Version 2.78

Description

The CDH1 gene (cadherin 1, type 1, E-cadherin (epithelial)) [HGNC Gene ID:1748] is located on chromosome 16q22.1. This gene is a classical cadherin from the cadherin superfamily. The encoded protein is a calcium dependent cell-cell adhesion glycoprotein comprised of five extracellular cadherin repeats, a transmembrane region and a highly conserved cytoplasmic tail. Mutations in this gene are correlated with gastric, breast, colorectal, thyroid and ovarian cancer. Loss of function is thought to contribute to progression in cancer by increasing proliferation, invasion, and/or metastasis. The ectodomain of this protein mediates bacterial adhesion to mammalian cells and the cytoplasmic domain is required for internalization. Identified transcript variants arise from mutation at consensus splice sites. [provided by RefSeq, Jul 2008] [NCBI Gene ID:999] 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
CDH1 gene
Part Display Name
CDH1 gene
Part Type
Component (Describes the core component or analyte measured)
Created On
2000-05-04
Construct for LOINC Short Name
CDH1 gene

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

CodeSystem lookup
https://fhir.loinc.org/CodeSystem/$lookup?system=http://loinc.org&code=LP19682-1
ConceptMap translate
https://fhir.loinc.org/ConceptMap/$translate?system=http://loinc.org&code=LP19682-1

Language Variants Get Info

Tag Language Translation
zh-CN Chinese (China) CDH1 基因
Synonyms: CDHE;E-cadherin 基因;E-钙依赖性粘附蛋白基因;E-钙依赖性黏附蛋白基因;E-钙粘素基因;E-钙粘蛋白基因;E-钙粘连蛋白基因;E-钙粘附素基因;E-钙黏蛋白基因;UVO;Uvomorulin;上皮型钙粘蛋白;上皮型钙黏蛋白;上皮细胞型钙依赖性粘附蛋白;上皮细胞型钙依赖性粘附蛋白基因;桑椹胚粘着蛋白;桑椹胚黏着蛋白;钙依赖性粘附蛋白 1;钙粘素 1;钙粘连蛋白 1;钙粘附素 1
et-EE Estonian (Estonia) CDH1 geen
es-ES Spanish (Spain) Gen CDH1
it-IT Italian (Italy) CDH1, gene
Synonyms: Gene CDH1
tr-TR Turkish (Turkey) CDH1 geni
ru-RU Russian (Russian Federation) CDH1 ген
nl-NL Dutch (Netherlands) CDH1-gen
Synonyms: CDH1 gen