TWNK (twinkle mtDNA helicase)

Gene
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
56652
Gene name Gene Name - the full gene name approved by the HGNC.
Twinkle mtDNA helicase
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
TWNK
Synonyms (NCBI Gene) Gene synonyms aliases
ATXN8, C10orf2, IOSCA, MTDPS7, PEO, PEO1, PEOA3, PRLTS5, SANDO, SCA8, TWINL
Disease Acronyms (UniProt) Disease acronyms from UniProt database
MTDPS7, PEOA3, PRLTS5, SANDO, SCA8
Chromosome Chromosome number
10
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
10q24.31
Summary Summary of gene provided in NCBI Entrez Gene.
This gene encodes a hexameric DNA helicase which unwinds short stretches of double-stranded DNA in the 5` to 3` direction and, along with mitochondrial single-stranded DNA binding protein and mtDNA polymerase gamma, is thought to play a key role in mtDNA
SNPs SNP information provided by dbSNP.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(21)
SNP ID Visualize variation Clinical significance Consequence
rs80356540 A>G Pathogenic Missense variant, non coding transcript variant, coding sequence variant
rs80356541 C>T Pathogenic Intron variant, synonymous variant, 5 prime UTR variant, coding sequence variant, non coding transcript variant
rs80356544 C>T Pathogenic Missense variant, non coding transcript variant, coding sequence variant
rs111033572 G>C Pathogenic Missense variant, non coding transcript variant, coding sequence variant
rs111033574 G>A,C,T Pathogenic Stop gained, missense variant, non coding transcript variant, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(9)
miRTarBase ID miRNA Experiments Reference
MIRT528625 hsa-miR-4747-3p PAR-CLIP 22012620
MIRT528624 hsa-miR-4717-3p PAR-CLIP 22012620
MIRT528623 hsa-miR-4267 PAR-CLIP 22012620
MIRT528622 hsa-miR-6741-3p PAR-CLIP 22012620
MIRT528621 hsa-miR-4638-5p PAR-CLIP 22012620
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(18)
GO ID Ontology Definition Evidence Reference
GO:0002020 Function Protease binding IPI 14739292
GO:0003678 Function DNA helicase activity IBA 21873635
GO:0003697 Function Single-stranded DNA binding IBA 21873635
GO:0003697 Function Single-stranded DNA binding IDA 18971204
GO:0005524 Function ATP binding IEA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
606075 1160 ENSG00000107815
Protein
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Q96RR1
Protein name Twinkle mtDNA helicase (EC 5.6.2.3) (Progressive external ophthalmoplegia 1 protein) (T7 gp4-like protein with intramitochondrial nucleoid localization) (T7-like mitochondrial DNA helicase) (Twinkle protein, mitochondrial)
Protein function [Isoform 1]: Mitochondrial helicase involved in mtDNA replication and repair (PubMed:12975372, PubMed:15167897, PubMed:17324440, PubMed:18039713, PubMed:18971204, PubMed:25824949, PubMed:26887820, PubMed:27226550). Might have a role in mtDNA rep
PDB 7T8B , 7T8C
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF13481 AAA_25 374 → 564 Domain
Tissue specificity TISSUE SPECIFICITY: High relative levels in skeletal muscle, testis and pancreas. Lower levels of expression in the heart, brain, placenta, lung, liver, kidney, spleen, thymus, prostate, ovary, small intestine, colon and leukocytes. Expression is coregula
Sequence 
MWVLLRSGYPLRILLPLRGEWMGRRGLPRNLAPGPPRRRYRKETLQALDMPVLPVTATEI
RQYLRGHGIPFQDGHSCLRALSPFAESSQLKGQTGVTTSFSLFIDKTTGHFLCMTSLAEG
SWEDFQASVEGRGDGAREGFLLSKAPEFEDSEEVRRIWNRAIPLWELPDQEEVQLADTMF
GLTKVTDDTLKRFSVRYLRPARSLVFPWFSPGGSGLRGLKLLEAKCQGDGVSYEETTIPR
PSAYHNLFGLPLISRRDAEVVLTSRELDSLALNQSTGLPTLTLPRGTTCLPPALLPYLEQ
FRRIVFWLGDDLRSWEAAKLFARKLNPKRCFLVRPGDQQPRPLEALNGGFNLSRILRTAL
PAWHKSIVSFRQLREEVLGELSNVEQAAGLRWSRFPDLNRILKGHRKGELTVFTGPTGSG
KTTFISEYALDLCSQGVNTLWGSFEISNVRLARVMLTQFAEGRLEDQLDKYDHWADRFED
LPLYFMTFHGQQSIRTVIDTMQHAVYVYDICHVIIDNLQFMMGHEQLSTDRIAAQDYIIG
VFRKFATDNNCHVTLVIHPRKEDDDKELQTASIFGSAKASQEADNVLILQDRKLVTGPGK
RYLQVSKNRFDGDVGVFPLEFNKNSLTFSIPPKNKARLKKIKDDTGPVAKKPSSGKKGAT
TQNSEICSGQAPTPDQPDTSKRSK
Sequence length 684
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
  KEGG   Reactome
  Spinocerebellar ataxia   Transcriptional activation of mitochondrial biogenesis
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (24)
Causal
Disease term Disease name dbSNP ID References
Ataxia neuropathy spectrum disorder Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis rs80356543, rs113994095, rs121918046, rs121918048, rs121918049, rs113994097, rs796052899, rs769827124, rs139717885, rs139562274, rs1484810169, rs1596348443, rs1596352895, rs1596358408 15668446
Atrial fibrillation Atrial Fibrillation rs120074192, rs121908590, rs121908593, rs121434558, rs587776851, rs387906612, rs387906613, rs387906614, rs387906615, rs199472687, rs199472705, rs199473324, rs587777336, rs587777339, rs587777557
View all (6 more)
Auditory neuropathy Auditory neuropathy rs80356605, rs80356602, rs121908598, rs80356596, rs80356586, rs80356587, rs199766465, rs397515605, rs397515608, rs886039470, rs1131690806, rs201326023 27551684
Cardiomyopathy Cardiomyopathy, Dilated rs267607003, rs267607002, rs267607004, rs63750743, rs121908333, rs121908334, rs104894655, rs121434420, rs121434421, rs193922674, rs111517471, rs121908987, rs193922384, rs121909374, rs121909377
View all (900 more)
Show/Hide Unknown Diseases (9)
Unknown
Disease term Disease name Evidence References Source
Major affective disorder MAJOR AFFECTIVE DISORDER 2, MAJOR AFFECTIVE DISORDER 1, MAJOR AFFECTIVE DISORDER 4, MAJOR AFFECTIVE DISORDER 6, MAJOR AFFECTIVE DISORDER 7, MAJOR AFFECTIVE DISORDER 8, MAJOR AFFECTIVE DISORDER 9 ClinVar
Mental depression Depressive disorder ClinVar
Peripheral axonal neuropathy Peripheral axonal neuropathy ClinVar
Progressive external ophthalmoplegia Chronic progressive external ophthalmoplegia ClinVar
Show/Hide Text Mining Associations (48)
Associations from Text Mining
Disease Name Relationship Type References
Alcoholic Neuropathy Associate 24816431
Ataxia Associate 31852434, 37932750
Atrophy Associate 28178980
Auditory neuropathy Associate 39340975
Brain Stem Neoplasms Associate 37316776
Carcinoma Ovarian Epithelial Associate 22233925
Cerebellar Ataxia Associate 32234020
Deafness Associate 32234020, 33095980
Depressive Disorder Associate 31852434
Disease Associate 25355836