DNA2 - DNA replication helicase/nuclease 2 Gene

Also Known as DNA2L; hDNA2

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 1763

About DNA2

Cytogenetic location: 10q21.3 Genomic coordinates (GRCh38): 10:68,414,064-68,472,521 (from NCBI)

This gene has 8 transcripts (splice variants), 172 orthologues, 10 paralogues and is associated with 4 phenotypes. Broad expression in lymph node (RPKM 2.7), testis (RPKM 1.9) and 24 other tissues.

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]

DNA2 Products (1)

mRNA	Protein	Name
NM_001080449.3	NP_001073918.2	DNA replication ATP-dependent helicase/nuclease DNA2

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables 5'-3' DNA helicase activity	IDA IDA: Inferred from direct assay	20019387	GOA
enables 5'-flap endonuclease activity	IDA IDA: Inferred from direct assay	16595799	GOA
enables ATP hydrolysis activity	IMP IMP: Inferred from mutant phenotype	31478350	GOA
enables DNA binding	IDA IDA: Inferred from direct assay	20019387	GOA
NOT enables DNA helicase activity	IDA IDA: Inferred from direct assay	16595799	GOA
enables DNA helicase activity	IDA IDA: Inferred from direct assay	16595800	GOA
enables nuclease activity	IDA IDA: Inferred from direct assay	21325134	GOA
enables nuclease activity	IMP IMP: Inferred from mutant phenotype	31478350	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	20019387	GOA
enables single-stranded DNA helicase activity	IDA IDA: Inferred from direct assay	16595799	GOA
enables site-specific endodeoxyribonuclease activity, specific for altered base	IDA IDA: Inferred from direct assay	18995831	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in DNA double-strand break processing	IDA IDA: Inferred from direct assay	21325134	GOA
involved in DNA replication	IMP IMP: Inferred from mutant phenotype	22570476	GOA
involved in DNA replication checkpoint signaling	IMP IMP: Inferred from mutant phenotype	22570476	GOA
involved in DNA replication, Okazaki fragment processing	IDA IDA: Inferred from direct assay	22570407	GOA
involved in DNA replication, removal of RNA primer	IDA IDA: Inferred from direct assay	18995831	GOA
involved in base-excision repair	IDA IDA: Inferred from direct assay	18995831	GOA
involved in base-excision repair	IMP IMP: Inferred from mutant phenotype	37055165	GOA
involved in mitochondrial DNA repair	IDA IDA: Inferred from direct assay	19487465	GOA
involved in mitochondrial DNA replication	IDA IDA: Inferred from direct assay	18995831	GOA
involved in positive regulation of DNA replication	IDA IDA: Inferred from direct assay	18995831	GOA

Cellular Component GO Annotation	Evidence	References	Source
part of gamma DNA polymerase complex	IDA IDA: Inferred from direct assay	18995831	GOA
located in mitochondrial nucleoid	IDA IDA: Inferred from direct assay	19487465	GOA
located in nucleus	IDA IDA: Inferred from direct assay	19487465	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

DNA2 Protein Structure

Dna2

AAA_11

AAA_12

0
200
400
600
800
1000
1060 a.a.

Protein Preferred Names	Protein Names
DNA replication ATP-dependent helicase/nuclease DNA2	DNA replication ATP-dependent helicase-like homolog

Related Diseases

Diseases	Alias
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 6	Mitochondrial Dna Deletion Syndrome With Progressive Myopathy PEOA6 Autosomal Dominant Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions 6 Dna2-Related Mitochondrial Dna Deletion Syndrome Mitochondrial Dna Deletion Syndrome With Limb-Girdle Weakness Mtdna Deletion Syndrome With Limb-Girdle Weakness Mtdna Deletion Syndrome With Progressive Myopathy Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant, 6 Progressive External Ophthalmoplegia, Autosomal Dominant 6 Autosomal Dominant Progressive External Ophthalmoplegia 6 Progressive External Ophthalmoplegia Autosomal Dominant 6 Ophthalmoplegia, External, Progressive, With Mitochondrial Dna Deletions, Autosomal Dominant, Type 6
Seckel Syndrome 8	SCKL8 Seckel Syndrome, Type 8
Isolated Growth Hormone Deficiency, Type Ia	Ighd Ia Primordial Dwarfism Isolated Growth Hormone Deficiency Type Ia Sexual Ateleiotic Dwarfism Pituitary Dwarfism I IGHD1A Illig-Type Growth Hormone Deficiency Growth Hormone Deficiency, Isolated, Type Ia Congenital Ighd Type Ia Congenital Isolated Gh Deficiency Type Ia Congenital Isolated Growth Hormone Deficiency Type Ia Pituitary Dwarfism 1 Growth Hormone Deficiency, Isolated, Autosomal Recessive Autosomal Recessive Isolated Growth Hormone Deficiency Isolated Growth Hormone Deficiency Type 1a Congenital Ighd Congenital Isolated Gh Deficiency Congenital Isolated Growth Hormone Deficiency Growth Hormone Deficiency, Isolated Autosomal Recessive Illig Type Growth Hormone Deficiency Non-Acquired Isolated Growth Hormone Deficiency Growth Hormone Deficiency, Isolated, 1a Growth Hormone Deficiency Isolated Autosomal Recessive Dwarfism, Primordial Dwarfism
Seckel Syndrome	Microcephalic Primordial Dwarfism Bird-Headed Dwarfism Harper'S Syndrome Virchow-Seckel Dwarfism Nanocephalic Dwarfism Sckl Seckel-Type Dwarfism
Autosomal Dominant Progressive External Ophthalmoplegia	Adpeo
Seckel Syndrome 2	SCKL2 Seckel-Type Dwarfism 2 Microcephalic Primordial Dwarfism 2 Bird-Headed Dwarfism 2 Seckel Syndrome, Type 2
Baller-Gerold Syndrome	BGS Craniosynostosis With Radial Defects Craniosynostosis-Radial Aplasia Syndrome Craniosynostosis Radial Aplasia Syndrome
Mitochondrial Dna Depletion Syndrome 7	Ohaha Syndrome Infantile Onset Spinocerebellar Ataxia Iosca Infantile-Onset Spinocerebellar Ataxia Spinocerebellar Ataxia 8 MTDPS7 Ophthalmoplegia, Hypotonia, Ataxia, Hypacusis, And Athetosis Ophthalmoplegia-Hypotonia-Ataxia-Hypoacusis-Athetosis Syndrome Sca8 Spinocerebellar Ataxia Infantile With Sensory Neuropathy Spinocerebellar Ataxia, Infantile-Onset Ophthalmoplegia, Hypotonia, Ataxia, Hypoacusis, And Athetosis Spinocerebellar Ataxia, Infantile, With Sensory Neuropathy Spinocerebellar Ataxia 8, Formerly Sca8, Formerly Iosca, Mitochondrial Dna Depletion Syndrome 7 Ophthalmoplegia - Hypotonia - Ataxia - Hypoacusis - Athetosis Mitochondrial Dna Depletion Syndrome, Hepatocerebrorenal Form Mtdna Depletion Syndrome, Hepatocerebrorenal Form Mitochondrial Dna Depletion Syndrome 7 Hepatocerebral Type Ophthalmoplegia Hypotonia Ataxia Hypoacusis And Athetosis Pure Spinocerebellar Ataxia Japanese Type Sca4 Pure Japanese Type Spinocerebellar Ataxia Infantile-Onset Mitochondrial Dna Depletion Syndrome , Type 7
Rothmund-Thomson Syndrome, Type 2	Rothmund-Thomson Syndrome Rts RTS2 Poikiloderma Of Rothmund-Thomson Rothmund-Thomson Syndrome Type 2 Congenital Poikiloderma Poikiloderma Congenitale Poikiloderma Atrophicans And Cataract Poikiloderma Congenitale Of Rothmund-Thomson Poikiloderma Of Rothmund-Thomson Type 2 Rothmund-Thomson Syndrome 2 Erythrokeratodermia Variabilis
Fanconi Anemia, Complementation Group J	Fanconi Anemia Complementation Group J FANCJ
Rapadilino Syndrome	Absent Thumbs, Dislocated Joints, Long Face With Narrow Palpebral Fissures, Long Slender Nose, Arched Palate Radial And Patellar Aplasia Radial And Patellar Hypoplasia RAPADILINOS
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis	SANDO Mitochondrial Recessive Ataxia Syndrome Spinocerebellar Ataxia With Epilepsy Epilepsy, Progressive Myoclonic 5 Epm5 Miras SCAE Sensory Ataxic Neuropathy With Mitochondrial Dna Deletions, Autosomal Recessive Autosomal Recessive Sensory Ataxic Neuropathy With Mitochondrial Dna Deletions Progressive Myoclonic Epilepsy Type 5 Pme Type 5 Progressive Myoclonus Epilepsy Type 5 Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome Recessive Mitochondrial Ataxia Syndrome Sensory Ataxic Neuropathy Dysarthria And Ophthalmoparesis Mitochondrial Spinocerebellar Ataxia-Epilepsy Syndrome Mscae Sensory Ataxic Neuropathy With Mitochondrial Dna Deletions Autosomal Recessive Progressive Myoclonic Epilepsy With Sensory Ataxic Neuropathy Epilepsy, Progressive Myoclonic, 5 Ataxia Neuropathy Spectrum
Kearns-Sayre Syndrome	Ophthalmoplegia Mitochondrial Cytopathy KSS Ophthalmoplegia, Pigmentary Degeneration Of Retina, And Cardiomyopathy Oculocraniosomatic Syndrome Chronic Progressive External Ophthalmoplegia With Myopathy Cpeo With Myopathy Total Ophthalmoplegia Ophthalmoplegia-Plus Syndrome Ophthalmoplegia, Progressive External, With Ragged-Red Fibers Cpeo With Ragged-Red Fibers Oculomotor Paralysis Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia Due To Duplication O Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia Due To Duplication Of Mitochondrial Dna Proximal Tubulopathy, Diabetes Mellitus And Cerebellar Ataxia Cpeo With Ragged Red Fibers Ophthalmoplegia Plus Syndrome Ophthalmoplegia, Progressive External, With Ragged Red Fibers Kearns-Sayre Mitochondrial Cytopathy Mitochondrial Myopathies
Chronic Progressive External Ophthalmoplegia	Progressive External Ophthalmoplegia Cpeo Peo Ophthalmoplegia, Chronic Progressive External Ophthalmoplegia, External, Progressive, Chronic Graefe Disease Peo - [Progressive External Ophthalmoplegia] Ophthalmoplegia Plus Syndrome
Mitochondrial Dna Depletion Syndrome	Mtdna Depletion Syndrome
Mitochondrial Dna Depletion Syndrome 4a	Alpers Syndrome Alpers-Huttenlocher Syndrome Alpers Progressive Infantile Poliodystrophy Alpers Diffuse Degeneration Of Cerebral Gray Matter With Hepatic Cirrhosis Alpers Disease Progressive Sclerosing Poliodystrophy Pndc Diffuse Cerebral Sclerosis Of Schilder MTDPS4A Neuronal Degeneration Of Childhood With Liver Disease, Progressive Alper'S Syndrome Alpers' Disease Or Gray-Matter Degeneration Diffuse Cerebral Degeneration In Infancy Infantile Poliodystrophy Poliodystrophia Cerebri Progressiva Progressive Cerebral Poliodystrophy Alpers' Disease Alpers Progressive Sclerosing Poliodystrophy Progressive Neuronal Degeneration Of Childhood With Liver Disease Ahs Mitochondrial Dna Depletion Syndrome 4a Alpers Type Neuronal Degeneration Of Childhood With Liver Disease Progressive
Xeroderma Pigmentosum, Variant Type	Xeroderma Pigmentosum XPV Xeroderma Pigmentosum Variant Type Xeroderma Pigmentosum With Normal Dna Repair Rates Photosensitivity With Defective Dna Synthesis Xp De Sanctis-Cacchione Syndrome Desanctis-Cacchione Syndrome Xeroderma Pigmentosa Xerodermic Idiocy Xeroderma Pigmentosum Variant Xp - [Xeroderma Pigmentosum] Atrophoderma Pigmentosum
Mitochondrial Myopathy	Mitochondrial Myopathies Mitochondrial Cytopathy Myopathies In Mitochondrial Disorders
Microcephaly	Microencephaly Microcephalus Microcephalic Nanocephaly Congenital Microcephaly Brain Hypoplasia Brain Nondevelopment Cephalic Hypoplasia Undeveloped Cerebrum Undeveloped Brain Micrencephalon Micrencephaly
Trichothiodystrophy	Ttd Amish Brittle Hair Syndrome Bids Syndrome Brittle Hair-Intellectual Impairment-Decreased Fertility-Short Stature Syndrome Ibids Pibids Trichothiodystrophy Syndromes
Aplastic Anemia	Aplastic Anemia, Susceptibility To Anemia Aplastic Idiopathic Aplastic Anemia Secondary Aplastic Anemia Idiopathic Bone Marrow Failure Aplastic Anemia Idiopathic AA Anemia, Aplastic Aplastic Anemia, Idiopathic Erythroid Aplasia Aa - [Aplastic Anaemia] Haematopoietic Aplasia Aleukia Haemorrhagica Anaemia Due To Decreased Red Cell Production Aplasia Bone Marrow Aplastic Bone Marrow Hypoplastic Anaemia Nos Myeloid Bone Marrow Aplasia Pancytopenia Panhaematopenia Hypoproliferative Anaemia Medullary Hypoplasia Red Blood Cells Hypoplastic Anaemia Panmyelophthisis Panhemocytopenia Refractive Hypoproliferative Anaemia Toxic Anaemia Toxic Aplastic Anaemia Aplastic Anaemia Due To Toxic Cause Idiopathic Aplastic Anaemia Nos
Fanconi Anemia, Complementation Group A	Fanconi Anemia Fanconi Pancytopenia Fanconi Anemia Complementation Group A FANCA Fa Fanconi Panmyelopathy Fanconi'S Anemia Fanconi Anaemia Fanconi'S Anaemia Fanconi Hypoplastic Anemia Estren-Dameshek Variant Of Fanconi Anemia Estren-Dameshek Variant Of Fanconi Pancytopenia Fanconi Anemia Estren-Dameshek Variant Fanconis Anemia
Hereditary Breast Ovarian Cancer Syndrome	Hereditary Breast And Ovarian Cancer Syndrome Brca1- And Brca2-Associated Hereditary Breast And Ovarian Cancer Breast And/Or Ovarian Cancer Breast And Ovarian Cancer Syndrome Hboc Syndrome Hereditary Breast And Ovarian Cancer Brca1- Brca2-Associated Hboc

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (26)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-107999	CADD522	Agonist	98.23%	Unkown
HY-128729	DNA2 inhibitor C5	Inhibitor	98.51%	Unkown
HY-124838	EG1		98.26%	Unkown
HY-W016009	2'-Deoxyadenosine-5'-monophosphate		99.60%	Unkown
HY-126861	2'-Deoxy-5-formylcytidine		99.85%	Unkown
HY-W039442	2′-Deoxy-2′-fluoroadenosine		99.71%	Unkown
HY-155339	Anticancer agent 168		99.55%	Unkown
HY-135009	2-Di-1-ASP		99.97%	Unkown
HY-W016009R	2'-Deoxyadenosine-5'-monophosphate (Standard)		99.15%	Unkown
HY-W105272	2′-Deoxyadenosine 5′-monophosphate disodium		99.31%	Unkown
HY-160839	SPB-PEG4-AAD		/	Unkown
HY-160840	SPB-AAD		/	Unkown
HY-W016009S	2'-Deoxyadenosine-5'-monophosphate-d12 dilithium		97.7%	Unkown
HY-W105272S	2′-Deoxyadenosine 5′-monophosphate-13C10,15N5 disodium		99.8%	Unkown
HY-RS03838	DNA2 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-128729R	DNA2 inhibitor C5 (Standard)	Inhibitor	97.58%	Unkown
HY-W013059S1	DMT-dA(bz) Phosphoramidite-15N5		/	Unkown
HY-W013068S1	DMT-dT Phosphoramidite-15N2		/	Unkown
HY-W016009S1	2'-Deoxyadenosine-5'-monophosphate-15N5,d12 dilithium		/	Unkown
HY-W016009S2	2'-Deoxyadenosine-5'-monophosphate-15N5 dilithium		/	Unkown
HY-W016009S3	2'-Deoxyadenosine-5'-monophosphate-13C10 dilithium		/	Unkown
HY-W016009S4	2'-Deoxyadenosine-5'-monophosphate-13C10,15N5 dilithium		/	Unkown
HY-RS19320	Dna2 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS25811	Dna2 Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-W013059S	DMT-dA(bz) Phosphoramidite-13C10,15N5		/	Unkown
HY-W013068S	DMT-dT Phosphoramidite-13C10,15N2		/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Bos taurus	DNA2	VGNC	VGNC:28118
Felis catus	DNA2	VGNC	VGNC:61536
Canis familiaris	DNA2	VGNC	VGNC:40008
Mus musculus	DNA2	MGD	MGI:2443732
Rattus norvegicus	DNA2	RGD	RGD:1306791
Others	DNA2	NCBI