Protein family
Protein sequence
Protein function
Publications
Catalytic activity
EC number
EC number description
3.1.-.-
Hydrolases;
Acting on ester bonds;
;
3.6.4.12
Hydrolases;
Acting on acid anhydrides;
Acting on acid anhydrides to facilitate cellular and subcellular movement;
DNA helicase.
| PDB | Resolution (Å) | PDB name |
|---|---|---|
| 5EAY | 1.55 | Crystal structure of a Dna2 peptide in complex with Rpa 70N |
GO ontology
|
GO term | GO description |
|---|---|---|
| Biological Process | GO:0000729 | DNA double-strand break processing |
| Biological Process | GO:0006260 | DNA replication |
| Biological Process | GO:0000076 | DNA replication checkpoint signaling |
| Biological Process | GO:0033567 | DNA replication, Okazaki fragment processing |
| Biological Process | GO:0043137 | DNA replication, removal of RNA primer |
| Biological Process | GO:0044806 | G-quadruplex DNA unwinding |
| Biological Process | GO:0006284 | base-excision repair |
| Biological Process | GO:0043504 | mitochondrial DNA repair |
| Biological Process | GO:0006264 | mitochondrial DNA replication |
| Biological Process | GO:1902990 | mitotic telomere maintenance via semi-conservative replication |
| Biological Process | GO:0090305 | nucleic acid phosphodiester bond hydrolysis |
| Biological Process | GO:0045740 | positive regulation of DNA replication |
| Biological Process | GO:0071932 | replication fork reversal |
| Biological Process | GO:0090656 | t-circle formation |
| Biological Process | GO:0000723 | telomere maintenance |
| Biological Process | GO:0032201 | telomere maintenance via semi-conservative replication |
| Molecular Function | GO:0051539 | 4 iron, 4 sulfur cluster binding |
| Molecular Function | GO:0043139 | 5'-3' DNA helicase activity |
| Molecular Function | GO:0017108 | 5'-flap endonuclease activity |
| Molecular Function | GO:0005524 | ATP binding |
| Molecular Function | GO:0016887 | ATP hydrolysis activity |
| Molecular Function | GO:0003677 | DNA binding |
| Molecular Function | GO:0003678 | DNA helicase activity |
| Molecular Function | GO:0003723 | RNA binding |
| Molecular Function | GO:0004386 | helicase activity |
| Molecular Function | GO:0046872 | metal ion binding |
| Molecular Function | GO:0004518 | nuclease activity |
| Molecular Function | GO:0017116 | single-stranded DNA helicase activity |
| Molecular Function | GO:0016890 | site-specific endodeoxyribonuclease activity, specific for altered base |
| Cellular Component | GO:0000781 | chromosome, telomeric region |
| Cellular Component | GO:0005737 | cytoplasm |
| Cellular Component | GO:0042645 | mitochondrial nucleoid |
| Cellular Component | GO:0005739 | mitochondrion |
| Cellular Component | GO:0005654 | nucleoplasm |
| Cellular Component | GO:0005634 | nucleus |
| InterPro
|
InterPro name |
|---|---|
| IPR011604 | PD-(D/E)XK endonuclease-like domain superfamily |
| IPR014808 | DNA replication factor Dna2, N-terminal |
| IPR026851 | DNA replication ATP-dependent helicase/nuclease Dna2/JHS1, DEXXQ-box helicase domain |
| IPR027417 | P-loop containing nucleoside triphosphate hydrolase |
| IPR041677 | DNA2/NAM7 helicase, helicase domain |
| IPR041679 | DNA2/NAM7 helicase-like, C-terminal |
| IPR045055 | DNA2/NAM7-like helicase |
| IPR047187 | Upf1-like, C-terminal helicase domain |
| Pfam
|
Pfam name |
|---|---|
| PF08696 | DNA replication factor Dna2 |
| PF13086 | AAA domain |
| PF13087 | AAA domain |
| Reactome
|
Reactome Name | Node type
|
Reactome Root | Reactome Root Name |
|---|---|---|---|---|
| R-HSA-174437 | Removal of the Flap Intermediate from the C-strand | Leaf | R-HSA-1640170 | Cell Cycle |
| R-HSA-5685938 | HDR through Single Strand Annealing (SSA) | Leaf | R-HSA-73894 | DNA Repair |
| R-HSA-5685942 | HDR through Homologous Recombination (HRR) | Internal node | R-HSA-73894 | DNA Repair |
| R-HSA-5693554 | Resolution of D-loop Structures through Synthesis-Dependent Strand Annealing (SDSA) | Leaf | R-HSA-73894 | DNA Repair |
| R-HSA-5693568 | Resolution of D-loop Structures through Holliday Junction Intermediates | Leaf | R-HSA-73894 | DNA Repair |
| R-HSA-5693579 | Homologous DNA Pairing and Strand Exchange | Internal node | R-HSA-73894 | DNA Repair |
| R-HSA-5693607 | Processing of DNA double-strand break ends | Leaf | R-HSA-73894 | DNA Repair |
| R-HSA-5693616 | Presynaptic phase of homologous DNA pairing and strand exchange | Leaf | R-HSA-73894 | DNA Repair |
| R-HSA-6804756 | Regulation of TP53 Activity through Phosphorylation | Leaf | R-HSA-74160 | Gene expression (Transcription) |
| R-HSA-69166 | Removal of the Flap Intermediate | Leaf | R-HSA-69306 | DNA Replication |
| R-HSA-69473 | G2/M DNA damage checkpoint | Internal node | R-HSA-1640170 | Cell Cycle |
| R-HSA-9701192 | Defective homologous recombination repair (HRR) due to BRCA1 loss of function | Leaf | R-HSA-1643685 | Disease |
| R-HSA-9704331 | Defective HDR through Homologous Recombination Repair (HRR) due to PALB2 loss of BRCA1 binding function | Leaf | R-HSA-1643685 | Disease |
| R-HSA-9704646 | Defective HDR through Homologous Recombination Repair (HRR) due to PALB2 loss of BRCA2/RAD51/RAD51C binding function | Leaf | R-HSA-1643685 | Disease |
| R-HSA-9709570 | Impaired BRCA2 binding to RAD51 | Leaf | R-HSA-1643685 | Disease |
| R-HSA-9709603 | Impaired BRCA2 binding to PALB2 | Leaf | R-HSA-1643685 | Disease |
| HPO ID
|
HPO name |
|---|---|
| HP:0000006 | Autosomal dominant inheritance |
| HP:0000007 | Autosomal recessive inheritance |
| HP:0000086 | Ectopic kidney |
| HP:0000252 | Microcephaly |
| HP:0000347 | Micrognathia |
| HP:0000444 | Convex nasal ridge |
| HP:0000508 | Ptosis |
| HP:0000590 | Progressive external ophthalmoplegia |
| HP:0000597 | Ophthalmoparesis |
| HP:0000716 | Depression |
| HP:0001249 | Intellectual disability |
| HP:0001263 | Global developmental delay |
| HP:0001288 | Gait disturbance |
| HP:0001290 | Generalized hypotonia |
| HP:0001324 | Muscle weakness |
| HP:0001533 | Slender build |
| HP:0001558 | Decreased fetal movement |
| HP:0001655 | Patent foramen ovale |
| HP:0002094 | Dyspnea |
| HP:0002176 | Spinal cord compression |
| HP:0002355 | Difficulty walking |
| HP:0002527 | Falls |
| HP:0002751 | Kyphoscoliosis |
| HP:0002828 | Multiple joint contractures |
| HP:0002870 | Obstructive sleep apnea |
| HP:0002875 | Exertional dyspnea |
| HP:0003198 | Myopathy |
| HP:0003236 | Elevated circulating creatine kinase concentration |
| HP:0003307 | Hyperlordosis |
| HP:0003325 | Limb-girdle muscle weakness |
| HP:0003326 | Myalgia |
| HP:0003391 | Gowers sign |
| HP:0003394 | Muscle spasm |
| HP:0003546 | Exercise intolerance |
| HP:0003547 | Shoulder girdle muscle weakness |
| HP:0003551 | Difficulty climbing stairs |
| HP:0003577 | Congenital onset |
| HP:0003581 | Adult onset |
| HP:0003677 | Slowly progressive |
| HP:0003689 | Multiple mitochondrial DNA deletions |
| HP:0003700 | Generalized amyotrophy |
| HP:0003737 | Mitochondrial myopathy |
| HP:0003749 | Pelvic girdle muscle weakness |
| HP:0004322 | Short stature |
| HP:0004673 | Decreased facial expression |
| HP:0007970 | Congenital ptosis |
| HP:0008331 | Elevated creatine kinase after exercise |
| HP:0011462 | Young adult onset |
| HP:0040013 | Decreased mitochondrial number |
| Tissue
|
Cell type
|
Expression level | Reliability |
|---|---|---|---|
| adrenal gland | glandular cells | Medium | Approved |
| appendix | glandular cells | Medium | Approved |
| appendix | lymphoid tissue | Low | Approved |
| bone marrow | hematopoietic cells | High | Approved |
| breast | glandular cells | Medium | Approved |
| breast | myoepithelial cells | Medium | Approved |
| bronchus | respiratory epithelial cells | Medium | Approved |
| caudate | glial cells | Medium | Approved |
| caudate | neuronal cells | Medium | Approved |
| cerebellum | Purkinje cells | Medium | Approved |
| cerebellum | cells in granular layer | Medium | Approved |
| cerebellum | cells in molecular layer | Low | Approved |
| cerebral cortex | glial cells | Medium | Approved |
| cerebral cortex | neuronal cells | Medium | Approved |
| cerebral cortex | neuropil | Medium | Approved |
| cervix | glandular cells | Medium | Approved |
| cervix | squamous epithelial cells | Low | Approved |
| colon | endothelial cells | Medium | Approved |
| colon | glandular cells | Medium | Approved |
| colon | peripheral nerve/ganglion | Medium | Approved |
| duodenum | glandular cells | Medium | Approved |
| endometrium 1 | cells in endometrial stroma | Medium | Approved |
| endometrium 1 | glandular cells | Medium | Approved |
| endometrium 2 | glandular cells | Medium | Approved |
| esophagus | squamous epithelial cells | Medium | Approved |
| fallopian tube | glandular cells | Medium | Approved |
| gallbladder | glandular cells | Medium | Approved |
| heart muscle | cardiomyocytes | Medium | Approved |
| hippocampus | glial cells | Low | Approved |
| hippocampus | neuronal cells | Medium | Approved |
| kidney | cells in glomeruli | Low | Approved |
| kidney | cells in tubules | Medium | Approved |
| liver | cholangiocytes | Medium | Approved |
| liver | hepatocytes | Medium | Approved |
| lung | macrophages | Medium | Approved |
| lymph node | germinal center cells | Medium | Approved |
| lymph node | non-germinal center cells | High | Approved |
| oral mucosa | squamous epithelial cells | Medium | Approved |
| ovary | follicle cells | Medium | Approved |
| pancreas | exocrine glandular cells | Medium | Approved |
| pancreas | pancreatic endocrine cells | Low | Approved |
| parathyroid gland | glandular cells | Medium | Approved |
| placenta | trophoblastic cells | Medium | Approved |
| prostate | glandular cells | Medium | Approved |
| rectum | glandular cells | Medium | Approved |
| salivary gland | glandular cells | Medium | Approved |
| seminal vesicle | glandular cells | Medium | Approved |
| skeletal muscle | myocytes | Medium | Approved |
| skin 1 | fibroblasts | Medium | Approved |
| skin 1 | keratinocytes | Low | Approved |
| skin 1 | melanocytes | Medium | Approved |
| skin 2 | epidermal cells | Medium | Approved |
| small intestine | glandular cells | Medium | Approved |
| smooth muscle | smooth muscle cells | Medium | Approved |
| soft tissue 1 | fibroblasts | Medium | Approved |
| soft tissue 2 | fibroblasts | Medium | Approved |
| spleen | cells in red pulp | Low | Approved |
| spleen | cells in white pulp | Medium | Approved |
| stomach 1 | glandular cells | Medium | Approved |
| stomach 2 | glandular cells | Medium | Approved |
| testis | Leydig cells | Medium | Approved |
| testis | cells in seminiferous ducts | Medium | Approved |
| thyroid gland | glandular cells | Medium | Approved |
| tonsil | germinal center cells | High | Approved |
| tonsil | non-germinal center cells | Medium | Approved |
| tonsil | squamous epithelial cells | Medium | Approved |
| urinary bladder | urothelial cells | Medium | Approved |
| vagina | squamous epithelial cells | Low | Approved |
| Disease name | MONDO ID
|
ICD10
|
ICD10 chapter
|
OMIM
|
Orphanet
|
|---|---|---|---|---|---|
| mitochondrial dna deletion syndrome with progressive myopathy | MONDO:0014062 | G71 | chapter6, Diseases of the nervous system | OMIM:615156 | Orphanet:352470 |
| seckel syndrome 8 | MONDO:0014350 | Q87 | chapter17, Congenital malformations, deformations and chromosomal abnormalities | OMIM:615807 |