======= C10orf2 =======


== Gene Information ==
  * **<color #00a2e8>Official Symbol</color>**: TWNK
  * **<color #00a2e8>Official Name</color>**: twinkle mtDNA helicase
  * **<color #00a2e8>Aliases and Previous Symbols</color>**: N/A
  * **<color #00a2e8>Entrez ID</color>**: [[https://www.ncbi.nlm.nih.gov/gene/?term=56652|56652]]
  * **<color #00a2e8>UniProt</color>**: [[https://www.uniprot.org/uniprot/Q96RR1|Q96RR1]]
  * **<color #00a2e8>Interactions</color>**: [[https://thebiogrid.org/search.php?search=C10orf2&organism=9606|BioGRID]]
  * **<color #00a2e8>PubMed articles</color>**: [[https://www.ncbi.nlm.nih.gov/pubmed/?term=gene%20C10orf2|Open PubMed]]
  * **<color #00a2e8>OMIM</color>**: [[https://omim.org/entry/606075|Open OMIM]]

== Function Summary ==
  * **<color #00a2e8>Entrez Summary</color>**:  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 replication. The protein localizes to the mitochondrial matrix and mitochondrial nucleoids. Mutations in this gene cause infantile onset spinocerebellar ataxia (IOSCA) and progressive external ophthalmoplegia (PEO) and are also associated with several mitochondrial depletion syndromes. Alternative splicing results in multiple transcript variants encoding distinct isoforms.[provided by RefSeq, Aug 2009]. 
  * **<color #00a2e8>UniProt Summary</color>**:  Involved in mitochondrial DNA (mtDNA) metabolism. Could function as an adenine nucleotide-dependent DNA helicase. Function inferred to be critical for lifetime maintenance of mtDNA integrity. In vitro, forms in combination with POLG, a processive replication machinery, which can use double-stranded DNA (dsDNA) as template to synthesize single-stranded DNA (ssDNA) molecules. May be a key regulator of mtDNA copy number in mammals. {ECO:0000269|PubMed:15167897}.

<button type='primary' size='sm' modal='Pfam_Domains'>Pfam Domains</button>
<button type='primary' size='sm' modal='GO_terms'>GO Terms</button>


<modal id='Pfam_Domains' size='lg' title='Pfam Domains'>
|DnaB C|
|KaiC|
</modal>

<modal id='GO_terms' size='lg' title='GO Terms'>
|5-3 DNA helicase activity|
|mitochondrial DNA replication|
|protein hexamerization|
|mitochondrial transcription|
|DNA unwinding involved in DNA replication|
|mitochondrial RNA metabolic process|
|mitochondrial nucleoid|
|cellular response to glucose stimulus|
|cellular response to hexose stimulus|
|cellular response to monosaccharide stimulus|
|cellular response to carbohydrate stimulus|
|cellular glucose homeostasis|
|protease binding|
|single-stranded DNA binding|
|DNA duplex unwinding|
|DNA geometric change|
|DNA-dependent DNA replication|
|response to glucose|
|mitochondrial gene expression|
|response to hexose|
|response to monosaccharide|
|response to carbohydrate|
|glucose homeostasis|
|carbohydrate homeostasis|
|DNA replication|
|DNA conformation change|
|protein homooligomerization|
|mitochondrial matrix|
|mitochondrion organization|
|protein complex oligomerization|
|transcription, DNA-templated|
|nucleic acid-templated transcription|
|RNA biosynthetic process|
|cellular chemical homeostasis|
|cellular homeostasis|
|cellular response to oxygen-containing compound|
|chromosome organization|
|nucleobase-containing compound biosynthetic process|
|chemical homeostasis|
|heterocycle biosynthetic process|
|aromatic compound biosynthetic process|
|organic cyclic compound biosynthetic process|
|ATP binding|
|response to oxygen-containing compound|
|protein-containing complex assembly|
|cellular nitrogen compound biosynthetic process|
|homeostatic process|
|RNA metabolic process|
|cellular macromolecule biosynthetic process|
|macromolecule biosynthetic process|
|protein-containing complex subunit organization|
|gene expression|
</modal>
\\

 === CRISPR Data ===
<button type='primary' size='small' modal='Compound_Hit'>Compound Hit</button>
<button type='primary' size='small' modal='Most_Correlated_Genes'>Most Correlated Genes in Chemogenomics</button>
<button type='primary' size='small' modal='Essential_Avana'>Tissues where Essential in the Avana Dataset (DepMap 20Q1)</button>

<modal id='Compound_Hit' size='lg' title='Compound Hit'>
^Screen^Score^
|[[:results:exp246|UM0011500 10μM R05 exp246]]|-1.86|
|[[:results:exp300|VE-822 0.04μM R06 exp300]]|-1.84|
|[[:results:exp319|ABT-702 5μM plus Dimethyloxaloylglycine 11μM R07 exp319]]|-1.71|
|[[:results:exp532|TIC10 10μM R08 exp532]]|1.78|
|[[:results:exp534|Trientine 500μM R08 exp534]]|1.78|
|[[:results:exp469|CFI-400945 25μM R08 exp469]]|1.86|
|[[:results:exp451|Atovaquone 15μM R08 exp451]]|1.87|
|[[:results:exp346|CoCl2 18μM R07 exp346]]|1.96|
|[[:results:exp441|GSK-J4 1.5μM R08 exp441]]|1.96|
|[[:results:exp160|Ribavirin 10 to 15μM on day4 R04 exp160]]|2.15|
|[[:results:exp447|Amiloride 100μM R08 exp447]]|2.19|
|[[:results:exp25|Oligomycin-A 2μM R00 exp25]]|2.29|
|[[:results:exp529|Thimerosal 0.85μM R08 exp529]]|2.37|
|[[:results:exp440|Aphidicolin 0.4μM R08 exp440]]|2.65|
</modal>

<modal id='Most_Correlated_Genes' size='lg' title='Most Correlated Genes in Chemogenomics'>
^Gene^Correlation^
|[[:human genes:h:hsd17b10|HSD17B10]]|0.68|
|[[:human genes:m:mrps14|MRPS14]]|0.667|
|[[:human genes:y:yars2|YARS2]]|0.662|
|[[:human genes:s:sco2|SCO2]]|0.633|
|[[:human genes:d:dars2|DARS2]]|0.63|
|[[:human genes:g:gfm1|GFM1]]|0.629|
|[[:human genes:v:vars2|VARS2]]|0.626|
|[[:human genes:p:pars2|PARS2]]|0.62|
|[[:human genes:s:selrc1|SELRC1]]|0.618|
|[[:human genes:t:tars2|TARS2]]|0.618|
|[[:human genes:d:dap3|DAP3]]|0.613|
|[[:human genes:m:mrps21|MRPS21]]|0.611|
|[[:human genes:t:tefm|TEFM]]|0.611|
|[[:human genes:m:mrpl23|MRPL23]]|0.603|
|[[:human genes:q:qrsl1|QRSL1]]|0.6|
|[[:human genes:n:nars2|NARS2]]|0.6|
|[[:human genes:f:fastkd5|FASTKD5]]|0.595|
|[[:human genes:m:mrp63|MRP63]]|0.595|
|[[:human genes:m:mrps16|MRPS16]]|0.595|
|[[:human genes:m:mrps6|MRPS6]]|0.593|
|[[:human genes:m:mrpl21|MRPL21]]|0.589|
|[[:human genes:r:rars2|RARS2]]|0.586|
|[[:human genes:e:ears2|EARS2]]|0.579|
|[[:human genes:n:ndufb11|NDUFB11]]|0.572|
|[[:human genes:r:rpusd4|RPUSD4]]|0.571|
|[[:human genes:l:lars2|LARS2]]|0.568|
|[[:human genes:m:mrps26|MRPS26]]|0.567|
|[[:human genes:b:bcs1l|BCS1L]]|0.567|
|[[:human genes:m:mrps9|MRPS9]]|0.567|
|[[:human genes:n:ndufaf7|NDUFAF7]]|0.565|
|[[:human genes:s:sars2|SARS2]]|0.561|
|[[:human genes:f:fars2|FARS2]]|0.56|
|[[:human genes:t:tufm|TUFM]]|0.553|
|[[:human genes:n:ndufa3|NDUFA3]]|0.553|
|[[:human genes:r:rnaseh1|RNASEH1]]|0.55|
|[[:human genes:m:mrps18a|MRPS18A]]|0.55|
|[[:human genes:p:polg2|POLG2]]|0.546|
|[[:human genes:m:mrps2|MRPS2]]|0.545|
|[[:human genes:c:c17orf89|C17orf89]]|0.543|
|[[:human genes:k:kiaa0391|KIAA0391]]|0.541|
|[[:human genes:m:mrpl53|MRPL53]]|0.541|
|[[:human genes:r:rtn4ip1|RTN4IP1]]|0.539|
|[[:human genes:n:ndufs7|NDUFS7]]|0.537|
|[[:human genes:m:mrps34|MRPS34]]|0.534|
|[[:human genes:n:ndufc2|NDUFC2]]|0.531|
|[[:human genes:c:cox16|COX16]]|0.527|
|[[:human genes:m:mrpl15|MRPL15]]|0.527|
|[[:human genes:s:supv3l1|SUPV3L1]]|0.526|
|[[:human genes:m:mrpl47|MRPL47]]|0.526|
|[[:human genes:m:mrps5|MRPS5]]|0.521|
|[[:human genes:t:trub2|TRUB2]]|0.519|
|[[:human genes:m:mrps33|MRPS33]]|0.517|
|[[:human genes:h:hars2|HARS2]]|0.516|
|[[:human genes:m:mars2|MARS2]]|0.516|
|[[:human genes:m:mrpl55|MRPL55]]|0.515|
|[[:human genes:n:ndufs2|NDUFS2]]|0.515|
|[[:human genes:m:mrps25|MRPS25]]|0.513|
|[[:human genes:a:aars2|AARS2]]|0.511|
|[[:human genes:p:pgm3|PGM3]]|0.509|
|[[:human genes:g:gatc|GATC]]|0.508|
|[[:human genes:e:elac2|ELAC2]]|0.506|
|[[:human genes:p:pet112|PET112]]|0.506|
|[[:human genes:c:cox15|COX15]]|0.505|
|[[:human genes:g:gtpbp10|GTPBP10]]|0.504|
|[[:human genes:c:coa3|COA3]]|0.503|
|[[:human genes:r:rbfa|RBFA]]|0.502|
|[[:human genes:f:ftsj2|FTSJ2]]|0.499|
|[[:human genes:n:ndufb5|NDUFB5]]|0.498|
|[[:human genes:n:ndufa1|NDUFA1]]|0.496|
|[[:human genes:n:ndufa2|NDUFA2]]|0.496|
|[[:human genes:p:polg|POLG]]|0.495|
|[[:human genes:c:c12orf65|C12orf65]]|0.495|
|[[:human genes:u:uqcrc2|UQCRC2]]|0.494|
|[[:human genes:n:ndufb3|NDUFB3]]|0.491|
|[[:human genes:n:ndufv1|NDUFV1]]|0.491|
|[[:human genes:a:atp5sl|ATP5SL]]|0.489|
|[[:human genes:n:ndufaf3|NDUFAF3]]|0.489|
|[[:human genes:m:mrpl45|MRPL45]]|0.487|
|[[:human genes:m:mrps12|MRPS12]]|0.487|
|[[:human genes:m:mrpl43|MRPL43]]|0.485|
|[[:human genes:m:mrps23|MRPS23]]|0.484|
|[[:human genes:m:mrpl12|MRPL12]]|0.483|
|[[:human genes:s:slc25a26|SLC25A26]]|0.483|
|[[:human genes:e:ecsit|ECSIT]]|0.483|
|[[:human genes:a:atp5c1|ATP5C1]]|0.481|
|[[:human genes:m:mrpl3|MRPL3]]|0.479|
|[[:human genes:w:wbscr16|WBSCR16]]|0.478|
|[[:human genes:m:mtrf1l|MTRF1L]]|0.478|
|[[:human genes:p:pdss1|PDSS1]]|0.475|
|[[:human genes:m:mtg2|MTG2]]|0.475|
|[[:human genes:n:ndufa11|NDUFA11]]|0.474|
|[[:human genes:d:dhrsx|DHRSX]]|0.473|
|[[:human genes:d:dhx30|DHX30]]|0.473|
|[[:human genes:c:cox7b|COX7B]]|0.473|
|[[:human genes:g:gfm2|GFM2]]|0.473|
|[[:human genes:c:cox6c|COX6C]]|0.471|
|[[:human genes:n:ndufb6|NDUFB6]]|0.47|
|[[:human genes:p:polrmt|POLRMT]]|0.469|
|[[:human genes:t:tfam|TFAM]]|0.468|
|[[:human genes:m:mrps24|MRPS24]]|0.468|
|[[:human genes:m:mrpl44|MRPL44]]|0.466|
|[[:human genes:c:cox11|COX11]]|0.466|
|[[:human genes:a:atp5d|ATP5D]]|0.464|
|[[:human genes:w:wars2|WARS2]]|0.464|
|[[:human genes:n:ndufaf4|NDUFAF4]]|0.462|
|[[:human genes:u:uqcr10|UQCR10]]|0.462|
|[[:human genes:a:atp5b|ATP5B]]|0.462|
|[[:human genes:m:mrps7|MRPS7]]|0.457|
|[[:human genes:p:pnpt1|PNPT1]]|0.457|
|[[:human genes:a:atp5a1|ATP5A1]]|0.454|
|[[:human genes:a:alg8|ALG8]]|0.453|
|[[:human genes:c:chchd4|CHCHD4]]|0.451|
|[[:human genes:m:mrps22|MRPS22]]|0.451|
|[[:human genes:t:tomm20|TOMM20]]|0.449|
|[[:human genes:h:hccs|HCCS]]|0.448|
|[[:human genes:m:mtpap|MTPAP]]|0.448|
|[[:human genes:t:tmem242|TMEM242]]|0.447|
|[[:human genes:m:mrps11|MRPS11]]|0.447|
|[[:human genes:n:nubpl|NUBPL]]|0.446|
|[[:human genes:r:rpia|RPIA]]|0.446|
|[[:human genes:m:mrps10|MRPS10]]|0.445|
|[[:human genes:a:acad9|ACAD9]]|0.444|
|[[:human genes:a:atp5j|ATP5J]]|0.442|
|[[:human genes:c:cars2|CARS2]]|0.441|
|[[:human genes:m:mrpl20|MRPL20]]|0.44|
|[[:human genes:m:mrpl33|MRPL33]]|0.439|
|[[:human genes:m:mrpl11|MRPL11]]|0.439|
|[[:human genes:d:dolk|DOLK]]|0.439|
|[[:human genes:c:cox5a|COX5A]]|0.439|
|[[:human genes:h:hmgxb3|HMGXB3]]|0.437|
|[[:human genes:t:tfb1m|TFB1M]]|0.437|
|[[:human genes:c:coq6|COQ6]]|0.435|
|[[:human genes:a:aifm1|AIFM1]]|0.434|
|[[:human genes:d:dpagt1|DPAGT1]]|0.433|
|[[:human genes:c:cept1|CEPT1]]|0.433|
|[[:human genes:n:ndufb9|NDUFB9]]|0.431|
|[[:human genes:s:srd5a3|SRD5A3]]|0.43|
|[[:human genes:m:mrpl4|MRPL4]]|0.43|
|[[:human genes:a:atp5h|ATP5H]]|0.429|
|[[:human genes:t:triap1|TRIAP1]]|0.429|
|[[:human genes:a:atp5o|ATP5O]]|0.427|
|[[:human genes:k:kdsr|KDSR]]|0.425|
|[[:human genes:m:mrpl34|MRPL34]]|0.425|
|[[:human genes:t:timmdc1|TIMMDC1]]|0.425|
|[[:human genes:a:alg6|ALG6]]|0.422|
|[[:human genes:c:cox17|COX17]]|0.422|
|[[:human genes:c:coq2|COQ2]]|0.421|
|[[:human genes:g:grsf1|GRSF1]]|0.421|
|[[:human genes:m:mtif3|MTIF3]]|0.421|
|[[:human genes:l:lsm10|LSM10]]|0.42|
|[[:human genes:p:pet117|PET117]]|0.42|
|[[:human genes:c:coq4|COQ4]]|0.416|
|[[:human genes:m:mrpl18|MRPL18]]|0.415|
|[[:human genes:n:ndufs8|NDUFS8]]|0.413|
|[[:human genes:g:gfpt1|GFPT1]]|0.413|
|[[:human genes:t:tmem261|TMEM261]]|0.412|
|[[:human genes:m:mrpl42|MRPL42]]|0.412|
|[[:human genes:u:uqcrc1|UQCRC1]]|0.41|
|[[:human genes:p:pet100|PET100]]|0.41|
|[[:human genes:r:rpusd3|RPUSD3]]|0.407|
|[[:human genes:n:ndufb1|NDUFB1]]|0.406|
|[[:human genes:m:mrpl32|MRPL32]]|0.404|
|[[:human genes:m:minos1|MINOS1]]|0.403|
|[[:human genes:c:coq3|COQ3]]|0.402|
|[[:human genes:m:mrps17|MRPS17]]|0.402|
|[[:human genes:r:rnmtl1|RNMTL1]]|0.401|
|[[:human genes:c:cox20|COX20]]|0.401|
|[[:human genes:n:ndufa13|NDUFA13]]|0.4|
|[[:human genes:t:tomm40|TOMM40]]|0.4|
</modal>

<modal id='Essential_Avana' size='lg' title='Tissues where Essential in the Avana Dataset (DepMap 20Q1)'>
Global Fraction of Cell Lines Where Essential: 27/739
^Tissue^Fraction Of Cell Lines Where Essential^
|1290807.0|0/1|
|909776.0|0/1|
|bile duct|0/28|
|blood|1/28|
|bone|2/26|
|breast|3/33|
|central nervous system|0/56|
|cervix|1/4|
|colorectal|3/17|
|esophagus|0/13|
|fibroblast|0/1|
|gastric|1/16|
|kidney|1/21|
|liver|0/20|
|lung|5/75|
|lymphocyte|1/16|
|ovary|0/26|
|pancreas|1/24|
|peripheral nervous system|0/16|
|plasma cell|0/15|
|prostate|0/1|
|skin|0/24|
|soft tissue|1/9|
|thyroid|0/2|
|upper aerodigestive|1/22|
|urinary tract|1/29|
|uterus|0/5|
</modal>

== Essentiality in NALM6  ==
    * **<color #00a2e8>Essentiality Rank</color>**: 1206
    * **<color #00a2e8>Expression level (log2 read counts)</color>**: 6.26 
<button type='primary' size='small' modal='Dist_expr'>Expression Distribution</button>
<modal id='Dist_expr' size='lg' title='C10ORF2 Expression in NALM6 Cells: 6.26'>
{{:chemogenomics:nalm6 dist.png?nolink |}}
</modal>