HTRA2 Chromosome 2
HtrA serine peptidase 2
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What This Gene Does
This gene encodes a serine protease. The protein has been localized in the endoplasmic reticulum and interacts with an alternatively spliced form of mitogen-activated protein kinase 14. The protein has also been localized to the mitochondria with release to the cytosol following apoptotic stimulus. The protein is thought to induce apoptosis by binding the apoptosis inhibitory protein baculoviral IAP repeat-containing 4. Nuclear localization of this protein has also been observed. Alternate splicing of this gene results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Mar 2016]
Gene Info
Gene Group
"Serine proteases|PDZ domain containing"
Locus Type
gene with protein product
Location
2p13.1
Ensembl
ENSG00000115317
Associated Conditions (5)
Parkinson disease 13
autosomal dominant
susceptibility to
3-methylglutaconic aciduria type 8
HTRA2-Related Disorders
Key Variants
RS186272815
Conflicting classifications of pathogenicity
Health Risk
RS2529909206
Conflicting classifications of pathogenicity
Health Risk
RS372441631
Conflicting classifications of pathogenicity
Health Risk
RS542851656
Conflicting classifications of pathogenicity
Parkinson disease 13, autosomal dominant, susceptibility to
Health Risk
RS758108369
Conflicting classifications of pathogenicity
Parkinson disease 13, autosomal dominant, susceptibility to
Health Risk
RS775948550
Conflicting classifications of pathogenicity
Parkinson disease 13, autosomal dominant, susceptibility to
Health Risk
RS777650346
Conflicting classifications of pathogenicity
Parkinson disease 13, autosomal dominant, susceptibility to
Health Risk
RS781540048
Conflicting classifications of pathogenicity
Parkinson disease 13, autosomal dominant, susceptibility to
Health Risk
RS1675617353
Likely pathogenic
3-methylglutaconic aciduria type 8, 3-methylglutaconic aciduria type 8
Health Risk
RS1057519080
Pathogenic
3-methylglutaconic aciduria type 8, 3-methylglutaconic aciduria type 8
Health Risk
RS1057519081
Pathogenic
3-methylglutaconic aciduria type 8, 3-methylglutaconic aciduria type 8
Health Risk
RS1057519082
Pathogenic
3-methylglutaconic aciduria type 8, 3-methylglutaconic aciduria type 8
Health Risk
All Variants (21)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS186272815 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS2529909206 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS372441631 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS542851656 | Health Risk | Conflicting classifications of pathogenicity | Parkinson disease 13, autosomal dominant, susceptibility to |
| RS758108369 | Health Risk | Conflicting classifications of pathogenicity | Parkinson disease 13, autosomal dominant, susceptibility to |
| RS775948550 | Health Risk | Conflicting classifications of pathogenicity | Parkinson disease 13, autosomal dominant, susceptibility to |
| RS777650346 | Health Risk | Conflicting classifications of pathogenicity | Parkinson disease 13, autosomal dominant, susceptibility to |
| RS781540048 | Health Risk | Conflicting classifications of pathogenicity | Parkinson disease 13, autosomal dominant, susceptibility to |
| RS1675617353 | Health Risk | Likely pathogenic | 3-methylglutaconic aciduria type 8, 3-methylglutaconic aciduria type 8 |
| RS1057519080 | Health Risk | Pathogenic | 3-methylglutaconic aciduria type 8, 3-methylglutaconic aciduria type 8 |
| RS1057519081 | Health Risk | Pathogenic | 3-methylglutaconic aciduria type 8, 3-methylglutaconic aciduria type 8 |
| RS1057519082 | Health Risk | Pathogenic | 3-methylglutaconic aciduria type 8, 3-methylglutaconic aciduria type 8 |
| RS1407675367 | Health Risk | Pathogenic | 3-methylglutaconic aciduria type 8, 3-methylglutaconic aciduria type 8 |
| RS1411383758 | Health Risk | Pathogenic | — |
| RS1675486182 | Health Risk | Pathogenic | HTRA2-Related Disorders, HTRA2-Related Disorders |
| RS2104374324 | Health Risk | Pathogenic | — |
| RS2529880282 | Health Risk | Pathogenic | — |
| RS767006508 | Health Risk | Pathogenic | 3-methylglutaconic aciduria type 8, 3-methylglutaconic aciduria type 8 |
| RS2104369249 | Health Risk | Pathogenic/Likely pathogenic | 3-methylglutaconic aciduria type 8, 3-methylglutaconic aciduria type 8 |
| RS779457274 | Health Risk | Pathogenic/Likely pathogenic | — |
| RS387906942 | Health Risk | risk factor | Parkinson disease 13, autosomal dominant, susceptibility to |