KEGG   Homo sapiens (human): 5076
Entry
5076              CDS       T01001                                 
Symbol
PAX2, FSGS7, PAPRS, PAX-2
Name
(RefSeq) paired box 2
  KO
K15608  paired box protein 2
Organism
hsa  Homo sapiens (human)
Disease
H00626  Focal segmental glomerulosclerosis
H01026  Renal coloboma syndrome
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09180 Brite Hierarchies
  09182 Protein families: genetic information processing
   03000 Transcription factors [BR:hsa03000]
    5076 (PAX2)
   04131 Membrane trafficking [BR:hsa04131]
    5076 (PAX2)
   03036 Chromosome and associated proteins [BR:hsa03036]
    5076 (PAX2)
Transcription factors [BR:hsa03000]
 Eukaryotic type
  Helix-turn-helix
   Homeo domain Paired-related
    5076 (PAX2)
Membrane trafficking [BR:hsa04131]
 Autophagy
  Chaperone mediated autophagy (CMA)
   Selective cargos
    5076 (PAX2)
Chromosome and associated proteins [BR:hsa03036]
 Eukaryotic type
  Centrosome formation proteins
   Other centrosome associated proteins
    5076 (PAX2)
SSDB
Motif
Pfam: PAX Pax2_C HTH_23 HTH_32 Homeodomain DUF6115 HTH_Tnp_IS1
Other DBs
NCBI-GeneID: 5076
NCBI-ProteinID: NP_003978
OMIM: 167409
HGNC: 8616
Ensembl: ENSG00000075891
UniProt: Q02962
LinkDB
Position
10:100735396..100829944
AA seq 417 aa
MDMHCKADPFSAMHPGHGGVNQLGGVFVNGRPLPDVVRQRIVELAHQGVRPCDISRQLRV
SHGCVSKILGRYYETGSIKPGVIGGSKPKVATPKVVDKIAEYKRQNPTMFAWEIRDRLLA
EGICDNDTVPSVSSINRIIRTKVQQPFHPTPDGAGTGVTAPGHTIVPSTASPPVSSASND
PVGSYSINGILGIPRSNGEKRKRDEVEVYTDPAHIRGGGGLHLVWTLRDVSEGSVPNGDS
QSGVDSLRKHLRADTFTQQQLEALDRVFERPSYPDVFQASEHIKSEQGNEYSLPALTPGL
DEVKSSLSASTNPELGSNVSGTQTYPVVTGRDMASTTLPGYPPHVPPTGQGSYPTSTLAG
MVPGSEFSGNPYSHPQYTAYNEAWRFSNPALLSSPYYYSAAPRGSAPAAAAAAYDRH
NT seq 1254 nt   +upstreamnt  +downstreamnt
atggatatgcactgcaaagcagaccccttctccgcgatgcacccagggcacgggggtgtg
aaccagctcgggggggtgtttgtgaacggccggcccctacccgacgtggtgaggcagcgc
atcgtggagctggcccaccagggtgtgcggccctgtgacatctcccggcagctgcgggtc
agccacggctgtgtcagcaaaatcctgggcaggtactacgagaccggcagcatcaagccg
ggtgtgatcggtggctccaagcccaaagtggcgacgcccaaagtggtggacaagattgct
gaatacaaacgacagaacccgactatgttcgcctgggagattcgagaccggctcctggcc
gagggcatctgtgacaatgacacagtgcccagcgtctcttccatcaacagaatcatccgg
accaaagttcagcagcctttccacccaacgccggatggggctgggacaggagtgaccgcc
cctggccacaccattgttcccagcacggcctcccctcctgtttccagcgcctccaatgac
ccagtgggatcctactccatcaatgggatcctggggattcctcgctccaatggtgagaag
aggaaacgtgatgaagttgaggtatacactgatcctgcccacattagaggaggtggaggt
ttgcatctggtctggactttaagagatgtgtctgagggctcagtccccaatggagattcc
cagagtggtgtggacagtttgcggaagcacttgcgagctgacaccttcacccagcagcag
ctggaagctttggatcgggtctttgagcgtccttcctaccctgacgtcttccaggcatca
gagcacatcaaatcagaacaggggaacgagtactccctcccagccctgacccctgggctt
gatgaagtcaagtcgagtctatctgcatccaccaaccctgagctgggcagcaacgtgtca
ggcacacagacatacccagttgtgactggtcgtgacatggcgagcaccactctgcctggt
tacccccctcacgtgccccccactggccagggaagctaccccacctccaccctggcagga
atggtgcctgggagcgagttctccggcaacccgtacagccacccccagtacacggcctac
aacgaggcttggagattcagcaaccccgccttactaagttccccttattattatagtgcc
gccccccggggctccgcccctgccgctgctgccgctgcctatgaccgccactag

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