PTPN11

Universal Cellular Machinery · Dephosphorylation & Phosphatase Regulation

How can PTPN11 affect development through cell signaling?

PTPN11 encodes SHP-2, a regulator of the RAS/MAPK pathway. This pathway influences growth, specialization, and movement of cells as tissues form and function.

Common Gene Name
protein tyrosine phosphatase non-receptor type 11
NCBI Gene ID
5781
Chromosome
12

Clinical Evidence Status

Actionability report availableEstablished disease relationshipTumor or drug-label biomarker context

These labels describe available evidence about a gene. They do not classify your variant or recommend a treatment.

Answer Sources

Explore supporting evidence (9 records)
Condition or drugEvidenceGrade / statusContextSource
Noonan syndromeClinGen gene-disease validityDefinitiveAutosomal dominantView source
2018-07-24
Costello syndromeClinGen gene-disease validityDisputedAutosomal dominantView source
2018-05-31
cardiofaciocutaneous syndromeClinGen gene-disease validityDisputedAutosomal dominantView source
2018-05-30
Noonan syndrome with multiple lentiginesClinGen gene-disease validityDefinitiveAutosomal dominantView source
2018-07-25
Noonan syndromeClinGen clinical actionabilityScored report; not a validity gradeAdultView source
2020-04-22
Noonan Syndrome with Multiple LentiginesClinGen clinical actionabilityScored report; not a validity gradeAdultView source
2021-06-07
Noonan syndromeClinGen clinical actionabilityScored report; not a validity gradePediatricView source
2022-02-09
Noonan Syndrome with Multiple LentiginesClinGen clinical actionabilityScored report; not a validity gradePediatricView source
2022-02-09
Azacitidine (2)FDA labeling biomarkerLabel mentions biomarker; actionability not inferredOncologyView source

Source snapshot: 2026-09-09. Consumer text updated: 2026-09-10. Source dates describe the cited records, not a new clinical review.

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