Version 2.78

Description

The SMAD4 gene (SMAD family member 4) [HGNC Gene ID:6770] is located on chromosome 18q21.1. This gene encodes a member of the Smad family of signal transduction proteins. Smad proteins are phosphorylated and activated by transmembrane serine-threonine receptor kinases in response to TGF-beta signaling. The product of this gene forms homomeric complexes and heteromeric complexes with other activated Smad proteins, which then accumulate in the nucleus and regulate the transcription of target genes. This protein binds to DNA and recognizes an 8-bp palindromic sequence (GTCTAGAC) called the Smad-binding element (SBE). The Smad proteins are subject to complex regulation by post-translational modifications. Mutations or deletions in this gene have been shown to result in pancreatic cancer, juvenile polyposis syndrome, and hereditary hemorrhagic telangiectasia syndrome. [provided by RefSeq, Oct 2009] [NCBI Gene ID:4089] Source: National Center for Biotechnology Information (NCBI) Gene,

Basic Part Properties

Part Display Name
SMAD4 gene
Part Type
Component (Describes the core component or analyte measured)
Created On
2015-05-06
Construct for LOINC Short Name
SMAD4 gene

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

CodeSystem lookup
https://fhir.loinc.org/CodeSystem/$lookup?system=http://loinc.org&code=LP190792-4

Language Variants Get Info

Tag Language Translation
zh-CN Chinese (China) SMAD4 基因
Synonyms: SMAD 家族成员 4;SMAD Family Member 4;Deletion Target In Pancreatic Carcinoma 4;MAD Homolog 4;MAD, Mothers Against Decapentaplegic Homolog 4 (Drosophila);Mothers Against Decapentaplegic, Drosophila, Homolog Of, 4;SMAD, Mothers Against DPP Homolog 4 (Drosophila
es-ES Spanish (Spain) Gen SMAD4
it-IT Italian (Italy) SMAD4, gene
Synonyms: Gene SMAD4
tr-TR Turkish (Turkey) SMAD4 geni
nl-NL Dutch (Netherlands) SMAD4-gen
Synonyms: SMAD4 gen