Free for academic non-profit institutions. Other users need a Commercial license

Aliases for INPPL1 Gene

Aliases for INPPL1 Gene

  • Inositol Polyphosphate Phosphatase Like 1 2 3 5
  • SH2 Domain-Containing Inositol 5-Phosphatase 2 2 3 4
  • 51C Protein 2 3
  • Protein 51C 3 4
  • INPPL-1 3 4
  • SHIP-2 3 4
  • SHIP2 3 4
  • Phosphatidylinositol-3,4,5-Trisphosphate 5-Phosphatase 2 3
  • Inositol Polyphosphate Phosphatase-Like Protein 1 4
  • SH2 Domain-Containing Inositol-5-Phosphatase 2 3
  • SH2 Domain-Containing Inositol Phosphatase 2 4
  • Inositol Polyphosphate Phosphatase-Like 1 3
  • EC 3.1.3.n1 63
  • EC 3.1.3.86 4
  • EC 3.1.3 63
  • OPSMD 3

External Ids for INPPL1 Gene

Previous GeneCards Identifiers for INPPL1 Gene

  • GC11P074268
  • GC11P073475
  • GC11P072157
  • GC11P071662
  • GC11P071613
  • GC11P071580
  • GC11P071935
  • GC11P068230

Summaries for INPPL1 Gene

Entrez Gene Summary for INPPL1 Gene

  • The protein encoded by this gene is an SH2-containing 5'-inositol phosphatase that is involved in the regulation of insulin function. The encoded protein also plays a role in the regulation of epidermal growth factor receptor turnover and actin remodelling. Additionally, this gene supports metastatic growth in breast cancer and is a valuable biomarker for breast cancer. [provided by RefSeq, Jan 2009]

GeneCards Summary for INPPL1 Gene

INPPL1 (Inositol Polyphosphate Phosphatase Like 1) is a Protein Coding gene. Diseases associated with INPPL1 include opsismodysplasia and schneckenbecken dysplasia. Among its related pathways are Metabolism and Immune System. GO annotations related to this gene include actin binding and SH3 domain binding. An important paralog of this gene is INPP5J.

UniProtKB/Swiss-Prot for INPPL1 Gene

  • Phosphatidylinositol (PtdIns) phosphatase that specifically hydrolyzes the 5-phosphate of phosphatidylinositol-3,4,5-trisphosphate (PtdIns(3,4,5)P3) to produce PtdIns(3,4)P2, thereby negatively regulating the PI3K (phosphoinositide 3-kinase) pathways. Plays a central role in regulation of PI3K-dependent insulin signaling, although the precise molecular mechanisms and signaling pathways remain unclear. While overexpression reduces both insulin-stimulated MAP kinase and Akt activation, its absence does not affect insulin signaling or GLUT4 trafficking. Confers resistance to dietary obesity. May act by regulating AKT2, but not AKT1, phosphorylation at the plasma membrane. Part of a signaling pathway that regulates actin cytoskeleton remodeling. Required for the maintenance and dynamic remodeling of actin structures as well as in endocytosis, having a major impact on ligand-induced EGFR internalization and degradation. Participates in regulation of cortical and submembraneous actin by hydrolyzing PtdIns(3,4,5)P3 thereby regulating membrane ruffling (PubMed:21624956). Regulates cell adhesion and cell spreading. Required for HGF-mediated lamellipodium formation, cell scattering and spreading. Acts as a negative regulator of EPHA2 receptor endocytosis by inhibiting via PI3K-dependent Rac1 activation. Acts as a regulator of neuritogenesis by regulating PtdIns(3,4,5)P3 level and is required to form an initial protrusive pattern, and later, maintain proper neurite outgrowth. Acts as a negative regulator of the FC-gamma-RIIA receptor (FCGR2A). Mediates signaling from the FC-gamma-RIIB receptor (FCGR2B), playing a central role in terminating signal transduction from activating immune/hematopoietic cell receptor systems. Involved in EGF signaling pathway. Upon stimulation by EGF, it is recruited by EGFR and dephosphorylates PtdIns(3,4,5)P3. Plays a negative role in regulating the PI3K-PKB pathway, possibly by inhibiting PKB activity. Down-regulates Fc-gamma-R-mediated phagocytosis in macrophages independently of INPP5D/SHIP1. In macrophages, down-regulates NF-kappa-B-dependent gene transcription by regulating macrophage colony-stimulating factor (M-CSF)-induced signaling. May also hydrolyze PtdIns(1,3,4,5)P4, and could thus affect the levels of the higher inositol polyphosphates like InsP6. Involved in endochondral ossification.

Gene Wiki entry for INPPL1 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for INPPL1 Gene

Genomics for INPPL1 Gene

Regulatory Elements for INPPL1 Gene

Promoters for INPPL1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around INPPL1 on UCSC Golden Path with GeneCards custom track

Genomic Location for INPPL1 Gene

Chromosome:
11
Start:
72,223,701 bp from pter
End:
72,239,147 bp from pter
Size:
15,447 bases
Orientation:
Plus strand

Genomic View for INPPL1 Gene

Genes around INPPL1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
INPPL1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for INPPL1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for INPPL1 Gene

Proteins for INPPL1 Gene

  • Protein details for INPPL1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O15357-SHIP2_HUMAN
    Recommended name:
    Phosphatidylinositol 3,4,5-trisphosphate 5-phosphatase 2
    Protein Accession:
    O15357
    Secondary Accessions:
    • B2RTX5
    • Q13577
    • Q13578

    Protein attributes for INPPL1 Gene

    Size:
    1258 amino acids
    Molecular mass:
    138599 Da
    Quaternary structure:
    • Interacts with tyrosine phosphorylated form of SHC1, Interacts with EGFR. Upon stimulation by the EGF signaling pathway, it forms a complex with SHC1 and EGFR. Interacts with cytoskeletal protein SORBS3/vinexin, promoting its localization to the periphery of cells. Forms a complex with filamin (FLNA or FLNB), actin, GPIb (GP1BA or GP1BB) that regulates cortical and submembraneous actin. Interacts with c-Met/MET, when c-Met/MET is phosphorylated on Tyr-1356. Interacts with p130Cas/BCAR1. Interacts with CENTD3/ARAP3 via its SAM domain. Interacts with c-Cbl/CBL and CAP/SORBS1. Interacts with activated EPHA2 receptor. Interacts with receptors FCGR2A and FCGR2B. Interacts with tyrosine kinases ABL1 and TEC. Interacts with CSF1R. Interacts (via N-terminus) with SH3YL1 (via SH3 domain) (PubMed:21624956).
    Miscellaneous:
    • Its ability to confer resistance to dietary obesity suggests that it may serve as a possible therapeutic target in cases of type 2 diabetes and obesity.
    SequenceCaution:
    • Sequence=AAA50503.1; Type=Frameshift; Positions=1153; Evidence={ECO:0000305}; Sequence=AAA96658.1; Type=Frameshift; Positions=Several; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for INPPL1 Gene

    Alternative splice isoforms for INPPL1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for INPPL1 Gene

Proteomics data for INPPL1 Gene at MOPED

Post-translational modifications for INPPL1 Gene

  • Tyrosine phosphorylated by the members of the SRC family after exposure to a diverse array of extracellular stimuli such as insulin, growth factors such as EGF or PDGF, chemokines, integrin ligands and hypertonic and oxidative stress. May be phosphorylated upon IgG receptor FCGR2B-binding. Phosphorylated at Tyr-986 following cell attachment and spreading. Phosphorylated at Tyr-1162 following EGF signaling pathway stimulation. Phosphorylated at Thr-958 in response to PDGF.
  • Ubiquitination at Lys 224, Lys 234, and Lys 331
  • Modification sites at PhosphoSitePlus

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for INPPL1 (SHIP-2)

Domains & Families for INPPL1 Gene

Suggested Antigen Peptide Sequences for INPPL1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

O15357

UniProtKB/Swiss-Prot:

SHIP2_HUMAN :
  • The SH2 domain interacts with tyrosine phosphorylated forms of proteins such as SHC1 or FCGR2A. It also mediates the interaction with p130Cas/BCAR1.
  • Belongs to the inositol 1,4,5-trisphosphate 5-phosphatase family.
Domain:
  • The SH2 domain interacts with tyrosine phosphorylated forms of proteins such as SHC1 or FCGR2A. It also mediates the interaction with p130Cas/BCAR1.
  • The NPXY sequence motif found in many tyrosine-phosphorylated proteins is required for the specific binding of the PID domain.
  • Contains 1 SAM (sterile alpha motif) domain.
  • Contains 1 SH2 domain.
Family:
  • Belongs to the inositol 1,4,5-trisphosphate 5-phosphatase family.
genes like me logo Genes that share domains with INPPL1: view

Function for INPPL1 Gene

Molecular function for INPPL1 Gene

GENATLAS Biochemistry:
inositol polyphosphate phosphatase-like 1
UniProtKB/Swiss-Prot CatalyticActivity:
1-phosphatidyl-1D-myo-inositol 3,4,5-triphosphate + H(2)O = 1-phosphatidyl-1D-myo-inositol 3,4-diphosphate + phosphate.
UniProtKB/Swiss-Prot EnzymeRegulation:
Activated upon translocation to the sites of synthesis of PtdIns(3,4,5)P3 in the membrane. Enzymatic activity is enhanced in the presence of phosphatidylserine.
UniProtKB/Swiss-Prot Function:
Phosphatidylinositol (PtdIns) phosphatase that specifically hydrolyzes the 5-phosphate of phosphatidylinositol-3,4,5-trisphosphate (PtdIns(3,4,5)P3) to produce PtdIns(3,4)P2, thereby negatively regulating the PI3K (phosphoinositide 3-kinase) pathways. Plays a central role in regulation of PI3K-dependent insulin signaling, although the precise molecular mechanisms and signaling pathways remain unclear. While overexpression reduces both insulin-stimulated MAP kinase and Akt activation, its absence does not affect insulin signaling or GLUT4 trafficking. Confers resistance to dietary obesity. May act by regulating AKT2, but not AKT1, phosphorylation at the plasma membrane. Part of a signaling pathway that regulates actin cytoskeleton remodeling. Required for the maintenance and dynamic remodeling of actin structures as well as in endocytosis, having a major impact on ligand-induced EGFR internalization and degradation. Participates in regulation of cortical and submembraneous actin by hydrolyzing PtdIns(3,4,5)P3 thereby regulating membrane ruffling (PubMed:21624956). Regulates cell adhesion and cell spreading. Required for HGF-mediated lamellipodium formation, cell scattering and spreading. Acts as a negative regulator of EPHA2 receptor endocytosis by inhibiting via PI3K-dependent Rac1 activation. Acts as a regulator of neuritogenesis by regulating PtdIns(3,4,5)P3 level and is required to form an initial protrusive pattern, and later, maintain proper neurite outgrowth. Acts as a negative regulator of the FC-gamma-RIIA receptor (FCGR2A). Mediates signaling from the FC-gamma-RIIB receptor (FCGR2B), playing a central role in terminating signal transduction from activating immune/hematopoietic cell receptor systems. Involved in EGF signaling pathway. Upon stimulation by EGF, it is recruited by EGFR and dephosphorylates PtdIns(3,4,5)P3. Plays a negative role in regulating the PI3K-PKB pathway, possibly by inhibiting PKB activity. Down-regulates Fc-gamma-R-mediated phagocytosis in macrophages independently of INPP5D/SHIP1. In macrophages, down-regulates NF-kappa-B-dependent gene transcription by regulating macrophage colony-stimulating factor (M-CSF)-induced signaling. May also hydrolyze PtdIns(1,3,4,5)P4, and could thus affect the levels of the higher inositol polyphosphates like InsP6. Involved in endochondral ossification.
UniProtKB/Swiss-Prot Induction:
By bacterial lipopolysaccharides (LPS).

Enzyme Numbers (IUBMB) for INPPL1 Gene

Gene Ontology (GO) - Molecular Function for INPPL1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003779 actin binding IEA --
GO:0005515 protein binding IEA,IPI 11158326
GO:0016787 hydrolase activity IEA --
genes like me logo Genes that share ontologies with INPPL1: view
genes like me logo Genes that share phenotypes with INPPL1: view

Human Phenotype Ontology for INPPL1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for INPPL1 Gene

MGI Knock Outs for INPPL1:

Animal Model Products

No data available for Transcription Factor Targets and HOMER Transcription for INPPL1 Gene

Localization for INPPL1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for INPPL1 Gene

Cytoplasm, cytosol. Cytoplasm, cytoskeleton. Membrane; Peripheral membrane protein. Cell projection, filopodium. Cell projection, lamellipodium. Note=Translocates to membrane ruffles when activated, translocation is probably due to different mechanisms depending on the stimulus and cell type. Partly translocated via its SH2 domain which mediates interaction with tyrosine phosphorylated receptors such as the FC-gamma-RIIB receptor (FCGR2B). Tyrosine phosphorylation may also participate in membrane localization. Insulin specifically stimulates its redistribution from the cytosol to the plasma membrane. Recruited to the membrane following M-CSF stimulation. In activated spreading platelets, localizes with actin at filopodia, lamellipodia and the central actin ring.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for INPPL1 Gene COMPARTMENTS Subcellular localization image for INPPL1 gene
Compartment Confidence
cytoskeleton 5
cytosol 5
golgi apparatus 5
plasma membrane 3
nucleus 2

Gene Ontology (GO) - Cellular Components for INPPL1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0030027 lamellipodium IEA --
genes like me logo Genes that share ontologies with INPPL1: view

Pathways & Interactions for INPPL1 Gene

genes like me logo Genes that share pathways with INPPL1: view

SIGNOR curated interactions for INPPL1 Gene

Activates:
Inactivates:
Is activated by:

Gene Ontology (GO) - Biological Process for INPPL1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001958 endochondral ossification IMP 23273569
GO:0006644 phospholipid metabolic process TAS --
GO:0006661 phosphatidylinositol biosynthetic process TAS --
GO:0007155 cell adhesion TAS 15668240
GO:0008285 negative regulation of cell proliferation IEA --
genes like me logo Genes that share ontologies with INPPL1: view

Drugs & Compounds for INPPL1 Gene

(5) Drugs for INPPL1 Gene - From: Novoseek and HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
D-Myo-Inositol-1,4-Bisphosphate Experimental Pharma 0

(514) Additional Compounds for INPPL1 Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Phosphatidylinositol-3,4,5-trisphosphate
  • 1,2-Diacyl-sn-glycero-3-phospho-(1'-myo-inositol-3',4',5'-bisphosphate)
  • 1-Phosphatidyl-1D-myo-inositol 3,4,5-trisphosphate
  • Phosphatidylinositol-3,4,5-trisphosphate
Inositol 1,3,4,5-tetraphosphate
  • 1,3,4,5-Tetrakis(dihydrogen phosphate) myo-Inositol
  • 1D-Myo-inositol 1,3,4,5-tetrakis(dihydrogen phosphate)
  • 1D-Myo-inositol 1,3,4,5-tetrakisphosphate
  • D-Myo-inositol 1,3,4,5-tetrakisphosphate
  • Inositol 1,3,4,5-tetrakis(phosphate)
102850-29-3
Inositol 1,3,4-trisphosphate
  • 1,3,4-Itp
  • 1D-Myo-Inositol 1,3,4-trisphosphate
  • D-Myo-Inositol 1,3,4-trisphosphate
  • I3S
  • Inositol 1,3,4-triphosphate
98102-63-7
Inositol 1,4,5-trisphosphate
  • 1D-Myo-Inositol 1,4,5-trisphosphate
  • D-Myo-Inositol 1,4,5-trisphosphate
  • Inositol 1,4,5-trisphosphate
88269-39-0
Phosphate
  • NFB Orthophosphate
  • O-Phosphoric acid
  • Ortho-phosphate
  • Orthophosphate (PO43-)
  • Orthophosphate(3-)
14265-44-2
genes like me logo Genes that share compounds with INPPL1: view

Transcripts for INPPL1 Gene

Unigene Clusters for INPPL1 Gene

Inositol polyphosphate phosphatase-like 1:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for INPPL1 Gene

ExUns: 1 ^ 2 ^ 3a · 3b · 3c ^ 4 ^ 5a · 5b ^ 6a · 6b ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12a · 12b ^ 13a · 13b ^ 14a · 14b · 14c ^ 15a · 15b ^ 16a · 16b ·
SP1: - -
SP2:
SP3:
SP4: - - -
SP5: - -
SP6:
SP7:
SP8:
SP9:
SP10: -
SP11:
SP12: -
SP13:
SP14:
SP15: -
SP16: -
SP17: - - -
SP18:
SP19:
SP20:
SP21:

ExUns: 16c ^ 17a · 17b ^ 18 ^ 19a · 19b ^ 20a · 20b ^ 21a · 21b ^ 22 ^ 23a · 23b ^ 24a · 24b · 24c ^ 25 ^ 26a · 26b ^ 27a · 27b · 27c · 27d · 27e ^ 28a · 28b ^
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:
SP12:
SP13: - -
SP14:
SP15:
SP16:
SP17:
SP18:
SP19:
SP20: - -
SP21:

ExUns: 29a · 29b · 29c
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:
SP12:
SP13:
SP14:
SP15:
SP16:
SP17:
SP18:
SP19:
SP20:
SP21:

Relevant External Links for INPPL1 Gene

GeneLoc Exon Structure for
INPPL1
ECgene alternative splicing isoforms for
INPPL1

Expression for INPPL1 Gene

mRNA expression in normal human tissues for INPPL1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for INPPL1 Gene

This gene is overexpressed in Peripheral blood mononuclear cells (14.4), Bone marrow mesenchymal stem cell (9.1), and Bone (6.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for INPPL1 Gene



SOURCE GeneReport for Unigene cluster for INPPL1 Gene Hs.523875

mRNA Expression by UniProt/SwissProt for INPPL1 Gene

O15357-SHIP2_HUMAN
Tissue specificity: Widely expressed, most prominently in skeletal muscle, heart and brain. Present in platelets. Expressed in transformed myeloid cells and in primary macrophages, but not in peripheral blood monocytes.
genes like me logo Genes that share expression patterns with INPPL1: view

Protein tissue co-expression partners for INPPL1 Gene

- Elite partner

Primer Products

In Situ Assay Products

No data available for mRNA differential expression in normal tissues for INPPL1 Gene

Orthologs for INPPL1 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for INPPL1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia INPPL1 36
  • 100 (a)
OneToOne
INPPL1 35
  • 99.55 (n)
  • 99.6 (a)
cow
(Bos Taurus)
Mammalia INPPL1 35
  • 92.32 (n)
  • 97.06 (a)
INPPL1 36
  • 97 (a)
OneToOne
dog
(Canis familiaris)
Mammalia INPPL1 36
  • 96 (a)
OneToOne
INPPL1 35
  • 92.02 (n)
  • 96.66 (a)
mouse
(Mus musculus)
Mammalia Inppl1 16
Inppl1 35
  • 88.99 (n)
  • 96.02 (a)
Inppl1 36
  • 96 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia INPPL1 36
  • 88 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia INPPL1 36
  • 91 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Inppl1 35
  • 89.25 (n)
  • 95.7 (a)
chicken
(Gallus gallus)
Aves INPPL1 36
  • 58 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia INPPL1 36
  • 76 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia Str.17726 35
zebrafish
(Danio rerio)
Actinopterygii inppl1a 36
  • 57 (a)
OneToOne
inppl1a 35
  • 71.51 (n)
  • 76.74 (a)
fruit fly
(Drosophila melanogaster)
Insecta Ocrl 36
  • 16 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea ocrl-1 36
  • 19 (a)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes INP54 38
Species with no ortholog for INPPL1:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for INPPL1 Gene

ENSEMBL:
Gene Tree for INPPL1 (if available)
TreeFam:
Gene Tree for INPPL1 (if available)

Paralogs for INPPL1 Gene

Paralogs for INPPL1 Gene

(3) SIMAP similar genes for INPPL1 Gene using alignment to 8 proteins:

genes like me logo Genes that share paralogs with INPPL1: view

Variants for INPPL1 Gene

Sequence variations from dbSNP and Humsavar for INPPL1 Gene

SNP ID Clin Chr 11 pos Sequence Context AA Info Type
rs61749195 - 72,232,917(+) CCCTC(A/C)TCAGG reference, missense
rs116848359 - 72,233,693(+) CCCCC(A/G)TGTTT reference, missense
rs70940821 - 72,237,189(+) CTTCA(A/G)TAACC reference, missense
rs11548491 - 72,237,492(+) TGGGG(C/G)TGAGG reference, missense
rs1049472 - 72,237,585(+) AGTGG(C/G)CAGTG reference, missense

Structural Variations from Database of Genomic Variants (DGV) for INPPL1 Gene

Variant ID Type Subtype PubMed ID
dgv1221n71 CNV Loss 21882294

Variation tolerance for INPPL1 Gene

Residual Variation Intolerance Score: 1.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 6.90; 79.57% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for INPPL1 Gene

HapMap Linkage Disequilibrium report
INPPL1
Human Gene Mutation Database (HGMD)
INPPL1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for INPPL1 Gene

Disorders for INPPL1 Gene

MalaCards: The human disease database

(5) MalaCards diseases for INPPL1 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
opsismodysplasia
  • opsmd
schneckenbecken dysplasia
  • chondrodysplasia lethal neonatal with snail like pelvis
oculocerebrorenal syndrome
  • lowe syndrome
obesity
  • obesity, association with
diabetes mellitus, noninsulin-dependent
  • diabetes mellitus, noninsulin-dependent, 2
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

SHIP2_HUMAN
  • Diabetes mellitus, non-insulin-dependent (NIDDM) [MIM:125853]: A multifactorial disorder of glucose homeostasis caused by a lack of sensitivity to the bodys own insulin. Affected individuals usually have an obese body habitus and manifestations of a metabolic syndrome characterized by diabetes, insulin resistance, hypertension and hypertriglyceridemia. The disease results in long-term complications that affect the eyes, kidneys, nerves, and blood vessels. {ECO:0000269 PubMed:12086927, ECO:0000269 PubMed:15687335}. Note=Disease susceptibility may be associated with variations affecting the gene represented in this entry.
  • Note=Genetic variations in INPPL1 may be a cause of susceptibility to metabolic syndrome. Metabolic syndrome is characterized by diabetes, insulin resistance, hypertension, and hypertriglyceridemia is absent. {ECO:0000269 PubMed:15220217, ECO:0000269 PubMed:17557929}.
  • Opsismodysplasia (OPSMD) [MIM:258480]: A rare skeletal dysplasia involving delayed bone maturation. Clinical signs observed at birth include short limbs, small hands and feet, relative macrocephaly with a large anterior fontanel, and characteristic craniofacial abnormalities including a prominent brow, depressed nasal bridge, a small anteverted nose, and a relatively long philtrum. Death secondary to respiratory failure during the first few years of life has been reported, but there can be long-term survival. Typical radiographic findings include shortened long bones with very delayed epiphyseal ossification, severe platyspondyly, metaphyseal cupping, and characteristic abnormalities of the metacarpals and phalanges. {ECO:0000269 PubMed:23273569}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for INPPL1

Genetic Association Database (GAD)
INPPL1
Human Genome Epidemiology (HuGE) Navigator
INPPL1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
INPPL1
genes like me logo Genes that share disorders with INPPL1: view

No data available for Genatlas for INPPL1 Gene

Publications for INPPL1 Gene

  1. Genetic association analysis of inositol polyphosphate phosphatase- like 1 (INPPL1, SHIP2) variants with essential hypertension. (PMID: 17557929) Braga Marcano A.C. … Munroe P.B. (J. Med. Genet. 2007) 3 4 23 48 67
  2. Cloning and characterization of a human cDNA (INPPL1) sharing homology with inositol polyphosphate phosphatases. (PMID: 8530088) Hejna J.A. … Moses R.E. (Genomics 1995) 2 3 23
  3. Protein phosphatase 2A PR130/B''alpha1 subunit binds to the SH2 domain-containing inositol polyphosphate 5-phosphatase 2 and prevents epidermal growth factor (EGF)-induced EGF receptor degradation sustaining EGF-mediated signaling. (PMID: 19825976) Zwaenepoel K. … Janssens V. (FASEB J. 2010) 3 23
  4. Regulation of SHIP2 function through plasma membrane interaction. (PMID: 19895833) Deneubourg L. … Erneux C. (Adv. Enzyme Regul. 2010) 3 23
  5. LL5beta directs the translocation of filamin A and SHIP2 to sites of phosphatidylinositol 3,4,5-triphosphate (PtdIns(3,4,5)P3) accumulation, and PtdIns(3,4,5)P3 localization is mutually modified by co-recruited SHIP2. (PMID: 20236936) Takabayashi T. … Sato M. (J. Biol. Chem. 2010) 3 23

Products for INPPL1 Gene

Sources for INPPL1 Gene

Back to Top

Content