Entity Details

Primary name PAX8_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionQ06710
EntryNamePAX8_HUMAN
FullNamePaired box protein Pax-8
TaxID9606
Evidenceevidence at protein level
Length450
SequenceStatuscomplete
DateCreated1994-06-01
DateModified2021-06-02

Ontological Relatives

GenesPAX8

GO terms

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GOName
GO:0000785 chromatin
GO:0000976 transcription cis-regulatory region binding
GO:0000978 RNA polymerase II cis-regulatory region sequence-specific DNA binding
GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific
GO:0001655 urogenital system development
GO:0001658 branching involved in ureteric bud morphogenesis
GO:0001822 kidney development
GO:0001823 mesonephros development
GO:0003337 mesenchymal to epithelial transition involved in metanephros morphogenesis
GO:0003677 DNA binding
GO:0003700 DNA-binding transcription factor activity
GO:0004996 thyroid-stimulating hormone receptor activity
GO:0005634 nucleus
GO:0005654 nucleoplasm
GO:0006351 transcription, DNA-templated
GO:0006357 regulation of transcription by RNA polymerase II
GO:0007417 central nervous system development
GO:0009653 anatomical structure morphogenesis
GO:0030878 thyroid gland development
GO:0039003 pronephric field specification
GO:0042472 inner ear morphogenesis
GO:0042981 regulation of apoptotic process
GO:0045893 positive regulation of transcription, DNA-templated
GO:0045944 positive regulation of transcription by RNA polymerase II
GO:0048793 pronephros development
GO:0048856 anatomical structure development
GO:0071371 cellular response to gonadotropin stimulus
GO:0071599 otic vesicle development
GO:0072108 positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis
GO:0072207 metanephric epithelium development
GO:0072221 metanephric distal convoluted tubule development
GO:0072278 metanephric comma-shaped body morphogenesis
GO:0072284 metanephric S-shaped body morphogenesis
GO:0072289 metanephric nephron tubule formation
GO:0072305 negative regulation of mesenchymal cell apoptotic process involved in metanephric nephron morphogenesis
GO:0072307 regulation of metanephric nephron tubule epithelial cell differentiation
GO:0090190 positive regulation of branching involved in ureteric bud morphogenesis
GO:1900212 negative regulation of mesenchymal cell apoptotic process involved in metanephros development
GO:1900215 negative regulation of apoptotic process involved in metanephric collecting duct development
GO:1900218 negative regulation of apoptotic process involved in metanephric nephron tubule development
GO:1990837 sequence-specific double-stranded DNA binding
GO:2000594 positive regulation of metanephric DCT cell differentiation
GO:2000611 positive regulation of thyroid hormone generation
GO:2000612 regulation of thyroid-stimulating hormone secretion

Subcellular Location

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Subcellular Location
Nucleus

Domains

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DomainNameCategoryType
IPR001523 Paired domainDomainDomain
IPR009057 Homeobox-like domain superfamilyFamilyHomologous superfamily
IPR022130 Paired-box protein 2 C-terminalDomainDomain
IPR036388 Winged helix-like DNA-binding domain superfamilyFamilyHomologous superfamily
IPR043182 Paired DNA-binding domainDomainDomain
IPR043565 PAX familyFamilyFamily

Diseases

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Disease IDSourceNameDescription
218700 OMIMHypothyroidism, congenital, non-goitrous, 2 (CHNG2)A 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. The disease is caused by variants affecting the gene represented in this entry.

Interactions

32 interactions

InteractorPartnerSourcesPublicationsLink
PAX8_HUMANSERC1_HUMANBioGRID, IntAct20195357 details
PAX8_HUMANANXA7_HUMANBioGRID, IntAct20195357 details
PAX8_HUMANIKKA_HUMANBioGRID, IntAct21988832 details
PAX8_HUMANCXCL9_HUMANBioGRID, IntAct21988832 details
PAX8_HUMANKPYM_HUMANBioGRID, IntAct21988832 details
PAX8_HUMANSMAD4_HUMANIntAct27107012 details
PAX8_HUMANHXC9_HUMANBioGRID, IntAct32296183 details
PAX8_HUMANHXC8_HUMANBioGRID, IntAct32296183 details
PAX8_HUMANLONF1_HUMANBioGRID, IntAct32296183 details
PAX8_HUMANSAE1_HUMANBioGRID, IntAct32296183 details
PAX8_HUMANDOK4_HUMANBioGRID, IntAct32296183 details
PAX8_HUMANCDK3_HUMANBioGRID, IntAct32296183 details
PAX8_HUMANGCM2_HUMANBioGRID, IntAct32296183 details
PAX8_HUMANCREST_HUMANBioGRID, IntAct32296183 details
PAX8_HUMANTLE5_HUMANBioGRID, IntAct32296183 details
PAX8_HUMANOBF1_HUMANBioGRID, IntAct20211142 details
PAX8_HUMANNKX21_HUMANBioGRID, HPRD12441357 14970209 details
PAX8_HUMANEP300_HUMANBioGRID, HPRD10924503 details
PAX8_HUMANAURKA_HUMANBioGRID31391550 details
PAX8_HUMANSKP2_HUMANBioGRID31391550 details
PAX8_HUMANNUCL_HUMANIntAct20195357 details
PAX8_HUMANCSTN1_HUMANIntAct20195357 details
PAX8_HUMANHS71A_HUMANIntAct20195357 details
PAX8_HUMANHS71B_HUMANIntAct20195357 details
PAX8_HUMANRSBN1_HUMANIntAct20195357 details
PAX8_HUMANTMA16_HUMANIntAct20195357 details
PAX8_HUMANUNK_HUMANIntAct20195357 details
PAX8_HUMANRLA2_HUMANIntAct20195357 details
PAX8_HUMANRB_HUMANBioGRID, I2D21602887 details
PAX8_HUMANSMAD3_HUMANHPRD14623893 details
PAX8_HUMANWBP2_HUMANHPRD14531730 details
PAX8_HUMANID2_HUMANHPRD11134340 details