HSERVPRODH
Chr 22human-specific endogenous retroviral insert PRODH enhancer
Also known as: hsERV_PRODH
This region includes an endogenous retrovirus long-terminal repeat (LTR)-derived sequence that binds SRY (sex determining region Y)-box 2 (SOX2) and functions as an enhancer of the proline dehydrogenase (oxidase) 1 (PRODH) gene in Tera-1 (testicular embryonal germ cell tumor) cells. The LTR sequence acts synergistically with a CG-rich region downstream of the transcription start site to promote expression of the PRODH gene. Cytosine methylation of the LTR element but not the CG-region can prevent enhancer activity. The orthologous sequence in chimpanzee does not function as an enhancer, suggesting that regulation by this region is human-specific. A subregion of the LTR element was also validated as a functional enhancer by Sharpr-MPRA (Systematic high-resolution activation and repression profiling with reporter tiling using massively parallel reporter assays) in HepG2 liver carcinoma cells (group: HepG2 Activating non-DNase unmatched - State 3:PromF, promoter flanking), but the same subregion displayed repressive activity by Sharpr-MPRA in K562 erythroleukemia cells (group: K562 Repressive non-DNase unmatched - State 22:ReprW, weaker Polycomb repression). A subregion was also shown to be an enhancer by the ChIP-STARR-seq massively parallel reporter assay in naive human embryonic stem cells, where it associates with the OCT4 and NANOG transcription factors and is marked by the H3K27ac histone modification. [provided by RefSeq, Dec 2022]
Some data sources returned errors (2)
ensembl: Error: Ensembl fetch failed: 400 for https://rest.ensembl.org/lookup/symbol/homo_sapiens/HSERVPRODH?content-type=application/json&expand=1
gnomad: Error: Gene not found
Population Genetics & Constraint
Constraint data not available from gnomAD.
ClinVar Variant Classifications
202 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 | — | — | — | — | 173 |
Likely Pathogenic | — | — | — | — | 2 |
VUS | — | — | — | — | 14 |
Likely Benign | — | — | — | — | 9 |
Benign | — | — | — | — | 2 |
| Total | — | 200 | |||
Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
HSERVPRODH · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
OMIM — Genotype-Phenotype
No OMIM entries found.
External Resources
Links to major genomics databases and tools
Variant Interpretation
Population Databases
Gene Resources
Expert Curation
No open access results found
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