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
	6910
	n/a
	ENSG00000089225
	n/a
	Q99593
	n/a
	NM_181486; NM_000192; NM_080717; NM_080718
	n/a
	NP_000183; NP_542448; NP_852259
	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.^[2]

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.

Cyfeiriadau

[1] "Human PubMed Reference:".

[2] TBX5 - Cronfa NCBI

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[2]