Version 2.78

Description

The TBX5 gene (T-box 5) [HGNC Gene ID:11604] is located on chromosome 12q24.1. This gene is a member of a phylogenetically conserved family of genes that share a common DNA-binding domain, the T-box. T-box genes encode transcription factors involved in the regulation of developmental processes. This gene is closely linked to related family member T-box 3 (ulnar mammary syndrome) on human chromosome 12. The encoded protein may play a role in heart development and specification of limb identity. Mutations in this gene have been associated with Holt-Oram syndrome, a developmental disorder affecting the heart and upper limbs. Several transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Jul 2008] [NCBI Gene ID:6910] 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
TBX5 gene
Part Display Name
TBX5 gene
Part Type
Component (Describes the core component or analyte measured)
Created On
2005-01-03
Construct for LOINC Short Name
TBX5 gene

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

CodeSystem lookup
https://fhir.loinc.org/CodeSystem/$lookup?system=http://loinc.org&code=LP34977-6
ConceptMap translate
https://fhir.loinc.org/ConceptMap/$translate?system=http://loinc.org&code=LP34977-6

Language Variants Get Info

Tag Language Translation
zh-CN Chinese (China) TBX5 基因
Synonyms: Hand-heart syndrome;Holt-Oram 综合征;HOS;T-box 5;T结构域转录因子家族成员 5;心手综合征;转录因子T盒家族成员 5
et-EE Estonian (Estonia) TBX5 geen
es-ES Spanish (Spain) Gen TBX5
it-IT Italian (Italy) TBX5, gene
Synonyms: Gene TBX5
tr-TR Turkish (Turkey) TBX5 geni
ru-RU Russian (Russian Federation) TBX5 ген
nl-NL Dutch (Netherlands) TBX5-gen
Synonyms: TBX5 gen