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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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SCX
scleraxis bHLH transcription factor
Chromosome 8 · 8q24.3
NCBI Gene: 642658Ensembl: ENSG00000260428.4HGNC: HGNC:32322UniProt: Q7RTU7
25PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Transcription Factor
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein bindingbHLH transcription factor bindingpositive regulation of transcription by RNA polymerase IIDNA-binding transcription activator activity, RNA polymerase II-specificatrial fibrillationDupuytren Contracturetype 2 diabetes mellitusIsolated anophthalmia - microphthalmia
✦AI Summary

SCX (scleraxis) is a bHLH transcription factor that functions as a DNA-binding transcriptional regulator with critical roles in musculoskeletal development and tissue regeneration. Mechanistically, SCX acts as an RNA polymerase II-specific transcriptional activator that binds E-box elements to regulate gene expression during developmental processes 1. SCX marks distinct progenitor populations essential for tendon and ligament development; embryonic tendon-to-bone attachments develop from unique Sox9- and Scx-positive cells that are distinct from mature tenocytes and chondrocytes 2. In mature tendons, SCX identifies a specialized quiescent Scx+/Axin2+ population that serves as a major functional contributor to tendon healing and repair, expressing stem cell markers with multilineage differentiation potential 3. Following tendon injury, Scx-lineage tenocytes show increased proliferation and migration regulated by PI3K-Akt signaling, which promotes stemness and inhibits mature differentiation during neonatal tendon regeneration 4. Clinically, SCX-marked cells represent a promising therapeutic target for enhancing tendon repair, particularly given that pediatric tendons heal more efficiently than adult tendons with minimal scarring 4. The ability to identify and potentially expand Scx+ progenitor populations could inform regenerative medicine approaches for treating tendon injuries, which currently carry high recurrence rates 2.

Sources cited
1
SCX marks progenitor populations essential for tendon and ligament development and is discussed as a key marker in developmental mechanisms
PMID: 33913478
2
Tendon-to-bone attachments develop from unique Sox9- and Scx-positive cells distinct from mature tenocytes and chondrocytes; SCX+ cells regulate attachment development
PMID: 24677726
3
SCX marks a specialized quiescent Scx+/Axin2+ population in tendons that initiates healing, expresses stem cell markers, has multilineage differentiation potential, and organizes tissue repair through Wnt signaling
PMID: 39420021
4
PI3K-Akt signaling regulates Scx-lineage tenocytes, promoting cell proliferation and migration while inhibiting mature differentiation during neonatal tendon regeneration
PMID: 40254618
⚠Limited data available — This gene has 4 indexed publications. Summary and analysis may be incomplete.
Disease Associationsⓘ20
atrial fibrillationOpen Targets
0.09Suggestive
Dupuytren ContractureOpen Targets
0.07Suggestive
type 2 diabetes mellitusOpen Targets
0.07Suggestive
Isolated anophthalmia - microphthalmiaOpen Targets
0.06Suggestive
microphthalmiaOpen Targets
0.06Suggestive
isolated microphthalmia 7Open Targets
0.05Suggestive
nanophthalmiaOpen Targets
0.05Suggestive
nanophthalmos 2Open Targets
0.05Suggestive
lymphatic malformation 11Open Targets
0.05Suggestive
hereditary angioedemaOpen Targets
0.04Suggestive
Microphthalmia - ankyloblepharon - intellectual disabilityOpen Targets
0.04Suggestive
lumbar disc herniationOpen Targets
0.04Suggestive
Palmar FibromatosisOpen Targets
0.04Suggestive
hereditary angioedema with normal C1InhOpen Targets
0.04Suggestive
LipedemaOpen Targets
0.04Suggestive
lymphatic malformation 8Open Targets
0.04Suggestive
lymphatic malformation 14Open Targets
0.03Suggestive
Milroy diseaseOpen Targets
0.03Suggestive
acromesomelic dysplasia 2AOpen Targets
0.03Suggestive
Acromesomelic dysplasia, Grebe typeOpen Targets
0.03Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
TNMDProtein interaction95%MKXProtein interaction95%PAX1Protein interaction71%BMPR1BShared pathway17%SMAD5Shared pathway14%GATA1Shared pathway14%
Tissue Expression6 tissues
Lung
100%
Ovary
75%
Liver
70%
Bone Marrow
45%
Heart
43%
Brain
20%
Gene Interaction Network
Click a node to explore
SCXTNMDMKXPAX1BMPR1BSMAD5GATA1
PROTEIN STRUCTURE
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AlphaFoldAI-predicted · UniProt Q7RTU7
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
1.94LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF1.59 [0.83–1.94]
RankingsWhere SCX stands among ~20K protein-coding genes
  • #13,060of 20,598
    Most Researched25
  • #17,587of 17,882
    Most Constrained (LOEUF)1.94
Genes detectedSCX
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Investigation of multipotent postnatal stem cells from human periodontal ligament.
PMID: 15246727
Lancet · 2004
1.00
2
Toward a comprehensive characterization of a human cancer cell phosphoproteome.
PMID: 23186163
J Proteome Res · 2013
0.90
3
PI3K-Akt signalling regulates Scx-lineage tenocytes and Tppp3-lineage paratenon sheath cells in neonatal tendon regeneration.
PMID: 40254618
Nat Commun · 2025
0.80
4
A latent Axin2
PMID: 39420021
NPJ Regen Med · 2024
0.70
5
Strong cation exchange (SCX) based analytical methods for the targeted analysis of protein post-translational modifications.
PMID: 20926283
Curr Opin Biotechnol · 2011
0.60