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    NEIL2 nei like DNA glycosylase 2 [ Homo sapiens (human) ]

    Gene ID: 252969, updated on 9-Dec-2024

    Summary

    Official Symbol
    NEIL2provided by HGNC
    Official Full Name
    nei like DNA glycosylase 2provided by HGNC
    Primary source
    HGNC:HGNC:18956
    See related
    Ensembl:ENSG00000154328 MIM:608933; AllianceGenome:HGNC:18956
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    NEH2; NEI2
    Summary
    This gene encodes a member of the Fpg/Nei family of DNA glycosylases. These glycosylases initiate the first step in base excision repair by cleaving oxidatively damaged bases and introducing a DNA strand break via their abasic site lyase activity. This enzyme is primarily associated with DNA repair during transcription and acts prefentially on cytosine-derived lesions, particularly 5-hydroxyuracil and 5-hydroxycytosine. It contains an N-terminal catalytic domain, a hinge region, and a C-terminal DNA-binding domain with helix-two-turn-helix and zinc finger motifs. This enzyme interacts with the X-ray cross complementing factor 1 scaffold protein as part of a multi-protein DNA repair complex. A pseudogene of this gene has been identified. [provided by RefSeq, Mar 2017]
    Expression
    Ubiquitous expression in testis (RPKM 14.3), brain (RPKM 9.4) and 24 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See NEIL2 in Genome Data Viewer
    Location:
    8p23.1
    Exon count:
    6
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 8 NC_000008.11 (11769710..11787345)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 8 NC_060932.1 (7952965..7970597, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (11627219..11644854)

    Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene GATA binding protein 4 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:11566565-11567490 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:11567491-11568414 Neighboring gene small nucleolar RNA, H/ACA box 99 Neighboring gene HNF4 motif-containing MPRA enhancer 121 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:11584607-11585590 Neighboring gene H3K27ac hESC enhancer GRCh37_chr8:11593264-11593764 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27031 Neighboring gene H3K27ac hESC enhancer GRCh37_chr8:11594517-11595018 Neighboring gene VISTA enhancer hs2205 Neighboring gene VISTA enhancer hs508 Neighboring gene long intergenic non-protein coding RNA 2905 Neighboring gene uncharacterized LOC124901888 Neighboring gene H3K27ac hESC enhancer GRCh37_chr8:11627369-11627869 Neighboring gene uncharacterized LOC105379243 Neighboring gene Sharpr-MPRA regulatory region 11637 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:11657524-11658167 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:11658297-11659039 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:11659040-11659781 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27032 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18940 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18941 Neighboring gene SUB1 pseudogene 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27033 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18942 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18943 Neighboring gene farnesyl-diphosphate farnesyltransferase 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27034 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27035

    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?

    Phenotypes

    EBI GWAS Catalog

    Description
    A genome-wide association study of behavioral disinhibition.
    EBI GWAS Catalog
    Duffy-null-associated low neutrophil counts influence HIV-1 susceptibility in high-risk South African black women.
    EBI GWAS Catalog

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • MGC2832, MGC4505, FLJ31644

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables DNA N-glycosylase activity TAS
    Traceable Author Statement
    more info
     
    enables class I DNA-(apurinic or apyrimidinic site) endonuclease activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables damaged DNA binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables microtubule binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables zinc ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    Process Evidence Code Pubs
    involved_in depyrimidination TAS
    Traceable Author Statement
    more info
     
    Component Evidence Code Pubs
    located_in cytoplasm IEA
    Inferred from Electronic Annotation
    more info
     
    located_in intracellular membrane-bounded organelle IDA
    Inferred from Direct Assay
    more info
     
    located_in mitotic spindle IEA
    Inferred from Electronic Annotation
    more info
     
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
     
    located_in nucleoplasm TAS
    Traceable Author Statement
    more info
     
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
     

    General protein information

    Preferred Names
    endonuclease 8-like 2
    Names
    DNA glycosylase/AP lyase Neil2
    DNA-(apurinic or apyrimidinic site) lyase Neil2
    nei endonuclease VIII-like 2
    nei homolog 2
    nei-like protein 2
    NP_001129218.1
    NP_001129219.1
    NP_001129220.1
    NP_001336368.1
    NP_001336369.1
    NP_001336370.1
    NP_001336371.1
    NP_659480.1

    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.

    Genomic

    1. NG_053043.1 RefSeqGene

      Range
      5048..22683
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001135746.3NP_001129218.1  endonuclease 8-like 2 isoform a

      See identical proteins and their annotated locations for NP_001129218.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1, 2, and 8 encode the same isoform (a).
      Source sequence(s)
      AB079070, AC069185, AK056206, DA207321, DB452586
      Consensus CDS
      CCDS5984.1
      UniProtKB/Swiss-Prot
      B4DFR7, Q7Z3Q7, Q8N842, Q8NG52, Q969S2
      Related
      ENSP00000394023.2, ENST00000436750.7
      Conserved Domains (2) summary
      cd08968
      Location:1185
      MeNeil2_N; N-terminal domain of metazoan Nei-like glycosylase 2 (NEIL2)
      cl26942
      Location:155320
      H2TH; Formamidopyrimidine-DNA glycosylase H2TH domain
    2. NM_001135747.3NP_001129219.1  endonuclease 8-like 2 isoform b

      See identical proteins and their annotated locations for NP_001129219.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR, lacks an alternate exon in the 5' coding region, and initiates translation at a downstream start codon, compared to variant 1. The encoded isoform (b) has a shorter N-terminus compared to isoform a. Variants 3 and 5-7 encode the same isoform (b).
      Source sequence(s)
      AB079070, AC069185, AK097389
      Consensus CDS
      CCDS47803.1
      UniProtKB/Swiss-Prot
      Q969S2
      Related
      ENSP00000384070.3, ENST00000403422.7
      Conserved Domains (2) summary
      cl03119
      Location:62124
      FpgNei_N; N-terminal domain of Fpg (formamidopyrimidine-DNA glycosylase, MutM)_Nei (endonuclease VIII) base-excision repair DNA glycosylases
      cl26942
      Location:94259
      H2TH; Formamidopyrimidine-DNA glycosylase H2TH domain
    3. NM_001135748.3NP_001129220.1  endonuclease 8-like 2 isoform c

      See identical proteins and their annotated locations for NP_001129220.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) differs in the 5' UTR and lacks an alternate exon compared to variant 1. The encoded isoform (c) has the same N- and C-termini but is shorter compared to isoform a.
      Source sequence(s)
      AB079070, AC069185, AK294224
      Consensus CDS
      CCDS47802.1
      UniProtKB/Swiss-Prot
      Q969S2
      Related
      ENSP00000435657.1, ENST00000528323.5
      Conserved Domains (2) summary
      pfam06831
      Location:104150
      H2TH; Formamidopyrimidine-DNA glycosylase H2TH domain
      cl03119
      Location:169
      FpgNei_N; N-terminal domain of Fpg (formamidopyrimidine-DNA glycosylase, MutM)_Nei (endonuclease VIII) base-excision repair DNA glycosylases
    4. NM_001349439.2NP_001336368.1  endonuclease 8-like 2 isoform b

      Status: REVIEWED

      Description
      Transcript Variant: This variant (5) differs in the 5' UTR and initiates translation at a downstream start codon, compared to variant 1. The encoded isoform (b) has a shorter N-terminus compared to isoform a. Variants 3 and 5-7 encode the same isoform (b).
      Source sequence(s)
      AC069185
      Consensus CDS
      CCDS47803.1
      Conserved Domains (2) summary
      cl03119
      Location:62124
      FpgNei_N; N-terminal domain of Fpg (formamidopyrimidine-DNA glycosylase, MutM)_Nei (endonuclease VIII) base-excision repair DNA glycosylases
      cl26942
      Location:94259
      H2TH; Formamidopyrimidine-DNA glycosylase H2TH domain
    5. NM_001349440.2NP_001336369.1  endonuclease 8-like 2 isoform b

      Status: REVIEWED

      Description
      Transcript Variant: This variant (6) differs in the 5' UTR and initiates translation at a downstream start codon, compared to variant 1. The encoded isoform (b) has a shorter N-terminus compared to isoform a. Variants 3 and 5-7 encode the same isoform (b).
      Source sequence(s)
      AC069185
      Consensus CDS
      CCDS47803.1
      Conserved Domains (2) summary
      cl03119
      Location:62124
      FpgNei_N; N-terminal domain of Fpg (formamidopyrimidine-DNA glycosylase, MutM)_Nei (endonuclease VIII) base-excision repair DNA glycosylases
      cl26942
      Location:94259
      H2TH; Formamidopyrimidine-DNA glycosylase H2TH domain
    6. NM_001349441.2NP_001336370.1  endonuclease 8-like 2 isoform b

      Status: REVIEWED

      Description
      Transcript Variant: This variant (7) lacks an alternate exon in the 5' UTR and initiates translation at a downstream start codon, compared to variant 1. The encoded isoform (b) has a shorter N-terminus compared to isoform a. Variants 3 and 5-7 encode the same isoform (b).
      Source sequence(s)
      AC069185
      Consensus CDS
      CCDS47803.1
      Conserved Domains (2) summary
      cl03119
      Location:62124
      FpgNei_N; N-terminal domain of Fpg (formamidopyrimidine-DNA glycosylase, MutM)_Nei (endonuclease VIII) base-excision repair DNA glycosylases
      cl26942
      Location:94259
      H2TH; Formamidopyrimidine-DNA glycosylase H2TH domain
    7. NM_001349442.2NP_001336371.1  endonuclease 8-like 2 isoform a

      Status: REVIEWED

      Description
      Transcript Variant: This variant (8) differs in the 5' UTR compared to variant 1. Variants 1, 2, and 8 encode the same isoform (a).
      Source sequence(s)
      AC069185
      Consensus CDS
      CCDS5984.1
      UniProtKB/Swiss-Prot
      B4DFR7, Q7Z3Q7, Q8N842, Q8NG52, Q969S2
      Related
      ENSP00000397538.2, ENST00000455213.6
      Conserved Domains (2) summary
      cd08968
      Location:1185
      MeNeil2_N; N-terminal domain of metazoan Nei-like glycosylase 2 (NEIL2)
      cl26942
      Location:155320
      H2TH; Formamidopyrimidine-DNA glycosylase H2TH domain
    8. NM_145043.4NP_659480.1  endonuclease 8-like 2 isoform a

      See identical proteins and their annotated locations for NP_659480.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (a). Variants 1, 2, and 8 encode the same isoform (a).
      Source sequence(s)
      AB079070, AC069185, AK056206, DA205315, DB452586
      Consensus CDS
      CCDS5984.1
      UniProtKB/Swiss-Prot
      B4DFR7, Q7Z3Q7, Q8N842, Q8NG52, Q969S2
      Related
      ENSP00000284503.6, ENST00000284503.7
      Conserved Domains (2) summary
      cd08968
      Location:1185
      MeNeil2_N; N-terminal domain of metazoan Nei-like glycosylase 2 (NEIL2)
      cl26942
      Location:155320
      H2TH; Formamidopyrimidine-DNA glycosylase H2TH domain

    RNA

    1. NR_146180.2 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (9) uses two alternate splice sites compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AC069185
    2. NR_146181.2 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (10) uses an alternate 5' and 3' exon structure, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AC069185
    3. NR_146182.2 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (11) uses an alternate splice site and lacks an alternate internal exon, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AC069185, DA037395

    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_000008.11 Reference GRCh38.p14 Primary Assembly

      Range
      11769710..11787345
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p14 PATCHES

    Genomic

    1. NW_018654717.1 Reference GRCh38.p14 PATCHES

      Range
      1560751..1578390 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060932.1 Alternate T2T-CHM13v2.0

      Range
      7952965..7970597 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)