PAX2

PAX2
Dynodwyr
Cyfenwau	PAX2, PAPRS, FSGS7, paired box 2, PAX-2
Dynodwyr allanol	OMIM: 167409 HomoloGene: 2968 GeneCards: PAX2
Patrwm RNA pattern
	; ;
	Rhagor o gyfeiriadau
Ontoleg y genyn
Gweithrediad moleciwlaidd	• DNA binding; • superoxide-generating NAD(P)H oxidase activity; • transcription factor binding; • GO:0001158 cis-regulatory region sequence-specific DNA binding; • GO:0001948, GO:0016582 protein binding; • GO:0001200, GO:0001133, GO:0001201 DNA-binding transcription factor activity, RNA polymerase II-specific; • GO:0001131, GO:0001151, GO:0001130, GO:0001204 DNA-binding transcription factor activity;
Cydrannau o'r gell	• Golgi apparatus; • centriolar satellite; • microtubule organizing center; • protein-DNA complex; • nucleolus; • lysosome; • cnewyllyn cell; • GO:0009327 protein-containing complex;
Prosesau biolegol	• cellular response to hydrogen peroxide; • cellular response to glucose stimulus; • cochlea development; • pronephros development; • cellular response to retinoic acid; • regulation of metanephric nephron tubule epithelial cell differentiation; • animal organ development; • ureter development; • cell differentiation; • negative regulation of cysteine-type endopeptidase activity involved in apoptotic process; • positive regulation of branching involved in ureteric bud morphogenesis; • GO:0009373 regulation of transcription, DNA-templated; • positive regulation of metanephric DCT cell differentiation; • regulation of metanephros size; • axonogenesis; • protein kinase B signaling; • negative regulation of mesenchymal cell apoptotic process involved in metanephric nephron morphogenesis; • negative regulation of apoptotic process involved in metanephric collecting duct development; • positive regulation of epithelial cell proliferation; • optic nerve morphogenesis; • pronephric field specification; • positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis; • metanephric mesenchymal cell differentiation; • GO:0010260 heneiddio; • metanephric epithelium development; • mesenchymal to epithelial transition involved in metanephros morphogenesis; • negative regulation of apoptotic process; • glial cell differentiation; • transcription by RNA polymerase II; • retinal pigment epithelium development; • nephric duct formation; • transcription, DNA-templated; • stem cell differentiation; • metanephric distal convoluted tubule development; • reactive oxygen species metabolic process; • negative regulation of mesenchymal cell apoptotic process involved in metanephros development; • mesonephros development; • optic nerve structural organization; • GO:0060469, GO:0009371 positive regulation of transcription, DNA-templated; • cellular response to epidermal growth factor stimulus; • metanephric nephron tubule formation; • positive regulation of metanephric glomerulus development; • multicellular organism development; • branching involved in ureteric bud morphogenesis; • neural tube closure; • response to nutrient levels; • negative regulation of apoptotic process involved in metanephric nephron tubule development; • ureter maturation; • inner ear morphogenesis; • cochlea morphogenesis; • positive regulation of optic nerve formation; • positive regulation of cell population proliferation; • optic cup morphogenesis involved in camera-type eye development; • urogenital system development; • cell fate determination; • negative regulation of programmed cell death; • vestibulocochlear nerve formation; • camera-type eye development; • metanephric collecting duct development; • negative regulation of reactive oxygen species metabolic process; • mesodermal cell fate specification; • GO:0045996 negative regulation of transcription, DNA-templated; • metanephric mesenchyme development; • optic chiasma development; • optic nerve development; • GO:0003257, GO:0010735, GO:1901228, GO:1900622, GO:1904488 positive regulation of transcription by RNA polymerase II; • golwg; • negative regulation of cytolysis; • brain morphogenesis; • mesenchymal to epithelial transition;
	Sources:Amigo / QuickGO
Orthologau
	5076
	n/a
	ENSG00000075891
	n/a
	Q02962; Q5SZP1
	n/a
NM_003990; NM_000278; NM_001304569; NM_003987; NM_003988;
	NM_003989; NM_001374303
	n/a
NP_000269; NP_001291498; NP_003978; NP_003979; NP_003980;
	NP_003981; NP_001361232
	n/a
	Wicidata
Gweld/Golygu Bod dynol

Protein sy'n cael ei godio yn y corff dynol gan y genyn PAX2 yw PAX2 a elwir hefyd yn Paired box protein Pax-2 a Paired box 2 (Saesneg). Segment o DNA yw'r genyn, sy'n amgodio ffwythiant arbennig. Mae'r genyn yma wedi ei leoli ar yr edefyn blaen o gromosom dynol 10, band 10q24.31.^[2]

Cyfystyron[golygu | golygu cod]

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 PAX2.

FSGS7
PAPRS

Llyfryddiaeth[golygu | golygu cod]

"Association of PAX2 and Other Gene Mutations with the Clinical Manifestations of Renal Coloboma Syndrome. ". PLoS One. 2015. PMID 26571382.
"The significance of Pax2 expression in the ureter epithelium of children with vesicoureteric reflux. ". Hum Pathol. 2015. PMID 25912758.
"Rethinking genotype-phenotype correlations in papillorenal syndrome: a case report on an unusual congenital camptodactyly and skeletal deformity with a heterogeneous PAX2 mutation of hexanucleotide duplication. ". Gene. 2018. PMID 29054766.
"Genetic association between PAX2 and mullerian duct anomalies in Han Chinese females. ". J Assist Reprod Genet. 2017. PMID 27722936.
"[Influence of PAX2 gene silencing on renal interstitial fibrosis in rats].". Zhongguo Dang Dai Er Ke Za Zhi. 2016. PMID 27324546.

Cyfeiriadau[golygu | golygu cod]

[1] "Human PubMed Reference:".

[2] PAX2 - Cronfa NCBI

[1]

[2]