HTRA2

HTRA2
Strwythurau PDB Human UniProt search: PDBe RCSB Rhestr o ddynodwyr PDB 1LCY, 2PZD
Dynodwyr
Cyfenwau	HTRA2, Htra2, AI481710, Omi, Prss25, mnd2, PARK13, HtrA serine peptidase 2, MGCA8
Dynodwyr allanol	OMIM: 606441 HomoloGene: 113300 GeneCards: HTRA2
Patrwm RNA pattern Rhagor o gyfeiriadau
Ontoleg y genyn Gweithrediad moleciwlaidd • unfolded protein binding • GO:0001948, GO:0016582 protein binding • serine-type peptidase activity • serine-type endopeptidase activity • hydrolase activity • GO:0070122 peptidase activity • identical protein binding Cydrannau o'r gell • integral component of membrane • cytosol • endoplasmic reticulum membrane • bilen • mitochondrial membranes • mitochondrial intermembrane space • Reticwlwm endoplasmig • mitocondria • CD40 receptor complex • cytoplasmic side of plasma membrane • chromatin • Cytosgerbwd • cnewyllyn cell • serine-type endopeptidase complex Prosesau biolegol • cellular response to retinoic acid • cellular response to heat • positive regulation of cell death • ceramide metabolic process • cellular response to interferon-beta • regulation of multicellular organism growth • positive regulation of protein targeting to mitochondrion • execution phase of apoptosis • adult locomotory behavior • cellular response to growth factor stimulus • pentacyclic triterpenoid metabolic process • mitochondrion organization • negative regulation of cell cycle • neuron development • protein autoprocessing • positive regulation of cysteine-type endopeptidase activity involved in apoptotic signaling pathway • negative regulation of cell death • intrinsic apoptotic signaling pathway • positive regulation of extrinsic apoptotic signaling pathway in absence of ligand • regulation of autophagy of mitochondrion • intrinsic apoptotic signaling pathway in response to DNA damage • positive regulation of apoptotic process • forebrain development • negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway • response to herbicide • adult walking behavior • negative regulation of neuron death • GO:0097285 apoptotic process • GO:0010260 heneiddio • proteolysis • positive regulation of mitochondrion organization • cellular response to oxidative stress • negative regulation of mitophagy in response to mitochondrial depolarization • positive regulation of cysteine-type endopeptidase activity involved in apoptotic process • protein homotrimerization Sources:Amigo / QuickGO
Orthologau
Species	Bod dynol	Llygoden
Entrez	27429	n/a
Ensembl	ENSG00000115317	n/a
UniProt	O43464	n/a
RefSeq (mRNA)	NM_013247 NM_145074 NM_001321727 NM_001321728	n/a
RefSeq (protein)	NP_001308656 NP_001308657 NP_037379 NP_659540	n/a
Lleoliad (UCSC)	n/a	n/a
PubMed search		n/a
Wicidata
Gweld/Golygu Bod dynol

Protein sy'n cael ei godio yn y corff dynol gan y genyn HTRA2 yw HTRA2 a elwir hefyd yn HtrA serine peptidase 2 (Saesneg). Segment o DNA yw'r genyn, sy'n amgodio ffwythiant arbennig. Mae'r genyn yma wedi ei leoli ar yr edefyn blaen o gromosom dynol 2, band 2p13.1.

Cyfystyron

Yn aml mae gan enynnau lawer o gyfystyron. Mae hyn oherwydd eu bod yn aml yn cael eu darganfod gan nifer o bobl mewn cyd-destunau gwahanol heb wybod mai'r un genynnau oeddyn nhw. Hefyd mae gan wahanol gymunedau gwyddonol safonau gwahanol ar gyfer enwi genynnau. Dyma restr o gyfystyron ar gyfer y genyn HTRA2.

• OMI
• MGCA8
• PARK13
• PRSS25

Llyfryddiaeth

• "Pathogenic variants in HTRA2 cause an early-onset mitochondrial syndrome associated with 3-methylglutaconic aciduria. ". J Inherit Metab Dis. 2017. PMID 27696117.
• "Deficiency of HTRA2/Omi is associated with infantile neurodegeneration and 3-methylglutaconic aciduria. ". J Med Genet. 2016. PMID 27208207.
• "Pathogenic Role of Serine Protease HtrA2/Omi in Neurodegenerative Diseases. ". Curr Protein Pept Sci. 2017. PMID 26965693.
• "Intra- and intersubunit changes accompanying thermal activation of the HtrA2(Omi) protease homotrimer. ". Biochim Biophys Acta. 2016. PMID 26702898.
• "Mitochondrial serine protease HTRA2 gene mutation in Asians with coexistent essential tremor and Parkinson disease.". Neurogenetics. 2015. PMID 25791756.