U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination
    • Showing Current items.

    ALKBH2 alkB homolog 2, alpha-ketoglutarate dependent dioxygenase [ Homo sapiens (human) ]

    Gene ID: 121642, updated on 10-Dec-2024

    Summary

    Official Symbol
    ALKBH2provided by HGNC
    Official Full Name
    alkB homolog 2, alpha-ketoglutarate dependent dioxygenaseprovided by HGNC
    Primary source
    HGNC:HGNC:32487
    See related
    Ensembl:ENSG00000189046 MIM:610602; AllianceGenome:HGNC:32487
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    ABH2
    Summary
    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]
    Expression
    Ubiquitous expression in ovary (RPKM 6.9), endometrium (RPKM 5.8) and 25 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See ALKBH2 in Genome Data Viewer
    Location:
    12q24.11
    Exon count:
    4
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (109088189..109093472, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (109063001..109068284, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (109525994..109531277, complement)

    Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene ubiquitin specific peptidase 30 Neighboring gene H3K27ac hESC enhancer GRCh37_chr12:109490575-109491074 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6983 Neighboring gene USP30 antisense RNA 1 Neighboring gene RNA, 5S ribosomal pseudogene 372 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4838 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:109548634-109549184 Neighboring gene uncharacterized LOC105369974 Neighboring gene uracil DNA glycosylase Neighboring gene acetyl-CoA carboxylase beta

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • FLJ99103, MGC90512

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables broad specificity oxidative DNA demethylase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables broad specificity oxidative DNA demethylase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables cytosine C-5 DNA demethylase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables cytosine C-5 DNA demethylase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables ferrous iron binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables ferrous iron binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables rDNA binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in DNA alkylation repair IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in DNA alkylation repair IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Component Evidence Code Pubs
    located_in nucleolus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in nucleoplasm TAS
    Traceable Author Statement
    more info
     
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 

    General protein information

    Preferred Names
    DNA oxidative demethylase ALKBH2
    Names
    2OG-Fe(II) oxy DC1
    alkB, alkylation repair homolog 2
    alkylated DNA repair protein alkB homolog 2
    alpha-ketoglutarate-dependent dioxygenase alkB homolog 2
    oxy DC1
    NP_001001655.1
    NP_001138846.1
    NP_001138847.1
    NP_001192108.1
    NP_001192109.1
    XP_005253892.1
    XP_005253893.1
    XP_047284265.1
    XP_054227093.1
    XP_054227094.1
    XP_054227095.1

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001001655.3NP_001001655.1  DNA oxidative demethylase ALKBH2 isoform 1

      See identical proteins and their annotated locations for NP_001001655.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1-3 encode the same protein.
      Source sequence(s)
      AI278638, BC070489, BM785502
      Consensus CDS
      CCDS31897.1
      UniProtKB/Swiss-Prot
      A4PET2, Q5XLE3, Q6NS38
      Related
      ENSP00000343021.3, ENST00000343075.7
      Conserved Domains (1) summary
      pfam13532
      Location:72254
      2OG-FeII_Oxy_2; 2OG-Fe(II) oxygenase superfamily
    2. NM_001145374.2NP_001138846.1  DNA oxidative demethylase ALKBH2 isoform 1

      See identical proteins and their annotated locations for NP_001138846.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longest transcript. Variants 1-3 encode the same protein.
      Source sequence(s)
      AC011596, AI278638, BM820131, DA182735
      Consensus CDS
      CCDS31897.1
      UniProtKB/Swiss-Prot
      A4PET2, Q5XLE3, Q6NS38
      Related
      ENSP00000398181.1, ENST00000429722.3
      Conserved Domains (1) summary
      pfam13532
      Location:72254
      2OG-FeII_Oxy_2; 2OG-Fe(II) oxygenase superfamily
    3. NM_001145375.2NP_001138847.1  DNA oxidative demethylase ALKBH2 isoform 1

      See identical proteins and their annotated locations for NP_001138847.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR compared to variant 1. Variants 1-3 encode the same protein.
      Source sequence(s)
      AC011596, AI278638, BM785502, BM790974
      Consensus CDS
      CCDS31897.1
      UniProtKB/Swiss-Prot
      A4PET2, Q5XLE3, Q6NS38
      Conserved Domains (1) summary
      pfam13532
      Location:72254
      2OG-FeII_Oxy_2; 2OG-Fe(II) oxygenase superfamily
    4. NM_001205179.2NP_001192108.1  DNA oxidative demethylase ALKBH2 isoform 2

      See identical proteins and their annotated locations for NP_001192108.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (4) differs in the 5' UTR and lacks a coding exon compared to variant 1. The resulting protein (isoform 2) is shorter but has the same N- and C-termini compared to isoform 1. Variants 4 and 5 encode the same protein.
      Source sequence(s)
      AB277859, AC011596, AI278638, CN421655
      Consensus CDS
      CCDS55883.1
      UniProtKB/Swiss-Prot
      Q6NS38
      Related
      ENSP00000478765.1, ENST00000619381.4
    5. NM_001205180.2NP_001192109.1  DNA oxidative demethylase ALKBH2 isoform 2

      See identical proteins and their annotated locations for NP_001192109.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (5) lacks a coding exon compared to variant 1. The resulting protein (isoform 2) is shorter but has the same N- and C-termini compared to isoform 1. Variants 4 and 5 encode the same protein.
      Source sequence(s)
      AB277859, AI278638, BM785502
      Consensus CDS
      CCDS55883.1
      UniProtKB/Swiss-Prot
      Q6NS38

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000012.12 Reference GRCh38.p14 Primary Assembly

      Range
      109088189..109093472 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047428309.1XP_047284265.1  DNA oxidative demethylase ALKBH2 isoform X2

      Related
      ENSP00000399820.2, ENST00000440112.2
    2. XM_005253835.6XP_005253892.1  DNA oxidative demethylase ALKBH2 isoform X1

      See identical proteins and their annotated locations for XP_005253892.1

      UniProtKB/Swiss-Prot
      A4PET2, Q5XLE3, Q6NS38
      Conserved Domains (1) summary
      pfam13532
      Location:72254
      2OG-FeII_Oxy_2; 2OG-Fe(II) oxygenase superfamily
    3. XM_005253836.2XP_005253893.1  DNA oxidative demethylase ALKBH2 isoform X2

      See identical proteins and their annotated locations for XP_005253893.1

      UniProtKB/Swiss-Prot
      Q6NS38

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060936.1 Alternate T2T-CHM13v2.0

      Range
      109063001..109068284 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054371120.1XP_054227095.1  DNA oxidative demethylase ALKBH2 isoform X2

    2. XM_054371118.1XP_054227093.1  DNA oxidative demethylase ALKBH2 isoform X1

      UniProtKB/Swiss-Prot
      A4PET2, Q5XLE3, Q6NS38
    3. XM_054371119.1XP_054227094.1  DNA oxidative demethylase ALKBH2 isoform X2