LP19689-6

CTNNB1 gene

Active

Description

The CTNNB1 gene (catenin (cadherin-associated protein), beta 1, 88kDa) [HGNC Gene ID:2514] is located on chromosome 3p21. The protein encoded by this gene is part of a complex of proteins that constitute adherens junctions (AJs). AJs are necessary for the creation and maintenance of epithelial cell layers by regulating cell growth and adhesion between cells. The encoded protein also anchors the actin cytoskeleton and may be responsible for transmitting the contact inhibition signal that causes cells to stop dividing once the epithelial sheet is complete. Finally, this protein binds to the product of the APC gene, which is mutated in adenomatous polyposis of the colon. Mutations in this gene are a cause of colorectal cancer (CRC), pilomatrixoma (PTR), medulloblastoma (MDB), and ovarian cancer. Three transcript variants encoding the same protein have been found for this gene.[provided by RefSeq, Oct 2009] [NCBI Gene ID:1499] 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: CTNNB1 gene
Part Display Name: CTNNB1 gene
Part Type: Component (Describes the core component or analyte measured)
Created On: 2000-05-04
Construct for LOINC Short Name: CTNNB1 gene

Related Codes

Code System	Code	Code Text	Code Version
HUGO Gene Nomenclature Committee (HGNC)	HGNC:2514	CTNNB1
National Center for Biotech Info (NCBI) Gene (National Center for Biotechnology Information (NCBI) Gene)	1499	CTNNB1

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

CodeSystem lookup: https://fhir.loinc.org/CodeSystem/$lookup?system=http://loinc.org&code=LP19689-6
ConceptMap translate: https://fhir.loinc.org/ConceptMap/$translate?system=http://loinc.org&code=LP19689-6

Language Variants Get Info

Tag	Language	Translation
zh-CN	Chinese (China)	CTNB1 基因 Synonyms: Beta-catenin 基因;Beta-连环素基因;Beta-链接素基因;CTNNB;β-catenin 基因;β-连环素基因;β-链接素基因;大肠癌;毛基质瘤;毛母质瘤;结直肠癌;结肠直肠癌;肝母细胞瘤;肝胚细胞瘤;钙依赖粘附素相关蛋白 Beta 基因;钙依赖粘附素相关蛋白β基因;钙化上皮瘤;钙粘素相关蛋白 Beta 基因;钙粘素相关蛋白β基因;钙粘附素相关蛋白 Beta 基因;钙粘附素相关蛋白β基因;钙粘附蛋白相关蛋白 Beta 基因;钙粘附蛋白相关蛋白β基因
et-EE	Estonian (Estonia)	CTNNB1 geen
es-ES	Spanish (Spain)	Gen CTNNB1
it-IT	Italian (Italy)	CTNNB1, gene Synonyms: Gene CTNNB1
tr-TR	Turkish (Turkey)	CTNNB1 geni
ru-RU	Russian (Russian Federation)	CTNNB1 ген
nl-NL	Dutch (Netherlands)	CTNNB1-gen Synonyms: CTNNB1 gen
fr-FR	French (France)	CTNNB1 gène
pl-PL	Polish (Poland)	CTNNB1 gen Synonyms: Gen CTNNB1
el-GR	Greek (Greece)	Γονίδιο CTNNB1 Synonyms: Γονίδιο CTNNB1

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.