PAX8

Protein identityUniProt · HPA

UniProt accession

Q06710

Gene

PAX8

Ensembl

ENSG00000125618

Chromosome

2

Canonical length

450 aa

Protein class

Cancer-related genes, Disease related genes, Human disease related genes, Predicted intracellular proteins, Transcription factors

Subcellular location

Nucleoplasm

OverviewNCBI Gene

This gene encodes a member of the paired box (PAX) family of transcription factors. Members of this gene family typically encode proteins that contain a paired box domain, an octapeptide, and a paired-type homeodomain. This nuclear protein is involved in thyroid follicular cell development and expression of thyroid-specific genes. Mutations in this gene have been associated with thyroid dysgenesis, thyroid follicular carcinomas and atypical follicular thyroid adenomas. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Mar 2010]

Canonical amino-acid sequenceUniProt

450 residues, UniProt reviewed canonical sequence.

>Q06710|PAX8
     1  MPHNSIRSGH GGLNQLGGAF VNGRPLPEVV RQRIVDLAHQ GVRPCDISRQ LRVSHGCVSK
    61  ILGRYYETGS IRPGVIGGSK PKVATPKVVE KIGDYKRQNP TMFAWEIRDR LLAEGVCDND
   121  TVPSVSSINR IIRTKVQQPF NLPMDSCVAT KSLSPGHTLI PSSAVTPPES PQSDSLGSTY
   181  SINGLLGIAQ PGSDKRKMDD SDQDSCRLSI DSQSSSSGPR KHLRTDAFSQ HHLEPLECPF
   241  ERQHYPEAYA SPSHTKGEQG LYPLPLLNST LDDGKATLTP SNTPLGRNLS THQTYPVVAD
   301  PHSPFAIKQE TPEVSSSSST PSSLSSSAFL DLQQVGSGVP PFNAFPHAAS VYGQFTGQAL
   361  LSGREMVGPT LPGYPPHIPT SGQGSYASSA IAGMVAGSEY SGNAYGHTPY SSYSEAWRFP
   421  NSSLLSSPYY YSSTSRPSAP PTTATAFDHL

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against PAX8 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability

Intracellular

Secreted

No

Transmembrane segments

0

Mean surface accessibility (rSASA)

0.63

Highest tissue expression

537 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about PAX8.

Disease | AllUniProt

Conditions PAX8 is implicated in, by any mechanism.

• Hypothyroidism, congenital, non-goitrous, 2 (CHNG2) MIM:218700

Disease | GeneticClinVar

23 pathogenic / likely-pathogenic of 279 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Hypothyroidism, congenital, nongoitrous, 2
• Congenital hypothyroidism

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)

0.2

gnomAD pLI

1

gnomAD missense Z

0.79

DepMap mean gene effect

-0.21

DepMap dependency class

selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• anatomical structure morphogenesis
• branching involved in ureteric bud morphogenesis
• cellular response to gonadotropin stimulus
• central nervous system development
• DNA-templated transcription
• inner ear morphogenesis
• kidney development
• mesenchymal to epithelial transition involved in metanephros morphogenesis
• mesonephros development
• metanephric comma-shaped body morphogenesis
• metanephric distal convoluted tubule development
• metanephric epithelium development
• metanephric nephron tubule formation
• metanephric S-shaped body morphogenesis
• negative regulation of apoptotic process involved in metanephric collecting duct development
• negative regulation of apoptotic process involved in metanephric nephron tubule development
• negative regulation of cardiac muscle cell apoptotic process
• negative regulation of mesenchymal cell apoptotic process involved in metanephric nephron morphogenesis
• negative regulation of mesenchymal cell apoptotic process involved in metanephros development
• nervous system development
• otic vesicle development
• positive regulation of branching involved in ureteric bud morphogenesis
• positive regulation of DNA-templated transcription
• positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis
• positive regulation of metanephric DCT cell differentiation
• positive regulation of thyroid hormone generation
• positive regulation of transcription by RNA polymerase II
• pronephric field specification
• pronephros development
• regulation of apoptotic process
• regulation of metanephric nephron tubule epithelial cell differentiation
• regulation of transcription by RNA polymerase II
• sensory organ development
• thyroid gland development
• urogenital system development
• ventricular septum development
• regulation of thyroid-stimulating hormone secretion

Molecular functions

• DNA binding
• DNA-binding transcription factor activity
• DNA-binding transcription factor activity, RNA polymerase II-specific
• RNA polymerase II cis-regulatory region sequence-specific DNA binding
• sequence-specific double-stranded DNA binding
• thyroid-stimulating hormone receptor activity
• transcription cis-regulatory region binding

Cellular components

• chromatin
• nucleoplasm
• nucleus

Protein domainsUniProt · Pfam · InterPro

• Paired domain
• Homedomain-like superfamily
• Paired-box protein 2 C-terminal
• Winged helix-like DNA-binding domain superfamily
• Paired DNA-binding site
• PAX family
• 'Paired box' domain
• Paired-box protein 2 C terminal

KeywordsUniProt

• Congenital hypothyroidism
• Developmental protein
• Differentiation
• DNA-binding
• Nucleus
• Paired box
• Phosphoprotein
• Transcription
• Transcription regulation

InteractionsUniProt · HPA

Protein binding partners of PAX8 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

• WWTR1