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

Gene Gene information from NCBI Gene database. Gene SNPs Other IDs Associated diseases
Entrez ID	5528
Gene name	Protein phosphatase 2 regulatory subunit B'delta
Gene symbol	PPP2R5D
Synonyms (NCBI Gene)	B56DB56deltaHJS1MRD35
Chromosome	6
Chromosome location	6p21.1
Summary	The product of this gene belongs to the phosphatase 2A regulatory subunit B family. Protein phosphatase 2A 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 het

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Show/Hide all (102)

miRTarBase ID	miRNA	Experiments	Reference
MIRT040037	hsa-miR-615-3p	CLASH	23622248
MIRT040037	hsa-miR-615-3p	CLASH	23622248
MIRT040037	hsa-miR-615-3p	CLASH	23622248
MIRT035781	hsa-miR-1914-5p	CLASH	23622248
MIRT535065	hsa-miR-371b-3p	PAR-CLIP	20371350
MIRT535064	hsa-miR-6513-3p	PAR-CLIP	20371350
MIRT535063	hsa-miR-6729-3p	PAR-CLIP	20371350
MIRT535062	hsa-miR-6752-3p	PAR-CLIP	20371350
MIRT535061	hsa-miR-1297	PAR-CLIP	20371350
MIRT535060	hsa-miR-26a-5p	PAR-CLIP	20371350
MIRT535059	hsa-miR-26b-5p	PAR-CLIP	20371350
MIRT535058	hsa-miR-4465	PAR-CLIP	20371350
MIRT535057	hsa-miR-3977	PAR-CLIP	20371350
MIRT535065	hsa-miR-371b-3p	PAR-CLIP	22012620
MIRT535064	hsa-miR-6513-3p	PAR-CLIP	22012620
MIRT535063	hsa-miR-6729-3p	PAR-CLIP	22012620
MIRT535062	hsa-miR-6752-3p	PAR-CLIP	22012620
MIRT535061	hsa-miR-1297	PAR-CLIP	22012620
MIRT535060	hsa-miR-26a-5p	PAR-CLIP	22012620
MIRT535059	hsa-miR-26b-5p	PAR-CLIP	22012620
MIRT535058	hsa-miR-4465	PAR-CLIP	22012620
MIRT535057	hsa-miR-3977	PAR-CLIP	22012620
MIRT535065	hsa-miR-371b-3p	PAR-CLIP	20371350
MIRT535064	hsa-miR-6513-3p	PAR-CLIP	20371350
MIRT535063	hsa-miR-6729-3p	PAR-CLIP	20371350
MIRT535062	hsa-miR-6752-3p	PAR-CLIP	20371350
MIRT535061	hsa-miR-1297	PAR-CLIP	20371350
MIRT535060	hsa-miR-26a-5p	PAR-CLIP	20371350
MIRT535059	hsa-miR-26b-5p	PAR-CLIP	20371350
MIRT535058	hsa-miR-4465	PAR-CLIP	20371350
MIRT535057	hsa-miR-3977	PAR-CLIP	20371350
MIRT535065	hsa-miR-371b-3p	PAR-CLIP	22012620
MIRT535064	hsa-miR-6513-3p	PAR-CLIP	22012620
MIRT535063	hsa-miR-6729-3p	PAR-CLIP	22012620
MIRT535062	hsa-miR-6752-3p	PAR-CLIP	22012620
MIRT535061	hsa-miR-1297	PAR-CLIP	22012620
MIRT535060	hsa-miR-26a-5p	PAR-CLIP	22012620
MIRT535059	hsa-miR-26b-5p	PAR-CLIP	22012620
MIRT535058	hsa-miR-4465	PAR-CLIP	22012620
MIRT535057	hsa-miR-3977	PAR-CLIP	22012620
MIRT1258083	hsa-miR-1207-5p	CLIP-seq
MIRT1258084	hsa-miR-1253	CLIP-seq
MIRT1258085	hsa-miR-1539	CLIP-seq
MIRT1258086	hsa-miR-2110	CLIP-seq
MIRT1258087	hsa-miR-3121-3p	CLIP-seq
MIRT1258088	hsa-miR-3126-5p	CLIP-seq
MIRT1258089	hsa-miR-3150a-3p	CLIP-seq
MIRT1258090	hsa-miR-331-3p	CLIP-seq
MIRT1258091	hsa-miR-3619-3p	CLIP-seq
MIRT1258092	hsa-miR-3686	CLIP-seq
MIRT1258093	hsa-miR-4260	CLIP-seq
MIRT1258094	hsa-miR-4277	CLIP-seq
MIRT1258095	hsa-miR-4308	CLIP-seq
MIRT1258096	hsa-miR-4434	CLIP-seq
MIRT1258097	hsa-miR-4516	CLIP-seq
MIRT1258098	hsa-miR-4722-5p	CLIP-seq
MIRT1258099	hsa-miR-4736	CLIP-seq
MIRT1258100	hsa-miR-4763-3p	CLIP-seq
MIRT1258101	hsa-miR-486-3p	CLIP-seq
MIRT1258102	hsa-miR-490-3p	CLIP-seq
MIRT1258103	hsa-miR-939	CLIP-seq
MIRT2076030	hsa-miR-1321	CLIP-seq
MIRT2076031	hsa-miR-1915	CLIP-seq
MIRT2076032	hsa-miR-3664-5p	CLIP-seq
MIRT1258094	hsa-miR-4277	CLIP-seq
MIRT2076033	hsa-miR-4330	CLIP-seq
MIRT2076034	hsa-miR-4446-3p	CLIP-seq
MIRT2076035	hsa-miR-4675	CLIP-seq
MIRT2076036	hsa-miR-4685-5p	CLIP-seq
MIRT2076037	hsa-miR-4739	CLIP-seq
MIRT2076038	hsa-miR-4741	CLIP-seq
MIRT2076039	hsa-miR-4756-5p	CLIP-seq
MIRT2076040	hsa-miR-564	CLIP-seq
MIRT2076041	hsa-miR-623	CLIP-seq
MIRT2076030	hsa-miR-1321	CLIP-seq
MIRT2599299	hsa-miR-1909	CLIP-seq
MIRT2599300	hsa-miR-3162-3p	CLIP-seq
MIRT2599301	hsa-miR-3612	CLIP-seq
MIRT2599302	hsa-miR-4270	CLIP-seq
MIRT2599303	hsa-miR-4441	CLIP-seq
MIRT2599304	hsa-miR-4661-5p	CLIP-seq
MIRT2076037	hsa-miR-4739	CLIP-seq
MIRT2076039	hsa-miR-4756-5p	CLIP-seq
MIRT2599305	hsa-miR-650	CLIP-seq
MIRT2076030	hsa-miR-1321	CLIP-seq
MIRT2599299	hsa-miR-1909	CLIP-seq
MIRT2688476	hsa-miR-1976	CLIP-seq
MIRT2688477	hsa-miR-216a	CLIP-seq
MIRT2688478	hsa-miR-216b	CLIP-seq
MIRT2599300	hsa-miR-3162-3p	CLIP-seq
MIRT2599301	hsa-miR-3612	CLIP-seq
MIRT2688479	hsa-miR-370	CLIP-seq
MIRT2599302	hsa-miR-4270	CLIP-seq
MIRT2599303	hsa-miR-4441	CLIP-seq
MIRT2599304	hsa-miR-4661-5p	CLIP-seq
MIRT2688480	hsa-miR-4710	CLIP-seq
MIRT2076037	hsa-miR-4739	CLIP-seq
MIRT2076039	hsa-miR-4756-5p	CLIP-seq
MIRT2688481	hsa-miR-4792	CLIP-seq
MIRT2688482	hsa-miR-580	CLIP-seq
MIRT2599305	hsa-miR-650	CLIP-seq
MIRT2688483	hsa-miR-9	CLIP-seq

Show/Hide all (19)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000159	Component	Protein phosphatase type 2A complex	IBA
GO:0000159	Component	Protein phosphatase type 2A complex	IEA
GO:0005515	Function	Protein binding	IPI	16189514, 16541025, 17540176, 18782753, 19293187, 21666598, 22976297, 23555304, 24157919, 25416956, 26496610, 27173435, 28330616, 29892012, 30595372, 32296183, 33961781
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IEA
GO:0005634	Component	Nucleus	TAS	8703017
GO:0005654	Component	Nucleoplasm	TAS
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	IBA
GO:0005829	Component	Cytosol	IDA
GO:0005829	Component	Cytosol	TAS
GO:0007165	Process	Signal transduction	IEA
GO:0007399	Process	Nervous system development	TAS	8703017
GO:0019888	Function	Protein phosphatase regulator activity	IDA	24157919
GO:0019888	Function	Protein phosphatase regulator activity	IEA
GO:0019888	Function	Protein phosphatase regulator activity	TAS	8703017
GO:0051177	Process	Meiotic sister chromatid cohesion	IBA
GO:0072542	Function	Protein phosphatase activator activity	IBA
GO:0072542	Function	Protein phosphatase activator activity	IEA

MIM	HGNC	e!Ensembl
601646	9312	ENSG00000112640

Q14738

Protein name

Serine/threonine-protein phosphatase 2A 56 kDa regulatory subunit delta isoform (PP2A B subunit isoform B'-delta) (PP2A B subunit isoform B56-delta) (PP2A B subunit isoform PR61-delta) (PP2A B subunit isoform R5-delta)

Protein function

The B regulatory subunit might modulate substrate selectivity and catalytic activity, and might also direct the localization of the catalytic enzyme to a particular subcellular compartment.

PDB

8U1X , 8U89

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF01603	B56	103 → 513	Protein phosphatase 2A regulatory B subunit (B56 family)	Family

Tissue specificity

TISSUE SPECIFICITY: Isoform Delta-2 is widely expressed. Isoform Delta-1 is highly expressed in brain.

Sequence

MPYKLKKEKEPPKVAKCTAKPSSSGKDGGGENTEEAQPQPQPQPQPQAQSQPPSSNKRPS
NSTPPPTQLSKIKYSGGPQIVKKERRQSSSRFNLSKNRELQKLPALKDSPTQEREELFIQ
KLRQCCVLFDFVSDPLSDLKFKEVKRAGLNEMVEYITHSRDVVTEAIYPEAVTMFSVNLF
RTLPPSSNPTGAEFDPEEDEPTLEAAWPHLQLVYEFFLRFLESPDFQPNIAKKYIDQKFV
LALLDLFDSEDPRERDFLKTILHRIYGKFLGLRAYIRRQINHIFYRFIYETEHHNGIAEL
LEILGSIINGFALPLKEEHKMFLIRVLLPLHKVKSLSVYHPQLAYCVVQFLEKESSLTEP
VIVGLLKFWPKTHSPKEVMFLNELEEILDVIEPSEFSKVMEPLFRQLAKCVSSPHFQVAE
RALYYWNNEYIMSLISDNAARVLPIMFPALYRNSKSHWNKTIHGLIYNALKLFMEMNQKL
FDDCTQQYKAEKQKGRFRMKEREEMWQKIEELARLNPQYPMFRAPPPLPPVYSMETETPT
AEDIQLLKRTVETEAVQMLKDIKKEKVLLRRKSELPQDVYTIKALEAHKRAEEFLTASQE
AL

Sequence length

602

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 Causal Diseases (6)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Encephalopathy	Likely pathogenic	rs2150278773	RCV001526611	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Genetic developmental and epileptic encephalopathy	Likely pathogenic; Pathogenic	rs869320691	RCV005625497	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hogue-Janssens syndrome 1	Likely pathogenic; Pathogenic	rs2150278805, rs2150278470, rs876657383, rs757369209, rs863225079, rs869320691, rs863225081, rs863225080, rs2532476482, rs2532475494, rs2532473884, rs2532475447, rs1064794719, rs1762094766, rs1339608272 View all (3 more)	RCV001808894 RCV002250259 RCV000170483 RCV000201513 RCV000201454 View all (14 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Neurodevelopmental abnormality	Likely pathogenic; Pathogenic	rs1131691266	RCV005236747	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
PPP2R5D-related disorder	Likely pathogenic; Pathogenic	rs863225079, rs863225081	RCV004737321 RCV004553103	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Seizure	Pathogenic	rs1064794719	RCV005241245	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (14)

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	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COMPLEX NEURODEVELOPMENTAL DISORDER	—	ClinGen, GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GLOBAL DEVELOPMENTAL DELAY	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HOUGE-JANSSENS SYNDROME 1	—	CTD, HPO CTD, HPO	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 35	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Intellectual disability	Conflicting classifications of pathogenicity	ClinVar Disgenet	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
INTELLECTUAL DISABILITY, MACROCEPHALY, HYPOTONIA, BEHAVIORAL ABNORMALITIES SYNDROME	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INTELLECTUAL DISABILITY-MACROCEPHALY-HYPOTONIA-BEHAVIORAL ABNORMALITIES SYNDROME	—	Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neurodevelopmental delay	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neurodevelopmental disorder	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEURODEVELOPMENTAL DISORDERS	—	CTD, Disgenet CTD, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NON-SPECIFIC SYNDROMIC INTELLECTUAL DISABILITY	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (42)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Autism Spectrum Disorder	Autism	Pubtator	26576547, 33482199, 37167322, 37572851	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Autism Spectrum Disorders	Autism Spectrum Disorder	BEFREE	26576547		★★★★★ ★☆☆☆☆ Found in Text Mining only
Autism Spectrum Disorders	Autism Spectrum Disorder	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Autistic Disorder	Autism	BEFREE	26576547		★★★★★ ★☆☆☆☆ Found in Text Mining only
Autistic Disorder	Autism	Pubtator	26576547, 37339871	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	28105922	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital Abnormalities	Congenital abnormalities	Pubtator	26576547	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital Dysplasia Of The Hip	Developmental dysplasia of the hip	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital torticollis	Congenital Torticollis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Developmental disability	Pubtator	32743835, 33628804, 34946857, 37339871	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Dysmorphic features	Dysmorphic Features	CLINVAR_DG	20017541, 23033978, 24896178, 25533962, 25972378, 26168268, 26576547, 8703017		★★★★★ ★☆☆☆☆ Found in Text Mining only
Dysmorphic features	Dysmorphic Features	BEFREE	26576547		★★★★★ ★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatitis C	Hepatitis c	Pubtator	35836293	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hydrocephalus	Hydrocephalus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypoglycemia	Hypoglycemia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	GENOMICS_ENGLAND_DG	25533962		★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Intellectual Disability	Intellectual developmental disorder	Pubtator	26168268, 26576547, 33628804, 37167322, 37572851	Associate	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Intellectual Disability	Mental retardation	BEFREE	26576547		★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Intellectual Disability	Mental retardation	HPO_DG			★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome	Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome	Orphanet			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Macrocephaly	Macrocephaly	BEFREE	26576547		★★★★★ ★☆☆☆☆ Found in Text Mining only
Macrocephaly	Macrocephaly	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
MENTAL RETARDATION, AUTOSOMAL DOMINANT 35	Mental retardation	UNIPROT_DG	25533962, 26168268		★★★★★ ★☆☆☆☆ Found in Text Mining only
MENTAL RETARDATION, AUTOSOMAL DOMINANT 35	Mental retardation	CLINVAR_DG	25972378, 26168268		★★★★★ ★☆☆☆☆ Found in Text Mining only
MENTAL RETARDATION, AUTOSOMAL DOMINANT 35	Mental retardation	GENOMICS_ENGLAND_DG	25972378		★★★★★ ★☆☆☆☆ Found in Text Mining only
MENTAL RETARDATION, AUTOSOMAL DOMINANT 35	Mental retardation	ORPHANET_DG	26168268		★★★★★ ★☆☆☆☆ Found in Text Mining only
MENTAL RETARDATION, AUTOSOMAL DOMINANT 35	Mental retardation	CTD_human_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Moderate intellectual disability	Mental retardation	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Motor Skills Disorders	Motor skills disorder	Pubtator	37572851	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple sclerosis	Pubtator	34889895	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Myopia	Myopia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Neurodevelopmental Disorders	Neurodevelopmental Disorders	CTD_human_DG	28191889		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Osteogenesis imperfecta type 2A	Osteogenesis imperfecta	Pubtator	26168268	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	LHGDN	15809743		★★★★★ ★☆☆☆☆ Found in Text Mining only
Parkinson Disease Secondary	Secondary parkinson disease	Pubtator	32743835	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Pervasive Development Disorder	Autism spectrum disorder	BEFREE	26576547		★★★★★ ★☆☆☆☆ Found in Text Mining only
Psychomotor Disorders	Psychiatric disorders	Pubtator	34946857	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Seizures	Seizures	Pubtator	26576547, 37572851	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Speech Delay	Speech Delay	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	34135559	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Strabismus	Strabismus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only

PPP2R5D (protein phosphatase 2 regulatory subunit B'delta)