Browse All / Genes / SOX2

SOX2

SRY-box transcription factor 2
6 disorders 3 untyped 1 no genetic record 1 susceptibility 1 causative 3q26.33 gene with protein product
HGNC:11195MonarchNCBI Gene 6657ENSG00000181449UniProt P48431OMIM 184429
Normal function · from ai-gene-review (P48431, commit 79fe13b38970) · AI-generated, not KB evidence

SOX2 is a SOXB1 family transcription factor containing an HMG-box domain that binds the minor groove of DNA and functions as a pioneer factor. As a core pluripotency factor (one of the Yamanaka factors), SOX2 maintains embryonic stem cell self-renewal and neural stem cell identity. It cooperates with OCT4 on composite Sox/Oct DNA motifs to regulate thousands of enhancers controlling pluripotency and early neural fate specification. SOX2 is essential for maintaining neural progenitor cells in an undifferentiated state and preventing premature neuronal differentiation. Nuclear localization is regulated by NLS/NES sequences and post-translational modifications including methylation, acetylation, SUMOylation, and ubiquitination.

SOX2 functions as a sequence-specific DNA-binding transcription factor with an HMG-box domain that binds Sox motifs (WWCAAW consensus). Acts as a pioneer factor engaging nucleosomal DNA to maintain chromatin accessibility at regulatory enhancers. Primarily activates transcription cooperating with OCT4 on composite Sox/Oct motifs, but also functions as a repressor when SUMOylated.
molecular function: DNA-binding transcription activator activity, RNA polymerase II-specific · directly involved in: positive regulation of transcription by RNA polymerase II; negative regulation of transcription by RNA polymerase II · locations: nucleus; chromatin
SOX2 is one of the four Yamanaka factors (with OCT4, KLF4, and MYC) sufficient for reprogramming somatic cells to induced pluripotent stem cells. Forms transcriptional regulatory complexes with OCT4 and NANOG to maintain embryonic stem cell self-renewal and pluripotency.
molecular function: DNA-binding transcription activator activity, RNA polymerase II-specific · directly involved in: somatic stem cell population maintenance · locations: nucleus
SOX2 maintains neural stem cells in an undifferentiated state and prevents premature neuronal differentiation by counteracting proneural factors. Essential for neural progenitor self-renewal and maintaining the neural stem cell pool throughout the nervous system.
molecular function: DNA-binding transcription activator activity, RNA polymerase II-specific · directly involved in: neuronal stem cell population maintenance; negative regulation of neuron differentiation · locations: nucleus
In the knowledge base · computed from kb/ at build time

Disorders

Relationship is the entry's genetic[].relationship_type. untyped means the entry has a genetic record for the gene but does not type it; its free-text association is shown instead.

DisorderRelationshipWhere the gene appears
Esophageal Atresia susceptibility
Isolated Anophthalmia-Microphthalmia Syndrome causative
mechanism: Eye Field Transcription Factor Network Dosage Loss
Esophageal Squamous Cell Carcinoma untyped
Lineage Oncogene Amplification
mechanism: SOX2/TP63 Lineage Program Activation
Laryngotracheoesophageal Cleft untyped
Associated
Microphthalmia with Coloboma untyped
Causal dominant variant (often de novo)
mechanism: Disrupted optic-cup and globe morphogenesis
subtype: SOX2-MAC
scoped to subtype: SOX2-MAC
Embryonal Carcinoma no genetic record
mechanism: Retained Embryonic Pluripotency Program
Mechanism modules · computed from kb/

Identity from HGNC (snapshot 2026-10-01). Page layers are described in the gene pages documentation.