seq
MIRT2075869	hsa-miR-4472	CLIP-seq
MIRT1257314	hsa-miR-4505	CLIP-seq
MIRT1257315	hsa-miR-4525	CLIP-seq
MIRT1257316	hsa-miR-4665-5p	CLIP-seq
MIRT1257317	hsa-miR-4667-5p	CLIP-seq
MIRT1257319	hsa-miR-4700-5p	CLIP-seq
MIRT1257320	hsa-miR-4723-5p	CLIP-seq
MIRT1257321	hsa-miR-4725-3p	CLIP-seq
MIRT1257322	hsa-miR-4726-3p	CLIP-seq
MIRT1257323	hsa-miR-4731-5p	CLIP-seq
MIRT1257324	hsa-miR-4747-5p	CLIP-seq
MIRT2075870	hsa-miR-4777-5p	CLIP-seq
MIRT2075871	hsa-miR-491-5p	CLIP-seq
MIRT2075872	hsa-miR-518d-5p	CLIP-seq
MIRT2075873	hsa-miR-519b-5p	CLIP-seq
MIRT2075874	hsa-miR-519c-5p	CLIP-seq
MIRT2075875	hsa-miR-520c-5p	CLIP-seq
MIRT2075876	hsa-miR-526a	CLIP-seq
MIRT2075877	hsa-miR-606	CLIP-seq
MIRT1257327	hsa-miR-625	CLIP-seq
MIRT1257328	hsa-miR-637	CLIP-seq
MIRT1257329	hsa-miR-661	CLIP-seq
MIRT1257331	hsa-miR-939	CLIP-seq
MIRT1257294	hsa-miR-1275	CLIP-seq
MIRT1257298	hsa-miR-2861	CLIP-seq
MIRT1257299	hsa-miR-3120-3p	CLIP-seq
MIRT2302478	hsa-miR-3126-5p	CLIP-seq
MIRT2075856	hsa-miR-3151	CLIP-seq
MIRT1257303	hsa-miR-3179	CLIP-seq
MIRT1257304	hsa-miR-3202	CLIP-seq
MIRT1257306	hsa-miR-3914	CLIP-seq
MIRT1257307	hsa-miR-3928	CLIP-seq
MIRT2075860	hsa-miR-4265	CLIP-seq
MIRT1257311	hsa-miR-4271	CLIP-seq
MIRT2075862	hsa-miR-4296	CLIP-seq
MIRT2075864	hsa-miR-4322	CLIP-seq
MIRT2075866	hsa-miR-4443	CLIP-seq
MIRT2075867	hsa-miR-4447	CLIP-seq
MIRT2075869	hsa-miR-4472	CLIP-seq
MIRT1257315	hsa-miR-4525	CLIP-seq
MIRT1257316	hsa-miR-4665-5p	CLIP-seq
MIRT1257320	hsa-miR-4723-5p	CLIP-seq
MIRT1257321	hsa-miR-4725-3p	CLIP-seq
MIRT1257323	hsa-miR-4731-5p	CLIP-seq
MIRT1257324	hsa-miR-4747-5p	CLIP-seq
MIRT2075871	hsa-miR-491-5p	CLIP-seq
MIRT2302479	hsa-miR-591	CLIP-seq
MIRT1257326	hsa-miR-615-5p	CLIP-seq
MIRT1257327	hsa-miR-625	CLIP-seq
MIRT1257328	hsa-miR-637	CLIP-seq
MIRT1257329	hsa-miR-661	CLIP-seq
MIRT1257330	hsa-miR-885-5p	CLIP-seq
MIRT1257323	hsa-miR-4731-5p	CLIP-seq
MIRT2599087	hsa-miR-1178	CLIP-seq
MIRT2075852	hsa-miR-1208	CLIP-seq
MIRT2599088	hsa-miR-125a-5p	CLIP-seq
MIRT2599089	hsa-miR-125b	CLIP-seq
MIRT1257294	hsa-miR-1275	CLIP-seq
MIRT1257295	hsa-miR-150	CLIP-seq
MIRT2599090	hsa-miR-15a	CLIP-seq
MIRT2599091	hsa-miR-15b	CLIP-seq
MIRT2599092	hsa-miR-16	CLIP-seq
MIRT1257296	hsa-miR-1915	CLIP-seq
MIRT2599093	hsa-miR-195	CLIP-seq
MIRT2075854	hsa-miR-199a-5p	CLIP-seq
MIRT2075855	hsa-miR-199b-5p	CLIP-seq
MIRT2599094	hsa-miR-214	CLIP-seq
MIRT1257298	hsa-miR-2861	CLIP-seq
MIRT1257299	hsa-miR-3120-3p	CLIP-seq
MIRT2302478	hsa-miR-3126-5p	CLIP-seq
MIRT1257300	hsa-miR-3127-3p	CLIP-seq
MIRT1257301	hsa-miR-3150a-3p	CLIP-seq
MIRT2075856	hsa-miR-3151	CLIP-seq
MIRT1257302	hsa-miR-3175	CLIP-seq
MIRT1257303	hsa-miR-3179	CLIP-seq
MIRT1257304	hsa-miR-3202	CLIP-seq
MIRT2599095	hsa-miR-3613-3p	CLIP-seq
MIRT2599096	hsa-miR-361-3p	CLIP-seq
MIRT2599097	hsa-miR-3619-5p	CLIP-seq
MIRT1257305	hsa-miR-3667-3p	CLIP-seq
MIRT1257306	hsa-miR-3914	CLIP-seq
MIRT1257307	hsa-miR-3928	CLIP-seq
MIRT2075859	hsa-miR-3940-3p	CLIP-seq
MIRT1257308	hsa-miR-3943	CLIP-seq
MIRT1257309	hsa-miR-3974	CLIP-seq
MIRT2599098	hsa-miR-424	CLIP-seq
MIRT2075860	hsa-miR-4265	CLIP-seq
MIRT1257310	hsa-miR-4270	CLIP-seq
MIRT1257311	hsa-miR-4271	CLIP-seq
MIRT2599099	hsa-miR-4287	CLIP-seq
MIRT2075862	hsa-miR-4296	CLIP-seq
MIRT2599100	hsa-miR-4319	CLIP-seq
MIRT2075864	hsa-miR-4322	CLIP-seq
MIRT1257312	hsa-miR-4323	CLIP-seq
MIRT2075865	hsa-miR-4421	CLIP-seq
MIRT2599101	hsa-miR-4434	CLIP-seq
MIRT1257313	hsa-miR-4441	CLIP-seq
MIRT2075866	hsa-miR-4443	CLIP-seq
MIRT2075867	hsa-miR-4447	CLIP-seq
MIRT2599102	hsa-miR-4469	CLIP-seq
MIRT2075869	hsa-miR-4472	CLIP-seq
MIRT1257314	hsa-miR-4505	CLIP-seq
MIRT2599103	hsa-miR-4516	CLIP-seq
MIRT2599104	hsa-miR-4520a-3p	CLIP-seq
MIRT1257315	hsa-miR-4525	CLIP-seq
MIRT2599105	hsa-miR-4531	CLIP-seq
MIRT1257316	hsa-miR-4665-5p	CLIP-seq
MIRT1257317	hsa-miR-4667-5p	CLIP-seq
MIRT2599106	hsa-miR-4685-3p	CLIP-seq
MIRT1257318	hsa-miR-4691-5p	CLIP-seq
MIRT2599107	hsa-miR-4694-3p	CLIP-seq
MIRT1257319	hsa-miR-4700-5p	CLIP-seq
MIRT1257320	hsa-miR-4723-5p	CLIP-seq
MIRT1257321	hsa-miR-4725-3p	CLIP-seq
MIRT1257322	hsa-miR-4726-3p	CLIP-seq
MIRT1257323	hsa-miR-4731-5p	CLIP-seq
MIRT2599108	hsa-miR-4732-3p	CLIP-seq
MIRT1257324	hsa-miR-4747-5p	CLIP-seq
MIRT2075871	hsa-miR-491-5p	CLIP-seq
MIRT2599109	hsa-miR-497	CLIP-seq
MIRT2599110	hsa-miR-522	CLIP-seq
MIRT1257325	hsa-miR-542-3p	CLIP-seq
MIRT2599111	hsa-miR-548aa	CLIP-seq
MIRT2599112	hsa-miR-548ac	CLIP-seq
MIRT2599113	hsa-miR-548d-3p	CLIP-seq
MIRT2599114	hsa-miR-548z	CLIP-seq
MIRT2599115	hsa-miR-583	CLIP-seq
MIRT2302479	hsa-miR-591	CLIP-seq
MIRT1257326	hsa-miR-615-5p	CLIP-seq
MIRT1257327	hsa-miR-625	CLIP-seq
MIRT1257328	hsa-miR-637	CLIP-seq
MIRT2599116	hsa-miR-642b	CLIP-seq
MIRT1257329	hsa-miR-661	CLIP-seq
MIRT2599117	hsa-miR-670	CLIP-seq
MIRT2599118	hsa-miR-761	CLIP-seq
MIRT1257330	hsa-miR-885-5p	CLIP-seq
MIRT1257331	hsa-miR-939	CLIP-seq
MIRT2599087	hsa-miR-1178	CLIP-seq
MIRT2075852	hsa-miR-1208	CLIP-seq
MIRT2599088	hsa-miR-125a-5p	CLIP-seq
MIRT2599089	hsa-miR-125b	CLIP-seq
MIRT1257294	hsa-miR-1275	CLIP-seq
MIRT1257295	hsa-miR-150	CLIP-seq
MIRT2599090	hsa-miR-15a	CLIP-seq
MIRT2599091	hsa-miR-15b	CLIP-seq
MIRT2599092	hsa-miR-16	CLIP-seq
MIRT1257296	hsa-miR-1915	CLIP-seq
MIRT2599093	hsa-miR-195	CLIP-seq
MIRT2075854	hsa-miR-199a-5p	CLIP-seq
MIRT2075855	hsa-miR-199b-5p	CLIP-seq
MIRT2599094	hsa-miR-214	CLIP-seq
MIRT1257298	hsa-miR-2861	CLIP-seq
MIRT1257299	hsa-miR-3120-3p	CLIP-seq
MIRT2302478	hsa-miR-3126-5p	CLIP-seq
MIRT1257300	hsa-miR-3127-3p	CLIP-seq
MIRT1257301	hsa-miR-3150a-3p	CLIP-seq
MIRT1257302	hsa-miR-3175	CLIP-seq
MIRT1257303	hsa-miR-3179	CLIP-seq
MIRT1257304	hsa-miR-3202	CLIP-seq
MIRT2599095	hsa-miR-3613-3p	CLIP-seq
MIRT2599096	hsa-miR-361-3p	CLIP-seq
MIRT2599097	hsa-miR-3619-5p	CLIP-seq
MIRT1257305	hsa-miR-3667-3p	CLIP-seq
MIRT1257306	hsa-miR-3914	CLIP-seq
MIRT1257307	hsa-miR-3928	CLIP-seq
MIRT2075859	hsa-miR-3940-3p	CLIP-seq
MIRT1257308	hsa-miR-3943	CLIP-seq
MIRT1257309	hsa-miR-3974	CLIP-seq
MIRT2599098	hsa-miR-424	CLIP-seq
MIRT1257310	hsa-miR-4270	CLIP-seq
MIRT1257311	hsa-miR-4271	CLIP-seq
MIRT2599099	hsa-miR-4287	CLIP-seq
MIRT2599100	hsa-miR-4319	CLIP-seq
MIRT1257312	hsa-miR-4323	CLIP-seq
MIRT2075865	hsa-miR-4421	CLIP-seq
MIRT2599101	hsa-miR-4434	CLIP-seq
MIRT1257313	hsa-miR-4441	CLIP-seq
MIRT2599102	hsa-miR-4469	CLIP-seq
MIRT1257314	hsa-miR-4505	CLIP-seq
MIRT2599103	hsa-miR-4516	CLIP-seq
MIRT2599104	hsa-miR-4520a-3p	CLIP-seq
MIRT1257315	hsa-miR-4525	CLIP-seq
MIRT2599105	hsa-miR-4531	CLIP-seq
MIRT1257316	hsa-miR-4665-5p	CLIP-seq
MIRT1257317	hsa-miR-4667-5p	CLIP-seq
MIRT2599106	hsa-miR-4685-3p	CLIP-seq
MIRT1257318	hsa-miR-4691-5p	CLIP-seq
MIRT2599107	hsa-miR-4694-3p	CLIP-seq
MIRT1257319	hsa-miR-4700-5p	CLIP-seq
MIRT1257320	hsa-miR-4723-5p	CLIP-seq
MIRT1257321	hsa-miR-4725-3p	CLIP-seq
MIRT1257322	hsa-miR-4726-3p	CLIP-seq
MIRT1257323	hsa-miR-4731-5p	CLIP-seq
MIRT2599108	hsa-miR-4732-3p	CLIP-seq
MIRT1257324	hsa-miR-4747-5p	CLIP-seq
MIRT2599109	hsa-miR-497	CLIP-seq
MIRT2599110	hsa-miR-522	CLIP-seq
MIRT2599111	hsa-miR-548aa	CLIP-seq
MIRT2599112	hsa-miR-548ac	CLIP-seq
MIRT2599113	hsa-miR-548d-3p	CLIP-seq
MIRT2599114	hsa-miR-548z	CLIP-seq
MIRT2599115	hsa-miR-583	CLIP-seq
MIRT2302479	hsa-miR-591	CLIP-seq
MIRT1257326	hsa-miR-615-5p	CLIP-seq
MIRT1257327	hsa-miR-625	CLIP-seq
MIRT1257328	hsa-miR-637	CLIP-seq
MIRT2599116	hsa-miR-642b	CLIP-seq
MIRT1257329	hsa-miR-661	CLIP-seq
MIRT2599117	hsa-miR-670	CLIP-seq
MIRT2599118	hsa-miR-761	CLIP-seq
MIRT1257330	hsa-miR-885-5p	CLIP-seq
MIRT1257331	hsa-miR-939	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000159	Component	Protein phosphatase type 2A complex	IBA
GO:0000159	Component	Protein phosphatase type 2A complex	IDA	17055435, 17174897
GO:0000159	Component	Protein phosphatase type 2A complex	IEA
GO:0000159	Component	Protein phosphatase type 2A complex	TAS	11007961
GO:0000775	Component	Chromosome, centromeric region	IDA	16580887
GO:0000775	Component	Chromosome, centromeric region	IEA
GO:0000785	Component	Chromatin	IDA	33243860, 34004147
GO:0004722	Function	Protein serine/threonine phosphatase activity	IEA
GO:0005515	Function	Protein binding	IPI	8617797, 9847399, 9857076, 11504734, 11591705, 15525651, 15761952, 16044149, 16580887, 16764867, 17055435, 17245430, 17274953, 17374643, 17529992, 17540176, 17632056, 17974561, 18394995, 18715871, 18782753, 19156129, 19293187, 19915589, 20711181, 21075311, 21460856, 22167190, 235553
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IDA	33243860, 34004147
GO:0005634	Component	Nucleus	IDA	30611118
GO:0005634	Component	Nucleus	IEA
GO:0005634	Component	Nucleus	NAS	11007961
GO:0005694	Component	Chromosome	IEA
GO:0005737	Component	Cytoplasm	IBA
GO:0005737	Component	Cytoplasm	IEA
GO:0005739	Component	Mitochondrion	NAS	11007961
GO:0005829	Component	Cytosol	IBA
GO:0005829	Component	Cytosol	IEA
GO:0005829	Component	Cytosol	TAS	11007961
GO:0005886	Component	Plasma membrane	IEA
GO:0006366	Process	Transcription by RNA polymerase II	IDA	9852112
GO:0006368	Process	Transcription elongation by RNA polymerase II	IDA	9852112
GO:0007059	Process	Chromosome segregation	IDA	16580887
GO:0007059	Process	Chromosome segregation	IEA
GO:0007143	Process	Female meiotic nuclear division	IEA
GO:0015630	Component	Microtubule cytoskeleton	NAS	11007961
GO:0016020	Component	Membrane	IEA
GO:0016020	Component	Membrane	NAS	11007961
GO:0016328	Component	Lateral plasma membrane	IDA	15525651
GO:0016328	Component	Lateral plasma membrane	IEA
GO:0019888	Function	Protein phosphatase regulator activity	IBA
GO:0019888	Function	Protein phosphatase regulator activity	IDA	33243860, 34004147
GO:0030425	Component	Dendrite	IEA
GO:0035331	Process	Negative regulation of hippo signaling	IDA	33633399
GO:0035556	Process	Intracellular signal transduction	NAS	11007961
GO:0040008	Process	Regulation of growth	NAS	11360189
GO:0042995	Component	Cell projection	IEA
GO:0043005	Component	Neuron projection	IDA	15525651
GO:0043025	Component	Neuronal cell body	IDA	15525651
GO:0043029	Process	T cell homeostasis	IEA
GO:0043029	Process	T cell homeostasis	ISS
GO:0045202	Component	Synapse	IEA
GO:0045595	Process	Regulation of cell differentiation	NAS	11360189
GO:0046982	Function	Protein heterodimerization activity	IPI	9847399
GO:0051225	Process	Spindle assembly	IBA
GO:0051232	Process	Meiotic spindle elongation	IEA
GO:0051306	Process	Mitotic sister chromatid separation	IEA
GO:0051754	Process	Meiotic sister chromatid cohesion, centromeric	IBA
GO:0051754	Process	Meiotic sister chromatid cohesion, centromeric	IEA
GO:0051898	Process	Negative regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction	IEA
GO:0051898	Process	Negative regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction	ISS
GO:0065003	Process	Protein-containing complex assembly	TAS	9989501
GO:0070062	Component	Extracellular exosome	HDA	23533145
GO:0090443	Component	FAR/SIN/STRIPAK complex	IDA	18782753, 33633399
GO:0098978	Component	Glutamatergic synapse	IEA
GO:0160232	Component	INTAC complex	IDA	33243860, 34004147, 34762484, 36869814, 38570683
GO:0160240	Process	RNA polymerase II transcription initiation surveillance	IDA	33243860, 34004147, 38570683
GO:1903538	Process	Regulation of meiotic cell cycle process involved in oocyte maturation	IEA
GO:1990405	Function	Protein antigen binding	IPI	9847399
GO:2001241	Process	Positive regulation of extrinsic apoptotic signaling pathway in absence of ligand	IEA

Other IDs

• MIM: 605983
• HGNC: 9302
• e!Ensembl: ENSG00000105568

Protein

• UniProt ID: P30153
• Protein name: Serine/threonine-protein phosphatase 2A 65 kDa regulatory subunit A alpha isoform (PP2Aa) (Medium tumor antigen-associated 61 kDa protein) (PP2A subunit A isoform PR65-alpha) (PP2A subunit A isoform R1-alpha)
• Protein function: The PR65 subunit of protein phosphatase 2A serves as a scaffolding molecule to coordinate the assembly of the catalytic subunit and a variable regulatory B subunit (PubMed:15525651, PubMed:16580887, PubMed:33243860, PubMed:33633399, PubMed:34004
• PDB: 1B3U, 2IE3, 2IE4, 2NPP, 2NYL, 2NYM, 2PKG, 3C5W, 3DW8, 3K7V, 3K7W, 4I5L, 4I5N, 4LAC, 5W0W, 6IUR, 6NTS, 7CUN, 7K36, 7PKS, 7SOY, 7YCX, 8RBX, 8RBZ, 8RC4, 8SO0, 8TTB, 8TWE, 8TWI, 8U1X, 8U89, 8UWB, 8YJB
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF02985	HEAT	166 → 196	HEAT repeat	Repeat
  PF02985	HEAT	205 → 235	HEAT repeat	Repeat
  PF02985	HEAT	283 → 313	HEAT repeat	Repeat

• Sequence:

  MAAADGDDSLYPIAVLIDELRNEDVQLRLNSIKKLSTIALALGVERTRSELLPFLTDTIY
  DEDEVLLALAEQLGTFTTLVGGPEYVHCLLPPLESLATVEETVVRDKAVESLRAISHEHS
  PSDLEAHFVPLVKRLAGGDWFTSRTSACGLFSVCYPRVSSAVKAELRQYFRNLCSDDTPM
  VRRAAASKLGEFAKVLELDNVKSEIIPMFSNLASDEQDSVRLLAVEACVNIAQLLPQEDL
  EALVMPTLRQAAEDKSWRVRYMVADKFTELQKAVGPEITKTDLVPAFQNLMKDCEAEVRA
  AASHKVKEFCENLSADCRENVIMSQILPCIKELVSDANQHVKSALASVIMGLSPILGKDN
  TIEHLLPLFLAQLKDECPEVRLNIISNLDCVNEVIGIRQLSQSLLPAIVELAEDAKWRVR
  LAIIEYMPLLAGQLGVEFFDEKLNSLCMAWLVDHVYAIREAATSNLKKLVEKFGKEWAHA
  TIIPKVLAMSGDPNYLHRMTTLFCINVLSEVCGQDITTKHMLPTVLRMAGDPVANVRFNV
  AKSLQKIGPILDNSTLQSEVKPILEKLTQDQDVDVKYFAQEALTVLSLA

• Sequence length: 589

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)

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Colon adenocarcinoma	Likely pathogenic; Pathogenic	rs1057519946	RCV005900737	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Houge-Janssens syndrome 2	Pathogenic; Likely pathogenic	rs2122334663, rs2122337413, rs786205228, rs786205227, rs863225094, rs1600167934, rs2514079238, rs2514094817, rs1978897991, rs546812521, rs1057519946, rs1057519947, rs1555791268, rs1600167941	RCV003232383 RCV005868326 RCV002273041 RCV000170500 RCV000170501 RCV000201504 RCV003128303 RCV003219209 RCV003232037 RCV003232039 RCV004556964 RCV000761600 RCV001262898 RCV000824836 RCV003232134	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Intellectual disability	Likely pathogenic; Pathogenic	rs1057519947	RCV002225611	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Neoplasm	Likely pathogenic	rs546812521	RCV005230633	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Neurodevelopmental disorder	Likely pathogenic	rs2122334423	RCV001374923	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
PPP2R1A-related disorder	Pathogenic; Likely pathogenic	rs786205228, rs1555791268, rs1600167941	RCV004725019 RCV003987626 RCV000844990	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
PPP2R1A-related neurodevelopmental disorders	Pathogenic	rs786205228	RCV001249733	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Acute myeloid leukemia	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autism spectrum disorder	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDERS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COMPLEX NEURODEVELOPMENTAL DISORDER	—	ClinGen, GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MICROCEPHALY, CORPUS CALLOSUM HYPOPLASIA, INTELLECTUAL DISABILITY, FACIAL DYSMORPHISM SYNDROME	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MICROCEPHALY-CORPUS CALLOSUM HYPOPLASIA-INTELLECTUAL DISABILITY-FACIAL DYSMORPHISM SYNDROME	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEURODEVELOPMENTAL DISORDERS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NON-SPECIFIC SYNDROMIC INTELLECTUAL DISABILITY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOARTHRITIS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
STOMACH NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	-	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Adenocarcinoma of lung (disorder)	Lung adenocarcinoma	CLINVAR_DG	26619011		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of prostate	Prostate adenocarcinoma	CLINVAR_DG	26619011		★☆☆☆☆ Found in Text Mining only
Alzheimer Disease	Alzheimer disease	Pubtator	34716204	Associate	★☆☆☆☆ Found in Text Mining only
Aqueductal Stenosis	Aqueductal Stenosis	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Ataxia Telangiectasia	Ataxia telangiectasia	Pubtator	34933911	Associate	★☆☆☆☆ Found in Text Mining only
Autistic behavior	Autism	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Brachydactyly	Brachydactyly	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	19890961		★☆☆☆☆ Found in Text Mining only
Breast Diseases	Breast disease	Pubtator	19890961	Associate	★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	19890961	Associate	★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	27469332, 31142515	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	BEFREE	10713707, 11360189, 21381030, 21432855, 21435433, 22923510, 27272709		★☆☆☆☆ Found in Text Mining only
Carcinoma Endometrioid	Endometrioid carcinoma	Pubtator	21435433	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	23555712, 27023146	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	24204789, 28383694		★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	28004769, 28718916	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Squamous Cell	Squamous cell carcinoma	Pubtator	25072932	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma, Endometrioid	Endometrioid cancer	BEFREE	21381030, 21435433, 23765252, 27093454		★☆☆☆☆ Found in Text Mining only
Carcinoma, Ovarian Epithelial	Ovarian Epithelial carcinoma	BEFREE	23267135, 23588898		★☆☆☆☆ Found in Text Mining only
Carcinosarcoma	Carcinosarcoma	BEFREE	22653804, 27485451		★☆☆☆☆ Found in Text Mining only
Carcinosarcoma	Carcinoma	Pubtator	22653804, 28292439, 28940304, 32114514	Associate	★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal Neoplasms	CLINVAR_DG	26619011		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	27023146, 34476575	Associate	★☆☆☆☆ Found in Text Mining only
Congenital pectus excavatum	Congenital Pectus Excavatum	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congestive heart failure	Congestive Heart Failure	BEFREE	24465463		★☆☆☆☆ Found in Text Mining only
Cystic Fibrosis	Cystic Fibrosis	BEFREE	22892532		★☆☆☆☆ Found in Text Mining only
Cystic Fibrosis	Cystic fibrosis	Pubtator	22892532	Associate	★☆☆☆☆ Found in Text Mining only
Degenerative polyarthritis	Arthritis	CTD_human_DG	18784066		★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Developmental disability	Pubtator	37761890, 37762002	Associate	★☆☆☆☆ Found in Text Mining only
Endometrial Carcinoma	Endometrial carcinoma	BEFREE	21882256, 23588898, 27272709, 27485451, 31416848		★☆☆☆☆ Found in Text Mining only
Endometrial Hyperplasia	Endometrial hyperplasia	Pubtator	27272709	Associate	★☆☆☆☆ Found in Text Mining only
Endometrial Neoplasms	Endometrial neoplasm	Pubtator	22653804, 22923510, 27272709, 28485815, 31142515, 34831139, 35128859, 36454788, 37890416, 38536067	Associate	★☆☆☆☆ Found in Text Mining only
Endometrioid carcinoma ovary	Ovarian endometrioid carcinoma	BEFREE	23588898		★☆☆☆☆ Found in Text Mining only
Endometriosis	Endometriosis	BEFREE	24472300		★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	Pubtator	37761890, 37762002	Associate	★☆☆☆☆ Found in Text Mining only
Gastric Adenocarcinoma	Gastric Cancer	CLINVAR_DG	26619011		★☆☆☆☆ Found in Text Mining only
Gastrointestinal Stromal Tumors	Gastrointestinal stromal tumor	BEFREE	27469332		★☆☆☆☆ Found in Text Mining only
Gastrointestinal Stromal Tumors	Gastrointestinal stromal tumor	Pubtator	27469332	Associate	★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★☆☆☆☆ Found in Text Mining only
Gross motor development delay	Developmental delay	HPO_DG			★☆☆☆☆ Found in Text Mining only
Heart failure	Heart Failure	BEFREE	24465463		★☆☆☆☆ Found in Text Mining only
Hereditary Diffuse Gastric Cancer	Gastric Cancer	CTD_human_DG	21364753		★☆☆☆☆ Found in Text Mining only
Hydrocephalus	Hydrocephalus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hydrocephalus	Hydrocephalus	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Hypersensitivity Delayed	Hypersensitivity	Pubtator	37761890	Associate	★☆☆☆☆ Found in Text Mining only
Hypoplasia of corpus callosum	Hypoplasia Of Corpus Callosum	HPO_DG			★☆☆☆☆ Found in Text Mining only
Immunologic Deficiency Syndromes	Immunologic Deficiency Syndromes	BEFREE	16166293		★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	GENOMICS_ENGLAND_DG	25533962		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Intellectual Disability	Intellectual developmental disorder	Pubtator	34716204, 37762002	Associate	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Intellectual Disability	Mental retardation	HPO_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Leukemia	Leukemia	Pubtator	27611305	Associate	★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	23555712		★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	24204789	Associate	★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	19890961		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of endometrium	Endometrial Cancer	BEFREE	21882256, 23588898, 27272709, 31416848		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	24204789, 28383694		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of ovary	Ovarian cancer	BEFREE	21381030, 21882256, 23267135, 23588898		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	CTD_human_DG	21364753		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	23267135, 26548627, 27272709		★☆☆☆☆ Found in Text Mining only
Malignant Uterine Corpus Neoplasm	Malignant Uterine Corpus Neoplasm	CLINVAR_DG	26619011		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	CLINVAR_DG	26619011		★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	10713707		★☆☆☆☆ Found in Text Mining only
Meningioma	Meningioma	Pubtator	36203966	Associate	★☆☆☆☆ Found in Text Mining only
MENTAL RETARDATION, AUTOSOMAL DOMINANT 36	Mental retardation	UNIPROT_DG	25533962, 26168268		★☆☆☆☆ Found in Text Mining only
MENTAL RETARDATION, AUTOSOMAL DOMINANT 36	Mental retardation	ORPHANET_DG	26168268		★☆☆☆☆ Found in Text Mining only
MENTAL RETARDATION, AUTOSOMAL DOMINANT 36	Mental retardation	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
MENTAL RETARDATION, AUTOSOMAL DOMINANT 36	Mental retardation	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Metastatic Prostate Carcinoma	Metastatic Prostate Carcinoma	BEFREE	23493267		★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	Pubtator	37761890, 37762002	Associate	★☆☆☆☆ Found in Text Mining only
Microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome	Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Microphthalmos	Microphthalmos	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Mucinous Adenocarcinoma	Mucinous Adenocarcinoma	BEFREE	21435433		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	10713707, 11360189, 16166293, 20826764, 21432855, 21683865, 23267135, 23493267, 25820416, 27272709, 27469332, 27485451, 31416848		★☆☆☆☆ Found in Text Mining only
Nephroblastoma	Nephroblastoma	BEFREE	11360189		★☆☆☆☆ Found in Text Mining only
Osteoarthrosis Deformans	Osteoarthrosis Deformans	CTD_human_DG	18784066		★☆☆☆☆ Found in Text Mining only
Ovarian Carcinoma	Ovarian Carcinoma	BEFREE	23267135		★☆☆☆☆ Found in Text Mining only
Ovarian clear cell carcinoma	Ovarian Carcinoma	BEFREE	20826764, 21435433, 27272709		★☆☆☆☆ Found in Text Mining only
Ovarian clear cell carcinoma	Ovarian Carcinoma	CGI_DG			★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	BEFREE	21435433, 23588898		★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	20826764, 21435433, 27272709, 27791010, 28888422, 32650224, 36311816	Associate	★☆☆☆☆ Found in Text Mining only
Plagiocephaly	Plagiocephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Polycystic Ovary Syndrome	Polycystic ovary syndrome	Pubtator	28004769	Associate	★☆☆☆☆ Found in Text Mining only
Pontocerebellar Hypoplasia	Pontocerebellar hypoplasia	Pubtator	37762002	Associate	★☆☆☆☆ Found in Text Mining only
Porphyria Cutanea Tarda	Porphyria cutanea tarda	Pubtator	34476575	Associate	★☆☆☆☆ Found in Text Mining only
Profound global developmental delay	Developmental Delay	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	23493267, 23598299	Associate	★☆☆☆☆ Found in Text Mining only
Serous cystadenocarcinoma ovary	Ovarian Serous Cystadenocarcinoma	CLINVAR_DG	26619011		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of the head and neck	Carcinoma Of The Head And Neck	CLINVAR_DG	26619011		★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach Neoplasms	CTD_human_DG	21364753		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Synophrys	Synophrys	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Undifferentiated carcinoma	Carcinoma	BEFREE	24451280		★☆☆☆☆ Found in Text Mining only
Uterine Cancer	Endometrial Cancer	BEFREE	21882256, 27485451		★☆☆☆☆ Found in Text Mining only
Uterine Carcinosarcoma	Endometrial Cancer	CLINVAR_DG	26619011		★☆☆☆☆ Found in Text Mining only