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Q02962

- PAX2_HUMAN

UniProt

Q02962 - PAX2_HUMAN

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Protein

Paired box protein Pax-2

Gene

PAX2

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli

Functioni

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.

GO - Molecular functioni

  1. core promoter proximal region sequence-specific DNA binding Source: UniProtKB
  2. DNA binding Source: UniProtKB
  3. RNA polymerase II core promoter proximal region sequence-specific DNA binding Source: Ensembl
  4. RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity Source: Ensembl
  5. superoxide-generating NADPH oxidase activity Source: UniProtKB
  6. transcription regulatory region DNA binding Source: UniProtKB

GO - Biological processi

  1. aging Source: Ensembl
  2. axonogenesis Source: ProtInc
  3. brain morphogenesis Source: UniProtKB
  4. branching involved in ureteric bud morphogenesis Source: UniProtKB
  5. camera-type eye development Source: UniProtKB
  6. cell fate determination Source: UniProtKB
  7. cellular response to epidermal growth factor stimulus Source: Ensembl
  8. cellular response to glucose stimulus Source: UniProtKB
  9. cellular response to hydrogen peroxide Source: UniProtKB
  10. cellular response to mechanical stimulus Source: Ensembl
  11. cellular response to retinoic acid Source: UniProtKB
  12. cochlea development Source: UniProtKB
  13. cochlea morphogenesis Source: UniProtKB
  14. glial cell differentiation Source: UniProtKB
  15. inner ear morphogenesis Source: UniProtKB
  16. mesenchymal to epithelial transition Source: UniProtKB
  17. mesenchymal to epithelial transition involved in metanephros morphogenesis Source: UniProtKB
  18. mesodermal cell fate specification Source: UniProtKB
  19. mesonephric duct development Source: Ensembl
  20. mesonephric tubule formation Source: Ensembl
  21. mesonephros development Source: UniProtKB
  22. metanephric collecting duct development Source: UniProtKB
  23. metanephric distal convoluted tubule development Source: UniProtKB
  24. metanephric epithelium development Source: UniProtKB
  25. metanephric mesenchymal cell differentiation Source: UniProtKB
  26. metanephric mesenchyme development Source: UniProtKB
  27. metanephric nephron tubule formation Source: UniProtKB
  28. negative regulation of apoptotic process Source: UniProtKB
  29. negative regulation of apoptotic process involved in metanephric collecting duct development Source: UniProtKB
  30. negative regulation of apoptotic process involved in metanephric nephron tubule development Source: UniProtKB
  31. negative regulation of cysteine-type endopeptidase activity involved in apoptotic process Source: UniProtKB
  32. negative regulation of cytolysis Source: UniProtKB
  33. negative regulation of mesenchymal cell apoptotic process involved in metanephric nephron morphogenesis Source: UniProtKB
  34. negative regulation of mesenchymal cell apoptotic process involved in metanephros development Source: UniProtKB
  35. negative regulation of programmed cell death Source: UniProtKB
  36. negative regulation of reactive oxygen species metabolic process Source: UniProtKB
  37. negative regulation of transcription, DNA-templated Source: UniProtKB
  38. negative regulation of transcription from RNA polymerase II promoter Source: Ensembl
  39. nephric duct formation Source: UniProtKB
  40. neural tube closure Source: UniProtKB
  41. optic chiasma development Source: UniProtKB
  42. optic cup morphogenesis involved in camera-type eye development Source: UniProtKB
  43. optic nerve development Source: UniProtKB
  44. optic nerve morphogenesis Source: UniProtKB
  45. optic nerve structural organization Source: UniProtKB
  46. pancreas development Source: Ensembl
  47. paramesonephric duct development Source: Ensembl
  48. positive regulation of branching involved in ureteric bud morphogenesis Source: UniProtKB
  49. positive regulation of epithelial cell proliferation Source: UniProtKB
  50. positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis Source: UniProtKB
  51. positive regulation of metanephric DCT cell differentiation Source: UniProtKB
  52. positive regulation of metanephric glomerulus development Source: UniProtKB
  53. positive regulation of optic nerve formation Source: UniProtKB
  54. positive regulation of transcription, DNA-templated Source: UniProtKB
  55. positive regulation of transcription from RNA polymerase II promoter Source: UniProtKB
  56. pronephric field specification Source: UniProtKB
  57. pronephros development Source: UniProtKB
  58. protein kinase B signaling Source: UniProtKB
  59. reactive oxygen species metabolic process Source: UniProtKB
  60. regulation of metanephric nephron tubule epithelial cell differentiation Source: UniProtKB
  61. regulation of metanephros size Source: UniProtKB
  62. response to nutrient levels Source: Ensembl
  63. retinal pigment epithelium development Source: UniProtKB
  64. stem cell differentiation Source: UniProtKB
  65. transcription, DNA-templated Source: UniProtKB
  66. transcription from RNA polymerase II promoter Source: ProtInc
  67. ureter development Source: UniProtKB
  68. ureter maturation Source: UniProtKB
  69. ureter morphogenesis Source: Ensembl
  70. urogenital system development Source: UniProtKB
  71. vestibulocochlear nerve formation Source: UniProtKB
  72. visual perception Source: ProtInc
Complete GO annotation...

Keywords - Molecular functioni

Developmental protein

Keywords - Biological processi

Differentiation, Transcription, Transcription regulation

Keywords - Ligandi

DNA-binding

Enzyme and pathway databases

SignaLinkiQ02962.

Names & Taxonomyi

Protein namesi
Recommended name:
Paired box protein Pax-2
Gene namesi
Name:PAX2
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 10

Organism-specific databases

HGNCiHGNC:8616. PAX2.

Subcellular locationi

GO - Cellular componenti

  1. centriolar satellite Source: BHF-UCL
  2. lysosome Source: Ensembl
  3. microtubule organizing center Source: BHF-UCL
  4. nucleus Source: UniProtKB
  5. protein complex Source: UniProtKB
  6. protein-DNA complex Source: UniProtKB
Complete GO annotation...

Keywords - Cellular componenti

Nucleus

Pathology & Biotechi

Involvement in diseasei

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.4 Publications
Note: The disease is caused by mutations affecting the gene represented in this entry.
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti25 – 251G → V in PAPRS. 1 Publication
VAR_068080
Natural varianti33 – 331L → R in PAPRS. 1 Publication
VAR_068081
Natural varianti61 – 611S → I in PAPRS. 1 Publication
VAR_068082
Natural varianti61 – 611S → N in PAPRS. 1 Publication
VAR_068083
Natural varianti62 – 665Missing in PAPRS. 1 Publication
VAR_068084
Natural varianti69 – 691L → P in PAPRS. 1 Publication
VAR_068085
Natural varianti71 – 711R → T in PAPRS. 1 Publication
VAR_068086
Natural varianti75 – 751T → TET in PAPRS.
VAR_003788
Natural varianti75 – 751T → TT in PAPRS. 1 Publication
VAR_068087
Natural varianti76 – 761G → S in PAPRS. 1 Publication
VAR_003789
Natural varianti84 – 841G → GSIKPGVIG in PAPRS. 1 Publication
VAR_068088
Natural varianti84 – 841G → S in PAPRS. 1 Publication
VAR_068089
Natural varianti117 – 1171R → P in PAPRS. 1 Publication
VAR_068090
Natural varianti130 – 1301P → H in PAPRS. 1 Publication
VAR_068091
Natural varianti130 – 1301P → S in PAPRS. 1 Publication
VAR_068092
Defects in PAX2 can be responsible for isolated renal hypodysplasia and oligomeganephronia (OMN). This is a rare congenital and usually sporadic anomaly characterized by bilateral renal hypoplasia, with a reduced number of enlarged nephrons and without urinary tract abnormalities.

Keywords - Diseasei

Disease mutation

Organism-specific databases

MIMi120330. phenotype.
Orphaneti97362. Bilateral renal hypoplasia.
1475. Renal coloboma syndrome.
PharmGKBiPA32956.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 417417Paired box protein Pax-2PRO_0000050175Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Modified residuei226 – 2261Phosphothreonine1 Publication

Keywords - PTMi

Phosphoprotein

Proteomic databases

PaxDbiQ02962.
PRIDEiQ02962.

PTM databases

PhosphoSiteiQ02962.

Expressioni

Tissue specificityi

Expressed in primitive cells of the kidney, ureter, eye, ear and central nervous system.

Developmental stagei

Mainly in fetal kidney and juvenile nephrogenic rests.

Gene expression databases

BgeeiQ02962.
CleanExiHS_PAX2.
ExpressionAtlasiQ02962. baseline and differential.
GenevestigatoriQ02962.

Organism-specific databases

HPAiCAB013024.
HPA047704.

Interactioni

Subunit structurei

Interacts with ELGN3; the interaction targets PAX2 for destruction.1 Publication

Protein-protein interaction databases

BioGridi111110. 9 interactions.
IntActiQ02962. 4 interactions.
STRINGi9606.ENSP00000355069.

Structurei

3D structure databases

ProteinModelPortaliQ02962.
SMRiQ02962. Positions 19-142.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini16 – 142127PairedPROSITE-ProRule annotationAdd
BLAST

Sequence similaritiesi

Contains 1 paired domain.PROSITE-ProRule annotation

Keywords - Domaini

Paired box

Phylogenomic databases

eggNOGiNOG326044.
GeneTreeiENSGT00680000099553.
HOGENOMiHOG000230938.
HOVERGENiHBG009115.
InParanoidiQ02962.
KOiK15608.
OMAiDSHPSYP.
PhylomeDBiQ02962.
TreeFamiTF315397.

Family and domain databases

Gene3Di1.10.10.10. 2 hits.
InterProiIPR009057. Homeodomain-like.
IPR001523. Paired_dom.
IPR022130. Pax2_C.
IPR011991. WHTH_DNA-bd_dom.
[Graphical view]
PfamiPF00292. PAX. 1 hit.
PF12403. Pax2_C. 1 hit.
[Graphical view]
PRINTSiPR00027. PAIREDBOX.
SMARTiSM00351. PAX. 1 hit.
[Graphical view]
SUPFAMiSSF46689. SSF46689. 1 hit.
PROSITEiPS00034. PAIRED_1. 1 hit.
PS51057. PAIRED_2. 1 hit.
[Graphical view]

Sequences (4)i

Sequence statusi: Complete.

This entry describes 4 isoformsi produced by alternative splicing. Align

Isoform 1 (identifier: Q02962-1) [UniParc]FASTAAdd to Basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        10         20         30         40         50
MDMHCKADPF SAMHPGHGGV NQLGGVFVNG RPLPDVVRQR IVELAHQGVR
60 70 80 90 100
PCDISRQLRV SHGCVSKILG RYYETGSIKP GVIGGSKPKV ATPKVVDKIA
110 120 130 140 150
EYKRQNPTMF AWEIRDRLLA EGICDNDTVP SVSSINRIIR TKVQQPFHPT
160 170 180 190 200
PDGAGTGVTA PGHTIVPSTA SPPVSSASND PVGSYSINGI LGIPRSNGEK
210 220 230 240 250
RKRDEVEVYT DPAHIRGGGG LHLVWTLRDV SEGSVPNGDS QSGVDSLRKH
260 270 280 290 300
LRADTFTQQQ LEALDRVFER PSYPDVFQAS EHIKSEQGNE YSLPALTPGL
310 320 330 340 350
DEVKSSLSAS TNPELGSNVS GTQTYPVVTG RDMASTTLPG YPPHVPPTGQ
360 370 380 390 400
GSYPTSTLAG MVPGSEFSGN PYSHPQYTAY NEAWRFSNPA LLSSPYYYSA
410
APRGSAPAAA AAAYDRH
Length:417
Mass (Da):44,706
Last modified:February 10, 2009 - v4
Checksum:i7EA24F9EB8C843F8
GO
Isoform 2 (identifier: Q02962-2) [UniParc]FASTAAdd to Basket

Also known as: Fetal kidney

The sequence of this isoform differs from the canonical sequence as follows:
     364-417: GSEFSGNPYS...AAAAAAYDRH → EAAVGPSSSL...RLGDSATPPY

Show »
Length:419
Mass (Da):44,485
Checksum:i0FE028784294B10E
GO
Isoform 3 (identifier: Q02962-3) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     206-228: Missing.

Show »
Length:394
Mass (Da):42,177
Checksum:iB0CF2E31D3D09900
GO
Isoform 4 (identifier: Q02962-4) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     206-228: Missing.
     364-417: GSEFSGNPYS...AAAAAAYDRH → EAAVGPSSSL...RLGDSATPPY

Show »
Length:396
Mass (Da):41,956
Checksum:iAE946615233BDA16
GO

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti15 – 162PG → R in AAC41711. (PubMed:7981748)Curated
Sequence conflicti404 – 4041Missing in AAA60024. (PubMed:1378753)Curated
Sequence conflicti404 – 4041Missing in AAC63385. (PubMed:8661132)Curated
Sequence conflicti410 – 4101A → R in AAA60024. (PubMed:1378753)Curated
Sequence conflicti410 – 4101A → R in AAC63385. (PubMed:8661132)Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti24 – 241G → E Probable disease-associated mutation found in a patient with renal hypodysplasia. 1 Publication
VAR_068079
Natural varianti25 – 251G → V in PAPRS. 1 Publication
VAR_068080
Natural varianti33 – 331L → R in PAPRS. 1 Publication
VAR_068081
Natural varianti39 – 402Missing in OMN; with bilateral coloboma. 1 Publication
VAR_012442
Natural varianti61 – 611S → I in PAPRS. 1 Publication
VAR_068082
Natural varianti61 – 611S → N in PAPRS. 1 Publication
VAR_068083
Natural varianti62 – 665Missing in PAPRS. 1 Publication
VAR_068084
Natural varianti69 – 691L → P in PAPRS. 1 Publication
VAR_068085
Natural varianti71 – 711R → T in PAPRS. 1 Publication
VAR_068086
Natural varianti75 – 751T → TET in PAPRS.
VAR_003788
Natural varianti75 – 751T → TT in PAPRS. 1 Publication
VAR_068087
Natural varianti76 – 761G → S in PAPRS. 1 Publication
VAR_003789
Natural varianti84 – 841G → GSIKPGVIG in PAPRS. 1 Publication
VAR_068088
Natural varianti84 – 841G → S in PAPRS. 1 Publication
VAR_068089
Natural varianti117 – 1171R → P in PAPRS. 1 Publication
VAR_068090
Natural varianti130 – 1301P → H in PAPRS. 1 Publication
VAR_068091
Natural varianti130 – 1301P → S in PAPRS. 1 Publication
VAR_068092
Natural varianti160 – 1601A → T.1 Publication
Corresponds to variant rs201383632 [ dbSNP | Ensembl ].
VAR_068093
Natural varianti164 – 1641T → N.1 Publication
VAR_068094
Natural varianti175 – 1751S → T.1 Publication
VAR_068095
Natural varianti334 – 3341A → V.2 Publications
Corresponds to variant rs78738655 [ dbSNP | Ensembl ].
VAR_012443
Natural varianti387 – 3871S → N Found in a patient with bilateral optic nerve colobomas; uncertain pathological significance. 1 Publication
VAR_068096

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei206 – 22823Missing in isoform 3 and isoform 4. 2 PublicationsVSP_002345Add
BLAST
Alternative sequencei364 – 41754GSEFS…AYDRH → EAAVGPSSSLMSKPGRKLAE VPPCVQPTGASSPATRTATP STRPTTRLGDSATPPY in isoform 2 and isoform 4. 1 PublicationVSP_002346Add
BLAST

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
M89470 mRNA. Translation: AAA60024.1.
L25597 mRNA. Translation: AAA36417.1.
U45255
, U45245, U45246, U45247, U45248, U45249, U45250, U45251, U45253, U45254 Genomic DNA. Translation: AAC63385.1.
AL138762, AL589862 Genomic DNA. Translation: CAH70951.1.
AL138762, AL589862 Genomic DNA. Translation: CAH70952.1.
AL589862, AL138762 Genomic DNA. Translation: CAI17855.1.
AL589862, AL138762 Genomic DNA. Translation: CAI17856.1.
CH471066 Genomic DNA. Translation: EAW49812.1.
CH471066 Genomic DNA. Translation: EAW49813.1.
L09747, L09748, L09746 Genomic DNA. Translation: AAC41711.1.
CCDSiCCDS7499.1. [Q02962-4]
PIRiA49008.
RefSeqiNP_000269.2. NM_000278.3.
NP_003978.2. NM_003987.3.
NP_003979.2. NM_003988.3. [Q02962-4]
NP_003980.2. NM_003989.3.
NP_003981.2. NM_003990.3.
UniGeneiHs.155644.

Genome annotation databases

EnsembliENST00000355243; ENSP00000347385; ENSG00000075891. [Q02962-3]
ENST00000370296; ENSP00000359319; ENSG00000075891. [Q02962-4]
ENST00000428433; ENSP00000396259; ENSG00000075891. [Q02962-1]
GeneIDi5076.
KEGGihsa:5076.
UCSCiuc001krk.4. human. [Q02962-1]
uc001krl.4. human. [Q02962-4]
uc001krm.4. human. [Q02962-2]
uc001krn.4. human. [Q02962-3]

Polymorphism databases

DMDMi223590261.

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Web resourcesi

PAX2 mutation db
Atlas of Genetics and Cytogenetics in Oncology and Haematology
PAX2 variant database paired box 2 (PAX2)

Leiden Open Variation Database (LOVD)

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
M89470 mRNA. Translation: AAA60024.1 .
L25597 mRNA. Translation: AAA36417.1 .
U45255
, U45245 , U45246 , U45247 , U45248 , U45249 , U45250 , U45251 , U45253 , U45254 Genomic DNA. Translation: AAC63385.1 .
AL138762 , AL589862 Genomic DNA. Translation: CAH70951.1 .
AL138762 , AL589862 Genomic DNA. Translation: CAH70952.1 .
AL589862 , AL138762 Genomic DNA. Translation: CAI17855.1 .
AL589862 , AL138762 Genomic DNA. Translation: CAI17856.1 .
CH471066 Genomic DNA. Translation: EAW49812.1 .
CH471066 Genomic DNA. Translation: EAW49813.1 .
L09747 , L09748 , L09746 Genomic DNA. Translation: AAC41711.1 .
CCDSi CCDS7499.1. [Q02962-4 ]
PIRi A49008.
RefSeqi NP_000269.2. NM_000278.3.
NP_003978.2. NM_003987.3.
NP_003979.2. NM_003988.3. [Q02962-4 ]
NP_003980.2. NM_003989.3.
NP_003981.2. NM_003990.3.
UniGenei Hs.155644.

3D structure databases

ProteinModelPortali Q02962.
SMRi Q02962. Positions 19-142.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 111110. 9 interactions.
IntActi Q02962. 4 interactions.
STRINGi 9606.ENSP00000355069.

PTM databases

PhosphoSitei Q02962.

Polymorphism databases

DMDMi 223590261.

Proteomic databases

PaxDbi Q02962.
PRIDEi Q02962.

Protocols and materials databases

DNASUi 5076.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000355243 ; ENSP00000347385 ; ENSG00000075891 . [Q02962-3 ]
ENST00000370296 ; ENSP00000359319 ; ENSG00000075891 . [Q02962-4 ]
ENST00000428433 ; ENSP00000396259 ; ENSG00000075891 . [Q02962-1 ]
GeneIDi 5076.
KEGGi hsa:5076.
UCSCi uc001krk.4. human. [Q02962-1 ]
uc001krl.4. human. [Q02962-4 ]
uc001krm.4. human. [Q02962-2 ]
uc001krn.4. human. [Q02962-3 ]

Organism-specific databases

CTDi 5076.
GeneCardsi GC10P102495.
GeneReviewsi PAX2.
HGNCi HGNC:8616. PAX2.
HPAi CAB013024.
HPA047704.
MIMi 120330. phenotype.
167409. gene.
neXtProti NX_Q02962.
Orphaneti 97362. Bilateral renal hypoplasia.
1475. Renal coloboma syndrome.
PharmGKBi PA32956.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG326044.
GeneTreei ENSGT00680000099553.
HOGENOMi HOG000230938.
HOVERGENi HBG009115.
InParanoidi Q02962.
KOi K15608.
OMAi DSHPSYP.
PhylomeDBi Q02962.
TreeFami TF315397.

Enzyme and pathway databases

SignaLinki Q02962.

Miscellaneous databases

GeneWikii PAX2.
GenomeRNAii 5076.
NextBioi 19560.
PROi Q02962.
SOURCEi Search...

Gene expression databases

Bgeei Q02962.
CleanExi HS_PAX2.
ExpressionAtlasi Q02962. baseline and differential.
Genevestigatori Q02962.

Family and domain databases

Gene3Di 1.10.10.10. 2 hits.
InterProi IPR009057. Homeodomain-like.
IPR001523. Paired_dom.
IPR022130. Pax2_C.
IPR011991. WHTH_DNA-bd_dom.
[Graphical view ]
Pfami PF00292. PAX. 1 hit.
PF12403. Pax2_C. 1 hit.
[Graphical view ]
PRINTSi PR00027. PAIREDBOX.
SMARTi SM00351. PAX. 1 hit.
[Graphical view ]
SUPFAMi SSF46689. SSF46689. 1 hit.
PROSITEi PS00034. PAIRED_1. 1 hit.
PS51057. PAIRED_2. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. "Expression of the PAX2 gene in human fetal kidney and Wilms' tumor."
    Eccles M.R., Wallis L.J., Fidler A.E., Spurr N.K., Goodfellow P.J., Reeve A.E.
    Cell Growth Differ. 3:279-289(1992) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 3).
    Tissue: Kidney.
  2. "Alternative messenger RNA forms and open reading frames within an additional conserved region of the human PAX-2 gene."
    Ward T.A., Nebel A., Reeve A.E., Eccles M.R.
    Cell Growth Differ. 5:1015-1021(1994) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 4).
    Tissue: Kidney cortex.
  3. Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], ALTERNATIVE SPLICING (ISOFORM 1).
  4. "The DNA sequence and comparative analysis of human chromosome 10."
    Deloukas P., Earthrowl M.E., Grafham D.V., Rubenfield M., French L., Steward C.A., Sims S.K., Jones M.C., Searle S., Scott C., Howe K., Hunt S.E., Andrews T.D., Gilbert J.G.R., Swarbreck D., Ashurst J.L., Taylor A., Battles J.
    , Bird C.P., Ainscough R., Almeida J.P., Ashwell R.I.S., Ambrose K.D., Babbage A.K., Bagguley C.L., Bailey J., Banerjee R., Bates K., Beasley H., Bray-Allen S., Brown A.J., Brown J.Y., Burford D.C., Burrill W., Burton J., Cahill P., Camire D., Carter N.P., Chapman J.C., Clark S.Y., Clarke G., Clee C.M., Clegg S., Corby N., Coulson A., Dhami P., Dutta I., Dunn M., Faulkner L., Frankish A., Frankland J.A., Garner P., Garnett J., Gribble S., Griffiths C., Grocock R., Gustafson E., Hammond S., Harley J.L., Hart E., Heath P.D., Ho T.P., Hopkins B., Horne J., Howden P.J., Huckle E., Hynds C., Johnson C., Johnson D., Kana A., Kay M., Kimberley A.M., Kershaw J.K., Kokkinaki M., Laird G.K., Lawlor S., Lee H.M., Leongamornlert D.A., Laird G., Lloyd C., Lloyd D.M., Loveland J., Lovell J., McLaren S., McLay K.E., McMurray A., Mashreghi-Mohammadi M., Matthews L., Milne S., Nickerson T., Nguyen M., Overton-Larty E., Palmer S.A., Pearce A.V., Peck A.I., Pelan S., Phillimore B., Porter K., Rice C.M., Rogosin A., Ross M.T., Sarafidou T., Sehra H.K., Shownkeen R., Skuce C.D., Smith M., Standring L., Sycamore N., Tester J., Thorpe A., Torcasso W., Tracey A., Tromans A., Tsolas J., Wall M., Walsh J., Wang H., Weinstock K., West A.P., Willey D.L., Whitehead S.L., Wilming L., Wray P.W., Young L., Chen Y., Lovering R.C., Moschonas N.K., Siebert R., Fechtel K., Bentley D., Durbin R.M., Hubbard T., Doucette-Stamm L., Beck S., Smith D.R., Rogers J.
    Nature 429:375-381(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  5. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  6. "Chromosomal localization of seven PAX genes and cloning of a novel family member, PAX-9."
    Stapleton P., Weith A., Urbanek P., Kozmik Z., Busslinger M.
    Nat. Genet. 3:292-298(1993) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 1-136.
  7. "Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions."
    Mayya V., Lundgren D.H., Hwang S.-I., Rezaul K., Wu L., Eng J.K., Rodionov V., Han D.K.
    Sci. Signal. 2:RA46-RA46(2009) [PubMed] [Europe PMC] [Abstract]
    Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT THR-226, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    Tissue: Leukemic T-cell.
  8. "Prolyl hydroxylase domain protein 3 targets Pax2 for destruction."
    Yan B., Jiao S., Zhang H.S., Lv D.D., Xue J., Fan L., Wu G.H., Fang J.
    Biochem. Biophys. Res. Commun. 409:315-320(2011) [PubMed] [Europe PMC] [Abstract]
    Cited for: INTERACTION WITH EGLN3.
  9. "HNF1B and PAX2 mutations are a common cause of renal hypodysplasia in the CKiD cohort."
    Thomas R., Sanna-Cherchi S., Warady B.A., Furth S.L., Kaskel F.J., Gharavi A.G.
    Pediatr. Nephrol. 26:897-903(2011) [PubMed] [Europe PMC] [Abstract]
    Cited for: INVOLVEMENT IN RENAL HYPODYSPLASIA, VARIANT GLU-24.
  10. "Missense mutation and hexanucleotide duplication in the PAX2 gene in two unrelated families with renal-coloboma syndrome (MIM 120330)."
    Devriendt K., Matthijs G., van Damme B., van Caesbroeck D., Eccles M.R., Vanrenterghem Y., Fryns J.-P., Leys A.
    Hum. Genet. 103:149-153(1998) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS PAPRS GLU-THR-75 INS AND SER-76.
  11. "Identification of two novel polymorphisms (g.903C>T and g.1544C>T) in the PAX2 gene."
    Gelb A.C., Manligas G.S., Gharaybeh S., Schimmenti L.A.
    Hum. Mutat. 17:155-155(2001) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT VAL-334.
  12. Cited for: VARIANT OMN 39-GLN-ARG-40 DEL.
  13. "Macular abnormalities and optic disk anomaly associated with a new PAX2 missense mutation."
    Higashide T., Wada T., Sakurai M., Yokoyama H., Sugiyama K.
    Am. J. Ophthalmol. 139:203-205(2005) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT PAPRS THR-71.
  14. "A case of renal-coloboma syndrome associated with mental developmental delay exhibiting a novel PAX2 gene mutation."
    Miyazawa T., Nakano M., Takemura Y., Miyazaki K., Yanagida H., Fujita S., Sugimoto K., Okada M., Takemura T.
    Clin. Nephrol. 72:497-500(2009) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT PAPRS HIS-130.
  15. Cited for: VARIANTS PAPRS VAL-25; ARG-33; ILE-61; ASN-61; 62-HIS--SER-66 DEL; PRO-69; THR-75 INS; SER-84; SER-ILE-LYS-PRO-GLY-VAL-ILE-GLY-84 INS; PRO-117 AND SER-130, VARIANTS THR-160; ASN-164; THR-175; VAL-334 AND ASN-387.

Entry informationi

Entry nameiPAX2_HUMAN
AccessioniPrimary (citable) accession number: Q02962
Secondary accession number(s): Q15105
, Q15110, Q15837, Q5SZP2, Q5SZP3
Entry historyi
Integrated into UniProtKB/Swiss-Prot: July 1, 1993
Last sequence update: February 10, 2009
Last modified: November 26, 2014
This is version 158 of the entry and version 4 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 10
    Human chromosome 10: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3