LP265702-3
GNAQ gene
Active
Description
The GNAQ (G protein subunit alpha q) gene [HGNC Gene ID:4390] is located on chromosome 9 at 9q21.2. This gene encodes a guanine nucleotide-binding protein. The encoded protein, an alpha subunit in the Gq class, couples a seven-transmembrane domain receptor to activation of phospolipase C-beta. Mutations at this locus have been associated with problems in platelet activation and aggregation. A related pseudogene exists on chromosome 2.[provided by RefSeq, Nov 2010] [NCBI Gene ID:2776] Somatic mutations in GNAQ have been found in approximately 50% of uveal melanomas, with the majority at codon 209 (Q209) within exon 5 of the gene. PMID: 21083380 Source: National Center for Biotechnology Information (NCBI) Gene
Basic Part Properties
- Part Display Name
- GNAQ gene
- Part Type
- Component (Describes the core component or analyte measured)
- Created On
- 2018-01-05
- Construct for LOINC Short Name
- GNAQ gene
LOINC Terminology Service (API) using HL7® FHIR® Get Info
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- CodeSystem lookup
- https:
//fhir.loinc.org/CodeSystem/$lookup?system=http: //loinc.org&code=LP265702-3
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| it-IT | Italian (Italy) | GNAQ, gene Synonyms: Gene GNAQ |
| es-ES | Spanish (Spain) | Gen GNAQ |
| zh-CN | Chinese (China) | GNAQ 基因 |
| nl-NL | Dutch (Netherlands) | GNAQ-gen |
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