PAX4

Paired box gene 4, also known as PAX4, is a protein which in humans is encoded by the PAX4 gene.^[5][6][7]

PAX4
Identifiers
Aliases	PAX4, KPD, MODY9, paired box 4
External IDs	OMIM: 167413; MGI: 97488; HomoloGene: 4515; GeneCards: PAX4; OMA:PAX4 - orthologs
Gene location (Human) Chr. Chromosome 7 (human)[1] Band 7q32.1 Start 127,610,292 bp[1] End 127,618,142 bp[1]
Gene location (Mouse) Chr. Chromosome 6 (mouse)[2] Band 6 A3.3|6 11.99 cM Start 28,442,333 bp[2] End 28,449,352 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in testicle rectum mucosa of transverse colon duodenum tibialis anterior muscle deltoid muscle islet of Langerhans developmental structure embryo ganglionic eminence Top expressed in entorhinal cortex CA3 field perirhinal cortex embryo embryo Medulla Oblongata inner muscle layer ureter lens duodenum More reference expression data BioGPS More reference expression data
Gene ontology Molecular function RNA polymerase II cis-regulatory region sequence-specific DNA binding DNA binding sequence-specific DNA binding DNA-binding transcription repressor activity, RNA polymerase II-specific double-stranded DNA binding DNA-binding transcription factor activity, RNA polymerase II-specific protein binding Cellular component nucleoplasm nucleus Biological process cell differentiation regulation of transcription, DNA-templated negative regulation of apoptotic process negative regulation of transcription by RNA polymerase II transcription, DNA-templated multicellular organism development retina development in camera-type eye circadian rhythm positive regulation of cell differentiation animal organ morphogenesis regulation of cell differentiation response to cAMP negative regulation of transcription, DNA-templated endocrine pancreas development pancreas development Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 5078 18506 Ensembl ENSG00000106331 ENSMUSG00000029706 UniProt O43316 Q3KNR5 P32115 RefSeq (mRNA) NM_006193 NM_001366110 NM_001366111 NM_001159925 NM_001159926 NM_011038 RefSeq (protein) NP_006184 NP_001353039 NP_001353040 NP_001153397 NP_001153398 NP_035168 Location (UCSC) Chr 7: 127.61 – 127.62 Mb Chr 6: 28.44 – 28.45 Mb PubMed search [3] [4]
Wikidata
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Function

This gene is a member of the paired box (PAX) family of transcription factors. Members of this gene family typically contain a paired box domain, an octapeptide, and a paired-type homeodomain. These genes play critical roles during fetal development and cancer growth. The paired box gene 4 is involved in pancreatic islet development and mouse studies have demonstrated a role for this gene in differentiation of insulin-producing beta cells.^[5]

See also

• Pax genes
• Maturity onset diabetes of the young type 9