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FLASH GENE
Symbol SOX5 contributors: shn/pgu - updated : 20-03-2019
HGNC name SRY (sex determining region Y)-box 5
HGNC id 11201
Corresponding disease
LAMSHF Lamb-Shaffer syndrome
Location 12p12.1      Physical location : 23.685.231 - 24.715.380
Synonym name
  • transcription factor SOX-5
  • Synonym symbol(s) L-SOX5, MGC35153, L-SOX5B, L-SOX5F, LAMSHF
    DNA
    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
    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 - 2017 28585545
    15 splicing 4333 - 763 - 2017 28585545
    7 splicing 5926 - 377 - 2017 28585545
    17 - 7251 - 642 - 2017 28585545
    15 - 7021 - 728 - 2017 28585545
    15 - 7150 - 753 - 2017 28585545
    EXPRESSION
    Type widely
       expressed in (based on citations)
    organ(s)
    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
    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
    ortholog to Drosophila Sox102F
    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
  • 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
  • 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
  • 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
  • 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
    REGULATION
    ASSOCIATED DISORDERS
    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
    Susceptibility
    Variant & Polymorphism
    Candidate gene
  • novel candidate gene for late-onset familial Alzheimer disease (LOAD with an important role in neuronal function
  • Marker
    Therapy target
    SystemTypeDisorderPubmed
    cancerreproductivebreast
    candidate therapeutic target in breast cancer progression
    cancerdigestiveliver
    may be a potential therapeutic target for HCC metastasis
    ANIMAL & CELL MODELS
  • 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