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GeneE
25 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
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INPPL1
inositol polyphosphate phosphatase like 1
Chromosome 11 Β· 11q13.4
NCBI Gene: 3636Ensembl: ENSG00000165458.16HGNC: HGNC:6080UniProt: O15357
176PubMed Papers
21Diseases
0Drugs
41Pathogenic Variants
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
endochondral ossificationendocytosiscytosolactin filament organizationopsismodysplasiaschneckenbecken dysplasiaendometrial cancergenetic disorder
✦AI Summary

INPPL1 encodes SHIP2, a phosphatidylinositol (PtdIns) phosphatase that negatively regulates PI3K signaling by hydrolyzing the 5-phosphate of PtdIns(3,4,5)P3 to generate PtdIns(3,4)P2 1. Beyond insulin signaling regulation, SHIP2 governs multiple cellular processes including actin cytoskeleton remodeling, cell adhesion, endocytosis, and immune receptor signaling 1. The enzyme is widely expressed across tissues including brain, thymus, heart, and skeletal muscle 2. Clinically, INPPL1 mutations cause opsismodysplasia, a rare autosomal recessive skeletal dysplasia 3. INPPL1 variants are associated with type 2 diabetes susceptibility in both rat and human populations; a 3' UTR deletion in humans results in SHIP2 overexpression and impaired insulin sensitivity 4. The gene has been identified in genome-wide association studies as a diabetic nephropathy locus 5. In cancer, INPPL1 amplification occurs in esophageal squamous cell carcinoma, where SHIP2 modulates AKT phosphorylation and cell proliferation, suggesting potential as a therapeutic target in combination with PLK1 inhibitors 6. Additionally, INPPL1 mutations are comutated with GNAS variants in mucinous gastrointestinal cancers 7.

Sources cited
1
SHIP2 hydrolyzes phosphatidylinositol-3,4,5-trisphosphate to phosphatidylinositol-3,4-bisphosphate and regulates PI3K-induced cell events including proliferation, differentiation, apoptosis, and cell movement
PMID: 10582334
2
SHIP2/INPPL1 is widely expressed in adult tissues including brain, thymus, heart, and skeletal muscle; expressed in embryonic liver, CNS, thymus, lung, and cartilage perichondrium
PMID: 10610720
3
Mutations in INPPL1 cause opsismodysplasia, a rare autosomal recessive severe skeletal dysplasia
PMID: 27708270
4
SHIP2 gene mutations associated with type 2 diabetes in rats and humans; a 3' UTR deletion in type 2 diabetic subjects increases SHIP2 protein expression and impairs insulin signaling
PMID: 12086927
5
INPPL1 identified as a diabetic nephropathy gene using GWAS meta-analysis and gene-based approaches
PMID: 29147756
6
INPPL1 amplification in esophageal squamous cell carcinoma; SHIP2 modulates AKT phosphorylation and cell proliferation, with synergistic potential when combined with PLK1 inhibitors
PMID: 41188852
7
INPPL1 is a comutated alternative tumor suppressor in GNAS-mutant mucinous gastrointestinal cancers
PMID: 39121438
Disease Associationsβ“˜21
opsismodysplasiaOpen Targets
0.79Strong
endometrial cancerOpen Targets
0.37Weak
schneckenbecken dysplasiaOpen Targets
0.37Weak
genetic disorderOpen Targets
0.19Weak
hepatocellular carcinomaOpen Targets
0.10Suggestive
colorectal carcinomaOpen Targets
0.09Suggestive
Alzheimer diseaseOpen Targets
0.09Suggestive
breast cancerOpen Targets
0.08Suggestive
MODYOpen Targets
0.08Suggestive
papillary thyroid carcinomaOpen Targets
0.07Suggestive
type 1 diabetes mellitusOpen Targets
0.07Suggestive
type 2 diabetes mellitusOpen Targets
0.07Suggestive
cystOpen Targets
0.07Suggestive
melanomaOpen Targets
0.06Suggestive
diabetes mellitusOpen Targets
0.06Suggestive
gastric cancerOpen Targets
0.06Suggestive
colorectal cancerOpen Targets
0.06Suggestive
maturity-onset diabetes of the young type 3Open Targets
0.06Suggestive
maturity-onset diabetes of the young type 10Open Targets
0.05Suggestive
maturity-onset diabetes of the young type 4Open Targets
0.05Suggestive
OpsismodysplasiaUniProt
Pathogenic Variants41
NM_001567.4(INPPL1):c.1945C>T (p.Arg649Ter)Pathogenic
Opsismodysplasia|not provided
β˜…β˜…β˜†β˜†2025β†’ Residue 649
NM_001567.4(INPPL1):c.768_769del (p.Glu258fs)Pathogenic
Opsismodysplasia|not provided
β˜…β˜…β˜†β˜†2025β†’ Residue 258
NM_001567.4(INPPL1):c.94_121del (p.Glu32fs)Pathogenic
Opsismodysplasia|not provided
β˜…β˜…β˜†β˜†2024β†’ Residue 32
NM_001567.4(INPPL1):c.2213-2A>CPathogenic
Opsismodysplasia
β˜…β˜…β˜†β˜†2020
NM_001567.4(INPPL1):c.519-1_519invLikely pathogenic
not provided
β˜…β˜†β˜†β˜†2025
NM_001567.4(INPPL1):c.803del (p.Leu268fs)Pathogenic
not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 268
NM_001567.4(INPPL1):c.776del (p.Gln259fs)Pathogenic
not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 259
NM_001567.4(INPPL1):c.3403_3404insG (p.Tyr1135Ter)Pathogenic
not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 1135
NM_001567.4(INPPL1):c.1976C>T (p.Pro659Leu)Likely pathogenic
Opsismodysplasia|not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 659
NM_001567.4(INPPL1):c.3638_3639del (p.Arg1212_Tyr1213insTer)Pathogenic
not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 1212
NM_001567.4(INPPL1):c.3222del (p.Pro1075fs)Pathogenic
not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 1075
NM_001567.4(INPPL1):c.545C>A (p.Ser182Ter)Likely pathogenic
Opsismodysplasia
β˜…β˜†β˜†β˜†2024β†’ Residue 182
NM_001567.4(INPPL1):c.3095del (p.Pro1032fs)Likely pathogenic
not provided
β˜…β˜†β˜†β˜†2024β†’ Residue 1032
NM_001567.4(INPPL1):c.2845C>T (p.Arg949Ter)Pathogenic
not provided
β˜…β˜†β˜†β˜†2024β†’ Residue 949
NM_001567.4(INPPL1):c.1184_1185dup (p.Val396fs)Likely pathogenic
Opsismodysplasia
β˜…β˜†β˜†β˜†2023β†’ Residue 396
NM_001567.4(INPPL1):c.3385_3386insGCTGCTGCAGATGGCCAAGA (p.Thr1129fs)Pathogenic
not provided
β˜…β˜†β˜†β˜†2023β†’ Residue 1129
NM_001567.4(INPPL1):c.2213-189_2270delLikely pathogenic
not provided
β˜…β˜†β˜†β˜†2023
NM_001567.4(INPPL1):c.970_979dup (p.Gly327fs)Pathogenic
not provided
β˜…β˜†β˜†β˜†2022β†’ Residue 327
NM_001567.4(INPPL1):c.2503+2T>CLikely pathogenic
not provided|Thyroid cancer, nonmedullary, 1
β˜…β˜†β˜†β˜†2022
NM_001567.4(INPPL1):c.115_128del (p.Gly39fs)Likely pathogenic
Opsismodysplasia
β˜…β˜†β˜†β˜†2022β†’ Residue 39
View on ClinVar β†—
Related Genes
PIK3CBProtein interaction100%PIK3CDProtein interaction100%PIK3CAProtein interaction100%PIK3CGProtein interaction100%EGFRProtein interaction99%CD2APProtein interaction99%
Tissue Expression6 tissues
Lung
100%
Brain
89%
Ovary
89%
Heart
71%
Liver
45%
Bone Marrow
41%
Gene Interaction Network
Click a node to explore
INPPL1PIK3CBPIK3CDPIK3CAPIK3CGEGFRCD2AP
PROTEIN STRUCTURE
Preparing viewer…
PDB5OKP Β· 1.85 Γ… Β· X-ray
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
0.78LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.65 [0.55–0.78]
RankingsWhere INPPL1 stands among ~20K protein-coding genes
  • #2,481of 20,598
    Most Researched176 Β· top quartile
  • #1,509of 5,498
    Most Pathogenic Variants41
  • #6,316of 17,882
    Most Constrained (LOEUF)0.78
Genes detectedINPPL1
Sources retrieved25 papers
Response timeβ€”
πŸ“„ Sources
25β–Ό
1
INPPL1 gene mutations in opsismodysplasia.
PMID: 27708270
J Hum Genet Β· 2017
1.00
2
SHIPs ahoy.
PMID: 10582334
Int J Biochem Cell Biol Β· 1999
0.90
3
Molecular and Clinicopathologic Impact of GNAS Variants Across Solid Tumors.
PMID: 39121438
J Clin Oncol Β· 2024
0.80
4
SHIP2: Structure, Function and Inhibition.
PMID: 27907247
Chembiochem Β· 2017
0.72
5
The gene INPPL1, encoding the lipid phosphatase SHIP2, is a candidate for type 2 diabetes in rat and man.
PMID: 12086927
Diabetes Β· 2002
0.70