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GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
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SOX5
SRY-box transcription factor 5
Chromosome 12 Β· 12p12.1
NCBI Gene: 6660Ensembl: ENSG00000134532.20HGNC: HGNC:11201UniProt: F5H0I3
110PubMed Papers
21Diseases
0Drugs
84Pathogenic Variants
FUNCTIONAL ROLE
Highly ConstrainedTranscription Factor
RESEARCH IMPACT
Variant-Rich
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
transcription cis-regulatory region bindingprotein bindingpositive regulation of chondrocyte differentiationasymmetric neuroblast divisionLamb-Shaffer syndromegenetic disorderosteoarthritis, kneeAbnormality of the skeletal system
✦AI Summary

SOX5 is a transcription factor that functions primarily in chondrocyte differentiation and cartilage development. It binds the 5'-AACAAT-3' DNA motif in enhancers and super-enhancers to promote expression of cartilage-specific genes including COL2A1 and AGC1 1. SOX5 cooperates with SOX6 and SOX9 as part of the "chondrogenic SOX Trio" to potentiate transactivation of cartilage genes during overt chondrogenesis, maintaining proliferating chondroblasts and regulating hypertrophy and terminal differentiation 1. Beyond skeletal development, SOX5 serves as a key transcriptional regulator in synovial fibroblast differentiation trajectories and is predicted to regulate the emergence of specialized lining fibroblasts from mesenchymal progenitors 2. Recently, SOX5 was identified as a potent driver of cellular rejuvenation; its overexpression resets transcription networks for geroprotective genes like HMGB2, and SOX5 gene therapy alleviated osteoarthritis in aged mice 3. Additionally, SOX5 has been implicated in neurodevelopmental processes, with genetic associations to neuropsychiatric disorders and risk factors including suicide attempt 45. Heterozygous SOX5 alterations cause Lamb-Shaffer syndrome, a neurodevelopmental disorder characterized by variable intellectual disability and language delay; missense variants in the HMG domain prevent DNA binding and transactivation 6.

Sources cited
1
SOX5 cooperates with SOX6 and SOX9 in the chondrogenic SOX Trio to regulate cartilage development and chondrogenesis
PMID: 32380234
2
SOX5 is a key FLS transcription factor regulating fibroblast differentiation trajectories in synovium
PMID: 36414376
3
SOX5 overexpression drives cellular rejuvenation through HMGB2 regulation and alleviates osteoarthritis in aged mice
PMID: 37832549
4
SOX5 is associated with neurodevelopmental processes and genetic risks for neuropsychiatric disorders
PMID: 30545854
5
SOX5 is implicated as a genome-wide significant locus for suicide attempt risk
PMID: 37777856
6
Heterozygous SOX5 alterations cause Lamb-Shaffer syndrome; missense variants in the HMG domain impair DNA binding and transactivation
PMID: 31578471
Disease Associationsβ“˜21
Lamb-Shaffer syndromeOpen Targets
0.73Strong
genetic disorderOpen Targets
0.53Moderate
osteoarthritis, kneeOpen Targets
0.50Moderate
Abnormality of the skeletal systemOpen Targets
0.49Moderate
osteoarthritis, hipOpen Targets
0.48Moderate
Back painOpen Targets
0.47Moderate
major depressive disorderOpen Targets
0.47Moderate
hair colorOpen Targets
0.47Moderate
developmental and speech delay due to SOX5 deficiencyOpen Targets
0.46Moderate
vertebral column disorderOpen Targets
0.46Moderate
osteoarthritisOpen Targets
0.46Moderate
vertebral disorderOpen Targets
0.45Moderate
spinal stenosisOpen Targets
0.45Moderate
total joint arthroplastyOpen Targets
0.44Moderate
spondylosisOpen Targets
0.42Moderate
musculoskeletal system diseaseOpen Targets
0.42Moderate
Low back painOpen Targets
0.41Moderate
medical procedureOpen Targets
0.39Weak
PainOpen Targets
0.39Weak
Intervertebral disk degenerationOpen Targets
0.39Weak
Lamb-Shaffer syndromeUniProt
Pathogenic Variants84
NM_006940.6(SOX5):c.1712G>A (p.Arg571Gln)Pathogenic
Lamb-Shaffer syndrome|not provided
β˜…β˜…β˜†β˜†2025β†’ Residue 571
NM_006940.6(SOX5):c.1771G>A (p.Gly591Arg)Pathogenic
Lamb-Shaffer syndrome
β˜…β˜…β˜†β˜†2025β†’ Residue 591
NM_006940.6(SOX5):c.1711C>T (p.Arg571Trp)Pathogenic
Lamb-Shaffer syndrome|not provided|Inborn genetic diseases
β˜…β˜…β˜†β˜†2025β†’ Residue 571
NM_006940.6(SOX5):c.1691T>C (p.Met564Thr)Pathogenic
not provided|Lamb-Shaffer syndrome
β˜…β˜…β˜†β˜†2025β†’ Residue 564
NM_006940.6(SOX5):c.352C>T (p.Arg118Ter)Pathogenic
See cases|Lamb-Shaffer syndrome
β˜…β˜…β˜†β˜†2024β†’ Residue 118
NM_006940.6(SOX5):c.1672C>T (p.Arg558Cys)Pathogenic
not provided|Lamb-Shaffer syndrome
β˜…β˜…β˜†β˜†2024β†’ Residue 558
NM_006940.6(SOX5):c.637C>T (p.Arg213Ter)Pathogenic
not provided|Lamb-Shaffer syndrome
β˜…β˜…β˜†β˜†2024β†’ Residue 213
NM_006940.6(SOX5):c.1868A>G (p.Tyr623Cys)Pathogenic
Lamb-Shaffer syndrome|not provided
β˜…β˜…β˜†β˜†2023β†’ Residue 623
NM_006940.6(SOX5):c.1673G>A (p.Arg558His)Pathogenic
Lamb-Shaffer syndrome|not provided
β˜…β˜…β˜†β˜†2023β†’ Residue 558
NM_006940.6(SOX5):c.1477C>T (p.Arg493Ter)Pathogenic
Lamb-Shaffer syndrome|Inborn genetic diseases|not provided
β˜…β˜…β˜†β˜†2022β†’ Residue 493
NM_006940.6(SOX5):c.1613C>G (p.Ser538Ter)Pathogenic
Lamb-Shaffer syndrome|Inborn genetic diseases
β˜…β˜…β˜†β˜†2022β†’ Residue 538
NM_006940.6(SOX5):c.622C>T (p.Gln208Ter)Pathogenic
Lamb-Shaffer syndrome|Inborn genetic diseases
β˜…β˜…β˜†β˜†2018β†’ Residue 208
NM_006940.6(SOX5):c.1004dup (p.Leu336fs)Pathogenic
Lamb-Shaffer syndrome
β˜…β˜†β˜†β˜†2025β†’ Residue 336
NM_006940.6(SOX5):c.1814A>G (p.Tyr605Cys)Pathogenic
Lamb-Shaffer syndrome|not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 605
NM_006940.6(SOX5):c.1343-1G>CPathogenic
Inborn genetic diseases
β˜…β˜†β˜†β˜†2025
NM_006940.6(SOX5):c.351dup (p.Arg118fs)Pathogenic
not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 118
NM_006940.6(SOX5):c.270+1delLikely pathogenic
not provided
β˜…β˜†β˜†β˜†2025
NM_006940.6(SOX5):c.1639C>T (p.Arg547Ter)Pathogenic
not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 547
NM_006940.6(SOX5):c.1699G>C (p.Ala567Pro)Likely pathogenic
Lamb-Shaffer syndrome
β˜…β˜†β˜†β˜†2025β†’ Residue 567
NM_006940.6(SOX5):c.1869_1870dup (p.Lys624fs)Likely pathogenic
Lamb-Shaffer syndrome
β˜…β˜†β˜†β˜†2025β†’ Residue 624
View on ClinVar β†—
Related Genes
CTNNB1Protein interaction98%COL2A1Protein interaction90%ACANProtein interaction90%SOX13Protein interaction88%ETNK1Protein interaction86%SOX6Protein interaction83%
Tissue Expression6 tissues
Liver
100%
Brain
57%
Ovary
49%
Heart
33%
Lung
16%
Bone Marrow
14%
Gene Interaction Network
Click a node to explore
SOX5CTNNB1COL2A1ACANSOX13ETNK1SOX6
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted Β· UniProt P35711
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
0.20Highly Constrained
pLIβ“˜
1.00Intolerant
Observed/Expected LoF0.11 [0.07–0.20]
RankingsWhere SOX5 stands among ~20K protein-coding genes
  • #4,334of 20,598
    Most Researched110 Β· top quartile
  • #892of 5,498
    Most Pathogenic Variants84 Β· top quartile
  • #474of 17,882
    Most Constrained (LOEUF)0.20 Β· top 5%
Genes detectedSOX5
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
Genome-wide CRISPR activation screening in senescent cells reveals SOX5 as a driver and therapeutic target of rejuvenation.
PMID: 37832549
Cell Stem Cell Β· 2023
1.00
2
Regulation and function of SOX9 during cartilage development and regeneration.
PMID: 32380234
Semin Cancer Biol Β· 2020
0.90
3
Synovial fibroblasts assume distinct functional identities and secrete R-spondin 2 in osteoarthritis.
PMID: 36175067
Ann Rheum Dis Β· 2023
0.80
4
Integrative functional genomic analysis of human brain development and neuropsychiatric risks.
PMID: 30545854
Science Β· 2018
0.70
5
The role of SOX family members in solid tumours and metastasis.
PMID: 30914279
Semin Cancer Biol Β· 2020
0.60