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PTPN11 (NM_002834) - protein tyrosine phosphatase non-receptor type 11

Tyrosine-Protein Phosphatase Non-Receptor Type 11 Isoform 1

Mutations Visualisation

Protein summary

This is preferred isoform of PTPN11 protein. View all 2 isoforms
PTPN11: tyrosine-protein phosphatase non-receptor type 11 isoform 1
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. [provided by RefSeq, Aug 2016]. Sequence Note: The RefSeq transcript and protein were derived from genomic sequence to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on alignments.

Publication Note:
This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications.

Evidence data:
Transcript exon combination :: SRR1803611.69408.1, SRR1803611.229666.1 [ECO:0000332]

##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000351677.7/ ENSP00000340944.3 RefSeq Select criteria :: based on manual assertion, conservation, expression ##RefSeq-Attributes-END##

Strand
+
Chromosome
12
Protein
593 residues
All mutations
180
PTM sites
12
CDS
112,856,915 - 112,942,568
Transcription
112,856,535 - 112,947,717
8.09% of sequence is predicted to be disordered

External references

Mappings retrieved from NCBI & UniProt.
RefSeq
Entrez
gene: 5781
UniProt
Ensembl