Version 2.78

Description

The TP53 gene (tumor protein p53) [HGNC Gene ID:11998] is located on chromosome 17p13.1. This gene encodes a tumor suppressor protein containing transcriptional activation, DNA binding, and oligomerization domains. The encoded protein responds to diverse cellular stresses to regulate expression of target genes, thereby inducing cell cycle arrest, apoptosis, senescence, DNA repair, or changes in metabolism. Mutations in this gene are associated with a variety of human cancers, including hereditary cancers such as Li-Fraumeni syndrome. Alternative splicing of this gene and the use of alternate promoters result in multiple transcript variants and isoforms. Additional isoforms have also been shown to result from the use of alternate translation initiation codons (PMIDs: 12032546, 20937277). [provided by RefSeq, Feb 2013] [NCBI Gene ID:7157] 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
TP53 gene
Part Type
Component (Describes the core component or analyte measured)
Created On
2000-05-04
Construct for LOINC Short Name
TP53 gene

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

CodeSystem lookup
https://fhir.loinc.org/CodeSystem/$lookup?system=http://loinc.org&code=LP19769-6
ConceptMap translate
https://fhir.loinc.org/ConceptMap/$translate?system=http://loinc.org&code=LP19769-6

Language Variants Get Info

Tag Language Translation
zh-CN Chinese (China) TP53 基因
Synonyms: Li-Fraumeni 综合征;利弗劳梅尼综合征;家族性肿瘤综合征;细胞性肿瘤抗原 p53;细胞肿瘤抗原 p53;肿瘤蛋白 p53
et-EE Estonian (Estonia) TP53 geen
es-ES Spanish (Spain) Gen TP53
it-IT Italian (Italy) TP53, gene
Synonyms: Gene Tp53
tr-TR Turkish (Turkey) TP53 geni
ru-RU Russian (Russian Federation) TP53 ген
nl-NL Dutch (Netherlands) TP53-gen
Synonyms: TP53 gen