LP265698-3
EZH2 gene
Active
Descriptions
The EZH2 (enhancer of zeste 2 polycomb repressive complex 2 subunit) gene [HGNC Gene ID:3527] is located on chromosome 7 at 7q36.1. This gene encodes a member of the Polycomb-group (PcG) family. PcG family members form multimeric protein complexes, which are involved in maintaining the transcriptional repressive state of genes over successive cell generations. This protein associates with the embryonic ectoderm development protein, the VAV1 oncoprotein, and the X-linked nuclear protein. This protein may play a role in the hematopoietic and central nervous systems. Multiple alternatively splcied transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Feb 2011] [NCBI Gene ID:2146] Source: National Center for Biotechnology Information (NCBI) Gene
The EZH2 gene, located on chromosome 7, encodes a subunit of a histone methyltransferase enzyme. Histone methyltransferases regulate gene expression by the addition of methyl groups to histones. EZH2 mutations are associated with various cancers, including different types of lymphoma and leukemia as well as solid tumors including breast and prostate cancer. EZH2 mutations are also associated with Weaver syndrome, a genetic disorder with characteristic features that include tall stature, hypertelorism, micrognathia, low-set ears, and a broad forehead. Some patients with Weaver syndrome also have mild intellectual disability and macrocephaly. [MedlinePlus Gene: EZH2] Source: Regenstrief LOINC
Basic Part Properties
- Part Name
- EZH2 gene
- Part Display Name
- EZH2 gene
- Part Type
- Component (Describes the core component or analyte measured)
- Created On
- 2018-01-05
- Construct for LOINC Short Name
- EZH2 gene
LOINC Terminology Service (API) using HL7® FHIR® Get Info
Requests to this service require a free LOINC username and password. Below is a sample of the possible capabilities. See the LOINC Terminology Service documentation for more information.
- CodeSystem lookup
- https:
//fhir.loinc.org/CodeSystem/$lookup?system=http: //loinc.org&code=LP265698-3 - ConceptMap translate
- https:
//fhir.loinc.org/ConceptMap/$translate?system=http: //loinc.org&code=LP265698-3
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| it-IT | Italian (Italy) | EZH2, gene |
| nl-NL | Dutch (Netherlands) | EZH2-gen |
| es-ES | Spanish (Spain) | Gen EZH2 |
| zh-CN | Chinese (China) | EZH2 基因 Synonyms: Enhancer Of Zeste 2 Polycomb Repressive Complex 2 Subunit gene; |
LOINC Copyright
Copyright © 2024 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://