CPATH-94421

cpath:CPATH-LOCAL-388597, cpath:CPATH-LOCAL-388597, cpath:CPATH-LOCAL-388598, cpath:CPATH-LOCAL-388598, cpath:CPATH-LOCAL-388599, cpath:CPATH-LOCAL-388599, cpath:CPATH-LOCAL-388600, cpath:CPATH-LOCAL-388600, cpath:CPATH-LOCAL-388601, cpath:CPATH-LOCAL-388601, cpath:CPATH-LOCAL-388602, cpath:CPATH-LOCAL-388602, cpath:CPATH-LOCAL-388603, cpath:CPATH-LOCAL-388603, cpath:CPATH-LOCAL-388604, cpath:CPATH-LOCAL-388604, cpath:CPATH-LOCAL-388605, cpath:CPATH-LOCAL-388605, cpath:CPATH-LOCAL-388606, cpath:CPATH-LOCAL-388606, cpath:CPATH-LOCAL-388607, cpath:CPATH-LOCAL-388607, cpath:CPATH-LOCAL-388608, cpath:CPATH-LOCAL-388608, cpath:CPATH-LOCAL-388609, cpath:CPATH-LOCAL-388609, cpath:CPATH-LOCAL-392821, cpath:CPATH-LOCAL-392821

PAX2_HUMAN, PAX2_HUMAN

FUNCTION: Probable transcription factor that may have a role in kidney cell differentiation. Has a critical role in the development of the urogenital tract, the eyes, and the CNS. SUBCELLULAR LOCATION: Nucleus. ALTERNATIVE PRODUCTS: Event=Alternative splicing; Named isoforms=4; Name=1; IsoId=Q02962-1; Sequence=Displayed; Name=2; Synonyms=Fetal kidney; IsoId=Q02962-2; Sequence=VSP_002346; Name=3; IsoId=Q02962-3; Sequence=VSP_002345; Name=4; IsoId=Q02962-4; Sequence=VSP_002345, VSP_002346; TISSUE SPECIFICITY: Expressed in primitive cells of the kidney, ureter, eye, ear and central nervous system. DEVELOPMENTAL STAGE: Mainly in fetal kidney and juvenile nephrogenic rests. DISEASE: Defects in PAX2 are the cause of renal-coloboma syndrome (RCS) [MIM:120330]; also known as papillorenal syndrome or optic nerve coloboma with renal disease. RCS is an autosomal dominant disease characterized by the association of renal hypoplasia, vesicoureteral reflux and dysplasia of the retina and optic disk. DISEASE: Note=Defects in PAX2 may be responsible for isolated renal hypoplasia as observed in oligomeganephronia, a rare congenital and usually sporadic anomaly characterized by bilateral renal hypoplasia, with a reduced number of enlarged nephrons and without urinary tract abnormalities. SIMILARITY: Contains 1 paired domain. WEB RESOURCE: Name=PAX2 mutation db; URL="http://www.hgu.mrc.ac.uk/Softdata/PAX2/"; WEB RESOURCE: Name=Atlas of Genetics and Cytogenetics in Oncology and Haematology; URL="http://atlasgeneticsoncology.org/Genes/PAX2ID41642ch10q24.html"; WEB RESOURCE: Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/PAX2"; COPYRIGHT: Protein annotation is derived from the UniProt Consortium (http://www.uniprot.org/). Distributed under the Creative Commons Attribution-NoDerivs License., FUNCTION: Probable transcription factor that may have a role in kidney cell differentiation. Has a critical role in the development of the urogenital tract, the eyes, and the CNS. SUBCELLULAR LOCATION: Nucleus. ALTERNATIVE PRODUCTS: Event=Alternative splicing; Named isoforms=4; Name=1; IsoId=Q02962-1; Sequence=Displayed; Name=2; Synonyms=Fetal kidney; IsoId=Q02962-2; Sequence=VSP_002346; Name=3; IsoId=Q02962-3; Sequence=VSP_002345; Name=4; IsoId=Q02962-4; Sequence=VSP_002345, VSP_002346; TISSUE SPECIFICITY: Expressed in primitive cells of the kidney, ureter, eye, ear and central nervous system. DEVELOPMENTAL STAGE: Mainly in fetal kidney and juvenile nephrogenic rests. DISEASE: Defects in PAX2 are the cause of renal-coloboma syndrome (RCS) [MIM:120330]; also known as papillorenal syndrome or optic nerve coloboma with renal disease. RCS is an autosomal dominant disease characterized by the association of renal hypoplasia, vesicoureteral reflux and dysplasia of the retina and optic disk. DISEASE: Note=Defects in PAX2 may be responsible for isolated renal hypoplasia as observed in oligomeganephronia, a rare congenital and usually sporadic anomaly characterized by bilateral renal hypoplasia, with a reduced number of enlarged nephrons and without urinary tract abnormalities. SIMILARITY: Contains 1 paired domain. WEB RESOURCE: Name=PAX2 mutation db; URL="http://www.hgu.mrc.ac.uk/Softdata/PAX2/"; WEB RESOURCE: Name=Atlas of Genetics and Cytogenetics in Oncology and Haematology; URL="http://atlasgeneticsoncology.org/Genes/PAX2ID41642ch10q24.html"; WEB RESOURCE: Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/PAX2"; COPYRIGHT: Protein annotation is derived from the UniProt Consortium (http://www.uniprot.org/). Distributed under the Creative Commons Attribution-NoDerivs License.

entrez-gene:5076