LP35572-4
NOD2 gene
Active
Description
The NOD2 gene (nucleotide-binding oligomerization domain containing 2) [HGNC Gene ID:5331] is located on chromosome 16q21. This gene is a member of the Nod1/Apaf-1 family and encodes a protein with two caspase recruitment (CARD) domains and six leucine-rich repeats (LRRs). The protein is primarily expressed in the peripheral blood leukocytes. It plays a role in the immune response to intracellular bacterial lipopolysaccharides (LPS) by recognizing the muramyl dipeptide (MDP) derived from them and activating the NFKB protein. Mutations in this gene have been associated with Crohn disease and Blau syndrome. Alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Jun 2014] [NCBI Gene ID:64127] 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
- NOD2 gene
- Part Type
- Component (Describes the core component or analyte measured)
- Created On
- 2005-03-29
- Construct for LOINC Short Name
- NOD2 gene
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Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| zh-CN | Chinese (China) | CARD15 基因 Synonyms: ACUG; |
| et-EE | Estonian (Estonia) | NOD2 geen |
| es-ES | Spanish (Spain) | Gen CARD15 |
| it-IT | Italian (Italy) | NOD2, gene Synonyms: Gene NOD2 |
| tr-TR | Turkish (Turkey) | NOD2 geni |
| ru-RU | Russian (Russian Federation) | NOD2 ген |
| nl-NL | Dutch (Netherlands) | NOD2-gen Synonyms: NOD2 gen |
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