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 |
|---|---|---|---|
| RS1007978252 | Health Risk | Conflicting classifications of pathogenicity | Anophthalmia/microphthalmia-esophageal atresia syndrome, Inborn genetic diseases, Anophthalmia/microphthalmia-esophageal atresia syndrome |
| RS121918652 | Health Risk | 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 |
| RS1247705831 | Health Risk | Conflicting classifications of pathogenicity | Anophthalmia/microphthalmia-esophageal atresia syndrome, Inborn genetic diseases, Anophthalmia/microphthalmia-esophageal atresia syndrome |
| RS1338979266 | Health Risk | Conflicting classifications of pathogenicity | Anophthalmia/microphthalmia-esophageal atresia syndrome, Inborn genetic diseases, Anophthalmia/microphthalmia-esophageal atresia syndrome |
| RS199887134 | Health Risk | Conflicting classifications of pathogenicity | Anophthalmia/microphthalmia-esophageal atresia syndrome, Anophthalmia/microphthalmia-esophageal atresia syndrome |
| RS2473716820 | Health Risk | Conflicting classifications of pathogenicity | Anophthalmia/microphthalmia-esophageal atresia syndrome, Anophthalmia/microphthalmia-esophageal atresia syndrome |
| RS727504169 | Health Risk | Conflicting classifications of pathogenicity | Amenorrhea, Anophthalmia/microphthalmia-esophageal atresia syndrome, Amenorrhea |
| RS757913217 | Health Risk | Conflicting classifications of pathogenicity | Anophthalmia/microphthalmia-esophageal atresia syndrome, Anophthalmia/microphthalmia-esophageal atresia syndrome |
| RS763171566 | Health Risk | Conflicting classifications of pathogenicity | Anophthalmia/microphthalmia-esophageal atresia syndrome, Anophthalmia/microphthalmia-esophageal atresia syndrome |
| RS1553862987 | Health Risk | Likely pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS1714843059 | Health Risk | Likely pathogenic | Anophthalmia/microphthalmia-esophageal atresia syndrome, Anophthalmia/microphthalmia-esophageal atresia syndrome |
| RS1714847764 | Health Risk | Likely pathogenic | Anophthalmia/microphthalmia-esophageal atresia syndrome, Anophthalmia/microphthalmia-esophageal atresia syndrome |
| RS1714865486 | Health Risk | Likely pathogenic | Anophthalmia/microphthalmia-esophageal atresia syndrome, Anophthalmia/microphthalmia-esophageal atresia syndrome |
| RS2108521642 | Health Risk | Likely pathogenic | Chorioretinal coloboma, Chorioretinal coloboma |
| RS2108521859 | Health Risk | Likely pathogenic | — |
| RS2108522196 | Health Risk | Likely pathogenic | Anophthalmia/microphthalmia-esophageal atresia syndrome, Anophthalmia/microphthalmia-esophageal atresia syndrome |
| RS2473717602 | Health Risk | Likely pathogenic | Anophthalmia/microphthalmia-esophageal atresia syndrome, Anophthalmia/microphthalmia-esophageal atresia syndrome |
| RS2473717827 | Health Risk | Likely pathogenic | SOX2-related disorder, SOX2-related disorder |
| RS2473720054 | Health Risk | Likely pathogenic | Anophthalmia/microphthalmia-esophageal atresia syndrome, Anophthalmia/microphthalmia-esophageal atresia syndrome |
| RS398123693 | Health Risk | Likely pathogenic | Anophthalmia/microphthalmia-esophageal atresia syndrome, Septo-optic dysplasia sequence, SOX2-related disorder |
| RS765982831 | Health Risk | Likely pathogenic | — |
| RS104893799 | Health Risk | Pathogenic | Anophthalmia/microphthalmia-esophageal atresia syndrome, Anophthalmia/microphthalmia-esophageal atresia syndrome |
| RS104893800 | Health Risk | Pathogenic | Anophthalmia/microphthalmia-esophageal atresia syndrome, Anophthalmia/microphthalmia-esophageal atresia syndrome |
| RS104893801 | Health Risk | Pathogenic | Anophthalmia/microphthalmia-esophageal atresia syndrome, Anophthalmia/microphthalmia-esophageal atresia syndrome |
| RS104893802 | Health Risk | Pathogenic | Anophthalmia/microphthalmia-esophageal atresia syndrome, Anophthalmia/microphthalmia-esophageal atresia syndrome |
| RS104893803 | Health Risk | Pathogenic | Anophthalmia/microphthalmia-esophageal atresia syndrome, Anophthalmia/microphthalmia-esophageal atresia syndrome |
| RS104893804 | Health Risk | Pathogenic | Anophthalmia/microphthalmia-esophageal atresia syndrome, Anophthalmia/microphthalmia-esophageal atresia syndrome |
| RS104893805 | Health Risk | Pathogenic | Anophthalmia/microphthalmia-esophageal atresia syndrome, Anophthalmia/microphthalmia-esophageal atresia syndrome |
| RS104893806 | Health Risk | Pathogenic | Anophthalmia/microphthalmia-esophageal atresia syndrome, Anophthalmia/microphthalmia-esophageal atresia syndrome |
| RS1085307481 | Health Risk | Pathogenic | — |
| RS1260218988 | Health Risk | Pathogenic | Anophthalmia/microphthalmia-esophageal atresia syndrome, Anophthalmia/microphthalmia-esophageal atresia syndrome |
| RS1273721978 | Health Risk | Pathogenic | Anophthalmia/microphthalmia-esophageal atresia syndrome, Anophthalmia/microphthalmia-esophageal atresia syndrome |
| RS1553862927 | Health Risk | Pathogenic | Inborn genetic diseases, Anophthalmia/microphthalmia-esophageal atresia syndrome, Inborn genetic diseases |
| RS1553862958 | Health Risk | Pathogenic | Anophthalmia/microphthalmia-esophageal atresia syndrome, Anophthalmia/microphthalmia-esophageal atresia syndrome |
| RS1553862966 | Health Risk | Pathogenic | — |
| RS1553862971 | Health Risk | Pathogenic | Anophthalmia/microphthalmia-esophageal atresia syndrome, Anophthalmia/microphthalmia-esophageal atresia syndrome |
| RS1560264167 | Health Risk | Pathogenic | Anophthalmia/microphthalmia-esophageal atresia syndrome, Anophthalmia/microphthalmia-esophageal atresia syndrome, Anophthalmia/microphthalmia-esophageal atresia syndrome |
| RS1560264293 | Health Risk | Pathogenic | Anophthalmia/microphthalmia-esophageal atresia syndrome, Anophthalmia/microphthalmia-esophageal atresia syndrome |
| RS1560264395 | Health Risk | Pathogenic | Anophthalmia/microphthalmia-esophageal atresia syndrome, Anophthalmia/microphthalmia-esophageal atresia syndrome |
| RS1560264452 | Health Risk | Pathogenic | Anophthalmia/microphthalmia-esophageal atresia syndrome, Anophthalmia/microphthalmia-esophageal atresia syndrome |
| RS1560264973 | Health Risk | Pathogenic | Anophthalmia/microphthalmia-esophageal atresia syndrome, Anophthalmia/microphthalmia-esophageal atresia syndrome |
| RS1714831656 | Health Risk | Pathogenic | Anophthalmia/microphthalmia-esophageal atresia syndrome, Anophthalmia/microphthalmia-esophageal atresia syndrome |
| RS1714833474 | Health Risk | Pathogenic | Anophthalmia/microphthalmia-esophageal atresia syndrome, Anophthalmia/microphthalmia-esophageal atresia syndrome |
| RS1714837282 | Health Risk | Pathogenic | Anophthalmia/microphthalmia-esophageal atresia syndrome, Anophthalmia/microphthalmia-esophageal atresia syndrome |
| RS1714839412 | Health Risk | Pathogenic | Anophthalmia/microphthalmia-esophageal atresia syndrome, Anophthalmia/microphthalmia-esophageal atresia syndrome |
| RS1714842576 | Health Risk | Pathogenic | Anophthalmia/microphthalmia-esophageal atresia syndrome, Anophthalmia/microphthalmia-esophageal atresia syndrome |
| RS1714851160 | Health Risk | Pathogenic | Anophthalmia/microphthalmia-esophageal atresia syndrome, Anophthalmia/microphthalmia-esophageal atresia syndrome |
| RS1714858949 | Health Risk | Pathogenic | Anophthalmia/microphthalmia-esophageal atresia syndrome, Anophthalmia/microphthalmia-esophageal atresia syndrome |
| RS1714861042 | Health Risk | Pathogenic | Anophthalmia/microphthalmia-esophageal atresia syndrome, Anophthalmia/microphthalmia-esophageal atresia syndrome |
| RS1714861435 | Health Risk | Pathogenic | Anophthalmia/microphthalmia-esophageal atresia syndrome, Anophthalmia/microphthalmia-esophageal atresia syndrome |