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Gene: PAX8 (paired box 8) Homo sapiens
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Symbol: PAX8
Name: paired box 8
RGD ID: 730849
Description: Exhibits DNA-binding transcription factor activity and RNA polymerase II cis-regulatory region sequence-specific DNA binding activity. Involved in several processes, including kidney development; otic vesicle development; and positive regulation of nitrogen compound metabolic process. Localizes to nucleoplasm. Implicated in congenital hypothyroidism and congenital nongoitrous hypothyroidism 2.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: paired box protein Pax-8; paired domain gene 8
Orthologs:
Mus musculus (house mouse) : Pax8 (paired box 8)  MGI  Alliance
Rattus norvegicus (Norway rat) : Pax8 (paired box 8)  Alliance
Chinchilla lanigera (long-tailed chinchilla) : Pax8 (paired box 8)
Pan paniscus (bonobo/pygmy chimpanzee) : PAX8 (paired box 8)
Canis lupus familiaris (dog) : PAX8 (paired box 8)
Ictidomys tridecemlineatus (thirteen-lined ground squirrel) : Pax8 (paired box 8)
Chlorocebus sabaeus (African green monkey) : PAX8 (paired box 8)
Heterocephalus glaber (naked mole-rat) : Pax8 (paired box 8)
more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl2113,215,997 - 113,278,921 (-)EnsemblGRCh38hg38GRCh38
GRCh382113,215,997 - 113,278,921 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh372113,973,574 - 114,036,527 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 362113,690,045 - 113,752,968 (-)NCBINCBI36hg18NCBI36
Build 342113,691,170 - 113,752,728NCBI
Celera2107,358,161 - 107,421,066 (-)NCBI
Cytogenetic Map2q14.1NCBI
HuRef2106,427,614 - 106,522,962 (-)NCBIHuRef
CHM1_12113,977,965 - 114,040,915 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations
Gene-Chemical Interaction Annotations
Gene Ontology Annotations
Molecular Pathway Annotations
Phenotype Annotations
References - curated
References - uncurated

Genomics

Comparative Map Data
Position Markers
miRNA Target Status

Expression

RNA-SEQ Expression

Sequence

Nucleotide Sequences
Protein Sequences
Promoters
Clinical Variants

Additional Information

External Database Links
 
More on PAX8
Alliance Gene
NCBI Gene
Ensembl Gene
JBrowse: hg19 hg38
HGNC Report
NCBI Genome Data Viewer

RGD Object Information
RGD ID: 730849
Created: 2003-12-10
Species: Homo sapiens
Last Modified: 2020-09-16
Status: ACTIVE



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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.