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DNA2 DNA replication helicase/nuclease 2 [ Homo sapiens (human) ]

Gene ID: 1763, updated on 1-Jun-2020

Summary

Official Symbol
DNA2provided by HGNC
Official Full Name
DNA replication helicase/nuclease 2provided by HGNC
Primary source
HGNC:HGNC:2939
See related
Ensembl:ENSG00000138346 MIM:601810
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
DNA2L; hDNA2
Summary
This gene encodes a member of the DNA2/NAM7 helicase family. The encoded protein is a conserved helicase/nuclease involved in the maintenance of mitochondrial and nuclear DNA stability. Mutations in this gene are associated with autosomal dominant progressive external ophthalmoplegia-6 (PEOA6) and Seckel syndrome 8. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Sep 2014]
Expression
Broad expression in lymph node (RPKM 2.7), testis (RPKM 1.9) and 24 other tissues See more
Orthologs

Genomic context

See DNA2 in Genome Data Viewer
Location:
10q21.3
Exon count:
22
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 10 NC_000010.11 (68414064..68472521, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (70173821..70231878, complement)

Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene phenazine biosynthesis like protein domain containing Neighboring gene Sharpr-MPRA regulatory region 82 Neighboring gene heterogeneous nuclear ribonucleoprotein H3 Neighboring gene RUN and FYVE domain containing 2 Neighboring gene ribosomal protein L26 pseudogene 29 Neighboring gene RNA, 5S ribosomal pseudogene 319 Neighboring gene solute carrier family 25 member 16 Neighboring gene ribosomal protein L26 pseudogene 27 Neighboring gene Sharpr-MPRA regulatory region 5966

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

Homology

Clone Names

  • FLJ10063, KIAA0083, MGC133297

Gene Ontology Provided by GOA

Function Evidence Code Pubs
4 iron, 4 sulfur cluster binding IEA
Inferred from Electronic Annotation
more info
 
5'-3' DNA helicase activity IDA
Inferred from Direct Assay
more info
PubMed 
5'-flap endonuclease activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
5'-flap endonuclease activity IDA
Inferred from Direct Assay
more info
PubMed 
ATP binding IEA
Inferred from Electronic Annotation
more info
 
ATPase activity TAS
Traceable Author Statement
more info
PubMed 
DNA binding IDA
Inferred from Direct Assay
more info
PubMed 
DNA helicase activity IDA
Inferred from Direct Assay
more info
PubMed 
NOT DNA helicase activity IDA
Inferred from Direct Assay
more info
PubMed 
RNA binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
helicase activity TAS
Traceable Author Statement
more info
PubMed 
metal ion binding IEA
Inferred from Electronic Annotation
more info
 
nuclease activity IDA
Inferred from Direct Assay
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
single-stranded DNA-dependent ATP-dependent DNA helicase activity IDA
Inferred from Direct Assay
more info
PubMed 
site-specific endodeoxyribonuclease activity, specific for altered base IDA
Inferred from Direct Assay
more info
PubMed 
Process Evidence Code Pubs
DNA double-strand break processing IDA
Inferred from Direct Assay
more info
PubMed 
DNA duplex unwinding IEA
Inferred from Electronic Annotation
more info
 
DNA replication IMP
Inferred from Mutant Phenotype
more info
PubMed 
DNA replication TAS
Traceable Author Statement
more info
 
DNA replication checkpoint IMP
Inferred from Mutant Phenotype
more info
PubMed 
DNA replication, Okazaki fragment processing IDA
Inferred from Direct Assay
more info
PubMed 
DNA replication, removal of RNA primer IDA
Inferred from Direct Assay
more info
PubMed 
G-quadruplex DNA unwinding TAS
Traceable Author Statement
more info
PubMed 
base-excision repair IDA
Inferred from Direct Assay
more info
PubMed 
mitochondrial DNA repair IDA
Inferred from Direct Assay
more info
PubMed 
mitochondrial DNA replication IDA
Inferred from Direct Assay
more info
PubMed 
mitotic telomere maintenance via semi-conservative replication ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
nucleic acid phosphodiester bond hydrolysis ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
positive regulation of DNA replication IDA
Inferred from Direct Assay
more info
PubMed 
regulation of signal transduction by p53 class mediator TAS
Traceable Author Statement
more info
 
replication fork reversal IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
t-circle formation TAS
Traceable Author Statement
more info
PubMed 
telomere maintenance ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
telomere maintenance via semi-conservative replication TAS
Traceable Author Statement
more info
 
Component Evidence Code Pubs
cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
colocalizes_with gamma DNA polymerase complex IDA
Inferred from Direct Assay
more info
PubMed 
mitochondrial nucleoid IDA
Inferred from Direct Assay
more info
PubMed 
mitochondrion IDA
Inferred from Direct Assay
more info
 
nuclear chromosome, telomeric region IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
nuclear chromosome, telomeric region ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
nucleoplasm IDA
Inferred from Direct Assay
more info
 
nucleoplasm TAS
Traceable Author Statement
more info
 
nucleus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
nucleus IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
DNA replication ATP-dependent helicase/nuclease DNA2
Names
DNA replication ATP-dependent helicase-like homolog
DNA replication helicase 2 homolog
DNA2 DNA replication helicase 2-like
DNA2-like helicase
NP_001073918.2
XP_006717743.1
XP_011537719.1
XP_016871288.1

NCBI Reference Sequences (RefSeq)

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_034247.1 RefSeqGene

    Range
    5001..62910
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001080449.3NP_001073918.2  DNA replication ATP-dependent helicase/nuclease DNA2

    See identical proteins and their annotated locations for NP_001073918.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the functional protein.
    Source sequence(s)
    BC073945, D42046, DC404138
    Consensus CDS
    CCDS44415.2
    UniProtKB/Swiss-Prot
    P51530
    Related
    ENSP00000351185.3, ENST00000358410.8
    Conserved Domains (5) summary
    TIGR00376
    Location:4711032
    TIGR00376; DNA helicase, putative
    pfam08696
    Location:71282
    Dna2; DNA replication factor Dna2
    pfam13087
    Location:8051017
    AAA_12; AAA domain
    cl00641
    Location:261397
    Cas4_I-A_I-B_I-C_I-D_II-B; CRISPR/Cas system-associated protein Cas4
    cl21455
    Location:625875
    P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases

RNA

  1. NR_102264.1 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs at the 5' end and uses an alternate internal splice site, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most supported translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    BC063664, BC111740
    Related
    ENST00000551118.6

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000010.11 Reference GRCh38.p13 Primary Assembly

    Range
    68414064..68472521 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006717680.3XP_006717743.1  DNA replication ATP-dependent helicase/nuclease DNA2 isoform X1

    Conserved Domains (5) summary
    TIGR00376
    Location:5011062
    TIGR00376; DNA helicase, putative
    pfam08696
    Location:101312
    Dna2; DNA replication factor Dna2
    pfam13087
    Location:8351047
    AAA_12; AAA domain
    cl00641
    Location:291427
    Cas4_I-A_I-B_I-C_I-D_II-B; CRISPR/Cas system-associated protein Cas4
    cl21455
    Location:655905
    P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases
  2. XM_017015799.1XP_016871288.1  DNA replication ATP-dependent helicase/nuclease DNA2 isoform X2

  3. XM_011539417.1XP_011537719.1  DNA replication ATP-dependent helicase/nuclease DNA2 isoform X3

    Conserved Domains (3) summary
    TIGR00376
    Location:111672
    TIGR00376; DNA helicase, putative
    pfam13087
    Location:445657
    AAA_12; AAA domain
    cl21455
    Location:265515
    P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases
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