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10 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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SOX30
SRY-box transcription factor 30
Chromosome 5 · 5q33.3
NCBI Gene: 11063Ensembl: ENSG00000039600.11HGNC: HGNC:30635UniProt: B4DXW7
36PubMed Papers
20Diseases
0Drugs
1Pathogenic Variants
FUNCTIONAL ROLE
Transcription Factor
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
RNA polymerase II cis-regulatory region sequence-specific DNA bindingprotein bindingbeta-catenin bindingsequence-specific double-stranded DNA bindingmale infertilityspinal cord injuryneoplasmazoospermia
✦AI Summary

SOX30 is a transcription factor that functions both as an activator and repressor, playing crucial roles in male fertility and tumor suppression. In spermatogenesis, SOX30 is essential for meiotic exit and activation of postmeiotic genes, with knockout resulting in arrest at early round spermatid stages 1. The protein requires interaction with HDAC3 for proper function, and mutations disrupting this interaction contribute to non-obstructive azoospermia in humans 1. SOX30 coordinates with NKAPL to facilitate transcription elongation during the meiotic-to-postmeiotic switch 2. In cancer, SOX30 acts as a tumor suppressor through multiple mechanisms. In lung adenocarcinoma, it directly binds to ACAAT motifs in desmosomal gene promoters, activating their transcription and inhibiting tumor growth and metastasis 3. In prostate cancer, SOX30 suppresses proliferation and invasion by inhibiting Wnt/β-catenin signaling 4. SOX30 is frequently hypermethylated in acute myeloid leukemia, correlating with poor prognosis and reduced overall survival 5. The gene shows gonad-specific expression patterns across species and undergoes alternative splicing with sex-specific expression during gonadal development 6.

Sources cited
1
SOX30 is essential for meiotic exit and postmeiotic gene activation; mutations cause non-obstructive azoospermia
PMID: 41269228
2
SOX30 coordinates with NKAPL for transcription elongation during meiotic-to-postmeiotic switch
PMID: 39824811
3
SOX30 binds ACAAT motifs in desmosomal gene promoters and suppresses lung adenocarcinoma
PMID: 29855376
4
SOX30 inhibits prostate cancer cell proliferation and invasion via Wnt/β-catenin pathway suppression
PMID: 31889959
5
SOX30 hypermethylation in AML correlates with poor prognosis and reduced survival
PMID: 30002740
6
SOX30 shows gonad-specific expression and undergoes alternative splicing during development
PMID: 21143990
Disease Associationsⓘ20
male infertilityOpen Targets
0.26Weak
spinal cord injuryOpen Targets
0.26Weak
neoplasmOpen Targets
0.11Weak
azoospermiaOpen Targets
0.10Weak
AIDS dementiaOpen Targets
0.10Suggestive
partial chromosome Y deletionOpen Targets
0.10Suggestive
breast cancerOpen Targets
0.09Suggestive
lung cancerOpen Targets
0.09Suggestive
non-small cell lung carcinomaOpen Targets
0.09Suggestive
spermatogenic failure 50Open Targets
0.09Suggestive
spermatogenic failure 57Open Targets
0.09Suggestive
squamous cell carcinomaOpen Targets
0.09Suggestive
spermatogenic failure 25Open Targets
0.09Suggestive
spermatogenic failure, X-linked, 2Open Targets
0.09Suggestive
spermatogenic failure 71Open Targets
0.09Suggestive
spermatogenic failure 61Open Targets
0.09Suggestive
spermatogenic failure 62Open Targets
0.09Suggestive
spermatogenic failure 88Open Targets
0.09Suggestive
spermatogenic failure 60Open Targets
0.09Suggestive
spermatogenic failure 73Open Targets
0.09Suggestive
Pathogenic Variants1
NM_178424.2(SOX30):c.1550C>G (p.Ser517Cys)Likely pathogenic
Male infertility
☆☆☆☆2019→ Residue 517
View on ClinVar ↗
Related Genes
SPANXB1Shared pathway50%SPACDRShared pathway50%DPY19L2Shared pathway50%APCDD1LShared pathway50%CCDC42Shared pathway50%CCDC159Shared pathway50%
Tissue Expression6 tissues
Bone Marrow
100%
Heart
95%
Ovary
27%
Brain
20%
Lung
14%
Liver
14%
Gene Interaction Network
Click a node to explore
SOX30SPANXB1SPACDRDPY19L2APCDD1LCCDC42CCDC159
PROTEIN STRUCTURE
Preparing viewer…
PDB7JJK · 1.40 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.49Moderately Constrained
pLIⓘ
0.99Intolerant
Observed/Expected LoF0.33 [0.22–0.49]
RankingsWhere SOX30 stands among ~20K protein-coding genes
  • #10,871of 20,598
    Most Researched36
  • #5,206of 5,498
    Most Pathogenic Variants1
  • #2,920of 17,882
    Most Constrained (LOEUF)0.49 · top quartile
Genes detectedSOX30
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Multifaceted roles and functions of SOX30 in human cancer.
PMID: 38946929
Cancer Innov · 2024
1.00
2
The role of SOX family members in solid tumours and metastasis.
PMID: 30914279
Semin Cancer Biol · 2020
0.90
3
NKAPL facilitates transcription pause-release and bridges elongation to initiation during meiosis exit.
PMID: 39824811
Nat Commun · 2025
0.80
4
SOX30, a target gene of miR-653-5p, represses the proliferation and invasion of prostate cancer cells through inhibition of Wnt/β-catenin signaling.
PMID: 31889959
Cell Mol Biol Lett · 2019
0.70
5
SOX30 is a key regulator of desmosomal gene suppressing tumor growth and metastasis in lung adenocarcinoma.
PMID: 29855376
J Exp Clin Cancer Res · 2018
0.60