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Entry version 186 (31 Jul 2019)
Sequence version 2 (25 Nov 2008)
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Protein

Paired box protein Pax-8

Gene

PAX8

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 for the thyroid-specific expression of the genes exclusively expressed in the thyroid cell type, maintaining the functional differentiation of such cells.

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/function_section">Function</a> section specifies the position and type of each DNA-binding domain present within the protein.<p><a href='/help/dna_bind' target='_top'>More...</a></p>DNA bindingi9 – 135PairedPROSITE-ProRule annotationAdd BLAST127

<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

SIGNOR Signaling Network Open Resource

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SIGNORi
Q06710

<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-8
<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:PAX8
<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 2

Organism-specific databases

Human Gene Nomenclature Database

More...
HGNCi
HGNC:8622 PAX8

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
167415 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q06710

<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

Hypothyroidism, congenital, non-goitrous, 2 (CHNG2)3 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA disease characterized by thyroid dysgenesis, the most frequent cause of congenital hypothyroidism, accounting for 85% of case. The thyroid gland can be completely absent (athyreosis), ectopically located and/or severely hypoplastic. Ectopic thyroid gland is the most frequent malformation, with thyroid tissue being found most often at the base of the tongue.
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_01276931R → H in CHNG2; loss of activity. 1 PublicationCorresponds to variant dbSNP:rs104893657EnsemblClinVar.1
Natural variantiVAR_01277040Q → P in CHNG2; loss of activity. 1 PublicationCorresponds to variant dbSNP:rs104893656EnsemblClinVar.1
Natural variantiVAR_01277157C → Y in CHNG2; loss of activity. 1 PublicationCorresponds to variant dbSNP:rs104893659EnsemblClinVar.1
Natural variantiVAR_01277262L → R in CHNG2; loss of activity. 1 PublicationCorresponds to variant dbSNP:rs104893658EnsemblClinVar.1

Keywords - Diseasei

Congenital hypothyroidism, Disease mutation

Organism-specific databases

DisGeNET

More...
DisGeNETi
7849

MalaCards human disease database

More...
MalaCardsi
PAX8
MIMi218700 phenotype

Open Targets

More...
OpenTargetsi
ENSG00000125618

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

More...
Orphaneti
95713 Athyreosis
146 Differentiated thyroid carcinoma
95712 Thyroid ectopia
95720 Thyroid hypoplasia

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA32962

Chemistry databases

ChEMBL database of bioactive drug-like small molecules

More...
ChEMBLi
CHEMBL2362980

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
PAX8

Domain mapping of disease mutations (DMDM)

More...
DMDMi
215273928

<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_00000501971 – 450Paired box protein Pax-8Add BLAST450

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 residuei303PhosphoserineBy similarity1

Keywords - PTMi

Phosphoprotein

Proteomic databases

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

More...
PaxDbi
Q06710

PeptideAtlas

More...
PeptideAtlasi
Q06710

PRoteomics IDEntifications database

More...
PRIDEi
Q06710

ProteomicsDB human proteome resource

More...
ProteomicsDBi
58470 [Q06710-1]
58471 [Q06710-2]
58472 [Q06710-3]
58473 [Q06710-4]
58474 [Q06710-5]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
Q06710

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

More...
PhosphoSitePlusi
Q06710

<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 the excretory system, thyroid gland and Wilms tumors.

<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

In developing excretory system, during thyroid differentiation and in adult thyroid.

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000125618 Expressed in 212 organ(s), highest expression level in right lobe of thyroid gland

ExpressionAtlas, Differential and Baseline Expression

More...
ExpressionAtlasi
Q06710 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...
Genevisiblei
Q06710 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
CAB055097
CAB061888
HPA030062
HPA064554

<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 WWTR1.

1 Publication

<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

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

More...
BioGridi
113604, 9 interactors

Protein interaction database and analysis system

More...
IntActi
Q06710, 24 interactors

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000263334

<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

Secondary structure

1450
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

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

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SMRi
Q06710

Database of comparative protein structure models

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ModBasei
Search...

Miscellaneous databases

Relative evolutionary importance of amino acids within a protein sequence

More...
EvolutionaryTracei
Q06710

<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

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and Domains’ section describes a region of interest that cannot be described in other subsections.<p><a href='/help/region' target='_top'>More...</a></p>Regioni12 – 68PAI subdomainPROSITE-ProRule annotationAdd BLAST57
Regioni87 – 135RED subdomainPROSITE-ProRule annotationAdd BLAST49

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and Domains’ section describes the position of regions of compositional bias within the protein and the particular amino acids that are over-represented within those regions.<p><a href='/help/compbias' target='_top'>More...</a></p>Compositional biasi315 – 327Ser-richAdd BLAST13

Keywords - Domaini

Paired box

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
KOG3862 Eukaryota
ENOG410ZT0S LUCA

Ensembl GeneTree

More...
GeneTreei
ENSGT00940000161868

InParanoid: Eukaryotic Ortholog Groups

More...
InParanoidi
Q06710

KEGG Orthology (KO)

More...
KOi
K09293

Identification of Orthologs from Complete Genome Data

More...
OMAi
QHLDCGF

Database of Orthologous Groups

More...
OrthoDBi
592933at2759

Database for complete collections of gene phylogenies

More...
PhylomeDBi
Q06710

TreeFam database of animal gene trees

More...
TreeFami
TF315397

Family and domain databases

Conserved Domains Database

More...
CDDi
cd00131 PAX, 1 hit

Gene3D Structural and Functional Annotation of Protein Families

More...
Gene3Di
1.10.10.10, 2 hits

Integrated resource of protein families, domains and functional sites

More...
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

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

Protein Motif fingerprint database; a protein domain database

More...
PRINTSi
PR00027 PAIREDBOX

Simple Modular Architecture Research Tool; a protein domain database

More...
SMARTi
View protein in SMART
SM00351 PAX, 1 hit

Superfamily database of structural and functional annotation

More...
SUPFAMi
SSF46689 SSF46689, 1 hit

PROSITE; a protein domain and family database

More...
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 (5+)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 5 <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 5 described isoforms and 4 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q06710-1) [UniParc]FASTAAdd to basket
Also known as: Pax8a

This isoform has been chosen as the <div> <p><b>What is the canonical sequence?</b><p><a href='/help/canonical_and_isoforms' target='_top'>More...</a></p>canonicali 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
MPHNSIRSGH GGLNQLGGAF VNGRPLPEVV RQRIVDLAHQ GVRPCDISRQ
60 70 80 90 100
LRVSHGCVSK ILGRYYETGS IRPGVIGGSK PKVATPKVVE KIGDYKRQNP
110 120 130 140 150
TMFAWEIRDR LLAEGVCDND TVPSVSSINR IIRTKVQQPF NLPMDSCVAT
160 170 180 190 200
KSLSPGHTLI PSSAVTPPES PQSDSLGSTY SINGLLGIAQ PGSDKRKMDD
210 220 230 240 250
SDQDSCRLSI DSQSSSSGPR KHLRTDAFSQ HHLEPLECPF ERQHYPEAYA
260 270 280 290 300
SPSHTKGEQG LYPLPLLNST LDDGKATLTP SNTPLGRNLS THQTYPVVAD
310 320 330 340 350
PHSPFAIKQE TPEVSSSSST PSSLSSSAFL DLQQVGSGVP PFNAFPHAAS
360 370 380 390 400
VYGQFTGQAL LSGREMVGPT LPGYPPHIPT SGQGSYASSA IAGMVAGSEY
410 420 430 440 450
SGNAYGHTPY SSYSEAWRFP NSSLLSSPYY YSSTSRPSAP PTTATAFDHL
Length:450
Mass (Da):48,218
Last modified:November 25, 2008 - v2
<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:i7FDAFA8CEAF20A0E
GO
Isoform 2 (identifier: Q06710-2) [UniParc]FASTAAdd to basket
Also known as: Pax8b

The sequence of this isoform differs from the canonical sequence as follows:
     300-362: Missing.

Show »
Length:387
Mass (Da):41,741
Checksum:i8618767656E83C39
GO
Isoform 3 (identifier: Q06710-3) [UniParc]FASTAAdd to basket
Also known as: Pax8c

The sequence of this isoform differs from the canonical sequence as follows:
     300-450: DPHSPFAIKQ...PTTATAFDHL → APPFWICSKS...RPGASPTPAC

Show »
Length:398
Mass (Da):43,028
Checksum:iB8A48B2C8916723C
GO
Isoform 4 (identifier: Q06710-4) [UniParc]FASTAAdd to basket
Also known as: Pax8d

The sequence of this isoform differs from the canonical sequence as follows:
     260-450: GLYPLPLLNS...PTTATAFDHL → GERWWGPRCP...RPGASPTPAC

Show »
Length:321
Mass (Da):34,909
Checksum:iDE1BC715C6C75532
GO
Isoform 5 (identifier: Q06710-5) [UniParc]FASTAAdd to basket
Also known as: Pax8e

The sequence of this isoform differs from the canonical sequence as follows:
     260-450: GLYPLPLLNS...PTTATAFDHL → EVNTLAMPMATPPTPPTARPGASPTPAC

Show »
Length:287
Mass (Da):31,044
Checksum:i418320AD43B1237E
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 4 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
G3V3F3G3V3F3_HUMAN
Paired box protein Pax-8
PAX8
116Annotation score:

Annotation score:1 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>
H0YJZ5H0YJZ5_HUMAN
Paired box protein Pax-8
PAX8
98Annotation score:

Annotation score:1 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>
H0YJD1H0YJD1_HUMAN
Paired box protein Pax-8
PAX8
173Annotation score:

Annotation score:1 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>
A0A140TA56A0A140TA56_HUMAN
Paired box protein Pax-8
PAX8
85Annotation score:

Annotation score:1 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 conflicti305F → L in X69699 (PubMed:1337742).Curated1
Sequence conflicti322S → C in X69699 (PubMed:1337742).Curated1
Sequence conflicti418R → G in X69699 (PubMed:1337742).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_01276931R → H in CHNG2; loss of activity. 1 PublicationCorresponds to variant dbSNP:rs104893657EnsemblClinVar.1
Natural variantiVAR_01277040Q → P in CHNG2; loss of activity. 1 PublicationCorresponds to variant dbSNP:rs104893656EnsemblClinVar.1
Natural variantiVAR_01277157C → Y in CHNG2; loss of activity. 1 PublicationCorresponds to variant dbSNP:rs104893659EnsemblClinVar.1
Natural variantiVAR_01277262L → R in CHNG2; loss of activity. 1 PublicationCorresponds to variant dbSNP:rs104893658EnsemblClinVar.1
Natural variantiVAR_012773329F → L1 PublicationCorresponds to variant dbSNP:rs3188996EnsemblClinVar.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_002374260 – 450GLYPL…AFDHL → GERWWGPRCPDTHPTSPPAD RAAMPPLPSQAWWQEVNTLA MPMATPPTPPTARPGASPTP AC in isoform 4. 1 PublicationAdd BLAST191
Alternative sequenceiVSP_002375260 – 450GLYPL…AFDHL → EVNTLAMPMATPPTPPTARP GASPTPAC in isoform 5. 1 PublicationAdd BLAST191
Alternative sequenceiVSP_002373300 – 450DPHSP…AFDHL → APPFWICSKSAPGSRPSMPF PMLPPCTGSSRARPSSQGER WWGPRCPDTHPTSPPADRAA MPPLPSQAWWQEVNTLAMPM ATPPTPPTARPGASPTPAC in isoform 3. 1 PublicationAdd BLAST151
Alternative sequenceiVSP_002372300 – 362Missing in isoform 2. 1 PublicationAdd BLAST63

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
X69699 mRNA No translation available.
L19606 mRNA Translation: AAA03539.1
S77904 mRNA Translation: AAB34216.1
S77905 mRNA Translation: AAB34217.2
S77906 mRNA Translation: AAB34218.2
AK292191 mRNA Translation: BAF84880.1
AC016683 Genomic DNA Translation: AAX88880.1
CH471217 Genomic DNA Translation: EAW73629.1
BC001060 mRNA Translation: AAH01060.1

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS42735.1 [Q06710-5]
CCDS42736.1 [Q06710-4]
CCDS46398.1 [Q06710-1]
CCDS46399.1 [Q06710-3]

Protein sequence database of the Protein Information Resource

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PIRi
A54429
I53340

NCBI Reference Sequences

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RefSeqi
NP_003457.1, NM_003466.3 [Q06710-1]
NP_039246.1, NM_013952.3 [Q06710-3]
NP_039247.1, NM_013953.3 [Q06710-4]
NP_054698.1, NM_013992.3 [Q06710-5]

Genome annotation databases

Ensembl eukaryotic genome annotation project

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Ensembli
ENST00000263334; ENSP00000263334; ENSG00000125618 [Q06710-1]
ENST00000263335; ENSP00000263335; ENSG00000125618 [Q06710-4]
ENST00000348715; ENSP00000314750; ENSG00000125618 [Q06710-3]
ENST00000397647; ENSP00000380768; ENSG00000125618 [Q06710-5]
ENST00000429538; ENSP00000395498; ENSG00000125618 [Q06710-1]

Database of genes from NCBI RefSeq genomes

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GeneIDi
7849

KEGG: Kyoto Encyclopedia of Genes and Genomes

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KEGGi
hsa:7849

UCSC genome browser

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UCSCi
uc002tjm.4 human [Q06710-1]

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

Atlas of Genetics and Cytogenetics in Oncology and Haematology

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
X69699 mRNA No translation available.
L19606 mRNA Translation: AAA03539.1
S77904 mRNA Translation: AAB34216.1
S77905 mRNA Translation: AAB34217.2
S77906 mRNA Translation: AAB34218.2
AK292191 mRNA Translation: BAF84880.1
AC016683 Genomic DNA Translation: AAX88880.1
CH471217 Genomic DNA Translation: EAW73629.1
BC001060 mRNA Translation: AAH01060.1
CCDSiCCDS42735.1 [Q06710-5]
CCDS42736.1 [Q06710-4]
CCDS46398.1 [Q06710-1]
CCDS46399.1 [Q06710-3]
PIRiA54429
I53340
RefSeqiNP_003457.1, NM_003466.3 [Q06710-1]
NP_039246.1, NM_013952.3 [Q06710-3]
NP_039247.1, NM_013953.3 [Q06710-4]
NP_054698.1, NM_013992.3 [Q06710-5]

3D structure databases

Select the link destinations:

Protein Data Bank Europe

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PDBei

Protein Data Bank RCSB

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RCSB PDBi

Protein Data Bank Japan

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PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
2K27NMR-A1-143[»]
SMRiQ06710
ModBaseiSearch...

Protein-protein interaction databases

BioGridi113604, 9 interactors
IntActiQ06710, 24 interactors
STRINGi9606.ENSP00000263334

Chemistry databases

ChEMBLiCHEMBL2362980

PTM databases

iPTMnetiQ06710
PhosphoSitePlusiQ06710

Polymorphism and mutation databases

BioMutaiPAX8
DMDMi215273928

Proteomic databases

PaxDbiQ06710
PeptideAtlasiQ06710
PRIDEiQ06710
ProteomicsDBi58470 [Q06710-1]
58471 [Q06710-2]
58472 [Q06710-3]
58473 [Q06710-4]
58474 [Q06710-5]

Protocols and materials databases

The DNASU plasmid repository

More...
DNASUi
7849
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000263334; ENSP00000263334; ENSG00000125618 [Q06710-1]
ENST00000263335; ENSP00000263335; ENSG00000125618 [Q06710-4]
ENST00000348715; ENSP00000314750; ENSG00000125618 [Q06710-3]
ENST00000397647; ENSP00000380768; ENSG00000125618 [Q06710-5]
ENST00000429538; ENSP00000395498; ENSG00000125618 [Q06710-1]
GeneIDi7849
KEGGihsa:7849
UCSCiuc002tjm.4 human [Q06710-1]

Organism-specific databases

Comparative Toxicogenomics Database

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CTDi
7849
DisGeNETi7849

GeneCards: human genes, protein and diseases

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GeneCardsi
PAX8
HGNCiHGNC:8622 PAX8
HPAiCAB055097
CAB061888
HPA030062
HPA064554
MalaCardsiPAX8
MIMi167415 gene
218700 phenotype
neXtProtiNX_Q06710
OpenTargetsiENSG00000125618
Orphaneti95713 Athyreosis
146 Differentiated thyroid carcinoma
95712 Thyroid ectopia
95720 Thyroid hypoplasia
PharmGKBiPA32962

GenAtlas: human gene database

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GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG3862 Eukaryota
ENOG410ZT0S LUCA
GeneTreeiENSGT00940000161868
InParanoidiQ06710
KOiK09293
OMAiQHLDCGF
OrthoDBi592933at2759
PhylomeDBiQ06710
TreeFamiTF315397

Enzyme and pathway databases

SIGNORiQ06710

Miscellaneous databases

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

More...
ChiTaRSi
PAX8 human
EvolutionaryTraceiQ06710

The Gene Wiki collection of pages on human genes and proteins

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GeneWikii
PAX8

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

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GenomeRNAii
7849

Protein Ontology

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PROi
PR:Q06710

The Stanford Online Universal Resource for Clones and ESTs

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SOURCEi
Search...

Gene expression databases

BgeeiENSG00000125618 Expressed in 212 organ(s), highest expression level in right lobe of thyroid gland
ExpressionAtlasiQ06710 baseline and differential
GenevisibleiQ06710 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...

MobiDB: a database of protein disorder and mobility annotations

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MobiDBi
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 nameiPAX8_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: Q06710
Secondary accession number(s): Q09155
, Q16337, Q16338, Q16339, Q4ZG35, Q96J49
<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: June 1, 1994
Last sequence update: November 25, 2008
Last modified: July 31, 2019
This is version 186 of the entry and version 2 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

3D-structure, Complete proteome, Reference proteome

Documents

  1. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  2. Human chromosome 2
    Human chromosome 2: entries, gene names and cross-references to MIM
  3. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  4. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  5. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
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