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

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	5520
Gene name	Protein phosphatase 2 regulatory subunit Balpha
Gene symbol	PPP2R2A
Synonyms (NCBI Gene)	B55B55AB55ALPHAPR52APR55APR55alpha
Chromosome	8
Chromosome location	8p21.2
Summary	The product of this gene belongs to the phosphatase 2 regulatory subunit B family. 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 heter

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miRTarBase ID	miRNA	Experiments	Reference
MIRT000490	hsa-miR-31-5p	qRT-PCRLuciferase reporter assay	20237410
MIRT003191	hsa-miR-222-3p	Luciferase reporter assayWestern blot	20103675
MIRT003191	hsa-miR-222-3p	Luciferase reporter assayWestern blot	20103675
MIRT020735	hsa-miR-155-5p	Proteomics	18668040
MIRT023787	hsa-miR-1-3p	Proteomics	18668040
MIRT003191	hsa-miR-222-3p	Reporter assay;Western blot	21656127
MIRT028533	hsa-miR-30a-5p	Proteomics	18668040
MIRT029553	hsa-miR-26b-5p	Microarray	19088304
MIRT052508	hsa-let-7a-5p	CLASH	23622248
MIRT052126	hsa-let-7b-5p	CLASH	23622248
MIRT049716	hsa-miR-92a-3p	CLASH	23622248
MIRT003191	hsa-miR-222-3p	CLASH	23622248
MIRT438060	hsa-miR-136-5p	Luciferase reporter assayqRT-PCRWestern blot	23959478
MIRT438060	hsa-miR-136-5p	Luciferase reporter assayqRT-PCRWestern blot	23959478
MIRT438060	hsa-miR-136-5p	Luciferase reporter assayqRT-PCRWestern blot	23959478
MIRT438060	hsa-miR-136-5p	Luciferase reporter assayqRT-PCRWestern blot	23959478
MIRT224728	hsa-miR-548az-5p	PAR-CLIP	20371350
MIRT224722	hsa-miR-548t-5p	PAR-CLIP	20371350
MIRT322414	hsa-miR-4796-3p	PAR-CLIP	20371350
MIRT322409	hsa-miR-551b-5p	PAR-CLIP	20371350
MIRT322413	hsa-miR-3910	PAR-CLIP	20371350
MIRT322407	hsa-miR-409-3p	PAR-CLIP	20371350
MIRT322410	hsa-miR-605-3p	PAR-CLIP	20371350
MIRT566298	hsa-miR-4533	PAR-CLIP	20371350
MIRT566297	hsa-miR-3202	PAR-CLIP	20371350
MIRT561721	hsa-miR-144-3p	PAR-CLIP	20371350
MIRT561719	hsa-miR-101-3p	PAR-CLIP	20371350
MIRT561719	hsa-miR-101-3p	PAR-CLIP	20371350
MIRT561718	hsa-miR-4731-3p	PAR-CLIP	20371350
MIRT561717	hsa-miR-4801	PAR-CLIP	20371350
MIRT561716	hsa-miR-4719	PAR-CLIP	20371350
MIRT561715	hsa-miR-1185-5p	PAR-CLIP	20371350
MIRT561714	hsa-miR-3679-5p	PAR-CLIP	20371350
MIRT561713	hsa-miR-3605-5p	PAR-CLIP	20371350
MIRT322426	hsa-let-7c-5p	PAR-CLIP	23446348
MIRT052508	hsa-let-7a-5p	PAR-CLIP	23446348
MIRT322427	hsa-let-7d-5p	PAR-CLIP	23446348
MIRT322428	hsa-let-7e-5p	PAR-CLIP	23446348
MIRT052126	hsa-let-7b-5p	PAR-CLIP	23446348
MIRT322431	hsa-let-7g-5p	PAR-CLIP	23446348
MIRT322432	hsa-let-7i-5p	PAR-CLIP	23446348
MIRT322434	hsa-miR-4500	PAR-CLIP	23446348
MIRT322430	hsa-miR-98-5p	PAR-CLIP	23446348
MIRT322429	hsa-let-7f-5p	PAR-CLIP	23446348
MIRT322433	hsa-miR-4458	PAR-CLIP	23446348
MIRT506065	hsa-miR-548aa	PAR-CLIP	23446348
MIRT506064	hsa-miR-548ap-3p	PAR-CLIP	23446348
MIRT506063	hsa-miR-548t-3p	PAR-CLIP	23446348
MIRT506062	hsa-miR-154-5p	PAR-CLIP	23446348
MIRT506061	hsa-miR-187-5p	PAR-CLIP	23446348
MIRT439914	hsa-miR-218-5p	HITS-CLIP	23212916
MIRT439914	hsa-miR-218-5p	HITS-CLIP	23212916
MIRT003191	hsa-miR-222-3p	Luciferase reporter assayqRT-PCRWestern blot	26800397
MIRT003191	hsa-miR-222-3p	Luciferase reporter assayqRT-PCRWestern blot	26800397
MIRT003191	hsa-miR-222-3p	Luciferase reporter assayqRT-PCRWestern blot	26800397
MIRT003191	hsa-miR-222-3p	Luciferase reporter assayqRT-PCRWestern blot	26800397
MIRT731778	hsa-miR-556-5p	Luciferase reporter assayWestern blot	26297546
MIRT731778	hsa-miR-556-5p	Luciferase reporter assayWestern blot	26297546
MIRT003191	hsa-miR-222-3p	PAR-CLIP	26701625
MIRT224728	hsa-miR-548az-5p	PAR-CLIP	20371350
MIRT224722	hsa-miR-548t-5p	PAR-CLIP	20371350
MIRT322414	hsa-miR-4796-3p	PAR-CLIP	20371350
MIRT322409	hsa-miR-551b-5p	PAR-CLIP	20371350
MIRT322413	hsa-miR-3910	PAR-CLIP	20371350
MIRT322407	hsa-miR-409-3p	PAR-CLIP	20371350
MIRT322410	hsa-miR-605-3p	PAR-CLIP	20371350
MIRT566298	hsa-miR-4533	PAR-CLIP	20371350
MIRT566297	hsa-miR-3202	PAR-CLIP	20371350
MIRT561721	hsa-miR-144-3p	PAR-CLIP	20371350
MIRT561719	hsa-miR-101-3p	PAR-CLIP	20371350
MIRT561719	hsa-miR-101-3p	PAR-CLIP	20371350
MIRT561718	hsa-miR-4731-3p	PAR-CLIP	20371350
MIRT561717	hsa-miR-4801	PAR-CLIP	20371350
MIRT561716	hsa-miR-4719	PAR-CLIP	20371350
MIRT561715	hsa-miR-1185-5p	PAR-CLIP	20371350
MIRT561714	hsa-miR-3679-5p	PAR-CLIP	20371350
MIRT561713	hsa-miR-3605-5p	PAR-CLIP	20371350
MIRT322426	hsa-let-7c-5p	PAR-CLIP	23446348
MIRT052508	hsa-let-7a-5p	PAR-CLIP	23446348
MIRT322427	hsa-let-7d-5p	PAR-CLIP	23446348
MIRT322428	hsa-let-7e-5p	PAR-CLIP	23446348
MIRT052126	hsa-let-7b-5p	PAR-CLIP	23446348
MIRT322431	hsa-let-7g-5p	PAR-CLIP	23446348
MIRT322432	hsa-let-7i-5p	PAR-CLIP	23446348
MIRT322434	hsa-miR-4500	PAR-CLIP	23446348
MIRT322430	hsa-miR-98-5p	PAR-CLIP	23446348
MIRT322429	hsa-let-7f-5p	PAR-CLIP	23446348
MIRT322433	hsa-miR-4458	PAR-CLIP	23446348
MIRT506065	hsa-miR-548aa	PAR-CLIP	23446348
MIRT506064	hsa-miR-548ap-3p	PAR-CLIP	23446348
MIRT506063	hsa-miR-548t-3p	PAR-CLIP	23446348
MIRT506062	hsa-miR-154-5p	PAR-CLIP	23446348
MIRT506061	hsa-miR-187-5p	PAR-CLIP	23446348
MIRT1257501	hsa-miR-1208	CLIP-seq
MIRT1257502	hsa-miR-1299	CLIP-seq
MIRT1257503	hsa-miR-130a	CLIP-seq
MIRT1257504	hsa-miR-130b	CLIP-seq
MIRT1257505	hsa-miR-198	CLIP-seq
MIRT1257506	hsa-miR-301a	CLIP-seq
MIRT1257507	hsa-miR-301b	CLIP-seq
MIRT1257508	hsa-miR-3148	CLIP-seq
MIRT1257509	hsa-miR-3156-5p	CLIP-seq
MIRT1257510	hsa-miR-3591-5p	CLIP-seq
MIRT1257511	hsa-miR-3666	CLIP-seq
MIRT1257512	hsa-miR-4295	CLIP-seq
MIRT1257513	hsa-miR-4420	CLIP-seq
MIRT1257514	hsa-miR-4473	CLIP-seq
MIRT1257515	hsa-miR-4493	CLIP-seq
MIRT1257516	hsa-miR-454	CLIP-seq
MIRT1257517	hsa-miR-4671-3p	CLIP-seq
MIRT1257518	hsa-miR-4704-3p	CLIP-seq
MIRT1257519	hsa-miR-548a-3p	CLIP-seq
MIRT1257520	hsa-miR-548e	CLIP-seq
MIRT1257521	hsa-miR-548f	CLIP-seq
MIRT1257522	hsa-miR-548g	CLIP-seq
MIRT1257523	hsa-miR-548l	CLIP-seq
MIRT1257524	hsa-miR-548n	CLIP-seq
MIRT1257525	hsa-miR-548t	CLIP-seq
MIRT1257526	hsa-miR-597	CLIP-seq
MIRT1257527	hsa-miR-598	CLIP-seq
MIRT1257528	hsa-miR-668	CLIP-seq
MIRT1257529	hsa-miR-875-3p	CLIP-seq
MIRT1257530	hsa-miR-892a	CLIP-seq
MIRT1257501	hsa-miR-1208	CLIP-seq
MIRT1257531	hsa-miR-143	CLIP-seq
MIRT1257532	hsa-miR-151-5p	CLIP-seq
MIRT1257533	hsa-miR-151b	CLIP-seq
MIRT1257534	hsa-miR-2053	CLIP-seq
MIRT1257535	hsa-miR-221	CLIP-seq
MIRT1257536	hsa-miR-222	CLIP-seq
MIRT1257537	hsa-miR-31	CLIP-seq
MIRT1257538	hsa-miR-3133	CLIP-seq
MIRT1257539	hsa-miR-3136-5p	CLIP-seq
MIRT1257540	hsa-miR-3185	CLIP-seq
MIRT1257541	hsa-miR-3614-5p	CLIP-seq
MIRT1257542	hsa-miR-3671	CLIP-seq
MIRT1257543	hsa-miR-4285	CLIP-seq
MIRT1257513	hsa-miR-4420	CLIP-seq
MIRT1257544	hsa-miR-4423-3p	CLIP-seq
MIRT1257545	hsa-miR-4426	CLIP-seq
MIRT1257546	hsa-miR-4439	CLIP-seq
MIRT1257547	hsa-miR-4452	CLIP-seq
MIRT1257548	hsa-miR-4462	CLIP-seq
MIRT1257515	hsa-miR-4493	CLIP-seq
MIRT1257549	hsa-miR-4495	CLIP-seq
MIRT1257550	hsa-miR-4503	CLIP-seq
MIRT1257551	hsa-miR-4513	CLIP-seq
MIRT1257552	hsa-miR-4528	CLIP-seq
MIRT1257553	hsa-miR-4647	CLIP-seq
MIRT1257554	hsa-miR-4662b	CLIP-seq
MIRT1257555	hsa-miR-4696	CLIP-seq
MIRT1257556	hsa-miR-4709-3p	CLIP-seq
MIRT1257557	hsa-miR-4718	CLIP-seq
MIRT1257558	hsa-miR-4765	CLIP-seq
MIRT1257525	hsa-miR-548t	CLIP-seq
MIRT1257559	hsa-miR-554	CLIP-seq
MIRT1257526	hsa-miR-597	CLIP-seq
MIRT1257527	hsa-miR-598	CLIP-seq
MIRT1257560	hsa-miR-605	CLIP-seq
MIRT1257561	hsa-miR-607	CLIP-seq
MIRT1257528	hsa-miR-668	CLIP-seq
MIRT1257562	hsa-miR-885-5p	CLIP-seq
MIRT1257563	hsa-miR-887	CLIP-seq
MIRT1257530	hsa-miR-892a	CLIP-seq
MIRT1257564	hsa-miR-939	CLIP-seq
MIRT2075883	hsa-miR-1207-5p	CLIP-seq
MIRT1257501	hsa-miR-1208	CLIP-seq
MIRT1257532	hsa-miR-151-5p	CLIP-seq
MIRT1257533	hsa-miR-151b	CLIP-seq
MIRT2075884	hsa-miR-1909	CLIP-seq
MIRT1257535	hsa-miR-221	CLIP-seq
MIRT1257536	hsa-miR-222	CLIP-seq
MIRT1257537	hsa-miR-31	CLIP-seq
MIRT2075885	hsa-miR-3117-5p	CLIP-seq
MIRT1257539	hsa-miR-3136-5p	CLIP-seq
MIRT2075886	hsa-miR-34c-3p	CLIP-seq
MIRT2075887	hsa-miR-3688-5p	CLIP-seq
MIRT2075888	hsa-miR-4272	CLIP-seq
MIRT2075889	hsa-miR-4282	CLIP-seq
MIRT1257543	hsa-miR-4285	CLIP-seq
MIRT1257544	hsa-miR-4423-3p	CLIP-seq
MIRT1257545	hsa-miR-4426	CLIP-seq
MIRT1257546	hsa-miR-4439	CLIP-seq
MIRT1257548	hsa-miR-4462	CLIP-seq
MIRT2075890	hsa-miR-4474-3p	CLIP-seq
MIRT2075891	hsa-miR-450b-5p	CLIP-seq
MIRT1257551	hsa-miR-4513	CLIP-seq
MIRT2075892	hsa-miR-452	CLIP-seq
MIRT1257553	hsa-miR-4647	CLIP-seq
MIRT1257554	hsa-miR-4662b	CLIP-seq
MIRT2075893	hsa-miR-4676-3p	CLIP-seq
MIRT1257555	hsa-miR-4696	CLIP-seq
MIRT1257518	hsa-miR-4704-3p	CLIP-seq
MIRT2075894	hsa-miR-4733-5p	CLIP-seq
MIRT2075895	hsa-miR-4736	CLIP-seq
MIRT2075896	hsa-miR-4763-3p	CLIP-seq
MIRT1257558	hsa-miR-4765	CLIP-seq
MIRT2075897	hsa-miR-4795-5p	CLIP-seq
MIRT2075898	hsa-miR-548c-3p	CLIP-seq
MIRT1257528	hsa-miR-668	CLIP-seq
MIRT2302512	hsa-miR-150	CLIP-seq
MIRT1257532	hsa-miR-151-5p	CLIP-seq
MIRT1257533	hsa-miR-151b	CLIP-seq
MIRT2302513	hsa-miR-3613-3p	CLIP-seq
MIRT1257543	hsa-miR-4285	CLIP-seq
MIRT1257548	hsa-miR-4462	CLIP-seq
MIRT2302514	hsa-miR-4496	CLIP-seq
MIRT2302515	hsa-miR-4713-5p	CLIP-seq
MIRT1257558	hsa-miR-4765	CLIP-seq
MIRT2302516	hsa-miR-532-3p	CLIP-seq
MIRT1257501	hsa-miR-1208	CLIP-seq
MIRT1257513	hsa-miR-4420	CLIP-seq
MIRT1257551	hsa-miR-4513	CLIP-seq
MIRT1257532	hsa-miR-151-5p	CLIP-seq
MIRT1257533	hsa-miR-151b	CLIP-seq
MIRT1257543	hsa-miR-4285	CLIP-seq
MIRT1257548	hsa-miR-4462	CLIP-seq
MIRT1257558	hsa-miR-4765	CLIP-seq
MIRT1257505	hsa-miR-198	CLIP-seq
MIRT1257518	hsa-miR-4704-3p	CLIP-seq
MIRT2075883	hsa-miR-1207-5p	CLIP-seq
MIRT2599168	hsa-miR-1298	CLIP-seq
MIRT1257531	hsa-miR-143	CLIP-seq
MIRT2599169	hsa-miR-147	CLIP-seq
MIRT1257532	hsa-miR-151-5p	CLIP-seq
MIRT1257533	hsa-miR-151b	CLIP-seq
MIRT2075884	hsa-miR-1909	CLIP-seq
MIRT2599170	hsa-miR-2113	CLIP-seq
MIRT2599171	hsa-miR-218	CLIP-seq
MIRT2075885	hsa-miR-3117-5p	CLIP-seq
MIRT2599172	hsa-miR-3144-3p	CLIP-seq
MIRT2599173	hsa-miR-3156-3p	CLIP-seq
MIRT2599174	hsa-miR-3160-5p	CLIP-seq
MIRT1257540	hsa-miR-3185	CLIP-seq
MIRT2599175	hsa-miR-345	CLIP-seq
MIRT2075887	hsa-miR-3688-5p	CLIP-seq
MIRT1257543	hsa-miR-4285	CLIP-seq
MIRT2599176	hsa-miR-4301	CLIP-seq
MIRT1257548	hsa-miR-4462	CLIP-seq
MIRT2075890	hsa-miR-4474-3p	CLIP-seq
MIRT2075891	hsa-miR-450b-5p	CLIP-seq
MIRT2599177	hsa-miR-4640-3p	CLIP-seq
MIRT2075894	hsa-miR-4733-5p	CLIP-seq
MIRT2075895	hsa-miR-4736	CLIP-seq
MIRT2075896	hsa-miR-4763-3p	CLIP-seq
MIRT1257558	hsa-miR-4765	CLIP-seq
MIRT2599178	hsa-miR-599	CLIP-seq
MIRT2599179	hsa-miR-636	CLIP-seq
MIRT1257562	hsa-miR-885-5p	CLIP-seq
MIRT2599180	hsa-miR-889	CLIP-seq
MIRT2599168	hsa-miR-1298	CLIP-seq
MIRT1257531	hsa-miR-143	CLIP-seq
MIRT2599169	hsa-miR-147	CLIP-seq
MIRT1257532	hsa-miR-151-5p	CLIP-seq
MIRT1257533	hsa-miR-151b	CLIP-seq
MIRT2599170	hsa-miR-2113	CLIP-seq
MIRT2599171	hsa-miR-218	CLIP-seq
MIRT1257537	hsa-miR-31	CLIP-seq
MIRT2599173	hsa-miR-3156-3p	CLIP-seq
MIRT2599174	hsa-miR-3160-5p	CLIP-seq
MIRT1257543	hsa-miR-4285	CLIP-seq
MIRT2599176	hsa-miR-4301	CLIP-seq
MIRT1257544	hsa-miR-4423-3p	CLIP-seq
MIRT1257545	hsa-miR-4426	CLIP-seq
MIRT1257548	hsa-miR-4462	CLIP-seq
MIRT2075891	hsa-miR-450b-5p	CLIP-seq
MIRT2599177	hsa-miR-4640-3p	CLIP-seq
MIRT1257553	hsa-miR-4647	CLIP-seq
MIRT1257554	hsa-miR-4662b	CLIP-seq
MIRT1257558	hsa-miR-4765	CLIP-seq
MIRT1257559	hsa-miR-554	CLIP-seq
MIRT2599178	hsa-miR-599	CLIP-seq
MIRT2599179	hsa-miR-636	CLIP-seq
MIRT1257562	hsa-miR-885-5p	CLIP-seq
MIRT2599180	hsa-miR-889	CLIP-seq
MIRT1257564	hsa-miR-939	CLIP-seq

Show/Hide all (23)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000159	Component	Protein phosphatase type 2A complex	IBA
GO:0000159	Component	Protein phosphatase type 2A complex	IDA	1849734, 17245430
GO:0000159	Component	Protein phosphatase type 2A complex	IEA
GO:0005515	Function	Protein binding	IPI	9847399, 15761952, 17245430, 17529992, 17540176, 17632056, 18782753, 19156129, 19293187, 19915589, 20220139, 20711181, 25816751, 26496610, 26894577, 27173435, 27588481, 28330616, 28609714, 30595372, 30611118, 31046837, 32707033, 32814053, 33108758, 33961781, 34731788
GO:0005654	Component	Nucleoplasm	TAS
GO:0005829	Component	Cytosol	IBA
GO:0005829	Component	Cytosol	TAS
GO:0006470	Process	Protein dephosphorylation	IDA	1849734
GO:0006470	Process	Protein dephosphorylation	IMP	33108758
GO:0019888	Function	Protein phosphatase regulator activity	IBA
GO:0019888	Function	Protein phosphatase regulator activity	IDA	1849734
GO:0019888	Function	Protein phosphatase regulator activity	IEA
GO:0019888	Function	Protein phosphatase regulator activity	TAS	1849734
GO:0043278	Process	Response to morphine	IEA
GO:0044877	Function	Protein-containing complex binding	IEA
GO:0045202	Component	Synapse	IEA
GO:0048156	Function	Tau protein binding	IEA
GO:0051721	Function	Protein phosphatase 2A binding	IEA
GO:0051983	Process	Regulation of chromosome segregation	IEA
GO:0051983	Process	Regulation of chromosome segregation	ISS
GO:0098978	Component	Glutamatergic synapse	IEA
GO:0140767	Function	Enzyme-substrate adaptor activity	IEA
GO:0140767	Function	Enzyme-substrate adaptor activity	ISS

MIM	HGNC	e!Ensembl
604941	9304	ENSG00000221914

P63151

Protein name

Serine/threonine-protein phosphatase 2A 55 kDa regulatory subunit B alpha isoform (PP2A subunit B isoform B55-alpha) (B55) (PP2A subunit B isoform PR55-alpha) (PP2A subunit B isoform R2-alpha) (PP2A subunit B isoform alpha)

Protein function

Substrate-recognition subunit of protein phosphatase 2A (PP2A) that plays a key role in cell cycle by controlling mitosis entry and exit (PubMed:1849734, PubMed:33108758). Involved in chromosome clustering during late mitosis by mediating dephos

PDB

3DW8 , 8SO0 , 8TTB , 8TWE

Family and domains

Tissue specificity

TISSUE SPECIFICITY: Expressed in all tissues examined. {ECO:0000269|PubMed:1849734}.

Sequence

MAGAGGGNDIQWCFSQVKGAVDDDVAEADIISTVEFNHSGELLATGDKGGRVVIFQQEQE
NKIQSHSRGEYNVYSTFQSHEPEFDYLKSLEIEEKINKIRWLPQKNAAQFLLSTNDKTIK
LWKISERDKRPEGYNLKEEDGRYRDPTTVTTLRVPVFRPMDLMVEASPRRIFANAHTYHI
NSISINSDYETYLSADDLRINLWHLEITDRSFNIVDIKPANMEELTEVITAAEFHPNSCN
TFVYSSSKGTIRLCDMRASALCDRHSKLFEEPEDPSNRSFFSEIISSISDVKFSHSGRYM
MTRDYLSVKIWDLNMENRPVETYQVHEYLRSKLCSLYENDCIFDKFECCWNGSDSVVMTG
SYNNFFRMFDRNTKRDITLEASRENNKPRTVLKPRKVCASGKRKKDEISVDSLDFNKKIL
HTAWHPKENIIAVATTNNLYIFQDKVN

Sequence length

447

Interactions

View interactions

	KEGG		Reactome
	mRNA surveillance pathway Sphingolipid signaling pathway PI3K-Akt signaling pathway AMPK signaling pathway Adrenergic signaling in cardiomyocytes Hippo signaling pathway Tight junction T cell receptor signaling pathway Dopaminergic synapse Chagas disease Hepatitis C Human papillomavirus infection		Initiation of Nuclear Envelope (NE) Reformation Cyclin D associated events in G1 Cyclin A/B1/B2 associated events during G2/M transition Nonsense Mediated Decay (NMD) enhanced by the Exon Junction Complex (EJC)

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Unknown Diseases (16)

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.
Acute myeloid leukemia	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
APPENDICITIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHROMOSOMAL INSTABILITY	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CORONARY ARTERY DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EMPHYSEMA	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hereditary breast ovarian cancer syndrome	Likely benign; Uncertain significance; Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hereditary cancer-predisposing syndrome	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERTENSION	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOARTHRITIS, KNEE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATE CANCER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATE CARCINOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATIC NEOPLASMS	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (39)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Acute monocytic leukemia	Monocytic Leukemia	BEFREE	24858343		★★★★★ ★☆☆☆☆ Found in Text Mining only
ANOPHTHALMIA AND PULMONARY HYPOPLASIA	Syndromic microphthalmia	BEFREE	23887057		★★★★★ ★☆☆☆☆ Found in Text Mining only
Arteriosclerosis	Arteriosclerosis	BEFREE	25409743		★★★★★ ★☆☆☆☆ Found in Text Mining only
Ataxia Telangiectasia	Ataxia telangiectasia	Pubtator	19430199	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	BEFREE	25409743		★★★★★ ★☆☆☆☆ Found in Text Mining only
Bladder Neoplasm	Bladder Neoplasm	BEFREE	29703843		★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	19890961, 25879784		★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	19890961, 22522925, 25879784, 36781846	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	BEFREE	25879784		★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	35945177, 36378050	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma of bladder	Bladder carcinoma	BEFREE	29703843		★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma, Ovarian Epithelial	Ovarian Epithelial carcinoma	BEFREE	29532877		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	24448818, 26054685		★★★★★ ★☆☆☆☆ Found in Text Mining only
Esophageal Squamous Cell Carcinoma	Esophageal squamous cell carcinoma	Pubtator	36803971	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Germ cell tumor	Tumor	BEFREE	16790090		★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia	Leukemia	Pubtator	24858343, 27531894	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid Acute	Myeloid leukemia	Pubtator	21660042, 24858343, 27531894	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	BEFREE	24858343		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	19890961, 25879784		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of ovary	Ovarian cancer	BEFREE	29532877		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	21872824, 31822657		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	CTD_human_DG	29662167		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of urinary bladder	Urinary bladder cancer	BEFREE	29703843		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	25879784		★★★★★ ★☆☆☆☆ Found in Text Mining only
Melanoma	Melanoma	Pubtator	32767816	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	20103675, 20237410, 23087057, 29703843, 29882471		★★★★★ ★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	23959478		★★★★★ ★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	BEFREE	23563607		★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	BEFREE	31221814		★★★★★ ★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	BEFREE	29532877		★★★★★ ★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	29532877, 39596687	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	34731788	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Prostate cancer, familial	Prostate cancer	BEFREE	21872824		★★★★★ ★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	21872824, 31822657		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Prostatic Neoplasms	Prostatic Neoplasms	LHGDN	18670647		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	18670647, 21872824	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Prostatic Neoplasms	Prostatic Neoplasms	CTD_human_DG	29662167		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Prostatic Neoplasms	Prostatic Neoplasms	BEFREE	31822657		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Urinary Bladder Neoplasms	Urinary bladder neoplasms	Pubtator	26800397	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only

PPP2R2A (protein phosphatase 2 regulatory subunit Balpha)