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Aliases for HTRA2 Gene

Aliases for HTRA2 Gene

  • HtrA Serine Peptidase 2 2 3
  • PRSS25 3 4 6
  • OMI 3 4 6
  • High Temperature Requirement Protein A2 3 4
  • Omi Stress-Regulated Endoprotease 3 4
  • Serine Proteinase OMI 3 4
  • Protease, Serine, 25 2 3
  • Serine Protease 25 3 4
  • EC 3.4.21.108 4 64
  • PARK13 3 6
  • Serine Protease HTRA2, Mitochondrial 3
  • HtrA-Like Serine Protease 3
  • HtrA2 4

External Ids for HTRA2 Gene

Previous Symbols for HTRA2 Gene

  • PRSS25

Summaries for HTRA2 Gene

Entrez Gene Summary 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 two transcript variants encoding different isoforms. Additional transcript variants have been described, but their full-length sequences have not been determined. [provided by RefSeq, Jul 2008]

GeneCards Summary for HTRA2 Gene

HTRA2 (HtrA Serine Peptidase 2) is a Protein Coding gene. Diseases associated with HTRA2 include parkinson disease 13 and ophthalmomyiasis. Among its related pathways are Apoptotic Pathways in Synovial Fibroblasts and Apoptotic Pathways in Synovial Fibroblasts. GO annotations related to this gene include serine-type endopeptidase activity and peptidase activity. An important paralog of this gene is HTRA3.

UniProtKB/Swiss-Prot 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.

Gene Wiki entry for HTRA2 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for HTRA2 Gene

Genomics for HTRA2 Gene

Genomic Location for HTRA2 Gene

Start:
74,529,377 bp from pter
End:
74,533,556 bp from pter
Size:
4,180 bases
Orientation:
Plus strand

Genomic View for HTRA2 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for HTRA2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for HTRA2 Gene

Regulatory Elements for HTRA2 Gene

Proteins for HTRA2 Gene

  • Protein details for HTRA2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O43464-HTRA2_HUMAN
    Recommended name:
    Serine protease HTRA2, mitochondrial
    Protein Accession:
    O43464
    Secondary Accessions:
    • Q9HBZ4
    • Q9P0Y3
    • Q9P0Y4

    Protein attributes for HTRA2 Gene

    Size:
    458 amino acids
    Molecular mass:
    48841 Da
    Quaternary structure:
    • Homotrimer. Interacts with MXI2. Interacts with THAP5 under apoptotic conditions. The mature protein, but not the precursor, binds to BIRC2/c-IAP1, BIRC3/c-IAP2 and XIAP/BIRC4. Interacts with BIRC6/bruce.

    Three dimensional structures from OCA and Proteopedia for HTRA2 Gene

    Alternative splice isoforms for HTRA2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for HTRA2 Gene

Proteomics data for HTRA2 Gene at MOPED

Selected DME Specific Peptides for HTRA2 Gene

Post-translational modifications for HTRA2 Gene

Other Protein References for HTRA2 Gene

Domains for HTRA2 Gene

Gene Families for HTRA2 Gene

HGNC:
  • PRSS :Serine peptidases / Serine peptidases
  • PARK :Parkinson disease

UniProtKB/Swiss-Prot:

HTRA2_HUMAN
Domain:
  • The mature N-terminus is involved in the interaction with XIAP:
    • O43464
  • The PDZ domain mediates interaction with MXI2:
    • O43464
  • Contains 1 PDZ (DHR) domain.:
    • O43464
Family:
  • Belongs to the peptidase S1C family.:
    • O43464
genes like me logo Genes that share domains with HTRA2: view

Function for HTRA2 Gene

Molecular function for HTRA2 Gene

UniProtKB/Swiss-Prot CatalyticActivity: Cleavage of non-polar aliphatic amino acids at the P1 position, with a preference for Val, Ile and Met. At the P2 and P3 positions, Arg is selected most strongly with a secondary preference for other hydrophilic residues
UniProtKB/Swiss-Prot Function: 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.

Enzyme Numbers (IUBMB) for HTRA2 Gene

Gene Ontology (GO) - Molecular Function for HTRA2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003824 catalytic activity --
GO:0004252 serine-type endopeptidase activity TAS 10873535
GO:0005515 protein binding IPI 10971580
GO:0008233 peptidase activity IDA 11604410
GO:0008236 serine-type peptidase activity TAS 18309324
genes like me logo Genes that share ontologies with HTRA2: view
genes like me logo Genes that share phenotypes with HTRA2: view

Animal Models for HTRA2 Gene

MGI Knock Outs for HTRA2:

miRNA for HTRA2 Gene

miRTarBase miRNAs that target HTRA2

No data available for Transcription Factor Targeting and HOMER Transcription for HTRA2 Gene

Localization for HTRA2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for HTRA2 Gene

Mitochondrion intermembrane space. Mitochondrion membrane; Single-pass membrane protein. Note=Predominantly present in the intermembrane space. Released into the cytosol following apoptotic stimuli, such as UV treatment, and stimulation of mitochondria with caspase-8 truncated BID/tBID.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for HTRA2 Gene COMPARTMENTS Subcellular localization image for HTRA2 gene
Compartment Confidence
cytosol 5
endoplasmic reticulum 5
mitochondrion 5
nucleus 5
plasma membrane 3
cytoskeleton 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for HTRA2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000785 chromatin IDA 24798695
GO:0005634 nucleus IDA 10971580
GO:0005739 mitochondrion TAS 18309324
GO:0005758 mitochondrial intermembrane space IDA 15044455
GO:0005783 endoplasmic reticulum NAS 10995577
genes like me logo Genes that share ontologies with HTRA2: view

Pathways for HTRA2 Gene

genes like me logo Genes that share pathways with HTRA2: view

Pathways by source for HTRA2 Gene

2 Cell Signaling Technology pathways for HTRA2 Gene
2 BioSystems pathways for HTRA2 Gene
1 KEGG pathway for HTRA2 Gene

Gene Ontology (GO) - Biological Process for HTRA2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006508 proteolysis TAS 10873535
GO:0006672 ceramide metabolic process IEA --
GO:0007005 mitochondrion organization IEA --
GO:0007628 adult walking behavior IEA --
GO:0008344 adult locomotory behavior --
genes like me logo Genes that share ontologies with HTRA2: view

Compounds for HTRA2 Gene

(1) Novoseek inferred chemical compound relationships for HTRA2 Gene

Compound -log(P) Hits PubMed IDs
serine 61.5 13
genes like me logo Genes that share compounds with HTRA2: view

Transcripts for HTRA2 Gene

Unigene Clusters for HTRA2 Gene

HtrA serine peptidase 2:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for HTRA2 Gene

ExUns: 1a · 1b ^ 2a · 2b · 2c ^ 3 ^ 4 ^ 5a · 5b ^ 6 ^ 7a · 7b ^ 8 ^ 9
SP1: - -
SP2:
SP3:
SP4:
SP5: - - -
SP6:

Relevant External Links for HTRA2 Gene

GeneLoc Exon Structure for
HTRA2
ECgene alternative splicing isoforms for
HTRA2

Expression for HTRA2 Gene

mRNA expression in normal human tissues for HTRA2 Gene

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for HTRA2 Gene

SOURCE GeneReport for Unigene cluster for HTRA2 Gene Hs.744841

mRNA Expression by UniProt/SwissProt for HTRA2 Gene

O43464-HTRA2_HUMAN
Tissue specificity: Isoform 1 is ubiquitous. Isoform 2 is expressed predominantly in the kidney, colon and thyroid
genes like me logo Genes that share expressions with HTRA2: view

Orthologs for HTRA2 Gene

This gene was present in the common ancestor of animals.

Orthologs for HTRA2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia HTRA2 36
  • 99.17 (n)
  • 99.69 (a)
HTRA2 37
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia HTRA2 36
  • 89.96 (n)
  • 89.52 (a)
HTRA2 37
  • 90 (a)
OneToOne
dog
(Canis familiaris)
Mammalia HTRA2 36
  • 90.6 (n)
  • 89.93 (a)
HTRA2 37
  • 90 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Htra2 36
  • 86.1 (n)
  • 84.93 (a)
Htra2 16
Htra2 37
  • 85 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia HTRA2 37
  • 87 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Htra2 36
  • 86.17 (n)
  • 87.34 (a)
chicken
(Gallus gallus)
Aves HTRA2 36
  • 71.05 (n)
  • 75.96 (a)
HTRA2 37
  • 66 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia HTRA2 37
  • 70 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia Str.11096 36
zebrafish
(Danio rerio)
Actinopterygii HTRA2 (1 of 31) 37
  • 68 (a)
OneToMany
HTRA2 (10 of 31) 37
  • 67 (a)
OneToMany
HTRA2 (11 of 31) 37
  • 66 (a)
OneToMany
HTRA2 (12 of 31) 37
  • 69 (a)
OneToMany
HTRA2 (13 of 31) 37
  • 68 (a)
OneToMany
HTRA2 (14 of 31) 37
  • 66 (a)
OneToMany
HTRA2 (15 of 31) 37
  • 67 (a)
OneToMany
HTRA2 (16 of 31) 37
  • 69 (a)
OneToMany
HTRA2 (17 of 31) 37
  • 66 (a)
OneToMany
HTRA2 (18 of 31) 37
  • 68 (a)
OneToMany
HTRA2 (19 of 31) 37
  • 55 (a)
OneToMany
HTRA2 (2 of 31) 37
  • 66 (a)
OneToMany
HTRA2 (20 of 31) 37
  • 60 (a)
OneToMany
HTRA2 (21 of 31) 37
  • 52 (a)
OneToMany
HTRA2 (22 of 31) 37
  • 59 (a)
OneToMany
HTRA2 (23 of 31) 37
  • 65 (a)
OneToMany
HTRA2 (24 of 31) 37
  • 68 (a)
OneToMany
HTRA2 (25 of 31) 37
  • 60 (a)
OneToMany
HTRA2 (26 of 31) 37
  • 69 (a)
OneToMany
HTRA2 (27 of 31) 37
  • 66 (a)
OneToMany
HTRA2 (28 of 31) 37
  • 68 (a)
OneToMany
HTRA2 (29 of 31) 37
  • 65 (a)
OneToMany
HTRA2 (3 of 31) 37
  • 68 (a)
OneToMany
HTRA2 (30 of 31) 37
  • 61 (a)
OneToMany
HTRA2 (31 of 31) 37
  • 67 (a)
OneToMany
HTRA2 (4 of 31) 37
  • 38 (a)
OneToMany
HTRA2 (5 of 31) 37
  • 66 (a)
OneToMany
HTRA2 (6 of 31) 37
  • 68 (a)
OneToMany
HTRA2 (7 of 31) 37
  • 68 (a)
OneToMany
HTRA2 (8 of 31) 37
  • 63 (a)
OneToMany
HTRA2 (9 of 31) 37
  • 64 (a)
OneToMany
LOC100330919 36
  • 65.15 (n)
  • 69.89 (a)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP000240 36
  • 59.31 (n)
  • 58.44 (a)
fruit fly
(Drosophila melanogaster)
Insecta HtrA2 36
  • 55.74 (n)
  • 53.57 (a)
HtrA2 37
  • 41 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 37
  • 40 (a)
OneToMany
Species with no ortholog for HTRA2:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for HTRA2 Gene

ENSEMBL:
Gene Tree for HTRA2 (if available)
TreeFam:
Gene Tree for HTRA2 (if available)

Paralogs for HTRA2 Gene

Paralogs for HTRA2 Gene

Selected SIMAP similar genes for HTRA2 Gene using alignment to 2 proteins:

genes like me logo Genes that share paralogs with HTRA2: view

Variants for HTRA2 Gene

Sequence variations from dbSNP and Humsavar for HTRA2 Gene

SNP ID Clin Chr 02 pos Sequence Context AA Info Type MAF
VAR_027349 -
VAR_027350 Parkinson disease 13 (PARK13)
VAR_046134 -
VAR_046135 -

Structural Variations from Database of Genomic Variants (DGV) for HTRA2 Gene

Variant ID Type Subtype PubMed ID
dgv1199e1 CNV Complex 17122850
nsv458185 CNV Loss 19166990
nsv515851 CNV Loss 19592680
dgv4166n71 CNV Loss 21882294

Relevant External Links for HTRA2 Gene

HapMap Linkage Disequilibrium report
HTRA2
Human Gene Mutation Database (HGMD)
HTRA2
Locus Specific Mutation Databases (LSDB)
HTRA2

Disorders for HTRA2 Gene

(1) OMIM Diseases for HTRA2 Gene (606441)

UniProtKB/Swiss-Prot

HTRA2_HUMAN
  • Parkinson disease 13 (PARK13) [MIM:610297]: A complex neurodegenerative disorder characterized by bradykinesia, resting tremor, muscular rigidity and postural instability, as well as by a clinically significant response to treatment with levodopa. The pathology involves the loss of dopaminergic neurons in the substantia nigra and the presence of Lewy bodies (intraneuronal accumulations of aggregated proteins), in surviving neurons in various areas of the brain. {ECO:0000269 PubMed:15961413}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(3) University of Copenhagen DISEASES for HTRA2 Gene

(2) Novoseek inferred disease relationships for HTRA2 Gene

Disease -log(P) Hits PubMed IDs
prostate cancer 10.7 1
cancer 3.92 3

Relevant External Links for HTRA2

GeneTests
HTRA2
GeneReviews
HTRA2
Genetic Association Database (GAD)
HTRA2
Human Genome Epidemiology (HuGE) Navigator
HTRA2
genes like me logo Genes that share disorders with HTRA2: view

Publications for HTRA2 Gene

  1. Characterization of a novel human serine protease that has extensive homology to bacterial heat shock endoprotease HtrA and is regulated by kidney ischemia. (PMID: 10644717) Faccio L. … Zervos A.S. (J. Biol. Chem. 2000) 2 3 4 23
  2. Genetic variability in the mitochondrial serine protease HTRA2 contributes to risk for Parkinson disease. (PMID: 18401856) Bogaerts V. … Van Broeckhoven C. (Hum. Mutat. 2008) 3 4 23 49
  3. Tissue-specific splicing of Omi stress-regulated endoprotease leads to an inactive protease with a modified PDZ motif. (PMID: 10995577) Faccio L. … Zervos A.S. (Genomics 2000) 3 4 23
  4. A serine protease, HtrA2, is released from the mitochondria and interacts with XIAP, inducing cell death. (PMID: 11583623) Suzuki Y. … Takahashi R. (Mol. Cell 2001) 3 4 23
  5. Characterization of human HtrA2, a novel serine protease involved in the mammalian cellular stress response. (PMID: 10971580) Gray C.W. … Creasy C.L. (Eur. J. Biochem. 2000) 2 3 4

Products for HTRA2 Gene

  • Addgene plasmids for HTRA2

Sources for HTRA2 Gene

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