LP63489-6
TSC2 gene
Active
Description
The TSC2 gene (tuberous sclerosis 2) [HGNC Gene ID:12363] is located on chromosome 16p13.3. Mutations in this gene lead to tuberous sclerosis complex. Its gene product is believed to be a tumor suppressor and is able to stimulate specific GTPases. The protein associates with hamartin in a cytosolic complex, possibly acting as a chaperone for hamartin. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008] [NCBI Gene ID:7249] 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 Name
- TSC2 gene
- Part Display Name
- TSC2 gene
- Part Type
- Component (Describes the core component or analyte measured)
- Created On
- 2007-04-19
- Construct for LOINC Short Name
- TSC2 gene
LOINC Terminology Service (API) using HL7® FHIR® Get Info
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Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| zh-CN | Chinese (China) | TSC2 基因 Synonyms: 结节性脑硬化 2（Tuberous sclerosis 2， |
| et-EE | Estonian (Estonia) | TSC2 geen |
| es-ES | Spanish (Spain) | Gen TSC2 |
| it-IT | Italian (Italy) | TSC2, gene Synonyms: Gene TSC2 |
| tr-TR | Turkish (Turkey) | TSC2 geni |
| ru-RU | Russian (Russian Federation) | TSC2 ген |
| nl-NL | Dutch (Netherlands) | TSC2-gen Synonyms: TSC2 gen |
| fr-FR | French (France) | TSC2 gène |
| pl-PL | Polish (Poland) | TSC2 gen Synonyms: Gen TSC2 |
| el-GR | Greek (Greece) | Γονίδιο TSC2 Synonyms: Γονίδιο TSC2 |
LOINC Copyright
Copyright © Regenstrief Institute, Inc. All Rights Reserved. To the extent included herein, the LOINC table and LOINC codes are copyright © Regenstrief Institute, Inc. and the Logical Observation Identifiers Names and Codes (LOINC) Committee. See https://