Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
7849
Gene name Gene Name - the full gene name approved by the HGNC.
Paired box 8
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
PAX8
Synonyms (NCBI Gene) Gene synonyms aliases
PAX-8
Chromosome Chromosome number
2
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
2q14.1
Summary Summary of gene provided in NCBI Entrez 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
miRNA miRNA information provided by mirtarbase database.
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 factor Regulation Reference
EZH2 Unknown 21289264
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
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 ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
167415 8622 ENSG00000125618
Protein
UniProt ID 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
 
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Hypothyroidism Hypothyroidism, congenital, nongoitrous, 2 rs121917719, rs104893660, rs104893655, rs104893657, rs104893658, rs104893659, rs104893656 N/A
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Cervical Cancer Cervical cancer N/A N/A GWAS
Congenital Hypothyroidism congenital hypothyroidism N/A N/A ClinVar
Insomnia Insomnia N/A N/A GWAS
Kidney Disease Chronic kidney disease N/A N/A GWAS
Associations from Text Mining Disease 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