Protein-Tyrosine Phosphatase, Nonreceptor-Type, 11

Alternative Names

  • PTPN11
  • Protein-Tyrosine Phosphatase 2C
  • PTP2C
  • Tyrosine Phosphatase SHP2
  • SHP2
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OMIM Number

176876

NCBI Gene ID

5781

Uniprot ID

Q06124

Length

91,568 bases

No. of Exons

16

No. of isoforms

3

Protein Name

Tyrosine-protein phosphatase non-receptor type 11

Molecular Mass

68011 Da

Amino Acid Count

593

Genomic Location

chr12:112,418,351-112,509,918

Gene Map Locus
12q24.13

Description

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. [From RefSeq]

Epidemiology in the Arab World

View Map
Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_001330437.1:c.836A>GLebanonNC_000012.12:g.112473023A>GLikely Pathogenic, PathogenicLikely PathogenicNoonan Syndrome 1NG_007459.1:g.59292A>G; NM_001330437.1:c.836A>G; NP_001317366.1:p.Tyr279Cys12191845613328
NM_001330437.1:c.922A>GMorocco; United Arab E...NC_000012.12:g.112477719A>GPathogenicLikely Pathogenic, PathogenicNoonan Syndrome 1NG_007459.1:g.63988A>G; NM_001330437.1:c.922A>G; NP_001317366.1:p.Asn308Asp2893338613326
NM_002834.4:c.417G>CLebanonchr12:112453279PathogenicPathogenicNoonan Syndrome 1NG_007459.1:g.39548G>C; NM_002834.4:c.417G>C; NP_002825.3:p.Glu139Asp39750752040513
NM_002834.5:c.1510A>GLebanon; Saudi ArabiaNC_000012.12:g.112489086A>GLikely Pathogenic, PathogenicPathogenicNoonan Syndrome 1; MetachondromatosisNG_007459.1:g.75355A>G; NM_002834.5:c.1510A>G; NP_002825.3:p.Met504Val39750754740562
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