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

    Gene ID: 27429, updated on 11-Apr-2024

    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; AllianceGenome:HGNC:14348
    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
    NEW
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    Try the new Transcript table

    Genomic context

    Location:
    2p13.1
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (74529405..74533556)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (74537971..74542122)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (74756532..74760683)

    Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11666 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11667 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:74742813-74743314 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:74743315-74743814 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16070 Neighboring gene T cell leukemia homeobox 2 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:74756279-74757161 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16072 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16073 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16074 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16075 Neighboring gene DEAQ-box RNA dependent ATPase 1 Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:74763605-74764106 Neighboring gene AUP1 lipid droplet regulating VLDL assembly factor Neighboring gene lysyl oxidase like 3 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16076 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11669 Neighboring gene Sharpr-MPRA regulatory regions 4995 and 13004 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11670 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:74781947-74782464 Neighboring gene docking protein 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16078 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16079 Neighboring gene meiosis 1 associated protein Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16080 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16081 Neighboring gene TOR1B pseudogene 1

    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 Functions

    What's a GeneRIF?

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by GOA

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

    NEW Try the new Transcript table

    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
      5529..8915
      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
      Consensus CDS
      CCDS92785.1
      UniProtKB/TrEMBL
      A0A0C4DG44
      Related
      ENSP00000399166.2, ENST00000437202.2
      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
      Consensus CDS
      CCDS92786.1
      UniProtKB/TrEMBL
      A0A0C4DG44, A0A8Q3SIX7
      Related
      ENSP00000512836.1, ENST00000696727.1
      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_013247.5NP_037379.1  serine protease HTRA2, mitochondrial isoform 1 preproprotein

      See identical proteins and their annotated locations for NP_037379.1

      Status: REVIEWED

      Source sequence(s)
      AF141305, BF939362
      Consensus CDS
      CCDS1951.1
      UniProtKB/Swiss-Prot
      O43464, Q9HBZ4, Q9P0Y3, Q9P0Y4
      UniProtKB/TrEMBL
      A0A384MDW9, A8K7G2
      Related
      ENSP00000258080.3, ENST00000258080.8
      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/TrEMBL
      A0A0C4DG44
      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: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000002.12 Reference GRCh38.p14 Primary Assembly

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

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060926.1 Alternate T2T-CHM13v2.0

      Range
      74537971..74542122
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)