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Aliases for PAX2 Gene

Aliases for PAX2 Gene

  • Paired Box 2 2 3
  • PAPRS 3 6
  • Paired Box Homeotic Gene 2 3
  • Paired Box Protein Pax-2 3
  • Paired Box Gene 2 2
  • FSGS7 3

External Ids for PAX2 Gene

Previous GeneCards Identifiers for PAX2 Gene

  • GC10P101398
  • GC10P101739
  • GC10P102636
  • GC10P102170
  • GC10P102169
  • GC10P102495
  • GC10P096133

Summaries for PAX2 Gene

Entrez Gene Summary for PAX2 Gene

  • PAX2 encodes paired box gene 2, one of many human homologues of the Drosophila melanogaster gene prd. The central feature of this transcription factor gene family is the conserved DNA-binding paired box domain. PAX2 is believed to be a target of transcriptional supression by the tumor suppressor gene WT1. Mutations within PAX2 have been shown to result in optic nerve colobomas and renal hypoplasia. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Dec 2014]

GeneCards Summary for PAX2 Gene

PAX2 (Paired Box 2) is a Protein Coding gene. Diseases associated with PAX2 include papillorenal syndrome and glomerulosclerosis, focal segmental, 7. Among its related pathways are Wnt signaling pathway (KEGG) and TGF-beta/Smad Signaling. GO annotations related to this gene include transcription regulatory region DNA binding and C2H2 zinc finger domain binding. An important paralog of this gene is PAX4.

UniProtKB/Swiss-Prot for PAX2 Gene

  • 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.

Gene Wiki entry for PAX2 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PAX2 Gene

Genomics for PAX2 Gene

Regulatory Elements for PAX2 Gene

Transcription factor binding sites by QIAGEN in the PAX2 gene promoter:

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for PAX2 Gene

Start:
100,735,603 bp from pter
End:
100,829,941 bp from pter
Size:
94,339 bases
Orientation:
Plus strand

Genomic View for PAX2 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for PAX2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PAX2 Gene

Proteins for PAX2 Gene

  • Protein details for PAX2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q02962-PAX2_HUMAN
    Recommended name:
    Paired box protein Pax-2
    Protein Accession:
    Q02962
    Secondary Accessions:
    • Q15105
    • Q15110
    • Q15837
    • Q5SZP2
    • Q5SZP3

    Protein attributes for PAX2 Gene

    Size:
    417 amino acids
    Molecular mass:
    44706 Da
    Quaternary structure:
    • Interacts with ELGN3; the interaction targets PAX2 for destruction. Interacts with TLE4.

    Alternative splice isoforms for PAX2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for PAX2 Gene

Proteomics data for PAX2 Gene at MOPED

Post-translational modifications for PAX2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for PAX2 (PAX2)

No data available for DME Specific Peptides for PAX2 Gene

Domains for PAX2 Gene

Gene Families for PAX2 Gene

HGNC:
  • PAX :Paired boxes
  • PRD :Homeoboxes / PRD class

Protein Domains for PAX2 Gene

Suggested Antigen Peptide Sequences for PAX2 Gene

Graphical View of Domain Structure for InterPro Entry

Q02962

UniProtKB/Swiss-Prot:

PAX2_HUMAN :
  • Q02962
Domain:
  • Contains 1 paired domain.
genes like me logo Genes that share domains with PAX2: view

Function for PAX2 Gene

Molecular function for PAX2 Gene

GENATLAS Biochemistry: paired box (DNA binding) containing protein 2,with a truncated homeo domain and an alternatively spliced form PAX2D,leading to a shift in the reading frame and an extended conserved coding region at the C terminus,expressed in fetal kidney,throughout the branching ureteric bud Wolffian and Mullerian ducts,eye,CNS,ear,repressed by WT1 in podocyte during early stages of nephrogenesis,playing an essential role for the branching ureteric the development of renal epithelium,dysregulated and leading to diseases in cases of haploinsufficiency(see ONCRV) or persistent expression (see DDS)
UniProtKB/Swiss-Prot Function: 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.

Gene Ontology (GO) - Molecular Function for PAX2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000978 RNA polymerase II core promoter proximal region sequence-specific DNA binding IEA --
GO:0000982 RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity IEA --
GO:0000987 core promoter proximal region sequence-specific DNA binding IDA 19118900
GO:0003677 DNA binding ISS --
GO:0005515 protein binding IPI 21575608
genes like me logo Genes that share ontologies with PAX2: view
genes like me logo Genes that share phenotypes with PAX2: view

Animal Models for PAX2 Gene

MGI Knock Outs for PAX2:

Animal Model Products

CRISPR Products

miRNA for PAX2 Gene

miRTarBase miRNAs that target PAX2

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for PAX2

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targeting and HOMER Transcription for PAX2 Gene

Localization for PAX2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for PAX2 Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for PAX2 Gene COMPARTMENTS Subcellular localization image for PAX2 gene
Compartment Confidence
nucleus 5
cytoskeleton 4
lysosome 2
vacuole 2
extracellular 1
plasma membrane 1

Gene Ontology (GO) - Cellular Components for PAX2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA 19048125
GO:0005764 lysosome IEA --
GO:0005815 microtubule organizing center IDA 18000879
GO:0032993 protein-DNA complex ISS --
GO:0034451 centriolar satellite IDA 18000879
genes like me logo Genes that share ontologies with PAX2: view

Pathways for PAX2 Gene

genes like me logo Genes that share pathways with PAX2: view

Pathways by source for PAX2 Gene

1 Cell Signaling Technology pathway for PAX2 Gene
2 BioSystems pathways for PAX2 Gene

PCR Array Products

  • Pathway & Disease-focused RT² Profiler PCR Arrays
    • Neurogenesis in human,mouse,rat
    • Osmotic Stress in human,mouse,rat
    • Stem Cell Transcription Factors in human,mouse,rat

Gene Ontology (GO) - Biological Process for PAX2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000122 negative regulation of transcription from RNA polymerase II promoter IEA --
GO:0001655 urogenital system development ISS --
GO:0001656 metanephros development --
GO:0001657 ureteric bud development --
GO:0001658 branching involved in ureteric bud morphogenesis ISS --
genes like me logo Genes that share ontologies with PAX2: view

Compounds for PAX2 Gene

(4) Novoseek inferred chemical compound relationships for PAX2 Gene

Compound -log(P) Hits PubMed IDs
threonine 14.8 3
glyceraldehyde 3-phosphate 5.48 2
tyrosine 0 1
serine 0 2
genes like me logo Genes that share compounds with PAX2: view

Transcripts for PAX2 Gene

Unigene Clusters for PAX2 Gene

Paired box 2:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for PAX2

Primer Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for PAX2 Gene

ExUns: 1a · 1b ^ 2 ^ 3a · 3b ^ 4 ^ 5 ^ 6a · 6b ^ 7 ^ 8a · 8b ^ 9 ^ 10 ^ 11 ^ 12
SP1:
SP2: -
SP3: -
SP4: - - - -
SP5:

Relevant External Links for PAX2 Gene

GeneLoc Exon Structure for
PAX2
ECgene alternative splicing isoforms for
PAX2

Expression for PAX2 Gene

mRNA expression in normal human tissues for PAX2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for PAX2 Gene

This gene is overexpressed in Kidney - Cortex (41.7) and Cervix - Endocervix (4.6).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, and MOPED for PAX2 Gene

SOURCE GeneReport for Unigene cluster for PAX2 Gene Hs.155644

mRNA Expression by UniProt/SwissProt for PAX2 Gene

Q02962-PAX2_HUMAN
Tissue specificity: Expressed in primitive cells of the kidney, ureter, eye, ear and central nervous system
genes like me logo Genes that share expressions with PAX2: view

In Situ Assay Products

Orthologs for PAX2 Gene

This gene was present in the common ancestor of animals.

Orthologs for PAX2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia PAX2 35
  • 99.32 (n)
  • 99.49 (a)
PAX2 36
  • 89 (a)
OneToOne
cow
(Bos Taurus)
Mammalia PAX2 35
  • 96.1 (n)
  • 99.24 (a)
PAX2 36
  • 100 (a)
OneToOne
dog
(Canis familiaris)
Mammalia PAX2 35
  • 96.66 (n)
  • 100 (a)
PAX2 36
  • 81 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Pax2 35
  • 94.57 (n)
  • 98.73 (a)
Pax2 16
Pax2 36
  • 99 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia PAX2 36
  • 94 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 79 (a)
OneToMany
-- 36
  • 67 (a)
OneToMany
rat
(Rattus norvegicus)
Mammalia Pax2 35
  • 94.64 (n)
  • 98.98 (a)
chicken
(Gallus gallus)
Aves PAX2 35
  • 85.67 (n)
  • 95.42 (a)
PAX2 36
  • 63 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia -- 36
  • 94 (a)
OneToMany
-- 36
  • 100 (a)
OneToMany
African clawed frog
(Xenopus laevis)
Amphibia pax2-A 35
tropical clawed frog
(Silurana tropicalis)
Amphibia Str.10259 35
zebrafish
(Danio rerio)
Actinopterygii pax2a 35
  • 79.83 (n)
  • 88.72 (a)
pax2a 36
  • 85 (a)
OneToMany
pax2b 36
  • 88 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta sv 36
  • 23 (a)
OneToMany
sv 37
  • 86 (a)
Poxn 37
  • 71 (a)
Poxm 37
  • 70 (a)
worm
(Caenorhabditis elegans)
Secernentea egl-38 36
  • 43 (a)
ManyToMany
npax-2 36
  • 25 (a)
ManyToMany
pax-2 36
  • 36 (a)
ManyToMany
K07C11.1 37
  • 67 (a)
egl-38 37
  • 75 (a)
K06B9.5 37
  • 64 (a)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.1461 35
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 46 (a)
ManyToMany
-- 36
  • 16 (a)
ManyToMany
Species with no ortholog for PAX2:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for PAX2 Gene

ENSEMBL:
Gene Tree for PAX2 (if available)
TreeFam:
Gene Tree for PAX2 (if available)

Paralogs for PAX2 Gene

Paralogs for PAX2 Gene

Selected SIMAP similar genes for PAX2 Gene using alignment to 7 proteins:

genes like me logo Genes that share paralogs with PAX2: view

Variants for PAX2 Gene

Sequence variations from dbSNP and Humsavar for PAX2 Gene

SNP ID Clin Chr 10 pos Sequence Context AA Info Type MAF
rs876670 -- 100,811,803(-) CACCT(C/T)GGCAC intron-variant
rs876671 -- 100,811,687(-) TCCCA(C/G)CAAAG intron-variant
rs927638 -- 100,810,358(-) AGGCT(A/G)GGAAA intron-variant
rs998799 -- 100,781,754(+) TGAGG(G/T)AGTGA intron-variant
rs1006544 -- 100,794,238(-) ACTTG(A/G)TATAA intron-variant

Structural Variations from Database of Genomic Variants (DGV) for PAX2 Gene

Variant ID Type Subtype PubMed ID
essv14536 CNV CNV 17122850
dgv812n71 CNV Loss 21882294
nsv831964 CNV Loss 17160897
esv2669276 CNV Deletion 23128226
nsv7524 CNV Insertion 18451855
esv2740128 CNV Deletion 23290073
esv2740140 CNV Deletion 23290073
nsv825545 CNV Gain 20364138

Relevant External Links for PAX2 Gene

HapMap Linkage Disequilibrium report
PAX2
Human Gene Mutation Database (HGMD)
PAX2
Locus Specific Mutation Databases (LSDB)
PAX2

PCR Panel Products

  • Copy Number PCR Panels: for PAX2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PAX2 Gene

Disorders for PAX2 Gene

(2) OMIM Diseases for PAX2 Gene (167409)

UniProtKB/Swiss-Prot

PAX2_HUMAN
  • 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. {ECO:0000269 PubMed:15652857, ECO:0000269 PubMed:19954729, ECO:0000269 PubMed:22213154, ECO:0000269 PubMed:9760197}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Note=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) [MIM:616002]: A 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. {ECO:0000269 PubMed:24676634}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(47) Novoseek inferred disease relationships for PAX2 Gene

Disease -log(P) Hits PubMed IDs
renal-coloboma syndrome 98.5 46
coloboma 89.4 19
wilms tumor 75.8 24
renal anomaly 75.1 6
hypoplasia 70.9 18

Relevant External Links for PAX2

GeneTests
PAX2
GeneReviews
PAX2
Genetic Association Database (GAD)
PAX2
Human Genome Epidemiology (HuGE) Navigator
PAX2
genes like me logo Genes that share disorders with PAX2: view

Publications for PAX2 Gene

  1. Expression of the PAX2 gene in human fetal kidney and Wilms' tumor. (PMID: 1378753) Eccles M.R. … Reeve A.E. (Cell Growth Differ. 1992) 3 4 23
  2. Genomic structure of the human PAX2 gene. (PMID: 8661132) Sanyanusin P. … Eccles M.R. (Genomics 1996) 3 4 23
  3. Missense mutation and hexanucleotide duplication in the PAX2 gene in two unrelated families with renal-coloboma syndrome (MIM 120330). (PMID: 9760197) Devriendt K. … Leys A. (Hum. Genet. 1998) 3 4 23
  4. PAX2 mutations in oligomeganephronia. (PMID: 11168927) Salomon R. … Broyer M. (Kidney Int. 2001) 3 4 23
  5. Macular abnormalities and optic disk anomaly associated with a new PAX2 missense mutation. (PMID: 15652857) Higashide T. … Sugiyama K. (Am. J. Ophthalmol. 2005) 3 4 23

Products for PAX2 Gene

Sources for PAX2 Gene

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