ADP-ribosylhydrolase 2

(ADP-ribosyl)hydrolase 2 (ARH2) is a protein that in humans is encoded by the ADPRHL1 gene. ^[5]

ADPRHL1
Identifiers
Aliases	ADPRHL1, ARH2, ADP-ribosylhydrolase like 1
External IDs	OMIM: 610620; MGI: 2442168; HomoloGene: 16311; GeneCards: ADPRHL1; OMA:ADPRHL1 - orthologs
Gene location (Human) Chr. Chromosome 13 (human)[1] Band 13q34 Start 113,399,610 bp[1] End 113,453,524 bp[1]
Gene location (Mouse) Chr. Chromosome 8 (mouse)[2] Band 8|8 A1.1 Start 13,271,663 bp[2] End 13,304,162 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in myocardium of left ventricle cardiac muscle tissue of right atrium apex of heart right auricle of heart gastrocnemius muscle muscle of thigh right ventricle tibialis anterior muscle skeletal muscle tissue quadriceps femoris muscle Top expressed in myocardium of ventricle soleus muscle left ventricle muscle of thigh atrioventricular valve ankle atrium intercostal muscle aortic valve endocardial cushion More reference expression data BioGPS n/a
Gene ontology Molecular function magnesium ion binding hydrolase activity ADP-ribosylarginine hydrolase activity GTPase activator activity Cellular component endomembrane system intracellular anatomical structure Biological process protein de-ADP-ribosylation activation of GTPase activity intracellular protein transport regulation of vesicle fusion Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 113622 234072 Ensembl ENSG00000153531 ENSMUSG00000031448 UniProt Q8NDY3 Q8BGK2 RefSeq (mRNA) NM_199162 NM_138430 NM_172750 RefSeq (protein) NP_612439 NP_954631 NP_766338 Location (UCSC) Chr 13: 113.4 – 113.45 Mb Chr 8: 13.27 – 13.3 Mb PubMed search [3] [4]
Wikidata
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Function

Proteins of the ADP-ribosylhydrolase family are typically associated with the reversal of ADP-ribosylation a posttranslational modification used to regulate protein function. However, ARH2 misses catalytically important residues and is predicted to be catalytically inactive.^[6] ARH2 is a cardiac-specific protein and expressed exclusively in the developing heart of vertebrates.^[6] Gene loss and loss-of-function mutations are associated with defective heart chamber growth and myofibrillogenesis.^[6][7]

See also

• ADP-ribosylhydrolase