Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
22876
Gene name Gene Name - the full gene name approved by the HGNC.
Inositol polyphosphate-5-phosphatase F
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
INPP5F
Synonyms (NCBI Gene) Gene synonyms aliases
MSTP007, MSTPO47, SAC2, hSAC2
Chromosome Chromosome number
10
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
10q26.11
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 and contains a Sac domain. The activity of this protein is specific for phosphatidylinositol 4,5-bisphosphate and phosphatidylinositol 3,4,5-trisphosphate. Alternati
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT002802 hsa-miR-1-3p Microarray 15685193
MIRT018546 hsa-miR-335-5p Microarray 18185580
MIRT020983 hsa-miR-155-5p Reporter assay;Other 20584899
MIRT002802 hsa-miR-1-3p Microarray 18668037
MIRT002802 hsa-miR-1-3p Microarray 15685193
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0001921 Process Positive regulation of receptor recycling IDA 25869669
GO:0005515 Function Protein binding IPI 25476455
GO:0005769 Component Early endosome IBA 21873635
GO:0005769 Component Early endosome IDA 25869669
GO:0005905 Component Clathrin-coated pit IDA 25869669
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
609389 17054 ENSG00000198825
Protein
UniProt ID Q9Y2H2
Protein name Phosphatidylinositide phosphatase SAC2 (EC 3.1.3.25) (Inositol polyphosphate 5-phosphatase F) (Sac domain-containing inositol phosphatase 2) (Sac domain-containing phosphoinositide 4-phosphatase 2) (hSAC2)
Protein function Inositol 4-phosphatase which mainly acts on phosphatidylinositol 4-phosphate. May be functionally linked to OCRL, which converts phosphatidylinositol 4,5-bisphosphate to phosphatidylinositol, for a sequential dephosphorylation of phosphatidylino
PDB 4XUU
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF02383 Syja_N 49 415 SacI homology domain Family
PF12456 hSac2 590 698 Inositol phosphatase Domain
Tissue specificity TISSUE SPECIFICITY: Ubiquitous (PubMed:11274189). Highly expressed in brain (PubMed:26203138). {ECO:0000269|PubMed:11274189, ECO:0000269|PubMed:26203138}.
Sequence
MELFQAKDHYILQQGERALWCSRRDGGLQLRPATDLLLAWNPICLGLVEGVIGKIQLHSD
LPWWLILIRQKALVGKLPGDHEVCKVTKIAVLSLSEMEPQDLELELCKKHHFGINKPEKI
IPSPDDSKFLLKTFTHIKSNVSAPNKKKVKESKEKEKLERRLLEELLKMFMDSESFYYSL
TYDLTNSVQRQSTGERDGRPLWQKVDDRFFWNKYMIQDLTEIGTPDVDFWIIPMIQGFVQ
IEELVVNYTESSDDEKSSPETPPQESTCVDDIHPRFLVALISRRSRHRAGMRYKRRGVDK
NGNVANYVETEQLIHVHNHTLSFVQTRGSVPVFWSQVGYRYNPRPRLDRSEKETVAYFCA
HFEEQLNIYKKQVIINLVDQAGREKIIGDAYLKQVLLFNNSHLTYVSFDFHEHCR
GMKFE
NVQTLTDAIYDIILDMKWCWVDEAGVICKQEGIFRVNCMDCLDRTNVVQAAIARVVMEQQ
LKKLGVMPPEQPLPVKCNRIYQIMWANNGDSISRQYAGTAALKGDFTRTGERKLAGVMKD
GVNSANRYYLNRFKDAYRQAVIDLMQGIPVTEDLYSIFTKEKEHEALHKENQRSHQELIS
QLLQSYMKLLLPDDEKFHGGWALIDCDPSLIDATHRDVDVLLLLSNSAYYVAYYDDEVDK
VNQYQRLSLENLEKIEIGPEPTLFGKPKFSCMRLHYRY
KEASGYFHTLRAVMRNPEEDGK
DTLQCIAEMLQITKQAMGSDLPIIEKKLERKSSKPHEDIIGIRSQNQGSLAQGKNFLMSK
FSSLNQKVKQTKSNVNIGNLRKLGNFTKPEMKVNFLKPNLKVNLWKSDSSLETMENTGVM
DKVQAESDGDMSSDNDSYHSDEFLTNSKSDEDRQLANSLESVGPIDYVLPSCGIIASAPR
LGSRSQSLSSTDSSVHAPSEITVAHGSGLGKGQESPLKKSPSAGDVHILTGFAKPMDIYC
HRFVQDAQNKVTHLSETRSVSQQASQERNQMTNQVSNETQSESTEQTPSRPSQLDVSLSA
TGPQFLSVEPAHSVASQKTPTSASSMLELETGLHVTPSPSESSSSRAVSPFAKIRSSMVQ
VASITQAGLTHGINFAVSKVQKSPPEPEIINQVQQNELKKMFIQCQTRIIQI
Sequence length 1132
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 PIPs at the early endosome membrane
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Parkinson disease Parkinson Disease rs33939927, rs35801418, rs34805604, rs35870237, rs34995376, rs74315355, rs28940284, rs74315356, rs74315357, rs28940285, rs730880302, rs750664040, rs74315359, rs74315360, rs45539432
View all (84 more)
28892059, 25064009
Unknown
Disease term Disease name Evidence References Source
Parkinson Disease Parkinson Disease GWAS
Diabetes Diabetes GWAS
Associations from Text Mining
Disease Name Relationship Type References
Capillary Malformation Arteriovenous Malformation Associate 32693431
Glioblastoma Inhibit 25476455
Glioma Associate 25476455
Heart Defects Congenital Associate 32693431, 33407475
Leukemia Lymphocytic Chronic B Cell Associate 26430724, 29367434
Neoplasms Inhibit 25476455
Neuroblastoma Associate 39217334
Parkinson Disease Associate 30957308