INPPL1 Chromosome 11
Inositol polyphosphate phosphatase like 1
Upload your DNA to see your personal genotypes for variants in INPPL1.
What This Gene Does
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]
Gene Info
Gene Group
"SH2 domain containing|Sterile alpha motif domain containing|Phosphoinositide phosphatases"
Locus Type
gene with protein product
Location
11q13.4
Ensembl
ENSG00000165458
Associated Conditions (6)
INPPL1-related disorder
Inborn genetic diseases
Thyroid cancer
nonmedullary
1
Opsismodysplasia
Key Variants
RS139442327
Conflicting classifications of pathogenicity
INPPL1-related disorder, INPPL1-related disorder
Health Risk
RS141305290
Conflicting classifications of pathogenicity
INPPL1-related disorder, Inborn genetic diseases, INPPL1-related disorder
Health Risk
RS199604909
Conflicting classifications of pathogenicity
Health Risk
RS374265585
Conflicting classifications of pathogenicity
Health Risk
RS550597792
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS752131830
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS753171921
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1161850370
Likely pathogenic
Health Risk
RS1948951076
Likely pathogenic
Thyroid cancer, nonmedullary, 1
Health Risk
RS1949036008
Likely pathogenic
Opsismodysplasia, Opsismodysplasia
Health Risk
RS2135414009
Likely pathogenic
Opsismodysplasia, Opsismodysplasia
Health Risk
RS2135438529
Likely pathogenic
Opsismodysplasia, Opsismodysplasia
Health Risk
All Variants (38)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS139442327 | Health Risk | Conflicting classifications of pathogenicity | INPPL1-related disorder, INPPL1-related disorder |
| RS141305290 | Health Risk | Conflicting classifications of pathogenicity | INPPL1-related disorder, Inborn genetic diseases, INPPL1-related disorder |
| RS199604909 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS374265585 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS550597792 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS752131830 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS753171921 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS1161850370 | Health Risk | Likely pathogenic | — |
| RS1948951076 | Health Risk | Likely pathogenic | Thyroid cancer, nonmedullary, 1 |
| RS1949036008 | Health Risk | Likely pathogenic | Opsismodysplasia, Opsismodysplasia |
| RS2135414009 | Health Risk | Likely pathogenic | Opsismodysplasia, Opsismodysplasia |
| RS2135438529 | Health Risk | Likely pathogenic | Opsismodysplasia, Opsismodysplasia |
| RS2135446720 | Health Risk | Likely pathogenic | — |
| RS2539226434 | Health Risk | Likely pathogenic | — |
| RS397514508 | Health Risk | Likely pathogenic | Opsismodysplasia, Opsismodysplasia |
| RS397514509 | Health Risk | Likely pathogenic | Opsismodysplasia, Opsismodysplasia |
| RS760925109 | Health Risk | Likely pathogenic | Opsismodysplasia, Opsismodysplasia |
| RS878853119 | Health Risk | Likely pathogenic | Opsismodysplasia, Opsismodysplasia |
| RS1135401750 | Health Risk | Pathogenic | Opsismodysplasia, Opsismodysplasia |
| RS1948786646 | Health Risk | Pathogenic | Opsismodysplasia, Opsismodysplasia |
| RS2135426679 | Health Risk | Pathogenic | — |
| RS2135440992 | Health Risk | Pathogenic | — |
| RS2135449650 | Health Risk | Pathogenic | — |
| RS2539247073 | Health Risk | Pathogenic | — |
| RS2539251135 | Health Risk | Pathogenic | Opsismodysplasia, Opsismodysplasia |
| RS397514510 | Health Risk | Pathogenic | Opsismodysplasia, Opsismodysplasia |
| RS397514511 | Health Risk | Pathogenic | Opsismodysplasia, Opsismodysplasia |
| RS397514512 | Health Risk | Pathogenic | Opsismodysplasia, Opsismodysplasia |
| RS655423 | Health Risk | Pathogenic | Opsismodysplasia, Opsismodysplasia |
| RS749079348 | Health Risk | Pathogenic | — |
| RS754591389 | Health Risk | Pathogenic | — |
| RS779291537 | Health Risk | Pathogenic | Opsismodysplasia, Opsismodysplasia |
| RS797044468 | Health Risk | Pathogenic | Opsismodysplasia, Opsismodysplasia |
| RS797044469 | Health Risk | Pathogenic | Opsismodysplasia, Opsismodysplasia |
| RS797044470 | Health Risk | Pathogenic | Opsismodysplasia, Opsismodysplasia |
| RS878853123 | Health Risk | Pathogenic | Opsismodysplasia, Opsismodysplasia |
| RS1948918434 | Health Risk | Pathogenic/Likely pathogenic | Opsismodysplasia, Opsismodysplasia |
| RS746647683 | Health Risk | Pathogenic/Likely pathogenic | Opsismodysplasia, Opsismodysplasia |