LP36473-4
JAK2 gene
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Descriptions
The JAK2 gene (Janus kinase 2) [HGNC Gene ID:6192] is located on chromosome 9p24. This gene product is a protein tyrosine kinase involved in a specific subset of cytokine receptor signaling pathways. It has been found to be constituitively associated with the prolactin receptor and is required for responses to gamma interferon. Mice that do not express an active protein for this gene exhibit embryonic lethality associated with the absence of definitive erythropoiesis. [provided by RefSeq, Jul 2008] [NCBI Gene ID:3717] Source: National Center for Biotechnology Information (NCBI) Gene
The JAK2 gene is located on chromosome 9p24. Mutations in exon 12 of the JAK2 gene are present in patients with a distinctive myeloproliferative syndrome. These patients display a clinical phenotype and bone marrow histologic findings which differ from those observed in V617F-positive patients. In most cases they have marked erythrocytosis, absence of leukocytosis or thrombocytosis, low serum erythropoietin levels and isolated erythroid hyperplasia in the bone marrow. PMID: 7267906 Source: Regenstrief LOINC
Basic Part Properties
- Part Name
- JAK2 gene
- Part Display Name
- JAK2 gene
- Part Type
- Component (Describes the core component or analyte measured)
- Created On
- 2006-01-11
- Construct for LOINC Short Name
- JAK2 gene
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Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| zh-CN | Chinese (China) | JAK2 基因 Synonyms: Janus 激酶 2 基因; |
| et-EE | Estonian (Estonia) | JAK2 geen |
| es-ES | Spanish (Spain) | Gen JAK2 |
| it-IT | Italian (Italy) | JAK2, gene Synonyms: Gene JAK2 |
| tr-TR | Turkish (Turkey) | JAK2 geni |
| ru-RU | Russian (Russian Federation) | JAK2 ген |
| nl-NL | Dutch (Netherlands) | JAK2-gen Synonyms: JAK2 gen |
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