TBX5

TBX5
Strwythurau PDB Human UniProt search: PDBe RCSB Rhestr o ddynodwyr PDB 2X6U, 2X6V, 4S0H, 5BQD
Dynodwyr
Cyfenwau	TBX5, HOS, T-box 5, T-box transcription factor 5
Dynodwyr allanol	OMIM: 601620 HomoloGene: 160 GeneCards: TBX5
Patrwm RNA pattern Rhagor o gyfeiriadau
Ontoleg y genyn Gweithrediad moleciwlaidd • sequence-specific DNA binding • RNA polymerase II transcription regulatory region sequence-specific DNA binding • GO:0001077, GO:0001212, GO:0001213, GO:0001211, GO:0001205 DNA-binding transcription activator activity, RNA polymerase II-specific • transcription factor binding • GO:0001948, GO:0016582 protein binding • GO:0001131, GO:0001151, GO:0001130, GO:0001204 DNA-binding transcription factor activity • DNA binding • GO:0000980 RNA polymerase II cis-regulatory region sequence-specific DNA binding • GO:0001200, GO:0001133, GO:0001201 DNA-binding transcription factor activity, RNA polymerase II-specific Cydrannau o'r gell • nucleoplasm • cnewyllyn cell • GO:0009327 protein-containing complex • protein-DNA complex • cytoplasm Prosesau biolegol • pattern specification process • forelimb morphogenesis • ventricular cardiac muscle tissue development • GO:0009373 regulation of transcription, DNA-templated • bundle of His development • lung development • endocardial cushion development • cardiac muscle cell differentiation • cell-cell signaling • transcription, DNA-templated • morphogenesis of an epithelium • atrial septum morphogenesis • multicellular organism development • negative regulation of cell migration • positive regulation of cardiac muscle cell proliferation • atrioventricular valve morphogenesis • cell migration involved in coronary vasculogenesis • embryonic limb morphogenesis • pericardium development • positive regulation of cardioblast differentiation • positive regulation of secondary heart field cardioblast proliferation • transcription initiation from RNA polymerase II promoter • negative regulation of cardiac muscle cell proliferation • atrial septum development • embryonic forelimb morphogenesis • negative regulation of epithelial to mesenchymal transition • negative regulation of cell population proliferation • cardiac left ventricle formation • ventricular septum development • heart development • GO:0060469, GO:0009371 positive regulation of transcription, DNA-templated • GO:0003257, GO:0010735, GO:1901228, GO:1900622, GO:1904488 positive regulation of transcription by RNA polymerase II Sources:Amigo / QuickGO
Orthologau
Species	Bod dynol	Llygoden
Entrez	6910	n/a
Ensembl	ENSG00000089225	n/a
UniProt	Q99593	n/a
RefSeq (mRNA)	NM_181486 NM_000192 NM_080717 NM_080718	n/a
RefSeq (protein)	NP_000183 NP_542448 NP_852259	n/a
Lleoliad (UCSC)	n/a	n/a
PubMed search		n/a
Wicidata
Gweld/Golygu Bod dynol

Protein sy'n cael ei godio yn y corff dynol gan y genyn TBX5 yw TBX5 a elwir hefyd yn T-box 5 (Saesneg). Segment o DNA yw'r genyn, sy'n amgodio ffwythiant arbennig. Mae'r genyn yma wedi ei leoli ar yr edefyn ôl o gromosom dynol 12, band 12q24.21.

Cyfystyron

Yn aml mae gan enynnau lawer o gyfystyron. Mae hyn oherwydd eu bod yn aml yn cael eu darganfod gan nifer o bobl mewn cyd-destunau gwahanol heb wybod mai'r un genynnau oeddyn nhw. Hefyd mae gan wahanol gymunedau gwyddonol safonau gwahanol ar gyfer enwi genynnau. Dyma restr o gyfystyron ar gyfer y genyn TBX5.

• HOS

Llyfryddiaeth

• "A unique TBX5 microdeletion with microinsertion detected in patient with Holt-Oram syndrome. ". Am J Med Genet A. 2015. PMID 26780237.
• "Exome sequencing identifies a c.148-1G>C mutation of TBX5 in a Holt-Oram family with unusual genotype-phenotype correlations. ". Cell Physiol Biochem. 2015. PMID 26401820.
• "Identification of a novel and functional mutation in the TBX5 gene in a patient by screening from 354 patients with isolated ventricular septal defect. ". Eur J Med Genet. 2017. PMID 28434921.
• "Common Variants in the TBX5 Gene Associated with Atrial Fibrillation in a Chinese Han Population. ". PLoS One. 2016. PMID 27479212.
• "Prevalence and Spectrum of TBX5 Mutation in Patients with Lone Atrial Fibrillation.". Int J Med Sci. 2016. PMID 26917986.