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FLASH GENE
Symbol PAX4 contributors: npt/ - updated : 19-05-2010
HGNC name paired box gene 4
HGNC id 8618
Corresponding disease
MODY9 maturity onset diabetes of the young, type 9
Location 7q32.1      Physical location : 127.250.345 - 127.255.780
Synonym name paired domain gene 4
Synonym symbol(s) KPD, MGC129960
DNA
TYPE functioning gene
STRUCTURE 5.43 kb     9 Exon(s)
10 Kb 5' upstream gene genomic sequence study
MAPPING cloned Y linked   status provisional
Map cen - D7S2876 - D7S514 - PAX4 - D7S635 - qter
Authors Tao (98)
Physical map
LOC346646 7q32.2 similar to Protein C20orf45 (CGI-107) LOC168850 7q32.2 hypothetical protein LOC168850 GCC1 7q22.3 golgi coiled-coil 1 ARF5 7q31.3 ADP-ribosylation factor 5 FSCN3 7q31.3 fascin homolog 3, actin-bundling protein, testicular (Strongylocentrotus purpuratus) PAX4 7q32 paired box gene 4 SND1 7q31.3 paired box gene 4 NSG-X 7q31 brain and nasopharyngeal carcinoma susceptibility protein LRRC4 7q31 leucine rich repeat containing 4 LEP 7q31.3 leptin (obesity homolog, mouse) MGC27345 7q32.2 hypothetical protein MGC27345 FLJ10377 7q32.2 hypothetical protein FLJ10377 LOC389551 7 hypothetical gene supported by BC063892 IMPDH1 7q31.3-q32 IMP (inosine monophosphate) dehydrogenase 1 HIG2 7q32.2 hypoxia-inducible protein 2 METTL2 17q24.1 methyltransferase like 2 LOC389552 7 similar to Serine/threonine-protein kinase tousled-like 2 (Tousled-like kinase 2) (PKU-alpha) LOC389553 7 hypothetical gene supported by AL137733 LOC389554 7 hypothetical gene supported by BC062355 LOC392095 7 similar to capicua homolog LOC346653 7q32.2 hypothetical protein LOC346653 NYD-SP18 7q32.2-q32.3 testes development-related NYD-SP18 CALU 7q32 calumenin
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
9 - 2010 36.9 343 - Inoue (1998)
EXPRESSION
Type
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Cardiovascularheart    
Endocrinepancreas    
tissue
SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
Epithelialsecretoryglandularendocrine 
Epithelialsecretoryglandularexocrine 
Muscularstriatumskeletal  
cell lineage
cell lines
fluid/secretion
at STAGE
physiological period pregnancy
Text placenta, predominantly
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • a paired DNA binding domain with a truncated homeo domain,comprising two structurally distinct N terminal (NTS), including a homonucleotide tracT and C terminal subdomains (paired domain serves as a novel protein transduction domain (PTD) (Lu 2007)
  • a truncated helix-turn helix DNA binding domain
  • an intermediary octapeptide motif
  • HOMOLOGY
    Homologene
    FAMILY
  • paired homeobox family
  • CATEGORY transcription factor , tumor suppressor
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,nucleus
    basic FUNCTION
  • playing an essential role for differentiation of insulin-producing beta-cells
  • functions as a potent tumor suppressor (Hata 2008)
  • its activity is necessary to establish appropriate patterns of gene expression in endocrine progenitors of the digestive tract (Wang 2008)
  • enhances beta-cell differentiation of human embryonic stem cells (Liew 2008)
  • key regulator of pancreatic islet cell growth and differentiation (Lu 2004)
  • mediates direct protein transduction into mammalian cells (Lu 2007)
  • CELLULAR PROCESS nucleotide, transcription
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling hormonal
    a component
    INTERACTION
    DNA binding (homeodomain)
    RNA
    small molecule
    protein
  • transcriptional repressor of islet amyloid polypeptide (IAPP), glucagon and GHRL (Wang 2008)
  • cell & other
    REGULATION
    activated by mitogens and ZGLP1 (Brun 2008)
    induced by physiological stimuli through the concerted action of multiple signalling pathways, and epigenetically regulated (Brun 2008)
    ASSOCIATED DISORDERS
    corresponding disease(s) MODY9
    Susceptibility
  • to ketosis-prone diabetes
  • to MODY in Thais
  • Variant & Polymorphism other
  • homozygous Arg133-Trp increasing the risk of ketosis-prone diabetes in west Africans
  • R164W, and IVS7-1G>A increasing the risk of MODY in Thais
  • Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
  • in the adult rat retina, Pax4 transcripts exhibit a diurnal rhythm with maximal levels occurring during the light period, whereas retinal Pax6 transcript levels do not change throughout the day (Rath 2009)
  • Pax4-deficient mice have a severe gastrointestinal endocrine deficiency (Wang 2008)