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Entry version 202 (08 May 2019)
Sequence version 4 (10 Feb 2009)
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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

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the ‘protein existence’ evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>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

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

GO - Biological processi

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Molecular functionDevelopmental protein, DNA-binding
Biological processDifferentiation, Transcription, Transcription regulation

Enzyme and pathway databases

SignaLink: a signaling pathway resource with multi-layered regulatory networks

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SignaLinki
Q02962

SIGNOR Signaling Network Open Resource

More...
SIGNORi
Q02962

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Paired box protein Pax-2
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: ‘Name’, ‘Synonyms’, ‘Ordered locus names’ and ‘ORF names’.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:PAX2
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the ‘taxonomic identifier’ or ‘taxid’.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes_manual">proteome</a> can consist of several components. <br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 10

Organism-specific databases

Human Gene Nomenclature Database

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HGNCi
HGNC:8616 PAX2

Online Mendelian Inheritance in Man (OMIM)

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MIMi
167409 gene

neXtProt; the human protein knowledge platform

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neXtProti
NX_Q02962

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte & Seán O’Donoghue; Source: COMPARTMENTS

Keywords - Cellular componenti

Nucleus

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the ‘Pathology and Biotech’ section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseasei

Papillorenal syndrome (PAPRS)6 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.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_0719372D → G in PAPRS. 1 Publication1
Natural variantiVAR_06808025G → V in PAPRS. 1 Publication1
Natural variantiVAR_06808133L → R in PAPRS. 1 Publication1
Natural variantiVAR_01244239 – 40Missing in PAPRS; the patient manifests oligomeganephronia and bilateral optic nerve coloboma. 1 Publication2
Natural variantiVAR_06808261S → I in PAPRS. 1 Publication1
Natural variantiVAR_06808361S → N in PAPRS. 1 Publication1
Natural variantiVAR_06808462 – 66Missing in PAPRS. 1 Publication5
Natural variantiVAR_06808569L → P in PAPRS. 1 Publication1
Natural variantiVAR_06808671R → T in PAPRS. 1 PublicationCorresponds to variant dbSNP:rs104894170EnsemblClinVar.1
Natural variantiVAR_00378875T → TET in PAPRS. 1
Natural variantiVAR_06808775T → TT in PAPRS. 1 Publication1
Natural variantiVAR_00378976G → S in PAPRS. 1 PublicationCorresponds to variant dbSNP:rs79555199EnsemblClinVar.1
Natural variantiVAR_06808884G → GSIKPGVIG in PAPRS. 1 Publication1
Natural variantiVAR_06808984G → S in PAPRS. 1 Publication1
Natural variantiVAR_068090117R → P in PAPRS. 1 Publication1
Natural variantiVAR_068091130P → H in PAPRS. 1 Publication1
Natural variantiVAR_068092130P → S in PAPRS. 1 Publication1
Natural variantiVAR_071941139I → V in PAPRS. 1 Publication1
Natural variantiVAR_071944295A → V in PAPRS. 1 PublicationCorresponds to variant dbSNP:rs1403345811Ensembl.1
Natural variantiVAR_071945296L → P in PAPRS. 1 Publication1
Natural variantiVAR_071946298P → S in PAPRS. 1 PublicationCorresponds to variant dbSNP:rs893370744Ensembl.1
Natural variantiVAR_071947329T → A in PAPRS. 1 Publication1
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.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_07193856R → Q in FSGS7; decreased DNA-binding capability and transactivation ability. 1 PublicationCorresponds to variant dbSNP:rs587777708EnsemblClinVar.1
Natural variantiVAR_07193980P → L in FSGS7; decreased DNA-binding capability and transactivation ability. 1 Publication1
Natural variantiVAR_071940133S → F in FSGS7; decreased DNA-binding capability and transactivation ability. 1 Publication1
Natural variantiVAR_071942150T → A in FSGS7. 1 PublicationCorresponds to variant dbSNP:rs1201078720Ensembl.1
Natural variantiVAR_068094164T → N in FSGS7. 2 PublicationsCorresponds to variant dbSNP:rs370214925Ensembl.1
Natural variantiVAR_071943189G → R in FSGS7; transactivation activity is dramatically decreased in presence of TLE4; dramatically enhances interaction with TLE4. 1 PublicationCorresponds to variant dbSNP:rs1131692055EnsemblClinVar.1

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNET

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DisGeNETi
5076

GeneReviews a resource of expert-authored, peer-reviewed disease descriptions.

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GeneReviewsi
PAX2

MalaCards human disease database

More...
MalaCardsi
PAX2
MIMi120330 phenotype
616002 phenotype

Open Targets

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OpenTargetsi
ENSG00000075891

Orphanet; a database dedicated to information on rare diseases and orphan drugs

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Orphaneti
93213 Familial idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis
1475 Renal coloboma syndrome
97362 Renal hypoplasia, bilateral

The Pharmacogenetics and Pharmacogenomics Knowledge Base

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PharmGKBi
PA32956

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

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BioMutai
PAX2

Domain mapping of disease mutations (DMDM)

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DMDMi
223590261

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00000501751 – 417Paired box protein Pax-2Add BLAST417

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei226PhosphothreonineCombined sources1

Keywords - PTMi

Phosphoprotein

Proteomic databases

MaxQB - The MaxQuant DataBase

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MaxQBi
Q02962

PaxDb, a database of protein abundance averages across all three domains of life

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PaxDbi
Q02962

PeptideAtlas

More...
PeptideAtlasi
Q02962

PRoteomics IDEntifications database

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PRIDEi
Q02962

ProteomicsDB human proteome resource

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ProteomicsDBi
58144
58145 [Q02962-2]
58146 [Q02962-3]
58147 [Q02962-4]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

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iPTMneti
Q02962

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

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PhosphoSitePlusi
Q02962

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

<p>This subsection of the ‘Expression’ section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified ‘at protein level’. <br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityi

Expressed in primitive cells of the kidney, ureter, eye, ear and central nervous system.

<p>This subsection of the ‘Expression’ section provides information on the expression of the gene product at various stages of a cell, tissue or organism development. By default, the information is derived from experiments at the mRNA level, unless specified ‘at the protein level’.<p><a href='/help/developmental_stage' target='_top'>More...</a></p>Developmental stagei

Mainly in fetal kidney and juvenile nephrogenic rests.

Gene expression databases

Bgee dataBase for Gene Expression Evolution

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Bgeei
ENSG00000075891 Expressed in 64 organ(s), highest expression level in cortex of kidney

ExpressionAtlas, Differential and Baseline Expression

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ExpressionAtlasi
Q02962 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

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Genevisiblei
Q02962 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
CAB013024
HPA047704
HPA070751

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction_section">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function_section">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

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

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction_section%27">Interaction</a> section provides information about binary protein-protein interactions. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the <a href="http://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated on a monthly basis. Each binary interaction is displayed on a separate line.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

WithEntry#Exp.IntActNotes
LMX1BO60663-23EBI-1805765,EBI-10258690

GO - Molecular functioni

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

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BioGridi
111110, 22 interactors

Protein interaction database and analysis system

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IntActi
Q02962, 18 interactors

Molecular INTeraction database

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MINTi
Q02962

STRING: functional protein association networks

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STRINGi
9606.ENSP00000359319

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

3D structure databases

SWISS-MODEL Repository - a database of annotated 3D protein structure models

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SMRi
Q02962

Database of comparative protein structure models

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ModBasei
Search...

MobiDB: a database of protein disorder and mobility annotations

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MobiDBi
Search...

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/family_and_domains_section">Family and Domains</a> section describes the position and type of a domain, which is defined as a specific combination of secondary structures organized into a characteristic three-dimensional structure or fold.<p><a href='/help/domain' target='_top'>More...</a></p>Domaini16 – 142PairedPROSITE-ProRule annotationAdd BLAST127

Keywords - Domaini

Paired box

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

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eggNOGi
KOG3862 Eukaryota
ENOG410ZT0S LUCA

Ensembl GeneTree

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GeneTreei
ENSGT00940000157412

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

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HOGENOMi
HOG000230938

InParanoid: Eukaryotic Ortholog Groups

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InParanoidi
Q02962

KEGG Orthology (KO)

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KOi
K15608

Identification of Orthologs from Complete Genome Data

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OMAi
HAHGPCY

Database of Orthologous Groups

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OrthoDBi
1647595at2759

Database for complete collections of gene phylogenies

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PhylomeDBi
Q02962

TreeFam database of animal gene trees

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TreeFami
TF315397

Family and domain databases

Conserved Domains Database

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CDDi
cd00131 PAX, 1 hit

Gene3D Structural and Functional Annotation of Protein Families

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Gene3Di
1.10.10.10, 2 hits

Integrated resource of protein families, domains and functional sites

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InterProi
View protein in InterPro
IPR009057 Homeobox-like_sf
IPR001523 Paired_dom
IPR022130 Pax2_C
IPR036388 WH-like_DNA-bd_sf

Pfam protein domain database

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Pfami
View protein in Pfam
PF00292 PAX, 1 hit
PF12403 Pax2_C, 1 hit

Protein Motif fingerprint database; a protein domain database

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PRINTSi
PR00027 PAIREDBOX

Simple Modular Architecture Research Tool; a protein domain database

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SMARTi
View protein in SMART
SM00351 PAX, 1 hit

Superfamily database of structural and functional annotation

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SUPFAMi
SSF46689 SSF46689, 1 hit

PROSITE; a protein domain and family database

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PROSITEi
View protein in PROSITE
PS00034 PAIRED_1, 1 hit
PS51057 PAIRED_2, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (4+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

This entry describes 4 <p>This subsection of the ‘Sequence’ section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 4 described isoforms and 3 potential isoforms that are computationally mapped.Show allAlign All

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
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> 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

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There are 3 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
G3V5S4G3V5S4_HUMAN
Paired box protein Pax-2
PAX2
304Annotation score:

Annotation score:2 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
Q5SZP1Q5SZP1_HUMAN
Paired box protein Pax-2
PAX2
214Annotation score:

Annotation score:2 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A0A0MRH7A0A0A0MRH7_HUMAN
Paired box protein Pax-2
PAX2
393Annotation score:

Annotation score:2 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>Sequence conflicti15 – 16PG → R in AAC41711 (PubMed:7981748).Curated2
Sequence conflicti404Missing in AAA60024 (PubMed:1378753).Curated1
Sequence conflicti404Missing in AAC63385 (PubMed:8661132).Curated1
Sequence conflicti410A → R in AAA60024 (PubMed:1378753).Curated1
Sequence conflicti410A → R in AAC63385 (PubMed:8661132).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_0719372D → G in PAPRS. 1 Publication1
Natural variantiVAR_06807924G → E Probable disease-associated mutation found in a patient with non-syndromic renal hypodysplasia. 1 PublicationCorresponds to variant dbSNP:rs201239919Ensembl.1
Natural variantiVAR_06808025G → V in PAPRS. 1 Publication1
Natural variantiVAR_06808133L → R in PAPRS. 1 Publication1
Natural variantiVAR_01244239 – 40Missing in PAPRS; the patient manifests oligomeganephronia and bilateral optic nerve coloboma. 1 Publication2
Natural variantiVAR_07193856R → Q in FSGS7; decreased DNA-binding capability and transactivation ability. 1 PublicationCorresponds to variant dbSNP:rs587777708EnsemblClinVar.1
Natural variantiVAR_06808261S → I in PAPRS. 1 Publication1
Natural variantiVAR_06808361S → N in PAPRS. 1 Publication1
Natural variantiVAR_06808462 – 66Missing in PAPRS. 1 Publication5
Natural variantiVAR_06808569L → P in PAPRS. 1 Publication1
Natural variantiVAR_06808671R → T in PAPRS. 1 PublicationCorresponds to variant dbSNP:rs104894170EnsemblClinVar.1
Natural variantiVAR_00378875T → TET in PAPRS. 1
Natural variantiVAR_06808775T → TT in PAPRS. 1 Publication1
Natural variantiVAR_00378976G → S in PAPRS. 1 PublicationCorresponds to variant dbSNP:rs79555199EnsemblClinVar.1
Natural variantiVAR_07193980P → L in FSGS7; decreased DNA-binding capability and transactivation ability. 1 Publication1
Natural variantiVAR_06808884G → GSIKPGVIG in PAPRS. 1 Publication1
Natural variantiVAR_06808984G → S in PAPRS. 1 Publication1
Natural variantiVAR_068090117R → P in PAPRS. 1 Publication1
Natural variantiVAR_068091130P → H in PAPRS. 1 Publication1
Natural variantiVAR_068092130P → S in PAPRS. 1 Publication1
Natural variantiVAR_071940133S → F in FSGS7; decreased DNA-binding capability and transactivation ability. 1 Publication1
Natural variantiVAR_071941139I → V in PAPRS. 1 Publication1
Natural variantiVAR_071942150T → A in FSGS7. 1 PublicationCorresponds to variant dbSNP:rs1201078720Ensembl.1
Natural variantiVAR_068093160A → T1 PublicationCorresponds to variant dbSNP:rs201383632Ensembl.1
Natural variantiVAR_068094164T → N in FSGS7. 2 PublicationsCorresponds to variant dbSNP:rs370214925Ensembl.1
Natural variantiVAR_068095175S → T1 Publication1
Natural variantiVAR_071943189G → R in FSGS7; transactivation activity is dramatically decreased in presence of TLE4; dramatically enhances interaction with TLE4. 1 PublicationCorresponds to variant dbSNP:rs1131692055EnsemblClinVar.1
Natural variantiVAR_071944295A → V in PAPRS. 1 PublicationCorresponds to variant dbSNP:rs1403345811Ensembl.1
Natural variantiVAR_071945296L → P in PAPRS. 1 Publication1
Natural variantiVAR_071946298P → S in PAPRS. 1 PublicationCorresponds to variant dbSNP:rs893370744Ensembl.1
Natural variantiVAR_071947329T → A in PAPRS. 1 Publication1
Natural variantiVAR_012443334A → V2 PublicationsCorresponds to variant dbSNP:rs78738655Ensembl.1
Natural variantiVAR_068096387S → N Found in a patient with bilateral optic nerve colobomas; uncertain pathological significance. 1 PublicationCorresponds to variant dbSNP:rs138490772EnsemblClinVar.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_002345206 – 228Missing in isoform 3 and isoform 4. 2 PublicationsAdd BLAST23
Alternative sequenceiVSP_002346364 – 417GSEFS…AYDRH → EAAVGPSSSLMSKPGRKLAE VPPCVQPTGASSPATRTATP STRPTTRLGDSATPPY in isoform 2 and isoform 4. 1 PublicationAdd BLAST54

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

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EMBLi

GenBank nucleotide sequence database

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GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

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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 Genomic DNA No translation available.
AL589862 Genomic DNA No translation available.
CH471066 Genomic DNA Translation: EAW49812.1
CH471066 Genomic DNA Translation: EAW49813.1
L09747, L09748, L09746 Genomic DNA Translation: AAC41711.1

The Consensus CDS (CCDS) project

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CCDSi
CCDS41561.1 [Q02962-3]
CCDS7499.1 [Q02962-4]

Protein sequence database of the Protein Information Resource

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PIRi
A49008

NCBI Reference Sequences

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RefSeqi
NP_000269.3, NM_000278.4 [Q02962-3]
NP_001291498.1, NM_001304569.1
NP_003978.3, NM_003987.4 [Q02962-1]
NP_003979.2, NM_003988.4 [Q02962-4]
NP_003980.3, NM_003989.4
NP_003981.3, NM_003990.4

Genome annotation databases

Ensembl eukaryotic genome annotation project

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Ensembli
ENST00000355243; ENSP00000347385; ENSG00000075891 [Q02962-3]
ENST00000370296; ENSP00000359319; ENSG00000075891 [Q02962-4]
ENST00000428433; ENSP00000396259; ENSG00000075891 [Q02962-1]

Database of genes from NCBI RefSeq genomes

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GeneIDi
5076

KEGG: Kyoto Encyclopedia of Genes and Genomes

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KEGGi
hsa:5076

UCSC genome browser

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UCSCi
uc001krl.4 human [Q02962-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

<p>This subsection of the <a href="http://www.uniprot.org/manual/cross_references_section">Cross-references</a> section provides links to various web resources that are relevant for a specific protein.<p><a href='/help/web_resource' target='_top'>More...</a></p>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 Genomic DNA No translation available.
AL589862 Genomic DNA No translation available.
CH471066 Genomic DNA Translation: EAW49812.1
CH471066 Genomic DNA Translation: EAW49813.1
L09747, L09748, L09746 Genomic DNA Translation: AAC41711.1
CCDSiCCDS41561.1 [Q02962-3]
CCDS7499.1 [Q02962-4]
PIRiA49008
RefSeqiNP_000269.3, NM_000278.4 [Q02962-3]
NP_001291498.1, NM_001304569.1
NP_003978.3, NM_003987.4 [Q02962-1]
NP_003979.2, NM_003988.4 [Q02962-4]
NP_003980.3, NM_003989.4
NP_003981.3, NM_003990.4

3D structure databases

SMRiQ02962
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi111110, 22 interactors
IntActiQ02962, 18 interactors
MINTiQ02962
STRINGi9606.ENSP00000359319

PTM databases

iPTMnetiQ02962
PhosphoSitePlusiQ02962

Polymorphism and mutation databases

BioMutaiPAX2
DMDMi223590261

Proteomic databases

MaxQBiQ02962
PaxDbiQ02962
PeptideAtlasiQ02962
PRIDEiQ02962
ProteomicsDBi58144
58145 [Q02962-2]
58146 [Q02962-3]
58147 [Q02962-4]

Protocols and materials databases

The DNASU plasmid repository

More...
DNASUi
5076
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000355243; ENSP00000347385; ENSG00000075891 [Q02962-3]
ENST00000370296; ENSP00000359319; ENSG00000075891 [Q02962-4]
ENST00000428433; ENSP00000396259; ENSG00000075891 [Q02962-1]
GeneIDi5076
KEGGihsa:5076
UCSCiuc001krl.4 human [Q02962-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
5076
DisGeNETi5076

GeneCards: human genes, protein and diseases

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GeneCardsi
PAX2
GeneReviewsiPAX2
HGNCiHGNC:8616 PAX2
HPAiCAB013024
HPA047704
HPA070751
MalaCardsiPAX2
MIMi120330 phenotype
167409 gene
616002 phenotype
neXtProtiNX_Q02962
OpenTargetsiENSG00000075891
Orphaneti93213 Familial idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis
1475 Renal coloboma syndrome
97362 Renal hypoplasia, bilateral
PharmGKBiPA32956

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG3862 Eukaryota
ENOG410ZT0S LUCA
GeneTreeiENSGT00940000157412
HOGENOMiHOG000230938
InParanoidiQ02962
KOiK15608
OMAiHAHGPCY
OrthoDBi1647595at2759
PhylomeDBiQ02962
TreeFamiTF315397

Enzyme and pathway databases

SignaLinkiQ02962
SIGNORiQ02962

Miscellaneous databases

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

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ChiTaRSi
PAX2 human

The Gene Wiki collection of pages on human genes and proteins

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GeneWikii
PAX2

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

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GenomeRNAii
5076

Protein Ontology

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PROi
PR:Q02962

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

BgeeiENSG00000075891 Expressed in 64 organ(s), highest expression level in cortex of kidney
ExpressionAtlasiQ02962 baseline and differential
GenevisibleiQ02962 HS

Family and domain databases

CDDicd00131 PAX, 1 hit
Gene3Di1.10.10.10, 2 hits
InterProiView protein in InterPro
IPR009057 Homeobox-like_sf
IPR001523 Paired_dom
IPR022130 Pax2_C
IPR036388 WH-like_DNA-bd_sf
PfamiView protein in Pfam
PF00292 PAX, 1 hit
PF12403 Pax2_C, 1 hit
PRINTSiPR00027 PAIREDBOX
SMARTiView protein in SMART
SM00351 PAX, 1 hit
SUPFAMiSSF46689 SSF46689, 1 hit
PROSITEiView protein in PROSITE
PS00034 PAIRED_1, 1 hit
PS51057 PAIRED_2, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

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ProtoNeti
Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the ‘Entry information’ section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiPAX2_HUMAN
<p>This subsection of the ‘Entry information’ section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called ‘Primary (citable) accession number’.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: Q02962
Secondary accession number(s): Q15105
, Q15110, Q15837, Q5SZP2, Q5SZP3
<p>This subsection of the ‘Entry information’ section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification (‘Last modified’). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: July 1, 1993
Last sequence update: February 10, 2009
Last modified: May 8, 2019
This is version 202 of the entry and version 4 of the sequence. See complete history.
<p>This subsection of the ‘Entry information’ section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>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.

<p>This section contains any relevant information that doesn’t fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>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
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