PITX2

PITX2
Strwythurau
PDB	Human UniProt search: PDBe RCSB
Rhestr o ddynodwyr PDB
	2L7F, 2L7M, 2LKX
Dynodwyr
Cyfenwau	PITX2, ARP1, Brx1, IDG2, IGDS, IGDS2, IHG2, IRID2, Otlx2, PTX2, RGS, RIEG, RIEG1, RS, paired like homeodomain 2, ASGD4
Dynodwyr allanol	OMIM: 601542 HomoloGene: 55454 GeneCards: PITX2
Patrwm RNA pattern
	Rhagor o gyfeiriadau
Ontoleg y genyn
Gweithrediad moleciwlaidd	• identical protein binding; • protein homodimerization activity; • GO:0000975 transcription cis-regulatory region binding; • sequence-specific DNA binding; • DNA binding; • GO:0001105 transcription coactivator activity; • chromatin DNA binding; • GO:0001077, GO:0001212, GO:0001213, GO:0001211, GO:0001205 DNA-binding transcription activator activity, RNA polymerase II-specific; • GO:0001948, GO:0016582 protein binding; • GO:0000980 RNA polymerase II cis-regulatory region sequence-specific DNA binding; • chromatin binding; • ribonucleoprotein complex binding; • GO:0001131, GO:0001151, GO:0001130, GO:0001204 DNA-binding transcription factor activity; • GO:0001078, GO:0001214, GO:0001206 DNA-binding transcription repressor activity, RNA polymerase II-specific; • transcription factor binding; • phosphoprotein binding; • GO:0001200, GO:0001133, GO:0001201 DNA-binding transcription factor activity, RNA polymerase II-specific;
Cydrannau o'r gell	• cnewyllyn cell; • cytoplasm; • transcription regulator complex; • nucleoplasm;
Prosesau biolegol	• response to vitamin A; • female gonad development; • vascular associated smooth muscle cell differentiation; • GO:0044324, GO:0003256, GO:1901213, GO:0046019, GO:0046020, GO:1900094, GO:0061216, GO:0060994, GO:1902064, GO:0003258, GO:0072212 regulation of transcription by RNA polymerase II; • skeletal muscle tissue development; • cell proliferation involved in outflow tract morphogenesis; • prolactin secreting cell differentiation; • in utero embryonic development; • pituitary gland development; • vasculogenesis; • regulation of cell population proliferation; • myoblast fusion; • hair cell differentiation; • spleen development; • GO:0009373 regulation of transcription, DNA-templated; • transcription by RNA polymerase II; • embryonic camera-type eye development; • ventricular septum morphogenesis; • endodermal digestive tract morphogenesis; • determination of left/right symmetry; • cardiac muscle tissue development; • GO:0060469, GO:0009371 positive regulation of transcription, DNA-templated; • subthalamic nucleus development; • ventricular cardiac muscle cell development; • left/right axis specification; • hypothalamus cell migration; • animal organ morphogenesis; • regulation of cell migration; • heart development; • embryonic digestive tract morphogenesis; • branching involved in blood vessel morphogenesis; • cardiac muscle cell differentiation; • digestive system development; • multicellular organism development; • atrioventricular valve development; • pulmonary vein morphogenesis; • cardiac neural crest cell migration involved in outflow tract morphogenesis; • embryonic hindlimb morphogenesis; • lung development; • superior vena cava morphogenesis; • positive regulation of DNA binding; • extraocular skeletal muscle development; • pulmonary myocardium development; • deltoid tuberosity development; • atrial cardiac muscle tissue morphogenesis; • male gonad development; • anatomical structure morphogenesis; • brain development; • neuron differentiation; • odontogenesis of dentin-containing tooth; • Wnt signaling pathway; • left lung morphogenesis; • somatotropin secreting cell differentiation; • positive regulation of myoblast proliferation; • camera-type eye development; • response to hormone; • odontogenesis; • iris morphogenesis; • neuron migration; • GO:1901227 negative regulation of transcription by RNA polymerase II; • GO:0003257, GO:0010735, GO:1901228, GO:1900622, GO:1904488 positive regulation of transcription by RNA polymerase II;
	Sources:Amigo / QuickGO
Orthologau
	5308
	n/a
	ENSG00000164093
	n/a
	Q99697
	n/a
NM_000325; NM_001204397; NM_001204398; NM_001204399; NM_153426;
	NM_153427
	n/a
NP_000316; NP_001191326; NP_001191327; NP_001191328; NP_700475;
	NP_700476
	n/a
	Wicidata
Gweld/Golygu Bod dynol

Protein sy'n cael ei godio yn y corff dynol gan y genyn PITX2 yw PITX2 a elwir hefyd yn Paired like homeodomain 2 (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 4, band 4q25.^[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 PITX2.

RS
RGS
ARP1
Brx1
IDG2
IGDS
IHG2
PTX2
RIEG
ASGD4
IGDS2
IRID2
Otlx2
RIEG1

Llyfryddiaeth

"Prediction efficiency of PITX2 DNA methylation for prostate cancer survival. ". Genet Mol Res. 2016. PMID 27173224.
"Novel PITX2 gene mutations in patients with Axenfeld-Rieger syndrome. ". Acta Ophthalmol. 2016. PMID 27009473.
"Clinical performance validation of PITX2 DNA methylation as prognostic biomarker in patients with head and neck squamous cell carcinoma. ". PLoS One. 2017. PMID 28617833.
"Atrial fibrillation is associated with hypermethylation in human left atrium, and treatment with decitabine reduces atrial tachyarrhythmias in spontaneously hypertensive rats. ". Transl Res. 2017. PMID 28427903.
"PITX2 DNA Methylation as Biomarker for Individualized Risk Assessment of Prostate Cancer in Core Biopsies.". J Mol Diagn. 2017. PMID 27939865.

Cyfeiriadau

[1] "Human PubMed Reference:".

[2] PITX2 - Cronfa NCBI

[1]

[2]