PAX2 paired box 2 [Homo sapiens (human)] - Gene

Summary

Official Symbol: PAX2provided by HGNC
Official Full Name: paired box 2provided by HGNC
Primary source: HGNC:HGNC:8616
See related: Ensembl:ENSG00000075891 MIM:167409
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: FSGS7; PAPRS
Summary: 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]
Expression: Restricted expression toward kidney (RPKM 4.2) See more
Orthologs: mouse all
NEW: Try the new Gene table
Try the new Transcript table

Genomic context

Location:: 10q24.31

Exon count:: 14

Annotation release	Status	Assembly	Chr	Location
109.20210226	current	GRCh38.p13 (GCF_000001405.39)	10	NC_000010.11 (100735396..100829944)
105.20201022	previous assembly	GRCh37.p13 (GCF_000001405.25)	10	NC_000010.10 (102495153..102589701)

Chromosome 10 - NC_000010.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

Go to the top of the page Help

Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

Go to the top of the page Help

See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

Go to the top of the page Help

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Clinical and genetic variability of PAX2-related disorder in the Japanese population.
Title: Clinical and genetic variability of PAX2-related disorder in the Japanese population.
Pax2 and Pax8 Proteins Regulate Urea Transporters and Aquaporins to Control Urine Concentration in the Adult Kidney.
Title: Pax2 and Pax8 Proteins Regulate Urea Transporters and Aquaporins to Control Urine Concentration in the Adult Kidney.
The proapoptotic gene interferon regulatory factor-1 mediates the antiproliferative outcome of paired box 2 gene and tamoxifen.
Title: The proapoptotic gene interferon regulatory factor-1 mediates the antiproliferative outcome of paired box 2 gene and tamoxifen.
PAX2 promotes epithelial ovarian cancer progression involving fatty acid metabolic reprogramming.
Title: PAX2 promotes epithelial ovarian cancer progression involving fatty acid metabolic reprogramming.
Study findings demonstrate high frequency of PAX2 mutations in familial form of steroid-resistant nephrotic syndrome and further expand the phenotypic spectrum of PAX2 heterozygous mutations to include autosomal dominant childhood-onset focal segmental glomerulosclerosis.
Title: Dominant PAX2 mutations may cause steroid-resistant nephrotic syndrome and FSGS in children.
Suppression of PAX2 inhibits the growth of the OVACAR-3 cells while PAX2 overexpression could avoid the growth inhibitory effects of miR-375 in OVACAR-3 cells.
Title: MicroRNA-375 inhibits the growth, drug sensitivity and metastasis of human ovarian cancer cells by targeting PAX2.
Our findings suggest that ASH2L participates in the promotion of endometrial cancer progression, if not totally at least partially, via upregulation of PAX2 transcription.
Title: ASH2L is involved in promotion of endometrial cancer progression via upregulation of PAX2 transcription.
we found miR-744-5p had reduced expression in NSCLC cell lines. Further functional experiments revealed miR-744-5p directly targets PAX2 to exert a tumor suppressive role in NSCLC.
Title: miR-744-5p Inhibits Non-Small Cell Lung Cancer Proliferation and Invasion by Directly Targeting PAX2.
Our results provide evidence that CP-31398 could inhibit EMT and promote apoptosis of cervical cancer cells to curb cervical cancer tumor growth by downregulating PAX2.
Title: CP-31398 inhibits the progression of cervical cancer through reversing the epithelial mesenchymal transition via the downregulation of PAX2s.
Diagnostic Utility of Pax8, Pax2, and NGFR Immunohistochemical Expression in Pediatric Renal Tumors.
Title: Diagnostic Utility of Pax8, Pax2, and NGFR Immunohistochemical Expression in Pediatric Renal Tumors.

Submit: New GeneRIF Correction See all GeneRIFs (122)

Phenotypes

Go to the top of the page Help

Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Anophthalmia-microphthalmia syndrome MedGen: CN120488 GeneReviews: Microphthalmia/Anophthalmia/Coloboma Spectrum	Compare labs
Focal segmental glomerulosclerosis 7 MedGen: C4014925 OMIM: 616002 GeneReviews: Not available	Compare labs
Genome-wide scan of copy number variation in late-onset Alzheimer's disease. GeneReviews: Not available
Renal coloboma syndrome MedGen: C1852759 OMIM: 120330 GeneReviews: PAX2-Related Disorder	Compare labs

Copy number response

Description
Copy number response Triplosensitivity No evidence available (Last evaluated 2020-02-26) ClinGen Genome Curation Page Haploinsufficency Sufficient evidence for dosage pathogenicity (Last evaluated 2020-02-26) ClinGen Genome Curation PagePubMed

Variation

Go to the top of the page Help

See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

Go to the top of the page Help

Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

Go to the top of the page Help

Markers

RH80285 (e-PCR)
- UniSTS:88437

D10S2478 (e-PCR)
- UniSTS:74159

D10S278 (e-PCR)
- UniSTS:147948

NoName (e-PCR)
- UniSTS:482033

Homology

Homologs of the PAX2 gene: The PAX2 gene is conserved in chimpanzee, Rhesus monkey, dog, cow, mouse, rat, chicken, and zebrafish.
Orthologs from Annotation Pipeline: 313 organisms have orthologs with human gene PAX2
Orthologs

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
DNA binding	IDA Inferred from Direct Assay more info	PubMed
DNA binding	ISS Inferred from Sequence or Structural Similarity more info
DNA-binding transcription factor activity	IMP Inferred from Mutant Phenotype more info	PubMed
DNA-binding transcription factor activity, RNA polymerase II-specific	IBA Inferred from Biological aspect of Ancestor more info	PubMed
DNA-binding transcription factor activity, RNA polymerase II-specific	ISA Inferred from Sequence Alignment more info
RNA polymerase II cis-regulatory region sequence-specific DNA binding	IBA Inferred from Biological aspect of Ancestor more info	PubMed
cis-regulatory region sequence-specific DNA binding	IDA Inferred from Direct Assay more info	PubMed
protein binding	IPI Inferred from Physical Interaction more info	PubMed
sequence-specific double-stranded DNA binding	IDA Inferred from Direct Assay more info	PubMed
transcription factor binding	IPI Inferred from Physical Interaction more info	PubMed
transcription regulatory region sequence-specific DNA binding	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
aging	IEA Inferred from Electronic Annotation more info
anatomical structure development	IBA Inferred from Biological aspect of Ancestor more info	PubMed
axonogenesis	TAS Traceable Author Statement more info	PubMed
brain morphogenesis	ISS Inferred from Sequence or Structural Similarity more info
branching involved in ureteric bud morphogenesis	IEP Inferred from Expression Pattern more info	PubMed
branching involved in ureteric bud morphogenesis	ISS Inferred from Sequence or Structural Similarity more info
camera-type eye development	ISS Inferred from Sequence or Structural Similarity more info
cell fate determination	ISS Inferred from Sequence or Structural Similarity more info
cellular response to epidermal growth factor stimulus	IEA Inferred from Electronic Annotation more info
cellular response to glucose stimulus	ISS Inferred from Sequence or Structural Similarity more info
cellular response to hydrogen peroxide	ISS Inferred from Sequence or Structural Similarity more info
cellular response to retinoic acid	ISS Inferred from Sequence or Structural Similarity more info
cochlea development	ISS Inferred from Sequence or Structural Similarity more info
cochlea morphogenesis	ISS Inferred from Sequence or Structural Similarity more info
glial cell differentiation	ISS Inferred from Sequence or Structural Similarity more info
inner ear morphogenesis	ISS Inferred from Sequence or Structural Similarity more info
mesenchymal to epithelial transition	ISS Inferred from Sequence or Structural Similarity more info
mesenchymal to epithelial transition involved in metanephros morphogenesis	ISS Inferred from Sequence or Structural Similarity more info
mesodermal cell fate specification	ISS Inferred from Sequence or Structural Similarity more info
mesonephros development	ISS Inferred from Sequence or Structural Similarity more info
metanephric collecting duct development	ISS Inferred from Sequence or Structural Similarity more info
metanephric distal convoluted tubule development	ISS Inferred from Sequence or Structural Similarity more info
metanephric epithelium development	IEP Inferred from Expression Pattern more info	PubMed
metanephric mesenchymal cell differentiation	ISS Inferred from Sequence or Structural Similarity more info
metanephric mesenchyme development	ISS Inferred from Sequence or Structural Similarity more info
metanephric nephron tubule formation	ISS Inferred from Sequence or Structural Similarity more info
negative regulation of apoptotic process	IDA Inferred from Direct Assay more info	PubMed
negative regulation of apoptotic process	IMP Inferred from Mutant Phenotype more info	PubMed
negative regulation of apoptotic process involved in metanephric collecting duct development	ISS Inferred from Sequence or Structural Similarity more info
negative regulation of apoptotic process involved in metanephric nephron tubule development	ISS Inferred from Sequence or Structural Similarity more info
negative regulation of cysteine-type endopeptidase activity involved in apoptotic process	IDA Inferred from Direct Assay more info	PubMed
negative regulation of mesenchymal cell apoptotic process involved in metanephric nephron morphogenesis	ISS Inferred from Sequence or Structural Similarity more info
negative regulation of mesenchymal cell apoptotic process involved in metanephros development	ISS Inferred from Sequence or Structural Similarity more info
negative regulation of programmed cell death	ISS Inferred from Sequence or Structural Similarity more info
negative regulation of reactive oxygen species metabolic process	IDA Inferred from Direct Assay more info	PubMed
negative regulation of transcription, DNA-templated	IMP Inferred from Mutant Phenotype more info	PubMed
nephric duct formation	ISS Inferred from Sequence or Structural Similarity more info
neural tube closure	ISS Inferred from Sequence or Structural Similarity more info
optic chiasma development	ISS Inferred from Sequence or Structural Similarity more info
optic cup morphogenesis involved in camera-type eye development	ISS Inferred from Sequence or Structural Similarity more info
optic nerve development	ISS Inferred from Sequence or Structural Similarity more info
optic nerve morphogenesis	ISS Inferred from Sequence or Structural Similarity more info
optic nerve structural organization	ISS Inferred from Sequence or Structural Similarity more info
positive regulation of branching involved in ureteric bud morphogenesis	ISS Inferred from Sequence or Structural Similarity more info
positive regulation of epithelial cell proliferation	IDA Inferred from Direct Assay more info	PubMed
positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis	ISS Inferred from Sequence or Structural Similarity more info
positive regulation of metanephric DCT cell differentiation	ISS Inferred from Sequence or Structural Similarity more info
positive regulation of metanephric glomerulus development	ISS Inferred from Sequence or Structural Similarity more info
positive regulation of optic nerve formation	ISS Inferred from Sequence or Structural Similarity more info
positive regulation of transcription by RNA polymerase II	IDA Inferred from Direct Assay more info	PubMed
positive regulation of transcription by RNA polymerase II	ISS Inferred from Sequence or Structural Similarity more info
positive regulation of transcription, DNA-templated	IDA Inferred from Direct Assay more info	PubMed
positive regulation of transcription, DNA-templated	IMP Inferred from Mutant Phenotype more info	PubMed
positive regulation of transcription, DNA-templated	ISS Inferred from Sequence or Structural Similarity more info
pronephric field specification	ISS Inferred from Sequence or Structural Similarity more info
pronephros development	ISS Inferred from Sequence or Structural Similarity more info
protein kinase B signaling	ISS Inferred from Sequence or Structural Similarity more info
reactive oxygen species metabolic process	ISS Inferred from Sequence or Structural Similarity more info
regulation of metanephric nephron tubule epithelial cell differentiation	ISS Inferred from Sequence or Structural Similarity more info
regulation of metanephros size	IMP Inferred from Mutant Phenotype more info	PubMed
regulation of transcription by RNA polymerase II	IBA Inferred from Biological aspect of Ancestor more info	PubMed
response to nutrient levels	IEA Inferred from Electronic Annotation more info
retinal pigment epithelium development	ISS Inferred from Sequence or Structural Similarity more info
stem cell differentiation	ISS Inferred from Sequence or Structural Similarity more info
ureter development	ISS Inferred from Sequence or Structural Similarity more info
ureter maturation	ISS Inferred from Sequence or Structural Similarity more info
urogenital system development	ISS Inferred from Sequence or Structural Similarity more info
vestibulocochlear nerve formation	ISS Inferred from Sequence or Structural Similarity more info
visual perception	TAS Traceable Author Statement more info	PubMed

Component	Evidence Code	Pubs
centriolar satellite	IDA Inferred from Direct Assay more info	PubMed
chromatin	ISA Inferred from Sequence Alignment more info
lysosome	IEA Inferred from Electronic Annotation more info
microtubule organizing center	IDA Inferred from Direct Assay more info	PubMed
nucleoplasm	IDA Inferred from Direct Assay more info
nucleus	IDA Inferred from Direct Assay more info	PubMed
protein-DNA complex	ISS Inferred from Sequence or Structural Similarity more info
protein-containing complex	ISS Inferred from Sequence or Structural Similarity more info

General protein information

Go to the top of the page Help

Preferred Names: paired box protein Pax-2

Names: paired box homeotic gene 2

NCBI Reference Sequences (RefSeq)

Go to the top of the page Help

NEW Try the new Transcript table

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_008680.2 RefSeqGene

Range

14874..99236

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_000278.5 → NP_000269.3 paired box protein Pax-2 isoform b

Status: REVIEWED

Source sequence(s)

AL138762, AL589862, M89470

Consensus CDS

CCDS41561.1

UniProtKB/Swiss-Prot

Q02962

Related

ENSP00000347385.2, ENST00000355243.7

Conserved Domains (3) summary

smart00351
Location:16 → 140

PAX; Paired Box domain

pfam12403
Location:282 → 392

Pax2_C; Paired-box protein 2 C terminal

cl00084
Location:232 → 255

homeodomain; Homeodomain; DNA binding domains involved in the transcriptional regulation of key eukaryotic developmental processes; may bind to DNA as monomers or as homo- and/or heterodimers, in a sequence-specific manner.
NM_001304569.2 → NP_001291498.1 paired box protein Pax-2 isoform f

See identical proteins and their annotated locations for NP_001291498.1

Status: REVIEWED

Source sequence(s)

AL138762, AL589862, BJ989901, DB077633, M89470

UniProtKB/Swiss-Prot

Q02962

Related

ENSP00000506041.1, ENST00000679374.1

Conserved Domains (3) summary

smart00351
Location:47 → 171

PAX; Paired Box domain

pfam12403
Location:313 → 423

Pax2_C; Paired-box protein 2 C terminal

cl00084
Location:263 → 286

homeodomain; Homeodomain; DNA binding domains involved in the transcriptional regulation of key eukaryotic developmental processes; may bind to DNA as monomers or as homo- and/or heterodimers, in a sequence-specific manner.
NM_001374303.1 → NP_001361232.1 paired box protein Pax-2 isoform g

Status: REVIEWED

Source sequence(s)

AL589862
NM_003987.5 → NP_003978.3 paired box protein Pax-2 isoform a

Status: REVIEWED

Source sequence(s)

AL138762, AL589862

UniProtKB/Swiss-Prot

Q02962

Related

ENSP00000396259.1, ENST00000428433.5

Conserved Domains (3) summary

smart00351
Location:16 → 140

PAX; Paired Box domain

pfam12403
Location:305 → 415

Pax2_C; Paired-box protein 2 C terminal

cl00084
Location:255 → 278

homeodomain; Homeodomain; DNA binding domains involved in the transcriptional regulation of key eukaryotic developmental processes; may bind to DNA as monomers or as homo- and/or heterodimers, in a sequence-specific manner.
NM_003988.5 → NP_003979.2 paired box protein Pax-2 isoform c

See identical proteins and their annotated locations for NP_003979.2

Status: REVIEWED

Source sequence(s)

AL138762, AL589862, M89470

Consensus CDS

CCDS7499.1

UniProtKB/Swiss-Prot

Q02962

Related

ENSP00000359319.3, ENST00000370296.6

Conserved Domains (3) summary

smart00351
Location:16 → 140

PAX; Paired Box domain

pfam12403
Location:282 → 340

Pax2_C; Paired-box protein 2 C terminal

cl00084
Location:232 → 255

homeodomain; Homeodomain; DNA binding domains involved in the transcriptional regulation of key eukaryotic developmental processes; may bind to DNA as monomers or as homo- and/or heterodimers, in a sequence-specific manner.
NM_003989.5 → NP_003980.3 paired box protein Pax-2 isoform d

Status: REVIEWED

Source sequence(s)

AL138762, AL589862, M89470

UniProtKB/Swiss-Prot

Q02962

Related

ENSP00000398652.2, ENST00000427256.6

Conserved Domains (3) summary

smart00351
Location:16 → 140

PAX; Paired Box domain

pfam12403
Location:282 → 367

Pax2_C; Paired-box protein 2 C terminal

cl00084
Location:232 → 255

homeodomain; Homeodomain; DNA binding domains involved in the transcriptional regulation of key eukaryotic developmental processes; may bind to DNA as monomers or as homo- and/or heterodimers, in a sequence-specific manner.
NM_003990.5 → NP_003981.3 paired box protein Pax-2 isoform e

Status: REVIEWED

Source sequence(s)

AL138762, AL589862, M89470

UniProtKB/Swiss-Prot

Q02962

Conserved Domains (3) summary

smart00351
Location:16 → 140

PAX; Paired Box domain

pfam12403
Location:305 → 390

Pax2_C; Paired-box protein 2 C terminal

cl00084
Location:255 → 278

homeodomain; Homeodomain; DNA binding domains involved in the transcriptional regulation of key eukaryotic developmental processes; may bind to DNA as monomers or as homo- and/or heterodimers, in a sequence-specific manner.