Gene Gene information from NCBI Gene database.
Entrez ID 7849
Gene name Paired box 8
Gene symbol PAX8
Synonyms (NCBI Gene)
PAX-8
Chromosome 2
Chromosome location 2q14.1
Summary 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
miRNA miRNA information provided by mirtarbase database.
131
miRTarBase ID miRNA Experiments Reference
MIRT513402 hsa-miR-3200-5p PAR-CLIP 23446348
MIRT513401 hsa-miR-199a-5p PAR-CLIP 23446348
MIRT513400 hsa-miR-199b-5p PAR-CLIP 23446348
MIRT513399 hsa-miR-345-5p PAR-CLIP 23446348
MIRT513398 hsa-miR-8068 PAR-CLIP 23446348
Transcription factors Transcription factors information provided by TRRUST V2 database.
1
Transcription factor Regulation Reference
EZH2 Unknown 21289264
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
86
GO ID Ontology Definition Evidence Reference
GO:0000785 Component Chromatin ISA
GO:0000976 Function Transcription cis-regulatory region binding IDA 15356023
GO:0000976 Function Transcription cis-regulatory region binding IEA
GO:0000978 Function RNA polymerase II cis-regulatory region sequence-specific DNA binding IBA
GO:0000978 Function RNA polymerase II cis-regulatory region sequence-specific DNA binding IDA 9388203
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
167415 8622 ENSG00000125618
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q06710
Protein name Paired box protein Pax-8
Protein function Transcription factor for the thyroid-specific expression of the genes exclusively expressed in the thyroid cell type, maintaining the functional differentiation of such cells.
PDB 2K27
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00292 PAX 9 133 Domain
PF12403 Pax2_C 337 449 Paired-box protein 2 C terminal Family
Tissue specificity TISSUE SPECIFICITY: Expressed in the excretory system, thyroid gland and Wilms tumors.
Sequence
MPHNSIRSGHGGLNQLGGAFVNGRPLPEVVRQRIVDLAHQGVRPCDISRQLRVSHGCVSK
ILGRYYETGSIRPGVIGGSKPKVATPKVVEKIGDYKRQNPTMFAWEIRDRLLAEGVCDND
TVPSVSSINRIIR
TKVQQPFNLPMDSCVATKSLSPGHTLIPSSAVTPPESPQSDSLGSTY
SINGLLGIAQPGSDKRKMDDSDQDSCRLSIDSQSSSSGPRKHLRTDAFSQHHLEPLECPF
ERQHYPEAYASPSHTKGEQGLYPLPLLNSTLDDGKATLTPSNTPLGRNLSTHQTYPVVAD
PHSPFAIKQETPEVSSSSSTPSSLSSSAFLDLQQVGSGVPPFNAFPHAASVYGQFTGQAL
LSGREMVGPTLPGYPPHIPTSGQGSYASSAIAGMVAGSEYSGNAYGHTPYSSYSEAWRFP
NSSLLSSPYYYSSTSRPSAPPTTATAFDH
L
Sequence length 450
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG 
  Thyroid hormone synthesis
Pathways in cancer
Transcriptional misregulation in cancer
Thyroid cancer
 
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
140
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Congenital hypothyroidism Pathogenic rs1690970101, rs1691361089, rs1690853952 RCV001270337
RCV001270336
RCV001270341
Hypothyroidism, congenital, nongoitrous, 2 Likely pathogenic; Pathogenic rs2104498488, rs104893655, rs104893657, rs104893658, rs104893659, rs104893660, rs104893656, rs121917719, rs1691154033, rs1690965885, rs761612832 RCV001795825
RCV000014793
RCV000014794
RCV000014795
RCV000014796
RCV000014797
RCV000014798
RCV000014799
RCV000502399
RCV001170073
RCV001170074
RCV005014322
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Intellectual disability Conflicting classifications of pathogenicity; Likely benign rs377351599, rs530511212 RCV005626473
RCV005626752
PAX8 POLYMORPHISM Benign; Likely benign rs3188996 RCV000014792
PAX8-related disorder Uncertain significance; Benign; Likely benign; Conflicting classifications of pathogenicity rs201419236, rs3188996, rs189229644, rs374229935, rs528166239 RCV003399827
RCV003974824
RCV003955720
RCV003965745
RCV003960622
Thyroid cancer, nonmedullary, 1 Benign; Likely benign rs200817352 RCV005907127
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Adenocarcinoma Associate 26910219
Adenocarcinoma Follicular Associate 15238980, 15256783, 15972966, 20056739, 21317881, 23025542, 24510380, 24798894, 26649796, 29108474, 30210064
Adenocarcinoma in Situ Associate 26910219
Adenocarcinoma Mucinous Associate 26797858, 30258209, 34103667, 35405716
Adenoma Associate 15238980, 21317881, 23025542, 29108474, 30648929, 31273314
Adenoma Oxyphilic Associate 19525927, 23194047
Adenoma Pleomorphic Associate 24771139
Anemia Sickle Cell Associate 35321643
Atherosclerosis Associate 36658621
Atypical Squamous Cells of the Cervix Associate 29469940