Dna2 MGI Mouse Gene Detail - MGI:2443732 - DNA replication helicase/nuclease 2

Symbol

Dna2
Name

DNA replication helicase/nuclease 2
Synonyms

Dna2l, E130315B21Rik, mKIAA0083

Feature Type

protein coding gene
IDs

MGI:2443732
NCBI Gene: 327762
Alliance

gene page
Transcription Start Sites

1 TSS

Sequence Map

Chr10:62782805-62809964 bp, + strand
From Ensembl annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 10, 32.51 cM
Mapping Data

2 experiments

SNPs within 2kb

1072 from dbSNP Build 142
Strain Annotations

18

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_2443732	protein coding gene	Chr10:62782762-62809967 (+)
129S1/SvImJ	MGP_129S1SvImJ_G0017308	protein coding gene	Chr10:62431488-62461811 (+)
A/J	MGP_AJ_G0017286	protein coding gene	Chr10:60498668-60525666 (+)
AKR/J	MGP_AKRJ_G0017246	protein coding gene	Chr10:62086963-62120319 (+)
BALB/cJ	MGP_BALBcJ_G0017246	protein coding gene	Chr10:60607043-60634131 (+)
C3H/HeJ	MGP_C3HHeJ_G0017069	protein coding gene	Chr10:62008996-62037363 (+)
C57BL/6NJ	MGP_C57BL6NJ_G0017704	protein coding gene	Chr10:64669346-64699079 (+)
CAROLI/EiJ	MGP_CAROLIEiJ_G0015394	protein coding gene	Chr10:57442167-57467067 (+)
CAST/EiJ	MGP_CASTEiJ_G0016640	protein coding gene	Chr10:62059307-62088984 (+)
CBA/J	MGP_CBAJ_G0017041	protein coding gene	Chr10:67125388-67156927 (+)
DBA/2J	MGP_DBA2J_G0017146	protein coding gene	Chr10:59770777-59798384 (+)
FVB/NJ	MGP_FVBNJ_G0017140	protein coding gene	Chr10:59039438-59066985 (+)
LP/J	MGP_LPJ_G0017220	protein coding gene	Chr10:62801020-62831966 (+)
NOD/ShiLtJ	MGP_NODShiLtJ_G0017168	protein coding gene	Chr10:69292604-69323495 (+)
NZO/HlLtJ	MGP_NZOHlLtJ_G0017742	protein coding gene	Chr10:61931975-61961192 (+)
PWK/PhJ	MGP_PWKPhJ_G0016423	protein coding gene	Chr10:59649766-59678894 (+)
SPRET/EiJ	MGP_SPRETEiJ_G0016205	protein coding gene	Chr10:61283584-61313035 (+)
WSB/EiJ	MGP_WSBEiJ_G0016704	protein coding gene	Chr10:61881837-61913435 (+)

Human Ortholog

DNA2, DNA replication helicase/nuclease 2

Vertebrate Orthologs

3

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

DNA2, DNA replication helicase/nuclease 2
Synonyms

DNA2L, hDNA2, RTS4
Links

HGNC:2939

NCBI Gene ID: 1763

neXtProt AC: NX_P51530

UniProt: P51530
Chr Location

10q21.3; chr10:68414064-68472521 (-) GRCh38

MGI Vertebrate Homology

Dna2 stringent orthology
1 human;1 mouse;1 rat;1 zebrafish
HCOP

vertebrate homology predictions: DNA2
Gene Tree

Dna2

Diseases

4 with human DNA2 associations

				Human Disease	Mouse Models
				autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 6 IDs autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 6 DOID:0111519 OMIM:615156 ORDO:352470
				isolated growth hormone deficiency type IA IDs isolated growth hormone deficiency type IA DOID:0060873 ICD10CM:E23.0 OMIM:262400 ORDO:231662
				mitochondrial myopathy IDs mitochondrial myopathy DOID:699 MESH:D017240 NCI:C101328 OMIM:251900 UMLS_CUI:C0162670
				Seckel syndrome 8 IDs Seckel syndrome 8 DOID:0070009 OMIM:615807

Click on a disease name to see all genes associated with that disease.

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Phenotype Summary

10 phenotypes from 1 allele in 1 genetic background
13 phenotype references

Phenotype Overview

Blue squares indicate phenotypes directly attributed to mutations/alleles of this gene.

adipose tissue	behavior/neurological	cardiovascular system	cellular	craniofacial	digestive/alimentary system	embryo	endocrine/exocrine glands	growth/size/body	hearing/vestibular/ear	hematopoietic system	homeostasis/metabolism	integument	immune system	limbs/digits/tail	liver/biliary system	mortality/aging	muscle	nervous system	pigmentation	renal/urinary system	reproductive system	respiratory system	skeleton	taste/olfaction	neoplasm	vision/eye

Click cells to view annotations.

All Mutations and Alleles

13
Chemically induced (other)

1
Endonuclease-mediated

1
Gene trapped

7
Radiation induced

1
Targeted

3
Genomic Mutations

2 involving Dna2
Incidental Mutations

Mutagenetix , APF , CvDC
Find Mice (IMSR)

61 strains or lines available
Comparison Matrix

Gene Expression + Phenotype

Mice homozygous for a knock-out allele exhibit embryonic lethality before E7.5. Mice heterozygous for the allele exhibit shortened telomeres, chromosome segregation errors and increased tumor incidence associated with aneuploidy.

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All GO Annotations

63
GO References

8

Molecular Function

carbohydrate derivative binding	cytoskeletal protein binding	DNA binding	enzyme regulator	hydrolase	ligase	lipid binding	oxidoreductase	RNA binding	signaling receptor activity	signaling receptor binding	transcription	transferase	transporter

Biological Process

carbohydrate derivative metabolism	cell differentiation	cell population proliferation	cellular component organization	DNA-templated transcription	establishment of localization	homeostatic process	immune system process	lipid metabolic process	programmed cell death	protein metabolic process	response to stimulus	signaling	system development

Cellular Component

cell projection	cytoplasmic vesicle	cytoskeleton	cytosol	endoplasmic reticulum	endosome	extracellular region	Golgi apparatus	mitochondrion	membraneless organelle	nucleus	organelle envelope	organelle lumen	plasma membrane	protein-containing complex	synapse	vacuole

Click cells to view annotations.

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Expression Overview

GXD's primary emphasis is on endogenous gene expression during development. Click on grid cells to view annotations.

Blue cells = expressed in wild-type.
Gray triangles = other expression annotations only
(e.g. absence of expression or data from mutants).

early conceptus	embryo ectoderm	embryo endoderm	embryo mesoderm	embryo mesenchyme	extraembryonic component	alimentary system	auditory system	branchial arches	cardiovascular system	connective tissue	endocrine system	exocrine system	hemolymphoid system	integumental system	limbs	liver and biliary system	musculoskeletal system	nervous system	olfactory system	reproductive system	respiratory system	urinary system	visual system

Click cells to view annotations.

Assay Results

710
Tissues

2
cDNA Data

14
Literature Summary

2

Tissue x Stage Matrix

Comparison Matrix

Gene Expression + Phenotype

Other Mouse Links

Allen Institute

GEO

Expression Atlas
Other Vertebrate Links

Xenbase dna2

ZFIN dna2

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All Sequences

53
RefSeq

6
UniProt

2
CCDS

CCDS35923.1

Ensembl

ENSMUSG00000036875 (Evidence)
NCBI Gene

327762

			Length	Strain/Species	Flank
genomic	ENSMUSG00000036875	Ensembl Gene Model \| MGI Sequence Detail	27160	C57BL/6J	± kb
transcript	ENSMUST00000131422	Ensembl \| MGI Sequence Detail	4122	Not Applicable
polypeptide	ENSMUSP00000115750	Ensembl \| MGI Sequence Detail	1062	Not Applicable

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UniProt

2 Sequences
Protein Ontology

PR:000006554 DNA replication ATP-dependent helicase/nuclease DNA2

(term hierarchy)
PDB

5EAN, 5EAW, 5EAX
EC

3.1.-.-, 3.6.4.12
InterPro Domains

IPR051827 CRISPR-associated exonuclease Cas4

IPR041677 DNA2/NAM7 helicase, helicase domain

IPR041679 DNA2/NAM7 helicase-like, C-terminal

IPR045055 DNA2/NAM7-like helicase

IPR048459 DNA2, rift barrel domain

IPR026851 DNA replication ATP-dependent helicase/nuclease Dna2/JHS1, DEXXQ-box helicase domain

IPR014808 DNA replication factor Dna2, N-terminal

IPR011604 PD-(D/E)XK endonuclease-like domain superfamily

IPR027417 P-loop containing nucleoside triphosphate hydrolase

IPR047187 Upf1-like, C-terminal helicase domain
GlyGen

Q6ZQJ5 1 site, 1 O-linked glycan (1 site)

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All nucleic 15

cDNA 14

Primer pair 1

Microarray probesets 3

Summaries

All 41

Developmental Gene Expression 2

Gene Ontology 8

Phenotypes 13
Earliest

J:109968 Roderick TH, et al., Nineteen paracentric chromosomal inversions in mice. Genetics. 1974 Jan;76(1):109-17
Latest

J:267504 Kiyama T, et al., Essential roles of mitochondrial biogenesis regulator Nrf1 in retinal development and homeostasis. Mol Neurodegener. 2018 Oct 17;13(1):56

TSS for Dna2:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr93739	Chr10:62782790-62782852 (+)	16 bp

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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