Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

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
Disease Acronyms (UniProt) Disease acronyms from UniProt database	MGCA8, PARK13
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

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
MIRT1057357	hsa-miR-1193	CLIP-seq
MIRT1057358	hsa-miR-2392	CLIP-seq
MIRT1057359	hsa-miR-3925-3p	CLIP-seq
MIRT1057360	hsa-miR-4266	CLIP-seq
MIRT1057361	hsa-miR-4426	CLIP-seq
MIRT1057362	hsa-miR-4647	CLIP-seq
MIRT1057363	hsa-miR-4660	CLIP-seq
MIRT1057364	hsa-miR-4662b	CLIP-seq
MIRT1057365	hsa-miR-4695-5p	CLIP-seq
MIRT1057366	hsa-miR-4712-5p	CLIP-seq
MIRT1057367	hsa-miR-4779	CLIP-seq
MIRT1057368	hsa-miR-633	CLIP-seq
MIRT1057369	hsa-miR-646	CLIP-seq
MIRT1057370	hsa-miR-770-5p	CLIP-seq
MIRT1057371	hsa-miR-885-3p	CLIP-seq
MIRT1057355	hsa-miR-4679	CLIP-seq

Transcription factors

Show/Hide all(1)

Transcription factor	Regulation	Reference
ESR1	Activation	21486948

Show/Hide all(60)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000785	Component	Chromatin	IDA	24798695
GO:0004252	Function	Serine-type endopeptidase activity	IMP	10971580, 11967569
GO:0004252	Function	Serine-type endopeptidase activity	TAS	10873535
GO:0005515	Function	Protein binding	IPI	10971580, 11583623, 11602612, 11604410, 11801603, 15200957, 17297443, 19502560, 20125124, 24698088, 25118933, 28642151, 31470122, 32814053
GO:0005634	Component	Nucleus	IDA	10971580, 24798695
GO:0005739	Component	Mitochondrion	IDA	11583623, 11602612
GO:0005739	Component	Mitochondrion	IMP	11604410
GO:0005739	Component	Mitochondrion	TAS	18309324
GO:0005758	Component	Mitochondrial intermembrane space	IDA	15044455
GO:0005783	Component	Endoplasmic reticulum	NAS	10995577
GO:0005789	Component	Endoplasmic reticulum membrane	TAS	10644717
GO:0005829	Component	Cytosol	IDA	11583623, 11602612, 11604410, 24798695
GO:0005856	Component	Cytoskeleton	IDA	24798695
GO:0006508	Process	Proteolysis	IDA	25118933
GO:0006508	Process	Proteolysis	IMP	10971580, 11967569, 24709290
GO:0006508	Process	Proteolysis	TAS	10873535
GO:0006672	Process	Ceramide metabolic process	IEA
GO:0007005	Process	Mitochondrion organization	IEA
GO:0007568	Process	Aging	IEA
GO:0007628	Process	Adult walking behavior	IEA
GO:0008233	Function	Peptidase activity	IDA	11604410, 17266347, 20125124, 25118933
GO:0008233	Function	Peptidase activity	IMP	24709290
GO:0008236	Function	Serine-type peptidase activity	IDA	11583623
GO:0008236	Function	Serine-type peptidase activity	TAS	18309324
GO:0008630	Process	Intrinsic apoptotic signaling pathway in response to DNA damage	IMP	11602612
GO:0009635	Process	Response to herbicide	IEA
GO:0009898	Component	Cytoplasmic side of plasma membrane	ISS
GO:0010822	Process	Positive regulation of mitochondrion organization	IMP	25118933
GO:0012501	Process	Programmed cell death	IDA	11583623
GO:0016020	Component	Membrane	IDA	24798695
GO:0016540	Process	Protein autoprocessing	TAS	11602612
GO:0019742	Process	Pentacyclic triterpenoid metabolic process	IEA
GO:0030900	Process	Forebrain development	IEA
GO:0031966	Component	Mitochondrial membrane	IEA
GO:0034599	Process	Cellular response to oxidative stress	IMP	24709290
GO:0034599	Process	Cellular response to oxidative stress	NAS	24522549
GO:0034605	Process	Cellular response to heat	IDA	10971580
GO:0035458	Process	Cellular response to interferon-beta	IDA	17297443
GO:0035631	Component	CD40 receptor complex	ISS
GO:0040014	Process	Regulation of multicellular organism growth	IEA
GO:0042802	Function	Identical protein binding	IPI	11967569
GO:0043065	Process	Positive regulation of apoptotic process	IMP	11967569, 20125124
GO:0043065	Process	Positive regulation of apoptotic process	TAS	18221368, 18309324
GO:0043280	Process	Positive regulation of cysteine-type endopeptidase activity involved in apoptotic process	IDA	11583623, 11604410, 17297443
GO:0043280	Process	Positive regulation of cysteine-type endopeptidase activity involved in apoptotic process	IMP	11967569
GO:0044257	Process	Cellular protein catabolic process	IDA	17297443
GO:0045786	Process	Negative regulation of cell cycle	TAS	18309324
GO:0048666	Process	Neuron development	IEA
GO:0051082	Function	Unfolded protein binding	NAS	10644717
GO:0071300	Process	Cellular response to retinoic acid	IDA	17297443
GO:0071363	Process	Cellular response to growth factor stimulus	IMP	20125124
GO:0097194	Process	Execution phase of apoptosis	TAS	18309324
GO:1901215	Process	Negative regulation of neuron death	TAS	18221368
GO:1902176	Process	Negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway	NAS	18221368
GO:1903146	Process	Regulation of autophagy of mitochondrion	TAS	24522549
GO:1903955	Process	Positive regulation of protein targeting to mitochondrion	HMP	24270810
GO:1904924	Process	Negative regulation of mitophagy in response to mitochondrial depolarization	IEA
GO:1905370	Component	Serine-type endopeptidase complex	IMP	11967569
GO:2001241	Process	Positive regulation of extrinsic apoptotic signaling pathway in absence of ligand	IMP	20125124
GO:2001269	Process	Positive regulation of cysteine-type endopeptidase activity involved in apoptotic signaling pathway	IMP	11602612

MIM	HGNC	e!Ensembl
606441	14348	ENSG00000115317

Protein

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

	KEGG
	Apoptosis Apoptosis - multiple species Parkinson disease Pathways of neurodegeneration - multiple diseases

Show/Hide Causal Diseases (4)

Disease term	Disease name	dbSNP ID	References
Causal
Cataract	Cataract	rs118203965, rs118203966, rs104893685, rs121908938, rs104894175, rs121909048, rs28937573, rs121909049, rs121909050, rs74315488, rs80358200, rs80358203, rs121434643, rs56141211, rs132630322 View all (150 more)
Dysautonomia	Dysautonomia	rs111033171, rs137853022, rs28939712, rs754348901, rs749052963, rs1057517169, rs1057516865, rs763445509, rs767527819, rs781333644, rs1239081703, rs1554696574, rs539544212, rs1201626345, rs774890086 View all (27 more)
Neutropenia	Neutropenia	rs879253882	27696117
Parkinson disease	Parkinsonian Disorders, Autosomal Dominant Juvenile Parkinson Disease, PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE, Young-onset Parkinson disease	rs33939927, rs35801418, rs34805604, rs35870237, rs34995376, rs74315355, rs28940284, rs74315356, rs74315357, rs28940285, rs730880302, rs750664040, rs74315359, rs74315360, rs45539432 View all (84 more)	26558463

Show/Hide Unknown Diseases (2)

Disease term	Disease name	Source
Unknown
Mental depression	Depressive disorder	ClinVar
3-Methylglutaconic aciduria	3-methylglutaconic aciduria type 8	GenCC

Show/Hide Text Mining Associations (39)

Disease Name	Relationship Type	References
Associations from Text Mining
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
Inflammation	Associate	37287073
Leukemia Lymphocytic Chronic B Cell	Associate	21732781
Lymphoma Large B Cell Diffuse	Associate	21732781
Malformations of Cortical Development Group I	Associate	20651226
Melanoma	Associate	19383853
Mesothelioma	Associate	26254420
Mesothelioma Malignant	Associate	26254420
Mitochondrial Diseases	Inhibit	16968707
Mitochondrial Diseases	Associate	21701785, 25422467, 27696117
Mitochondrial Diseases	Stimulate	29241219
Muscle Hypotonia	Associate	27696117
Necrosis	Associate	14645012
Neoplasm Metastasis	Inhibit	32486357
Neoplasms	Associate	17922292, 22851136, 25628093, 29620624, 34708890, 35122388
Neoplasms	Inhibit	32486357
Nerve Degeneration	Associate	16968707, 21701785, 25422467
Neurodegenerative Diseases	Associate	21163861, 22851136
Neutropenia	Associate	27696117
Ovarian Neoplasms	Associate	25628093
Parkinson Disease	Associate	18364387, 19763263, 20036034, 21163861, 21701785, 25422467, 28429747, 34148545
Parkinson Disease Secondary	Associate	30788857
Prostatic Neoplasms	Associate	20651226
Rectal Neoplasms	Associate	29241219
Sarcoma	Associate	26254420
Seizures	Associate	27696117
Signs and Symptoms Respiratory	Associate	27696117
Stomach Neoplasms	Associate	34708890
Synovitis	Stimulate	37287073
Uterine Cervical Neoplasms	Associate	31356194

HTRA2 (HtrA serine peptidase 2)