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    HTRA2 HtrA serine peptidase 2 [ Homo sapiens (human) ]

    Gene ID: 27429, updated on 17-Jun-2019

    Summary

    Official Symbol
    HTRA2provided by HGNC
    Official Full Name
    HtrA serine peptidase 2provided by HGNC
    Primary source
    HGNC:HGNC:14348
    See related
    Ensembl:ENSG00000115317 MIM:606441
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    OMI; MGCA8; PARK13; PRSS25
    Summary
    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]
    Expression
    Ubiquitous expression in spleen (RPKM 12.3), bone marrow (RPKM 11.8) and 25 other tissues See more
    Orthologs

    Genomic context

    See HTRA2 in Genome Data Viewer
    Location:
    2p13.1
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    109.20190607 current GRCh38.p13 (GCF_000001405.39) 2 NC_000002.12 (74529405..74533556)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (74756532..74760683)

    Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene T cell leukemia homeobox 2 Neighboring gene DEAQ-box RNA dependent ATPase 1 Neighboring gene AUP1 lipid droplet regulating VLDL assembly factor Neighboring gene lysyl oxidase like 3 Neighboring gene docking protein 1 Neighboring gene meiosis 1 associated protein Neighboring gene torsin family 1 member B pseudogene

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Pathways from BioSystems

    • Apoptosis, organism-specific biosystem (from KEGG)
      Apoptosis, organism-specific biosystemApoptosis is a genetically programmed process for the elimination of damaged or redundant cells by activation of caspases (aspartate-specific cysteine proteases). The onset of apoptosis is controlled...
    • Apoptosis, conserved biosystem (from KEGG)
      Apoptosis, conserved biosystemApoptosis is a genetically programmed process for the elimination of damaged or redundant cells by activation of caspases (aspartate-specific cysteine proteases). The onset of apoptosis is controlled...
    • Apoptosis - multiple species, organism-specific biosystem (from KEGG)
      Apoptosis - multiple species, organism-specific biosystemApoptosis is an evolutionarily conserved process used by multicellular organisms to developmentally regulate cell number or to eliminate cells that are potentially detrimental to the organism. The ma...
    • Apoptosis - multiple species, conserved biosystem (from KEGG)
      Apoptosis - multiple species, conserved biosystemApoptosis is an evolutionarily conserved process used by multicellular organisms to developmentally regulate cell number or to eliminate cells that are potentially detrimental to the organism. The ma...
    • Apoptosis Modulation and Signaling, organism-specific biosystem (from WikiPathways)
      Apoptosis Modulation and Signaling, organism-specific biosystemApoptosis, or cell death program, can be activated by various mechanisms within the extrinsic and the intrinsic pathway. While activation of cell death receptors leads to the engagement of the extrin...
    • Nanomaterial induced apoptosis, organism-specific biosystem (from WikiPathways)
      Nanomaterial induced apoptosis, organism-specific biosystemApotosis caused by nanomaterials, such as single-walled carbon nanohorns, titanium oxide, and polystyrene nanoparticles, may be induced through lysosomal impairment. For example, PAMAMs have been fou...
    • Parkinson's disease, organism-specific biosystem (from KEGG)
      Parkinson's disease, organism-specific biosystemParkinson's disease (PD) is a progressive neurodegenerative movement disorder that results primarily from the death of dopaminergic (DA) neurons in the substantia nigra pars compacta (SNc). Mutations...
    • Parkinsons Disease Pathway, organism-specific biosystem (from WikiPathways)
      Parkinsons Disease Pathway, organism-specific biosystemMost people with Parkinson's disease have idiopathic Parkinson's disease (having no specific known cause). A small proportion of cases, however, can be attributed to known genetic factors. Mutations ...

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    identical protein binding IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    peptidase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    peptidase activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    serine-type endopeptidase activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    serine-type endopeptidase activity TAS
    Traceable Author Statement
    more info
    PubMed 
    serine-type peptidase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    serine-type peptidase activity TAS
    Traceable Author Statement
    more info
    PubMed 
    unfolded protein binding NAS
    Non-traceable Author Statement
    more info
    PubMed 
    Process Evidence Code Pubs
    adult walking behavior IEA
    Inferred from Electronic Annotation
    more info
     
    aging IEA
    Inferred from Electronic Annotation
    more info
     
    cellular protein catabolic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cellular response to growth factor stimulus IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    cellular response to heat IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cellular response to interferon-beta IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cellular response to oxidative stress IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    cellular response to oxidative stress NAS
    Non-traceable Author Statement
    more info
    PubMed 
    cellular response to retinoic acid IDA
    Inferred from Direct Assay
    more info
    PubMed 
    ceramide metabolic process IEA
    Inferred from Electronic Annotation
    more info
     
    execution phase of apoptosis TAS
    Traceable Author Statement
    more info
    PubMed 
    forebrain development IEA
    Inferred from Electronic Annotation
    more info
     
    intrinsic apoptotic signaling pathway in response to DNA damage IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    mitochondrion organization IEA
    Inferred from Electronic Annotation
    more info
     
    negative regulation of cell cycle TAS
    Traceable Author Statement
    more info
    PubMed 
    negative regulation of mitophagy in response to mitochondrial depolarization IEA
    Inferred from Electronic Annotation
    more info
     
    negative regulation of neuron death TAS
    Traceable Author Statement
    more info
    PubMed 
    negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway NAS
    Non-traceable Author Statement
    more info
    PubMed 
    neuron development IEA
    Inferred from Electronic Annotation
    more info
     
    pentacyclic triterpenoid metabolic process IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of apoptotic process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    positive regulation of apoptotic process TAS
    Traceable Author Statement
    more info
    PubMed 
    positive regulation of cell death IDA
    Inferred from Direct Assay
    more info
    PubMed 
    positive regulation of cysteine-type endopeptidase activity involved in apoptotic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    positive regulation of cysteine-type endopeptidase activity involved in apoptotic process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    positive regulation of cysteine-type endopeptidase activity involved in apoptotic signaling pathway IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    positive regulation of extrinsic apoptotic signaling pathway in absence of ligand IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    positive regulation of mitochondrion organization IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    positive regulation of protein targeting to mitochondrion HMP PubMed 
    protein autoprocessing TAS
    Traceable Author Statement
    more info
    PubMed 
    protein homotrimerization IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    proteolysis IDA
    Inferred from Direct Assay
    more info
    PubMed 
    proteolysis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    proteolysis TAS
    Traceable Author Statement
    more info
    PubMed 
    regulation of autophagy of mitochondrion TAS
    Traceable Author Statement
    more info
    PubMed 
    regulation of multicellular organism growth IEA
    Inferred from Electronic Annotation
    more info
     
    response to herbicide IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    CD40 receptor complex ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    chromatin IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cytoplasmic side of plasma membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    cytoskeleton IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cytosol IDA
    Inferred from Direct Assay
    more info
    PubMed 
    endoplasmic reticulum NAS
    Non-traceable Author Statement
    more info
    PubMed 
    endoplasmic reticulum membrane TAS
    Traceable Author Statement
    more info
    PubMed 
    membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    mitochondrial intermembrane space IDA
    Inferred from Direct Assay
    more info
    PubMed 
    mitochondrial membrane IEA
    Inferred from Electronic Annotation
    more info
     
    mitochondrion IDA
    Inferred from Direct Assay
    more info
    PubMed 
    mitochondrion IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    mitochondrion TAS
    Traceable Author Statement
    more info
    PubMed 
    nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    serine-type endopeptidase complex IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 

    General protein information

    Preferred Names
    serine protease HTRA2, mitochondrial
    Names
    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
    NP_001308656.1
    NP_001308657.1
    NP_037379.1
    NP_659540.1

    NCBI Reference Sequences (RefSeq)

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_012163.1 RefSeqGene

      Range
      5001..9152
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001321727.1NP_001308656.1  serine protease HTRA2, mitochondrial isoform 3 preproprotein

      Status: REVIEWED

      Source sequence(s)
      AC005041
      UniProtKB/Swiss-Prot
      O43464
      Related
      ENSP00000399166.1, ENST00000437202.1
      Conserved Domains (2) summary
      cd00989
      Location:382432
      PDZ_metalloprotease; PDZ domain of bacterial and plant zinc metalloprotases, presumably membrane-associated or integral membrane proteases, which may be involved in signalling and regulatory mechanisms. May be responsible for substrate recognition and/or binding, as most PDZ ...
      pfam13365
      Location:182330
      Trypsin_2; Trypsin-like peptidase domain
    2. NM_001321728.1NP_001308657.1  serine protease HTRA2, mitochondrial isoform 4 preproprotein

      Status: REVIEWED

      Source sequence(s)
      AC005041
      Conserved Domains (2) summary
      cd00989
      Location:372422
      PDZ_metalloprotease; PDZ domain of bacterial and plant zinc metalloprotases, presumably membrane-associated or integral membrane proteases, which may be involved in signalling and regulatory mechanisms. May be responsible for substrate recognition and/or binding, as most PDZ ...
      pfam13365
      Location:182320
      Trypsin_2; Trypsin-like peptidase domain
    3. NM_013247.4NP_037379.1  serine protease HTRA2, mitochondrial isoform 1 preproprotein

      See identical proteins and their annotated locations for NP_037379.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longer isoform (1).
      Source sequence(s)
      AF141305, BF939362
      Consensus CDS
      CCDS1951.1
      UniProtKB/Swiss-Prot
      O43464
      Related
      ENSP00000258080.3, ENST00000258080.7
      Conserved Domains (1) summary
      cl28339
      Location:150453
      DegQ; Periplasmic serine protease, S1-C subfamily, contain C-terminal PDZ domain [Posttranslational modification, protein turnover, chaperones]
    4. NM_145074.2NP_659540.1  serine protease HTRA2, mitochondrial isoform 2 preproprotein

      See identical proteins and their annotated locations for NP_659540.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks two in-frame exons in the coding region, compared to variant 1. The encoded isoform (2) is shorter than isoform 1 and has a modified PDZ domain. Isoform 2 has no detectable protease activity.
      Source sequence(s)
      AF141305, AF184911, BF939362
      Consensus CDS
      CCDS1952.1
      UniProtKB/Swiss-Prot
      O43464
      Related
      ENSP00000312893.3, ENST00000352222.7
      Conserved Domains (2) summary
      cd00989
      Location:307357
      PDZ_metalloprotease; PDZ domain of bacterial and plant zinc metalloprotases, presumably membrane-associated or integral membrane proteases, which may be involved in signalling and regulatory mechanisms. May be responsible for substrate recognition and/or binding, as most PDZ ...
      pfam13365
      Location:182255
      Trypsin_2; Trypsin-like peptidase domain

    RNA

    1. NR_135769.1 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AC005041
    2. NR_135770.1 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AC005041
    3. NR_135771.1 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AC005041
    4. NR_135772.1 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AC005041

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000002.12 Reference GRCh38.p13 Primary Assembly

      Range
      74529405..74533556
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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