Reviewed, UniProtKB/Swiss-Prot Q02962 (PAX2_HUMAN)

Names and origin

Protein names

Recommended name:
    Paired box protein Pax-2

Gene names

Name:

PAX2

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	Nucleus.
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 perception Traceable author statement. Source: ProtInc
Cellular component	centriolar satellite Inferred from direct assay. Source: UniProtKB nucleus Inferred 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

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified November 1, 1997. Version 3. Checksum: 88A42F5D8307F80E	FASTA	416	44,734
	10 20 30 40 50 60 MDMHCKADPF SAMHPGHGGV NQLGGVFVNG RPLPDVVRQR IVELAHQGVR PCDISRQLRV 70 80 90 100 110 120 SHGCVSKILG RYYETGSIKP GVIGGSKPKV ATPKVVDKIA EYKRQNPTMF AWEIRDRLLA 130 140 150 160 170 180 EGICDNDTVP SVSSINRIIR TKVQQPFHPT PDGAGTGVTA PGHTIVPSTA SPPVSSASND 190 200 210 220 230 240 PVGSYSINGI LGIPRSNGEK RKRDEVEVYT DPAHIRGGGG LHLVWTLRDV SEGSVPNGDS 250 260 270 280 290 300 QSGVDSLRKH LRADTFTQQQ LEALDRVFER PSYPDVFQAS EHIKSEQGNE YSLPALTPGL 310 320 330 340 350 360 DEVKSSLSAS TNPELGSNVS GTQTYPVVTG RDMASTTLPG YPPHVPPTGQ GSYPTSTLAG 370 380 390 400 410 MVPGSEFSGN PYSHPQYTAY NEAWRFSNPA LLSSPYYYSA APRSAPAARA AAYDRH
	Isoform 2 (Fetal kidney) [UniParc]. Checksum: 0FE028784294B10E		419	44,485
	10 20 30 40 50 60 MDMHCKADPF SAMHPGHGGV NQLGGVFVNG RPLPDVVRQR IVELAHQGVR PCDISRQLRV 70 80 90 100 110 120 SHGCVSKILG RYYETGSIKP GVIGGSKPKV ATPKVVDKIA EYKRQNPTMF AWEIRDRLLA 130 140 150 160 170 180 EGICDNDTVP SVSSINRIIR TKVQQPFHPT PDGAGTGVTA PGHTIVPSTA SPPVSSASND 190 200 210 220 230 240 PVGSYSINGI LGIPRSNGEK RKRDEVEVYT DPAHIRGGGG LHLVWTLRDV SEGSVPNGDS 250 260 270 280 290 300 QSGVDSLRKH LRADTFTQQQ LEALDRVFER PSYPDVFQAS EHIKSEQGNE YSLPALTPGL 310 320 330 340 350 360 DEVKSSLSAS TNPELGSNVS GTQTYPVVTG RDMASTTLPG YPPHVPPTGQ GSYPTSTLAG 370 380 390 400 410 MVPEAAVGPS SSLMSKPGRK LAEVPPCVQP TGASSPATRT ATPSTRPTTR LGDSATPPY
	Isoform 3 [UniParc]. Checksum: 65C580369BDD0096		393	42,205
	10 20 30 40 50 60 MDMHCKADPF SAMHPGHGGV NQLGGVFVNG RPLPDVVRQR IVELAHQGVR PCDISRQLRV 70 80 90 100 110 120 SHGCVSKILG RYYETGSIKP GVIGGSKPKV ATPKVVDKIA EYKRQNPTMF AWEIRDRLLA 130 140 150 160 170 180 EGICDNDTVP SVSSINRIIR TKVQQPFHPT PDGAGTGVTA PGHTIVPSTA SPPVSSASND 190 200 210 220 230 240 PVGSYSINGI LGIPRSNGEK RKRDEDVSEG SVPNGDSQSG VDSLRKHLRA DTFTQQQLEA 250 260 270 280 290 300 LDRVFERPSY PDVFQASEHI KSEQGNEYSL PALTPGLDEV KSSLSASTNP ELGSNVSGTQ 310 320 330 340 350 360 TYPVVTGRDM ASTTLPGYPP HVPPTGQGSY PTSTLAGMVP GSEFSGNPYS HPQYTAYNEA 370 380 390 WRFSNPALLS SPYYYSAAPR SAPAARAAAY DRH

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

PAX2 mutation db

Atlas of Genetics and Cytogenetics in Oncology and Haematology

GeneReviews

Cross-references

Sequence databases
EMBLGenBankDDBJ	U45255 , U45245, U45246, U45247, U45248, U45249, U45250, U45251, U45253, 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

Integrated into UniProtKB/Swiss-Prot:	July 1, 1993
Last sequence update:	November 1, 1997
Last modified:	November 25, 2008
This is version 93 of the entry and version 3 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation project

HPI (Human Proteome Initiative)