REVSEX
Chr 17ADreversal of sex (RevSex) determining region
This locus represents the RevSex (Reversal of Sex) sex determining region located approximately 571 kb upstream of the SOX9 (SRY-box transcription factor 9) gene on chromosome 17. Copy number variants (CNVs) that include this region are associated with ovo-testicular disorders of sex development (DSD), where duplications cause 46,XX DSD, while deletions cause 46,XY DSD. This RevSex region represents the minimal critical region found among CNV alterations in 46,XX DSD and 46,XY DSD individuals. It contains multiple sex reversal enhancers, including the most highly conserved subregion, SR4, which was shown to function as a genital tubercle enhancer. It also includes the eSR-B enhancer shown to be active in COS-7 monkey kidney cells, HEK293T human embryonic kidney cells, and TM3 Leydig and TM4 Sertoli testicular cells. The eSR-B enhancer contains a SOX9 motif and can be transactivated by the SOX9 transcription factor alone or by SOX9 and SF1 together, while it is repressed by FOXL2. Furthermore, the eSR-B enhancer displayed synergistic activity with the upstream eSR-A and downstream eALDI enhancers in the presence of SOX9 and SF1, suggesting that these enhancers may function cooperatively to regulate transcription of the SOX9 gene. [provided by RefSeq, Aug 2023]
Primary Disease Associations & Inheritance
Some data sources returned errors (2)
ensembl: Error: Ensembl fetch failed: 400 for https://rest.ensembl.org/lookup/symbol/homo_sapiens/REVSEX?content-type=application/json&expand=1
gnomad: Error: Gene not found
Population Genetics & Constraint
Constraint data not available from gnomAD.
ClinVar Variant Classifications
6 submitted variants in ClinVar
Classification Summary
Curated Variants Distribution
Classified variants from ClinVar · 5 ACMG categories· variant type breakdown unavailable
| Classification | LoF | Missense + Inframe | Non-coding | Synonymous | Total |
|---|---|---|---|---|---|
Pathogenic | — | — | — | — | 6 |
Likely Pathogenic | — | — | — | — | 0 |
VUS | — | — | — | — | 0 |
Likely Benign | — | — | — | — | 0 |
Benign | — | — | — | — | 0 |
| Total | — | 6 | |||
Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
REVSEX · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
No active trials found for this gene.
Search ClinicalTrials.gov →External Resources
Links to major genomics databases and tools