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Protein

Paired box protein Pax-2

Gene

PAX2

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

Functioni

Transcription factor that may have a role in kidney cell differentiation (PubMed:24676634). Has a critical role in the development of the urogenital tract, the eyes, and the CNS.1 Publication

GO - Molecular functioni

GO - Biological processi

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 Componenti: Chromosome 10

Organism-specific databases

HGNCiHGNC:8616. PAX2.

Subcellular locationi

GO - Cellular componenti

  • centriolar satellite Source: BHF-UCL
  • lysosome Source: Ensembl
  • microtubule organizing center Source: BHF-UCL
  • nucleus Source: UniProtKB
  • protein complex Source: UniProtKB
  • protein-DNA complex Source: UniProtKB
Complete GO annotation...

Keywords - Cellular componenti

Nucleus

Pathology & Biotechi

Involvement in diseasei

Papillorenal syndrome (PAPRS)4 Publications

The disease is caused by mutations affecting the gene represented in this entry.

Disease descriptionAn 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.

See also OMIM:120330
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti2 – 21D → G in PAPRS. 1 Publication
VAR_071937
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
Natural varianti139 – 1391I → V in PAPRS. 1 Publication
VAR_071941
Natural varianti295 – 2951A → V in PAPRS. 1 Publication
VAR_071944
Natural varianti296 – 2961L → P in PAPRS. 1 Publication
VAR_071945
Natural varianti298 – 2981P → S in PAPRS. 1 Publication
VAR_071946
Natural varianti329 – 3291T → A in PAPRS. 1 Publication
VAR_071947

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.

Focal segmental glomerulosclerosis 7 (FSGS7)1 Publication

The disease is caused by mutations affecting the gene represented in this entry.

Disease descriptionA renal pathology defined by the presence of segmental sclerosis in glomeruli and resulting in proteinuria, reduced glomerular filtration rate and progressive decline in renal function. Renal insufficiency often progresses to end-stage renal disease, a highly morbid state requiring either dialysis therapy or kidney transplantation.

See also OMIM:616002
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti56 – 561R → Q in FSGS7; decreased DNA-binding capability and transactivation ability. 1 Publication
VAR_071938
Natural varianti80 – 801P → L in FSGS7; decreased DNA-binding capability and transactivation ability. 1 Publication
VAR_071939
Natural varianti133 – 1331S → F in FSGS7; decreased DNA-binding capability and transactivation ability. 1 Publication
VAR_071940
Natural varianti150 – 1501T → A in FSGS7. 1 Publication
VAR_071942
Natural varianti164 – 1641T → N in FSGS7. 2 Publications
VAR_068094
Natural varianti189 – 1891G → R in FSGS7; transactivation activity is dramatically decreased in presence of TLE4; dramatically enhances interaction with TLE4. 1 Publication
VAR_071943

Keywords - Diseasei

Disease mutation

Organism-specific databases

MIMi120330. phenotype.
616002. phenotype.
Orphaneti97362. Bilateral renal hypoplasia.
93213. Familial idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis.
1475. Renal coloboma syndrome.
PharmGKBiPA32956.

Polymorphism and mutation databases

BioMutaiPAX2.
DMDMi223590261.

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.
GenevisibleiQ02962. HS.

Organism-specific databases

HPAiCAB013024.
HPA047704.

Interactioni

Subunit structurei

Interacts with ELGN3; the interaction targets PAX2 for destruction. Interacts with TLE4.2 Publications

Protein-protein interaction databases

BioGridi111110. 9 interactions.
IntActiQ02962. 17 interactions.
STRINGi9606.ENSP00000396259.

Structurei

3D structure databases

ProteinModelPortaliQ02962.
SMRiQ02962. Positions 19-142, 249-309.
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.
GeneTreeiENSGT00680000099553.
HOGENOMiHOG000230938.
HOVERGENiHBG009115.
InParanoidiQ02962.
KOiK15608.
OMAiYYSATPR.
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. AlignAdd to basket

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 varianti2 – 21D → G in PAPRS. 1 Publication
VAR_071937
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 varianti56 – 561R → Q in FSGS7; decreased DNA-binding capability and transactivation ability. 1 Publication
VAR_071938
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 varianti80 – 801P → L in FSGS7; decreased DNA-binding capability and transactivation ability. 1 Publication
VAR_071939
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 varianti133 – 1331S → F in FSGS7; decreased DNA-binding capability and transactivation ability. 1 Publication
VAR_071940
Natural varianti139 – 1391I → V in PAPRS. 1 Publication
VAR_071941
Natural varianti150 – 1501T → A in FSGS7. 1 Publication
VAR_071942
Natural varianti160 – 1601A → T.1 Publication
Corresponds to variant rs201383632 [ dbSNP | Ensembl ].
VAR_068093
Natural varianti164 – 1641T → N in FSGS7. 2 Publications
VAR_068094
Natural varianti175 – 1751S → T.1 Publication
VAR_068095
Natural varianti189 – 1891G → R in FSGS7; transactivation activity is dramatically decreased in presence of TLE4; dramatically enhances interaction with TLE4. 1 Publication
VAR_071943
Natural varianti295 – 2951A → V in PAPRS. 1 Publication
VAR_071944
Natural varianti296 – 2961L → P in PAPRS. 1 Publication
VAR_071945
Natural varianti298 – 2981P → S in PAPRS. 1 Publication
VAR_071946
Natural varianti329 – 3291T → A in PAPRS. 1 Publication
VAR_071947
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]

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.
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.

3D structure databases

ProteinModelPortaliQ02962.
SMRiQ02962. Positions 19-142, 249-309.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi111110. 9 interactions.
IntActiQ02962. 17 interactions.
STRINGi9606.ENSP00000396259.

PTM databases

PhosphoSiteiQ02962.

Polymorphism and mutation databases

BioMutaiPAX2.
DMDMi223590261.

Proteomic databases

PaxDbiQ02962.
PRIDEiQ02962.

Protocols and materials databases

DNASUi5076.
Structural Biology KnowledgebaseSearch...

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]

Organism-specific databases

CTDi5076.
GeneCardsiGC10P102495.
GeneReviewsiPAX2.
HGNCiHGNC:8616. PAX2.
HPAiCAB013024.
HPA047704.
MIMi120330. phenotype.
167409. gene.
616002. phenotype.
neXtProtiNX_Q02962.
Orphaneti97362. Bilateral renal hypoplasia.
93213. Familial idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis.
1475. Renal coloboma syndrome.
PharmGKBiPA32956.
GenAtlasiSearch...

Phylogenomic databases

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

Enzyme and pathway databases

SignaLinkiQ02962.

Miscellaneous databases

GeneWikiiPAX2.
GenomeRNAii5076.
NextBioi19560.
PROiQ02962.
SOURCEiSearch...

Gene expression databases

BgeeiQ02962.
CleanExiHS_PAX2.
ExpressionAtlasiQ02962. baseline and differential.
GenevisibleiQ02962. HS.

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]
ProtoNetiSearch...

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.
  16. Cited for: INVOLVEMENT IN FSGS7, VARIANTS FSGS7 GLN-56; LEU-80; PHE-133; ALA-150; ASN-164 AND ARG-189, CHARACTERIZATION OF VARIANTS FSGS7 GLN-56; LEU-80; PHE-133 AND ARG-189, VARIANTS PAPRS GLY-2; VAL-139; VAL-295; PRO-296; SER-298 AND ALA-329, INTERACTION WITH TLE4, FUNCTION.

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: June 24, 2015
This is version 164 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

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into Uniref entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.