Version 2.78

Description

The TNFRSF1A gene (tumor necrosis factor receptor superfamily, member 1A) [HGNC Gene ID:11916] is located on chromosome 12p13.2. The protein encoded by this gene is a member of the TNF-receptor superfamily. This protein is one of the major receptors for the tumor necrosis factor-alpha. This receptor can activate NF-kappaB, mediate apoptosis, and function as a regulator of inflammation. Antiapoptotic protein BCL2-associated athanogene 4 (BAG4/SODD) and adaptor proteins TRADD and TRAF2 have been shown to interact with this receptor, and thus play regulatory roles in the signal transduction mediated by the receptor. Germline mutations of the extracellular domains of this receptor were found to be associated with the autosomal dominant periodic fever syndrome. The impaired receptor clearance is thought to be a mechanism of the disease. [provided by RefSeq, Jul 2008] [NCBI Gene ID:7132] 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
TNFRSF1A gene
Part Type
Component (Describes the core component or analyte measured)
Created On
2005-03-30
Construct for LOINC Short Name
TNFRSF1A gene

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

CodeSystem lookup
https://fhir.loinc.org/CodeSystem/$lookup?system=http://loinc.org&code=LP35576-5
ConceptMap translate
https://fhir.loinc.org/ConceptMap/$translate?system=http://loinc.org&code=LP35576-5

Language Variants Get Info

Tag Language Translation
zh-CN Chinese (China) TNFRSF1A 基因
Synonyms: CD120a 基因;FPF;MGC19588;p55;p55-R;p60;TBP1;TNF 受体 1 型;TNF 受体超家族, 成员 1A;TNF 结合蛋白 1 基因;TNF-alpha 受体;TNFAR;TNF-R;TNFR1;TNFR55;TNF-R55;TNFR60;TNF-R-I;TNF-α受体;肿瘤坏死因子-alpha 受体;肿瘤坏死因子-α受体;肿瘤坏死因子受体 1 型;肿瘤坏死因子受体超家族, 成员 1A;肿瘤坏死因子结合蛋白 1 基因
et-EE Estonian (Estonia) TNFRSF1A geen
es-ES Spanish (Spain) Gen TNFRSF1A
it-IT Italian (Italy) TNFRSF1A, gene
Synonyms: Gene TNFRSF1A
tr-TR Turkish (Turkey) TNFRSF1A geni
ru-RU Russian (Russian Federation) TNFRSF1A ген
nl-NL Dutch (Netherlands) TNFRSF1A-gen
Synonyms: TNFRSF1A gen