Gene Gene information from NCBI Gene database.
Entrez ID 3633
Gene name Inositol polyphosphate-5-phosphatase B
Gene symbol INPP5B
Synonyms (NCBI Gene)
5PTase
Chromosome 1
Chromosome location 1p34.3
Summary This gene encodes a member of a family of inositol polyphosphate-5-phosphatases. These enzymes function in the regulation of calcium signaling by inactivating inositol phosphates. The encoded protein is localized to the cytosol and mitochondria, and assoc
miRNA miRNA information provided by mirtarbase database.
464
miRTarBase ID miRNA Experiments Reference
MIRT030250 hsa-miR-26b-5p Microarray 19088304
MIRT692726 hsa-miR-1537-3p HITS-CLIP 23313552
MIRT692725 hsa-miR-187-3p HITS-CLIP 23313552
MIRT692724 hsa-miR-1284 HITS-CLIP 23313552
MIRT692723 hsa-miR-4796-5p HITS-CLIP 23313552
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
39
GO ID Ontology Definition Evidence Reference
GO:0001701 Process In utero embryonic development IEA
GO:0004439 Function Phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity IBA
GO:0004439 Function Phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity IDA 7721860
GO:0004439 Function Phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity IEA
GO:0005515 Function Protein binding IPI 21233288, 25869668
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
147264 6077 ENSG00000204084
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P32019
Protein name Type II inositol 1,4,5-trisphosphate 5-phosphatase (EC 3.1.3.36) (75 kDa inositol polyphosphate-5-phosphatase) (Phosphoinositide 5-phosphatase) (5PTase)
Protein function Hydrolyzes phosphatidylinositol 4,5-bisphosphate (PtIns(4,5)P2) and the signaling molecule phosphatidylinositol 1,4,5-trisphosphate (PtIns(1,4,5)P3), and thereby modulates cellular signaling events.
PDB 3MTC , 3N9V , 4CML , 5A7I , 5A7J
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF16776 INPP5B_PH 1 149 Type II inositol 1,4,5-trisphosphate 5-phosphatase PH domain Domain
PF03372 Exo_endo_phos 350 629 Endonuclease/Exonuclease/phosphatase family Domain
PF00620 RhoGAP 830 972 RhoGAP domain Domain
Tissue specificity TISSUE SPECIFICITY: Platelets.
Sequence
MDQSVAIQETLAEGEYCVIAVQGVLCEGDSRQSRLLGLVRYRLEHGGQEHALFLYTHRRM
AITGDDVSLDQIVPVSRDFTLEEVSPDGELYILGSDVTVQLDTAELSLVFQLPFGSQTRM
FLHEVARACPGFDSATRDPEFLWLSRYRC
AELELEMPTPRGCNSALVTWPGYATIGGGRY
PSRKKRWGLEEARPQGAGSVLFWGGAMEKTGFRLMERAHGGGFVWGRSARDGRRDEELEE
AGREMSAAAGSRERNTAGGSNFDGLRPNGKGVPMDQSSRGQDKPESLQPRQNKSKSEITD
MVRSSTITVSDKAHILSMQKFGLRDTIVKSHLLQKEEDYTYIQNFRFFAGTYNVNGQSPK
ECLRLWLSNGIQAPDVYCVGFQELDLSKEAFFFHDTPKEEEWFKAVSEGLHPDAKYAKVK
LIRLVGIMLLLYVKQEHAAYISEVEAETVGTGIMGRMGNKGGVAIRFQFHNTSICVVNSH
LAAHIEEYERRNQDYKDICSRMQFCQPDPSLPPLTISNHDVILWLGDLNYRIEELDVEKV
KKLIEEKDFQMLYAYDQLKIQVAAKTVFEGFTEGELTFQPTYKYDTGSDDWDTSEKCRAP
AWCDRILWKGKNITQLSYQSHMALKTSDH
KPVSSVFDIGVRVVNDELYRKTLEEIVRSLD
KMENANIPSVSLSKREFCFQNVKYMQLKVESFTIHNGQVPCHFEFINKPDEESYCKQWLN
ANPSRGFLLPDSDVEIDLELFVNKMTATKLNSGEDKIEDILVLHLDRGKDYFLSVSGNYL
PSCFGSPIHTLCYMREPILDLPLETISELTLMPVWTGDDGSQLDSPMEIPKELWMMVDYL
YRNAVQQEDLFQQPGLRSEFEHIRDCLDTGMIDNLSASNHSVAEALLLFLESLPEPVICY
STYHNCLECSGNYTASKQVISTLPIFHKNVFHYLMAFLRELLKNSAKNHLDENILASIFG
SLLLRNPAGHQK
LDMTEKKKAQEFIHQFLCNPL
Sequence length 993
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Inositol phosphate metabolism
Metabolic pathways
Phosphatidylinositol signaling system
  Synthesis of IP2, IP, and Ins in the cytosol
Synthesis of IP3 and IP4 in the cytosol
Rho GTPase cycle
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
17
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 Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Dent disease type 2 Likely pathogenic rs773387490 RCV000662295
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
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.
Phenotype Name Clinical Significance Source Evidence Score
ALZHEIMER DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
AUTOIMMUNE THYROID DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BASAL CELL CARCINOMA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
COLORECTAL CANCER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Amyotrophic Lateral Sclerosis Amyotrophic Lateral Sclerosis BEFREE 28051077
★☆☆☆☆
Found in Text Mining only
Atrophy of testis Testicular atrophy BEFREE 9593760
★☆☆☆☆
Found in Text Mining only
Cataract Cataract BEFREE 23805271
★☆☆☆☆
Found in Text Mining only
Dent Disease 2 Dent`s Disease CLINVAR_DG 28018608
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Familial aplasia of the vermis Cerebellar vermis agenesis BEFREE 27927754
★☆☆☆☆
Found in Text Mining only
Glaucoma Glaucoma BEFREE 23805271
★☆☆☆☆
Found in Text Mining only
Glioblastoma Glioblastoma BEFREE 30695232
★☆☆☆☆
Found in Text Mining only
Glioblastoma Multiforme Glioblastoma BEFREE 30695232
★☆☆☆☆
Found in Text Mining only
Hypothyroidism Hypothyroidism GWASCAT_DG 30595370
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Mild cognitive disorder Cognitive disorder BEFREE 28190456
★☆☆☆☆
Found in Text Mining only