SOX3 Chromosome X
SRY-box transcription factor 3
Upload your DNA to see your personal genotypes for variants in SOX3.
What This Gene Does
This gene encodes a member of the SOX (SRY-related HMG-box) family of transcription factors involved in the regulation of embryonic development and in the determination of the cell fate. The encoded protein may act as a transcriptional regulator after forming a protein complex with other proteins. Mutations in this gene have been associated with X-linked cognitive disability with growth hormone deficiency. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
SRY-box transcription factors
Locus Type
gene with protein product
Location
Xq27.1
Ensembl
ENSG00000134595
Associated Conditions (6)
Intellectual disability
X-linked
with panhypopituitarism
Panhypopituitarism
SOX3-related disorder
X-linked intellectual disability with isolated growth hormone deficiency
Key Variants
RS112180170
Conflicting classifications of pathogenicity
Intellectual disability, X-linked, with panhypopituitarism
Health Risk
RS1927349741
Conflicting classifications of pathogenicity
Panhypopituitarism, X-linked, Panhypopituitarism
Health Risk
RS374950908
Conflicting classifications of pathogenicity
SOX3-related disorder, Panhypopituitarism, X-linked
Health Risk
RS398124211
Conflicting classifications of pathogenicity
Intellectual disability, X-linked, with panhypopituitarism
Health Risk
RS773402232
Conflicting classifications of pathogenicity
Intellectual disability, Intellectual disability
Health Risk
RS780905183
Conflicting classifications of pathogenicity
Health Risk
RS794726924
Conflicting classifications of pathogenicity
SOX3-related disorder, SOX3-related disorder
Health Risk
RS1556518231
Likely pathogenic
Intellectual disability, X-linked, with panhypopituitarism
Health Risk
RS2520866066
Pathogenic
X-linked intellectual disability with isolated growth hormone deficiency, X-linked intellectual disability with isolated growth hormone deficiency
Health Risk
RS776775669
Pathogenic
Panhypopituitarism, X-linked, Panhypopituitarism
Health Risk
All Variants (10)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS112180170 | Health Risk | Conflicting classifications of pathogenicity | Intellectual disability, X-linked, with panhypopituitarism |
| RS1927349741 | Health Risk | Conflicting classifications of pathogenicity | Panhypopituitarism, X-linked, Panhypopituitarism |
| RS374950908 | Health Risk | Conflicting classifications of pathogenicity | SOX3-related disorder, Panhypopituitarism, X-linked |
| RS398124211 | Health Risk | Conflicting classifications of pathogenicity | Intellectual disability, X-linked, with panhypopituitarism |
| RS773402232 | Health Risk | Conflicting classifications of pathogenicity | Intellectual disability, Intellectual disability |
| RS780905183 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS794726924 | Health Risk | Conflicting classifications of pathogenicity | SOX3-related disorder, SOX3-related disorder |
| RS1556518231 | Health Risk | Likely pathogenic | Intellectual disability, X-linked, with panhypopituitarism |
| RS2520866066 | Health Risk | Pathogenic | X-linked intellectual disability with isolated growth hormone deficiency, X-linked intellectual disability with isolated growth hormone deficiency |
| RS776775669 | Health Risk | Pathogenic | Panhypopituitarism, X-linked, Panhypopituitarism |