COQ5 (coenzyme Q5, methyltransferase) - Rat Genome Database

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Gene: COQ5 (coenzyme Q5, methyltransferase) Homo sapiens
Analyze
Symbol: COQ5
Name: coenzyme Q5, methyltransferase
RGD ID: 1604266
HGNC Page HGNC:28722
Description: Enables 2-methoxy-6-polyprenyl-1,4-benzoquinol methyltransferase activity. Involved in methylation and ubiquinone biosynthetic process. Located in mitochondrial inner membrane and mitochondrial matrix. Part of ubiquinone biosynthesis complex. Implicated in primary coenzyme Q10 deficiency 9.
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: 2-methoxy-6-polyprenyl-1,4-benzoquinol methylase; 2-methoxy-6-polyprenyl-1,4-benzoquinol methylase, mitochondrial; coenzyme Q5 homolog, methyltransferase; COQ10D9; MGC104303; MGC4767; ubiquinone biosynthesis methyltransferase COQ5; ubiquinone biosynthesis methyltransferase COQ5, mitochondrial
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh3812120,503,279 - 120,529,158 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl12120,503,279 - 120,534,434 (-)EnsemblGRCh38hg38GRCh38
GRCh3712120,941,082 - 120,966,961 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 3612119,425,465 - 119,451,347 (-)NCBINCBI36Build 36hg18NCBI36
Celera12120,575,175 - 120,601,278 (-)NCBICelera
Cytogenetic Map12q24.31NCBI
HuRef12117,950,872 - 117,976,478 (-)NCBIHuRef
CHM1_112120,909,884 - 120,935,770 (-)NCBICHM1_1
T2T-CHM13v2.012120,492,451 - 120,518,340 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component

Molecular Function

Molecular Pathway Annotations     Click to see Annotation Detail View
Phenotype Annotations     Click to see Annotation Detail View
References

References - curated
# Reference Title Reference Citation
1. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
2. SMPDB Annotation Import Pipeline Pipeline to import SMPDB annotations from SMPDB into RGD
3. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
4. Transcriptomic characteristics of bronchoalveolar lavage fluid and peripheral blood mononuclear cells in COVID-19 patients. Xiong Y, etal., Emerg Microbes Infect. 2020 Dec;9(1):761-770. doi: 10.1080/22221751.2020.1747363.
Additional References at PubMed
PMID:8125298   PMID:12477932   PMID:14702039   PMID:15342556   PMID:15489334   PMID:18407958   PMID:20877624   PMID:21653829   PMID:21873635   PMID:22658674   PMID:23028342   PMID:23354120  
PMID:25152161   PMID:26186194   PMID:26344197   PMID:26972000   PMID:27155576   PMID:27432908   PMID:27499296   PMID:28125198   PMID:28514442   PMID:28927698   PMID:29044765   PMID:29568061  
PMID:31091453   PMID:31617661   PMID:32877691   PMID:33684176   PMID:33957083   PMID:33961781   PMID:34079125   PMID:34800366   PMID:35545034   PMID:35614220   PMID:36538041   PMID:36575184  
PMID:36976175   PMID:37314216   PMID:38425362  


Genomics

Comparative Map Data
COQ5
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh3812120,503,279 - 120,529,158 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl12120,503,279 - 120,534,434 (-)EnsemblGRCh38hg38GRCh38
GRCh3712120,941,082 - 120,966,961 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 3612119,425,465 - 119,451,347 (-)NCBINCBI36Build 36hg18NCBI36
Celera12120,575,175 - 120,601,278 (-)NCBICelera
Cytogenetic Map12q24.31NCBI
HuRef12117,950,872 - 117,976,478 (-)NCBIHuRef
CHM1_112120,909,884 - 120,935,770 (-)NCBICHM1_1
T2T-CHM13v2.012120,492,451 - 120,518,340 (-)NCBIT2T-CHM13v2.0
Coq5
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm395115,417,752 - 115,435,029 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl5115,417,725 - 115,435,031 (+)EnsemblGRCm39 Ensembl
GRCm385115,279,666 - 115,296,974 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl5115,279,666 - 115,296,972 (+)EnsemblGRCm38mm10GRCm38
MGSCv375115,729,711 - 115,746,981 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv365115,540,701 - 115,557,971 (+)NCBIMGSCv36mm8
Celera5112,377,253 - 112,394,272 (+)NCBICelera
Cytogenetic Map5FNCBI
cM Map556.03NCBI
Coq5
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81246,977,632 - 46,994,575 (-)NCBIGRCr8
mRatBN7.21241,316,922 - 41,333,855 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1241,316,748 - 41,333,848 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1242,483,601 - 42,500,534 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01243,097,264 - 43,114,198 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01242,157,816 - 42,174,750 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01247,078,753 - 47,095,438 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1247,078,753 - 47,095,438 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01248,872,069 - 48,888,977 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41242,585,095 - 42,602,004 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11242,448,482 - 42,465,470 (-)NCBI
Celera1242,937,655 - 42,953,546 (-)NCBICelera
Cytogenetic Map12q16NCBI
Coq5
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495545511,124,009 - 11,142,665 (+)EnsemblChiLan1.0
ChiLan1.0NW_00495545511,124,009 - 11,142,665 (+)NCBIChiLan1.0ChiLan1.0
COQ5
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v210128,572,292 - 128,599,318 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan112128,568,669 - 128,600,934 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v012118,085,605 - 118,112,591 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.112121,459,102 - 121,486,657 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl12121,459,102 - 121,486,657 (-)Ensemblpanpan1.1panPan2
COQ5
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.12616,404,370 - 16,421,507 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl2616,404,524 - 16,421,477 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha2616,407,529 - 16,424,662 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.02616,671,520 - 16,688,635 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl2616,670,858 - 16,688,621 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.12616,631,540 - 16,648,667 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.02616,707,838 - 16,724,939 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.02616,749,689 - 16,767,013 (-)NCBIUU_Cfam_GSD_1.0
Coq5
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024405118145,932,544 - 145,948,006 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_004936668431,422 - 448,367 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_004936668431,453 - 446,881 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
COQ5
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1440,460,857 - 40,478,830 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11440,461,610 - 40,480,586 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21442,935,428 - 42,953,304 (+)NCBISscrofa10.2Sscrofa10.2susScr3
COQ5
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.111115,858,488 - 115,882,184 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl11115,856,817 - 115,882,181 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_023666037129,216,939 - 129,241,868 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Coq5
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462474713,145,343 - 13,168,246 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462474713,145,380 - 13,165,169 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in COQ5
41 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 12q24.23-24.33(chr12:118165459-133182322)x3 copy number gain See cases [RCV000050866] Chr12:118165459..133182322 [GRCh38]
Chr12:118603264..133758908 [GRCh37]
Chr12:117087647..132268981 [NCBI36]
Chr12:12q24.23-24.33		 pathogenic
GRCh38/hg38 12q24.31(chr12:120504068-122459718)x1 copy number loss See cases [RCV000051342] Chr12:120504068..122459718 [GRCh38]
Chr12:120941871..122944265 [GRCh37]
Chr12:119426254..121510218 [NCBI36]
Chr12:12q24.31		 pathogenic
GRCh38/hg38 12q24.23-24.31(chr12:119286893-122638552)x3 copy number gain See cases [RCV000051981] Chr12:119286893..122638552 [GRCh38]
Chr12:119724698..123123099 [GRCh37]
Chr12:118209081..121689052 [NCBI36]
Chr12:12q24.23-24.31		 uncertain significance
GRCh38/hg38 12q24.21-24.33(chr12:115131583-133166920)x3 copy number gain See cases [RCV000053689] Chr12:115131583..133166920 [GRCh38]
Chr12:115569388..133743506 [GRCh37]
Chr12:114053771..132253579 [NCBI36]
Chr12:12q24.21-24.33		 pathogenic
GRCh38/hg38 12q24.23-24.33(chr12:119417382-133191400)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053691]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053691]|See cases [RCV000053691] Chr12:119417382..133191400 [GRCh38]
Chr12:119855187..133767986 [GRCh37]
Chr12:118339570..132278059 [NCBI36]
Chr12:12q24.23-24.33		 pathogenic
GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3 copy number gain See cases [RCV000139555] Chr12:121271..133196807 [GRCh38]
Chr12:282465..133773393 [GRCh37]
Chr12:100698..132283466 [NCBI36]
Chr12:12p13.33-q24.33		 pathogenic
GRCh38/hg38 12q24.21-24.33(chr12:114268403-133201316)x3 copy number gain See cases [RCV000143656] Chr12:114268403..133201316 [GRCh38]
Chr12:114706208..133777902 [GRCh37]
Chr12:113190591..132287975 [NCBI36]
Chr12:12q24.21-24.33		 pathogenic
GRCh37/hg19 12p13.33-q24.33(chr12:1-133851895)x3 copy number gain See cases [RCV000258805] Chr12:1..133851895 [GRCh37]
Chr12:12p13.33-q24.33		 pathogenic|likely pathogenic
GRCh37/hg19 12q24.23-24.31(chr12:118486842-120995382)x3 copy number gain See cases [RCV000447605] Chr12:118486842..120995382 [GRCh37]
Chr12:12q24.23-24.31		 likely pathogenic
GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)x3 copy number gain See cases [RCV000510482] Chr12:173787..133777902 [GRCh37]
Chr12:12p13.33-q24.33		 pathogenic
GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902) copy number gain See cases [RCV000511643] Chr12:173787..133777902 [GRCh37]
Chr12:12p13.33-q24.33		 pathogenic
GRCh37/hg19 12q24.23-24.31(chr12:120516089-121376736)x3 copy number gain not provided [RCV000683452] Chr12:120516089..121376736 [GRCh37]
Chr12:12q24.23-24.31		 uncertain significance
GRCh37/hg19 12q24.23-24.33(chr12:120367241-133777645)x3 copy number gain not provided [RCV000738070] Chr12:120367241..133777645 [GRCh37]
Chr12:12q24.23-24.33		 pathogenic
GRCh37/hg19 12p13.33-q24.33(chr12:191619-133777645)x3 copy number gain not provided [RCV000750246] Chr12:191619..133777645 [GRCh37]
Chr12:12p13.33-q24.33		 pathogenic
GRCh37/hg19 12p13.33-q24.33(chr12:621220-133779118)x3 copy number gain not provided [RCV000750253] Chr12:621220..133779118 [GRCh37]
Chr12:12p13.33-q24.33		 pathogenic
NM_032314.4(COQ5):c.497G>A (p.Arg166His) single nucleotide variant not specified [RCV004295372] Chr12:120516644 [GRCh38]
Chr12:120954447 [GRCh37]
Chr12:12q24.31		 likely benign
NM_032314.4(COQ5):c.395A>G (p.His132Arg) single nucleotide variant not provided [RCV000972865] Chr12:120516746 [GRCh38]
Chr12:120954549 [GRCh37]
Chr12:12q24.31		 likely benign
NM_032314.4(COQ5):c.16A>G (p.Ser6Gly) single nucleotide variant COQ5-related disorder [RCV003950574]|not provided [RCV000901416] Chr12:120529126 [GRCh38]
Chr12:120966929 [GRCh37]
Chr12:12q24.31		 likely benign
NM_032314.4(COQ5):c.771-6G>A single nucleotide variant COQ5-related disorder [RCV004758094]|not provided [RCV000918375] Chr12:120504087 [GRCh38]
Chr12:120941890 [GRCh37]
Chr12:12q24.31		 likely benign
NM_032314.4(COQ5):c.353G>A (p.Gly118Asp) single nucleotide variant Coenzyme q10 deficiency, primary, 9 [RCV003333133]|not provided [RCV001091858] Chr12:120516788 [GRCh38]
Chr12:120954591 [GRCh37]
Chr12:12q24.31		 likely pathogenic|uncertain significance
NM_032314.4(COQ5):c.86T>C (p.Leu29Pro) single nucleotide variant not specified [RCV004299421] Chr12:120529056 [GRCh38]
Chr12:120966859 [GRCh37]
Chr12:12q24.31		 uncertain significance
NM_032314.4(COQ5):c.520A>C (p.Lys174Gln) single nucleotide variant not specified [RCV004316786] Chr12:120516621 [GRCh38]
Chr12:120954424 [GRCh37]
Chr12:12q24.31		 uncertain significance
NM_032314.4(COQ5):c.756T>A (p.Asn252Lys) single nucleotide variant not specified [RCV004308090] Chr12:120504909 [GRCh38]
Chr12:120942712 [GRCh37]
Chr12:12q24.31		 uncertain significance
NM_032314.4(COQ5):c.575-7C>G single nucleotide variant COQ5-related disorder [RCV003913231]|not provided [RCV000947501] Chr12:120510130 [GRCh38]
Chr12:120947933 [GRCh37]
Chr12:12q24.31		 benign
NM_032314.4(COQ5):c.870G>A (p.Arg290=) single nucleotide variant not provided [RCV000934290] Chr12:120503982 [GRCh38]
Chr12:120941785 [GRCh37]
Chr12:12q24.31		 benign
GRCh37/hg19 12q24.23-24.31(chr12:120665945-120951612)x3 copy number gain not provided [RCV002473613] Chr12:120665945..120951612 [GRCh37]
Chr12:12q24.23-24.31		 uncertain significance
NM_032314.4(COQ5):c.611C>A (p.Pro204His) single nucleotide variant not provided [RCV001091857] Chr12:120510087 [GRCh38]
Chr12:120947890 [GRCh37]
Chr12:12q24.31		 uncertain significance
NC_000012.12:g.120502295_120511884dup duplication Coenzyme q10 deficiency, primary, 9 [RCV001257583] Chr12:120502294..120502295 [GRCh38]
Chr12:120940097..120940098 [GRCh37]
Chr12:12q24.31		 pathogenic
NM_032314.4(COQ5):c.678T>G (p.Asp226Glu) single nucleotide variant not specified [RCV004610819] Chr12:120510020 [GRCh38]
Chr12:120947823 [GRCh37]
Chr12:12q24.31		 uncertain significance
NM_032314.4(COQ5):c.307C>G (p.His103Asp) single nucleotide variant not specified [RCV004610815] Chr12:120522259 [GRCh38]
Chr12:120960062 [GRCh37]
Chr12:12q24.31		 uncertain significance
NM_032314.4(COQ5):c.176T>C (p.Val59Ala) single nucleotide variant not specified [RCV004610818] Chr12:120528966 [GRCh38]
Chr12:120966769 [GRCh37]
Chr12:12q24.31		 uncertain significance
GRCh37/hg19 12q24.22-24.33(chr12:117461902-133841395)x3 copy number gain Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures [RCV001801213] Chr12:117461902..133841395 [GRCh37]
Chr12:12q24.22-24.33		 likely pathogenic
NM_032314.4(COQ5):c.267T>C (p.Gly89=) single nucleotide variant not provided [RCV001815748] Chr12:120522299 [GRCh38]
Chr12:120960102 [GRCh37]
Chr12:12q24.31		 benign|likely benign
GRCh37/hg19 12q24.23-24.31(chr12:118486842-120995382) copy number gain not specified [RCV002053027] Chr12:118486842..120995382 [GRCh37]
Chr12:12q24.23-24.31		 likely pathogenic
NM_032314.4(COQ5):c.461A>C (p.Glu154Ala) single nucleotide variant not specified [RCV004120681] Chr12:120516680 [GRCh38]
Chr12:120954483 [GRCh37]
Chr12:12q24.31		 uncertain significance
NM_032314.4(COQ5):c.596A>T (p.Asp199Val) single nucleotide variant not specified [RCV004149423] Chr12:120510102 [GRCh38]
Chr12:120947905 [GRCh37]
Chr12:12q24.31		 uncertain significance
NM_032314.4(COQ5):c.181G>A (p.Glu61Lys) single nucleotide variant not specified [RCV004138710] Chr12:120528961 [GRCh38]
Chr12:120966764 [GRCh37]
Chr12:12q24.31		 uncertain significance
GRCh37/hg19 12q24.31(chr12:120761046-121280839)x4 copy number gain not provided [RCV002475870] Chr12:120761046..121280839 [GRCh37]
Chr12:12q24.31		 uncertain significance
NM_032314.4(COQ5):c.10C>T (p.Pro4Ser) single nucleotide variant not specified [RCV004156053] Chr12:120529132 [GRCh38]
Chr12:120966935 [GRCh37]
Chr12:12q24.31		 uncertain significance
NM_032314.4(COQ5):c.261T>G (p.Ser87Arg) single nucleotide variant not specified [RCV004206192] Chr12:120522305 [GRCh38]
Chr12:120960108 [GRCh37]
Chr12:12q24.31		 uncertain significance
NM_032314.4(COQ5):c.842A>T (p.Tyr281Phe) single nucleotide variant not specified [RCV004160868] Chr12:120504010 [GRCh38]
Chr12:120941813 [GRCh37]
Chr12:12q24.31		 uncertain significance
NM_032314.4(COQ5):c.31A>C (p.Ser11Arg) single nucleotide variant not specified [RCV004255306] Chr12:120529111 [GRCh38]
Chr12:120966914 [GRCh37]
Chr12:12q24.31		 uncertain significance
NM_032314.4(COQ5):c.496C>T (p.Arg166Cys) single nucleotide variant not specified [RCV004343321] Chr12:120516645 [GRCh38]
Chr12:120954448 [GRCh37]
Chr12:12q24.31		 uncertain significance
NM_032314.4(COQ5):c.722G>A (p.Arg241Gln) single nucleotide variant not specified [RCV004349394] Chr12:120504943 [GRCh38]
Chr12:120942746 [GRCh37]
Chr12:12q24.31		 uncertain significance
NM_032314.4(COQ5):c.934G>A (p.Glu312Lys) single nucleotide variant not specified [RCV004346001] Chr12:120503834 [GRCh38]
Chr12:120941637 [GRCh37]
Chr12:12q24.31		 uncertain significance
NM_032314.4(COQ5):c.314T>C (p.Leu105Pro) single nucleotide variant not provided [RCV003456833] Chr12:120522252 [GRCh38]
Chr12:120960055 [GRCh37]
Chr12:12q24.31		 likely benign
GRCh37/hg19 12q24.31-24.33(chr12:120880079-133777902)x3 copy number gain not provided [RCV003484880] Chr12:120880079..133777902 [GRCh37]
Chr12:12q24.31-24.33		 pathogenic
NM_032314.4(COQ5):c.100C>T (p.Pro34Ser) single nucleotide variant not specified [RCV004372122] Chr12:120529042 [GRCh38]
Chr12:120966845 [GRCh37]
Chr12:12q24.31		 uncertain significance
NM_032314.4(COQ5):c.481T>C (p.Ser161Pro) single nucleotide variant not specified [RCV004372125] Chr12:120516660 [GRCh38]
Chr12:120954463 [GRCh37]
Chr12:12q24.31		 likely benign
NM_032314.4(COQ5):c.251A>G (p.Asp84Gly) single nucleotide variant not specified [RCV004372124] Chr12:120522315 [GRCh38]
Chr12:120960118 [GRCh37]
Chr12:12q24.31		 uncertain significance
NM_032314.4(COQ5):c.333T>G (p.Leu111=) single nucleotide variant COQ5-related disorder [RCV003962070] Chr12:120522233 [GRCh38]
Chr12:120960036 [GRCh37]
Chr12:12q24.31		 likely benign
NM_032314.4(COQ5):c.13G>A (p.Gly5Arg) single nucleotide variant not specified [RCV004372123] Chr12:120529129 [GRCh38]
Chr12:120966932 [GRCh37]
Chr12:12q24.31		 likely benign
NM_032314.4(COQ5):c.491G>A (p.Gly164Glu) single nucleotide variant not specified [RCV004372126] Chr12:120516650 [GRCh38]
Chr12:120954453 [GRCh37]
Chr12:12q24.31		 uncertain significance
NM_032314.4(COQ5):c.352+8C>T single nucleotide variant COQ5-related disorder [RCV003909809] Chr12:120522206 [GRCh38]
Chr12:120960009 [GRCh37]
Chr12:12q24.31		 likely benign
NM_032314.4(COQ5):c.312G>A (p.Pro104=) single nucleotide variant COQ5-related disorder [RCV003982181] Chr12:120522254 [GRCh38]
Chr12:120960057 [GRCh37]
Chr12:12q24.31		 benign
NM_032314.4(COQ5):c.156G>T (p.Thr52=) single nucleotide variant not provided [RCV003887202] Chr12:120528986 [GRCh38]
Chr12:120966789 [GRCh37]
Chr12:12q24.31		 likely benign
NM_032314.4(COQ5):c.826G>A (p.Gly276Arg) single nucleotide variant not specified [RCV004610816] Chr12:120504026 [GRCh38]
Chr12:120941829 [GRCh37]
Chr12:12q24.31		 uncertain significance
NM_032314.4(COQ5):c.23C>A (p.Ala8Asp) single nucleotide variant not specified [RCV004610817] Chr12:120529119 [GRCh38]
Chr12:120966922 [GRCh37]
Chr12:12q24.31		 uncertain significance
NC_000012.11:g.(?_120270555)_(124242579_?)dup duplication Deficiency of butyryl-CoA dehydrogenase [RCV004578383] Chr12:120270555..124242579 [GRCh37]
Chr12:12q24.23-24.31		 uncertain significance
NC_000012.12:g.120502281G>C single nucleotide variant not provided [RCV004810258] Chr12:120502281 [GRCh38]
Chr12:120940084 [GRCh37]
Chr12:12q24.31		 benign
NM_032314.4(COQ5):c.979C>A (p.Leu327Ile) single nucleotide variant not specified [RCV004910332] Chr12:120503789 [GRCh38]
Chr12:120941592 [GRCh37]
Chr12:12q24.31		 uncertain significance
NM_032314.4(COQ5):c.590T>C (p.Leu197Ser) single nucleotide variant not specified [RCV004910331] Chr12:120510108 [GRCh38]
Chr12:120947911 [GRCh37]
Chr12:12q24.31		 uncertain significance
miRNA Target Status (No longer updated)

Predicted Target Of
Summary Value
Count of predictions:1294
Count of miRNA genes:740
Interacting mature miRNAs:845
Transcripts:ENST00000288532, ENST00000445328, ENST00000546838, ENST00000547448, ENST00000547736, ENST00000547943, ENST00000551769, ENST00000552443
Prediction methods:Microtar, Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
1298449UAE2_HUrinary albumin excretion QTL 2 (human)20.005Urinary albumin excretionurine albumin:creatinine ratio (ACR)12102836889128836889Human
1643258BW205_HBody weight QTL 205 (human)4.080.00001Body fat amountpercent body fat1296630114122630114Human
597212860GWAS1308934_Hself reported educational attainment QTL GWAS1308934 (human)9e-12self reported educational attainment12120508765120508766Human
1643452BW104_HBody weight QTL 104 (human)1.890.005Body fat amountabdominal visceral12102395874128395874Human
597245726GWAS1341800_Hsex hormone-binding globulin measurement QTL GWAS1341800 (human)3e-11sex hormone-binding globulin measurement12120516687120516688Human
597047839GWAS1143913_HC-reactive protein measurement QTL GWAS1143913 (human)4e-10C-reactive protein measurementblood C-reactive protein level (CMO:0003160)12120526123120526124Human
597335584GWAS1431658_HC-reactive protein measurement QTL GWAS1431658 (human)5e-11C-reactive protein measurementblood C-reactive protein level (CMO:0003160)12120521401120521402Human
597335585GWAS1431659_HC-reactive protein measurement QTL GWAS1431659 (human)2e-08C-reactive protein measurementblood C-reactive protein level (CMO:0003160)12120526123120526124Human

Markers in Region
G62046  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3712120,941,157 - 120,941,309UniSTSGRCh37
Build 3612119,425,540 - 119,425,692RGDNCBI36
Celera12120,575,250 - 120,575,402RGD
Cytogenetic Map12q24.31UniSTS
HuRef12117,950,947 - 117,951,099UniSTS
D12S1527  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3712120,941,391 - 120,941,504UniSTSGRCh37
Build 3612119,425,774 - 119,425,887RGDNCBI36
Celera12120,575,484 - 120,575,597RGD
Cytogenetic Map12q24.31UniSTS
HuRef12117,951,181 - 117,951,294UniSTS
RH44487  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3712120,941,096 - 120,941,257UniSTSGRCh37
Build 3612119,425,479 - 119,425,640RGDNCBI36
Celera12120,575,189 - 120,575,350RGD
Cytogenetic Map12q24.31UniSTS
HuRef12117,950,886 - 117,951,047UniSTS
GeneMap99-GB4 RH Map12466.71UniSTS
NCBI RH Map12741.0UniSTS
SHGC-64326  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3712120,941,236 - 120,941,380UniSTSGRCh37
Build 3612119,425,619 - 119,425,763RGDNCBI36
Celera12120,575,329 - 120,575,473RGD
Cytogenetic Map12q24.31UniSTS
HuRef12117,951,026 - 117,951,170UniSTS
TNG Radiation Hybrid Map1259777.0UniSTS


Expression

RNA-SEQ Expression

adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
entire extraembryonic component
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
pharyngeal arch
renal system
reproductive system
respiratory system
sensory system
visual system
1204 2439 2788 2253 4974 1726 2351 6 624 1951 465 2270 7306 6472 53 3734 1 852 1744 1617 175 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_032314 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006719639 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024449224 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054373469 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC063943 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK057777 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK222610 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK225242 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK293656 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK298214 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK315681 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC004916 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC107874 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BP307378 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX647562 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471054 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068266 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EU700459 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000288532   ⟹   ENSP00000288532
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl12120,503,279 - 120,529,158 (-)Ensembl
Ensembl Acc Id: ENST00000445328   ⟹   ENSP00000401798
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl12120,503,574 - 120,529,161 (-)Ensembl
Ensembl Acc Id: ENST00000546838
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl12120,509,851 - 120,516,684 (-)Ensembl
Ensembl Acc Id: ENST00000547448
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl12120,526,893 - 120,529,154 (-)Ensembl
Ensembl Acc Id: ENST00000547736   ⟹   ENSP00000449933
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl12120,522,214 - 120,529,155 (-)Ensembl
Ensembl Acc Id: ENST00000547943   ⟹   ENSP00000449874
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl12120,510,020 - 120,529,165 (-)Ensembl
Ensembl Acc Id: ENST00000551769   ⟹   ENSP00000450001
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl12120,510,063 - 120,534,434 (-)Ensembl
Ensembl Acc Id: ENST00000552443   ⟹   ENSP00000449863
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl12120,503,969 - 120,529,140 (-)Ensembl
RefSeq Acc Id: NM_032314   ⟹   NP_115690
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3812120,503,279 - 120,529,158 (-)NCBI
GRCh3712120,941,082 - 120,966,964 (-)RGD
Build 3612119,425,465 - 119,451,347 (-)NCBI Archive
Celera12120,575,175 - 120,601,278 (-)RGD
HuRef12117,950,872 - 117,976,478 (-)RGD
CHM1_112120,909,884 - 120,935,770 (-)NCBI
T2T-CHM13v2.012120,492,451 - 120,518,340 (-)NCBI
Sequence:
RefSeq Acc Id: XM_006719639   ⟹   XP_006719702
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3812120,503,279 - 120,529,158 (-)NCBI
Sequence:
RefSeq Acc Id: XM_054373469   ⟹   XP_054229444
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.012120,492,451 - 120,518,340 (-)NCBI
RefSeq Acc Id: NP_115690   ⟸   NM_032314
- Peptide Label: precursor
- UniProtKB: Q96LV1 (UniProtKB/Swiss-Prot),   Q53HH0 (UniProtKB/Swiss-Prot),   Q32Q28 (UniProtKB/Swiss-Prot),   B4DEJ4 (UniProtKB/Swiss-Prot),   B3GK62 (UniProtKB/Swiss-Prot),   B2RDU9 (UniProtKB/Swiss-Prot),   Q9BSP8 (UniProtKB/Swiss-Prot),   Q5HYK3 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_006719702   ⟸   XM_006719639
- Peptide Label: isoform X1
- UniProtKB: F8VVX6 (UniProtKB/TrEMBL)
- Sequence:
Ensembl Acc Id: ENSP00000449874   ⟸   ENST00000547943
Ensembl Acc Id: ENSP00000449933   ⟸   ENST00000547736
Ensembl Acc Id: ENSP00000401798   ⟸   ENST00000445328
Ensembl Acc Id: ENSP00000288532   ⟸   ENST00000288532
Ensembl Acc Id: ENSP00000450001   ⟸   ENST00000551769
Ensembl Acc Id: ENSP00000449863   ⟸   ENST00000552443
RefSeq Acc Id: XP_054229444   ⟸   XM_054373469
- Peptide Label: isoform X1
- UniProtKB: F8VVX6 (UniProtKB/TrEMBL)

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q5HYK3-F1-model_v2 AlphaFold Q5HYK3 1-327 view protein structure

Promoters
RGD ID:6789914
Promoter ID:HG_KWN:16829
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:ENST00000302223,   NM_032314,   UC001TYO.1
Position:
Human AssemblyChrPosition (strand)Source
Build 3612119,451,296 - 119,452,057 (-)MPROMDB
RGD ID:7225617
Promoter ID:EPDNEW_H18553
Type:multiple initiation site
Name:COQ5_1
Description:coenzyme Q5, methyltransferase
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh3812120,529,155 - 120,529,215EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:28722 AgrOrtholog
COSMIC COQ5 COSMIC
Ensembl Genes ENSG00000110871 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000288532 ENTREZGENE
  ENST00000288532.11 UniProtKB/Swiss-Prot
  ENST00000552443 ENTREZGENE
Gene3D-CATH 3.40.50.150 UniProtKB/Swiss-Prot
GTEx ENSG00000110871 GTEx
HGNC ID HGNC:28722 ENTREZGENE
Human Proteome Map COQ5 Human Proteome Map
InterPro SAM-dependent_MTases UniProtKB/Swiss-Prot
  UbiE/COQ5_MeTrFase UniProtKB/Swiss-Prot
  UbiE/COQ5_MeTrFase_CS UniProtKB/Swiss-Prot
KEGG Report hsa:84274 UniProtKB/Swiss-Prot
NCBI Gene 84274 ENTREZGENE
OMIM 616359 OMIM
PANTHER 2-METHOXY-6-POLYPRENYL-1,4-BENZOQUINOL METHYLASE, MITOCHONDRIAL UniProtKB/Swiss-Prot
  METHYLTRANSFERASE UniProtKB/Swiss-Prot
Pfam Ubie_methyltran UniProtKB/Swiss-Prot
PharmGKB PA143485438 PharmGKB
PROSITE SAM_MT_UBIE UniProtKB/Swiss-Prot
  UBIE_1 UniProtKB/Swiss-Prot
  UBIE_2 UniProtKB/Swiss-Prot
Superfamily-SCOP SSF53335 UniProtKB/Swiss-Prot
UniProt B2RDU9 ENTREZGENE
  B3GK62 ENTREZGENE
  B4DEJ4 ENTREZGENE
  B4DP72_HUMAN UniProtKB/TrEMBL
  COQ5_HUMAN UniProtKB/Swiss-Prot
  F8VP53_HUMAN UniProtKB/TrEMBL
  F8VVD5_HUMAN UniProtKB/TrEMBL
  F8VVW7_HUMAN UniProtKB/TrEMBL
  F8VVX6 ENTREZGENE, UniProtKB/TrEMBL
  Q32Q28 ENTREZGENE
  Q53HH0 ENTREZGENE
  Q5HYK3 ENTREZGENE
  Q96LV1 ENTREZGENE
  Q9BSP8 ENTREZGENE
UniProt Secondary B2RDU9 UniProtKB/Swiss-Prot
  B3GK62 UniProtKB/Swiss-Prot
  B4DEJ4 UniProtKB/Swiss-Prot
  Q32Q28 UniProtKB/Swiss-Prot
  Q53HH0 UniProtKB/Swiss-Prot
  Q96LV1 UniProtKB/Swiss-Prot
  Q9BSP8 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2015-07-07 COQ5  coenzyme Q5, methyltransferase    coenzyme Q5 homolog, methyltransferase (S. cerevisiae)  Symbol and/or name change 5135510 APPROVED