Reviewed,
UniProtKB/Swiss-Prot Q02962 (PAX2_HUMAN)
Last modified
November 25, 2008.
Version 93.
History...
Clusters with 100%,
90%,
50% identity |
Documents (5) |
Third-party data |
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Names 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 | 416 AA. |
| Sequence status | Complete. |
| Sequence processing | The displayed sequence is not processed. |
| 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. |
| 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. Defects in PAX2 may be responsible for isolated renal hypoplasia as observed in oligomeganephronia (OMN). OMN 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. |
| Sequence similarities | Contains 1 paired domain. |
Ontologies
Keywords | |
|---|---|
| Biological process | Differentiation Transcription Transcription regulation |
| Cellular component | Nucleus |
| Coding sequence diversity | Alternative splicing Polymorphism |
| Disease | Disease mutation |
| Domain | Paired box |
| Ligand | DNA-binding |
| Molecular function | Developmental protein |
Gene Ontology (GO) | |
| Biological process | axonogenesis Traceable author statement. Source: ProtInc visual perceptionTraceable author statement. Source: ProtInc |
| Cellular component | centriolar satellite Inferred from direct assay. Source: UniProtKB nucleusInferred from electronic annotation. Source: UniProtKB-KW |
| Molecular function | DNA binding Traceable author statement. Source: ProtInc |
| Complete GO annotation... | |
Alternative products
| This entry describes 3 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: 364-416: GSEFSGNPYS...AARAAAYDRH → EAAVGPSSSL...RLGDSATPPY | ||||||
| Isoform 3 (identifier: Q02962-3) The sequence of this isoform differs from the canonical sequence as follows: 206-228: Missing. |
Sequence annotation (Features)
| Feature key | Position(s) | Length | Description | Graphical view | Feature identifier | ||||
Molecule processing | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Chain | 1 – 416 | 416 | Paired box protein Pax-2 | PRO_0000050175 | |||||
Regions | |||||||||
| Domain | 16 – 142 | 127 | Paired | ||||||
Natural variations | |||||||||
| Alternative sequence | 206 – 228 | 23 | Missing in isoform 3. | VSP_002345 | |||||
| Alternative sequence | 364 – 416 | 53 | GSEFS…AYDRH → EAAVGPSSSLMSKPGRKLAE VPPCVQPTGASSPATRTATP STRPTTRLGDSATPPY in isoform 2. | 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. | VAR_003789 | |||||
| Natural variant | 334 | 1 | A → V | VAR_012443 | |||||
Experimental info | |||||||||
| Sequence conflict | 15 – 16 | 2 | PG → R in AAC41711. Ref.3 | ||||||
Sequences
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References
| [1] | "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]. |
| [2] | "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]. Tissue: Kidney. |
| [3] | "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. |
| [4] | Ward T.A., Nebel A., Eccles M.R. Submitted (JAN-1994) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE, ALTERNATIVE SPLICING. Tissue: Kidney cortex. |
| [5] | "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. |
| [6] | "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. |
| [7] | "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 | |
|---|---|
U45255 U45254 Genomic DNA. Translation: AAC63385.1. M89470 mRNA. Translation: AAA60024.1. L09747, L09748, L09746 Genomic DNA. Translation: AAC41711.1. L25597 mRNA. Translation: AAA36417.1. | |
| PIR | A49008. |
| RefSeq | NP_000269.2. NP_003978.2. NP_003979.2. NP_003980.2. NP_003981.2. |
| UniGene | Hs.155644 |
3D structure databases | |
| HSSP | HSSP built from PDB template 1K78 based on UniProtKB Q02548. |
| SMR | Q02962. Positions 19-142. |
| ModBase | Search... |
Protein-protein interaction databases | |
| IntAct | Q02962. |
PTM databases | |
| PhosphoSite | Q02962. |
Genome annotation databases | |
| Ensembl | ENSG00000075891. Homo sapiens. [Contig view] |
| GeneID | 5076. |
| KEGG | hsa:5076. |
Organism-specific databases | |
| HGNC | HGNC:8616. PAX2. |
| HPA | CAB013024. |
| MIM | 120330. phenotype. 167409. gene. |
| Orphanet | 1475. Papillo-renal syndrome. |
| PharmGKB | PA32956. |
| GenAtlas | Search... |
| GeneCards | Search... |
Phylogenomic databases | |
| HOGENOM | Q02962. |
| HOVERGEN | Q02962. |
Gene expression databases | |
| ArrayExpress | Q02962. |
| CleanEx | HS_PAX2. |
| GermOnline | ENSG00000075891. Homo sapiens. |
Family and domain databases | |
| InterPro | IPR001523. Paired_box_N. IPR011991. Wing_hlx_DNA_bd. [Graphical view] |
| Gene3D | G3DSA:1.10.10.10. Wing_hlx_DNA_bd. 2 hits. |
| Pfam | PF00292. PAX. 1 hit. [Graphical view] |
| PRINTS | PR00027. PAIREDBOX. |
| SMART | SM00351. PAX. 1 hit. [Graphical view] |
| PROSITE | PS00034. PAIRED_1. 1 hit. PS51057. PAIRED_2. 1 hit. [Graphical view] |
| ProtoNet | Search... |
Other Resources | |
| NextBio | 19560. |
| SOURCE | Search... |
Entry information
| Entry name | PAX2_HUMAN | ||||||||
| Accession | Primary (citable) accession number: Q02962 Secondary accession number(s): Q15105, Q15110, Q15837 | ||||||||
| Entry history |
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| Entry status | Reviewed (UniProtKB/Swiss-Prot) | ||||||||
| Annotation project | HPI (Human Proteome Initiative) | ||||||||
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


