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Aliases for ALKBH2 Gene

Aliases for ALKBH2 Gene

  • AlkB Homolog 2, Alpha-Ketoglutarate Dependent Dioxygenase 2 3 5
  • Alpha-Ketoglutarate-Dependent Dioxygenase AlkB Homolog 2 3 4
  • Alkylated DNA Repair Protein AlkB Homolog 2 3 4
  • DNA Oxidative Demethylase ALKBH2 3 4
  • Oxy DC1 3 4
  • ABH2 3 4
  • AlkB, Alkylation Repair Homolog 2 (E. Coli) 2
  • AlkB, Alkylation Repair Homolog 2 3
  • 2OG-Fe(II) Oxy DC1 3
  • EC 1.14.11.33 4

External Ids for ALKBH2 Gene

Previous GeneCards Identifiers for ALKBH2 Gene

  • GC12M108010
  • GC12M109525
  • GC12M106544

Summaries for ALKBH2 Gene

Entrez Gene Summary for ALKBH2 Gene

  • The Escherichia coli AlkB protein protects against the cytotoxicity of methylating agents by repair of the specific DNA lesions generated in single-stranded DNA. ALKBH2 and ALKBH3 (MIM 610603) are E. coli AlkB homologs that catalyze the removal of 1-methyladenine and 3-methylcytosine (Duncan et al., 2002 [PubMed 12486230]).[supplied by OMIM, Mar 2008]

GeneCards Summary for ALKBH2 Gene

ALKBH2 (AlkB Homolog 2, Alpha-Ketoglutarate Dependent Dioxygenase) is a Protein Coding gene. Among its related pathways are DNA Damage Reversal and DNA Double-Strand Break Repair. Gene Ontology (GO) annotations related to this gene include oxidoreductase activity and ferrous iron binding.

UniProtKB/Swiss-Prot for ALKBH2 Gene

  • Dioxygenase that repairs alkylated DNA and RNA containing 1-methyladenine and 3-methylcytosine by oxidative demethylation. Can also repair alkylated DNA containing 1-ethenoadenine (in vitro). Has strong preference for double-stranded DNA. Has low efficiency with single-stranded substrates. Requires molecular oxygen, alpha-ketoglutarate and iron.

Additional gene information for ALKBH2 Gene

No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ALKBH2 Gene

Genomics for ALKBH2 Gene

GeneHancer (GH) Regulatory Elements for ALKBH2 Gene

Promoters and enhancers for ALKBH2 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH12J109096 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE dbSUPER 600.4 -5.1 -5057 3.4 SP1 ZFX MNT ZNF148 NKRF ZNF121 FOS MYC TFE3 ZBTB7A UNG ALKBH2 WSCD2 ACACB MYO1H GC12M109089 GC12P109058 GC12P109057
GH12J109091 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 609.7 +0.6 644 2.3 SP1 CC2D1A CTCF ELF3 MNT ZNF148 NKRF POLR2A MLLT1 ZNF121 ALKBH2 SART3 UBE3B ACACB RNU4-32P GC12M109089 RNA5SP372 GC12P109057 GC12P109058
GH12J109475 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 21.3 -383.2 -383170 4.4 ZFX CC2D1A MNT SIX5 ZNF148 NKRF ZNF121 POLR2A GTF2F1 CSDE1 KCTD10 UBE3B SART3 IFT81 RNU4-32P ALKBH2 FAM216A USP30 ARPC3 CORO1C
GH12J109993 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 20.9 -906.6 -906597 12.7 SP1 ZFX CC2D1A ELF3 MNT SIX5 CBFA2T2 ZNF148 NKRF POLR2A ANKRD13A GIT2 ENSG00000280426 IFT81 RNU4-32P UBE3B ALKBH2 FAM216A ANAPC7 ARPC3
GH12J109130 Promoter/Enhancer 2.1 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 17.5 -38.2 -38216 3.4 SP1 GLIS2 RXRA ZIC2 SCRT2 CHD2 SCRT1 ATF3 YY1 POLR2A ACACB LOC105369974 ALKBH2 UNG MYO1H TRPV4 ENSG00000256139 GC12P109057 GC12P109058
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around ALKBH2 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the ALKBH2 gene promoter:
  • AML1a
  • AP-2alpha
  • AP-2alphaA
  • AP-2beta
  • AP-2gamma
  • Arnt
  • CBF(2)
  • Egr-1
  • HEN1
  • NF-Y

Genomic Locations for ALKBH2 Gene

Genomic Locations for ALKBH2 Gene
chr12:109,088,188-109,093,631
(GRCh38/hg38)
Size:
5,444 bases
Orientation:
Minus strand
chr12:109,525,993-109,531,436
(GRCh37/hg19)
Size:
5,444 bases
Orientation:
Minus strand

Genomic View for ALKBH2 Gene

Genes around ALKBH2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ALKBH2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ALKBH2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ALKBH2 Gene

Proteins for ALKBH2 Gene

  • Protein details for ALKBH2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q6NS38-ALKB2_HUMAN
    Recommended name:
    DNA oxidative demethylase ALKBH2
    Protein Accession:
    Q6NS38
    Secondary Accessions:
    • A4PET2
    • Q5XLE3

    Protein attributes for ALKBH2 Gene

    Size:
    261 amino acids
    Molecular mass:
    29322 Da
    Cofactor:
    Name=Fe(2+); Xref=ChEBI:CHEBI:29033;
    Quaternary structure:
    No Data Available

    Three dimensional structures from OCA and Proteopedia for ALKBH2 Gene

    Alternative splice isoforms for ALKBH2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ALKBH2 Gene

Post-translational modifications for ALKBH2 Gene

  • Ubiquitination at isoforms=111 and isoforms=104
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for ALKBH2 Gene

Domains & Families for ALKBH2 Gene

Gene Families for ALKBH2 Gene

HGNC:
Human Protein Atlas (HPA):
  • Enzymes
  • Predicted intracellular proteins

Protein Domains for ALKBH2 Gene

Suggested Antigen Peptide Sequences for ALKBH2 Gene

GenScript: Design optimal peptide antigens:
  • Oxy DC1 (ALKB2_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q6NS38

UniProtKB/Swiss-Prot:

ALKB2_HUMAN :
  • Belongs to the alkB family.
Family:
  • Belongs to the alkB family.
genes like me logo Genes that share domains with ALKBH2: view

Function for ALKBH2 Gene

Molecular function for ALKBH2 Gene

UniProtKB/Swiss-Prot Function:
Dioxygenase that repairs alkylated DNA and RNA containing 1-methyladenine and 3-methylcytosine by oxidative demethylation. Can also repair alkylated DNA containing 1-ethenoadenine (in vitro). Has strong preference for double-stranded DNA. Has low efficiency with single-stranded substrates. Requires molecular oxygen, alpha-ketoglutarate and iron.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=2-oxoglutarate + a methylated nucleobase within DNA + O2 = a nucleobase within DNA + CO2 + formaldehyde + succinate; Xref=Rhea:RHEA:30299, Rhea:RHEA-COMP:12192, Rhea:RHEA-COMP:12193, ChEBI:CHEBI:15379, ChEBI:CHEBI:16526, ChEBI:CHEBI:16810, ChEBI:CHEBI:16842, ChEBI:CHEBI:30031, ChEBI:CHEBI:32875, ChEBI:CHEBI:64428; EC=1.14.11.33;.
UniProtKB/Swiss-Prot EnzymeRegulation:
Activated by ascorbate and magnesium ions.

Enzyme Numbers (IUBMB) for ALKBH2 Gene

Phenotypes From GWAS Catalog for ALKBH2 Gene

Gene Ontology (GO) - Molecular Function for ALKBH2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008198 ferrous iron binding IDA 18432238
GO:0016491 oxidoreductase activity IEA --
GO:0016706 oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors IEA --
GO:0043734 DNA-N1-methyladenine dioxygenase activity IBA,IDA 18432238
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with ALKBH2: view
genes like me logo Genes that share phenotypes with ALKBH2: view

Animal Models for ALKBH2 Gene

MGI Knock Outs for ALKBH2:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ALKBH2

Clone Products

  • Applied Biological Materials (abm): Clones for ALKBH2 - Now 50% OFF >
  • * ALKBH2 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
  • * ALKBH2 tags and reporters available: His, HA, Myc, Flag, GFP, RFP, Luciferase - Browse All

No data available for Human Phenotype Ontology , miRNA , Transcription Factor Targets and HOMER Transcription for ALKBH2 Gene

Localization for ALKBH2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ALKBH2 Gene

Nucleus. Note=Detected in replication foci during S-phase.

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 ALKBH2 gene
Compartment Confidence
nucleus 5
cytoskeleton 4
cytosol 2

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for ALKBH2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA --
GO:0005654 nucleoplasm TAS --
GO:0015630 microtubule cytoskeleton IDA --
genes like me logo Genes that share ontologies with ALKBH2: view

Pathways & Interactions for ALKBH2 Gene

genes like me logo Genes that share pathways with ALKBH2: view

Gene Ontology (GO) - Biological Process for ALKBH2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006281 DNA repair IEA --
GO:0006307 DNA dealkylation involved in DNA repair TAS,IBA 18775698
GO:0006974 cellular response to DNA damage stimulus IEA --
GO:0035511 oxidative DNA demethylation IDA,IBA 18432238
GO:0055114 oxidation-reduction process IEA --
genes like me logo Genes that share ontologies with ALKBH2: view

No data available for SIGNOR curated interactions for ALKBH2 Gene

Drugs & Compounds for ALKBH2 Gene

(7) Drugs for ALKBH2 Gene - From: DrugBank and HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Vitamin C Approved Nutra Target 696,696
Formaldehyde Approved, Vet_approved Pharma 121
Iron Approved, Experimental Pharma 1426
Oxygen Approved, Vet_approved Pharma 0
Succinic acid Approved Nutra Full agonist, Agonist 0
genes like me logo Genes that share compounds with ALKBH2: view

Transcripts for ALKBH2 Gene

Unigene Clusters for ALKBH2 Gene

AlkB, alkylation repair homolog 2 (E. coli):
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ALKBH2

Clone Products

  • Applied Biological Materials (abm): Clones for ALKBH2 - Now 50% OFF >
  • * ALKBH2 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
  • * ALKBH2 tags and reporters available: His, HA, Myc, Flag, GFP, RFP, Luciferase - Browse All

Alternative Splicing Database (ASD) splice patterns (SP) for ALKBH2 Gene

ExUns: 1a · 1b · 1c · 1d ^ 2a · 2b · 2c · 2d ^ 3a · 3b · 3c ^ 4a · 4b · 4c
SP1: - -
SP2: - - - - -
SP3:
SP4: - - -
SP5:
SP6: -

Relevant External Links for ALKBH2 Gene

GeneLoc Exon Structure for
ALKBH2
ECgene alternative splicing isoforms for
ALKBH2

Expression for ALKBH2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for ALKBH2 Gene

Protein differential expression in normal tissues from HIPED for ALKBH2 Gene

This gene is overexpressed in Peripheral blood mononuclear cells (58.7) and CD4 Tcells (10.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for ALKBH2 Gene



Protein tissue co-expression partners for ALKBH2 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of ALKBH2 Gene:

ALKBH2

SOURCE GeneReport for Unigene cluster for ALKBH2 Gene:

Hs.374458

mRNA Expression by UniProt/SwissProt for ALKBH2 Gene:

Q6NS38-ALKB2_HUMAN
Tissue specificity: Detected in colon, small intestine, ovary, testis, prostate, skeletal muscle, heart, liver and urinary bladder.

Evidence on tissue expression from TISSUES for ALKBH2 Gene

  • Skin(4.2)
genes like me logo Genes that share expression patterns with ALKBH2: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for ALKBH2 Gene

Orthologs for ALKBH2 Gene

This gene was present in the common ancestor of chordates.

Orthologs for ALKBH2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia ALKBH2 35 34
  • 99.62 (n)
OneToOne
cow
(Bos Taurus)
Mammalia ALKBH2 35 34
  • 84.36 (n)
OneToOne
dog
(Canis familiaris)
Mammalia ALKBH2 35 34
  • 83.01 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Alkbh2 34
  • 79.78 (n)
mouse
(Mus musculus)
Mammalia Alkbh2 17 35 34
  • 79.15 (n)
oppossum
(Monodelphis domestica)
Mammalia ALKBH2 35
  • 65 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ALKBH2 35
  • 60 (a)
OneToOne
chicken
(Gallus gallus)
Aves ALKBH2 35 34
  • 67.09 (n)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia alkbh2 34
  • 60.24 (n)
Str.1974 34
zebrafish
(Danio rerio)
Actinopterygii alkbh2 35 34
  • 59.14 (n)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 26 (a)
OneToMany
Species where no ortholog for ALKBH2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • 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)
  • lizard (Anolis carolinensis)
  • 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 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 ALKBH2 Gene

ENSEMBL:
Gene Tree for ALKBH2 (if available)
TreeFam:
Gene Tree for ALKBH2 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for ALKBH2: view image

Paralogs for ALKBH2 Gene

No data available for Paralogs for ALKBH2 Gene

Variants for ALKBH2 Gene

Sequence variations from dbSNP and Humsavar for ALKBH2 Gene

SNP ID Clin Chr 12 pos Variation AA Info Type
rs1000132569 -- 109,091,841(-) C/T intron_variant
rs1000485534 -- 109,093,490(-) T/C 5_prime_UTR_variant, genic_upstream_transcript_variant, upstream_transcript_variant
rs1001040899 -- 109,093,638(-) A/G upstream_transcript_variant
rs1001111881 -- 109,090,267(-) CCCCCCCC/CCCCCCC/CCCCCCCCC intron_variant
rs1001564522 -- 109,090,385(-) A/C intron_variant

Structural Variations from Database of Genomic Variants (DGV) for ALKBH2 Gene

Variant ID Type Subtype PubMed ID
dgv1553n100 CNV gain 25217958
esv2422361 CNV duplication 17116639

Variation tolerance for ALKBH2 Gene

Residual Variation Intolerance Score: 80% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.61; 45.17% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for ALKBH2 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
ALKBH2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ALKBH2 Gene

Disorders for ALKBH2 Gene

Additional Disease Information for ALKBH2

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology

No disorders were found for ALKBH2 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for ALKBH2 Gene

Publications for ALKBH2 Gene

  1. The interaction between ALKBH2 DNA repair enzyme and PCNA is direct, mediated by the hydrophobic pocket of PCNA and perturbed in naturally-occurring ALKBH2 variants. (PMID: 26408825) Fu D … van Loon B (DNA repair 2015) 2 3 58
  2. Crystal structures of DNA/RNA repair enzymes AlkB and ABH2 bound to dsDNA. (PMID: 18432238) Yang CG … He C (Nature 2008) 3 4 58
  3. AlkB homologue 2-mediated repair of ethenoadenine lesions in mammalian DNA. (PMID: 18519673) Ringvoll J … Klungland A (Cancer research 2008) 3 4 58
  4. Repair of methylation damage in DNA and RNA by mammalian AlkB homologues. (PMID: 16174769) Lee DH … O'Connor TR (The Journal of biological chemistry 2005) 3 4 58
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 58

Products for ALKBH2 Gene

Sources for ALKBH2 Gene

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