• Gene id: 27429

Gene Summary

• Gene Symbol: HTRA2   Gene   UCSC   Ensembl
• Aliases: MGCA8, OMI, PARK13, PRSS25
• Gene name: HtrA serine peptidase 2
• Alternate names: serine protease HTRA2, mitochondrial, HtrA-like serine protease, Omi stress-regulated endoprotease, epididymis secretory sperm binding protein, high temperature requirement protein A2, protease, serine, 25, serine protease 25, serine proteinase OMI,
• Gene location: 2p13.1 (74529404: 74533555)     Exons: 8     NC_000002.12
• Gene summary(Entrez): 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
• OMIM: 606441

Protein Summary

• Protein general information: O43464  
  • Name: Serine protease HTRA2, mitochondrial (EC 3.4.21.108) (High temperature requirement protein A2) (HtrA2) (Omi stress regulated endoprotease) (Serine protease 25) (Serine proteinase OMI)
  • Length: 458  
  • Mass: 48841
  • Tissue specificity: Isoform 1 is ubiquitous. Isoform 2 is expressed predominantly in the kidney, colon and thyroid.
• Sequence:

  MAAPRAGRGAGWSLRAWRALGGIRWGRRPRLTPDLRALLTSGTSDPRARVTYGTPSLWARLSVGVTEPRACLTSG
  TPGPRAQLTAVTPDTRTREASENSGTRSRAWLAVALGAGGAVLLLLWGGGRGPPAVLAAVPSPPPASPRSQYNFI
  ADVVEKTAPAVVYIEILDRHPFLGREVPISNGSGFVVAADGLIVTNAHVVADRRRVRVRLLSGDTYEAVVTAVDP
  VADIATLRIQTKEPLPTLPLGRSADVRQGEFVVAMGSPFALQNTITSGIVSSAQRPARDLGLPQTNVEYIQTDAA
  IDFGNSGGPLVNLDGEVIGVNTMKVTAGISFAIPSDRLREFLHRGEKKNSSSGISGSQRRYIGVMMLTLSPSILA
  ELQLREPSFPDVQHGVLIHKVILGSPAHRAGLRPGDVILAIGEQMVQNAEDVYEAVRTQSQLAVQIRRGRETLTL
  YVTPEVTE

• Structural information:
  • Protein Domains: (364..44-)
    (/note="PDZ-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00143"-)
  • Interpro: IPR001478  IPR041489  IPR036034  IPR009003  IPR001940  
  • Prosite: PS50106
  • PDB: 1LCY 2PZD 5FHT 5M3N 5M3O 5TNY 5TNZ 5TO0 5TO1 5WYN
  • PDBsum: 1LCY 2PZD 5FHT 5M3N 5M3O 5TNY 5TNZ 5TO0 5TO1 5WYN
  • STRING: ENSP00000258080
• Other Databases: GeneCards:  HTRA2  Malacards:  HTRA2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0006508	proteolysis	IDA	biological process
GO:0008233	peptidase activity	IDA	molecular function
GO:1901215	negative regulation of neuron death	TAS	biological process
GO:0006508	proteolysis	IMP	biological process
GO:0043280	positive regulation of cysteine-type endopeptidase activity involved in apoptotic process	IDA	biological process
GO:0035458	cellular response to interferon-beta	IDA	biological process
GO:0044257	cellular protein catabolic process	IDA	biological process
GO:0005829	cytosol	IDA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0008233	peptidase activity	IMP	molecular function
GO:1903146	regulation of autophagy of mitochondrion	TAS	biological process
GO:0000785	chromatin	IDA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:1903955	positive regulation of protein targeting to mitochondrion	HMP	biological process
GO:0005739	mitochondrion	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0005856	cytoskeleton	IDA	cellular component
GO:0016020	membrane	IDA	cellular component
GO:0010822	positive regulation of mitochondrion organization	IMP	biological process
GO:2001269	positive regulation of cysteine-type endopeptidase activity involved in apoptotic signaling pathway	IMP	biological process
GO:0016540	protein autoprocessing	TAS	biological process
GO:0034599	cellular response to oxidative stress	IMP	biological process
GO:0034599	cellular response to oxidative stress	NAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0008630	intrinsic apoptotic signaling pathway in response to DNA damage	IMP	biological process
GO:0071300	cellular response to retinoic acid	IDA	biological process
GO:0043065	positive regulation of apoptotic process	TAS	biological process
GO:1902176	negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway	NAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0004252	serine-type endopeptidase activity	IEA	molecular function
GO:0006508	proteolysis	IEA	biological process
GO:0008233	peptidase activity	IEA	molecular function
GO:0016787	hydrolase activity	IEA	molecular function
GO:0006508	proteolysis	IEA	biological process
GO:0006915	apoptotic process	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0005739	mitochondrion	IEA	cellular component
GO:0008236	serine-type peptidase activity	IEA	molecular function
GO:0016021	integral component of membrane	IEA	cellular component
GO:0004252	serine-type endopeptidase activity	TAS	molecular function
GO:0005758	mitochondrial intermembrane space	IDA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005829	cytosol	IEA	cellular component
GO:0007568	aging	IEA	biological process
GO:0009635	response to herbicide	IEA	biological process
GO:0019742	pentacyclic triterpenoid metabolic process	IEA	biological process
GO:0060548	negative regulation of cell death	IEA	biological process
GO:0006508	proteolysis	IEA	biological process
GO:0007005	mitochondrion organization	IEA	biological process
GO:0008233	peptidase activity	IEA	molecular function
GO:0008344	adult locomotory behavior	IEA	biological process
GO:0009898	cytoplasmic side of plasma membrane	IEA	cellular component
GO:0034599	cellular response to oxidative stress	IEA	biological process
GO:0035631	CD40 receptor complex	IEA	cellular component
GO:0040014	regulation of multicellular organism growth	IEA	biological process
GO:0097193	intrinsic apoptotic signaling pathway	IEA	biological process
GO:1904924	negative regulation of mitophagy in response to mitochondrial depolarization	IEA	biological process
GO:0005739	mitochondrion	IEA	cellular component
GO:0006672	ceramide metabolic process	IEA	biological process
GO:0008236	serine-type peptidase activity	IEA	molecular function
GO:0043065	positive regulation of apoptotic process	IEA	biological process
GO:0005739	mitochondrion	IEA	cellular component
GO:0007628	adult walking behavior	IEA	biological process
GO:0030900	forebrain development	IEA	biological process
GO:0043065	positive regulation of apoptotic process	IEA	biological process
GO:0048666	neuron development	IEA	biological process
GO:0009898	cytoplasmic side of plasma membrane	ISS	cellular component
GO:0035631	CD40 receptor complex	ISS	cellular component
GO:0031966	mitochondrial membrane	IEA	cellular component
GO:0005758	mitochondrial intermembrane space	IEA	cellular component
GO:0005739	mitochondrion	IDA	cellular component
GO:0006508	proteolysis	IMP	biological process
GO:0043065	positive regulation of apoptotic process	IMP	biological process
GO:0043280	positive regulation of cysteine-type endopeptidase activity involved in apoptotic process	IMP	biological process
GO:1905370	serine-type endopeptidase complex	IMP	cellular component
GO:0004252	serine-type endopeptidase activity	IMP	molecular function
GO:0042802	identical protein binding	IPI	molecular function
GO:0043280	positive regulation of cysteine-type endopeptidase activity involved in apoptotic process	IDA	biological process
GO:0008233	peptidase activity	IDA	molecular function
GO:0008233	peptidase activity	IDA	molecular function
GO:0005829	cytosol	IDA	cellular component
GO:0012501	programmed cell death	IDA	biological process
GO:0008236	serine-type peptidase activity	IDA	molecular function
GO:0005739	mitochondrion	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0043280	positive regulation of cysteine-type endopeptidase activity involved in apoptotic process	IDA	biological process
GO:0034605	cellular response to heat	IDA	biological process
GO:0008233	peptidase activity	IDA	molecular function
GO:0005829	cytosol	IDA	cellular component
GO:0097194	execution phase of apoptosis	TAS	biological process
GO:0008236	serine-type peptidase activity	TAS	molecular function
GO:0005739	mitochondrion	IMP	cellular component
GO:0005739	mitochondrion	TAS	cellular component
GO:2001241	positive regulation of extrinsic apoptotic signaling pathway in absence of ligand	IMP	biological process
GO:0071363	cellular response to growth factor stimulus	IMP	biological process
GO:0006508	proteolysis	IMP	biological process
GO:0006508	proteolysis	TAS	biological process
GO:0005783	endoplasmic reticulum	NAS	cellular component
GO:0004252	serine-type endopeptidase activity	TAS	molecular function
GO:0045786	negative regulation of cell cycle	TAS	biological process
GO:0043065	positive regulation of apoptotic process	IMP	biological process
GO:0043065	positive regulation of apoptotic process	TAS	biological process
GO:0051082	unfolded protein binding	NAS	molecular function
GO:0005789	endoplasmic reticulum membrane	TAS	cellular component
GO:0004252	serine-type endopeptidase activity	IMP	molecular function

KEGG pathways

Pathway id	Pathway name
hsa05012	Parkinson disease
hsa04210	Apoptosis
hsa04215	Apoptosis - multiple species

Diseases

Associated diseases	References
Parkinson disease	KEGG:H00057
3-Methylglutaconic aciduria	KEGG:H00754
Parkinson disease	KEGG:H00057
3-Methylglutaconic aciduria	KEGG:H00754
Prostate cancer	PMID:17207090
Stomach cancer	PMID:12887511
Alzheimer's disease	PMID:21163861
Endometrial cancer	PMID:19424634
Parkinson's disease	PMID:15961413
Motor neuron disease	PMID:22976834
Ovarian cancer	PMID:18241672
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881