PTPN11 Chromosome 12
Protein tyrosine phosphatase non-receptor type 11
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What This Gene Does
The protein encoded by this gene is a member of the protein tyrosine phosphatase (PTP) family. PTPs are known to be signaling molecules that regulate a variety of cellular processes including cell growth, differentiation, mitotic cycle, and oncogenic transformation. This PTP contains two tandem Src homology-2 domains, which function as phospho-tyrosine binding domains and mediate the interaction of this PTP with its substrates. This PTP is widely expressed in most tissues and plays a regulatory role in various cell signaling events that are important for a diversity of cell functions, such as mitogenic activation, metabolic control, transcription regulation, and cell migration. Mutations in this gene are a cause of Noonan syndrome as well as acute myeloid leukemia. [provided by RefSeq, Aug 2016]
Gene Info
Gene Group
"SH2 domain containing|Protein tyrosine phosphatases non-receptor type"
Locus Type
gene with protein product
Location
12q24.13
Ensembl
ENSG00000179295
Associated Conditions (69)
RASopathy
Juvenile myelomonocytic leukemia
Noonan syndrome 1
Metachondromatosis
LEOPARD syndrome 1
Noonan syndrome and Noonan-related syndrome
Intellectual disability
Noonan syndrome
Cardiovascular phenotype
Pilocytic astrocytoma
Diffuse pediatric-type high-grade glioma
H3-wildtype and IDH-wildtype
Diffuse midline glioma
H3 K27M-mutant
Embryonal rhabdomyosarcoma
Early T cell progenitor acute lymphoblastic leukemia
Non-immune hydrops fetalis
PTPN11-related disorder
Noonan syndrome 3
Noonan syndrome with multiple lentigines
+49 more conditions
Key Variants
RS1032100840
Conflicting classifications of pathogenicity
RASopathy, Juvenile myelomonocytic leukemia, Noonan syndrome 1
Health Risk
RS117730996
Conflicting classifications of pathogenicity
RASopathy, Noonan syndrome and Noonan-related syndrome, Intellectual disability
Health Risk
RS121918454
Conflicting classifications of pathogenicity
Noonan syndrome 1, Noonan syndrome, Juvenile myelomonocytic leukemia
Health Risk
RS121918463
Conflicting classifications of pathogenicity
Noonan syndrome 1, Noonan syndrome, Early T cell progenitor acute lymphoblastic leukemia
Health Risk
RS121918470
Conflicting classifications of pathogenicity
LEOPARD syndrome 1, RASopathy, Noonan syndrome 3
Health Risk
RS1223869705
Conflicting classifications of pathogenicity
Noonan syndrome, RASopathy, Noonan syndrome
Health Risk
RS1279770165
Conflicting classifications of pathogenicity
Noonan syndrome 1, Cardiovascular phenotype, RASopathy
Health Risk
RS1380555031
Conflicting classifications of pathogenicity
Cardiovascular phenotype, Cardiovascular phenotype
Health Risk
RS139188627
Conflicting classifications of pathogenicity
RASopathy, Cardiovascular phenotype, PTPN11-related disorder
Health Risk
RS141140214
Conflicting classifications of pathogenicity
Juvenile myelomonocytic leukemia, Metachondromatosis, LEOPARD syndrome 1
Health Risk
RS1420924484
Conflicting classifications of pathogenicity
Arrhythmogenic right ventricular cardiomyopathy, Cardiovascular phenotype, RASopathy
Health Risk
RS142606486
Conflicting classifications of pathogenicity
LEOPARD syndrome 1, Metachondromatosis, Noonan syndrome 1
Health Risk
All Variants (189)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS753173299 | Health Risk | Conflicting classifications of pathogenicity | RASopathy, Noonan syndrome and Noonan-related syndrome, Cardiovascular phenotype |
| RS760374212 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS765455455 | Health Risk | Conflicting classifications of pathogenicity | Noonan syndrome and Noonan-related syndrome, RASopathy, Cardiovascular phenotype |
| RS766297596 | Health Risk | Conflicting classifications of pathogenicity | RASopathy, Noonan syndrome 1, Juvenile myelomonocytic leukemia |
| RS767712281 | Health Risk | Conflicting classifications of pathogenicity | RASopathy, Cardiovascular phenotype, RASopathy |
| RS771407775 | Health Risk | Conflicting classifications of pathogenicity | Noonan syndrome 1, Juvenile myelomonocytic leukemia, Metachondromatosis |
| RS774356443 | Health Risk | Conflicting classifications of pathogenicity | Noonan syndrome 1, RASopathy, Cardiovascular phenotype |
| RS780387568 | Health Risk | Conflicting classifications of pathogenicity | LEOPARD syndrome 1, RASopathy, LEOPARD syndrome 1 |
| RS781677115 | Health Risk | Conflicting classifications of pathogenicity | RASopathy, Noonan syndrome and Noonan-related syndrome, Cardiovascular phenotype |
| RS876657964 | Health Risk | Conflicting classifications of pathogenicity | RASopathy, RASopathy |
| RS886039711 | Health Risk | Conflicting classifications of pathogenicity | RASopathy, RASopathy |
| RS886041517 | Health Risk | Conflicting classifications of pathogenicity | RASopathy, RASopathy |
| RS886043790 | Health Risk | Conflicting classifications of pathogenicity | RASopathy, Cardiovascular phenotype, PTPN11-related disorder |
| RS886048966 | Health Risk | Conflicting classifications of pathogenicity | LEOPARD syndrome 1, Noonan syndrome 1, Metachondromatosis |
| RS1013419211 | Health Risk | Likely pathogenic | RASopathy, RASopathy |
| RS1052382672 | Health Risk | Likely pathogenic | RASopathy, Noonan syndrome and Noonan-related syndrome, Juvenile myelomonocytic leukemia |
| RS121918460 | Health Risk | Likely pathogenic | Noonan syndrome 1, RASopathy, Noonan syndrome |
| RS1398859175 | Health Risk | Likely pathogenic | Noonan syndrome, Noonan syndrome |
| RS1555267558 | Health Risk | Likely pathogenic | RASopathy, Noonan syndrome 1, Metachondromatosis |
| RS1566186813 | Health Risk | Likely pathogenic | Noonan syndrome 1, Noonan syndrome 1 |
| RS1592847299 | Health Risk | Likely pathogenic | Ventricular tachycardia, Ventricular tachycardia |
| RS1592852902 | Health Risk | Likely pathogenic | Noonan syndrome 1, Noonan syndrome 1 |
| RS2037994433 | Health Risk | Likely pathogenic | LEOPARD syndrome 1, LEOPARD syndrome 1 |
| RS2038105603 | Health Risk | Likely pathogenic | RASopathy, RASopathy |
| RS2038706856 | Health Risk | Likely pathogenic | Noonan syndrome 1, Noonan syndrome 1 |
| RS2038713813 | Health Risk | Likely pathogenic | RASopathy, RASopathy |
| RS2135861836 | Health Risk | Likely pathogenic | — |
| RS2135862010 | Health Risk | Likely pathogenic | Noonan syndrome, Noonan syndrome |
| RS2135866938 | Health Risk | Likely pathogenic | RASopathy, RASopathy |
| RS2135867567 | Health Risk | Likely pathogenic | RASopathy, RASopathy |
| RS2135901920 | Health Risk | Likely pathogenic | Metachondromatosis, Metachondromatosis |
| RS2135902166 | Health Risk | Likely pathogenic | Metachondromatosis, Metachondromatosis |
| RS2135915222 | Health Risk | Likely pathogenic | RASopathy, RASopathy |
| RS2135916018 | Health Risk | Likely pathogenic | RASopathy, RASopathy |
| RS2499756229 | Health Risk | Likely pathogenic | RASopathy, RASopathy |
| RS2540415610 | Health Risk | Likely pathogenic | RASopathy, RASopathy |
| RS2540415621 | Health Risk | Likely pathogenic | — |
| RS2540415624 | Health Risk | Likely pathogenic | Noonan syndrome, Noonan syndrome |
| RS2540415689 | Health Risk | Likely pathogenic | Noonan syndrome, Noonan syndrome |
| RS2540419851 | Health Risk | Likely pathogenic | Male infertility with azoospermia or oligozoospermia due to single gene mutation, Male infertility with azoospermia or oligozoospermia due to single gene mutation |
| RS2540425549 | Health Risk | Likely pathogenic | PTPN11-related disorder, PTPN11-related disorder |
| RS2540457138 | Health Risk | Likely pathogenic | Noonan syndrome 1, Noonan syndrome 1 |
| RS2540465831 | Health Risk | Likely pathogenic | Metachondromatosis, Metachondromatosis |
| RS369155025 | Health Risk | Likely pathogenic | Male infertility with azoospermia or oligozoospermia due to single gene mutation, Male infertility with azoospermia or oligozoospermia due to single gene mutation |
| RS376607329 | Health Risk | Likely pathogenic | Noonan syndrome, Noonan syndrome 1, RASopathy |
| RS397507509 | Health Risk | Likely pathogenic | Noonan syndrome, Noonan syndrome 1, RASopathy |
| RS397507513 | Health Risk | Likely pathogenic | Noonan syndrome 1, RASopathy, RASopathy |
| RS397507517 | Health Risk | Likely pathogenic | RASopathy, Noonan syndrome, Noonan syndrome 1 |
| RS397507542 | Health Risk | Likely pathogenic | RASopathy, LEOPARD syndrome 1, Noonan syndrome 1 |
| RS397516803 | Health Risk | Likely pathogenic | Noonan syndrome, RASopathy, Noonan syndrome |