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10 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
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SOX3
SRY-box transcription factor 3
Chromosome X Β· Xq27.1
NCBI Gene: 6658Ensembl: ENSG00000134595.9HGNC: HGNC:11199UniProt: P41225
73PubMed Papers
24Diseases
0Drugs
3Pathogenic Variants
FUNCTIONAL ROLE
Transcription Factor
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
protein bindingsequence-specific double-stranded DNA bindingnucleoplasmsex determinationNon-acquired isolated growth hormone deficiencypanhypopituitarism, X-linkedneurodegenerative diseaseX-linked intellectual disability with isolated growth hormone deficiency
✦AI Summary

SOX3 is an X-linked transcription factor essential for hypothalamo-pituitary axis formation and neural development 1. As a SOXB1 group member, SOX3 maintains neural progenitor identity by suppressing neuronal differentiation through counteraction of proneural proteins 2. During development, SOX3 expression is regulated by retinoic acid signaling through specific response elements in its promoter 3, with distinctive epigenetic signatures involving DNA methylation and histone modifications 2. SOX3 is critical for craniofacial morphogenesis and male sex determination, directing supporting cell precursor differentiation toward Sertoli cells 4. Loss-of-function mutations cause X-linked hypopituitarism with variable severity, ranging from isolated growth hormone deficiency to panhypopituitarism, often accompanied by ectopic posterior pituitary or persistent craniopharyngeal canal 5. In cleft lip/palate pathogenesis, SOX3 protein levels are significantly decreased, implicating it in orofacial development 4. Beyond developmental roles, SOX3 exhibits aberrant expression in multiple cancers including breast, gastric, hepatocellular, and esophageal carcinomas, modulating apoptosis, epithelial-mesenchymal transition, and cell proliferation 6. SOX3 also functions in immune regulation, with its motifs present in exhaustion-specific enhancers controlling PD-1 expression in CD8+ T cells 7.

Sources cited
1
SOX3 is required for pituitary organoid development from iPSCs and its interference impedes differentiation
PMID: 39951008
2
SOX3 promoter is hypomethylated during neural differentiation with distinctive histone modification signatures
PMID: 28886103
3
SOX3 gene expression is regulated by retinoic acid-responsive elements and retinoid receptors
PMID: 21777018
4
SOX3 protein is significantly decreased in cleft lip and palate tissue, implicating it in craniofacial morphogenesis
PMID: 37366674
5
SOX3 deletion causes X-linked hypopituitarism with variable phenotypes including growth hormone deficiency and persistent craniopharyngeal canal
PMID: 25140394
6
SOX3 exhibits dysregulation in multiple cancer types and modulates apoptosis, epithelial-mesenchymal transition, invasion, and proliferation
PMID: 38927713
7
SOX3 motifs are present in exhaustion-specific enhancers regulating PD-1 expression in CD8+ T cells
PMID: 27789799
Disease Associationsβ“˜24
Non-acquired isolated growth hormone deficiencyOpen Targets
0.73Strong
panhypopituitarism, X-linkedOpen Targets
0.64Moderate
neurodegenerative diseaseOpen Targets
0.55Moderate
X-linked intellectual disability with isolated growth hormone deficiencyOpen Targets
0.46Moderate
46,XX testicular disorder of sex developmentOpen Targets
0.38Weak
Septo-optic dysplasiaOpen Targets
0.38Weak
panhypopituitarismOpen Targets
0.38Weak
Sex reversalOpen Targets
0.37Weak
X-linked congenital generalized hypertrichosisOpen Targets
0.37Weak
familial isolated hypoparathyroidism due to agenesis of parathyroid glandOpen Targets
0.19Weak
Familial isolated hypoparathyroidismOpen Targets
0.18Weak
glioblastomaOpen Targets
0.16Weak
Abnormal sperm morphologyOpen Targets
0.12Weak
oligospermiaOpen Targets
0.12Weak
Premature ovarian insufficiencyOpen Targets
0.11Weak
osteosarcomaOpen Targets
0.08Suggestive
azoospermiaOpen Targets
0.08Suggestive
gastric cancerOpen Targets
0.08Suggestive
gliomaOpen Targets
0.07Suggestive
nail-patella syndromeOpen Targets
0.07Suggestive
46,XX sex reversal 3UniProt
Hypoparathyroidism, X-linkedUniProt
Intellectual developmental disorder, X-linked, with isolated growth hormone deficiencyUniProt
Panhypopituitarism X-linkedUniProt
Pathogenic Variants3
NM_005634.3(SOX3):c.449C>A (p.Ser150Tyr)Likely pathogenic
Intellectual disability, X-linked, with panhypopituitarism
β˜†β˜†β˜†β˜†2017β†’ Residue 150
NM_005634.3(SOX3):c.711_731dup (p.Ala248_Ser249insAlaAlaAlaAlaAlaAlaAla)Pathogenic
Panhypopituitarism, X-linked
β˜†β˜†β˜†β˜†2005β†’ Residue 248
NM_005634.3(SOX3):c.712_744dup (p.Ala248_Ser249insAlaAlaAlaAlaAlaAlaAlaAlaAlaAlaAla)Pathogenic
X-linked intellectual disability with isolated growth hormone deficiency
β˜†β˜†β˜†β˜†2002β†’ Residue 248
View on ClinVar β†—
Related Genes
DMRT1Protein interaction89%ESX1Protein interaction84%ATP11CProtein interaction80%HESX1Protein interaction77%NEUROG2Protein interaction76%OTX2Protein interaction74%
Tissue Expression6 tissues
Brain
100%
Ovary
23%
Bone Marrow
15%
Heart
0%
Lung
0%
Liver
0%
Gene Interaction Network
Click a node to explore
SOX3DMRT1ESX1ATP11CHESX1NEUROG2OTX2
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted Β· UniProt P41225
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
1.36LoF Tolerant
pLIβ“˜
0.28Tolerant
Observed/Expected LoF0.43 [0.18–1.36]
RankingsWhere SOX3 stands among ~20K protein-coding genes
  • #6,510of 20,598
    Most Researched73
  • #4,028of 5,498
    Most Pathogenic Variants3
  • #14,231of 17,882
    Most Constrained (LOEUF)1.36
Genes detectedSOX3
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
PMID: 25905388
1.00
2
The epigenetic landscape of T cell exhaustion.
PMID: 27789799
Science Β· 2016
0.90
3
Human Pituitary Organoids: Transcriptional Landscape Deciphered by scRNA-Seq and Stereo-Seq, with Insights into SOX3's Role in Pituitary Development.
PMID: 39951008
Adv Sci (Weinh) Β· 2025
0.80
4
Regulation of the SOX3 gene expression by retinoid receptors.
PMID: 21777018
Physiol Res Β· 2011
0.70
5
Epigenetic regulation of human SOX3 gene expression during early phases of neural differentiation of NT2/D1 cells.
PMID: 28886103
PLoS One Β· 2017
0.60