HTRA2 (HtrA serine peptidase 2)

Gene
Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
27429
Gene name Gene Name - the full gene name approved by the HGNC.
HtrA serine peptidase 2
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
HTRA2
Synonyms (NCBI Gene) Gene synonyms aliases
MGCA8, OMI, PARK13, PRSS25
Chromosome Chromosome number
2
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
2p13.1
Summary Summary of gene provided in NCBI Entrez 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
miRNA miRNA information provided by mirtarbase database.
Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(21)
miRTarBase ID miRNA Experiments Reference
MIRT037592 hsa-miR-744-5p CLASH 23622248
MIRT1057353 hsa-miR-4652-3p CLIP-seq
MIRT1057354 hsa-miR-4677-3p CLIP-seq
MIRT1057355 hsa-miR-4679 CLIP-seq
MIRT1057356 hsa-miR-548t CLIP-seq
Transcription factors
Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(1)
Transcription factor Regulation Reference
ESR1 Activation 21486948
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(89)
GO ID Ontology Definition Evidence Reference
GO:0000785 Component Chromatin IDA 24798695
GO:0004252 Function Serine-type endopeptidase activity IBA
GO:0004252 Function Serine-type endopeptidase activity IDA 11602612, 17297443, 25118933
GO:0004252 Function Serine-type endopeptidase activity IEA
GO:0004252 Function Serine-type endopeptidase activity IMP 10971580, 11967569
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
606441 14348 ENSG00000115317
Protein
Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID O43464
Protein name Serine protease HTRA2, mitochondrial (EC 3.4.21.108) (High temperature requirement protein A2) (HtrA2) (Omi stress-regulated endoprotease) (Serine protease 25) (Serine proteinase OMI)
Protein function [Isoform 1]: Serine protease that shows proteolytic activity against a non-specific substrate beta-casein (PubMed:10873535). Promotes apoptosis by either relieving the inhibition of BIRC proteins on caspases, leading to an increase in caspase ac
PDB 1LCY , 2PZD , 5FHT , 5M3N , 5M3O , 5TNY , 5TNZ , 5TO0 , 5TO1 , 5WYN , 7VGE , 8AUK , 8E2K
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF13365 Trypsin_2 182 → 320 Domain
PF17820 PDZ_6 392 → 443 PDZ domain Domain
Tissue specificity TISSUE SPECIFICITY: [Isoform 1]: Ubiquitously expressed. {ECO:0000269|PubMed:10644717}.
Sequence 
MAAPRAGRGAGWSLRAWRALGGIRWGRRPRLTPDLRALLTSGTSDPRARVTYGTPSLWAR
LSVGVTEPRACLTSGTPGPRAQLTAVTPDTRTREASENSGTRSRAWLAVALGAGGAVLLL
LWGGGRGPPAVLAAVPSPPPASPRSQYNFIADVVEKTAPAVVYIEILDRHPFLGREVPIS
NGSGFVVAADGLIVTNAHVVADRRRVRVRLLSGDTYEAVVTAVDPVADIATLRIQTKEPL
PTLPLGRSADVRQGEFVVAMGSPFALQNTITSGIVSSAQRPARDLGLPQTNVEYIQTDAA
IDFGNSGGPLVNLDGEVIGVNTMKVTAGISFAIPSDRLREFLHRGEKKNSSSGISGSQRR
YIGVMMLTLSPSILAELQLREPSFPDVQHGVLIHKVILGSPAHRAGLRPGDVILAIGEQM
VQNAEDVYEAVRTQSQLAVQIRRGRETLTLYVTPEVTE
Sequence length 458
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
  KEGG  
  Apoptosis
Apoptosis - multiple species
Parkinson disease
Pathways of neurodegeneration - multiple diseases 		 
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (1)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
3-Methylglutaconic aciduria 3-methylglutaconic aciduria type 8 rs1057519081, rs1057519082, rs767006508, rs1057519080 N/A
Show/Hide Unknown Diseases (1)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Parkinson disease Parkinson disease 13, autosomal dominant, susceptibility to N/A N/A ClinVar
Show/Hide Text Mining Associations (39)
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
3 Methylglutaconic Aciduria Associate 27696117
Alzheimer Disease Associate 16968707, 21163861, 30361890
Arthritis Rheumatoid Stimulate 37287073
Carcinogenesis Associate 31356194, 32486357
Carcinoma Hepatocellular Stimulate 29620624
Carcinoma Hepatocellular Associate 39528670
Carcinoma Renal Cell Associate 17922292
Colorectal Neoplasms Associate 32486357
Endometrial Neoplasms Associate 25884434
Essential Tremor Associate 25422467, 27881096, 32196977