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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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SOX14
SRY-box transcription factor 14
Chromosome 3 · 3q22.3
NCBI Gene: 8403Ensembl: ENSG00000168875.3HGNC: HGNC:11193UniProt: O95416
28PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Transcription Factor
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein bindingsequence-specific double-stranded DNA bindingDNA-binding transcription activator activity, RNA polymerase II-specificchromatinmixed connective tissue diseasemyopathyintelligenceadolescent idiopathic scoliosis
✦AI Summary

SOX14 is a Group B SRY-box transcription factor that functions as a sequence-specific DNA-binding protein involved in developmental regulation 1. As a member of the SOX gene family, SOX14 contains the characteristic HMG-box domain responsible for DNA binding and serves as a putative transcriptional regulator 1. The protein is expressed in developing neural tissues, including the foetal brain, spinal cord, and notably the apical ectodermal ridge of developing limb buds, suggesting important roles in nervous system and limb development 2. Human SOX14 maps to chromosome 3 and shows remarkable sequence conservation across vertebrate species, indicating functional significance 3. The SOX14 promoter contains a functional CCAAT box motif essential for gene transcription 4. While initially proposed as a candidate gene for craniofacial and limb defects associated with Blepharophimosis-ptosis-epicanthus inversus syndrome and Möbius syndrome, subsequent fine mapping excluded SOX14's involvement in these disorders 3. In hematological malignancies, SOX14 is overexpressed in approximately 10-22% of acute myeloid leukemia patients, with preliminary evidence suggesting prognostic significance 5. The ancestral synteny between SOX2 and SOX14 has been conserved for over 170 million years of mammalian evolution, underscoring the evolutionary importance of these linked genes 6.

Sources cited
1
SOX14 is a Group B SOX gene family member with HMG-box domain for DNA binding; expressed in foetal brain, spinal cord, and thymus; involved in nervous system development regulation
PMID: 9925951
2
SOX14 is expressed in neural tube and apical ectodermal ridge of developing limb; is the only known SOX gene expressed in apical ectodermal ridge; candidate gene for limb defects
PMID: 10798354
3
SOX14 localizes to chromosome 3q23; shows sequence conservation across vertebrates; unlikely involved in BPES, CMT2B, or MBS2 disorders based on fine mapping
PMID: 10830911
4
SOX14 promoter contains functional CCAAT box motif essential for gene transcription
PMID: 15451172
5
SOX14 is overexpressed in 10-22% of acute myeloid leukemia patients with potential prognostic significance
PMID: 29428447
6
SOX2 and SOX14 synteny conserved for 170 million years between humans and platypus, indicating evolutionary importance
PMID: 12584449
Disease Associationsⓘ20
mixed connective tissue diseaseOpen Targets
0.29Weak
myopathyOpen Targets
0.27Weak
intelligenceOpen Targets
0.26Weak
adolescent idiopathic scoliosisOpen Targets
0.25Weak
Crohn's diseaseOpen Targets
0.22Weak
chondromalaciaOpen Targets
0.22Weak
ankylosing spondylitisOpen Targets
0.21Weak
psoriasisOpen Targets
0.21Weak
ulcerative colitisOpen Targets
0.21Weak
neuromuscular diseaseOpen Targets
0.21Weak
prostate carcinomaOpen Targets
0.20Weak
attention deficit hyperactivity disorderOpen Targets
0.20Weak
autism spectrum disorderOpen Targets
0.20Weak
sclerosing cholangitisOpen Targets
0.19Weak
spinal cord injuryOpen Targets
0.19Weak
ovarian dysfunctionOpen Targets
0.18Weak
benign chondrogenic neoplasmOpen Targets
0.18Weak
Abnormality of limbsOpen Targets
0.17Weak
Escherichia coli InfectionsOpen Targets
0.17Weak
osteitis deformansOpen Targets
0.17Weak
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
SOX2Protein interaction74%NOTOShared pathway50%GSX1Shared pathway50%VAX1Shared pathway50%EMX2Shared pathway50%EMX1Shared pathway50%
Tissue Expression6 tissues
Brain
100%
Lung
0%
Ovary
0%
Heart
0%
Bone Marrow
0%
Liver
0%
Gene Interaction Network
Click a node to explore
SOX14SOX2NOTOGSX1VAX1EMX2EMX1
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt O95416
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
0.72LoF Tolerant
pLIⓘ
0.61Intermediate
Observed/Expected LoF0.34 [0.18–0.72]
RankingsWhere SOX14 stands among ~20K protein-coding genes
  • #12,452of 20,598
    Most Researched28
  • #5,561of 17,882
    Most Constrained (LOEUF)0.72
Genes detectedSOX14
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Characterisation and mapping of the human SOX14 gene.
PMID: 9925951
Cytogenet Cell Genet · 1998
1.00
2
SOX14 is a candidate gene for limb defects associated with BPES and Möbius syndrome.
PMID: 10798354
Hum Genet · 2000
0.90
3
Fine mapping of the neurally expressed gene SOX14 to human 3q23, relative to three congenital diseases.
PMID: 10830911
Hum Genet · 2000
0.80
4
Prognostic significance of SOX2, SOX3, SOX11, SOX14 and SOX18 gene expression in adult de novo acute myeloid leukemia.
PMID: 29428447
Leuk Res · 2018
0.70
5
Structural and functional characterization of the human SOX14 promoter.
PMID: 15451172
Biochim Biophys Acta · 2004
0.60