SOX2 Chromosome 3
SRY-box transcription factor 2
Upload your DNA to see your personal genotypes for variants in SOX2.
What This Gene Does
This intronless gene encodes a member of the SRY-related HMG-box (SOX) family of transcription factors involved in the regulation of embryonic development and in the determination of cell fate. The product of this gene is required for stem-cell maintenance in the central nervous system, and also regulates gene expression in the stomach. Mutations in this gene have been associated with optic nerve hypoplasia and with syndromic microphthalmia, a severe form of structural eye malformation. This gene lies within an intron of another gene called SOX2 overlapping transcript (SOX2OT). [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
SRY-box transcription factors
Locus Type
gene with protein product
Location
3q26.33
Ensembl
ENSG00000181449
Associated Conditions (11)
Anophthalmia/microphthalmia-esophageal atresia syndrome
Inborn genetic diseases
Optic nerve hypoplasia and abnormalities of the central nervous system
Amenorrhea
Chorioretinal coloboma
SOX2-related disorder
Septo-optic dysplasia sequence
Anophthalmia
Microphthalmia
Intellectual disability
Developmental disorder
Key Variants
RS1007978252
Conflicting classifications of pathogenicity
Anophthalmia/microphthalmia-esophageal atresia syndrome, Inborn genetic diseases, Anophthalmia/microphthalmia-esophageal atresia syndrome
Health Risk
RS121918652
Conflicting classifications of pathogenicity
Optic nerve hypoplasia and abnormalities of the central nervous system, Anophthalmia/microphthalmia-esophageal atresia syndrome, Optic nerve hypoplasia and abnormalities of the central nervous system
Health Risk
RS1247705831
Conflicting classifications of pathogenicity
Anophthalmia/microphthalmia-esophageal atresia syndrome, Inborn genetic diseases, Anophthalmia/microphthalmia-esophageal atresia syndrome
Health Risk
RS1338979266
Conflicting classifications of pathogenicity
Anophthalmia/microphthalmia-esophageal atresia syndrome, Inborn genetic diseases, Anophthalmia/microphthalmia-esophageal atresia syndrome
Health Risk
RS199887134
Conflicting classifications of pathogenicity
Anophthalmia/microphthalmia-esophageal atresia syndrome, Anophthalmia/microphthalmia-esophageal atresia syndrome
Health Risk
RS2473716820
Conflicting classifications of pathogenicity
Anophthalmia/microphthalmia-esophageal atresia syndrome, Anophthalmia/microphthalmia-esophageal atresia syndrome
Health Risk
RS727504169
Conflicting classifications of pathogenicity
Amenorrhea, Anophthalmia/microphthalmia-esophageal atresia syndrome, Amenorrhea
Health Risk
RS757913217
Conflicting classifications of pathogenicity
Anophthalmia/microphthalmia-esophageal atresia syndrome, Anophthalmia/microphthalmia-esophageal atresia syndrome
Health Risk
RS763171566
Conflicting classifications of pathogenicity
Anophthalmia/microphthalmia-esophageal atresia syndrome, Anophthalmia/microphthalmia-esophageal atresia syndrome
Health Risk
RS1553862987
Likely pathogenic
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1714843059
Likely pathogenic
Anophthalmia/microphthalmia-esophageal atresia syndrome, Anophthalmia/microphthalmia-esophageal atresia syndrome
Health Risk
RS1714847764
Likely pathogenic
Anophthalmia/microphthalmia-esophageal atresia syndrome, Anophthalmia/microphthalmia-esophageal atresia syndrome
Health Risk
All Variants (86)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1714864777 | Health Risk | Pathogenic | Anophthalmia/microphthalmia-esophageal atresia syndrome, Anophthalmia/microphthalmia-esophageal atresia syndrome |
| RS1714875635 | Health Risk | Pathogenic | Anophthalmia/microphthalmia-esophageal atresia syndrome, Anophthalmia/microphthalmia-esophageal atresia syndrome |
| RS1714882477 | Health Risk | Pathogenic | Anophthalmia/microphthalmia-esophageal atresia syndrome, Anophthalmia/microphthalmia-esophageal atresia syndrome |
| RS1714883683 | Health Risk | Pathogenic | Anophthalmia/microphthalmia-esophageal atresia syndrome, Anophthalmia/microphthalmia-esophageal atresia syndrome |
| RS1714883776 | Health Risk | Pathogenic | Anophthalmia/microphthalmia-esophageal atresia syndrome, Anophthalmia/microphthalmia-esophageal atresia syndrome |
| RS2108521702 | Health Risk | Pathogenic | Anophthalmia/microphthalmia-esophageal atresia syndrome, Anophthalmia/microphthalmia-esophageal atresia syndrome |
| RS2108521935 | Health Risk | Pathogenic | Anophthalmia/microphthalmia-esophageal atresia syndrome, Anophthalmia/microphthalmia-esophageal atresia syndrome |
| RS2108522189 | Health Risk | Pathogenic | Anophthalmia/microphthalmia-esophageal atresia syndrome, Anophthalmia/microphthalmia-esophageal atresia syndrome |
| RS2108522646 | Health Risk | Pathogenic | Anophthalmia/microphthalmia-esophageal atresia syndrome, Anophthalmia/microphthalmia-esophageal atresia syndrome |
| RS2108522652 | Health Risk | Pathogenic | Anophthalmia/microphthalmia-esophageal atresia syndrome, Anophthalmia/microphthalmia-esophageal atresia syndrome |
| RS2108522679 | Health Risk | Pathogenic | Anophthalmia, Anophthalmia |
| RS2108522776 | Health Risk | Pathogenic | Anophthalmia/microphthalmia-esophageal atresia syndrome, Anophthalmia/microphthalmia-esophageal atresia syndrome |
| RS2108523389 | Health Risk | Pathogenic | Anophthalmia/microphthalmia-esophageal atresia syndrome, Anophthalmia/microphthalmia-esophageal atresia syndrome |
| RS2108523802 | Health Risk | Pathogenic | — |
| RS2473716682 | Health Risk | Pathogenic | Anophthalmia/microphthalmia-esophageal atresia syndrome, Anophthalmia/microphthalmia-esophageal atresia syndrome |
| RS2473717120 | Health Risk | Pathogenic | Microphthalmia, Microphthalmia |
| RS2473717246 | Health Risk | Pathogenic | Anophthalmia/microphthalmia-esophageal atresia syndrome, Anophthalmia/microphthalmia-esophageal atresia syndrome |
| RS2473717674 | Health Risk | Pathogenic | Anophthalmia, Anophthalmia |
| RS2473718027 | Health Risk | Pathogenic | Anophthalmia/microphthalmia-esophageal atresia syndrome, Anophthalmia/microphthalmia-esophageal atresia syndrome |
| RS2473718342 | Health Risk | Pathogenic | Anophthalmia/microphthalmia-esophageal atresia syndrome, Anophthalmia/microphthalmia-esophageal atresia syndrome |
| RS2473718812 | Health Risk | Pathogenic | Anophthalmia/microphthalmia-esophageal atresia syndrome, Anophthalmia/microphthalmia-esophageal atresia syndrome |
| RS2473719100 | Health Risk | Pathogenic | Anophthalmia/microphthalmia-esophageal atresia syndrome, Anophthalmia/microphthalmia-esophageal atresia syndrome |
| RS387906688 | Health Risk | Pathogenic | Anophthalmia/microphthalmia-esophageal atresia syndrome, Anophthalmia/microphthalmia-esophageal atresia syndrome |
| RS398122803 | Health Risk | Pathogenic | Anophthalmia/microphthalmia-esophageal atresia syndrome, Anophthalmia/microphthalmia-esophageal atresia syndrome, Anophthalmia/microphthalmia-esophageal atresia syndrome |
| RS398122915 | Health Risk | Pathogenic | Anophthalmia/microphthalmia-esophageal atresia syndrome, Anophthalmia/microphthalmia-esophageal atresia syndrome |
| RS398122916 | Health Risk | Pathogenic | Anophthalmia/microphthalmia-esophageal atresia syndrome, Anophthalmia/microphthalmia-esophageal atresia syndrome |
| RS55683010 | Health Risk | Pathogenic | Anophthalmia/microphthalmia-esophageal atresia syndrome, Anophthalmia/microphthalmia-esophageal atresia syndrome |
| RS587776776 | Health Risk | Pathogenic | Anophthalmia/microphthalmia-esophageal atresia syndrome, Anophthalmia/microphthalmia-esophageal atresia syndrome |
| RS750091101 | Health Risk | Pathogenic | Anophthalmia/microphthalmia-esophageal atresia syndrome, Anophthalmia/microphthalmia-esophageal atresia syndrome |
| RS761248518 | Health Risk | Pathogenic | Anophthalmia/microphthalmia-esophageal atresia syndrome, Anophthalmia/microphthalmia-esophageal atresia syndrome |
| RS771521201 | Health Risk | Pathogenic | Anophthalmia/microphthalmia-esophageal atresia syndrome, Intellectual disability, Anophthalmia/microphthalmia-esophageal atresia syndrome |
| RS886041378 | Health Risk | Pathogenic | — |
| RS886043936 | Health Risk | Pathogenic | — |
| RS1208628241 | Health Risk | Pathogenic/Likely pathogenic | Anophthalmia/microphthalmia-esophageal atresia syndrome, Anophthalmia/microphthalmia-esophageal atresia syndrome |
| RS1249553271 | Health Risk | Pathogenic/Likely pathogenic | Developmental disorder, Developmental disorder |
| RS2108522980 | Health Risk | Pathogenic/Likely pathogenic | Anophthalmia/microphthalmia-esophageal atresia syndrome, Anophthalmia/microphthalmia-esophageal atresia syndrome |