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Q02962

- PAX2_HUMAN

UniProt

Q02962 - PAX2_HUMAN

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
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    • History
      Entry version 156 (01 Oct 2014)
      Sequence version 4 (10 Feb 2009)
      Previous versions | rss
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    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. protein binding Source: UniProtKB
    4. superoxide-generating NADPH oxidase activity Source: UniProtKB
    5. 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. oxidation-reduction process Source: GOC
    47. pancreas development Source: Ensembl
    48. paramesonephric duct development Source: Ensembl
    49. positive regulation of branching involved in ureteric bud morphogenesis Source: UniProtKB
    50. positive regulation of epithelial cell proliferation Source: UniProtKB
    51. positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis Source: UniProtKB
    52. positive regulation of metanephric DCT cell differentiation Source: UniProtKB
    53. positive regulation of metanephric glomerulus development Source: UniProtKB
    54. positive regulation of optic nerve formation Source: UniProtKB
    55. positive regulation of transcription, DNA-templated Source: UniProtKB
    56. positive regulation of transcription from RNA polymerase II promoter Source: UniProtKB
    57. pronephric field specification Source: UniProtKB
    58. pronephros development Source: UniProtKB
    59. protein kinase B signaling Source: UniProtKB
    60. reactive oxygen species metabolic process Source: UniProtKB
    61. regulation of metanephric nephron tubule epithelial cell differentiation Source: UniProtKB
    62. regulation of metanephros size Source: UniProtKB
    63. response to nutrient levels Source: Ensembl
    64. retinal pigment epithelium development Source: UniProtKB
    65. stem cell differentiation Source: UniProtKB
    66. transcription, DNA-templated Source: UniProtKB
    67. transcription from RNA polymerase II promoter Source: ProtInc
    68. ureter development Source: UniProtKB
    69. ureter maturation Source: UniProtKB
    70. ureter morphogenesis Source: Ensembl
    71. urogenital system development Source: UniProtKB
    72. vestibulocochlear nerve formation Source: UniProtKB
    73. visual perception Source: ProtInc

    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

    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.
    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.
    Orphaneti1475. 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

    ArrayExpressiQ02962.
    BgeeiQ02962.
    CleanExiHS_PAX2.
    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, 252-309.
    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.
    HOGENOMiHOG000230938.
    HOVERGENiHBG009115.
    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

    MDMHCKADPF SAMHPGHGGV NQLGGVFVNG RPLPDVVRQR IVELAHQGVR    50
    PCDISRQLRV SHGCVSKILG RYYETGSIKP GVIGGSKPKV ATPKVVDKIA 100
    EYKRQNPTMF AWEIRDRLLA EGICDNDTVP SVSSINRIIR TKVQQPFHPT 150
    PDGAGTGVTA PGHTIVPSTA SPPVSSASND PVGSYSINGI LGIPRSNGEK 200
    RKRDEVEVYT DPAHIRGGGG LHLVWTLRDV SEGSVPNGDS QSGVDSLRKH 250
    LRADTFTQQQ LEALDRVFER PSYPDVFQAS EHIKSEQGNE YSLPALTPGL 300
    DEVKSSLSAS TNPELGSNVS GTQTYPVVTG RDMASTTLPG YPPHVPPTGQ 350
    GSYPTSTLAG MVPGSEFSGN PYSHPQYTAY NEAWRFSNPA LLSSPYYYSA 400
    APRGSAPAAA AAAYDRH 417
    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.
    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:
    EMBL
    GenBank
    DDBJ
    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]
    ENST00000361791; ENSP00000355069; ENSG00000075891. [Q02962-4]
    ENST00000370296; ENSP00000359319; ENSG00000075891. [Q02962-2]
    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:
    EMBL
    GenBank
    DDBJ
    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, 252-309.
    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 ]
    ENST00000361791 ; ENSP00000355069 ; ENSG00000075891 . [Q02962-4 ]
    ENST00000370296 ; ENSP00000359319 ; ENSG00000075891 . [Q02962-2 ]
    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 1475. Renal coloboma syndrome.
    PharmGKBi PA32956.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG326044.
    HOGENOMi HOG000230938.
    HOVERGENi HBG009115.
    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

    ArrayExpressi Q02962.
    Bgeei Q02962.
    CleanExi HS_PAX2.
    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

    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: October 1, 2014
    This is version 156 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