LP36911-3
NF2 gene
Active
Description
The NF2 gene (neurofibromin 2 (merlin)) [HGNC Gene ID:7773] is located on chromosome 22q12.2. This gene encodes a protein that is similar to some members of the ERM (ezrin, radixin, moesin) family of proteins that are thought to link cytoskeletal components with proteins in the cell membrane. This gene product has been shown to interact with cell-surface proteins, proteins involved in cytoskeletal dynamics and proteins involved in regulating ion transport. This gene is expressed at high levels during embryonic development; in adults, significant expression is found in Schwann cells, meningeal cells, lens and nerve. Mutations in this gene are associated with neurofibromatosis type II which is characterized by nervous system and skin tumors and ocular abnormalities. Two predominant isoforms and a number of minor isoforms are produced by alternatively spliced transcripts. [provided by RefSeq, Jul 2008] [NCBI Gene ID:4771] 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
- NF2 gene
- Part Type
- Component (Describes the core component or analyte measured)
- Created On
- 2006-05-08
- Construct for LOINC Short Name
- NF2 gene
LOINC Terminology Service (API) using HL7® FHIR® Get Info
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- CodeSystem lookup
- https:
//fhir.loinc.org/CodeSystem/$lookup?system=http: //loinc.org&code=LP36911-3 - ConceptMap translate
- https:
//fhir.loinc.org/ConceptMap/$translate?system=http: //loinc.org&code=LP36911-3
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| zh-CN | Chinese (China) | NF2 基因 Synonyms: ACN; |
| et-EE | Estonian (Estonia) | NF2 geen |
| es-ES | Spanish (Spain) | Gen NF2 |
| it-IT | Italian (Italy) | NF2, gene Synonyms: Gene NF2 |
| tr-TR | Turkish (Turkey) | NF2 geni |
| ru-RU | Russian (Russian Federation) | NF2 ген |
| nl-NL | Dutch (Netherlands) | NF2-gen Synonyms: NF2 gen |
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