Q02962 (PAX2_HUMAN) Reviewed, UniProtKB/Swiss-Prot
Last modified
January 25, 2012.
Version 128.
History...
Names·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Web links·Cross-refs·Entry info·DocumentsCustomize order
Names·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Web links·Cross-refs·Entry info·DocumentsCustomize orderNames and origin
| Protein names | Recommended name: Paired box protein Pax-2 | ||
| Gene names |
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| Organism | Homo sapiens (Human) | ||
| Taxonomic identifier | 9606 [NCBI] | ||
| Taxonomic lineage | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Protein attributes
| Sequence length | 417 AA. |
| Sequence status | Complete. |
| Protein existence | Evidence at protein level |
General annotation (Comments)
| 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. |
| Subunit structure | Interacts with ELGN3; the interaction targets PAX2 for destruction. Ref.8 |
| Subcellular location | |
| 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. |
| Involvement in 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. Ref.9 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. |
| Sequence similarities | Contains 1 paired domain. |
Ontologies
Alternative products
| This entry describes 4 isoforms produced by alternative splicing. [Align] [Select] | ||||||
| Isoform 1 (identifier: Q02962-1) 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. | ||||||
| Isoform 2 (identifier: Q02962-2) Also known as: Fetal kidney; The sequence of this isoform differs from the canonical sequence as follows: 364-417: GSEFSGNPYS...AAAAAAYDRH → EAAVGPSSSL...RLGDSATPPY | ||||||
| Isoform 3 (identifier: Q02962-3) The sequence of this isoform differs from the canonical sequence as follows: 206-228: Missing. | ||||||
| Isoform 4 (identifier: Q02962-4) The sequence of this isoform differs from the canonical sequence as follows: 206-228: Missing. 364-417: GSEFSGNPYS...AAAAAAYDRH → EAAVGPSSSL...RLGDSATPPY |
Sequence annotation (Features)
| Feature key | Position(s) | Length | Description | Graphical view | Feature identifier | ||||
Molecule processing | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Chain | 1 – 417 | 417 | Paired box protein Pax-2 | PRO_0000050175 | |||||
Regions | |||||||||
| Domain | 16 – 142 | 127 | Paired | ||||||
Amino acid modifications | |||||||||
| Modified residue | 226 | 1 | Phosphothreonine Ref.7 | ||||||
Natural variations | |||||||||
| Alternative sequence | 206 – 228 | 23 | Missing in isoform 3 and isoform 4. | VSP_002345 | |||||
| Alternative sequence | 364 – 417 | 54 | GSEFS…AYDRH → EAAVGPSSSLMSKPGRKLAE VPPCVQPTGASSPATRTATP STRPTTRLGDSATPPY in isoform 2 and isoform 4. | VSP_002346 | |||||
| Natural variant | 39 – 40 | 2 | Missing in OMN; with bilateral coloboma. | VAR_012442 | |||||
| Natural variant | 75 | 1 | T → TET in RCS. | VAR_003788 | |||||
| Natural variant | 76 | 1 | G → S in RCS. Ref.9 | VAR_003789 | |||||
| Natural variant | 334 | 1 | A → V. Ref.10 | VAR_012443 | |||||
Experimental info | |||||||||
| Sequence conflict | 15 – 16 | 2 | PG → R in AAC41711. Ref.6 | ||||||
| Sequence conflict | 404 | 1 | Missing in AAA60024. Ref.1 | ||||||
| Sequence conflict | 404 | 1 | Missing in AAC63385. Ref.3 | ||||||
| Sequence conflict | 410 | 1 | A → R in AAA60024. Ref.1 | ||||||
| Sequence conflict | 410 | 1 | A → R in AAC63385. Ref.3 | ||||||
Sequences
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References
| « Hide 'large scale' references | |
| [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: 1378753] [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: 7819127] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 4). Tissue: Kidney cortex. |
| [3] | "Genomic structure of the human PAX2 gene." Sanyanusin P., Norrish J.H., Ward T.A., Nebel A., McNoe L.A., Eccles M.R. Genomics 35:258-261(1996) [PubMed: 8661132] [Abstract] 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. Rogers J.Nature 429:375-381(2004) [PubMed: 15164054] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]. |
| [5] | Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. Venter J.C.Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases 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: 7981748] [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: 19690332] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT THR-226, MASS SPECTROMETRY. 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: 21575608] [Abstract] Cited for: INTERACTION WITH EGLN3. |
| [9] | "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: 9760197] [Abstract] Cited for: VARIANTS RCS GLU-THR-75 INS AND SER-76. |
| [10] | "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: 11180607] [Abstract] Cited for: VARIANT VAL-334. |
| [11] | "PAX2 mutations in oligomeganephronia." Salomon R., Tellier A.-L., Attie-Bitach T., Amiel J., Vekemans M., Lyonnet S., Dureau P., Niaudet P., Gubler M.-C., Broyer M. Kidney Int. 59:457-462(2001) [PubMed: 11168927] [Abstract] Cited for: VARIANT OMN 39-GLN-ARG-40 DEL. |
| + | Additional computationally mapped references. |
Web resources
Cross-references
Sequence databases | |
|---|---|
| EMBL GenBank DDBJ | M89470 mRNA. Translation: AAA60024.1. L25597 mRNA. Translation: AAA36417.1. U45255 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. |
| IPI | IPI00179609. IPI00220545. IPI00375134. IPI00395548. |
| PIR | A49008. |
| RefSeq | NP_000269.2. NM_000278.3. NP_003978.2. NM_003987.3. NP_003979.2. NM_003988.3. NP_003980.2. NM_003989.3. NP_003981.2. NM_003990.3. |
| UniGene | Hs.155644. |
3D structure databases | |
| ProteinModelPortal | Q02962. |
| SMR | Q02962. Positions 19-142, 250-311. |
| ModBase | Search... |
Protein-protein interaction databases | |
| IntAct | Q02962. 4 interactions. |
| STRING | Q02962. |
PTM databases | |
| PhosphoSite | Q02962. |
Polymorphism databases | |
| DMDM | 223590261. |
Proteomic databases | |
| PRIDE | Q02962. |
Protocols and materials databases | |
| StructuralBiologyKnowledgebase | Search... |
Genome annotation databases | |
| Ensembl | ENST00000370294; ENSP00000359317; ENSG00000075891. ENST00000428433; ENSP00000396259; ENSG00000075891. |
| GeneID | 5076. |
| KEGG | hsa:5076. |
| UCSC | uc001krk.2. human. |
Organism-specific databases | |
| CTD | 5076. |
| GeneCards | GC10P102495. |
| HGNC | HGNC:8616. PAX2. |
| HPA | CAB013024. |
| MIM | 120330. phenotype. 167409. gene. |
| neXtProt | NX_Q02962. |
| Orphanet | 2260. Oligomeganephronia. 1475. Papillo-renal syndrome. |
| PharmGKB | PA32956. |
| GenAtlas | Search... |
Phylogenomic databases | |
| eggNOG | prNOG08685. |
| HOVERGEN | HBG009115. |
| OMA | FSAMHRH. |
| OrthoDB | EOG49S66H. |
| PhylomeDB | Q02962. |
Gene expression databases | |
| ArrayExpress | Q02962. |
| Bgee | Q02962. |
| CleanEx | HS_PAX2. |
| Genevestigator | Q02962. |
| GermOnline | ENSG00000075891. Homo sapiens. |
Family and domain databases | |
| InterPro | IPR009057. Homeodomain-like. IPR012287. Homeodomain-rel. IPR001523. Paired_box_N. IPR022130. Pax2_C. IPR011991. WHTH_trsnscrt_rep_DNA-bd. [Graphical view] |
| Gene3D | G3DSA:1.10.10.60. Homeodomain-rel. 1 hit. G3DSA:1.10.10.10. Wing_hlx_DNA_bd. 2 hits. |
| KO | K15608. |
| Pfam | PF00292. PAX. 1 hit. PF12403. Pax2_C. 1 hit. [Graphical view] |
| PRINTS | PR00027. PAIREDBOX. |
| SMART | SM00351. PAX. 1 hit. [Graphical view] |
| SUPFAM | SSF46689. Homeodomain_like. 1 hit. |
| PROSITE | PS00034. PAIRED_1. 1 hit. PS51057. PAIRED_2. 1 hit. [Graphical view] |
| ProtoNet | Search... |
Other | |
| NextBio | 19560. |
| SOURCE | Search... |
Entry information
| Entry name | PAX2_HUMAN | ||||||||
| Accession | Primary (citable) accession number: Q02962 Secondary accession number(s): Q15105 Q5SZP3 | ||||||||
| Entry history |
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| Entry status | Reviewed (UniProtKB/Swiss-Prot) | ||||||||
| Annotation program | Chordata Protein Annotation Program | ||||||||
| Disclaimer | Any 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. | ||||||||
Relevant documents
| Human chromosome 10 Human chromosome 10: entries, gene names and cross-references to MIM |
| Human entries with polymorphisms or disease mutations List of human entries with polymorphisms or disease mutations |
| Human polymorphisms and disease mutations Index of human polymorphisms and disease mutations |
| MIM cross-references Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot |
| SIMILARITY comments Index of protein domains and families |

Clusters with