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FLASH GENE
Symbol SOX13 contributors: mct/npt - updated : 17-05-2010
HGNC name SRY (sex determining region Y)-box 13
HGNC id 11192
Location 1q32.1      Physical location : 204.042.245 - 204.096.869
Synonym name
  • type 1 diabetes autoantigen
  • type 1 diabetes autoantigen ICA12
  • islet cell antibody 12
  • SRY-related HMG-box gene 13
  • Synonym symbol(s) ICA12, SRY-box 13, MGC117216
    DNA
    TYPE functioning gene
    STRUCTURE 54.62 kb     14 Exon(s)
    Genomic sequence alignment details
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status confirmed
    Physical map
    CYB5R1 1p36.13-q41 cytochrome b5 reductase 1 (B5R.1) LOC391154 1 similar to hypothetical protein 4933406M09 C1orf37 1q31.1 chromosome 1 open reading frame 37 PPFIA4 1q32.1 protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 4 MYOG 1q31-q41 myogenin (myogenic factor 4) ADORA1 1q32.1 adenosine A1 receptor MYBPH 1q32.1 myosin binding protein H CHI3L1 1q31-q32 chitinase 3-like 1 (cartilage glycoprotein-39) CHIT1 1q31-q32 chitinase 1 (chitotriosidase) LOC388729 1 LOC388729 BTG2 1q32 BTG family, member 2 FMOD 1q32.1 fibromodulin ATP2B4 1q32 ATPase, Ca++ transporting, plasma membrane 4 MGC5457 1q32.1 hypothetical protein MGC5457 LAX 1q32.1 hypothetical protein FLJ20340 KIAA0663 1q32.1 hypothetical protein FLJ20340 SNRPE 1q32 small nuclear ribonucleoprotein polypeptide E LOC391155 1 similar to KRT8 protein FLJ40343 1q32.1 hypothetical protein FLJ40343 SOX13 1q31.3-q32.1 SRY (sex determining region Y)-box 13 FLJ10761 1q32.1 putative ethanolamine kinase REN 1q32 renin KISS1 1q32 KiSS-1 metastasis-suppressor FLJ42654 1q32.1 FLJ42654 protein PEPP3 1q32.1 phosphoinositol 3-phosphate-binding protein-3 PPP1R15B 1q32.1 protein phosphatase 1, regulatory (inhibitor) subunit 15B PIK3C2B 1q32 phosphoinositide-3-kinase, class 2, beta polypeptide MDM4 1q32 Mdm4, transformed 3T3 cell double minute 4, p53 binding protein (mouse) GAC1 NFASC 1q32.1 Mdm4, transformed 3T3 cell double minute 4, p53 binding protein (mouse) CNTN2 1q32.1 contactin 2 (axonal)
    RNA
    TRANSCRIPTS type messenger
    text putative long or short forms (Argentaro 2001)
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    14 - 4088 - 622 - Marfil (2010)
    EXPRESSION
    Type
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Cardiovascularheart   highly
     vessels    
    Digestiveesophagus   highly
     mouth   highly
    Nervousnerve   highly
    Reproductivefemale systemuterus  highly
     male systemtestis  highly
    Respiratoryrespiratory tracttrachea  highly
     respiratory tractlarynx  highly
    Skin/Tegumentskin   predominantly
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Endocrineislet cell (alpha,beta...)
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    physiological period fetal, pregnancy
    Text
  • highly, in kidney, placenta
  • expressed in the developing central nervous system including the neural tube and the developing brain
  • PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • N terminal leucine-zipper Q domain
  • a central high mobility group (HMG) box DNA-binding domain
  • a neighboring glutamine stretch (D subfamily)
  • HOMOLOGY
    interspecies homolog to rattus Sox13 (89 pc)
    homolog to murine Sox13 (90.4 pc)
    homolog to Drosophila Sox102F (75 pc)
    Homologene
    FAMILY
  • SRY-related HMG box family of transcription factors
  • SoxD transcription factor family
  • CATEGORY transcription factor
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,nucleus
    basic FUNCTION
  • acting as a modulator of LINE retroposons promoter
  • involved in the regulation of embryonic development and in the determination of cell fate
  • exhibits a distinct spatial and temporal expression pattern during chondrogenesis, neurogenesis, and limb development (Wang 2006)
  • repress Wnt/TCF signaling by interacting with HNF1A (Marfil 2010)
  • modulates T cell specification and is an autoimmune antigen (Lefebvre 2010)
  • enhance transactivation by SOX9 in chondrocytes, but antagonize SOX9 and other SoxE proteins in oligodendrocytes and melanocytes, and also repress transcription through various mechanisms in several other lineages (Lefebvre 2010)
  • may have a function in signaling by the developmentally important Wnt/T cell factor (TCF) pathway (Melichar 2007)
  • CELLULAR PROCESS nucleotide, transcription, regulation
    PHYSIOLOGICAL PROCESS development
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA binding to the sequence 5'-AACAAT-3'
    RNA
    small molecule
    protein
  • interaction between HHEX (hematopoietically expressed homeobox) and SOX13 that modulates Wnt/TCF pathway activity (this interaction may contribute to control Wnt/TCF signaling in the early embryo) (Marfil 2010)
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS