Aliases for HTRA2 Gene
External Ids for HTRA2 Gene
Previous HGNC Symbols for HTRA2 Gene
Previous GeneCards Identifiers for HTRA2 Gene
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]
GeneCards Summary for HTRA2 Gene
HTRA2 (HtrA Serine Peptidase 2) is a Protein Coding gene. Diseases associated with HTRA2 include 3-Methylglutaconic Aciduria, Type Viii and Parkinson Disease 13, Autosomal Dominant. Among its related pathways are Apoptosis Modulation and Signaling and Pathways of neurodegeneration - multiple diseases. Gene Ontology (GO) annotations related to this gene include serine-type endopeptidase activity and unfolded protein binding. An important paralog of this gene is HTRA1.
UniProtKB/Swiss-Prot Summary for HTRA2 Gene
Serine protease that shows proteolytic activity against a non-specific substrate beta-casein. Promotes or induces cell death either by direct binding to and inhibition of BIRC proteins (also called inhibitor of apoptosis proteins, IAPs), leading to an increase in caspase activity, or by a BIRC inhibition-independent, caspase-independent and serine protease activity-dependent mechanism. Cleaves THAP5 and promotes its degradation during apoptosis. Isoform 2 seems to be proteolytically inactive.