Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	1763
Gene name	DNA replication helicase/nuclease 2
Gene symbol	DNA2
Synonyms (NCBI Gene)	DNA2LRTS4hDNA2
Chromosome	10
Chromosome location	10q21.3
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 progres

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SNP ID	Visualize variation	Clinical significance	Consequence
rs181679245	G>T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant, non coding transcript variant
rs201999986	C>T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, non coding transcript variant, missense variant
rs376624048	G>A,T	Likely-pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs587777614	G>-	Pathogenic	Intron variant
rs746522359	C>T	Pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs768077989	GTCT>-	Likely-pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs777604935	CA>-,CACA	Likely-pathogenic	Stop gained, coding sequence variant, frameshift variant, upstream transcript variant, inframe indel, genic upstream transcript variant, non coding transcript variant
rs1554911807	TCACAGCTCCGC>-	Likely-pathogenic	Genic upstream transcript variant, intron variant, non coding transcript variant, splice donor variant, coding sequence variant
rs1590045526	T>-	Likely-pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs1590054876	G>A	Likely-pathogenic	Coding sequence variant, missense variant, non coding transcript variant
rs1590055107	T>-	Likely-pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant

227

Show/Hide all (227)

miRTarBase ID	miRNA	Experiments	Reference
MIRT691417	hsa-miR-548an	HITS-CLIP	23313552
MIRT691416	hsa-miR-18a-3p	HITS-CLIP	23313552
MIRT691415	hsa-miR-18b-3p	HITS-CLIP	23313552
MIRT691414	hsa-miR-3157-3p	HITS-CLIP	23313552
MIRT691413	hsa-miR-508-5p	HITS-CLIP	23313552
MIRT691412	hsa-miR-1273g-3p	HITS-CLIP	23313552
MIRT691411	hsa-miR-6849-3p	HITS-CLIP	23313552
MIRT691410	hsa-miR-939-3p	HITS-CLIP	23313552
MIRT691409	hsa-miR-766-3p	HITS-CLIP	23313552
MIRT691408	hsa-miR-4793-3p	HITS-CLIP	23313552
MIRT691407	hsa-miR-4486	HITS-CLIP	23313552
MIRT691406	hsa-miR-661	HITS-CLIP	23313552
MIRT691405	hsa-miR-4649-5p	HITS-CLIP	23313552
MIRT691404	hsa-miR-6729-5p	HITS-CLIP	23313552
MIRT691403	hsa-miR-6512-3p	HITS-CLIP	23313552
MIRT691402	hsa-miR-6720-5p	HITS-CLIP	23313552
MIRT691401	hsa-miR-7703	HITS-CLIP	23313552
MIRT671450	hsa-miR-6499-5p	HITS-CLIP	23313552
MIRT671449	hsa-miR-1199-3p	HITS-CLIP	23313552
MIRT671448	hsa-miR-4284	HITS-CLIP	23313552
MIRT671447	hsa-miR-24-3p	HITS-CLIP	23313552
MIRT671446	hsa-miR-3178	HITS-CLIP	23313552
MIRT671445	hsa-miR-7977	HITS-CLIP	23313552
MIRT688491	hsa-miR-548c-3p	HITS-CLIP	23313552
MIRT688490	hsa-miR-3613-3p	HITS-CLIP	23313552
MIRT688489	hsa-miR-4684-5p	HITS-CLIP	23313552
MIRT671450	hsa-miR-6499-5p	HITS-CLIP	23824327
MIRT671449	hsa-miR-1199-3p	HITS-CLIP	23824327
MIRT671448	hsa-miR-4284	HITS-CLIP	23824327
MIRT671447	hsa-miR-24-3p	HITS-CLIP	23824327
MIRT671446	hsa-miR-3178	HITS-CLIP	23824327
MIRT671445	hsa-miR-7977	HITS-CLIP	23824327
MIRT671450	hsa-miR-6499-5p	HITS-CLIP	23824327
MIRT671449	hsa-miR-1199-3p	HITS-CLIP	23824327
MIRT671448	hsa-miR-4284	HITS-CLIP	23824327
MIRT671447	hsa-miR-24-3p	HITS-CLIP	23824327
MIRT671446	hsa-miR-3178	HITS-CLIP	23824327
MIRT671445	hsa-miR-7977	HITS-CLIP	23824327
MIRT671450	hsa-miR-6499-5p	HITS-CLIP	23824327
MIRT671449	hsa-miR-1199-3p	HITS-CLIP	23824327
MIRT671448	hsa-miR-4284	HITS-CLIP	23824327
MIRT671447	hsa-miR-24-3p	HITS-CLIP	23824327
MIRT671446	hsa-miR-3178	HITS-CLIP	23824327
MIRT671445	hsa-miR-7977	HITS-CLIP	23824327
MIRT671450	hsa-miR-6499-5p	HITS-CLIP	23824327
MIRT671449	hsa-miR-1199-3p	HITS-CLIP	23824327
MIRT671448	hsa-miR-4284	HITS-CLIP	23824327
MIRT671447	hsa-miR-24-3p	HITS-CLIP	23824327
MIRT671446	hsa-miR-3178	HITS-CLIP	23824327
MIRT671445	hsa-miR-7977	HITS-CLIP	23824327
MIRT524118	hsa-let-7c-5p	PAR-CLIP	23446348
MIRT524117	hsa-miR-4458	PAR-CLIP	23446348
MIRT524116	hsa-let-7i-5p	PAR-CLIP	23446348
MIRT524115	hsa-let-7d-5p	PAR-CLIP	23446348
MIRT524114	hsa-let-7g-5p	PAR-CLIP	23446348
MIRT524113	hsa-let-7e-5p	PAR-CLIP	23446348
MIRT524112	hsa-let-7f-5p	PAR-CLIP	23446348
MIRT524111	hsa-let-7b-5p	PAR-CLIP	23446348
MIRT524110	hsa-let-7a-5p	PAR-CLIP	23446348
MIRT524109	hsa-miR-98-5p	PAR-CLIP	23446348
MIRT524108	hsa-miR-4500	PAR-CLIP	23446348
MIRT524107	hsa-miR-6888-5p	PAR-CLIP	23446348
MIRT524105	hsa-miR-3929	PAR-CLIP	23446348
MIRT524106	hsa-miR-4419b	PAR-CLIP	23446348
MIRT524104	hsa-miR-4478	PAR-CLIP	23446348
MIRT524103	hsa-miR-7162-3p	PAR-CLIP	23446348
MIRT524102	hsa-miR-485-5p	PAR-CLIP	23446348
MIRT524101	hsa-miR-6884-5p	PAR-CLIP	23446348
MIRT524100	hsa-miR-202-3p	PAR-CLIP	23446348
MIRT524099	hsa-miR-7160-5p	PAR-CLIP	23446348
MIRT524098	hsa-miR-665	PAR-CLIP	23446348
MIRT691417	hsa-miR-548an	HITS-CLIP	23313552
MIRT691416	hsa-miR-18a-3p	HITS-CLIP	23313552
MIRT691415	hsa-miR-18b-3p	HITS-CLIP	23313552
MIRT691414	hsa-miR-3157-3p	HITS-CLIP	23313552
MIRT691413	hsa-miR-508-5p	HITS-CLIP	23313552
MIRT691412	hsa-miR-1273g-3p	HITS-CLIP	23313552
MIRT691411	hsa-miR-6849-3p	HITS-CLIP	23313552
MIRT691410	hsa-miR-939-3p	HITS-CLIP	23313552
MIRT691409	hsa-miR-766-3p	HITS-CLIP	23313552
MIRT691408	hsa-miR-4793-3p	HITS-CLIP	23313552
MIRT691407	hsa-miR-4486	HITS-CLIP	23313552
MIRT691406	hsa-miR-661	HITS-CLIP	23313552
MIRT691405	hsa-miR-4649-5p	HITS-CLIP	23313552
MIRT691404	hsa-miR-6729-5p	HITS-CLIP	23313552
MIRT691403	hsa-miR-6512-3p	HITS-CLIP	23313552
MIRT691402	hsa-miR-6720-5p	HITS-CLIP	23313552
MIRT691401	hsa-miR-7703	HITS-CLIP	23313552
MIRT671450	hsa-miR-6499-5p	HITS-CLIP	23313552
MIRT671449	hsa-miR-1199-3p	HITS-CLIP	23313552
MIRT671448	hsa-miR-4284	HITS-CLIP	23313552
MIRT671447	hsa-miR-24-3p	HITS-CLIP	23313552
MIRT671446	hsa-miR-3178	HITS-CLIP	23313552
MIRT671445	hsa-miR-7977	HITS-CLIP	23313552
MIRT688491	hsa-miR-548c-3p	HITS-CLIP	23313552
MIRT688490	hsa-miR-3613-3p	HITS-CLIP	23313552
MIRT688489	hsa-miR-4684-5p	HITS-CLIP	23313552
MIRT671450	hsa-miR-6499-5p	HITS-CLIP	23824327
MIRT671449	hsa-miR-1199-3p	HITS-CLIP	23824327
MIRT671448	hsa-miR-4284	HITS-CLIP	23824327
MIRT671447	hsa-miR-24-3p	HITS-CLIP	23824327
MIRT671446	hsa-miR-3178	HITS-CLIP	23824327
MIRT671445	hsa-miR-7977	HITS-CLIP	23824327
MIRT671450	hsa-miR-6499-5p	HITS-CLIP	23824327
MIRT671449	hsa-miR-1199-3p	HITS-CLIP	23824327
MIRT671448	hsa-miR-4284	HITS-CLIP	23824327
MIRT671447	hsa-miR-24-3p	HITS-CLIP	23824327
MIRT671446	hsa-miR-3178	HITS-CLIP	23824327
MIRT671445	hsa-miR-7977	HITS-CLIP	23824327
MIRT671450	hsa-miR-6499-5p	HITS-CLIP	23824327
MIRT671449	hsa-miR-1199-3p	HITS-CLIP	23824327
MIRT671448	hsa-miR-4284	HITS-CLIP	23824327
MIRT671447	hsa-miR-24-3p	HITS-CLIP	23824327
MIRT671446	hsa-miR-3178	HITS-CLIP	23824327
MIRT671445	hsa-miR-7977	HITS-CLIP	23824327
MIRT671450	hsa-miR-6499-5p	HITS-CLIP	23824327
MIRT671449	hsa-miR-1199-3p	HITS-CLIP	23824327
MIRT671448	hsa-miR-4284	HITS-CLIP	23824327
MIRT671447	hsa-miR-24-3p	HITS-CLIP	23824327
MIRT671446	hsa-miR-3178	HITS-CLIP	23824327
MIRT671445	hsa-miR-7977	HITS-CLIP	23824327
MIRT524118	hsa-let-7c-5p	PAR-CLIP	23446348
MIRT524117	hsa-miR-4458	PAR-CLIP	23446348
MIRT524116	hsa-let-7i-5p	PAR-CLIP	23446348
MIRT524115	hsa-let-7d-5p	PAR-CLIP	23446348
MIRT524114	hsa-let-7g-5p	PAR-CLIP	23446348
MIRT524113	hsa-let-7e-5p	PAR-CLIP	23446348
MIRT524112	hsa-let-7f-5p	PAR-CLIP	23446348
MIRT524111	hsa-let-7b-5p	PAR-CLIP	23446348
MIRT524110	hsa-let-7a-5p	PAR-CLIP	23446348
MIRT524109	hsa-miR-98-5p	PAR-CLIP	23446348
MIRT524108	hsa-miR-4500	PAR-CLIP	23446348
MIRT524107	hsa-miR-6888-5p	PAR-CLIP	23446348
MIRT524105	hsa-miR-3929	PAR-CLIP	23446348
MIRT524106	hsa-miR-4419b	PAR-CLIP	23446348
MIRT524104	hsa-miR-4478	PAR-CLIP	23446348
MIRT524103	hsa-miR-7162-3p	PAR-CLIP	23446348
MIRT524102	hsa-miR-485-5p	PAR-CLIP	23446348
MIRT524101	hsa-miR-6884-5p	PAR-CLIP	23446348
MIRT524100	hsa-miR-202-3p	PAR-CLIP	23446348
MIRT524099	hsa-miR-7160-5p	PAR-CLIP	23446348
MIRT524098	hsa-miR-665	PAR-CLIP	23446348
MIRT939512	hsa-let-7a	CLIP-seq
MIRT939513	hsa-let-7b	CLIP-seq
MIRT939514	hsa-let-7c	CLIP-seq
MIRT939515	hsa-let-7d	CLIP-seq
MIRT939516	hsa-let-7e	CLIP-seq
MIRT939517	hsa-let-7f	CLIP-seq
MIRT939518	hsa-let-7g	CLIP-seq
MIRT939519	hsa-let-7i	CLIP-seq
MIRT939520	hsa-miR-1914	CLIP-seq
MIRT939521	hsa-miR-200b	CLIP-seq
MIRT939522	hsa-miR-200c	CLIP-seq
MIRT939523	hsa-miR-202	CLIP-seq
MIRT939524	hsa-miR-217	CLIP-seq
MIRT939525	hsa-miR-218	CLIP-seq
MIRT939526	hsa-miR-297	CLIP-seq
MIRT939527	hsa-miR-3149	CLIP-seq
MIRT939528	hsa-miR-320a	CLIP-seq
MIRT939529	hsa-miR-320b	CLIP-seq
MIRT939530	hsa-miR-320c	CLIP-seq
MIRT939531	hsa-miR-320d	CLIP-seq
MIRT939532	hsa-miR-34b	CLIP-seq
MIRT939533	hsa-miR-3672	CLIP-seq
MIRT939534	hsa-miR-3927	CLIP-seq
MIRT939535	hsa-miR-3973	CLIP-seq
MIRT939536	hsa-miR-429	CLIP-seq
MIRT939537	hsa-miR-4418	CLIP-seq
MIRT939538	hsa-miR-4429	CLIP-seq
MIRT939539	hsa-miR-4643	CLIP-seq
MIRT939540	hsa-miR-4650-3p	CLIP-seq
MIRT939541	hsa-miR-4760-3p	CLIP-seq
MIRT939542	hsa-miR-4803	CLIP-seq
MIRT939543	hsa-miR-509-3-5p	CLIP-seq
MIRT939544	hsa-miR-509-5p	CLIP-seq
MIRT939545	hsa-miR-513a-3p	CLIP-seq
MIRT939546	hsa-miR-520d-5p	CLIP-seq
MIRT939547	hsa-miR-520g	CLIP-seq
MIRT939548	hsa-miR-520h	CLIP-seq
MIRT939549	hsa-miR-524-5p	CLIP-seq
MIRT939550	hsa-miR-548u	CLIP-seq
MIRT939551	hsa-miR-561	CLIP-seq
MIRT939552	hsa-miR-636	CLIP-seq
MIRT939553	hsa-miR-98	CLIP-seq
MIRT1547987	hsa-miR-4640-3p	CLIP-seq
MIRT1547988	hsa-miR-4765	CLIP-seq
MIRT1547989	hsa-miR-548a-3p	CLIP-seq
MIRT1547990	hsa-miR-548e	CLIP-seq
MIRT1547991	hsa-miR-548f	CLIP-seq
MIRT1977899	hsa-miR-128	CLIP-seq
MIRT1977900	hsa-miR-27a	CLIP-seq
MIRT1977901	hsa-miR-27b	CLIP-seq
MIRT1977902	hsa-miR-369-3p	CLIP-seq
MIRT1977903	hsa-miR-374a	CLIP-seq
MIRT1977904	hsa-miR-374b	CLIP-seq
MIRT1977905	hsa-miR-410	CLIP-seq
MIRT1977906	hsa-miR-4328	CLIP-seq
MIRT1977907	hsa-miR-4494	CLIP-seq
MIRT1977908	hsa-miR-4798-5p	CLIP-seq
MIRT1977909	hsa-miR-499a-5p	CLIP-seq
MIRT1977910	hsa-miR-5096	CLIP-seq
MIRT1977911	hsa-miR-513a-5p	CLIP-seq
MIRT1977899	hsa-miR-128	CLIP-seq
MIRT939520	hsa-miR-1914	CLIP-seq
MIRT939521	hsa-miR-200b	CLIP-seq
MIRT939522	hsa-miR-200c	CLIP-seq
MIRT939525	hsa-miR-218	CLIP-seq
MIRT1977900	hsa-miR-27a	CLIP-seq
MIRT1977901	hsa-miR-27b	CLIP-seq
MIRT2213291	hsa-miR-3125	CLIP-seq
MIRT2213292	hsa-miR-3150b-3p	CLIP-seq
MIRT2213293	hsa-miR-3916	CLIP-seq
MIRT939536	hsa-miR-429	CLIP-seq
MIRT1977906	hsa-miR-4328	CLIP-seq
MIRT2213294	hsa-miR-4427	CLIP-seq
MIRT2213295	hsa-miR-4661-5p	CLIP-seq
MIRT2213296	hsa-miR-4698	CLIP-seq
MIRT2213297	hsa-miR-4724-5p	CLIP-seq
MIRT2213298	hsa-miR-4784	CLIP-seq
MIRT1977908	hsa-miR-4798-5p	CLIP-seq
MIRT1977911	hsa-miR-513a-5p	CLIP-seq
MIRT939552	hsa-miR-636	CLIP-seq
MIRT2213299	hsa-miR-877	CLIP-seq
MIRT2679308	hsa-miR-2117	CLIP-seq
MIRT2679309	hsa-miR-4273	CLIP-seq
MIRT2679310	hsa-miR-4457	CLIP-seq
MIRT2679311	hsa-miR-513b	CLIP-seq

Show/Hide all (63)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000076	Process	DNA replication checkpoint signaling	IMP	22570476
GO:0000166	Function	Nucleotide binding	IEA
GO:0000723	Process	Telomere maintenance	IEA
GO:0000723	Process	Telomere maintenance	ISS	23604072
GO:0000729	Process	DNA double-strand break processing	IDA	21325134
GO:0000781	Component	Chromosome, telomeric region	IEA
GO:0000781	Component	Chromosome, telomeric region	ISS	23604072
GO:0003677	Function	DNA binding	IDA	20019387, 22570407
GO:0003677	Function	DNA binding	IEA
GO:0003678	Function	DNA helicase activity	IDA	16595799
GO:0003678	Function	DNA helicase activity	IDA	16595800
GO:0003723	Function	RNA binding	IBA
GO:0003824	Function	Catalytic activity	IEA
GO:0004386	Function	Helicase activity	IEA
GO:0004386	Function	Helicase activity	TAS	18995831
GO:0004518	Function	Nuclease activity	IDA	21325134
GO:0004518	Function	Nuclease activity	IEA
GO:0004518	Function	Nuclease activity	IMP	31478350
GO:0004519	Function	Endonuclease activity	IEA
GO:0005515	Function	Protein binding	IPI	20019387, 21325134
GO:0005524	Function	ATP binding	IEA
GO:0005634	Component	Nucleus	IDA	19487465
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	IDA
GO:0005654	Component	Nucleoplasm	TAS
GO:0005737	Component	Cytoplasm	IBA
GO:0005739	Component	Mitochondrion	HTP	34800366
GO:0005739	Component	Mitochondrion	IDA
GO:0005739	Component	Mitochondrion	IEA
GO:0005760	Component	Gamma DNA polymerase complex	IDA	18995831
GO:0006260	Process	DNA replication	IEA
GO:0006260	Process	DNA replication	IMP	22570476
GO:0006264	Process	Mitochondrial DNA replication	IDA	18995831, 19487465
GO:0006281	Process	DNA repair	IEA
GO:0006284	Process	Base-excision repair	IDA	18995831
GO:0006284	Process	Base-excision repair	IMP	37055165
GO:0006974	Process	DNA damage response	IEA
GO:0016787	Function	Hydrolase activity	IEA
GO:0016887	Function	ATP hydrolysis activity	IEA
GO:0016887	Function	ATP hydrolysis activity	IMP	31478350
GO:0016887	Function	ATP hydrolysis activity	TAS	18995831
GO:0017108	Function	5'-flap endonuclease activity	IBA
GO:0017108	Function	5'-flap endonuclease activity	IDA	16595799, 16595800, 18995831, 20019387, 22570407
GO:0017108	Function	5'-flap endonuclease activity	IEA
GO:0017108	Function	5'-flap endonuclease activity	TAS
GO:0017116	Function	Single-stranded DNA helicase activity	IDA	16595799, 16595800
GO:0032201	Process	Telomere maintenance via semi-conservative replication	IEA
GO:0032201	Process	Telomere maintenance via semi-conservative replication	TAS
GO:0032392	Process	DNA geometric change	TAS	27918544
GO:0033567	Process	DNA replication, Okazaki fragment processing	IDA	22570407
GO:0033892	Function	Deoxyribonuclease (pyrimidine dimer) activity	IDA	18995831
GO:0042645	Component	Mitochondrial nucleoid	IDA	19487465
GO:0043137	Process	DNA replication, removal of RNA primer	IDA	18995831
GO:0043139	Function	5'-3' DNA helicase activity	IDA	20019387
GO:0043504	Process	Mitochondrial DNA repair	IDA	19487465
GO:0045740	Process	Positive regulation of DNA replication	IDA	18995831
GO:0046872	Function	Metal ion binding	IEA
GO:0051536	Function	Iron-sulfur cluster binding	IEA
GO:0051539	Function	4 iron, 4 sulfur cluster binding	IEA
GO:0071932	Process	Replication fork reversal	IBA
GO:0090656	Process	T-circle formation	TAS	27918544
GO:1902990	Process	Mitotic telomere maintenance via semi-conservative replication	IEA
GO:1902990	Process	Mitotic telomere maintenance via semi-conservative replication	ISS	23604072

MIM	HGNC	e!Ensembl
601810	2939	ENSG00000138346

P51530

Protein name

DNA replication ATP-dependent helicase/nuclease DNA2 (hDNA2) (DNA replication ATP-dependent helicase-like homolog) [Includes: DNA replication nuclease DNA2 (EC 3.1.-.-); DNA replication ATP-dependent helicase DNA2 (EC 3.6.4.12)]

Protein function

Key enzyme involved in DNA replication and DNA repair in nucleus and mitochondrion. Involved in Okazaki fragments processing by cleaving long flaps that escape FEN1: flaps that are longer than 27 nucleotides are coated by replication protein A c

PDB

5EAY

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF08696	Dna2	71 → 282	DNA replication factor Dna2	Family
PF13086	AAA_11	625 → 736	AAA domain	Domain
PF13086	AAA_11	722 → 798	AAA domain	Domain
PF13087	AAA_12	805 → 1017	AAA domain	Domain

Sequence

MEQLNELELLMEKSFWEEAELPAELFQKKVVASFPRTVLSTGMDNRYLVLAVNTVQNKEG
NCEKRLVITASQSLENKELCILRNDWCSVPVEPGDIIHLEGDCTSDTWIIDKDFGYLILY
PDMLISGTSIASSIRCMRRAVLSETFRSSDPATRQMLIGTVLHEVFQKAINNSFAPEKLQ
ELAFQTIQEIRHLKEMYRLNLSQDEIKQEVEDYLPSFCKWAGDFMHKNTSTDFPQMQLSL
PSDNSKDNSTCNIEVVKPMDIEESIWSPRFGLKGKIDVTVGVKIHRGYKTKYKIMPLELK
TGKESNSIEHRSQVVLYTLLSQERRADPEAGLLLYLKTGQMYPVPANHLDKRELLKLRNQ
MAFSLFHRISKSATRQKTQLASLPQIIEEEKTCKYCSQIGNCALYSRAVEQQMDCSSVPI
VMLPKIEEETQHLKQTHLEYFSLWCLMLTLESQSKDNKKNHQNIWLMPASEMEKSGSCIG
NLIRMEHVKIVCDGQYLHNFQCKHGAIPVTNLMAGDRVIVSGEERSLFALSRGYVKEINM
TTVTCLLDRNLSVLPESTLFRLDQEEKNCDIDTPLGNLSKLMENTFVSKKLRDLIIDFRE
PQFISYLSSVLPHDAKDTVACILKGLNKPQRQAMKKVLLSKDYTLIVGMPGTGKTTTICT
LVRILYACGFSVLLTSYTHSAVDNILLKLAKFKIGFLRLGQIQKVHPAIQQFTEQEICRS
KSIKSLALLEELYNSQLIVATTCMGINHPIFSRKIFDFCIVDEASQISQPICLGPLFFSR
RFVLVGDHQQLPPLVLNREARALGMSESLFKRLEQNKSAVVQLTVQYRMNSKIMSLSNKL
TYEGKLECGSDKVANAVINLRHFKDVKLELEFYADYSDNPWLMGVFEPNNPVCFLNTDKV
PAPEQVEKGGVSNVTEAKLIVFLTSIFVKAGCSPSDIGIIAPYRQQLKIINDLLARSIGM
VEVNTVDKYQGRDKSIVLVSFVRSNKDGTVGELLKDWRRLNVAITRAKHKLILLGCVPSL
NCYPPLEKLLNHLNSEKLIIDLPSREHESLCHILGDFQRE

Sequence length

1060

Interactions

View interactions

	KEGG		Reactome
	DNA replication		Removal of the Flap Intermediate from the C-strand HDR through Single Strand Annealing (SSA) HDR through Homologous Recombination (HRR) Resolution of D-loop Structures through Synthesis-Dependent Strand Annealing (SDSA) Resolution of D-loop Structures through Holliday Junction Intermediates Homologous DNA Pairing and Strand Exchange Processing of DNA double-strand break ends Presynaptic phase of homologous DNA pairing and strand exchange Regulation of TP53 Activity through Phosphorylation Removal of the Flap Intermediate G2/M DNA damage checkpoint

144

Show/Hide Causal Diseases (5)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Ateleiotic dwarfism	Likely pathogenic; Pathogenic	rs587777614	RCV000162161
Mitochondrial DNA deletion syndrome with progressive myopathy	Likely pathogenic	rs1554911807, rs376624048, rs1590054876	RCV005357794 RCV000626157 RCV000995534
Rothmund-Thomson syndrome	Pathogenic; Likely pathogenic	rs2493999571, rs2494019349, rs1469135249	RCV003154066 RCV003154242 RCV003154243
Rothmund-Thomson syndrome type 4	Pathogenic; Likely pathogenic	rs2493999571, rs2494019349, rs1469135249	RCV004545280 RCV004545281 RCV004545282
Seckel syndrome 8	Likely pathogenic; Pathogenic	rs587777614, rs2494022602, rs2493927502	RCV000133461 RCV004542241 RCV004544248

Show/Hide Unknown Diseases (17)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Acute myeloid leukemia	Benign; Likely benign	rs141731085	RCV005897956
Cervical cancer	Benign; Likely benign	rs141731085, rs34191745	RCV005897958 RCV005870785
Cholangiocarcinoma	Benign; Likely benign	rs45479700, rs201474338, rs34191745, rs7098595, rs10998173	RCV005924692 RCV005870671 RCV005870786 RCV005902252 RCV005906865
Clear cell carcinoma of kidney	Likely benign; Benign	rs553392629, rs141731085	RCV005927022 RCV005897959
Congenital myopathy	Uncertain significance	rs1590064469	RCV000850089
DNA2-related disorder	Benign; Likely benign; Uncertain significance; Conflicting classifications of pathogenicity	rs34191745, rs773057527, rs191433666, rs769027938, rs757243525, rs577649991, rs2493927630, rs377489386, rs780722107, rs910368080, rs747618371, rs368283374, rs544049047, rs2493955025, rs933550344 View all (11 more)	RCV003931185 RCV004741042 RCV004741189 RCV003971047 RCV003936609 RCV003898509 RCV003410563 RCV003397262 RCV003399920 RCV003408464 RCV005871264 RCV003981163 RCV003966732 RCV003983483 RCV003966998 RCV003932627 RCV003932634 RCV003912680 RCV003959918 RCV003959949 RCV003962350 RCV003915466 RCV003915763 RCV003908344 RCV003942840 RCV003942850 RCV004740541
Familial cancer of breast	Likely benign; Benign; Uncertain significance	rs188115109, rs45479700, rs774303899, rs774205067, rs141731085, rs201474338	RCV005919160 RCV005924690 RCV005920734 RCV005930550 RCV005897955 RCV005870669
Gastric cancer	Benign	rs201474338, rs7098595, rs10998173	RCV005870670 RCV005902250 RCV005906863
Long QT syndrome	Likely benign	rs796052189	RCV000190201
Lung cancer	Benign	rs45479700	RCV005924693
Malignant tumor of esophagus	Benign	rs45479700	RCV005924691
Malignant tumor of urinary bladder	Uncertain significance; Benign; Likely benign	rs773532624, rs141731085	RCV005924123 RCV005897957
Microcephaly	Conflicting classifications of pathogenicity	rs200309792	RCV001252893
Ovarian serous cystadenocarcinoma	Benign; Likely benign	rs141731085, rs10998173	RCV005897960 RCV005906864
Thyroid cancer, nonmedullary, 1	Benign; Likely benign	rs141731085	RCV005897962
Uterine carcinosarcoma	Uncertain significance; Benign; Likely benign	rs200069526, rs141731085, rs7098595	RCV005932387 RCV005897961 RCV005902251
Uterine corpus endometrial carcinoma	Benign; Likely benign	rs45479700, rs141731085, rs34191745	RCV005924694 RCV005897963 RCV005870787

Show/Hide Text Mining Associations (22)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Adenomyosis	Associate	40527793
Alternating hemiplegia of childhood	Associate	24413054
Breast Neoplasms	Associate	33574966
Colorectal Neoplasms	Associate	23951239
Colorectal Neoplasms Hereditary Nonpolyposis	Associate	23951239
Endometrial Neoplasms	Associate	36916001
Endometriosis	Stimulate	34047877
Fanconi Anemia	Associate	22987153, 24626199
Flaujeac factor deficiency	Associate	31478350
Mitochondrial Myopathies	Associate	23352259, 31478350
Multiple System Atrophy	Associate	36064591
Muscle Weakness	Associate	31478350
Muscular Diseases	Associate	23352259, 31478350
Neoplasms	Stimulate	22491672
Neoplasms	Associate	27211550, 33574966, 37756561, 40623188
Ophthalmoplegia Chronic Progressive External	Associate	23352259
Ovarian Neoplasms	Stimulate	37756561
Propping Zerres syndrome	Associate	23352259
Seckel syndrome 1	Associate	24389050, 31045292
Seckel syndrome 2	Associate	31045292
Sleep Initiation and Maintenance Disorders	Associate	36064591
Visceral myopathy familial external ophthalmoplegia	Associate	23352259, 36064591

DNA2 (DNA replication helicase/nuclease 2)