Version 2.80

Description

The EGR2 gene (early growth response 2) [HGNC Gene ID:3239] is located on chromosome 10q21.1. The protein encoded by this gene is a transcription factor with three tandem C2H2-type zinc fingers. Defects in this gene are associated with Charcot-Marie-Tooth disease type 1D (CMT1D), Charcot-Marie-Tooth disease type 4E (CMT4E), and with Dejerine-Sottas syndrome (DSS). Multiple transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Oct 2008] [NCBI Gene ID:1959] 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
EGR2 gene
Part Display Name
EGR2 gene
Part Type
Component (Describes the core component or analyte measured)
Created On
2003-08-08
Construct for LOINC Short Name
EGR2 gene

LOINC Terminology Service (API) using HL7® FHIR® Get Info

CodeSystem lookup
https://fhir.loinc.org/CodeSystem/$lookup?system=http://loinc.org&code=LP31869-8
ConceptMap translate
https://fhir.loinc.org/ConceptMap/$translate?system=http://loinc.org&code=LP31869-8

Language Variants Get Info

Tag Language Translation
zh-CN Chinese (China) EGR2 基因
Synonyms: KROX20;Krox-20;早期生长反应因子 2;早期生长反应蛋白 2;早期生长响应蛋白 2
es-ES Spanish (Spain) Gen EGR2
it-IT Italian (Italy) EGR2, gene
Synonyms: Gene EGR2
et-EE Estonian (Estonia) EGR2 geen
tr-TR Turkish (Turkey) EGR2 geni
ru-RU Russian (Russian Federation) EGR2 ген
nl-NL Dutch (Netherlands) EGR2-gen
Synonyms: EGR2 gen
el-GR Greek (Greece) Γονίδιο EGR2
Synonyms: Γονίδιο EGR2