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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
  • Oxy DC1 3 4
  • ABH2 3 4
  • AlkB, Alkylation Repair Homolog 2 (E. Coli) 2
  • AlkB, Alkylation Repair Homolog 2 3
  • DNA Oxidative Demethylase ALKBH2 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. GO annotations related to this gene include oxidoreductase activity and ferrous iron binding. An important paralog of this gene is ALKBH3.

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.

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

Regulatory Elements for ALKBH2 Gene

Enhancers for ALKBH2 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH12G108587 1 ENCODE 41.6 +504.6 504615 2.4 HDGF ATF1 ZNF493 YBX1 TCF12 GATA2 FOS ZNF548 YY2 ZNF488 SART3 PWP1 UBE3B ALKBH2 PRDM4 RNU4-32P WSCD2 USP30 LOC101929162 SELPLG
GH12G108330 2 FANTOM5 Ensembl ENCODE dbSUPER 13.8 +760.0 759996 6.0 HDGF PKNOX1 CREB3L1 SIN3A FEZF1 ZNF2 YY1 ZNF143 FOS ZNF263 ALKBH2 SART3 PWP1 SELPLG GC12M108318 CMKLR1
GH12G109130 1.5 FANTOM5 Ensembl ENCODE dbSUPER 17.5 -38.2 -38216 3.4 TAF1 ZMYM3 MAX ZIC2 RAD21 YY1 ZFHX2 GLIS2 POLR2A SCRT2 ALKBH2 ACACB UNG MYO1H TRPV4 LOC105369974 ENSG00000256139
GH12G109197 1 ENCODE 22.4 -104.4 -104398 1.3 FOXA2 ATF1 ZNF133 ZNF493 ARID4B YBX1 ZBTB7B YY1 ZNF121 ZNF207 SART3 ALKBH2 UBE3B ACACB TRPV4 GC12M109174 PIR49936
GH12G108849 2.1 FANTOM5 Ensembl ENCODE dbSUPER 10.4 +239.3 239252 9.6 HDGF PKNOX1 ARNT WRNIP1 SIN3A ARID4B DMAP1 FEZF1 ZBTB7B YY1 SART3 ALKBH2 UBE3B CORO1C SSH1 ENSG00000257221 SELPLG MIR619
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around ALKBH2 on UCSC Golden Path with GeneCards custom track

Promoters for ALKBH2 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000057138 331 601 MLX CREB3L1 FEZF1 DMAP1 SLC30A9 ZNF143 ZNF263 SP3 NFYC TBX21

Genomic Location for ALKBH2 Gene

Chromosome:
12
Start:
109,088,188 bp from pter
End:
109,093,631 bp from pter
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 Lys104 and Lys111
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for ALKBH2 Gene

Domains & Families for ALKBH2 Gene

Gene Families for ALKBH2 Gene

Protein Domains for ALKBH2 Gene

Suggested Antigen Peptide Sequences for ALKBH2 Gene

GenScript: Design optimal peptide antigens:

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 CatalyticActivity:
DNA-base-CH(3) + 2-oxoglutarate + O(2) = DNA-base + formaldehyde + succinate + CO(2).
UniProtKB/Swiss-Prot EnzymeRegulation:
Activated by ascorbate and magnesium ions.
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.

Enzyme Numbers (IUBMB) 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 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

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
cytoskeleton 5
nucleus 5
cytosol 3

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 18775698
GO:0006974 cellular response to DNA damage stimulus IEA --
GO:0035511 oxidative DNA demethylation IDA 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

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

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Vitamin C Approved Nutra Target 531,531
Formaldehyde Approved, Vet_approved Pharma 93
Oxygen Approved, Vet_approved Pharma 0
Succinic acid Approved Nutra Full agonist, Agonist 0
2-Ketobutyric acid Experimental Pharma 0

(2) Additional Compounds for ALKBH2 Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Fe2+
  • Armco iron
  • Carbonyl iron
  • FE
  • Ferrovac e
  • Hematite
15438-31-0
Oxoglutaric acid
  • 2-Ketoglutarate
  • 2-Ketoglutaric acid
  • 2-Oxo-1,5-pentanedioate
  • 2-Oxo-1,5-pentanedioic acid
  • 2-Oxoglutarate
328-50-7
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

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

Primer Products

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 34 35
  • 99.62 (n)
cow
(Bos Taurus)
Mammalia ALKBH2 34 35
  • 84.36 (n)
dog
(Canis familiaris)
Mammalia ALKBH2 34 35
  • 83.01 (n)
rat
(Rattus norvegicus)
Mammalia Alkbh2 34
  • 79.78 (n)
mouse
(Mus musculus)
Mammalia Alkbh2 34 16 35
  • 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 34 35
  • 67.09 (n)
tropical clawed frog
(Silurana tropicalis)
Amphibia alkbh2 34
  • 60.24 (n)
Str.1974 34
zebrafish
(Danio rerio)
Actinopterygii alkbh2 34 35
  • 59.14 (n)
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)

Paralogs for ALKBH2 Gene

Paralogs for ALKBH2 Gene

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

Variants for ALKBH2 Gene

Sequence variations from dbSNP and Humsavar for ALKBH2 Gene

SNP ID Clin Chr 12 pos Sequence Context AA Info Type
rs1000132569 -- 109,091,841(+) CACCA(C/T)GCCTA intron-variant
rs1000485534 -- 109,093,490(+) ATCGG(C/T)CGCGT upstream-variant-2KB, utr-variant-5-prime
rs1001040899 -- 109,093,638(+) TCGAG(A/G)ATCAC upstream-variant-2KB
rs1001111881 -- 109,090,267(+) AGATG(-/C)CCCCC intron-variant
rs1001564522 -- 109,090,385(+) AATTT(A/C)AACCC 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)

Relevant External Links 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

Relevant External Links for ALKBH2

Genetic Association Database (GAD)
ALKBH2
Human Genome Epidemiology (HuGE) Navigator
ALKBH2
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
ALKBH2

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. Crystal structures of DNA/RNA repair enzymes AlkB and ABH2 bound to dsDNA. (PMID: 18432238) Yang C.G. … He C. (Nature 2008) 3 4 64
  2. AlkB homologue 2-mediated repair of ethenoadenine lesions in mammalian DNA. (PMID: 18519673) Ringvoll J. … Klungland A. (Cancer Res. 2008) 3 4 64
  3. Repair of methylation damage in DNA and RNA by mammalian AlkB homologues. (PMID: 16174769) Lee D.-H. … O'Connor T.R. (J. Biol. Chem. 2005) 3 4 64
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4 64
  5. Human and bacterial oxidative demethylases repair alkylation damage in both RNA and DNA. (PMID: 12594517) Aas P.A. … Krokan H.E. (Nature 2003) 3 4 64

Products for ALKBH2 Gene

Sources for ALKBH2 Gene

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