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

Gene ID: 27429, updated on 8-Jul-2018
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; Vega:OTTHUMG00000129957
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
See HTRA2 in Genome Data Viewer
Location:
2p13.1
Exon count:
8
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 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

  • 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 Jun 15 11:32:44 2016

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

  • 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 ...
Products Interactant Other Gene Complex Source Pubs Description

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 
Preferred Names
serine protease HTRA2, mitochondrial
Names
HtrA-like serine protease
Omi stress-regulated endoprotease
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

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, OTTHUMP00000202723, ENST00000437202.1, OTTHUMT00000328591
    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, OTTHUMP00000160415, ENST00000258080.7, OTTHUMT00000252219
    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, OTTHUMP00000160416, ENST00000352222.7, OTTHUMT00000252220
    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 details...Open this link in a new tab

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000002.12 Reference GRCh38.p12 Primary Assembly

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