• Gene id: 7849

Gene Summary

• Gene Symbol: PAX8   Gene   UCSC   Ensembl
• Gene name: paired box 8
• Alternate names: paired box protein Pax-8, paired domain gene 8,
• Gene location: 2q14.1 (113278920: 113215996)     Exons: 12     NC_000002.12
• Gene summary(Entrez): 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
• OMIM: 167415

Protein Summary

• Protein general information: Q06710  
  • Name: Paired box protein Pax 8
  • Length: 450  
  • Mass: 48218
  • Tissue specificity: Expressed in the excretory system, thyroid gland and Wilms tumors.
• Sequence:

  MPHNSIRSGHGGLNQLGGAFVNGRPLPEVVRQRIVDLAHQGVRPCDISRQLRVSHGCVSKILGRYYETGSIRPGV
  IGGSKPKVATPKVVEKIGDYKRQNPTMFAWEIRDRLLAEGVCDNDTVPSVSSINRIIRTKVQQPFNLPMDSCVAT
  KSLSPGHTLIPSSAVTPPESPQSDSLGSTYSINGLLGIAQPGSDKRKMDDSDQDSCRLSIDSQSSSSGPRKHLRT
  DAFSQHHLEPLECPFERQHYPEAYASPSHTKGEQGLYPLPLLNSTLDDGKATLTPSNTPLGRNLSTHQTYPVVAD
  PHSPFAIKQETPEVSSSSSTPSSLSSSAFLDLQQVGSGVPPFNAFPHAASVYGQFTGQALLSGREMVGPTLPGYP
  PHIPTSGQGSYASSAIAGMVAGSEYSGNAYGHTPYSSYSEAWRFPNSSLLSSPYYYSSTSRPSAPPTTATAFDHL

• Structural information:
  • Interpro: IPR009057  IPR001523  IPR022130  IPR036388  
  • Prosite: PS00034 PS51057
  • CDD: cd00131
  • PDB: 2K27
  • PDBsum: 2K27
  • STRING: ENSP00000263334
• Other Databases: GeneCards:  PAX8  Malacards:  PAX8

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0000790	nuclear chromatin	ISA	cellular component
GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	ISM	molecular function
GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	ISA	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0003677	DNA binding	IEA	molecular function
GO:0006355	regulation of transcription, DNA-templated	IEA	biological process
GO:0030154	cell differentiation	IEA	biological process
GO:0007275	multicellular organism development	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0003677	DNA binding	IEA	molecular function
GO:0004996	thyroid-stimulating hormone receptor activity	TAS	molecular function
GO:0003700	DNA-binding transcription factor activity	TAS	molecular function
GO:0009653	anatomical structure morphogenesis	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0001655	urogenital system development	IEA	biological process
GO:0001656	metanephros development	IEA	biological process
GO:0001823	mesonephros development	IEA	biological process
GO:0007417	central nervous system development	IEA	biological process
GO:0010667	negative regulation of cardiac muscle cell apoptotic process	IEA	biological process
GO:0030154	cell differentiation	IEA	biological process
GO:0030878	thyroid gland development	IEA	biological process
GO:0039003	pronephric field specification	IEA	biological process
GO:0042472	inner ear morphogenesis	IEA	biological process
GO:0045893	positive regulation of transcription, DNA-templated	IEA	biological process
GO:0072108	positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis	IEA	biological process
GO:0072221	metanephric distal convoluted tubule development	IEA	biological process
GO:0072307	regulation of metanephric nephron tubule epithelial cell differentiation	IEA	biological process
GO:1900215	negative regulation of apoptotic process involved in metanephric collecting duct development	IEA	biological process
GO:2000611	positive regulation of thyroid hormone generation	IEA	biological process
GO:0000978	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IEA	molecular function
GO:0001228	DNA-binding transcription activator activity, RNA polymerase II-specific	IEA	molecular function
GO:0005654	nucleoplasm	IEA	cellular component
GO:0043565	sequence-specific DNA binding	IEA	molecular function
GO:0003281	ventricular septum development	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0006351	transcription, DNA-templated	IEA	biological process
GO:0042981	regulation of apoptotic process	IEA	biological process
GO:0048793	pronephros development	IEA	biological process
GO:0072050	S-shaped body morphogenesis	IEA	biological process
GO:0072073	kidney epithelium development	IEA	biological process
GO:0072164	mesonephric tubule development	IEA	biological process
GO:0072289	metanephric nephron tubule formation	IEA	biological process
GO:0072305	negative regulation of mesenchymal cell apoptotic process involved in metanephric nephron morphogenesis	IEA	biological process
GO:0090190	positive regulation of branching involved in ureteric bud morphogenesis	IEA	biological process
GO:1900212	negative regulation of mesenchymal cell apoptotic process involved in metanephros development	IEA	biological process
GO:1900218	negative regulation of apoptotic process involved in metanephric nephron tubule development	IEA	biological process
GO:2000594	positive regulation of metanephric DCT cell differentiation	IEA	biological process
GO:0003677	DNA binding	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0006355	regulation of transcription, DNA-templated	IEA	biological process
GO:0006790	sulfur compound metabolic process	IEA	biological process
GO:0045944	positive regulation of transcription by RNA polymerase II	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0038194	thyroid-stimulating hormone signaling pathway	IEA	biological process
GO:0071371	cellular response to gonadotropin stimulus	IDA	biological process
GO:0000976	transcription regulatory region sequence-specific DNA binding	IDA	molecular function
GO:0005634	nucleus	IDA	cellular component
GO:0003677	DNA binding	IDA	molecular function
GO:0003677	DNA binding	IDA	molecular function
GO:0045893	positive regulation of transcription, DNA-templated	IDA	biological process
GO:0045893	positive regulation of transcription, DNA-templated	IDA	biological process
GO:0045893	positive regulation of transcription, DNA-templated	IDA	biological process
GO:0003700	DNA-binding transcription factor activity	IDA	molecular function
GO:0003700	DNA-binding transcription factor activity	IDA	molecular function
GO:0000978	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IDA	molecular function
GO:0045944	positive regulation of transcription by RNA polymerase II	IDA	biological process
GO:0006351	transcription, DNA-templated	IDA	biological process
GO:0005634	nucleus	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:2000612	regulation of thyroid-stimulating hormone secretion	IMP	biological process
GO:1900215	negative regulation of apoptotic process involved in metanephric collecting duct development	ISS	biological process
GO:0072284	metanephric S-shaped body morphogenesis	IEP	biological process
GO:0072278	metanephric comma-shaped body morphogenesis	IEP	biological process
GO:0072108	positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis	ISS	biological process
GO:0030878	thyroid gland development	IEP	biological process
GO:0030878	thyroid gland development	IEP	biological process
GO:0007417	central nervous system development	IEP	biological process
GO:0005654	nucleoplasm	ISS	cellular component
GO:0001823	mesonephros development	ISS	biological process
GO:1900218	negative regulation of apoptotic process involved in metanephric nephron tubule development	ISS	biological process
GO:0090190	positive regulation of branching involved in ureteric bud morphogenesis	ISS	biological process
GO:0071599	otic vesicle development	IEP	biological process
GO:0048793	pronephros development	ISS	biological process
GO:0003677	DNA binding	IMP	molecular function
GO:2000611	positive regulation of thyroid hormone generation	IMP	biological process
GO:0072307	regulation of metanephric nephron tubule epithelial cell differentiation	ISS	biological process
GO:0072221	metanephric distal convoluted tubule development	ISS	biological process
GO:0045893	positive regulation of transcription, DNA-templated	ISS	biological process
GO:0042472	inner ear morphogenesis	ISS	biological process
GO:0039003	pronephric field specification	ISS	biological process
GO:0030878	thyroid gland development	IMP	biological process
GO:0001822	kidney development	IEP	biological process
GO:0001655	urogenital system development	ISS	biological process
GO:2000594	positive regulation of metanephric DCT cell differentiation	ISS	biological process
GO:1900212	negative regulation of mesenchymal cell apoptotic process involved in metanephros development	ISS	biological process
GO:0072305	negative regulation of mesenchymal cell apoptotic process involved in metanephric nephron morphogenesis	ISS	biological process
GO:0072289	metanephric nephron tubule formation	ISS	biological process
GO:0072207	metanephric epithelium development	IEP	biological process
GO:0042981	regulation of apoptotic process	ISS	biological process
GO:0003337	mesenchymal to epithelial transition involved in metanephros morphogenesis	IEP	biological process
GO:0001658	branching involved in ureteric bud morphogenesis	IEP	biological process

KEGG pathways

Pathway id	Pathway name
hsa05200	Pathways in cancer
hsa05202	Transcriptional misregulation in cancer
hsa04918	Thyroid hormone synthesis
hsa05216	Thyroid cancer

Diseases

Associated diseases	References
Thyroid cancer	KEGG:H00032
Congenital nongoitrous hypothyroidism	KEGG:H00250
Thyroid cancer	KEGG:H00032
Congenital nongoitrous hypothyroidism	KEGG:H00250
Congenital hypothyroidism	PMID:9590296
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Teratozoospermia	MIK: 17327269
Unexplained infertility	MIK: 25753583

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
25753583	Unexplained infertility			46 (17 fertile men, 29 male patients)	Male infertility	Microarray