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Symbol SOX5 contributors: shn/pgu - updated : 20-03-2019
HGNC name SRY (sex determining region Y)-box 5
HGNC id 11201
TYPE functioning gene
STRUCTURE 1033.20 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
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
18 splicing 4563 - 750 - 2017 28585545
15 splicing 4333 - 763 - 2017 28585545
7 splicing 5926 48 377 - 2017 28137312
  • S-SOX5
  • S-SOX5 directly interacts with the SPAG16L promoter
  • may regulate formation of motile cilia/flagella through globally mediating expression of genes encoding axonemal proteins
  • 17 - 7251 - 642 - 2017 28585545
    15 - 7021 - 728 - 2017 28585545
    15 - 7150 - 753 - 2017 28585545
    Type widely
       expressed in (based on citations)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Cardiovascularheart     Homo sapiens
    Nervousbrainforebrain    Homo sapiens
     spinal cord   highly
    Reproductivemale systemtestis  highly
    Respiratorylung     Homo sapiens
    cell lineage mainly expressed in neural progenitors
    cell lines
    at STAGE
    physiological period fetal
  • brain
  • coexpression of SHOX, SOX5, SOX6 and SOX9 in the fetal growth plate
  • a high mobility group (HMG) domain
  • a leucine zipper
  • a glutamine-rich domain
  • a transactivation domain in the carboxyl terminus (transcription activation)
    interspecies ortholog to Sox5, Mus musculus
    ortholog to SOX5, Pan troglodytes
    ortholog to sox5, Danio rerio
    ortholog to Sox5, Rattus norvegicus
    ortholog to Drosophila Sox102F
  • SOX (SRY-related HMG-box) family of transcription factors
  • SoxD transcription factor family
  • CATEGORY transcription factor
    SUBCELLULAR LOCALIZATION     intracellular
    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
  • controls the timing of cell cycle exit by neural progenitors at the G1-S transition by counteracting the mitotic effect of the WNT-CTNNB1 pathway
  • is an important brake on WNT-CTNNB1 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
  • transcription factor involved in the regulation of nervous system development and chondrogenesis
  • controls dorsal progenitor and interneuron specification in the spinal cord
  • SOX9 and SOX5/SOX6 thus cooperate genome-wide, primarily through super-enhancers (SEs), to implement the growth plate chondrocyte differentiation program
  • transcription factors SOX5 and SOX6 exert direct and indirect influences on oligodendroglial migration in spinal cord and forebrain
  • islets in T2D display changes reminiscent of dedifferentiation and SOX5 is a regulator of beta-cell phenotype and function
  • SOX5 is a critical modulator of neurite outgrowth through the selective activation of DPYSL5 expression
  • SOX9 (SOXE group) is essential for chondrocyte fate maintenance and differentiation, and works in cooperation with SOX5 and SOX6 (SOXD group) and other types of transcription factors
  • CELLULAR PROCESS nucleotide, transcription, regulation
    a component
    DNA binding specifically to sequence 5'-AACAAT-3'
    small molecule
  • SRY (sex determining region Y)-box 6, SOX6
  • SHOX cooperates with SOX5/SOX6 and SOX9 in the activation of the upstream ACAN enhancer
  • SOX8 expression is regulated by SOX9, and both together with SOX5 and SOX6 are required as a SOX quartet for transcription of COL2A1 and a large number of other chondrogenic molecules
  • 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
  • transcription factors SOX5 and SOX9 caused a significant increase in transactivation of the CATSPER1 promoter in heterologous systems, and both transcription factors interact with the CATSPER1 promoter
  • SOX5 exerts its function by restricting dorsally WNT signaling activity via direct transcriptional induction of the negative WNT pathway regulator AXIN2
  • SOX5 has a strong inhibitory effect on MITF expression and seems to have a decisive clinical impact on melanoma during tumor progression
  • SOX5 increases DPYSL5 promoter activity, but not if the putative SOX5 binding site is mutated
  • cell & other
    corresponding disease(s) LAMSHF
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral   amplification    
    coamplified with DADR and EKI1 in testicular seminoma
    tumoral     --over  
    in breast cancer tissues compared with adjacent healthy tissues, and overexpression of SOX5 was associated with a reduced overall survival rate in patients with breast cancer
    Variant & Polymorphism
    Candidate gene
  • novel candidate gene for late-onset familial Alzheimer disease (LOAD with an important role in neuronal function
  • Marker
    Therapy target
    candidate therapeutic target in breast cancer progression
    may be a potential therapeutic target for HCC metastasis
  • Sox6 single null mice are born with mild skeletal abnormalities
  • Sox5-Sox6 double null fetuses die with a severe, generalized chondrodysplasia
  • silencing of the Drosophila ortholog of Sox5 leads to abnormal neuronal development and behavioral impairment