This gene encodes a member of the ADP-ribosylglycohydrolase family. The encoded enzyme catalyzes the removal of ADP-ribose from ADP-ribosylated proteins. This enzyme localizes to the mitochondria, in addition to the nucleus and cytoplasm.[provided by RefSeq, Feb 2009] See more...

Aliases for ADPRHL2 Gene

Aliases for ADPRHL2 Gene

  • ADP-Ribosylhydrolase Like 2 2 3 5
  • [Protein ADP-Ribosylarginine] Hydrolase-Like Protein 2 3 4
  • [Protein ADP-Ribosylserine] Hydrolase 3 4
  • Poly(ADP-Ribose) Glycohydrolase ARH3 3 4
  • ADP-Ribosylarginine Hydrolase Like 2 2 3
  • O-Acetyl-ADP-Ribose Deacetylase ARH3 3 4
  • ADP-Ribose Glycohydrolase ARH3 3 4
  • ADP-Ribosylhydrolase 3 3 4
  • EC 3.2.1.143 4 54
  • ARH3 3 4
  • Protein ADP-Ribosylarginine Hydrolase-Like Protein 2 3
  • EC 3.5.1.- 4
  • EC 3.2.2.- 4
  • CONDSIAS 3

External Ids for ADPRHL2 Gene

Previous GeneCards Identifiers for ADPRHL2 Gene

  • GC01P035981
  • GC01P035982
  • GC01P036223
  • GC01P036327
  • GC01P036554
  • GC01P034671

Summaries for ADPRHL2 Gene

Entrez Gene Summary for ADPRHL2 Gene

  • This gene encodes a member of the ADP-ribosylglycohydrolase family. The encoded enzyme catalyzes the removal of ADP-ribose from ADP-ribosylated proteins. This enzyme localizes to the mitochondria, in addition to the nucleus and cytoplasm.[provided by RefSeq, Feb 2009]

GeneCards Summary for ADPRHL2 Gene

ADPRHL2 (ADP-Ribosylhydrolase Like 2) is a Protein Coding gene. Diseases associated with ADPRHL2 include Neurodegeneration, Childhood-Onset, Stress-Induced, With Variable Ataxia And Seizures and Hypercholesterolemia, Familial, 4. Gene Ontology (GO) annotations related to this gene include poly(ADP-ribose) glycohydrolase activity.

UniProtKB/Swiss-Prot Summary for ADPRHL2 Gene

  • ADP-ribose glycohydrolase that preferentially hydrolyzes the scissile alpha-O-linkage attached to the anomeric C1'' position of ADP-ribose and acts on different substrates, such as proteins ADP-ribosylated on serine, free poly(ADP-ribose) and O-acetyl-ADP-D-ribose (PubMed:21498885, PubMed:30045870, PubMed:29907568, PubMed:30401461). Specifically acts as a serine mono-ADP-ribosylhydrolase by mediating the removal of mono-ADP-ribose attached to serine residues on proteins, thereby playing a key role in DNA damage response (PubMed:28650317, PubMed:29234005, PubMed:30045870). Serine ADP-ribosylation of proteins constitutes the primary form of ADP-ribosylation of proteins in response to DNA damage (PubMed:29480802). Does not hydrolyze ADP-ribosyl-arginine, -cysteine, -diphthamide, or -asparagine bonds (PubMed:16278211). Also able to degrade protein free poly(ADP-ribose), which is synthesized in response to DNA damage: free poly(ADP-ribose) acts as a potent cell death signal and its degradation by ADPRHL2 protects cells from poly(ADP-ribose)-dependent cell death, a process named parthanatos (PubMed:16278211). Also hydrolyzes free poly(ADP-ribose) in mitochondria (PubMed:22433848). Specifically digests O-acetyl-ADP-D-ribose, a product of deacetylation reactions catalyzed by sirtuins (PubMed:17075046, PubMed:21498885). Specifically degrades 1''-O-acetyl-ADP-D-ribose isomer, rather than 2''-O-acetyl-ADP-D-ribose or 3''-O-acetyl-ADP-D-ribose isomers (PubMed:21498885).

Gene Wiki entry for ADPRHL2 Gene

Additional gene information for ADPRHL2 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for ADPRHL2 Gene

Genomics for ADPRHL2 Gene

GeneHancer (GH) Regulatory Elements for ADPRHL2 Gene

Promoters and enhancers for ADPRHL2 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around ADPRHL2 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the ADPRHL2 gene promoter:
  • AREB6
  • ARP-1
  • E47
  • Hand1
  • HOXA9
  • HOXA9B
  • HTF
  • Meis-1
  • Meis-1a

Genomic Locations for ADPRHL2 Gene

Genomic Locations for ADPRHL2 Gene
chr1:36,088,852-36,093,932
(GRCh38/hg38)
Size:
5,081 bases
Orientation:
Plus strand
chr1:36,554,453-36,559,533
(GRCh37/hg19)
Size:
5,081 bases
Orientation:
Plus strand

Genomic View for ADPRHL2 Gene

Genes around ADPRHL2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ADPRHL2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ADPRHL2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ADPRHL2 Gene

Proteins for ADPRHL2 Gene

  • Protein details for ADPRHL2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9NX46-ARHL2_HUMAN
    Recommended name:
    ADP-ribose glycohydrolase ARH3
    Protein Accession:
    Q9NX46
    Secondary Accessions:
    • Q53G94
    • Q6IAB8
    • Q9BY47

    Protein attributes for ADPRHL2 Gene

    Size:
    363 amino acids
    Molecular mass:
    38947 Da
    Cofactor:
    Name=Mg(2+); Xref=ChEBI:CHEBI:18420;
    Quaternary structure:
    • Monomer.
    SequenceCaution:
    • Sequence=AAK14922.1; Type=Frameshift; Positions=Several; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for ADPRHL2 Gene

neXtProt entry for ADPRHL2 Gene

Selected DME Specific Peptides for ADPRHL2 Gene

Q9NX46:
  • YTDDTAM
  • RFRGCLAGALLGDC
  • GNGGAMR
  • TIATMAGAIAGAYYG
  • SLGYNGA
  • AFESVPTAIY
  • ELGNGIAA

Post-translational modifications for ADPRHL2 Gene

  • Ubiquitination at Lys146
  • Modification sites at PhosphoSitePlus

Other Protein References for ADPRHL2 Gene

ENSEMBL proteins:
REFSEQ proteins:

Domains & Families for ADPRHL2 Gene

Gene Families for ADPRHL2 Gene

Human Protein Atlas (HPA):
  • Enzymes
  • Predicted secreted proteins

Protein Domains for ADPRHL2 Gene

Suggested Antigen Peptide Sequences for ADPRHL2 Gene

GenScript: Design optimal peptide antigens:
  • [Protein ADP-ribosylarginine] hydrolase-like protein 2 (ARHL2_HUMAN)
  • cDNA FLJ51852, highly similar to Homo sapiens ADP-ribosylhydrolase like 2 (ADPRHL2), mRNA (B4DHV5_HUMAN)
  • cDNA, FLJ79248, highly similar to Homo sapiens ADP-ribosylhydrolase like 2 (ADPRHL2), mRNA (B7ZAN4_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9NX46

UniProtKB/Swiss-Prot:

ARHL2_HUMAN :
  • Belongs to the ADP-ribosylglycohydrolase family.
Family:
  • Belongs to the ADP-ribosylglycohydrolase family.
genes like me logo Genes that share domains with ADPRHL2: view

Function for ADPRHL2 Gene

Molecular function for ADPRHL2 Gene

UniProtKB/Swiss-Prot Function:
ADP-ribose glycohydrolase that preferentially hydrolyzes the scissile alpha-O-linkage attached to the anomeric C1'' position of ADP-ribose and acts on different substrates, such as proteins ADP-ribosylated on serine, free poly(ADP-ribose) and O-acetyl-ADP-D-ribose (PubMed:21498885, PubMed:30045870, PubMed:29907568, PubMed:30401461). Specifically acts as a serine mono-ADP-ribosylhydrolase by mediating the removal of mono-ADP-ribose attached to serine residues on proteins, thereby playing a key role in DNA damage response (PubMed:28650317, PubMed:29234005, PubMed:30045870). Serine ADP-ribosylation of proteins constitutes the primary form of ADP-ribosylation of proteins in response to DNA damage (PubMed:29480802). Does not hydrolyze ADP-ribosyl-arginine, -cysteine, -diphthamide, or -asparagine bonds (PubMed:16278211). Also able to degrade protein free poly(ADP-ribose), which is synthesized in response to DNA damage: free poly(ADP-ribose) acts as a potent cell death signal and its degradation by ADPRHL2 protects cells from poly(ADP-ribose)-dependent cell death, a process named parthanatos (PubMed:16278211). Also hydrolyzes free poly(ADP-ribose) in mitochondria (PubMed:22433848). Specifically digests O-acetyl-ADP-D-ribose, a product of deacetylation reactions catalyzed by sirtuins (PubMed:17075046, PubMed:21498885). Specifically degrades 1''-O-acetyl-ADP-D-ribose isomer, rather than 2''-O-acetyl-ADP-D-ribose or 3''-O-acetyl-ADP-D-ribose isomers (PubMed:21498885).
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=[(1''->2')-ADP-alpha-D-ribose]n + H2O = [(1''->2')-ADP-alpha-D-ribose]n-1 + ADP-D-ribose; Xref=Rhea:RHEA:52216, Rhea:RHEA-COMP:15070, Rhea:RHEA-COMP:15071, ChEBI:CHEBI:15377, ChEBI:CHEBI:57967, ChEBI:CHEBI:142512; EC=3.2.1.143; Evidence={ECO:0000269 PubMed:16278211, ECO:0000269 PubMed:17075046, ECO:0000269 PubMed:22433848}; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:52217; Evidence={ECO:0000269 PubMed:16278211, ECO:0000269 PubMed:17075046, ECO:0000269 PubMed:22433848};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=1''-O-acetyl-ADP-alpha-D-ribose + H2O = acetate + ADP-D-ribose + H(+); Xref=Rhea:RHEA:58112, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:30089, ChEBI:CHEBI:57967, ChEBI:CHEBI:142511; Evidence={ECO:0000269 PubMed:17075046, ECO:0000269 PubMed:21498885}; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:58113; Evidence={ECO:0000269 PubMed:17075046, ECO:0000269 PubMed:21498885};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=H2O + O-(ADP-D-ribosyl)-L-seryl-[protein] = ADP-D-ribose + L-seryl-[protein]; Xref=Rhea:RHEA:58256, Rhea:RHEA-COMP:9863, Rhea:RHEA-COMP:15091, ChEBI:CHEBI:15377, ChEBI:CHEBI:29999, ChEBI:CHEBI:57967, ChEBI:CHEBI:142556; Evidence={ECO:0000269 PubMed:28650317, ECO:0000269 PubMed:29234005}; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:58257; Evidence={ECO:0000269 PubMed:28650317, ECO:0000269 PubMed:29234005};.
UniProtKB/Swiss-Prot EnzymeRegulation:
The protein undergoes a dramatic conformational switch from closed to open states upon substrate-binding, which enables specific substrate recognition for the 1''-O-linkage (PubMed:29907568). The glutamate flap (Glu-41) blocks substrate entrance to Mg(2+) in the unliganded closed state (PubMed:30045870, PubMed:29907568). In presence of substrate, Glu-41 is ejected from the active site: this closed-to-open transition significantly widens the substrate-binding channel and precisely positions the scissile 1''-O-linkage for cleavage while securing tightly 2'- and 3'-hydroxyls of ADP-ribose (PubMed:30045870, PubMed:29907568).

Enzyme Numbers (IUBMB) for ADPRHL2 Gene

Phenotypes From GWAS Catalog for ADPRHL2 Gene

Gene Ontology (GO) - Molecular Function for ADPRHL2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000287 magnesium ion binding IDA 30045870
GO:0004553 hydrolase activity, hydrolyzing O-glycosyl compounds IDA 30045870
GO:0004649 poly(ADP-ribose) glycohydrolase activity TAS --
GO:0016787 hydrolase activity IEA --
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with ADPRHL2: view
genes like me logo Genes that share phenotypes with ADPRHL2: view

Human Phenotype Ontology for ADPRHL2 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

CRISPR Products

miRNA for ADPRHL2 Gene

miRTarBase miRNAs that target ADPRHL2

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ADPRHL2

Clone Products

No data available for Animal Models , Transcription Factor Targets and HOMER Transcription for ADPRHL2 Gene

Localization for ADPRHL2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ADPRHL2 Gene

Nucleus. Cytoplasm. Chromosome. Mitochondrion matrix. Note=Recruited to DNA lesion regions following DNA damage; ADP-D-ribose-recognition is required for recruitment to DNA damage sites. {ECO:0000269 PubMed:30045870}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for ADPRHL2 gene
Compartment Confidence
nucleus 5
mitochondrion 4
extracellular 1
cytosol 1
endoplasmic reticulum 0

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for ADPRHL2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA,IBA 30045870
GO:0005654 nucleoplasm IDA --
GO:0005694 chromosome IEA --
GO:0005737 cytoplasm IEA --
GO:0005739 mitochondrion IBA 21873635
genes like me logo Genes that share ontologies with ADPRHL2: view

Pathways & Interactions for ADPRHL2 Gene

PathCards logo

SuperPathways for ADPRHL2 Gene

No Data Available

Gene Ontology (GO) - Biological Process for ADPRHL2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006281 DNA repair IMP 30045870
GO:0006974 cellular response to DNA damage stimulus IEA --
GO:0071451 cellular response to superoxide IMP 30401461
genes like me logo Genes that share ontologies with ADPRHL2: view

No data available for Pathways by source and SIGNOR curated interactions for ADPRHL2 Gene

Drugs & Compounds for ADPRHL2 Gene

(1) Drugs for ADPRHL2 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Magnesium Approved, Experimental, Investigational Pharma 0

(1) Additional Compounds for ADPRHL2 Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
ADP
  • 5'-Adenylphosphoric acid
  • Adenosine 5'-diphosphate
  • ADENOSINE-5'-diphosphATE
  • H3ADP
  • 5'-Adenylphosphate
Full agonist, Agonist, Partial agonist, Antagonist, Gating inhibitor 58-64-0
genes like me logo Genes that share compounds with ADPRHL2: view

Transcripts for ADPRHL2 Gene

mRNA/cDNA for ADPRHL2 Gene

(1) REFSEQ mRNAs :
(9) Additional mRNA sequences :
(278) Selected AceView cDNA sequences:
(1) Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ADPRHL2

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for ADPRHL2 Gene

ExUns: 1a · 1b · 1c ^ 2a · 2b ^ 3 ^ 4 ^ 5 ^ 6a · 6b ^ 7a · 7b
SP1: -
SP2: - -
SP3: - -
SP4:

Relevant External Links for ADPRHL2 Gene

GeneLoc Exon Structure for
ADPRHL2
ECgene alternative splicing isoforms for
ADPRHL2

Expression for ADPRHL2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for ADPRHL2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for ADPRHL2 Gene

This gene is overexpressed in Testis (6.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for ADPRHL2 Gene



Protein tissue co-expression partners for ADPRHL2 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of ADPRHL2 Gene:

ADPRHL2

SOURCE GeneReport for Unigene cluster for ADPRHL2 Gene:

Hs.18021

mRNA Expression by UniProt/SwissProt for ADPRHL2 Gene:

Q9NX46-ARHL2_HUMAN
Tissue specificity: Ubiquitous.

Evidence on tissue expression from TISSUES for ADPRHL2 Gene

  • Thyroid gland(4.3)
  • Skin(4.2)
  • Nervous system(3.4)
genes like me logo Genes that share expression patterns with ADPRHL2: view

No data available for mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for ADPRHL2 Gene

Orthologs for ADPRHL2 Gene

This gene was present in the common ancestor of animals.

Orthologs for ADPRHL2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia ADPRHL2 33 32
  • 99.45 (n)
OneToOne
cow
(Bos Taurus)
Mammalia ADPRHL2 33 32
  • 90.66 (n)
OneToOne
dog
(Canis familiaris)
Mammalia ADPRHL2 33 32
  • 89.79 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Adprhl2 17 33 32
  • 87.76 (n)
rat
(Rattus norvegicus)
Mammalia Adprhl2 32
  • 87.19 (n)
oppossum
(Monodelphis domestica)
Mammalia ADPRHL2 33
  • 77 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ADPRHL2 33
  • 73 (a)
OneToOne
chicken
(Gallus gallus)
Aves ADPRHL2 33 32
  • 70.29 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ADPRHL2 33
  • 66 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia adprhl2 32
  • 60.71 (n)
Str.3494 32
zebrafish
(Danio rerio)
Actinopterygii adprhl2 33 32
  • 57.94 (n)
OneToOne
wufj36e06 32
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP002530 32
  • 49.95 (n)
Species where no ortholog for ADPRHL2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for ADPRHL2 Gene

ENSEMBL:
Gene Tree for ADPRHL2 (if available)
TreeFam:
Gene Tree for ADPRHL2 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for ADPRHL2: view image

Paralogs for ADPRHL2 Gene

No data available for Paralogs for ADPRHL2 Gene

Variants for ADPRHL2 Gene

Sequence variations from dbSNP and Humsavar for ADPRHL2 Gene

SNP ID Clin Chr 01 pos Variation AA Info Type
rs1557732234 pathogenic, NEURODEGENERATION, CHILDHOOD-ONSET, STRESS-INDUCED, WITH VARIABLE ATAXIA AND SEIZURES 36,089,004(+) G/A 5_prime_UTR_variant, coding_sequence_variant, missense_variant
rs1557733311 pathogenic, NEURODEGENERATION, CHILDHOOD-ONSET, STRESS-INDUCED, WITH VARIABLE ATAXIA AND SEIZURES 36,091,267(+) A/C coding_sequence_variant, intron_variant, missense_variant
rs1557733367 pathogenic, NEURODEGENERATION, CHILDHOOD-ONSET, STRESS-INDUCED, WITH VARIABLE ATAXIA AND SEIZURES 36,091,323(+) GG/G coding_sequence_variant, frameshift, intron_variant
rs1557733597 pathogenic, NEURODEGENERATION, CHILDHOOD-ONSET, STRESS-INDUCED, WITH VARIABLE ATAXIA AND SEIZURES 36,091,721(+) CCTGCCC/CC 5_prime_UTR_variant, coding_sequence_variant, frameshift
rs1557734377 pathogenic, NEURODEGENERATION, CHILDHOOD-ONSET, STRESS-INDUCED, WITH VARIABLE ATAXIA AND SEIZURES 36,093,294(+) C/T coding_sequence_variant, stop_gained

Structural Variations from Database of Genomic Variants (DGV) for ADPRHL2 Gene

Variant ID Type Subtype PubMed ID
esv3329704 CNV duplication 20981092
nsv545992 CNV loss 21841781
nsv834691 CNV loss 17160897

Variation tolerance for ADPRHL2 Gene

Residual Variation Intolerance Score: 22.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 6.19; 75.94% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for ADPRHL2 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
ADPRHL2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ADPRHL2 Gene

Disorders for ADPRHL2 Gene

MalaCards: The human disease database

(3) MalaCards diseases for ADPRHL2 Gene - From: OMIM, ClinVar, DISEASES, and GeneCards

- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

ARHL2_HUMAN
  • Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures (CONDSIAS) [MIM:618170]: An autosomal recessive neurodegenerative disorder characterized by pediatric onset of progressive brain atrophy, developmental regression, and seizures in association with periods of stress, such as infections. {ECO:0000269 PubMed:30100084, ECO:0000269 PubMed:30401461}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for ADPRHL2

genes like me logo Genes that share disorders with ADPRHL2: view

No data available for Genatlas for ADPRHL2 Gene

Publications for ADPRHL2 Gene

  1. Identification and characterization of a mammalian 39-kDa poly(ADP-ribose) glycohydrolase. (PMID: 16278211) Oka S … Moss J (The Journal of biological chemistry 2006) 2 3 4 23 56
  2. The structure of human ADP-ribosylhydrolase 3 (ARH3) provides insights into the reversibility of protein ADP-ribosylation. (PMID: 17015823) Mueller-Dieckmann C … Koch-Nolte F (Proceedings of the National Academy of Sciences of the United States of America 2006) 3 4 23 56
  3. The family of toxin-related ecto-ADP-ribosyltransferases in humans and the mouse. (PMID: 12070318) Glowacki G … Koch-Nolte F (Protein science : a publication of the Protein Society 2002) 2 3 4 56
  4. (ADP-ribosyl)hydrolases: Structural Basis for Differential Substrate Recognition and Inhibition. (PMID: 30472116) Rack JGM … Ahel I (Cell chemical biology 2018) 2 3 56
  5. Serine is the major residue for ADP-ribosylation upon DNA damage. (PMID: 29480802) Palazzo L … Ahel I (eLife 2018) 3 4 56

Products for ADPRHL2 Gene

Sources for ADPRHL2 Gene