DNA2 - DNA replication helicase/nuclease 2 Gene

Homo sapiens

Also known as DNA2L; hDNA2

Gene ID: 1763 | Gene type: protein coding

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

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

Bioactive Molecules (25)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-128729	DNA2 inhibitor C5	Inhibitor	98.51%	Unkown
HY-107999	CADD522	Agonist	98.23%	Unkown
HY-124838	EG1	Inhibitor	98.26%	Unkown
HY-126861	2'-Deoxy-5-formylcytidine		99.70%	Unkown
HY-W016009	2'-Deoxyadenosine-5'-monophosphate		99.60%	Unkown
HY-135009	2-Di-1-ASP		99.97%	Unkown
HY-155339	Anticancer agent 168	Inhibitor	97.44%	Unkown
HY-W105272	2′-Deoxyadenosine 5′-monophosphate disodium		99.68%	Unkown
HY-160839	SPB-PEG4-AAD		/	Unkown
HY-160840	SPB-AAD		/	Unkown
HY-RS03838	DNA2 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown
HY-W008848S	DMT-dG(ib) Phosphoramidite-13C10,15N5		/	Unkown
HY-W008848S1	DMT-dG(ib) Phosphoramidite-15N5		/	Unkown
HY-W008849S	DMT-dC(bz) Phosphoramidite-13C9,15N3		/	Unkown
HY-W013059S	DMT-dA(bz) Phosphoramidite-13C10,15N5		/	Unkown
HY-W013059S1	DMT-dA(bz) Phosphoramidite-15N5		/	Unkown
HY-W013068S	DMT-dT Phosphoramidite-13C10,15N2		/	Unkown
HY-W013068S1	DMT-dT Phosphoramidite-15N2		/	Unkown
HY-W016009R	2'-Deoxyadenosine-5'-monophosphate (Standard)		/	Unkown
HY-W016009S	2'-Deoxyadenosine-5'-monophosphate-d12 dilithium		/	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-W105272S	2′-Deoxyadenosine 5′-monophosphate-13C10,15N5 disodium		/	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

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