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FLASH GENE
Symbol SOX5 contributors: shn/pgu - updated : 09-05-2010
HGNC name SRY (sex determining region Y)-box 5
HGNC id 11201
Location 12p12.1      Physical location : 23.685.231 - 24.715.380
Synonym symbol(s) L-SOX5, MGC35153
DNA
TYPE functioning gene
STRUCTURE 1030.15 kb     15 Exon(s)
10 Kb 5' upstream gene genomic sequence study
MAPPING cloned Y linked   status provisional
Map pter - D12S1688 - D12S1606 - SOX5 - D12S1617 - D12S1596 - cen
Physical map
SLCO1A2 12p12 solute carrier organic anion transporter family, member 1A2 IAPP 12p12.3-p12.2 islet amyloid polypeptide FLJ22028 12p12.3 hypothetical protein FLJ22028 RECQL 12p12-p11 RecQ protein-like (DNA helicase Q1-like) CGI-141 12p12.3 CGI-141 protein MGC10946 12p12.3 hypothetical protein MGC10946 GYS2 12p12.2 glycogen synthase 2 (liver) LDHB 12p12.2-p12.1 lactate dehydrogenase B KCNJ8 12p11.23 potassium inwardly-rectifying channel, subfamily J, member 8 ABCC9 12p12.1 ATP-binding cassette, sub-family C (CFTR/MRP), member 9 CMAS 12p13.2 cytidine monophosphate N-acetylneuraminic acid synthetase SIAT8A 12p12.3-p12.2 sialyltransferase 8A (alpha-N-acetylneuraminate: alpha-2,8-sialyltransferase, GD3 synthase) KIAA0528 12p12.2 sialyltransferase 8A (alpha-N-acetylneuraminate: alpha-2,8-sialyltransferase, GD3 synthase) EKI1 12p12.3 sialyltransferase 8A (alpha-N-acetylneuraminate: alpha-2,8-sialyltransferase, GD3 synthase) SOX5 12p12.1 SRY (sex determining region Y)-box 5 FLJ32894 12p12.1 hypothetical protein FLJ32894 LOC387846 12 LOC387846 BCAT1 12pter-q12 branched chain aminotransferase 1, cytosolic LOC121153 12p12.1 similar to Brain protein I3 (pRGR2) LOC387847 12 LOC387847 LRMP 12p12.1 lymphoid-restricted membrane protein LAS1 LOC144363 12p12.1 hypothetical protein LOC144363 KRAS2 12p12.1 v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog FLJ36004 12p12.1 hypothetical protein FLJ36004
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
18 splicing 4563 - 750 - -
15 splicing 4333 - 763 - -
7 splicing 095 - 377 - -
EXPRESSION
Type widely
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Nervousbrainforebrain  highly
 spinal cord   highly
Reproductivemale systemtestis  highly
Respiratorylung   moderately
Urinarykidney   lowly
cell lineage mainly expressed in neural progenitors
cell lines
fluid/secretion
at STAGE
physiological period fetal
Text
  • brain
  • coexpression of SHOX, SOX5, SOX6 and SOX9 in the fetal growth plate
  • PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • a high mobility group (HMG) domain
  • a leucine zipper
  • a glutamine-rich domain
  • a transactivation domain in the carboxyl terminus (transcription activation)
  • HOMOLOGY
    interspecies ortholog to Sox5, Mus musculus
    ortholog to SOX5, Pan troglodytes
    ortholog to sox5, Danio rerio
    ortholog to Sox5, Rattus norvegicus
    Homologene
    FAMILY
  • SOX (SRY-related HMG-box) family of transcription factors
  • SoxD transcription factor family
  • CATEGORY transcription factor
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,nucleus,chromatin/chromosome
    basic FUNCTION
  • involved in the regulation of embryonic development and in the determination of the cell fate
  • involved in the formation of the cephalic neural crest
  • a long form, expressed in chondrogenesis coactivator in association with SOX6 and SOX9 of the chondrocyte-specific enhancer of COL2A1
  • modulator of LINE retroposons promoter activity
  • sex-determining region Y
  • transcription factor that has been shown to regulate chondrogenesis, oligodendrogenesis, and the sequential generation of cortical neurons
  • postmitotically controls the laminar positioning, molecular differentiation, and layer-specific pattern of subcortical axonal projections of subplate and deep-layer neurons
  • essential for endochondral skeleton formation
  • regulates several stages of oligodendrocyte development in spinal cord
  • controls the sequential generation of distinct pallium-derived excitatory corticofugal projection neuron populations, regulating their subtype diversity
  • a role in roles in the generation of neuronal diversity during neocortical development
  • redundantly enhance chondrogenesis, but retard gliogenesis, and hinders melanogenesis, promotes neural crest generation, and controls the pace of neurogenesis
  • 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
  • can regulates the timing of cell cycle exit by opposing WNT
  • beta-catenin activity on cell cycle progression
  • important brake on WNT
  • beta-catenin mitogenic activity during the progression of neurogenesis
  • negatively regulates cell cycle progression and it is necessary and sufficient to promote cell cycle arrest at the G1
  • S transition
    CELLULAR PROCESS nucleotide, transcription, regulation
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA binding specifically to sequence 5'-AACAAT-3'
    RNA
    small molecule
    protein
  • SRY (sex determining region Y)-box 6, SOX6
  • SHOX cooperates with SOX5/SOX6 and SOX9 in the activation of the upstream ACAN enhancer
  • SOX5 transactivates TWIST1 expression and plays an important role in the regulation of breast cancer progression
  • SOX5 and MAF cooperatively induce Th17 cell differentiation via the induction of RORC as downstream targets of STAT3
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral   amplification    
    coamplified with DADR and EKI1 in testicular seminoma
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
  • Sox6 single null mice are born with mild skeletal abnormalities
  • Sox5-Sox6 double null fetuses die with a severe, generalized chondrodysplasia