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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

ADPRHL2 Gene

protein-coding   GIFtS: 54
GCID: GC01P036554

ADP-ribosylhydrolase like 2

 Explore 2 diseases affiliated with
ADPRHL2 via our new
 Human Malady Compendium 
Biological research products
for ADPRHL2
    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section

Aliases
ADP-Ribosylhydrolase Like 21 2     EC 3.2.1.1433 8
ARH31 2 3 5     FLJ204461
[Protein ADP-Ribosylarginine] Hydrolase-Like Protein 22 3     Poly(ADP-Ribose) Glycohydrolase ARH32
ADP-Ribosylhydrolase 32 3     Protein ADP-Ribosylarginine Hydrolase-Like Protein 22

External Ids:    HGNC: 213041   Entrez Gene: 549362   Ensembl: ENSG000001168637   OMIM: 6106245   UniProtKB: Q9NX463   

Export aliases for ADPRHL2 gene to outside databases

Previous GC identifers: GC01P035981 GC01P035982 GC01P036223 GC01P036327 GC01P034671


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for ADPRHL2:
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)

UniProtKB/Swiss-Prot: ARHL2_HUMAN, Q9NX46
Function: Poly(ADP-ribose) synthesized after DNA damage is only present transiently and is rapidly degraded by
poly(ADP-ribose) glycohydrolase. Poly(ADP-ribose) metabolism may be required for maintenance of the normal function of
neuronal cells. Generates ADP-ribose from poly-(ADP-ribose), but does not hydrolyze ADP-ribose-arginine, -cysteine,
-diphthamide, or -asparagine bonds. Due to catalytic inactivity of PARG mitochondrial isoforms, ARH3 is the only PAR
hydrolyzing enzyme in mitochondria

Gene Wiki entry for ADPRHL2


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000001.10  NC_018912.1  NT_032977.9  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the ADPRHL2 gene promoter:
         HOXA9   HOXA9B   AREB6   HTF   ARP-1   Hand1   Meis-1a   Meis-1   E47   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidADPRHL2 promoter sequence
   Search SABiosciences Chromatin IP Primers for ADPRHL2

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat ADPRHL2


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 1p34.3   Ensembl cytogenetic band:  1p34.3   HGNC cytogenetic band: 1p34.3

ADPRHL2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
ADPRHL2 gene location

GeneLoc information about chromosome 1         GeneLoc Exon Structure

GeneLoc location for GC01P036554:  view genomic region     (about GC identifiers)

Start:
36,554,453 bp from pter      End:
36,559,533 bp from pter
Size:
5,081 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: ARHL2_HUMAN, Q9NX46 (See protein sequence)
Recommended Name: Poly(ADP-ribose) glycohydrolase ARH3 precursor  
Size: 363 amino acids; 38947 Da
Cofactor: Binds 2 magnesium ions per subunit
Subunit: Monomer (By similarity)
Subcellular location: Cytoplasm. Mitochondrion matrix. Nucleus
Sequence caution: Sequence=AAK14922.1; Type=Frameshift; Positions=Several;
3 PDB 3D structures from and Proteopedia for ADPRHL2:
2FOZ (3D)        2FP0 (3D)        2G4K (3D)    
Secondary accessions: Q53G94 Q6IAB8 Q9BY47

Explore the universe of human proteins at neXtProt for ADPRHL2: NX_Q9NX46

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q9NX46

  • 4/7 DME Specific Peptides for ADPRHL2 (Q9NX46) (see all 7)
     YTDDTAM  GNGGAMR  SLGYNGA  ELGNGIAA 

    ADPRHL2 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_060295.1  
    ENSEMBL proteins: 
     ENSP00000362273  

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    Uscn Proteins for ADPRHL2

    Gene Ontology (GO): 4 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IDA--
    GO:0005730NOT nucleolus IDA--
    GO:0005737cytoplasm ----
    GO:0005759mitochondrial matrix IEA--


    ADPRHL2 for ontologies           About GeneDecksing



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    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    ADPRHL2 for domains           About GeneDecksing

    1 InterPro domain/family:
     IPR005502 Ribosyl_crysJ1

    Graphical View of Domain Structure for InterPro Entry Q9NX46

    ProtoNet protein and cluster: Q9NX46

    1 Blocks protein family: IPB005502 ADP-ribosylglycohydrolase

    UniProtKB/Swiss-Prot: ARHL2_HUMAN, Q9NX46
    Similarity: Belongs to the ADP-ribosylglycohydrolase family


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section

    Function Summary:

         UniProtKB/Swiss-Prot: ARHL2_HUMAN, Q9NX46
    Function: Poly(ADP-ribose) synthesized after DNA damage is only present transiently and is rapidly degraded by
    poly(ADP-ribose) glycohydrolase. Poly(ADP-ribose) metabolism may be required for maintenance of the normal function of
    neuronal cells. Generates ADP-ribose from poly-(ADP-ribose), but does not hydrolyze ADP-ribose-arginine, -cysteine,
    -diphthamide, or -asparagine bonds. Due to catalytic inactivity of PARG mitochondrial isoforms, ARH3 is the only PAR
    hydrolyzing enzyme in mitochondria
    Catalytic activity: Hydrolyzes poly(ADP-D-ribose) at glycosidic (1''-2') linkage of ribose-ribose bond to produce free
    ADP-D-ribose
    Enzyme regulation: Activity is enhanced by magnesium

    Enzyme Number (IUBMB): EC 3.2.1.1431 2

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    Gene Ontology (GO): 3 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004649poly(ADP-ribose) glycohydrolase activity IEA--
    GO:0016787hydrolase activity ----
    GO:0046872metal ion binding IEA--


    ADPRHL2 for ontologies           About GeneDecksing


    1 GenomeRNAi human phenotype for ADPRHL2:
     Synthetic lethal with Ras 


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
    About This Section



    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for ADPRHL2

    STRING Interaction Network Preview (showing 1 interactants - click image to see more details)

    3 Interacting proteins for ADPRHL2 (Q9NX462, 3 ENSP000003622734) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    FRA10AC1Q70Z532, 3, ENSP000003604884MINT-64739 I2D: score=4 STRING: ENSP00000360488
    HEXDCQ8WVB32, 3MINT-65045 I2D: score=5 
    OPCMLQ149823I2D: score=1 
    About this table

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
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    Browse Tocris compounds for ADPRHL2

    2 HMDB Compounds for ADPRHL2    About this table
    CompoundSynonyms CAS #PubMed Ids
    ADPadenosindiphosphorsaeure (see all 8)58-64-0--
    MagnesiumMagnesium (see all 2)7439-95-4--
    Search CenterWatch for drugs/clinical trials and news about ADPRHL2 / ARHL2 

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
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    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for ADPRHL2 gene: 
    NM_017825.2  

    Unigene Cluster for ADPRHL2:

    ADP-ribosylhydrolase like 2
    Hs.18021  [show with all ESTs]
    Unigene Representative Sequence: AJ427295
    2 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000373178(uc001bzt.3) ENST00000468594

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    Additional cDNA sequence: 

    AF212236.1 AJ427295.1 AK000453.1 AK223037.1 AK295283.1 AK316349.1 BC014169.2 CR457237.1 

    10 DOTS entries:

    DT.116293  DT.100782024  DT.101981957  DT.100782036  DT.95201732  DT.100782033  DT.100799260  DT.121428859 
    DT.121428866  DT.97773038 

    24/278 AceView cDNA sequences (see all 278):

    BX405997 AI961718 AI360136 BM927590 BE733852 BQ922408 AI362732 CA313738 
    CR607590 BU193025 AK000453 AL557348 BI834255 AA324984 BF685594 CR609775 
    CB996915 BM550782 AI096377 BI762517 AL520682 BQ061378 AL558345 CR619091 

    GeneLoc Exon Structure

    4 Alternative Splicing Database (ASD) splice patterns (SP) for ADPRHL2    About this scheme

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


    ECgene alternative splicing isoforms for ADPRHL2

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    ADPRHL2 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: TGGCTTATTA

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)

    About this image

    ADPRHL2 expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    1 LifeMap In Vivo Development Anatomical Compartment/Cell 
    Tissue Anatomical Compartment CellCategory (developmental path)
    TrophoblastMural TrophectodermMural Trophectoderm CellsExtraembryonic Tissues
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization

    See ADPRHL2 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for ADPRHL2

    SOURCE GeneReport for Unigene cluster: Hs.18021

    UniProtKB/Swiss-Prot: ARHL2_HUMAN, Q9NX46
    Tissue specificity: Ubiquitous

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    In Situ
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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the last universal common ancestor (LUCA).

    Orthologs for ADPRHL2 gene from 7/20 species (see all 20)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Adprhl21 , 5 ADP-ribosylhydrolase like 21, 5 87.11(n)1
    91.71(a)1
      4 (60.36 cM)5
    1002061  NM_133883.21  NP_598644.11 
     1263160475 
    chicken
    (Gallus gallus)
    Aves ADPRHL21 ADP-ribosylhydrolase like 2 69.86(n)
    69.58(a)
      419626  NM_001006312.1  NP_001006312.1 
    lizard
    (Anolis carolinensis)
    Reptilia ADPRHL26
    --
    67(a)
    1 ↔ 1
    GL343488.1(613295-618311)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia Str.34942 Transcribed sequence with weak similarity to protein more 73.3(n)    AL857680.2 
    zebrafish
    (Danio rerio)
    Actinopterygii wufj36e062 Transcribed sequence with weak similarity to protein more 73.45(n)    57076760 
    mosquito
    (Anopheles gambiae)
    Insecta AgaP_AGAP0025301 AGAP002530-PA 50.46(n)
    40.73(a)
      1273432  XM_312408.4  XP_312408.3 
    E. coli
    (Escherichia coli)
    Gamma proteobacteria yegU6
    predicted hydrolase
    23(a)
    1 ↔ 1
    Chromosome(2178117-2179121)


    ENSEMBL Gene Tree for ADPRHL2 (if available)
    TreeFam Gene Tree for ADPRHL2 (if available) 

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
      --

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/119 NCBI SNPs in ADPRHL2 are shown (see all 119    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 1 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs112638521,2
    C,A,H,--36554442(+) GGAGCC/GCTGCG 1 -- us2k110Minor allele frequency- G:0.39MN EA NA WA 1620
    rs175514721,2
    C,F,H,--36554449(+) TGCGGA/CCGGAA 1 -- us2k111Minor allele frequency- C:0.01MN EA NS 2648
    rs1999640841,2
    C--36554541(-) GCCCCC/TCCACC 2 G syn10--------
    rs1877768431,2
    --36554691(+) GACCCC/TGGCAC 2 P syn10--------
    rs2006757521,2
    --36554737(+) CGCAAG/TTCAGA 1 -- int10--------
    rs1910370691,2
    --36554837(+) GGCCAC/GAGCCG 1 -- int10--------
    rs1821147121,2
    --36554890(+) TCTCCA/GGCCTT 1 -- int10--------
    rs1880262771,2
    --36554973(+) ATAAAC/TCCATC 1 -- int10--------
    rs1437530581,2
    --36555090(+) GTTATC/TAGAAA 1 -- int10--------
    rs1136504651,2
    --36555152(+) CCTTGC/TCGACT 1 -- int11Minor allele frequency- T:0.50CSA 2

    HapMap Linkage Disequilibrium report for ADPRHL2 (36554453 - 36559533 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for ADPRHL2: --

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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

    ADPRHL2 for disorders           About GeneDecksing

    OMIM gene information: 610624    OMIM disorders: --

    2 diseases for ADPRHL2:    About MalaCards
    diphtheria    neuronitis


    Export disorders for ADPRHL2 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for ADPRHL2 gene, integrated from 9 sources (see all 17):
    (articles sorted by number of sources associating them with ADPRHL2)
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    1. Identification and characterization of a mammalian 39-kDa poly(ADP- ribose) glycohydrolase. (PubMed id 16278211)1, 2, 3, 9 Oka S.... Moss J. (2006)
    2. The family of toxin-related ecto-ADP-ribosyltransferases in humans and the mouse. (PubMed id 12070318)1, 2, 3 Glowacki G....Koch-Nolte F. (2002)
    3. The structure of human ADP-ribosylhydrolase 3 (ARH3) provides insights into the reversibility of protein ADP-ribosylation. (PubMed id 17015823)1, 2, 9 Mueller-Dieckmann C.... Koch-Nolte F. (2006)
    4. ADP-ribosylhydrolase 3 (ARH3), not poly(ADP-ribose) gl ycohydrolase (PARG) isoforms, is responsible for degradation of mitochondrial ma trix-associated poly(ADP-ribose). (PubMed id 22433848)1, 2 Niere M....Ziegler M. (2012)
    5. Functional localization of two poly(ADP-ribose)-degrading enzymes to the mitochondrial matrix. (PubMed id 17991898)1, 2 Niere M....Ziegler M. (2008)
    6. The DNA sequence and biological annotation of human chromosome 1. (PubMed id 16710414)1, 2 Gregory S.G.... Bentley D.R. (2006)
    7. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
    8. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    9. The structure and catalytic mechanism of a poly(ADP-ribose) glycohydrolase. (PubMed id 21892188)2 Slade D.... Ahel I. (2011)
    10. Initial characterization of the human central proteome. (PubMed id 21269460)2 Burkard T.R.... Colinge J. (2011)

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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 54936 HGNC: 21304 AceView: ADPRHL2 Ensembl:ENSG00000116863 euGenes: HUgn54936
    ECgene: ADPRHL2 H-InvDB: ADPRHL2

    (According to HUGE)
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    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for ADPRHL2 Pharmacogenomics, SNPs, Pathways

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    Patent Information for ADPRHL2 gene:
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