PAX2
entrez
5076
canonical
uniprot
Q02962
canonical
ensembl
ENSG00000075891
resolver
ensp
ENSP00000347385
resolver
ensp
ENSP00000359319
resolver
ensp
ENSP00000396259
resolver
ensp
ENSP00000398652
resolver
ensp
ENSP00000516729
resolver
ensp
ENSP00000516730
resolver
enst
ENST00000427256
resolver
enst
ENST00000707078
resolver
enst
ENST00000707079
resolver
genesymbol
PAX2
resolver
hgnc
HGNC:8616
resolver
uniprot
A0A9L9PXU6
resolver
uniprot
A0A9L9PYK3
resolver
uniprot
Q15105
resolver
uniprot
Q15110
resolver
uniprot
Q15837
resolver
uniprot
Q5SZP1
resolver
uniprot
Q5SZP2
resolver
uniprot
Q5SZP3
resolver
uniprot_entry
A0A9L9PXU6_HUMAN
resolver
uniprot_entry
A0A9L9PYK3_HUMAN
resolver
uniprot_entry
PAX2_HUMAN
resolver
uniprot_entry
Q5SZP1_HUMAN
resolver
uniprot_sec
Q15105
resolver
uniprot_sec
Q15110
resolver
uniprot_sec
Q15837
resolver
uniprot_sec
Q5SZP2
resolver
uniprot_sec
Q5SZP3
resolver
amino_acid_sequence
MDMHCKADPFSAMHPGHGGVNQLGGVFVNGRPLPDVVRQRIVELAHQGVRPCDISRQLRVSHGCVSKILGRYYETGSIKPGVIGGSKPKVATPKVVDKIAEYKRQNPTMFAWEIRDRLLAEGICDNDTVPSVSSINRIIRTKVQQPFHPTPDGAGTGVTAPGHTIVPSTASPPVSSASNDPVGSYSINGILGIPRSNGEKRKRDEVEVYTDPAHIRGGGGLHLVWTLRDVSEGSVPNGDSQSGVDSLRKHLRADTFTQQQLEALDRVFERPSYPDVFQASEHIKSEQGNEYSLPALTPGLDEVKSSLSASTNPELGSNVSGTQTYPVVTGRDMASTTLPGYPPHVPPTGQGSYPTSTLAGMVPGSEFSGNPYSHPQYTAYNEAWRFSNPALLSSPYYYSAAPRGSAPAAAAAAYDRH
uniprot
proteins
disease_involvement
DISEASE: Papillorenal syndrome (PAPRS) [MIM:120330]: An autosomal dominant disorder characterized by both ocular and renal anomalies, but may also include vesicoureteral reflux, high frequency hearing loss, central nervous system anomalies, and/or genital anomalies. Eye anomalies in this disorder consist of a wide and sometimes excavated dysplastic optic disk with the emergence of the retinal vessels from the periphery of the disk, designated optic nerve coloboma or 'morning glory' anomaly. Associated findings may include a small corneal diameter, retinal coloboma, scleral staphyloma, optic nerve cyst, microphthalmia, and pigmentary macular dysplasia. The kidneys are small and abnormally formed (renal hypodysplasia), and have fewer than the normal number of glomeruli, which are enlarged (oligomeganephronia). These ocular and renal anomalies result in decreased visual acuity and retinal detachment, as well as hypertension, proteinuria, and renal insufficiency that frequently progresses to end-stage renal disease. {ECO:0000269|PubMed:11168927, ECO:0000269|PubMed:15652857, ECO:0000269|PubMed:19954729, ECO:0000269|PubMed:22213154, ECO:0000269|PubMed:24676634, ECO:0000269|PubMed:9760197}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Focal segmental glomerulosclerosis 7 (FSGS7) [MIM:616002]: A renal pathology defined by the presence of segmental sclerosis in glomeruli and resulting in proteinuria, reduced glomerular filtration rate and progressive decline in renal function. Renal insufficiency often progresses to end-stage renal disease, a highly morbid state requiring either dialysis therapy or kidney transplantation. {ECO:0000269|PubMed:24676634}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Transcription factor that may have a role in kidney cell differentiation (PubMed:24676634). Has a critical role in the development of the urogenital tract, the eyes, and the CNS. {ECO:0000269|PubMed:24676634}.
uniprot
proteins
mass_dalton
44706
uniprot
proteins
pubmed
11168927
uniprot
proteins
pubmed
11180607
uniprot
proteins
pubmed
1378753
uniprot
proteins
pubmed
15164054
uniprot
proteins
pubmed
15652857
uniprot
proteins
pubmed
19690332
uniprot
proteins
pubmed
19954729
uniprot
proteins
pubmed
21380624
uniprot
proteins
pubmed
21575608
uniprot
proteins
pubmed
22213154
uniprot
proteins
pubmed
24676634
uniprot
proteins
pubmed
7819127
uniprot
proteins
pubmed
7981748
uniprot
proteins
pubmed
8661132
uniprot
proteins
pubmed
9760197
uniprot
proteins
sequence_length
417
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Nucleus.
uniprot
proteins