LP32678-2
PTPN11 gene
Active
Description
The PTPN11 gene (protein tyrosine phosphatase, non-receptor type 11) [HGNC Gene ID:9644] is located on chromosome 12q24. 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. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2012] [NCBI Gene ID:5781] Source: National Center for Biotechnology Information (NCBI) Gene
Reference Information
| Type | Source | Reference |
|---|---|---|
| Webcontent | Online Mendelian Inheritance in Man®Copyright OMIM® and Online Mendelian Inheritance in Man® are registered trademarks of the Johns Hopkins University. | Link to OMIM |
Basic Part Properties
- Part Display Name
- PTPN11 gene
- Part Type
- Component (Describes the core component or analyte measured)
- Created On
- 2003-10-23
- Construct for LOINC Short Name
- PTPN11 gene
LOINC Terminology Service (API) using HL7® FHIR® Get Info
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- CodeSystem lookup
- https:
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Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| zh-CN | Chinese (China) | PTPN11 基因 Synonyms: BPTP3; |
| et-EE | Estonian (Estonia) | PTPN11 geen |
| es-ES | Spanish (Spain) | Gen PTPN11 |
| it-IT | Italian (Italy) | PTPN11, gene Synonyms: Gene PTPN11 |
| tr-TR | Turkish (Turkey) | PTPN11 geni |
| ru-RU | Russian (Russian Federation) | PTPN11 ген |
| nl-NL | Dutch (Netherlands) | PTPN11-gen Synonyms: PTPN11 gen |
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