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

Gene Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	56623
Gene name Gene Name - the full gene name approved by the HGNC.	Inositol polyphosphate-5-phosphatase E
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	INPP5E
Synonyms (NCBI Gene) Gene synonyms aliases	CORS1, CPD4, JBTS1, MORMS, PPI5PIV, pharbin
Chromosome Chromosome number	9
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	9q34.3
Summary Summary of gene provided in NCBI Entrez Gene.	The protein encoded by this gene is an inositol 1,4,5-trisphosphate (InsP3) 5-phosphatase. InsP3 5-phosphatases hydrolyze Ins(1,4,5)P3, which mobilizes intracellular calcium and acts as a second messenger mediating cell responses to various stimulation. S

Show/Hide all(31)

SNP ID	Visualize variation	Clinical significance	Consequence
rs13297509	G>A,T	Pathogenic, likely-benign	Missense variant, non coding transcript variant, coding sequence variant, synonymous variant
rs121918127	G>A,C	Pathogenic	3 prime UTR variant, non coding transcript variant, stop gained, coding sequence variant, missense variant
rs121918128	C>T	Pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs121918129	C>T	Pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs121918130	G>A,T	Likely-pathogenic, pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs142759730	G>A	Likely-pathogenic	Missense variant, non coding transcript variant, 3 prime UTR variant, coding sequence variant
rs147967974	G>C	Conflicting-interpretations-of-pathogenicity, likely-benign	Missense variant, non coding transcript variant, coding sequence variant
rs199956627	G>A	Likely-pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs746212325	C>A,G,T	Pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs746867724	G>A	Pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs752300607	C>T	Pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs754637179	G>A	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, non coding transcript variant, missense variant
rs756789619	G>A	Likely-pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs757222534	C>A,T	Pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs774331779	C>T	Likely-pathogenic	Synonymous variant, coding sequence variant, non coding transcript variant
rs775518991	A>-	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs779450345	C>-,CC	Likely-pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs780882740	C>T	Pathogenic	Coding sequence variant, missense variant, non coding transcript variant
rs863225197	T>C	Pathogenic	Coding sequence variant, missense variant, non coding transcript variant
rs863225198	G>A	Pathogenic	Coding sequence variant, missense variant, non coding transcript variant
rs863225199	GT>-	Pathogenic	Genic downstream transcript variant, 3 prime UTR variant, coding sequence variant, downstream transcript variant, frameshift variant
rs863225200	C>G,T	Pathogenic	Coding sequence variant, missense variant, non coding transcript variant
rs863225201	C>A	Pathogenic	Coding sequence variant, missense variant, non coding transcript variant
rs863225202	A>G	Pathogenic	Coding sequence variant, missense variant, non coding transcript variant
rs886041204	->C	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1024279229	G>A	Likely-pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs1057517749	T>C	Likely-pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs1332623576	G>-	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs1431917892	C>-	Likely-pathogenic	Downstream transcript variant, 3 prime UTR variant, genic downstream transcript variant, coding sequence variant, frameshift variant
rs1564430716	A>C	Pathogenic	Stop gained, intron variant, non coding transcript variant, coding sequence variant
rs1588830568	C>T	Likely-pathogenic	Coding sequence variant, 3 prime UTR variant, missense variant, non coding transcript variant

Show/Hide all(52)

miRTarBase ID	miRNA	Experiments	Reference
MIRT039344	hsa-miR-425-5p	CLASH	23622248
MIRT1067380	hsa-miR-1	CLIP-seq
MIRT1067381	hsa-miR-1273f	CLIP-seq
MIRT1067382	hsa-miR-1284	CLIP-seq
MIRT1067383	hsa-miR-1293	CLIP-seq
MIRT1067384	hsa-miR-1302	CLIP-seq
MIRT1067385	hsa-miR-1304	CLIP-seq
MIRT1067386	hsa-miR-1305	CLIP-seq
MIRT1067387	hsa-miR-206	CLIP-seq
MIRT1067388	hsa-miR-3184	CLIP-seq
MIRT1067389	hsa-miR-330-3p	CLIP-seq
MIRT1067390	hsa-miR-335	CLIP-seq
MIRT1067391	hsa-miR-342-5p	CLIP-seq
MIRT1067392	hsa-miR-3650	CLIP-seq
MIRT1067393	hsa-miR-3673	CLIP-seq
MIRT1067394	hsa-miR-423-5p	CLIP-seq
MIRT1067395	hsa-miR-4298	CLIP-seq
MIRT1067396	hsa-miR-4459	CLIP-seq
MIRT1067397	hsa-miR-4483	CLIP-seq
MIRT1067398	hsa-miR-4651	CLIP-seq
MIRT1067399	hsa-miR-4664-5p	CLIP-seq
MIRT1067400	hsa-miR-4755-3p	CLIP-seq
MIRT1067401	hsa-miR-498	CLIP-seq
MIRT1067402	hsa-miR-608	CLIP-seq
MIRT1067403	hsa-miR-613	CLIP-seq
MIRT1067404	hsa-miR-665	CLIP-seq
MIRT1067385	hsa-miR-1304	CLIP-seq
MIRT1067388	hsa-miR-3184	CLIP-seq
MIRT2016317	hsa-miR-326	CLIP-seq
MIRT2016318	hsa-miR-330-5p	CLIP-seq
MIRT2016319	hsa-miR-378g	CLIP-seq
MIRT1067394	hsa-miR-423-5p	CLIP-seq
MIRT2016320	hsa-miR-4437	CLIP-seq
MIRT2016321	hsa-miR-4667-5p	CLIP-seq
MIRT2016322	hsa-miR-4674	CLIP-seq
MIRT2016323	hsa-miR-4700-5p	CLIP-seq
MIRT1067400	hsa-miR-4755-3p	CLIP-seq
MIRT2016324	hsa-miR-4787-5p	CLIP-seq
MIRT2016325	hsa-miR-637	CLIP-seq
MIRT2016326	hsa-miR-760	CLIP-seq
MIRT1067385	hsa-miR-1304	CLIP-seq
MIRT2248620	hsa-miR-139-3p	CLIP-seq
MIRT1067388	hsa-miR-3184	CLIP-seq
MIRT2248621	hsa-miR-3940-3p	CLIP-seq
MIRT1067394	hsa-miR-423-5p	CLIP-seq
MIRT2248622	hsa-miR-4436b-5p	CLIP-seq
MIRT1067396	hsa-miR-4459	CLIP-seq
MIRT2248623	hsa-miR-4530	CLIP-seq
MIRT1067400	hsa-miR-4755-3p	CLIP-seq
MIRT2248624	hsa-miR-616	CLIP-seq
MIRT1067404	hsa-miR-665	CLIP-seq
MIRT2248625	hsa-miR-671-3p	CLIP-seq

Show/Hide all(46)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000139	Component	Golgi membrane	IEA
GO:0001726	Component	Ruffle	IEA
GO:0004439	Function	Phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity	IBA
GO:0004439	Function	Phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity	IEA
GO:0004439	Function	Phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity	TAS
GO:0004445	Function	Inositol-polyphosphate 5-phosphatase activity	IEA
GO:0004445	Function	Inositol-polyphosphate 5-phosphatase activity	TAS	10764818
GO:0005515	Function	Protein binding	IPI	28514442, 33961781, 35271311, 36931259
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IEA
GO:0005634	Component	Nucleus	ISS
GO:0005737	Component	Cytoplasm	IEA
GO:0005794	Component	Golgi apparatus	IBA
GO:0005794	Component	Golgi apparatus	IEA
GO:0005829	Component	Cytosol	TAS
GO:0005856	Component	Cytoskeleton	IEA
GO:0005886	Component	Plasma membrane	IEA
GO:0005929	Component	Cilium	IEA
GO:0005929	Component	Cilium	TAS
GO:0005930	Component	Axoneme	IBA
GO:0005930	Component	Axoneme	IDA	19668215
GO:0005930	Component	Axoneme	IEA
GO:0006629	Process	Lipid metabolic process	IEA
GO:0006661	Process	Phosphatidylinositol biosynthetic process	TAS
GO:0006796	Process	Phosphate-containing compound metabolic process	IEA
GO:0016020	Component	Membrane	IEA
GO:0016314	Function	Phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity	IEA
GO:0016787	Function	Hydrolase activity	IEA
GO:0016791	Function	Phosphatase activity	IEA
GO:0017148	Process	Negative regulation of translation	IEA
GO:0019637	Process	Organophosphate metabolic process	IEA
GO:0032580	Component	Golgi cisterna membrane	IEA
GO:0034485	Function	Phosphatidylinositol-3,4,5-trisphosphate 5-phosphatase activity	IEA
GO:0036092	Process	Phosphatidylinositol-3-phosphate biosynthetic process	IEA
GO:0042995	Component	Cell projection	IEA
GO:0043813	Function	Phosphatidylinositol-3,5-bisphosphate 5-phosphatase activity	IEA
GO:0046488	Process	Phosphatidylinositol metabolic process	IEA
GO:0046856	Process	Phosphatidylinositol dephosphorylation	IBA
GO:0046856	Process	Phosphatidylinositol dephosphorylation	IEA
GO:0046856	Process	Phosphatidylinositol dephosphorylation	IEA
GO:0051898	Process	Negative regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction	IEA
GO:0060271	Process	Cilium assembly	IEA
GO:0106019	Function	Phosphatidylinositol-4,5-bisphosphate phosphatase activity	IEA
GO:0120025	Component	Plasma membrane bounded cell projection	IEA
GO:1902140	Process	Response to inositol	IEA
GO:1903565	Process	Negative regulation of protein localization to cilium	IEA

MIM	HGNC	e!Ensembl
613037	21474	ENSG00000148384

Protein

UniProt ID

Q9NRR6

Protein name

Phosphatidylinositol polyphosphate 5-phosphatase type IV (72 kDa inositol polyphosphate 5-phosphatase) (Inositol polyphosphate-5-phosphatase E) (Phosphatidylinositol 4,5-bisphosphate 5-phosphatase) (EC 3.1.3.36) (Phosphatidylinositol-3,4,5-trisphosphate 5

Protein function

Phosphatidylinositol (PtdIns) phosphatase that specifically hydrolyzes the 5-phosphate of phosphatidylinositol-3,4,5-trisphosphate (PtdIns(3,4,5)P3), phosphatidylinositol 4,5-bisphosphate (PtdIns(4,5)P2) and phosphatidylinositol 3,5-bisphosphate

PDB

2XSW

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF03372	Exo_endo_phos	304 → 584	Endonuclease/Exonuclease/phosphatase family	Domain

Tissue specificity

TISSUE SPECIFICITY: Detected in brain, heart, pancreas, testis and spleen. {ECO:0000269|PubMed:10764818}.

Sequence

MPSKAENLRPSEPAPQPPEGRTLQGQLPGAPPAQRAGSPPDAPGSESPALACSTPATPSG
EDPPARAAPIAPRPPARPRLERALSLDDKGWRRRRFRGSQEDLEARNGTSPSRGSVQSEG
PGAPAHSCSPPCLSTSLQEIPKSRGVLSSERGSPSSGGNPLSGVASSSPNLPHRDAAVAG
SSPRLPSLLPPRPPPALSLDIASDSLRTANKVDSDLADYKLRAQPLLVRAHSSLGPGRPR
SPLACDDCSLRSAKSSFSLLAPIRSKDVRSRSYLEGSLLASGALLGADELARYFPDRNVA
LFVATWNMQGQKELPPSLDEFLLPAEADYAQDLYVIGVQEGCSDRREWETRLQETLGPHY
VLLSSAAHGVLYMSLFIRRDLIWFCSEVECSTVTTRIVSQIKTKGALGISFTFFGTSFLF
ITSHFTSGDGKVAERLLDYTRTVQALVLPRNVPDTNPYRSSAADVTTRFDEVFWFGDFNF
RLSGGRTVVDALLCQGLVVDVPALLQHDQLIREMRKGSIFKGFQEPDIHFLPSYKFDIGK
DTYDSTSKQRTPSYTDRVLYRSRHKGDICPVSYSSCPGIKTSDHRPVYGLFRVKVRPGRD
NIPLAAGKFDRELYLLGIKRRISKEIQRQQALQSQNSSTICSVS

Sequence length

644

Interactions

View interactions

	KEGG		Reactome
	Inositol phosphate metabolism Metabolic pathways Phosphatidylinositol signaling system		Synthesis of PIPs at the Golgi membrane ARL13B-mediated ciliary trafficking of INPP5E

Show/Hide Causal Diseases (6)

Disease merge term	Disease name	dbSNP ID	References
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Cerebellar vermis agenesis	familial aplasia of the vermis	rs1588830568, rs863225198, rs779450345, rs121918130, rs754637179, rs771866500, rs863225199, rs756789619, rs1564430716, rs775518991, rs1431917892, rs13297509, rs142759730, rs752300607, rs863225202, rs121918129, rs863225200 View all (2 more)	N/A
Joubert Syndrome	Joubert syndrome and related disorders, joubert syndrome 1	rs863225200, rs779450345, rs121918130, rs756789619, rs771866500, rs13297509, rs121918128, rs1588830568, rs121918129, rs142759730	N/A
MORM Syndrome	morm syndrome	rs121918127, rs142759730	N/A
retinal dystrophy	Retinal dystrophy	rs779450345, rs121918129	N/A
Rod-cone dystrophy	rod-cone dystrophy	rs775518991, rs142759730, rs752300607, rs1588830568	N/A
Leber Congenital Amaurosis	leber congenital amaurosis	rs1588830568	N/A

Show/Hide Unknown Diseases (4)

Disease merge term	Disease name	Evidence	References	Source
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Inflammatory Bowel Disease	Inflammatory bowel disease (MTAG)	N/A	N/A	GWAS
Joubert syndrome with congenital hepatic fibrosis	COACH syndrome 1	N/A	N/A	GenCC
Joubert Syndrome With Ocular Defect	Joubert syndrome with ocular defect	N/A	N/A	GenCC
Optic Atrophy	optic atrophy	N/A	N/A	ClinVar

Show/Hide Text Mining Associations (25)

Disease Name	Relationship Type	References
Associations from Text Mining Disease associations identified through Pubtator
Agenesis of Cerebellar Vermis	Associate	12908130, 15060101, 15786477, 23386033, 25395580, 29052317, 37735380, 37910852
Agenesis of Corpus Callosum	Associate	33270637
Amenorrhea	Associate	34211432
Bardet Biedl Syndrome	Associate	21642631
Ciliopathies	Associate	21068128, 25395580
Coloboma	Associate	23386033
Colorectal Neoplasms	Associate	29257251
Cone Rod Dystrophies	Associate	29555955, 34211432
Developmental Disabilities	Associate	33168985
Dyslipidemias	Associate	34211432
Glaucoma 3 Primary Congenital A	Associate	39337513
Glioma	Associate	37830570
Hyperinsulinism	Associate	34211432
Hypertension	Associate	34211432
Hypertensive Retinopathy	Associate	23386033
Inflammatory Bowel Diseases	Associate	25766683
Insulin Resistance	Associate	34211432
MORM syndrome	Associate	25395580, 34211432
Nephronophthisis familial juvenile	Associate	33306870
Obesity	Associate	34211432
Oculocerebrorenal Syndrome	Associate	12428211, 9430698
Retinitis Pigmentosa	Associate	25999675, 33808286
Senior Loken Syndrome	Associate	33306870
Sleep Apnea Syndromes	Associate	34211432
Spondylitis Ankylosing	Associate	39213249

INPP5E (inositol polyphosphate-5-phosphatase E)