TWNK (twinkle mtDNA helicase)

2016-10-01  

Identity

HGNC
TWNK
LOCATION
10q24.31
LOCUSID
56652
ALIAS
ATXN8,C10orf2,IOSCA,MTDPS7,PEO,PEO1,PEOA3,PRLTS5,SANDO,SCA8,TWINL

Other Information

Locus ID:

NCBI: 56652
MIM: 606075
HGNC: 1160
Ensembl: ENSG00000107815

Variants:

dbSNP: 56652
ClinVar: 56652
TCGA: ENSG00000107815
COSMIC: TWNK

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000107815ENST00000311916Q96RR1
ENSG00000107815ENST00000311916E5KSY5
ENSG00000107815ENST00000370228Q96RR1
ENSG00000107815ENST00000459764A0A2R8Y8D3
ENSG00000107815ENST00000473656A0A2R8Y4V4
ENSG00000107815ENST00000476766A0A2R8Y746
ENSG00000107815ENST00000643860Q96RR1
ENSG00000107815ENST00000647109A0A2R8YF85
ENSG00000107815ENST00000650396A0A3B3IT76

Expression (GTEx)

0
5
10
15
20
25
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Pathways

PathwaySourceExternal ID
Organelle biogenesis and maintenanceREACTOMER-HSA-1852241
Mitochondrial biogenesisREACTOMER-HSA-1592230
Transcriptional activation of mitochondrial biogenesisREACTOMER-HSA-2151201

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
365280582023The N-terminal domain of human mitochondrial helicase Twinkle has DNA-binding activity crucial for supporting processive DNA synthesis by polymerase γ.2
365280582023The N-terminal domain of human mitochondrial helicase Twinkle has DNA-binding activity crucial for supporting processive DNA synthesis by polymerase γ.2
359141292022Structural insight and characterization of human Twinkle helicase in mitochondrial disease.6
359141292022Structural insight and characterization of human Twinkle helicase in mitochondrial disease.6
338479682021Stimulation of Variant Forms of the Mitochondrial DNA Helicase Twinkle by the Mitochondrial Single-Stranded DNA-Binding Protein.0
338479682021Stimulation of Variant Forms of the Mitochondrial DNA Helicase Twinkle by the Mitochondrial Single-Stranded DNA-Binding Protein.0
321611532020Clinical, pathological and genetic spectrum in 89 cases of mitochondrial progressive external ophthalmoplegia.15
322135982020Single-molecule level structural dynamics of DNA unwinding by human mitochondrial Twinkle helicase.9
323879642020Characteristics of globus pallidus internus local field potentials in generalized dystonia patients with TWNK mutation.4
330872822020Consequences of compromised mitochondrial genome integrity.22
333964182020Progressive External Ophthalmoplegia in Polish Patients-From Clinical Evaluation to Genetic Confirmation.1
321611532020Clinical, pathological and genetic spectrum in 89 cases of mitochondrial progressive external ophthalmoplegia.15
322135982020Single-molecule level structural dynamics of DNA unwinding by human mitochondrial Twinkle helicase.9
323879642020Characteristics of globus pallidus internus local field potentials in generalized dystonia patients with TWNK mutation.4
330872822020Consequences of compromised mitochondrial genome integrity.22

Citation

Dessen P

TWNK (twinkle mtDNA helicase)

Atlas Genet Cytogenet Oncol Haematol. 2016-10-01

Online version: http://atlasgeneticsoncology.org/gene/56615