CYP2A6 (cytochrome P450 family 2 subfamily A member 6) - Rat Genome Database

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Gene: CYP2A6 (cytochrome P450 family 2 subfamily A member 6) Homo sapiens
Analyze
Symbol: CYP2A6
Name: cytochrome P450 family 2 subfamily A member 6
RGD ID: 1343424
HGNC Page HGNC:2610
Description: Enables coumarin 7-hydroxylase activity; enzyme binding activity; and heme binding activity. Involved in coumarin catabolic process; steroid metabolic process; and xenobiotic catabolic process. Located in cytoplasmic microtubule.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: 1,4-cineole 2-exo-monooxygenase; coumarin 7-hydroxylase; CPA6; CYP2A; CYP2A3; CYPIIA6; cytochrome P450 2A6; cytochrome P450 IIA3; cytochrome P450(I); cytochrome P450, family 2, subfamily A, polypeptide 6; cytochrome P450, subfamily IIA (phenobarbital-inducible), polypeptide 6; flavoprotein-linked monooxygenase; P450C2A; P450PB; xenobiotic monooxygenase
RGD Orthologs
Mouse
Dog
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381940,843,541 - 40,850,447 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1940,843,541 - 40,850,447 (-)EnsemblGRCh38hg38GRCh38
GRCh371941,349,446 - 41,356,352 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361946,041,284 - 46,048,180 (-)NCBINCBI36Build 36hg18NCBI36
Build 341946,041,283 - 46,048,180NCBI
Celera1938,149,869 - 38,156,776 (-)NCBICelera
Cytogenetic Map19q13.2NCBI
HuRef1937,782,698 - 37,789,605 (-)NCBIHuRef
CHM1_11941,349,113 - 41,356,113 (-)NCBICHM1_1
T2T-CHM13v2.01943,664,238 - 43,671,146 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(+)-artemisinin  (ISO)
(+)-catechin  (ISO)
(+)-epicatechin-3-O-gallate  (ISO)
(+)-pilocarpine  (EXP)
(-)-cotinine  (EXP)
(-)-epigallocatechin 3-gallate  (ISO)
(-)-trans-epsilon-viniferin  (EXP)
(1->4)-beta-D-glucan  (ISO)
(S)-nicotine  (EXP,ISO)
1,1,1-Trichloro-2-(4-hydroxyphenyl)-2-(4-methoxyphenyl)ethane  (EXP)
1,7-dimethyluric acid  (EXP)
1,7-dimethylxanthine  (EXP)
1-naphthol  (EXP)
17alpha-ethynylestradiol  (ISO)
17beta-estradiol  (EXP)
1H-pyrazole  (EXP,ISO)
2,3,7,8-tetrachlorodibenzodioxine  (EXP,ISO)
2,6-dichlorobenzonitrile  (EXP,ISO)
2,6-dimethylaniline  (EXP)
2,6-dimethylnaphthalene  (EXP)
2-aminopurine  (ISO)
2-n-Propyl-4-pentenoic acid  (EXP)
2-tert-butylhydroquinone  (EXP,ISO)
3',5'-cyclic AMP  (ISO)
3,3',5,5'-tetrabromobisphenol A  (ISO)
3-methylcholanthrene  (ISO)
3-phenylprop-2-enal  (EXP)
4,4'-methanol-bisbenzonitrile  (EXP)
4,4'-methylene-bis-(2-chloroaniline)  (EXP)
4,6-dioxoheptanoic acid  (ISO)
4-(5,6,7,8-tetrahydroimidazo[1,5-a]pyridin-5-yl)benzonitrile  (EXP)
4-(N-nitrosomethylamino)-1-(3-pyridyl)butan-1-one  (EXP)
4-hydroxyphenyl retinamide  (ISO)
4-Hydroxyvalproic acid  (EXP)
4-nitroanisole  (EXP)
4-nitrophenol  (EXP)
5-(2-chloroethyl)-4-methylthiazole  (ISO)
5-aminolevulinic acid  (ISO)
5-aza-2'-deoxycytidine  (ISO)
5-fluorouracil  (EXP)
5-Hydroxyflavone  (EXP)
5-Hydroxyvalproic acid  (EXP)
5-methyltryptamine  (EXP)
6-(4-chlorophenyl)imidazo[2,1-b][1,3]thiazole-5-carbaldehyde O-(3,4-dichlorobenzyl)oxime  (EXP)
acenaphthene  (EXP)
acenaphthylene  (EXP)
acifluorfen  (ISO)
actinomycin D  (ISO)
afimoxifene  (EXP)
aflatoxin B1  (EXP,ISO)
Aflatoxin G1  (EXP)
aldehydo-D-glucose  (ISO)
alizarin  (EXP)
all-trans-retinoic acid  (EXP)
alpha-linolenic acid  (EXP)
alpha-methyltryptamine  (EXP)
amiodarone  (EXP)
amitrole  (ISO)
amodiaquine  (EXP)
Aroclor 1254  (EXP)
artesunate  (EXP)
atazanavir sulfate  (EXP)
atrazine  (EXP,ISO)
benidipine  (EXP)
benzaldehyde  (EXP)
benzo[a]pyrene  (EXP,ISO)
benzoic acid  (EXP)
benzyl alcohol  (EXP)
beta-naphthoflavone  (EXP,ISO)
bilirubin IXalpha  (EXP,ISO)
biliverdin  (EXP,ISO)
bisphenol A  (EXP)
bromodichloromethane  (EXP)
bucladesine  (ISO)
butylated hydroxyanisole  (EXP)
cadmium atom  (ISO)
cadmium dichloride  (ISO)
caffeine  (EXP)
calcitriol  (EXP)
captan  (ISO)
carbamazepine  (EXP)
carbendazim  (EXP)
carbosulfan  (EXP)
Chalepensin  (ISO)
chenodeoxycholic acid  (EXP)
chlorfluazuron  (EXP)
chlorpromazine  (EXP)
chlorpyrifos  (EXP,ISO)
chrysin  (EXP)
cisplatin  (EXP)
clofibric acid  (EXP,ISO)
clothianidin  (EXP)
cobalt dichloride  (EXP,ISO)
colforsin daropate hydrochloride  (ISO)
corticosterone  (EXP)
coumarin  (EXP,ISO)
cycloheximide  (EXP,ISO)
cyclosporin A  (EXP,ISO)
cyhalothrin  (EXP)
cylindrospermopsin  (EXP)
cypermethrin  (EXP)
cyproconazole  (EXP)
D-glucose  (ISO)
deoxycholic acid  (EXP)
desipramine  (EXP)
dexamethasone  (EXP)
diallyl disulfide  (EXP)
Diallyl sulfide  (EXP)
dichloroacetic acid  (ISO)
diclofenac  (ISO)
diethyldithiocarbamic acid  (EXP)
difenoconazole  (ISO)
dimethyl sulfoxide  (EXP)
dipropyl disulfide  (EXP)
Dipropyl sulfide  (EXP)
diquat  (ISO)
diuron  (EXP)
doramapimod  (ISO)
elemental selenium  (ISO)
endosulfan  (EXP,ISO)
enilconazole  (EXP)
estragole  (EXP)
ethanol  (EXP,ISO)
ethyl vanillin  (EXP)
felodipine  (EXP)
fenitrothion  (EXP)
fenvalerate  (EXP)
fipronil  (EXP)
fluphenazine  (EXP)
folpet  (ISO)
fructose  (ISO)
fulvestrant  (EXP)
furan  (ISO)
gallocatechin  (ISO)
glucose  (ISO)
glutathione  (EXP)
glycochenodeoxycholic acid  (EXP)
glycocholic acid  (EXP)
glycodeoxycholic acid  (EXP)
griseofulvin  (ISO)
halothane  (EXP)
hemin  (ISO)
hexaflumuron  (EXP)
hexamethylphosphoric triamide  (EXP)
hydrogen chloride  (ISO)
ifosfamide  (EXP)
indole-3-methanol  (EXP)
inulin  (ISO)
irinotecan  (EXP)
iron atom  (EXP)
iron(0)  (EXP)
isatin  (EXP)
isoprenaline  (ISO)
isoproturon  (EXP)
Isradipine  (EXP)
ketoconazole  (ISO)
kojic acid  (ISO)
L-ascorbic acid  (EXP,ISO)
lamotrigine  (EXP)
lead diacetate  (ISO)
lead(II) chloride  (ISO)
letrozole  (EXP)
linoleic acid  (EXP)
lipopolysaccharide  (ISO)
m-xylene  (EXP)
malathion  (EXP)
mangiferin  (EXP)
menadione  (ISO)
mercaptoethanol  (ISO)
methimazole  (EXP)
methotrexate  (ISO)
methoxsalen  (EXP)
methoxychlor  (EXP)
methoxyflurane  (EXP)
methyl tert-butyl ether  (EXP)
methylmercury chloride  (ISO)
mifepristone  (EXP)
monocrotaline  (ISO)
monosodium L-glutamate  (ISO)
myricetin  (EXP)
N'-Nitrosoanabasine  (EXP)
N'-Nitrosoanatabine  (EXP)
N'-Nitrosonornicotine  (EXP)
N,N-diethyl-m-toluamide  (EXP)
N,N-diisopropyltryptamine  (EXP)
N-acetyl-L-cysteine  (ISO)
N-methylthiourea  (EXP)
N-nitroso-N-methyl-4-aminobutyric acid  (EXP)
N-Nitrosodi-n-propylamine  (EXP)
N-nitrosodiethylamine  (EXP,ISO)
N-nitrosodimethylamine  (EXP)
N-Nitrosoguvacoline  (EXP)
N-nitrosomorpholine  (EXP)
N-nitrosopiperidine  (EXP)
N-Nitrosopyrrolidine  (EXP)
naphthalene  (EXP)
nefazodone  (EXP)
nicardipine  (EXP)
nicotine  (EXP,ISO)
o-anisidine  (EXP)
O-methyleugenol  (EXP)
o-xylene  (EXP)
obeticholic acid  (EXP)
ochratoxin A  (EXP)
octadecanoic acid  (EXP)
oleic acid  (EXP)
organoselenium compound  (EXP)
ozone  (ISO)
p-xylene  (EXP)
paracetamol  (EXP,ISO)
parathion  (EXP,ISO)
perfluorononanoic acid  (EXP)
perfluorooctane-1-sulfonic acid  (EXP,ISO)
perfluorooctanoic acid  (EXP,ISO)
permethrin  (EXP)
phenethyl isothiocyanate  (EXP,ISO)
phenobarbital  (EXP,ISO)
phenthoate  (EXP)
phenytoin  (ISO)
phorone  (ISO)
piperonyl butoxide  (ISO)
pirinixic acid  (ISO)
potassium dichromate  (ISO)
pregnenolone 16alpha-carbonitrile  (ISO)
profenofos  (EXP)
progesterone  (EXP)
quercetin  (EXP)
quinoline  (EXP)
resveratrol  (ISO)
rifampicin  (EXP,ISO)
safrole  (EXP)
selenium atom  (ISO)
senecionine  (ISO)
sevoflurane  (EXP)
silicon dioxide  (ISO)
sirolimus  (EXP)
skatole  (EXP)
sodium arsenite  (EXP,ISO)
staurosporine  (EXP)
Sudan I  (EXP)
sulfasalazine  (ISO)
sulforaphane  (EXP)
Sunset Yellow FCF  (EXP)
tamoxifen  (EXP)
tartrazine  (EXP)
tebufenozide  (EXP)
Tegafur  (EXP)
tert-butyl ethyl ether  (EXP)
testosterone  (EXP)
tetrachloroethene  (ISO)
tetracycline  (ISO)
thapsigargin  (ISO)
thiacloprid  (EXP)
thioacetamide  (ISO)
thioridazine  (EXP)
tin(II) chloride (anhydrous)  (ISO)
titanium dioxide  (ISO)
trans-cinnamic acid  (EXP)
tranylcypromine  (EXP)
trichloroethene  (ISO)
triflumuron  (EXP)
tryptamine  (EXP)
tryptamines  (EXP)
tunicamycin  (ISO)
umbelliferone  (EXP)
valproic acid  (EXP,ISO)
vanillin  (EXP)
vitamin E  (ISO)
zinc protoporphyrin  (ISO)

References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
3. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
4. SMPDB Annotation Import Pipeline Pipeline to import SMPDB annotations from SMPDB into RGD
5. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
6. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
7. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
Additional References at PubMed
PMID:1889415   PMID:1944238   PMID:2322567   PMID:2726448   PMID:2748347   PMID:3856261   PMID:4011450   PMID:7581481   PMID:7668294   PMID:7864805   PMID:8587134   PMID:9409631  
PMID:9827545   PMID:9890157   PMID:10544257   PMID:10781881   PMID:11054771   PMID:11207029   PMID:11237731   PMID:11241319   PMID:11259349   PMID:11278503   PMID:11434509   PMID:11684323  
PMID:11725533   PMID:11805739   PMID:11927498   PMID:11927840   PMID:11960911   PMID:11960914   PMID:12115524   PMID:12162851   PMID:12164325   PMID:12172220   PMID:12223434   PMID:12325023  
PMID:12406643   PMID:12419832   PMID:12445030   PMID:12477932   PMID:12708602   PMID:12721789   PMID:12749606   PMID:12844137   PMID:12883749   PMID:14568264   PMID:14583682   PMID:14981342  
PMID:15039299   PMID:15128046   PMID:15203795   PMID:15225612   PMID:15308589   PMID:15327835   PMID:15370155   PMID:15454735   PMID:15469410   PMID:15475735   PMID:15489334   PMID:15534625  
PMID:15564629   PMID:15592323   PMID:15618701   PMID:15660270   PMID:15665333   PMID:15671201   PMID:15680923   PMID:15861035   PMID:15861044   PMID:15900015   PMID:15940289   PMID:15993850  
PMID:16006997   PMID:16041240   PMID:16048566   PMID:16086027   PMID:16126166   PMID:16176798   PMID:16207711   PMID:16272956   PMID:16344560   PMID:16372023   PMID:16377082   PMID:16378601  
PMID:16402086   PMID:16402128   PMID:16452582   PMID:16470306   PMID:16636685   PMID:16720336   PMID:16758265   PMID:16857725   PMID:16891249   PMID:16952495   PMID:17015050   PMID:17036930  
PMID:17112802   PMID:17130279   PMID:17156750   PMID:17207267   PMID:17220563   PMID:17259654   PMID:17267622   PMID:17454707   PMID:17522595   PMID:17540336   PMID:17549345   PMID:17646279  
PMID:17683511   PMID:17916905   PMID:17927692   PMID:17934923   PMID:17979512   PMID:18004205   PMID:18188752   PMID:18212800   PMID:18216723   PMID:18356043   PMID:18360915   PMID:18380793  
PMID:18425152   PMID:18510611   PMID:18666753   PMID:18698229   PMID:18715882   PMID:18936436   PMID:18941913   PMID:18976031   PMID:18979093   PMID:19012698   PMID:19029318   PMID:19040121  
PMID:19082995   PMID:19104915   PMID:19225447   PMID:19279561   PMID:19290787   PMID:19300303   PMID:19303722   PMID:19339270   PMID:19343046   PMID:19361454   PMID:19365400   PMID:19371316  
PMID:19387893   PMID:19406142   PMID:19415821   PMID:19454817   PMID:19479063   PMID:19533856   PMID:19537956   PMID:19604090   PMID:19643819   PMID:19651758   PMID:19659438   PMID:19702528  
PMID:19703308   PMID:19751749   PMID:19779319   PMID:19789190   PMID:19845430   PMID:19921195   PMID:19956635   PMID:20012030   PMID:20061389   PMID:20089352   PMID:20136358   PMID:20139165  
PMID:20155256   PMID:20173083   PMID:20177288   PMID:20336063   PMID:20418888   PMID:20418890   PMID:20437850   PMID:20438369   PMID:20506136   PMID:20596643   PMID:20647221   PMID:20656072  
PMID:20701904   PMID:20717551   PMID:20719908   PMID:20734048   PMID:20734064   PMID:20860463   PMID:20887713   PMID:21205058   PMID:21265876   PMID:21326246   PMID:21410749   PMID:21418183  
PMID:21473878   PMID:21521021   PMID:21685187   PMID:21745589   PMID:21747048   PMID:21765098   PMID:21791872   PMID:21873635   PMID:21964962   PMID:22073590   PMID:22080838   PMID:22160797  
PMID:22217675   PMID:22271297   PMID:22322240   PMID:22342802   PMID:22465937   PMID:22497566   PMID:22498344   PMID:22547082   PMID:22614024   PMID:22696418   PMID:22706231   PMID:22847926  
PMID:22850738   PMID:22854688   PMID:22890016   PMID:23049750   PMID:23178447   PMID:23203414   PMID:23264731   PMID:23292114   PMID:23371292   PMID:23462429   PMID:23471717   PMID:23528144  
PMID:23649654   PMID:23733493   PMID:23813797   PMID:24033696   PMID:24045616   PMID:24127329   PMID:24163286   PMID:24192532   PMID:24305170   PMID:24651583   PMID:24988984   PMID:25006744  
PMID:25072098   PMID:25220663   PMID:25526961   PMID:25683822   PMID:25710939   PMID:25744963   PMID:25857233   PMID:26091970   PMID:26098700   PMID:26247835   PMID:26343999   PMID:26366873  
PMID:26370685   PMID:26407342   PMID:26644138   PMID:26648056   PMID:26662855   PMID:26715117   PMID:26725431   PMID:26757861   PMID:26818358   PMID:27035242   PMID:27113016   PMID:27322236  
PMID:27488534   PMID:27625140   PMID:27702941   PMID:27815364   PMID:27865452   PMID:27902773   PMID:27974382   PMID:28032407   PMID:28182203   PMID:28231062   PMID:28273397   PMID:28432340  
PMID:28472995   PMID:28514442   PMID:28542511   PMID:28734893   PMID:28811232   PMID:28886044   PMID:28921760   PMID:28931220   PMID:29568101   PMID:29724170   PMID:30048196   PMID:30094551  
PMID:30815984   PMID:31163215   PMID:31453782   PMID:31796940   PMID:31959879   PMID:32131765   PMID:32385545   PMID:32803792   PMID:33038907   PMID:33091566   PMID:33437219   PMID:33455085  
PMID:33660365   PMID:33961781   PMID:34006188   PMID:34050721   PMID:34224301   PMID:34476898   PMID:34576282   PMID:34655463   PMID:35190513   PMID:36123879   PMID:37059825   PMID:37104959  
PMID:37689358   PMID:38097766  


Genomics

Comparative Map Data
CYP2A6
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381940,843,541 - 40,850,447 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1940,843,541 - 40,850,447 (-)EnsemblGRCh38hg38GRCh38
GRCh371941,349,446 - 41,356,352 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361946,041,284 - 46,048,180 (-)NCBINCBI36Build 36hg18NCBI36
Build 341946,041,283 - 46,048,180NCBI
Celera1938,149,869 - 38,156,776 (-)NCBICelera
Cytogenetic Map19q13.2NCBI
HuRef1937,782,698 - 37,789,605 (-)NCBIHuRef
CHM1_11941,349,113 - 41,356,113 (-)NCBICHM1_1
T2T-CHM13v2.01943,664,238 - 43,671,146 (-)NCBIT2T-CHM13v2.0
Cyp2a5
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39726,534,764 - 26,542,689 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl726,534,730 - 26,542,973 (+)EnsemblGRCm39 Ensembl
GRCm38726,835,339 - 26,843,264 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl726,835,305 - 26,843,548 (+)EnsemblGRCm38mm10GRCm38
MGSCv37727,620,358 - 27,628,283 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36726,544,101 - 26,552,290 (+)NCBIMGSCv36mm8
Celera721,416,475 - 21,423,965 (+)NCBICelera
Cytogenetic Map7A3NCBI
cM Map715.54NCBI
CYP2A7
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11112,900,508 - 112,906,745 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1112,900,403 - 112,907,076 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1112,303,147 - 112,309,374 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.01113,498,625 - 113,504,857 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl1113,498,600 - 113,505,266 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.11113,058,524 - 113,064,755 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.01112,690,120 - 112,696,347 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.01113,684,433 - 113,690,643 (+)NCBIUU_Cfam_GSD_1.0

Variants

.
Variants in CYP2A6
39 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_000762.5(CYP2A6):c.479T>A (p.Leu160His) single nucleotide variant Nicotine, poor metabolism of [RCV000018483]|Warfarin response [RCV000018482] Chr19:40848628 [GRCh38]
Chr19:41354533 [GRCh37]
Chr19:19q13.2
pathogenic|drug response
CYP2A6*4A deletion CYP2A6*4A [RCV000018487]|Lung cancer, protection against [RCV000018486] Chr19:19q13.2 pathogenic|protective
NM_000762.5(CYP2A6):c.670T>C (p.Ser224Pro) single nucleotide variant Tegafur response [RCV000018488] Chr19:40847036 [GRCh38]
Chr19:41352941 [GRCh37]
Chr19:19q13.2
pathogenic|drug response
CYP2A6*3 variation CYP2A6*3 [RCV000018491]|Cyp2a6, v2 [RCV000018492]|Nicotine, poor metabolism of [RCV000018490] Chr19:19q13.2 pathogenic|drug response
CYP2A6*12A deletion CYP2A6*12A [RCV000018494]|Warfarin response [RCV000018493] Chr19:40849817..40880629 [GRCh38]
Chr19:41355722..41386534 [GRCh37]
Chr19:19q13.2
pathogenic|drug response
GRCh38/hg38 19q13.12-13.2(chr19:37319377-42738688)x3 copy number gain See cases [RCV000050636] Chr19:37319377..42738688 [GRCh38]
Chr19:37810279..43242840 [GRCh37]
Chr19:42502119..47934680 [NCBI36]
Chr19:19q13.12-13.2
pathogenic
GRCh38/hg38 19p13.2-q13.31(chr19:11227942-44626354)x3 copy number gain See cases [RCV000133888] Chr19:11227942..44626354 [GRCh38]
Chr19:11338618..45129651 [GRCh37]
Chr19:11199618..49821491 [NCBI36]
Chr19:19p13.2-q13.31
pathogenic
CM000681.1:g.41350895_41379148dup duplication Gestational diabetes mellitus uncontrolled [RCV000161868] Chr19:40844990..40873243 [GRCh38]
Chr19:41350895..41379148 [GRCh37]
Chr19:19q13.2
not provided
GRCh37/hg19 19q13.12-13.2(chr19:37582250-41630908)x3 copy number gain See cases [RCV000239839] Chr19:37582250..41630908 [GRCh37]
Chr19:19q13.12-13.2
pathogenic
GRCh37/hg19 19q13.2(chr19:41341589-41379148)x1 copy number loss not provided [RCV000752689] Chr19:41341589..41379148 [GRCh37]
Chr19:19q13.2
benign
GRCh37/hg19 19q13.2(chr19:41350886-41381485)x3 copy number gain See cases [RCV000449092] Chr19:41350886..41381485 [GRCh37]
Chr19:19q13.2
benign|likely benign
GRCh37/hg19 19q13.2(chr19:41354177-41388178)x3 copy number gain See cases [RCV000447054] Chr19:41354177..41388178 [GRCh37]
Chr19:19q13.2
likely benign
GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888) copy number gain See cases [RCV000512296] Chr19:260912..58956888 [GRCh37]
Chr19:19p13.3-q13.43
pathogenic
NM_000762.6(CYP2A6):c.280C>A (p.Gln94Lys) single nucleotide variant Inborn genetic diseases [RCV003242225] Chr19:40849881 [GRCh38]
Chr19:41355786 [GRCh37]
Chr19:19q13.2
uncertain significance
GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3 copy number gain See cases [RCV000511289] Chr19:260912..58956888 [GRCh37]
Chr19:19p13.3-q13.43
pathogenic|uncertain significance
GRCh37/hg19 19q13.2(chr19:41341589-41365095)x1 copy number loss not provided [RCV000752686] Chr19:41341589..41365095 [GRCh37]
Chr19:19q13.2
benign
GRCh37/hg19 19q13.2(chr19:41341589-41365095)x3 copy number gain not provided [RCV000752687] Chr19:41341589..41365095 [GRCh37]
Chr19:19q13.2
benign
GRCh37/hg19 19q13.2(chr19:41341589-41379148)x3 copy number gain not provided [RCV000752688] Chr19:41341589..41379148 [GRCh37]
Chr19:19q13.2
benign
GRCh37/hg19 19p13.3-q13.43(chr19:260912-59097160)x3 copy number gain not provided [RCV000752444] Chr19:260912..59097160 [GRCh37]
Chr19:19p13.3-q13.43
pathogenic
GRCh37/hg19 19p13.3-q13.43(chr19:68029-59110290)x3 copy number gain not provided [RCV000752439] Chr19:68029..59110290 [GRCh37]
Chr19:19p13.3-q13.43
pathogenic
GRCh37/hg19 19q13.2(chr19:41341589-41393760)x3 copy number gain not provided [RCV000740154] Chr19:41341589..41393760 [GRCh37]
Chr19:19q13.2
benign
GRCh37/hg19 19q13.2(chr19:41349732-41392885)x3 copy number gain not provided [RCV000740155] Chr19:41349732..41392885 [GRCh37]
Chr19:19q13.2
benign
GRCh37/hg19 19q13.2(chr19:41355999-41389306)x1 copy number loss not provided [RCV000740156] Chr19:41355999..41389306 [GRCh37]
Chr19:19q13.2
benign
NM_000762.6(CYP2A6):c.1252A>G (p.Asn418Asp) single nucleotide variant not provided [RCV000961660] Chr19:40844682 [GRCh38]
Chr19:41350587 [GRCh37]
Chr19:19q13.2
benign
NM_000762.6(CYP2A6):c.1440T>C (p.Phe480=) single nucleotide variant not provided [RCV000963722] Chr19:40843841 [GRCh38]
Chr19:41349746 [GRCh37]
Chr19:19q13.2
benign
NM_000762.6(CYP2A6):c.16A>C (p.Met6Leu) single nucleotide variant not provided [RCV000898342] Chr19:40850411 [GRCh38]
Chr19:41356316 [GRCh37]
Chr19:19q13.2
benign
NM_000762.6(CYP2A6):c.569G>T (p.Arg190Leu) single nucleotide variant not provided [RCV000915789] Chr19:40848304 [GRCh38]
Chr19:41354209 [GRCh37]
Chr19:19q13.2
likely benign
NM_000762.6(CYP2A6):c.837G>A (p.Glu279=) single nucleotide variant not provided [RCV000898489] Chr19:40846092 [GRCh38]
Chr19:41351997 [GRCh37]
Chr19:19q13.2
likely benign
GRCh37/hg19 19q11-13.33(chr19:28271106-49213832)x3 copy number gain not provided [RCV000845733] Chr19:28271106..49213832 [GRCh37]
Chr19:19q11-13.33
pathogenic
NM_000762.6(CYP2A6):c.1239C>T (p.Pro413=) single nucleotide variant not provided [RCV000892120] Chr19:40844695 [GRCh38]
Chr19:41350600 [GRCh37]
Chr19:19q13.2
benign
NM_000762.6(CYP2A6):c.1072G>A (p.Glu358Lys) single nucleotide variant Inborn genetic diseases [RCV003239736] Chr19:40845383 [GRCh38]
Chr19:41351288 [GRCh37]
Chr19:19q13.2
uncertain significance
NC_000019.9:g.(?_39904727)_(42931301_?)dup duplication Diamond-Blackfan anemia [RCV003122291]|MEGF8-related Carpenter syndrome [RCV003105286]|Maple syrup urine disease [RCV003105287]|TWIST1-related craniosynostosis [RCV003105285] Chr19:39904727..42931301 [GRCh37]
Chr19:19q13.2
uncertain significance
GRCh37/hg19 19q13.2(chr19:41304025-41928997)x3 copy number gain not provided [RCV001007048] Chr19:41304025..41928997 [GRCh37]
Chr19:19q13.2
uncertain significance
NM_000762.6(CYP2A6):c.539A>G (p.Asn180Ser) single nucleotide variant Inborn genetic diseases [RCV003277195] Chr19:40848334 [GRCh38]
Chr19:41354239 [GRCh37]
Chr19:19q13.2
uncertain significance
NM_000762.6(CYP2A6):c.472G>T (p.Asp158Tyr) single nucleotide variant Inborn genetic diseases [RCV003295915] Chr19:40848635 [GRCh38]
Chr19:41354540 [GRCh37]
Chr19:19q13.2
uncertain significance
NM_000762.6(CYP2A6):c.820C>T (p.Arg274Cys) single nucleotide variant Inborn genetic diseases [RCV002732682] Chr19:40846886 [GRCh38]
Chr19:41352791 [GRCh37]
Chr19:19q13.2
uncertain significance
NM_000762.6(CYP2A6):c.464T>G (p.Phe155Cys) single nucleotide variant Inborn genetic diseases [RCV002836943] Chr19:40848643 [GRCh38]
Chr19:41354548 [GRCh37]
Chr19:19q13.2
uncertain significance
GRCh37/hg19 19q13.2(chr19:41352689-41604171)x3 copy number gain not provided [RCV002475551] Chr19:41352689..41604171 [GRCh37]
Chr19:19q13.2
uncertain significance
NM_000762.6(CYP2A6):c.1146T>G (p.Asp382Glu) single nucleotide variant Inborn genetic diseases [RCV002865780] Chr19:40845309 [GRCh38]
Chr19:41351214 [GRCh37]
Chr19:19q13.2
uncertain significance
NM_000762.6(CYP2A6):c.19C>T (p.Leu7Phe) single nucleotide variant Inborn genetic diseases [RCV002682914] Chr19:40850408 [GRCh38]
Chr19:41356313 [GRCh37]
Chr19:19q13.2
uncertain significance
NM_000762.6(CYP2A6):c.793C>G (p.Arg265Gly) single nucleotide variant Inborn genetic diseases [RCV002893696] Chr19:40846913 [GRCh38]
Chr19:41352818 [GRCh37]
Chr19:19q13.2
uncertain significance
NM_000762.6(CYP2A6):c.635C>T (p.Thr212Met) single nucleotide variant Inborn genetic diseases [RCV002698060] Chr19:40848238 [GRCh38]
Chr19:41354143 [GRCh37]
Chr19:19q13.2
uncertain significance
NM_000762.6(CYP2A6):c.1420T>C (p.Ser474Pro) single nucleotide variant Inborn genetic diseases [RCV002875268] Chr19:40843861 [GRCh38]
Chr19:41349766 [GRCh37]
Chr19:19q13.2
uncertain significance
NM_000762.6(CYP2A6):c.727G>A (p.Gly243Arg) single nucleotide variant Inborn genetic diseases [RCV002717618] Chr19:40846979 [GRCh38]
Chr19:41352884 [GRCh37]
Chr19:19q13.2
uncertain significance
NM_000762.6(CYP2A6):c.827A>C (p.Gln276Pro) single nucleotide variant Inborn genetic diseases [RCV003209850] Chr19:40846879 [GRCh38]
Chr19:41352784 [GRCh37]
Chr19:19q13.2
uncertain significance
NM_000762.6(CYP2A6):c.368G>A (p.Arg123His) single nucleotide variant Inborn genetic diseases [RCV003374033] Chr19:40848739 [GRCh38]
Chr19:41354644 [GRCh37]
Chr19:19q13.2
uncertain significance
NM_000762.6(CYP2A6):c.753G>T (p.Lys251Asn) single nucleotide variant Inborn genetic diseases [RCV003346889] Chr19:40846953 [GRCh38]
Chr19:41352858 [GRCh37]
Chr19:19q13.2
uncertain significance
NM_000762.6(CYP2A6):c.312A>G (p.Gln104=) single nucleotide variant not provided [RCV003415253] Chr19:40849849 [GRCh38]
Chr19:41355754 [GRCh37]
Chr19:19q13.2
likely benign
NM_000762.6(CYP2A6):c.190C>T (p.Arg64Cys) single nucleotide variant not provided [RCV003425185] Chr19:40849971 [GRCh38]
Chr19:41355876 [GRCh37]
Chr19:19q13.2
likely benign
NM_000762.6(CYP2A6):c.1209T>C (p.Ser403=) single nucleotide variant not provided [RCV003406985] Chr19:40844725 [GRCh38]
Chr19:41350630 [GRCh37]
Chr19:19q13.2
likely benign
GRCh37/hg19 19q11-13.2(chr19:28271146-41508851)x3 copy number gain not specified [RCV003986115] Chr19:28271146..41508851 [GRCh37]
Chr19:19q11-13.2
pathogenic
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:946
Count of miRNA genes:619
Interacting mature miRNAs:701
Transcripts:ENST00000301141, ENST00000596719, ENST00000599960, ENST00000600495
Prediction methods:Miranda, Rnahybrid
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.

Markers in Region
D19S993  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371941,349,484 - 41,349,581UniSTSGRCh37
Build 361946,041,324 - 46,041,421RGDNCBI36
Celera1938,149,910 - 38,150,007RGD
Cytogenetic Map19q13.2UniSTS
HuRef1937,782,739 - 37,782,836UniSTS
Stanford-G3 RH Map191844.0UniSTS
GeneMap99-G3 RH Map191855.0UniSTS
RH11626  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371941,381,426 - 41,381,641UniSTSGRCh37
GRCh371941,349,528 - 41,349,744UniSTSGRCh37
Build 361946,041,368 - 46,041,584RGDNCBI36
Celera1938,181,548 - 38,181,763UniSTS
Celera1938,149,954 - 38,150,170RGD
Cytogenetic Map19q13.2UniSTS
HuRef1937,782,783 - 37,782,999UniSTS
HuRef1937,814,561 - 37,814,776UniSTS
GeneMap99-GB4 RH Map19235.36UniSTS
NCBI RH Map19420.3UniSTS
DXS7515  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371941,383,677 - 41,383,880UniSTSGRCh37
GRCh371941,351,781 - 41,351,984UniSTSGRCh37
Build 361946,043,621 - 46,043,824RGDNCBI36
Celera1938,183,799 - 38,184,002UniSTS
Celera1938,152,207 - 38,152,410RGD
Cytogenetic Map19q13.2UniSTS
HuRef1937,785,036 - 37,785,239UniSTS
HuRef1937,816,812 - 37,817,015UniSTS
Whitehead-YAC Contig MapX UniSTS
RH11716  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map19q13.2UniSTS
GeneMap99-GB4 RH Map19235.36UniSTS
NCBI RH Map19420.3UniSTS


Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system adipose tissue appendage entire extraembryonic component
High 89 89 89
Medium 2 2 284 284 2 284 1 1 1 10 11 2
Low 207 209 342 64 130 51 1147 89 626 26 770 518 14 733 510
Below cutoff 2022 2505 952 171 1119 29 3052 2003 2997 212 557 899 150 466 2219 2

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_008377 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_000762 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC008537 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF182275 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF326721 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK307740 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK309594 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK312964 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC096253 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC096254 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC096255 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC096256 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471126 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068259 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA641580 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EU135979 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  FJ440681 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF459705 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M33318 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U22027 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X06401 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X13897 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X13929 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X13930 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

RefSeq Acc Id: ENST00000301141   ⟹   ENSP00000301141
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1940,843,541 - 40,850,447 (-)Ensembl
RefSeq Acc Id: ENST00000596719
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1940,844,922 - 40,850,440 (-)Ensembl
RefSeq Acc Id: ENST00000599960
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1940,843,541 - 40,844,852 (-)Ensembl
RefSeq Acc Id: ENST00000600495   ⟹   ENSP00000472905
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1940,846,029 - 40,850,447 (-)Ensembl
RefSeq Acc Id: NM_000762   ⟹   NP_000753
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381940,843,541 - 40,850,447 (-)NCBI
GRCh371941,349,441 - 41,356,360 (-)NCBI
Build 361946,041,284 - 46,048,180 (-)NCBI Archive
HuRef1937,782,698 - 37,789,605 (-)ENTREZGENE
CHM1_11941,349,113 - 41,356,113 (-)NCBI
T2T-CHM13v2.01943,664,238 - 43,671,146 (-)NCBI
Sequence:
RefSeq Acc Id: NP_000753   ⟸   NM_000762
- Peptide Label: precursor
- UniProtKB: Q9UCU0 (UniProtKB/Swiss-Prot),   Q9H1Z7 (UniProtKB/Swiss-Prot),   Q4VAU1 (UniProtKB/Swiss-Prot),   Q4VAU0 (UniProtKB/Swiss-Prot),   Q4VAT9 (UniProtKB/Swiss-Prot),   Q16803 (UniProtKB/Swiss-Prot),   P10890 (UniProtKB/Swiss-Prot),   P00190 (UniProtKB/Swiss-Prot),   B2R7F6 (UniProtKB/Swiss-Prot),   A7YAE5 (UniProtKB/Swiss-Prot),   Q9UK48 (UniProtKB/Swiss-Prot),   P11509 (UniProtKB/Swiss-Prot),   Q13120 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000472905   ⟸   ENST00000600495
RefSeq Acc Id: ENSP00000301141   ⟸   ENST00000301141

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-P11509-F1-model_v2 AlphaFold P11509 1-494 view protein structure

Promoters
RGD ID:7240031
Promoter ID:EPDNEW_H25761
Type:single initiation site
Name:CYP2A6_1
Description:cytochrome P450 family 2 subfamily A member 6
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
GRCh381940,850,447 - 40,850,507EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:2610 AgrOrtholog
COSMIC CYP2A6 COSMIC
Ensembl Genes ENSG00000255974 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000301141 ENTREZGENE
  ENST00000301141.10 UniProtKB/Swiss-Prot
  ENST00000600495.1 UniProtKB/TrEMBL
Gene3D-CATH 1.10.630.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000255974 GTEx
HGNC ID HGNC:2610 ENTREZGENE
Human Proteome Map CYP2A6 Human Proteome Map
InterPro Cyt_P450 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Cyt_P450_CS UniProtKB/Swiss-Prot
  Cyt_P450_E_grp-I UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Cyt_P450_E_grp-I_CYP2A-like UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Cyt_P450_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:1548 UniProtKB/Swiss-Prot
NCBI Gene 1548 ENTREZGENE
PANTHER CYTOCHROME P450 2A6 UniProtKB/Swiss-Prot
  CYTOCHROME P450 2A7 UniProtKB/TrEMBL
  CYTOCHROME P450 508A4-RELATED UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam p450 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB CYP2A6 RGD, PharmGKB
PRINTS EP450I UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  EP450ICYP2A UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  P450 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE CYTOCHROME_P450 UniProtKB/Swiss-Prot
Superfamily-SCOP SSF48264 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A7YAE5 ENTREZGENE
  B2R7F6 ENTREZGENE
  CP2A6_HUMAN UniProtKB/Swiss-Prot
  M0R2Z4_HUMAN UniProtKB/TrEMBL
  P00190 ENTREZGENE
  P10890 ENTREZGENE
  P11509 ENTREZGENE
  Q13120 ENTREZGENE, UniProtKB/TrEMBL
  Q16803 ENTREZGENE
  Q4VAT9 ENTREZGENE
  Q4VAU0 ENTREZGENE
  Q4VAU1 ENTREZGENE
  Q9H1Z7 ENTREZGENE
  Q9UCU0 ENTREZGENE
  Q9UK48 ENTREZGENE
UniProt Secondary A7YAE5 UniProtKB/Swiss-Prot
  B2R7F6 UniProtKB/Swiss-Prot
  P00190 UniProtKB/Swiss-Prot
  P10890 UniProtKB/Swiss-Prot
  Q16803 UniProtKB/Swiss-Prot
  Q4VAT9 UniProtKB/Swiss-Prot
  Q4VAU0 UniProtKB/Swiss-Prot
  Q4VAU1 UniProtKB/Swiss-Prot
  Q9H1Z7 UniProtKB/Swiss-Prot
  Q9UCU0 UniProtKB/Swiss-Prot
  Q9UK48 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2015-12-15 CYP2A6  cytochrome P450 family 2 subfamily A member 6  CYP2A6  cytochrome P450, family 2, subfamily A, polypeptide 6  Symbol and/or name change 5135510 APPROVED