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  2. HTRA2 - HtrA serine peptidase 2 Gene

HTRA2 - HtrA serine peptidase 2 Gene

Homo sapiens

Also known as OMI; MGCA8; PARK13; PRSS25

Gene ID: 27429 | Gene type: protein coding

About HTRA2

Cytogenetic location: 2p13.1 Genomic coordinates (GRCh38): 2:74,529,405-74,533,556 (from NCBI)

This gene has 17 transcripts (splice variants), 195 orthologues, 3 paralogues and is associated with 5 phenotypes. Ubiquitous expression in spleen (RPKM 12.3), bone marrow (RPKM 11.8) and 25 other tissues.

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]

HTRA2 Products(4)

mRNA Protein Name
NM_001321727.1 NP_001308656.1 serine protease HTRA2, mitochondrial isoform 3 preproprotein
NM_001321728.1 NP_001308657.1 serine protease HTRA2, mitochondrial isoform 4 preproprotein
NM_013247.5 NP_037379.1 serine protease HTRA2, mitochondrial isoform 1 preproprotein
NM_145074.2 NP_659540.1 serine protease HTRA2, mitochondrial isoform 2 preproprotein

HTRA2 Protein Structure

Trypsin_2

Trypsin_2: Trypsin-like peptidase domain (182 - 320)

PDZ_2

PDZ_2: PDZ domain (361 - 453)

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  • 458 a.a.
Protein Preferred Names Protein Names

serine protease HTRA2, mitochondrial

HtrA-like serine protease

Recombinant HTRA2 Proteins

Cat. No. Product Name Accession Purity
HY-P70204 HTRA2/OMI Protein, Human (HEK293, His) O43464 (A134-E458) ≥95%
HY-P74876 HTRA2/OMI Protein, Human (His) O43464 (A134-E458) ≥95%

Related Diseases

Diseases Alias
3-Methylglutaconic Aciduria, Type Viii

3-Methylglutaconic Aciduria Type 8

MGCA8

3-Methylglutaconic Aciduria Type Viii, Mgca8

Mga8

3-Methylglutaconic Aciduria 8

3-Methylglutaconic Aciduria, Type Vii

Parkinson Disease 13, Autosomal Dominant

Parkinson Disease 13

Parkinson Disease 13, Autosomal Dominant, Susceptibility To

PARK13

Parkinson Disease, Type 13

3-Methylglutaconic Aciduria

3-Methyl Glutaconic Aciduria

Parkinson Disease 2, Autosomal Recessive Juvenile

Young-Onset Parkinson Disease

PARK2

Pdj

Autosomal Recessive Juvenile Parkinson Disease 2

Epdf

Parkinson Disease, Juvenile, Type 2

Parkinson'S Disease 2

Autosomal Recessive Juvenile Parkinson Disease

Early-Onset Parkinson Disease

Parkinson Disease 2

Parkinson Disease, Juvenile, Autosomal Recessive

Parkinsonism, Early-Onset, With Diurnal Fluctuation

Autosomal Recessive Juvenile Parkinson'S Disease 2

Jp

Juvenile Parkinsonism

Parkinson Disease Autosomal Recessive, Early Onset

Parkinsonism, Early Onset, With Diurnal Fluctuation

Yopd

Autosomal Recessive Early-Onset Parkinson Disease Type 2

Chromosome 6-Linked Autosomal Recessive Parkinsonism

Early-Onset Parkinsonism With Diurnal Fluctuation

Parkinsonism Young Adult Onset

Parkinson Disease, Type 2

Parkinsonism, Juvenile

Tremor

Medicament-Induced Tremor

Medication-Induced Postural Tremor

Essential Tremor

Benign Essential Tremor

Familial Tremor

Hereditary Essential Tremor

Essential Hereditary Tremor

Shaky Hand Syndrome

Benign Essential Tremor Syndrome

Tremor Hereditary Essential

Essential Tremor, Susceptibility To

Tremor, Hereditary Essential

Tremor, Hereditary Essential, 1

ETM1

Fet1

Essential Tremor 1

Tremor, Familial Essential, 1

Essential Tremor, Hereditary, 1

Hereditary Essential Tremor 1

Tremor Hereditary Essential, 1

Tremor Familial Essential, 1

Tremor, Hereditary Essential 1

Tremor, Essential Hereditary, Type 1

Parkinson Disease 3, Autosomal Dominant

PARK3

Parkinson Disease 3

Parkinson Disease 3, Autosomal Dominant Lewy Body

Parkinson'S Disease 3

Autosomal Dominant Lewy Body Parkinson Disease 3

Autosomal Dominant Parkinson Disease 3

Parkinson Disease Type 3

Autosomal Dominant Parkinson Disease

Parkinson Disease, Autosomal Dominant

Parkinson Disease, Familial, Type 1

3-Methylglutaconic Aciduria With Cataracts, Neurologic Involvement And Neutropenia

3-Methylglutaconic Aciduria Type 7

Mga7

3-Methylglutaconic Aciduria Type Vii

Megcann

Mgca7

3-Methylglutaconic Aciduria-Cataract-Neurologic Involvement-Neutropenia Syndrome

3-Methylglutaconic Aciduria With Cataracts, Neurologic Involvement, And Neutropenia

Parkinsonism

Parkinsonism-Plus

Idiopathic Parkinsonism

Primary Parkinsonism

Paralysis Agitans Syndrome

Parkinsonian Syndrome

Trembling Paralysis

Paralysis Agitans

Shaking Palsy

Shaking Paralysis

Parkinson Disease, Late-Onset

Parkinson Disease

Parkinson'S Disease

PD

PARK

Parkinson Disease, Susceptibility To

Late Onset Parkinson'S Disease

Late Onset Parkinson Disease

Paralysis Agitans

Primary Parkinsonism

Idiopathic Parkinson Disease

Parkinson'S

Parkinson Disease, Late-Onset, Susceptibility To

Parkinson Disease, Age Of Onset, Modifier

Lewy Body Parkinson Disease

Idiopathic Parkinson'S Disease

Pd - [Parkinson Disease]

Parkinson Disease Nos

Parkinson, Nos

Primary Parkinson Disease

Combat Disorder

Combat Disorders

Combat Neurosis

3-Methylglutaconic Aciduria, Type Iii

Optic Atrophy

3-Methylglutaconic Aciduria Type 3

Costeff Syndrome

Mga3

Costeff Optic Atrophy Syndrome

Optic Atrophy Plus Syndrome

Infantile Optic Atrophy With Chorea And Spastic Paraplegia

3-Methylglutaconic Aciduria Type Iii

Autosomal Recessive Optic Atrophy Plus Syndrome

Autosomal Recessive Optic Atrophy Type 3

Opa3 Defect

MGCA3

Mga, Type Iii

Iraqi Jewish Optic Atrophy Plus

Mga Type Iii

Optic Atrophy, Infantile, With Chorea And Spastic Paraplegia

Iraqi-Jewish 'Optic Atrophy Plus'

Optic Atrophy 3, Autosomal Recessive

Opa3, Autosomal Recessive

Opa3-Related 3-Methylglutaconic Aciduria

Iraqi-Jewish Optic Atrophy Plus

Atrophy Of Optic Disc

3-Alpha Methylglutaconic Aciduria Type Iii

Optic Atrophy 3

Optic Atrophy Infantile With Chorea And Spastic Paraplegia

Autosomal Recessive Opa3

Autosomal Recessive Optic Atrophy 3

3-Methylglutaconic Aciduria 3

3-Alpha-Methylglutaconic Aciduria Type 3

Optic Atrophy 3 Autosomal Recessive

Atrophy, Optic

Atrophy, Optic, Plus Syndrome

Optic Nerve Atrophy

Primary Optic Atrophy

Oa - [Optic Atrophy]

Second Cranial Nerve Atrophy

Second Cranium Nerve Atrophy

Movement Disease

Movement Disorders

Movement Disorder

Microcephaly

Microencephaly

Microcephalus

Microcephalic

Nanocephaly

Congenital Microcephaly

Brain Hypoplasia

Brain Nondevelopment

Cephalic Hypoplasia

Undeveloped Cerebrum

Undeveloped Brain

Micrencephalon

Micrencephaly

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

Species Symbol Source ID
Canis familiaris HTRA2 VGNC VGNC:41836
Rattus norvegicus HTRA2 RGD RGD:1308906
Felis catus HTRA2 VGNC VGNC:62855
Macaca mulatta HTRA2 VGNC VGNC:73390
Bos taurus HTRA2 VGNC VGNC:30005
Mus musculus HTRA2 MGD MGI:1928676
Others HTRA2 NCBI