LP101430-9
NPHS2 gene
Active
Descriptions
Mutations in the NPHS2 gene, which codes for the protein called podocin, can cause focal segmental glomerulosclerosis. This is a recessive form of Frontal Segmental Glomerulosclerosis. An affected individual has two mutant copies of the NPHS2 gene, in contrast to ACTN4 and TRPC6 mediated forms of disease, which are dominant and require only one mutant copy of the gene. NPHS2-mediated FSGS is resistant to treatment with steroids Copyright Text is available under the Creative Commons Attribution/Share-Alike License. See http://creativecommons.org/licenses/by-sa/3.0/ for details. Source: Wikipedia, Wikipedia
The NPHS2 gene (nephrosis 2, idiopathic, steroid-resistant (podocin)) [HGNC Gene ID:13394] is located on chromosome 1q25.2. This gene encodes a protein that plays a role in the regulation of glomerular permeability. Mutations in this gene cause steroid-resistant nephrotic syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014] [NCBI Gene ID:7827] Source: National Center for Biotechnology Information (NCBI) Gene
Basic Part Properties
- Part Name
- NPHS2 gene
- Part Display Name
- NPHS2 gene
- Part Type
- Component (Describes the core component or analyte measured)
- Created On
- 2010-08-02
- Construct for LOINC Short Name
- NPHS2 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) | NPHS2 基因 Synonyms: PDCN; |
| et-EE | Estonian (Estonia) | NPHS2 geen |
| es-ES | Spanish (Spain) | Gen NPHS2 |
| it-IT | Italian (Italy) | NPHS2, gene Synonyms: Gene NPHS2 |
| tr-TR | Turkish (Turkey) | NPHS2 geni |
| ru-RU | Russian (Russian Federation) | NPHS2 ген |
| nl-NL | Dutch (Netherlands) | NPHS2-gen Synonyms: NPHS2 gen |
| fr-FR | French (France) | NPHS2 gène |
| pl-PL | Polish (Poland) | NPHS2 gen Synonyms: Gen NPHS2 |
| el-GR | Greek (Greece) | Γονίδιο NPHS2 Synonyms: Γονίδιο NPHS2 |
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://