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Gene : DNA2 Homo sapiens

Name  ? DNA replication helicase/nuclease 2 Cytological Location  10q21.3
Brief Description  DNA replication helicase/nuclease 2
Description  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]
  • synonyms:
  • DNA replication helicase 2 homolog (yeast),
  • D42046,
  • uc057tqx.1,
  • KIAA0083,
  • hDNA2,
  • OTTHUMG00000018352,
  • DNA2,
  • DNA2L,
  • DNA2L,
  • HGNC:2939,
  • NM_001080449,
  • DNA2 DNA replication helicase 2-like (yeast)
  • identifiers:
  • 1763,
  • ENSG00000138346,
  • DNA2

Genome feature

Region: gene ? Length: 58458  
Location: 10:68414064-68472521 reverse strand Cyto location: 10q21.3


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Function

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Gene --> GO terms.

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]

Genomics

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Gene --> Chromosomal location.

Gene --> GO terms.

Gene --> Overlapping genes.

Proteins

Gene --> Proteins.

SNPs

Gene Report --> GWAS hit

Disease

2 Diseases

Gene (Hum OR Rat) --> Mouse Allele (Phenotype)

Gene --> Alleles and Disease (clinVar data)

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]

Homology

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Interactions

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Expression

Gene(s) --> Significant SNPs (GTex data)

Gene Ontology

Gene --> GO terms.

 

Other

30614 SN Ps

5 Cross References

20 Data Sets

7 Homologues

0 Located Features

97 Rna Seq Results