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 p... See more...

Aliases for HTRA2 Gene

Aliases for HTRA2 Gene

  • HtrA Serine Peptidase 2 2 3 5
  • OMI 2 3 4
  • High Temperature Requirement Protein A2 3 4
  • Serine Protease HTRA2, Mitochondrial 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 50
  • PARK13 2 3
  • PRSS25 3 4
  • Epididymis Secretory Sperm Binding Protein 3
  • HtrA-Like Serine Protease 3
  • MGCA8 3
  • HTRA2 5
  • HtrA2 4

External Ids for HTRA2 Gene

Previous HGNC Symbols for HTRA2 Gene

  • PRSS25

Previous GeneCards Identifiers for HTRA2 Gene

  • GC02P074669
  • GC02P074610
  • GC02P074757
  • GC02P074492

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 multiple transcript variants encoding different isoforms. [provided by RefSeq, Mar 2016]

GeneCards Summary for HTRA2 Gene

HTRA2 (HtrA Serine Peptidase 2) is a Protein Coding gene. Diseases associated with HTRA2 include 3-Methylglutaconic Aciduria, Type Viii and Parkinson Disease 13, Autosomal Dominant. Among its related pathways are Apoptosis Modulation and Signaling and Pathways of neurodegeneration - multiple diseases. Gene Ontology (GO) annotations related to this gene include serine-type endopeptidase activity and unfolded protein binding. An important paralog of this gene is HTRA1.

UniProtKB/Swiss-Prot Summary 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 CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for HTRA2 Gene

Genomics for HTRA2 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for HTRA2 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around HTRA2 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for HTRA2

Top Transcription factor binding sites by QIAGEN in the HTRA2 gene promoter:
  • AP-1
  • Gfi-1
  • LCR-F1
  • MIF-1
  • Nkx2-5
  • PPAR-gamma1
  • PPAR-gamma2
  • STAT1
  • STAT1alpha
  • STAT1beta

Genomic Locations for HTRA2 Gene

Latest Assembly
chr2:74,529,405-74,533,556
(GRCh38/hg38)
Size:
4,152 bases
Orientation:
Plus strand

Previous Assembly
chr2:74,756,532-74,760,683
(GRCh37/hg19 by Entrez Gene)
Size:
4,152 bases
Orientation:
Plus strand

chr2:74,756,504-74,760,472
(GRCh37/hg19 by Ensembl)
Size:
3,969 bases
Orientation:
Plus strand

Genomic View for HTRA2 Gene

Genes around HTRA2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
HTRA2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for HTRA2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence 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

Selected DME Specific Peptides for HTRA2 Gene

O43464:
  • GSPFALQNT
  • GNSGGPL
  • NFIADVVEK

Post-translational modifications for HTRA2 Gene

Other Protein References for HTRA2 Gene

Antibodies for research

Domains & Families for HTRA2 Gene

Gene Families for HTRA2 Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Enzymes
  • Plasma proteins
  • Potential drug targets
  • Predicted membrane proteins

Protein Domains for HTRA2 Gene

InterPro:
Blocks:
  • Serine protease, trypsin family
  • PDZ/DHR/GLGF domain
  • HtrA/DegQ protease family signature

Suggested Antigen Peptide Sequences for HTRA2 Gene

GenScript: Design optimal peptide antigens:
  • Mitochondrial serine protease (B2BKJ3_HUMAN)
  • Serine proteinase OMI (HTRA2_HUMAN)

Graphical View of Domain Structure for InterPro Entry

O43464

UniProtKB/Swiss-Prot:

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

Function for HTRA2 Gene

Molecular function for HTRA2 Gene

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.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=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.; EC=3.4.21.108;.

Enzyme Numbers (IUBMB) for HTRA2 Gene

Phenotypes From GWAS Catalog for HTRA2 Gene

Gene Ontology (GO) - Molecular Function for HTRA2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004252 serine-type endopeptidase activity IEA,TAS 10873535
GO:0005515 protein binding IEA,IPI 10971580
GO:0008233 peptidase activity IMP 24709290
GO:0008236 serine-type peptidase activity TAS 18309324
GO:0016787 hydrolase activity IEA --
genes like me logo Genes that share ontologies with HTRA2: view
genes like me logo Genes that share phenotypes with HTRA2: view

Human Phenotype Ontology for HTRA2 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for HTRA2 Gene

MGI Knock Outs for HTRA2:

miRNA for HTRA2 Gene

miRTarBase miRNAs that target HTRA2

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for HTRA2

Clone products for research

  • Addgene plasmids for HTRA2

No data available for Transcription Factor Targets 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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for HTRA2 gene
Compartment Confidence
mitochondrion 5
nucleus 5
endoplasmic reticulum 5
cytosol 5
plasma membrane 4
cytoskeleton 4
extracellular 2
peroxisome 2
lysosome 2
endosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)

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 & Interactions for HTRA2 Gene

PathCards logo

SuperPathways for HTRA2 Gene

SuperPathway Contained pathways
1 Apoptosis Modulation and Signaling
.31
2 TNFR1 Pathway
.52
.42
.42
3 Nanomaterial induced apoptosis
4 Apoptotic Pathways in Synovial Fibroblasts
.85
.85
5 Apoptosis and Autophagy
genes like me logo Genes that share pathways with HTRA2: view

Pathways by source for HTRA2 Gene

2 GeneGo (Thomson Reuters) pathways for HTRA2 Gene
  • Apoptosis and survival FAS signaling cascades
  • Apoptosis and survival TNFR1 signaling pathway
1 R&D Systems pathway for HTRA2 Gene
4 Qiagen pathways for HTRA2 Gene
  • Apoptosis through Death Receptors
  • Apoptotic Pathways Triggered By HIV1
  • Cellular Apoptosis Pathway
  • Mitochondrial Apoptosis
1 Cell Signaling Technology pathway for HTRA2 Gene
1 GeneTex pathway for HTRA2 Gene

SIGNOR curated interactions for HTRA2 Gene

Inactivates:
Is activated by:
Is inactivated by:

Gene Ontology (GO) - Biological Process for HTRA2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006508 proteolysis IEA,TAS 10873535
GO:0006672 ceramide metabolic process IEA --
GO:0006915 apoptotic process IEA --
GO:0007005 mitochondrion organization IEA --
GO:0007568 aging IEA --
genes like me logo Genes that share ontologies with HTRA2: view

Drugs & Compounds for HTRA2 Gene

(1) Drugs for HTRA2 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
genes like me logo Genes that share compounds with HTRA2: view

Transcripts for HTRA2 Gene

mRNA/cDNA for HTRA2 Gene

4 REFSEQ mRNAs :
11 NCBI additional mRNA sequence :
10 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for HTRA2

Clone products for research

  • Addgene plasmids for HTRA2

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

Expression for HTRA2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for HTRA2 Gene

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for HTRA2 Gene



Protein tissue co-expression partners for HTRA2 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for HTRA2

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.

Evidence on tissue expression from TISSUES for HTRA2 Gene

  • Nervous system(4.8)
  • Kidney(4.5)
  • Liver(4.4)
  • Muscle(2.5)
  • Heart(2.4)
  • Skin(2.3)
  • Intestine(2.3)
  • Blood(2.3)
  • Lymph node(2.1)
  • Bone marrow(2.1)
  • Spleen(2.1)
  • Adrenal gland(2)
  • Lung(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for HTRA2 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • integumentary
  • nervous
  • skeletal muscle
  • urinary
Regions:
Head and neck:
  • brain
  • cerebellum
  • eye
  • eyelid
  • face
  • head
Pelvis:
  • urethra
  • urinary bladder
General:
  • peripheral nerve
  • peripheral nervous system
  • skin
  • spinal cord
genes like me logo Genes that share expression patterns with HTRA2: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and Protein differential expression in normal tissues for HTRA2 Gene

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 29 30
  • 99.17 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia HTRA2 29 30
  • 90.6 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia HTRA2 29 30
  • 89.96 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia HTRA2 30
  • 87 (a)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Htra2 29
  • 86.17 (n)
Mouse
(Mus musculus)
Mammalia Htra2 29 16 30
  • 86.1 (n)
OneToOne
Chicken
(Gallus gallus)
Aves HTRA2 29 30
  • 71.05 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia HTRA2 30
  • 70 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia Str.11096 29
Zebrafish
(Danio rerio)
Actinopterygii HTRA2 (26 of 31) 30
  • 69 (a)
OneToMany
HTRA2 (16 of 31) 30
  • 69 (a)
OneToMany
HTRA2 (12 of 31) 30
  • 69 (a)
OneToMany
HTRA2 (6 of 31) 30
  • 68 (a)
OneToMany
HTRA2 (1 of 31) 30
  • 68 (a)
OneToMany
HTRA2 (3 of 31) 30
  • 68 (a)
OneToMany
HTRA2 (28 of 31) 30
  • 68 (a)
OneToMany
HTRA2 (24 of 31) 30
  • 68 (a)
OneToMany
HTRA2 (18 of 31) 30
  • 68 (a)
OneToMany
HTRA2 (7 of 31) 30
  • 68 (a)
OneToMany
HTRA2 (13 of 31) 30
  • 68 (a)
OneToMany
HTRA2 (10 of 31) 30
  • 67 (a)
OneToMany
HTRA2 (15 of 31) 30
  • 67 (a)
OneToMany
HTRA2 (31 of 31) 30
  • 67 (a)
OneToMany
HTRA2 (11 of 31) 30
  • 66 (a)
OneToMany
HTRA2 (2 of 31) 30
  • 66 (a)
OneToMany
HTRA2 (5 of 31) 30
  • 66 (a)
OneToMany
HTRA2 (27 of 31) 30
  • 66 (a)
OneToMany
HTRA2 (17 of 31) 30
  • 66 (a)
OneToMany
HTRA2 (14 of 31) 30
  • 66 (a)
OneToMany
LOC100330919 29
  • 65.15 (n)
HTRA2 (23 of 31) 30
  • 65 (a)
OneToMany
HTRA2 (29 of 31) 30
  • 65 (a)
OneToMany
HTRA2 (9 of 31) 30
  • 64 (a)
OneToMany
HTRA2 (8 of 31) 30
  • 63 (a)
OneToMany
HTRA2 (30 of 31) 30
  • 61 (a)
OneToMany
HTRA2 (20 of 31) 30
  • 60 (a)
OneToMany
HTRA2 (25 of 31) 30
  • 60 (a)
OneToMany
HTRA2 (22 of 31) 30
  • 59 (a)
OneToMany
HTRA2 (19 of 31) 30
  • 55 (a)
OneToMany
HTRA2 (21 of 31) 30
  • 52 (a)
OneToMany
HTRA2 (4 of 31) 30
  • 38 (a)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP000240 29
  • 59.31 (n)
Fruit Fly
(Drosophila melanogaster)
Insecta HtrA2 29 30
  • 55.74 (n)
OneToMany
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 30
  • 40 (a)
OneToMany
Species where no ortholog for HTRA2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (Ciona intestinalis)
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for HTRA2: view image
Alliance of Genome Resources:
Additional Orthologs for HTRA2

Paralogs for HTRA2 Gene

Paralogs for HTRA2 Gene

(3) SIMAP similar genes for HTRA2 Gene using alignment to 2 proteins:

  • HTRA2_HUMAN
  • B2BKJ3_HUMAN
genes like me logo Genes that share paralogs with HTRA2: view

Variants for HTRA2 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for HTRA2 Gene

SNP ID Clinical significance and condition Chr 02 pos Variation AA Info Type
1027061 Uncertain Significance: not provided 74,530,396(+) C/A
NM_013247.5(HTRA2):c.390C>A (p.Ala130=)
NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS
1027794 Uncertain Significance: 3-methylglutaconic aciduria, type VIII 74,530,152(+) G/C
NM_013247.5(HTRA2):c.146G>C (p.Arg49Pro)
MISSENSE_VARIANT,NON_CODING_TRANSCRIPT
1036225 Uncertain Significance: not provided 74,531,062(+) C/T
NM_013247.5(HTRA2):c.863C>T (p.Pro288Leu)
MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT,INTRON
895797 Uncertain Significance: Parkinson disease 13 74,531,369(+) C/T
NM_013247.5(HTRA2):c.937C>T (p.Leu313=)
NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS
895798 Likely Benign: Parkinson disease 13 74,531,851(+) C/G
NM_013247.5(HTRA2):c.1046-5C>G
INTRON

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for HTRA2 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

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

Variant ID Type Subtype PubMed ID
esv2759061 CNV loss 17122850
nsv458185 CNV loss 19166990
nsv515851 CNV loss 19592680
nsv582214 CNV loss 21841781

Variation tolerance for HTRA2 Gene

Residual Variation Intolerance Score: 31.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.02; 37.21% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for HTRA2 Gene

Human Gene Mutation Database (HGMD)
HTRA2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
HTRA2
Leiden Open Variation Database (LOVD)
HTRA2

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for HTRA2 Gene

Disorders for HTRA2 Gene

MalaCards: The human disease database

(13) MalaCards diseases for HTRA2 Gene - From: OMI, CVR, GTR, ORP, SWI, COP, and GCD

Disorder Aliases PubMed IDs
3-methylglutaconic aciduria, type viii
  • mgca8
parkinson disease 13, autosomal dominant
  • parkinson disease 13, autosomal dominant, susceptibility to
parkinson disease 2, autosomal recessive juvenile
  • park2
3-methylglutaconic aciduria
  • 3-methyl glutaconic aciduria
essential tremor
  • benign essential tremor
- elite association - COSMIC cancer census association via MalaCards
Search HTRA2 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

HTRA2_HUMAN
  • 3-methylglutaconic aciduria 8 (MGCA8) [MIM:617248]: An autosomal recessive inborn error of metabolism resulting in early death. Clinical features include extreme hypertonia observed at birth, alternating with hypotonia, subsequent appearance of extrapyramidal symptoms, lack of psychomotor development, microcephaly, and intractable seizures. Patients show lactic acidemia, 3-methylglutaconic aciduria, intermittent neutropenia, and progressive brain atrophy. {ECO:0000269 PubMed:27208207, ECO:0000269 PubMed:27696117}. Note=The disease is caused by variants affecting the gene represented in this entry.
  • 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, ECO:0000269 PubMed:18401856}. Note=Disease susceptibility is associated with variants affecting the gene represented in this entry.

Additional Disease Information for HTRA2

Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with HTRA2: view

No data available for Genatlas for HTRA2 Gene

Publications for HTRA2 Gene

  1. Genetic variability in the mitochondrial serine protease HTRA2 contributes to risk for Parkinson disease. (PMID: 18401856) Bogaerts V … Van Broeckhoven C (Human mutation 2008) 3 4 22 40
  2. 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 AS (The Journal of biological chemistry 2000) 2 3 4 22
  3. Pathogenic variants in HTRA2 cause an early-onset mitochondrial syndrome associated with 3-methylglutaconic aciduria. (PMID: 27696117) Oláhová M … Taylor RW (Journal of inherited metabolic disease 2017) 3 4 72
  4. Deficiency of HTRA2/Omi is associated with infantile neurodegeneration and 3-methylglutaconic aciduria. (PMID: 27208207) Mandel H … Elpeleg O (Journal of medical genetics 2016) 3 4 72
  5. A serine protease, HtrA2, is released from the mitochondria and interacts with XIAP, inducing cell death. (PMID: 11583623) Suzuki Y … Takahashi R (Molecular cell 2001) 3 4 22

Products for HTRA2 Gene

  • Addgene plasmids for HTRA2

Sources for HTRA2 Gene