Details for: PAX2

Gene ID: 5076

Symbol: PAX2

Ensembl ID: ENSG00000075891

Description: paired box 2

Associated with

  • Developmental biology
    (R-HSA-1266738)
  • Formation of intermediate mesoderm
    (R-HSA-9761174)
  • Formation of the nephric duct
    (R-HSA-9830364)
  • Formation of the ureteric bud
    (R-HSA-9830674)
  • Gastrulation
    (R-HSA-9758941)
  • Kidney development
    (R-HSA-9830369)
  • Nephron development
    (R-HSA-9831926)
  • Axonogenesis
    (GO:0007409)
  • Brain morphogenesis
    (GO:0048854)
  • Branching involved in ureteric bud morphogenesis
    (GO:0001658)
  • Camera-type eye development
    (GO:0043010)
  • Cell fate determination
    (GO:0001709)
  • Cellular response to epidermal growth factor stimulus
    (GO:0071364)
  • Cellular response to glucose stimulus
    (GO:0071333)
  • Cellular response to retinoic acid
    (GO:0071300)
  • Centriolar satellite
    (GO:0034451)
  • Chromatin
    (GO:0000785)
  • Cis-regulatory region sequence-specific dna binding
    (GO:0000987)
  • Cochlea development
    (GO:0090102)
  • Cochlea morphogenesis
    (GO:0090103)
  • Dna-binding transcription factor activity
    (GO:0003700)
  • Dna-binding transcription factor activity, rna polymerase ii-specific
    (GO:0000981)
  • Dna binding
    (GO:0003677)
  • Glial cell differentiation
    (GO:0010001)
  • Inner ear morphogenesis
    (GO:0042472)
  • Mesenchymal to epithelial transition
    (GO:0060231)
  • Mesenchymal to epithelial transition involved in metanephros morphogenesis
    (GO:0003337)
  • Mesodermal cell fate specification
    (GO:0007501)
  • Mesonephros development
    (GO:0001823)
  • Metanephric collecting duct development
    (GO:0072205)
  • Metanephric distal convoluted tubule development
    (GO:0072221)
  • Metanephric epithelium development
    (GO:0072207)
  • Metanephric mesenchymal cell differentiation
    (GO:0072162)
  • Metanephric mesenchyme development
    (GO:0072075)
  • Metanephric nephron tubule formation
    (GO:0072289)
  • Microtubule organizing center
    (GO:0005815)
  • Negative regulation of apoptotic process
    (GO:0043066)
  • Negative regulation of apoptotic process involved in metanephric collecting duct development
    (GO:1900215)
  • Negative regulation of apoptotic process involved in metanephric nephron tubule development
    (GO:1900218)
  • Negative regulation of cysteine-type endopeptidase activity involved in apoptotic process
    (GO:0043154)
  • Negative regulation of dna-templated transcription
    (GO:0045892)
  • Negative regulation of mesenchymal cell apoptotic process involved in metanephric nephron morphogenesis
    (GO:0072305)
  • Negative regulation of mesenchymal cell apoptotic process involved in metanephros development
    (GO:1900212)
  • Negative regulation of programmed cell death
    (GO:0043069)
  • Negative regulation of reactive oxygen species metabolic process
    (GO:2000378)
  • Nephric duct formation
    (GO:0072179)
  • Nervous system development
    (GO:0007399)
  • Neural tube closure
    (GO:0001843)
  • Nucleoplasm
    (GO:0005654)
  • Nucleus
    (GO:0005634)
  • Optic chiasma development
    (GO:0061360)
  • Optic cup morphogenesis involved in camera-type eye development
    (GO:0002072)
  • Optic nerve development
    (GO:0021554)
  • Optic nerve morphogenesis
    (GO:0021631)
  • Optic nerve structural organization
    (GO:0021633)
  • Positive regulation of dna-templated transcription
    (GO:0045893)
  • Positive regulation of epithelial cell proliferation
    (GO:0050679)
  • Positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis
    (GO:0072108)
  • Positive regulation of metanephric dct cell differentiation
    (GO:2000594)
  • Positive regulation of metanephric glomerulus development
    (GO:0072300)
  • Positive regulation of optic nerve formation
    (GO:2000597)
  • Positive regulation of transcription by rna polymerase ii
    (GO:0045944)
  • Pronephric field specification
    (GO:0039003)
  • Pronephros development
    (GO:0048793)
  • Protein-containing complex
    (GO:0032991)
  • Protein-dna complex
    (GO:0032993)
  • Protein binding
    (GO:0005515)
  • Regulation of metanephric nephron tubule epithelial cell differentiation
    (GO:0072307)
  • Regulation of metanephros size
    (GO:0035566)
  • Regulation of transcription by rna polymerase ii
    (GO:0006357)
  • Response to nutrient levels
    (GO:0031667)
  • Retinal pigment epithelium development
    (GO:0003406)
  • Rna polymerase ii cis-regulatory region sequence-specific dna binding
    (GO:0000978)
  • Sensory organ development
    (GO:0007423)
  • Sequence-specific double-stranded dna binding
    (GO:1990837)
  • Stem cell differentiation
    (GO:0048863)
  • Transcription cis-regulatory region binding
    (GO:0000976)
  • Transcription factor binding
    (GO:0008134)
  • Ureter development
    (GO:0072189)
  • Ureter maturation
    (GO:0035799)
  • Urogenital system development
    (GO:0001655)
  • Vestibulocochlear nerve formation
    (GO:0021650)
  • Visual perception
    (GO:0007601)

Cells (max top 100)

(Cell Significance Index and respective Thresholds are uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: epithelial cell of nephron (CL1000449)
    Fold Change: 29.4523
    Cell Significance Index: 250.3300
  • Cell Name: kidney cell (CL1000497)
    Fold Change: 5.0919
    Cell Significance Index: 40.6600
  • Cell Name: epithelial cell of uterus (CL0002149)
    Fold Change: 4.7951
    Cell Significance Index: 66.5300
  • Cell Name: mesonephric nephron tubule epithelial cell (CL1000022)
    Fold Change: 4.0144
    Cell Significance Index: 139.5000
  • Cell Name: taste receptor cell (CL0000209)
    Fold Change: 3.5817
    Cell Significance Index: 41.6400
  • Cell Name: columnar/cuboidal epithelial cell (CL0000075)
    Fold Change: 2.7161
    Cell Significance Index: 10.4000
  • Cell Name: CD14-low, CD16-positive monocyte (CL0002396)
    Fold Change: 2.0601
    Cell Significance Index: 49.9000
  • Cell Name: peg cell (CL4033014)
    Fold Change: 1.2141
    Cell Significance Index: 28.0500
  • Cell Name: fallopian tube secretory epithelial cell (CL4030006)
    Fold Change: 0.8836
    Cell Significance Index: 13.6700
  • Cell Name: kidney collecting duct cell (CL1001225)
    Fold Change: 0.8446
    Cell Significance Index: 2.9000
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: 0.6858
    Cell Significance Index: 374.5200
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.3627
    Cell Significance Index: 71.9700
  • Cell Name: renal principal cell (CL0005009)
    Fold Change: 0.1956
    Cell Significance Index: 2.0700
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: 0.0968
    Cell Significance Index: 13.2900
  • Cell Name: kidney loop of Henle cortical thick ascending limb epithelial cell (CL1001109)
    Fold Change: 0.0737
    Cell Significance Index: 54.0100
  • Cell Name: eukaryotic cell (CL0000255)
    Fold Change: 0.0518
    Cell Significance Index: 2.2500
  • Cell Name: obsolete epithelial cell of alveolus of lung (CL0010003)
    Fold Change: 0.0284
    Cell Significance Index: 0.7100
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 0.0110
    Cell Significance Index: 2.2100
  • Cell Name: kidney connecting tubule epithelial cell (CL1000768)
    Fold Change: 0.0079
    Cell Significance Index: 0.0900
  • Cell Name: kidney collecting duct intercalated cell (CL1001432)
    Fold Change: 0.0053
    Cell Significance Index: 0.0500
  • Cell Name: epithelial cell of proximal tubule (CL0002306)
    Fold Change: 0.0052
    Cell Significance Index: 0.0400
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: 0.0002
    Cell Significance Index: 0.4100
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: -0.0011
    Cell Significance Index: -0.1100
  • Cell Name: basal cell of prostate epithelium (CL0002341)
    Fold Change: -0.0026
    Cell Significance Index: -0.0700
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: -0.0047
    Cell Significance Index: -8.6200
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: -0.0058
    Cell Significance Index: -8.9800
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: -0.0060
    Cell Significance Index: -8.1900
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0067
    Cell Significance Index: -4.9600
  • Cell Name: medial ganglionic eminence derived interneuron (CL4023063)
    Fold Change: -0.0070
    Cell Significance Index: -0.1000
  • Cell Name: kidney loop of Henle descending limb epithelial cell (CL1001021)
    Fold Change: -0.0086
    Cell Significance Index: -0.6800
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.0087
    Cell Significance Index: -4.8900
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: -0.0103
    Cell Significance Index: -3.6900
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: -0.0105
    Cell Significance Index: -6.6800
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: -0.0110
    Cell Significance Index: -1.8700
  • Cell Name: secretory cell (CL0000151)
    Fold Change: -0.0130
    Cell Significance Index: -0.0900
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: -0.0135
    Cell Significance Index: -3.8900
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: -0.0162
    Cell Significance Index: -7.3600
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: -0.0240
    Cell Significance Index: -1.0900
  • Cell Name: mesenchymal stem cell (CL0000134)
    Fold Change: -0.0258
    Cell Significance Index: -0.2500
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: -0.0336
    Cell Significance Index: -0.9400
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: -0.0344
    Cell Significance Index: -1.9300
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: -0.0347
    Cell Significance Index: -5.0400
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: -0.0377
    Cell Significance Index: -6.8000
  • Cell Name: lactocyte (CL0002325)
    Fold Change: -0.0382
    Cell Significance Index: -4.9400
  • Cell Name: kidney loop of Henle thick ascending limb epithelial cell (CL1001106)
    Fold Change: -0.0399
    Cell Significance Index: -0.3600
  • Cell Name: hippocampal granule cell (CL0001033)
    Fold Change: -0.0460
    Cell Significance Index: -3.0900
  • Cell Name: kidney collecting duct principal cell (CL1001431)
    Fold Change: -0.0461
    Cell Significance Index: -0.4200
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.0463
    Cell Significance Index: -5.3100
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: -0.0485
    Cell Significance Index: -3.6200
  • Cell Name: periportal region hepatocyte (CL0019026)
    Fold Change: -0.0488
    Cell Significance Index: -0.7200
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: -0.0492
    Cell Significance Index: -6.0500
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: -0.0560
    Cell Significance Index: -5.8300
  • Cell Name: kidney loop of Henle thin descending limb epithelial cell (CL1001111)
    Fold Change: -0.0574
    Cell Significance Index: -0.6200
  • Cell Name: CD4-positive, alpha-beta thymocyte (CL0000810)
    Fold Change: -0.0574
    Cell Significance Index: -0.9900
  • Cell Name: basal cell of epidermis (CL0002187)
    Fold Change: -0.0579
    Cell Significance Index: -0.8800
  • Cell Name: neuron associated cell (CL0000095)
    Fold Change: -0.0582
    Cell Significance Index: -2.3800
  • Cell Name: kidney epithelial cell (CL0002518)
    Fold Change: -0.0604
    Cell Significance Index: -1.7800
  • Cell Name: skeletal muscle fiber (CL0008002)
    Fold Change: -0.0615
    Cell Significance Index: -1.5800
  • Cell Name: melanocyte of skin (CL1000458)
    Fold Change: -0.0642
    Cell Significance Index: -0.9000
  • Cell Name: fibro/adipogenic progenitor cell (CL0009099)
    Fold Change: -0.0692
    Cell Significance Index: -3.5000
  • Cell Name: preadipocyte (CL0002334)
    Fold Change: -0.0799
    Cell Significance Index: -1.5600
  • Cell Name: kidney loop of Henle thin ascending limb epithelial cell (CL1001107)
    Fold Change: -0.0846
    Cell Significance Index: -0.8400
  • Cell Name: fibroblast of dermis (CL0002551)
    Fold Change: -0.0846
    Cell Significance Index: -1.7700
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: -0.0926
    Cell Significance Index: -7.1100
  • Cell Name: eye photoreceptor cell (CL0000287)
    Fold Change: -0.0982
    Cell Significance Index: -6.1900
  • Cell Name: forebrain neuroblast (CL1000042)
    Fold Change: -0.0995
    Cell Significance Index: -6.1200
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: -0.1017
    Cell Significance Index: -4.7800
  • Cell Name: duct epithelial cell (CL0000068)
    Fold Change: -0.1244
    Cell Significance Index: -1.7200
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: -0.1249
    Cell Significance Index: -4.0900
  • Cell Name: slow muscle cell (CL0000189)
    Fold Change: -0.1250
    Cell Significance Index: -1.8700
  • Cell Name: stromal cell of endometrium (CL0002255)
    Fold Change: -0.1258
    Cell Significance Index: -1.7900
  • Cell Name: helper T cell (CL0000912)
    Fold Change: -0.1291
    Cell Significance Index: -1.8300
  • Cell Name: Purkinje cell (CL0000121)
    Fold Change: -0.1347
    Cell Significance Index: -2.9500
  • Cell Name: cerebellar granule cell (CL0001031)
    Fold Change: -0.1383
    Cell Significance Index: -2.3700
  • Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
    Fold Change: -0.1390
    Cell Significance Index: -4.8700
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: -0.1411
    Cell Significance Index: -7.4100
  • Cell Name: indirect pathway medium spiny neuron (CL4023029)
    Fold Change: -0.1412
    Cell Significance Index: -6.2500
  • Cell Name: skeletal muscle fibroblast (CL0011027)
    Fold Change: -0.1433
    Cell Significance Index: -0.9700
  • Cell Name: nasal mucosa goblet cell (CL0002480)
    Fold Change: -0.1480
    Cell Significance Index: -1.5100
  • Cell Name: direct pathway medium spiny neuron (CL4023026)
    Fold Change: -0.1553
    Cell Significance Index: -5.8800
  • Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
    Fold Change: -0.1582
    Cell Significance Index: -5.0400
  • Cell Name: skeletal muscle myoblast (CL0000515)
    Fold Change: -0.1628
    Cell Significance Index: -1.7700
  • Cell Name: fibroblast of mammary gland (CL0002555)
    Fold Change: -0.1790
    Cell Significance Index: -5.1300
  • Cell Name: kidney distal convoluted tubule epithelial cell (CL1000849)
    Fold Change: -0.1818
    Cell Significance Index: -1.9100
  • Cell Name: osteoblast (CL0000062)
    Fold Change: -0.1835
    Cell Significance Index: -1.7800
  • Cell Name: stratified epithelial cell (CL0000079)
    Fold Change: -0.1863
    Cell Significance Index: -6.8400
  • Cell Name: fibroblast of connective tissue of glandular part of prostate (CL1000305)
    Fold Change: -0.1883
    Cell Significance Index: -2.0800
  • Cell Name: glandular epithelial cell (CL0000150)
    Fold Change: -0.1885
    Cell Significance Index: -1.5000
  • Cell Name: fibroblast of connective tissue of nonglandular part of prostate (CL1000304)
    Fold Change: -0.1906
    Cell Significance Index: -2.0800
  • Cell Name: hippocampal pyramidal neuron (CL1001571)
    Fold Change: -0.1927
    Cell Significance Index: -5.5000
  • Cell Name: L5/6 near-projecting glutamatergic neuron (CL4030067)
    Fold Change: -0.1929
    Cell Significance Index: -1.0100
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: -0.1969
    Cell Significance Index: -10.2300
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: -0.1980
    Cell Significance Index: -9.2300
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: -0.1992
    Cell Significance Index: -5.3200
  • Cell Name: CD4-positive, alpha-beta memory T cell, CD45RO-positive (CL0001204)
    Fold Change: -0.2006
    Cell Significance Index: -5.8900
  • Cell Name: kidney capillary endothelial cell (CL1000892)
    Fold Change: -0.2018
    Cell Significance Index: -2.0900
  • Cell Name: professional antigen presenting cell (CL0000145)
    Fold Change: -0.2035
    Cell Significance Index: -1.8400
  • Cell Name: mesenchymal cell (CL0008019)
    Fold Change: -0.2044
    Cell Significance Index: -3.4200
  • Cell Name: near-projecting glutamatergic cortical neuron (CL4023012)
    Fold Change: -0.2089
    Cell Significance Index: -5.2100
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: -0.2154
    Cell Significance Index: -7.5700

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this specific cell.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Other Information

**Key Characteristics** 1. **Paired Box Domain**: PAX2 contains a paired box (PAX) domain, a conserved DNA-binding motif that enables the transcription factor to regulate gene expression. 2. **Tissue-Specific Expression**: PAX2 is highly expressed in specific cell types, including renal principal cells, taste receptor cells, and epithelial cells of the nephron. 3. **Developmental Gene**: PAX2 is involved in various developmental processes, including organogenesis, cell fate determination, and tissue morphogenesis. 4. **Regulatory Function**: PAX2 regulates gene expression by binding to specific DNA sequences, modulating transcriptional activity. **Pathways and Functions** 1. **Wnt/β-catenin Signaling Pathway**: PAX2 interacts with the Wnt/β-catenin signaling pathway to regulate cell proliferation, differentiation, and survival in the kidneys. 2. **Notch Signaling Pathway**: PAX2 modulates the Notch signaling pathway to control cell fate determination and tissue morphogenesis in the developing kidneys. 3. **Apoptosis Regulation**: PAX2 negatively regulates apoptosis in renal cells, preventing excessive cell death during development. 4. **Cell Proliferation and Differentiation**: PAX2 regulates cell proliferation and differentiation in the kidneys, ensuring proper development of the nephron. **Clinical Significance** 1. **Wilms Tumor**: PAX2 mutations are commonly found in Wilms tumor, a childhood kidney cancer, highlighting the gene's role in tumorigenesis. 2. **Congenital Anomalies**: PAX2 mutations are also associated with congenital anomalies of the urinary tract, including kidney agenesis and ureteral abnormalities. 3. **Kidney Development**: PAX2's dysregulation can lead to kidney developmental abnormalities, emphasizing the gene's importance in renal organogenesis. 4. **Cancer Therapy**: Targeting PAX2 in cancer therapy may offer a novel approach to treating kidney cancer and other PAX2-dependent tumors. In conclusion, the PAX2 gene plays a crucial role in various developmental processes, including organogenesis, cell fate determination, and tissue morphogenesis. Its dysregulation has been implicated in human diseases, including Wilms tumor and congenital anomalies of the urinary tract. Further research on PAX2's regulatory functions and clinical significance will provide valuable insights into the molecular mechanisms underlying kidney development and tumorigenesis.

Genular Protein ID: 1378011534

Symbol: PAX2_HUMAN

Name: Paired box protein Pax-2

UniProtKB Accession Codes:

Q02962 Q15105 Q15110 Q15837 Q5SZP2 Q5SZP3

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 Bgee 1 BindingDB 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 3 CDD 1 CTD 1 ChiTaRS 1 DMDM 1 DNASU 1 DisGeNET 1 EMBL 19 Ensembl 3 ExpressionAtlas 1 GO 73 Gene3D 1 GeneCards 1 GeneReviews 1 GeneTree 1 GeneWiki 1 GenomeRNAi 1 HGNC 1 HPA 1 InParanoid 1 IntAct 1 InterPro 6 KEGG 1 MANE-Select 1 MIM 5 MINT 1 MalaCards 1 MassIVE 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 Orphanet 3 OrthoDB 1 PANTHER 2 PIR 1 PRINTS 1 PRO 1 PROSITE 2 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 2 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 4 RNAct 1 Reactome 3 RefSeq 6 SIGNOR 1 SMART 1 SMR 1 STRING 1 SUPFAM 1 SignaLink 1 TreeFam 1 UCSC 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 neXtProt 1

Citations:

PubMed ID: 1378753

Title: Expression of the PAX2 gene in human fetal kidney and Wilms' tumor.

PubMed ID: 1378753

PubMed ID: 7819127

Title: Alternative messenger RNA forms and open reading frames within an additional conserved region of the human PAX-2 gene.

PubMed ID: 7819127

PubMed ID: 8661132

Title: Genomic structure of the human PAX2 gene.

PubMed ID: 8661132

DOI: 10.1006/geno.1996.0350

PubMed ID: 15164054

Title: The DNA sequence and comparative analysis of human chromosome 10.

PubMed ID: 15164054

DOI: 10.1038/nature02462

PubMed ID: 7981748

Title: Chromosomal localization of seven PAX genes and cloning of a novel family member, PAX-9.

PubMed ID: 7981748

DOI: 10.1038/ng0493-292

PubMed ID: 19690332

Title: Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions.

PubMed ID: 19690332

DOI: 10.1126/scisignal.2000007

PubMed ID: 21575608

Title: Prolyl hydroxylase domain protein 3 targets Pax2 for destruction.

PubMed ID: 21575608

DOI: 10.1016/j.bbrc.2011.05.012

PubMed ID: 21380624

Title: HNF1B and PAX2 mutations are a common cause of renal hypodysplasia in the CKiD cohort.

PubMed ID: 21380624

DOI: 10.1007/s00467-011-1826-9

PubMed ID: 9760197

Title: Missense mutation and hexanucleotide duplication in the PAX2 gene in two unrelated families with renal-coloboma syndrome (MIM 120330).

PubMed ID: 9760197

DOI: 10.1007/s004390050798

PubMed ID: 11180607

Title: Identification of two novel polymorphisms (g.903C>T and g.1544C>T) in the PAX2 gene.

PubMed ID: 11180607

DOI: 10.1002/1098-1004(200102)17:2<155::aid-humu16>3.0.co;2-9

PubMed ID: 11168927

Title: PAX2 mutations in oligomeganephronia.

PubMed ID: 11168927

DOI: 10.1046/j.1523-1755.2001.059002457.x

PubMed ID: 15652857

Title: Macular abnormalities and optic disk anomaly associated with a new PAX2 missense mutation.

PubMed ID: 15652857

DOI: 10.1016/j.ajo.2004.07.021

PubMed ID: 19954729

Title: A case of renal-coloboma syndrome associated with mental developmental delay exhibiting a novel PAX2 gene mutation.

PubMed ID: 19954729

DOI: 10.5414/cnp72497

PubMed ID: 22213154

Title: Update of PAX2 mutations in renal coloboma syndrome and establishment of a locus-specific database.

PubMed ID: 22213154

DOI: 10.1002/humu.22020

PubMed ID: 24676634

Title: Mutations in PAX2 associate with adult-onset FSGS.

PubMed ID: 24676634

DOI: 10.1681/asn.2013070686

Sequence Information:

  • Length: 417
  • Mass: 44706
  • Checksum: 7EA24F9EB8C843F8
  • Sequence:
    • MDMHCKADPF SAMHPGHGGV NQLGGVFVNG RPLPDVVRQR IVELAHQGVR PCDISRQLRV 
SHGCVSKILG RYYETGSIKP GVIGGSKPKV ATPKVVDKIA EYKRQNPTMF AWEIRDRLLA 
EGICDNDTVP SVSSINRIIR TKVQQPFHPT PDGAGTGVTA PGHTIVPSTA SPPVSSASND 
PVGSYSINGI LGIPRSNGEK RKRDEVEVYT DPAHIRGGGG LHLVWTLRDV SEGSVPNGDS 
QSGVDSLRKH LRADTFTQQQ LEALDRVFER PSYPDVFQAS EHIKSEQGNE YSLPALTPGL 
DEVKSSLSAS TNPELGSNVS GTQTYPVVTG RDMASTTLPG YPPHVPPTGQ GSYPTSTLAG 
MVPGSEFSGN PYSHPQYTAY NEAWRFSNPA LLSSPYYYSA APRGSAPAAA AAAYDRH

Genular Protein ID: 290440669

Symbol: A0A9L9PXU6_HUMAN

Name: N/A

UniProtKB Accession Codes:

A0A9L9PXU6

Database IDs:

ARBA 7 CDD 1 CTD 1 EMBL 4 Ensembl 2 GO 3 Gene3D 1 GeneTree 1 HGNC 1 InterPro 6 NCBI Taxonomy 1 PANTHER 2 PRINTS 1 PROSITE 3 PeptideAtlas 1 Pfam 2 Proteomes 2 ProteomicsDB 1 RefSeq 1 SAM 1 SMART 1 SUPFAM 1

Citations:

PubMed ID: 11237011

Title: Initial sequencing and analysis of the human genome.

PubMed ID: 11237011

DOI: 10.1038/35057062

PubMed ID: 11181995

Title: The sequence of the human genome.

PubMed ID: 11181995

DOI: 10.1126/science.1058040

PubMed ID: 15164054

Title: The DNA sequence and comparative analysis of human chromosome 10.

PubMed ID: 15164054

DOI: 10.1038/nature02462

PubMed ID: 15496913

Title: Finishing the euchromatic sequence of the human genome.

PubMed ID: 15496913

DOI: 10.1038/nature03001

Sequence Information:

  • Length: 432
  • Mass: 46380
  • Checksum: E225D3F1CE2DC982
  • Sequence:
    • MDMHCKADPF SAMHPGHGGV NQLGGVFVNG RPLPDVVRQR IVELAHQGVR PCDISRQLRV 
SHGCVSKILG RYYETGSIKP GVIGGSKPKV ATPKVVDKIA EYKRQNPTMF AWEIRDRLLA 
EGICDNDTVP SVSSINRIIR TKVQQPFHPT PDGAGTGVTA PGHTIVPSTA SPPVSSASND 
PVGSYSINGI LGIPRSNGEK RKRDEVEVYT DPAHIRGGGG LHLVWTLRDV SEGSVPNGDS 
QSGVDSLRKH LRADTFTQQQ LEALDRVFER PSYPDVFQAS EHIKSEQGNE YSLPALTPGL 
DEVKSSLSAS TNPELGSNVS GTQTYPVVTG RDMASTTLPG YPPHVPPTGQ GSYPTSTLAG 
MVPGSEFSGN PYSHPQYTAY NEAWRFSNPA LLMPPPGAPP LPLLPLPMTA TSYRGDHIKL 
QADSFGLHIV PV

Genular Protein ID: 528339662

Symbol: A0A9L9PYK3_HUMAN

Name: N/A

UniProtKB Accession Codes:

A0A9L9PYK3

Database IDs:

ARBA 7 CDD 1 CTD 1 EMBL 2 Ensembl 2 GO 3 Gene3D 1 GeneTree 1 HGNC 1 InterPro 6 NCBI Taxonomy 1 PANTHER 2 PRINTS 1 PROSITE 3 PeptideAtlas 2 Pfam 2 Proteomes 2 ProteomicsDB 1 RefSeq 1 SAM 1 SMART 1 SMR 1 SUPFAM 1

Citations:

PubMed ID: 11237011

Title: Initial sequencing and analysis of the human genome.

PubMed ID: 11237011

DOI: 10.1038/35057062

PubMed ID: 15164054

Title: The DNA sequence and comparative analysis of human chromosome 10.

PubMed ID: 15164054

DOI: 10.1038/nature02462

PubMed ID: 15496913

Title: Finishing the euchromatic sequence of the human genome.

PubMed ID: 15496913

DOI: 10.1038/nature03001

Sequence Information:

  • Length: 425
  • Mass: 45321
  • Checksum: 49AB7B59039263AD
  • Sequence:
    • MEERAGPAVL KLSLRGDTAA AAALLPLLCL PMDMHCKADP FSAMHPGHGG VNQLGGVFVN 
GRPLPDVVRQ RIVELAHQGV RPCDISRQLR VSHGCVSKIL GRYYETGSIK PGVIGGSKPK 
VATPKVVDKI AEYKRQNPTM FAWEIRDRLL AEGICDNDTV PSVSSINRII RTKVQQPFHP 
TPDGAGTGVT APGHTIVPST ASPPVSSASN DPVGSYSING ILGIPRSNGE KRKRDEDVSE 
GSVPNGDSQS GVDSLRKHLR ADTFTQQQLE ALDRVFERPS YPDVFQASEH IKSEQGNEYS 
LPALTPGLDE VKSSLSASTN PELGSNVSGT QTYPVVTGRD MASTTLPGYP PHVPPTGQGS 
YPTSTLAGMV PGSEFSGNPY SHPQYTAYNE AWRFSNPALL SSPYYYSAAP RGSAPAAAAA 
AYDRH

Genular Protein ID: 2279990029

Symbol: Q5SZP1_HUMAN

Name: N/A

UniProtKB Accession Codes:

Q5SZP1

Database IDs:

ARBA 7 Antibodypedia 1 Bgee 1 CDD 1 CTD 1 ChiTaRS 1 DisGeNET 1 EMBL 4 Ensembl 2 GO 3 Gene3D 1 GeneTree 1 HGNC 1 HOGENOM 1 InterPro 6 NCBI Taxonomy 1 PANTHER 2 PRINTS 1 PROSITE 3 PeptideAtlas 1 Pfam 2 Proteomes 2 ProteomicsDB 2 RefSeq 1 SAM 1 SMART 1 SUPFAM 1 UCSC 1 VEuPathDB 1

Citations:

PubMed ID: 11237011

Title: Initial sequencing and analysis of the human genome.

PubMed ID: 11237011

DOI: 10.1038/35057062

PubMed ID: 11181995

Title: The sequence of the human genome.

PubMed ID: 11181995

DOI: 10.1126/science.1058040

PubMed ID: 15164054

Title: The DNA sequence and comparative analysis of human chromosome 10.

PubMed ID: 15164054

DOI: 10.1038/nature02462

PubMed ID: 15496913

Title: Finishing the euchromatic sequence of the human genome.

PubMed ID: 15496913

DOI: 10.1038/nature03001

Sequence Information:

  • Length: 409
  • Mass: 43851
  • Checksum: A3C4F052D7BA3E26
  • Sequence:
    • MDMHCKADPF SAMHPGHGGV NQLGGVFVNG RPLPDVVRQR IVELAHQGVR PCDISRQLRV 
SHGCVSKILG RYYETGSIKP GVIGGSKPKV ATPKVVDKIA EYKRQNPTMF AWEIRDRLLA 
EGICDNDTVP SVSSINRIIR TKVQQPFHPT PDGAGTGVTA PGHTIVPSTA SPPVSSASND 
PVGSYSINGI LGIPRSNGEK RKRDEDVSEG SVPNGDSQSG VDSLRKHLRA DTFTQQQLEA 
LDRVFERPSY PDVFQASEHI KSEQGNEYSL PALTPGLDEV KSSLSASTNP ELGSNVSGTQ 
TYPVVTGRDM ASTTLPGYPP HVPPTGQGSY PTSTLAGMVP GSEFSGNPYS HPQYTAYNEA 
WRFSNPALLM PPPGAPPLPL LPLPMTATSY RGDHIKLQAD SFGLHIVPV

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.