LP61791-7

TGFBR2 gene

Active

Description

The TGFBR2 gene (transforming growth factor, beta receptor II (70/80kDa)) [HGNC Gene ID:11773] is located on chromosome 3p22. This gene encodes a member of the Ser/Thr protein kinase family and the TGFB receptor subfamily. The encoded protein is a transmembrane protein that has a protein kinase domain, forms a heterodimeric complex with another receptor protein, and binds TGF-beta. This receptor/ligand complex phosphorylates proteins, which then enter the nucleus and regulate the transcription of a subset of genes related to cell proliferation. Mutations in this gene have been associated with Marfan Syndrome, Loeys-Deitz Aortic Aneurysm Syndrome, and the development of various types of tumors. Alternatively spliced transcript variants encoding different isoforms have been characterized. [provided by RefSeq, Jul 2008] [NCBI Gene ID:7048] 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: TGFBR2 gene
Part Display Name: TGFBR2 gene
Part Type: Component (Describes the core component or analyte measured)
Created On: 2006-12-12
Construct for LOINC Short Name: TGFBR2 gene

Related Codes

Code System	Code	Code Text	Code Version
HUGO Gene Nomenclature Committee (HGNC)	HGNC:11773	TGFBR2
National Center for Biotech Info (NCBI) Gene (National Center for Biotechnology Information (NCBI) Gene)	7048	TGFBR2

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

CodeSystem lookup: https://fhir.loinc.org/CodeSystem/$lookup?system=http://loinc.org&code=LP61791-7
ConceptMap translate: https://fhir.loinc.org/ConceptMap/$translate?system=http://loinc.org&code=LP61791-7

Language Variants Get Info

Tag	Language	Translation
zh-CN	Chinese (China)	TGFBR2 基因 Synonyms: AAT3;FAA3;HNPCC6;MFS2;RIIC;TAAD2;TGF-beta receptor type-2 precursor;TGF-beta 受体 2 型前体;TGFbeta-RII;TGFR-2;TGF-β 受体 2 型前体;transforming growth factor, beta receptor II (70/80kDa);转化生长因子, beta 受体 II (70/80kDa);转化生长因子, β 受体 II (70/80kDa)
et-EE	Estonian (Estonia)	TGFBR2 geen
es-ES	Spanish (Spain)	Gen TGFBR2
it-IT	Italian (Italy)	TGFBR2, gene Synonyms: Gene TGFBR2
tr-TR	Turkish (Turkey)	TGFBR2 geni
ru-RU	Russian (Russian Federation)	TGFBR2 ген
nl-NL	Dutch (Netherlands)	TGFBR2-gen Synonyms: TGFBR2 gen
fr-FR	French (France)	TGFBR2 gène
pl-PL	Polish (Poland)	TGFBR2 gen Synonyms: Gen TGFBR2
el-GR	Greek (Greece)	Γονίδιο TGFBR2 Synonyms: Γονίδιο TGFBR2

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://loinc.org/license for the full LOINC copyright and license.