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

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID	9701
Gene name	Protein phosphatase 6 regulatory subunit 2
Gene symbol	PPP6R2
Synonyms (NCBI Gene)	KIAA0685PP6R2SAP190SAPS2
Chromosome	22
Chromosome location	22q13.33
Summary	The protein encoded by this gene is a regulatory protein for the protein phosphatase-6 catalytic subunit. Together, these proteins act as a significant T-loop phosphatase for Aurora A, an essential mitotic kinase. Loss of function of either the regulatory

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miRTarBase ID	miRNA	Experiments	Reference
MIRT020206	hsa-miR-130b-3p	Sequencing	20371350
MIRT028045	hsa-miR-93-5p	Sequencing	20371350
MIRT031168	hsa-miR-19b-3p	Sequencing	20371350
MIRT049474	hsa-miR-92a-3p	CLASH	23622248
MIRT045533	hsa-miR-149-5p	CLASH	23622248
MIRT1258777	hsa-miR-106a	CLIP-seq
MIRT1258778	hsa-miR-106b	CLIP-seq
MIRT1258779	hsa-miR-1225-5p	CLIP-seq
MIRT1258780	hsa-miR-1226	CLIP-seq
MIRT1258781	hsa-miR-1287	CLIP-seq
MIRT1258782	hsa-miR-130a	CLIP-seq
MIRT1258783	hsa-miR-130b	CLIP-seq
MIRT1258784	hsa-miR-17	CLIP-seq
MIRT1258785	hsa-miR-1914	CLIP-seq
MIRT1258786	hsa-miR-196a	CLIP-seq
MIRT1258787	hsa-miR-196b	CLIP-seq
MIRT1258788	hsa-miR-19a	CLIP-seq
MIRT1258789	hsa-miR-19b	CLIP-seq
MIRT1258790	hsa-miR-20a	CLIP-seq
MIRT1258791	hsa-miR-20b	CLIP-seq
MIRT1258792	hsa-miR-22	CLIP-seq
MIRT1258793	hsa-miR-2276	CLIP-seq
MIRT1258794	hsa-miR-301a	CLIP-seq
MIRT1258795	hsa-miR-301b	CLIP-seq
MIRT1258796	hsa-miR-3132	CLIP-seq
MIRT1258797	hsa-miR-3613-3p	CLIP-seq
MIRT1258798	hsa-miR-3666	CLIP-seq
MIRT1258799	hsa-miR-4275	CLIP-seq
MIRT1258800	hsa-miR-4295	CLIP-seq
MIRT1258801	hsa-miR-4453	CLIP-seq
MIRT1258802	hsa-miR-4538	CLIP-seq
MIRT1258803	hsa-miR-454	CLIP-seq
MIRT1258804	hsa-miR-4677-3p	CLIP-seq
MIRT1258805	hsa-miR-4708-3p	CLIP-seq
MIRT1258806	hsa-miR-4711-5p	CLIP-seq
MIRT1258807	hsa-miR-4733-3p	CLIP-seq
MIRT1258808	hsa-miR-491-3p	CLIP-seq
MIRT1258809	hsa-miR-519a	CLIP-seq
MIRT1258810	hsa-miR-519b-3p	CLIP-seq
MIRT1258811	hsa-miR-519c-3p	CLIP-seq
MIRT1258812	hsa-miR-519d	CLIP-seq
MIRT1258813	hsa-miR-520d-5p	CLIP-seq
MIRT1258814	hsa-miR-520g	CLIP-seq
MIRT1258815	hsa-miR-520h	CLIP-seq
MIRT1258816	hsa-miR-524-5p	CLIP-seq
MIRT1258817	hsa-miR-586	CLIP-seq
MIRT1258818	hsa-miR-93	CLIP-seq
MIRT1258819	hsa-miR-1204	CLIP-seq
MIRT1258820	hsa-miR-15a	CLIP-seq
MIRT1258821	hsa-miR-15b	CLIP-seq
MIRT1258822	hsa-miR-16	CLIP-seq
MIRT1258823	hsa-miR-1827	CLIP-seq
MIRT1258824	hsa-miR-195	CLIP-seq
MIRT1258825	hsa-miR-3173-3p	CLIP-seq
MIRT1258826	hsa-miR-3612	CLIP-seq
MIRT1258827	hsa-miR-424	CLIP-seq
MIRT1258828	hsa-miR-4293	CLIP-seq
MIRT1258829	hsa-miR-4428	CLIP-seq
MIRT1258830	hsa-miR-4477b	CLIP-seq
MIRT1258831	hsa-miR-4695-5p	CLIP-seq
MIRT1258832	hsa-miR-4743	CLIP-seq
MIRT1258833	hsa-miR-497	CLIP-seq
MIRT1258834	hsa-miR-541	CLIP-seq
MIRT1258835	hsa-miR-650	CLIP-seq
MIRT1258836	hsa-miR-654-5p	CLIP-seq
MIRT1552540	hsa-miR-1202	CLIP-seq
MIRT1552541	hsa-miR-1305	CLIP-seq
MIRT1552542	hsa-miR-3194-5p	CLIP-seq
MIRT1552543	hsa-miR-3972	CLIP-seq
MIRT1552540	hsa-miR-1202	CLIP-seq
MIRT1552541	hsa-miR-1305	CLIP-seq
MIRT1552542	hsa-miR-3194-5p	CLIP-seq
MIRT1552543	hsa-miR-3972	CLIP-seq
MIRT1552540	hsa-miR-1202	CLIP-seq
MIRT1552541	hsa-miR-1305	CLIP-seq
MIRT1552542	hsa-miR-3194-5p	CLIP-seq
MIRT1552543	hsa-miR-3972	CLIP-seq
MIRT2302841	hsa-miR-4707-5p	CLIP-seq
MIRT1552540	hsa-miR-1202	CLIP-seq
MIRT1552541	hsa-miR-1305	CLIP-seq
MIRT1552542	hsa-miR-3194-5p	CLIP-seq
MIRT1552543	hsa-miR-3972	CLIP-seq

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GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	14743216, 16769727, 18186651, 21187329, 24255178, 26787460, 28330616, 32814053, 33961781, 35271311
GO:0005634	Component	Nucleus	IBA
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	IBA
GO:0005829	Component	Cytosol	IDA
GO:0009966	Process	Regulation of signal transduction	IBA
GO:0019888	Function	Protein phosphatase regulator activity	IBA
GO:0019888	Function	Protein phosphatase regulator activity	IDA	16769727
GO:0019903	Function	Protein phosphatase binding	IEA
GO:0036464	Component	Cytoplasmic ribonucleoprotein granule	IDA

MIM	HGNC	e!Ensembl
610877	19253	ENSG00000100239

O75170

Protein name

Serine/threonine-protein phosphatase 6 regulatory subunit 2 (SAPS domain family member 2)

Protein function

Regulatory subunit of protein phosphatase 6 (PP6). May function as a scaffolding PP6 subunit. Involved in the PP6-mediated dephosphorylation of NFKBIE opposing its degradation in response to TNF-alpha.

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF04499	SAPS	128 → 365	SIT4 phosphatase-associated protein	Family
PF04499	SAPS	362 → 532	SIT4 phosphatase-associated protein	Family

Tissue specificity

TISSUE SPECIFICITY: Ubiquitously expressed with strongest expression in the testis followed by liver, heart, kidney, brain and placenta. {ECO:0000269|PubMed:16769727}.

Sequence

MFWKFDLNTTSHVDKLLDKEHVTLQELMDEDDILQECKAQNQKLLDFLCRQQCMEELVSL
ITQDPPLDMEEKVRFKYPNTACELLTCDVPQISDRLGGDESLLSLLYDFLDHEPPLNPLL
ASFFSKTIGNLIARKTEQVITFLKKKDKFISLVLKHIGTSALMDLLLRLVSCVEPAGLRQ
DVLHWLNEEKVIQRLVELIHPSQDEDRQSNASQTLCDIVRLGRDQGSQLQEALEPDPLLT
ALESQDCVEQLLKNMFDGDRTESCLVSGTQVLLTLLETRRVGTEGLVDSFSQGLERSYAV
SSSVLHGIEPRLKDFHQLLLNPPKKKAILTTIGVLEEPLGNARLHGARLMAALLHTNTPS
INQELCRLNTMDLLLDLFFKYTWNNFLHFQVELCIAAILSHAAREERTEASGSESRVEPP
HENGNRSLETPQPAASLPDNTMVTHLFQKCCLVQRILEAWEANDHTQAAGGMRRGNMGHL
TRIANAVVQNLERGPVQTHISEVIRGLPADCRGRWESFVEETLTETNRRNTVDLVSTHHL
HSSSEDEDIEGAFPNELSLQQAFSDYQIQQMTANFVDQFGFNDEEFADQDDNINAPFDRI
AEINFNIDADEDSPSAALFEACCSDRIQPFDDDEDEDIWEDSDTRCAARVMARPRFGAPH
ASESCSKNGPERGGQDGKASLEAHRDAPGAGAPPAPGKKEAPPVEGDSEGAMWTAVFDEP
ANSTPTAPGVVRDVGSSVWAAGTSAPEEKGWAKFTDFQPFCCSESGPRCSSPVDTECSHA
EGSRSQGPEKASQASYFAVSPASPCAWNVCVTRKAPLLASDSSSSGGSHSEDGDQKAASA
MDAVSRGPGREAPPLPTVARTEEAVGRVGCADSRLLSPACPAPKEVTAAPAVAVPPEATV
AITTALSKAGPAIPTPAVSSALAVAVPLGPIMAVTAAPAMVATLGTVTKDGKTDAPPEGA
ALNGPV

Sequence length

966

Interactions

View interactions

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 (5)

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.
ALZHEIMER DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHARCOT-MARIE-TOOTH DISEASE TYPE 4B3	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLOR VISION DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PARKINSON DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Prostate cancer	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (18)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Breast Diseases	Breast disease	Pubtator	21451261	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	21451261	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular Diseases	BEFREE	29162037		★★★★★ ★☆☆☆☆ Found in Text Mining only
Chronic Liver Failure	Liver failure	BEFREE	29995791		★★★★★ ★☆☆☆☆ Found in Text Mining only
End Stage Liver Disease	End Stage Liver Disease	BEFREE	21384509, 29995791		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	BEFREE	27892596		★★★★★ ★☆☆☆☆ Found in Text Mining only
Kidney Failure, Acute	Kidney Failure	BEFREE	29614507		★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukopenia	Leukopenia	BEFREE	28293420		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	28293420		★★★★★ ★☆☆☆☆ Found in Text Mining only
Myasthenia Gravis	Myasthenia Gravis	BEFREE	30696470		★★★★★ ★☆☆☆☆ Found in Text Mining only
Myasthenia Gravis	Myasthenia gravis	Pubtator	30696470	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial Infarction	BEFREE	28906362		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neutropenia	Neutropenia	BEFREE	28293420		★★★★★ ★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	Pubtator	35589784	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Ophthalmoplegia	Ophthalmoplegia	Pubtator	30696470	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Respiratory Failure	Respiratory Failure	BEFREE	30666472		★★★★★ ★☆☆☆☆ Found in Text Mining only
Septicemia	Septicemia	BEFREE	18263805, 30245121, 31553738		★★★★★ ★☆☆☆☆ Found in Text Mining only
Status Epilepticus	Status Epilepticus	BEFREE	30585317		★★★★★ ★☆☆☆☆ Found in Text Mining only

PPP6R2 (protein phosphatase 6 regulatory subunit 2)