SLC22A2 (solute carrier family 22 member 2) - Rat Genome Database

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Gene: SLC22A2 (solute carrier family 22 member 2) Homo sapiens
Analyze
Symbol: SLC22A2
Name: solute carrier family 22 member 2
RGD ID: 1342518
HGNC Page HGNC:10966
Description: Enables several functions, including organic cation transmembrane transporter activity; prostaglandin transmembrane transporter activity; and toxin transmembrane transporter activity. Involved in several processes, including carboxylic acid transport; choline transport; and monoamine transport. Acts upstream of or within organic cation transport. Located in apical plasma membrane and basal plasma membrane. Implicated in acute kidney failure.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: hOCT2; MGC32628; OCT2; organic cation transporter (OCT2); organic cation transporter 2; solute carrier family 22 (organic cation transporter), member 2
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
GRCh386160,216,755 - 160,258,821 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl6160,171,061 - 160,277,638 (-)Ensemblhg38GRCh38
GRCh376160,637,787 - 160,679,853 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 366160,557,780 - 160,599,949 (-)NCBIBuild 36Build 36hg18NCBI36
Build 346160,608,201 - 160,650,370NCBI
Celera6161,284,724 - 161,329,224 (-)NCBICelera
Cytogenetic Map6q25.3NCBI
HuRef6158,107,747 - 158,154,417 (-)NCBIHuRef
CHM1_16160,900,027 - 160,942,556 (-)NCBICHM1_1
T2T-CHM13v2.06161,462,946 - 161,508,769 (-)NCBIT2T-CHM13v2.0
JBrowse:




Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(+)-artemisinin  (EXP)
(+)-pilocarpine  (EXP)
(-)-noscapine  (EXP)
(-)-selegiline  (EXP)
(E)-thiamethoxam  (EXP)
(R)-carnitine  (ISO)
(S)-atropine  (EXP)
(S)-fenfluramine  (EXP)
(S)-nicotine  (EXP)
1,1'-diethyl-2,2'-cyanine  (EXP)
1,1-dichloroethene  (ISO)
1,3-diphenylguanidine  (EXP)
1-[(4-chlorophenyl)-phenylmethyl]-4-methyl-1,4-diazepane  (EXP)
1-\{2-[(4-chlorobenzyl)sulfanyl]-2-(2,4-dichlorophenyl)ethyl\}-1H-imidazole  (EXP)
1-methyl-4-phenyl-1,2,3,6-tetrahydropyridine  (ISO)
1-methylnicotinamide  (EXP)
1-naphthyl isothiocyanate  (ISO)
11-deoxycorticosterone  (ISO)
17alpha-ethynylestradiol  (ISO)
17alpha-hydroxyprogesterone  (EXP)
17beta-estradiol  (ISO)
2-(1-naphthalenylmethyl)-4,5-dihydro-1H-imidazole  (EXP)
2-(3,4-dimethoxyphenyl)-5-\{[2-(3,4-dimethoxyphenyl)ethyl](methyl)amino\}-2-(propan-2-yl)pentanenitrile  (EXP,ISO)
2-[cyclohexyl(oxo)methyl]-3,6,7,11b-tetrahydro-1H-pyrazino[2,1-a]isoquinolin-4-one  (EXP)
2-Amino-3-methyl-9H-pyrido[2,3-b]indole  (EXP)
2-Amino-9H-pyrido[2,3-b]indole  (EXP)
2-hydroxy-2,2-diphenylacetic acid (1,1-dimethyl-3-piperidin-1-iumyl) ester  (EXP)
2-hydroxy-2,2-diphenylacetic acid (1-methyl-1-azoniabicyclo[2.2.2]octan-3-yl) ester  (EXP)
2-methyl-1-(4-methylphenyl)-3-(1-piperidinyl)-1-propanone  (EXP)
3'-amino-3'-deoxy-N(6),N(6)-dimethyladenosine  (ISO)
3,3',4',5-tetrachlorosalicylanilide  (EXP)
3,3',5,5'-tetrabromobisphenol A  (EXP)
3,4,8-Trimethyl-1H,2H,3H-imidazo[4,5-F]quinoxalin-2-imine  (EXP)
3,4-dimethoxybenzoic acid 4-[ethyl-[1-(4-methoxyphenyl)propan-2-yl]amino]butyl ester  (EXP)
3-[2-(ethylamino)-1-hydroxyethyl]phenol  (EXP)
3-Amino-1-methyl-5H-pyrido[4,3-b]indole  (EXP)
3-chloropropane-1,2-diol  (ISO)
4,4'-diaminodiphenylmethane  (ISO)
4,4'-sulfonyldiphenol  (EXP)
4-(1-pyrrolidinyl)-1-(2,4,6-trimethoxyphenyl)-1-butanone  (EXP)
4-[1-hydroxy-2-(4-phenylbutan-2-ylamino)propyl]phenol  (EXP)
4-[6-(diaminomethylideneamino)-1-oxohexoxy]benzoic acid ethyl ester  (EXP)
4-amino-5-chloro-2-methoxy-N-[1-(phenylmethyl)-4-piperidinyl]benzamide  (EXP)
4-amino-5-chloro-N-[1-[3-(4-fluorophenoxy)propyl]-3-methoxy-4-piperidinyl]-2-methoxybenzamide  (EXP)
5-azaorotic acid  (ISO)
5-methoxy-2-\{[(4-methoxy-3,5-dimethylpyridin-2-yl)methyl]sulfinyl\}-1H-benzimidazole  (EXP)
6-propyl-2-thiouracil  (ISO)
9-aminoacridine  (EXP)
[2,8-bis(trifluoromethyl)quinolin-4-yl]-(2-piperidyl)methanol  (EXP)
AB-Fubinaca  (EXP)
acetamiprid  (EXP)
acetylsalicylic acid  (EXP)
aclacinomycin A  (EXP)
aconitine  (EXP)
adapalene  (EXP)
adrenosterone  (EXP)
aflatoxin B1  (EXP)
all-trans-retinoic acid  (EXP)
allopurinol  (ISO)
alprazolam  (EXP)
alprenolol  (EXP)
amiloride  (EXP)
amitraz  (EXP)
amitriptyline  (EXP)
ammonium chloride  (ISO)
anastrozole  (EXP)
androsterone  (EXP)
angelicin  (ISO)
antazoline  (EXP)
apomorphine  (EXP)
aristolochic acids  (ISO)
atrazine  (ISO)
atropine  (EXP)
auranofin  (EXP)
azelastine  (EXP)
azithromycin  (EXP)
bazedoxifene  (EXP)
beclomethasone  (EXP)
benzatropine  (EXP)
benzethonium chloride  (EXP)
benzo[a]pyrene  (EXP,ISO)
beta-carboline  (EXP)
bisoprolol  (EXP)
bisphenol A  (EXP,ISO)
bisphenol F  (EXP)
bithionol  (EXP)
bopindolol  (EXP)
bretylium tosylate  (EXP)
brilliant green  (EXP)
brimonidine tartrate  (EXP)
bromhexine  (EXP)
brompheniramine  (EXP)
budesonide  (EXP)
bupropion  (EXP)
buspirone  (EXP)
butenafine  (EXP)
Butylparaben  (EXP)
butylscopolamine bromide  (EXP)
cadmium dichloride  (ISO)
capsaicin  (EXP)
carbinoxamine  (EXP)
carvedilol  (EXP)
CGP 52608  (EXP)
chlorhexidine  (EXP)
Chlormadinone acetate  (EXP)
chlorogenic acid  (ISO)
chloroquine  (EXP)
chlorphenamine  (EXP,ISO)
chlorphenesin carbamate  (EXP)
chlorpromazine  (EXP)
chlorpyrifos  (EXP)
ciguatoxin CTX1B  (ISO)
cilostazol  (EXP)
cimetidine  (EXP,ISO)
cisapride  (EXP)
cisplatin  (EXP,ISO)
clidinium  (EXP)
clomacran  (EXP)
clomipramine  (EXP)
clonidine  (EXP)
clonidine (amino form)  (EXP)
clonidine (imino form)  (EXP)
clorprenaline  (EXP)
clothianidin  (EXP)
clozapine  (EXP)
corticosterone  (ISO)
cortisol  (EXP)
cortisone  (EXP)
crystal violet  (EXP)
cyclobenzaprine  (EXP)
cyclosporin A  (ISO)
cyproheptadine  (EXP)
cyromazine  (EXP)
decabromodiphenyl ether  (ISO)
dequalinium  (EXP)
desipramine  (EXP)
desloratadine  (EXP)
desoximetasone  (EXP)
dexbrompheniramine  (EXP)
dexchlorpheniramine  (EXP)
dextromethorphan  (EXP)
dextropropoxyphene  (EXP)
diazepam  (EXP)
dibenzofurans  (ISO)
dichlorine  (ISO)
dicyclomine  (EXP)
digitonin  (EXP)
dimenhydrinate  (EXP)
dimethyl-(phenylmethyl)-[2-[2-[4-(2,4,4-trimethylpentan-2-yl)phenoxy]ethoxy]ethyl]ammonium  (EXP)
dioxygen  (ISO)
diphenhydramine  (EXP)
diphenidol  (EXP)
dipyridamole  (EXP)
disodium selenite  (EXP)
disopyramide  (EXP,ISO)
domperidone  (EXP)
donepezil hydrochloride  (EXP)
dopamine  (ISO)
doxazosin  (EXP)
doxepin  (EXP,ISO)
droperidol  (EXP)
dyclonine  (EXP)
econazole  (EXP)
epalrestat  (EXP)
Eperisone hydrochloride  (EXP)
epinastine  (EXP)
estrone  (EXP)
ethidium  (EXP,ISO)
exemestane  (EXP)
famotidine  (EXP,ISO)
fenitrothion  (EXP)
finasteride  (EXP)
flumazenil  (EXP)
fluorometholone  (EXP)
fluoxetine  (EXP)
fluphenazine  (EXP)
Flurandrenolide  (EXP)
formononetin  (ISO)
fructose  (ISO)
fulvestrant  (EXP)
genistein  (ISO)
gentamycin  (EXP,ISO)
Glu-P-1  (EXP)
Glu-P-2  (EXP)
glycyrrhizinic acid  (EXP)
glyphosate  (ISO)
granisetron  (EXP)
GSK-J4  (EXP)
Guanabenz  (EXP)
Guanfacine  (EXP)
Halcinonide  (EXP)
haloperidol  (EXP)
harman  (EXP)
Homatropine  (EXP)
hydralazine  (EXP)
hydroxyzine  (EXP)
idebenone  (EXP)
imidacloprid  (EXP)
imipramine  (EXP)
imperatorin  (ISO)
indapamide  (EXP)
indometacin  (EXP)
ipratropium  (EXP)
isoimperatorin  (ISO)
Isopropamide iodide  (EXP)
kainic acid  (EXP)
ketotifen  (EXP)
L-744832  (EXP)
Lafutidine  (EXP)
lamivudine  (EXP)
lansoprazole  (EXP)
letrozole  (EXP)
leuprolide  (EXP)
Licochalcone B  (EXP)
lidocaine  (EXP)
lisuride  (EXP)
loperamide  (EXP)
lysergol  (EXP)
malathion  (EXP)
maneb  (ISO)
mangiferin  (ISO)
Maprotiline  (EXP)
mechlorethamine  (EXP)
medroxyprogesterone  (EXP)
mefloquine  (EXP)
megestrol acetate  (EXP)
MeIQ  (EXP)
MeIQx  (EXP)
melatonin  (EXP,ISO)
Mepenzolate  (EXP)
mepiquat  (ISO)
mepyramine  (EXP)
mercury dichloride  (EXP,ISO)
Mestanolone  (EXP)
metformin  (EXP,ISO)
methoxsalen  (ISO)
methyltestosterone  (EXP)
metoclopramide  (EXP)
metoprolol  (EXP)
mianserin  (EXP)
miconazole  (EXP)
mirtazapine  (EXP)
monobenzone  (EXP)
mosapride citrate dihydrate  (EXP)
Moxonidine  (EXP)
mycophenolic acid  (EXP)
myrtecaine  (EXP)
N,N-diethyl-m-toluamide  (ISO)
N-methyl-4-phenylpyridinium  (EXP,ISO)
N1'-[2-[[5-[(dimethylamino)methyl]-2-furanyl]methylthio]ethyl]-N1-methyl-2-nitroethene-1,1-diamine  (EXP,ISO)
nalbuphine  (EXP)
nandrolone  (EXP)
naphthalene  (ISO)
naproxen  (EXP)
nefazodone  (EXP)
nicardipine  (EXP)
nicotine  (EXP)
Nifekalant  (EXP)
nimetazepam  (EXP)
nitenpyram  (EXP)
nocodazole  (EXP)
norethisterone  (EXP)
norfloxacin  (EXP)
nortriptyline  (EXP)
ochratoxin A  (ISO)
olanzapine  (EXP)
omeprazole  (EXP)
Ondansetron  (EXP,ISO)
orlistat  (EXP)
orphenadrine  (EXP)
oxaliplatin  (EXP)
oxatomide  (EXP)
oxiconazole  (EXP)
oxybuprocaine  (EXP)
oxybutynin  (EXP)
oxymetazoline  (EXP)
oxymetholone  (EXP)
ozone  (ISO)
p-aminohippuric acid  (EXP)
paraquat  (EXP,ISO)
paroxetine  (EXP)
parthenolide  (EXP)
pecazine  (EXP)
pentamidine  (EXP)
perfluorodecalin  (EXP)
perfluorohexanesulfonic acid  (EXP,ISO)
perfluorooctane-1-sulfonic acid  (EXP)
perfluorooctanoic acid  (EXP)
pergolide  (EXP)
perhexiline  (EXP)
permethrin  (ISO)
perphenazine  (EXP)
Phenelzine  (EXP)
phenformin  (EXP)
Phenoxybenzamine  (EXP)
phentolamine  (EXP)
phenyltoloxamine  (EXP)
PhIP  (EXP)
pioglitazone  (EXP)
Piracetam  (EXP)
piroxicam  (EXP)
Potassium 2,6-dihydroxytriazinecarboxylate  (ISO)
pralidoxime  (EXP)
prazosin  (EXP)
prednisone  (EXP)
pridinol  (EXP)
primaquine  (EXP)
prinomastat  (EXP)
probenecid  (ISO)
procyclidine  (EXP)
progesterone  (ISO)
promazine  (EXP)
Propantheline  (EXP)
Proparacaine  (EXP)
propranolol  (EXP)
psoralen  (ISO)
pyrimethamine  (EXP)
quercetin  (ISO)
quinidine  (EXP)
quinine  (EXP)
rabeprazole  (EXP)
raloxifene  (EXP)
ranitidine  (EXP,ISO)
resveratrol  (EXP)
rutin  (ISO)
semustine  (EXP)
sildenafil citrate  (EXP)
sodium arsenite  (ISO)
sodium dichromate  (ISO)
sparteine  (EXP)
spiperone  (EXP)
spironolactone  (EXP)
streptozocin  (ISO)
strychnine  (EXP)
sulconazole  (EXP)
sulindac  (EXP)
tacrine  (EXP)
Tegafur  (EXP)
telmisartan  (EXP)
terbutaline  (EXP)
terconazole  (EXP)
testosterone  (ISO)
tetracaine  (EXP)
tetrachloromethane  (ISO)
tetraethylammonium  (EXP,ISO)
tetrahydropalmatine  (EXP)
tetryzoline  (EXP)
thalidomide  (EXP)
thiacloprid  (EXP)
thiamethoxam  (EXP)
thioridazine  (EXP)
tolazoline  (EXP)
tolterodine tartrate  (EXP)
trazodone  (EXP)
triamcinolone acetonide  (EXP)
triazolam  (EXP)
Trihexyphenidyl  (EXP)
trimellitic anhydride  (ISO)
trimipramine  (EXP)
Tripelennamine  (EXP)
tropan-3alpha-yl 3-hydroxy-2-phenylpropanoate  (EXP)
tropisetron  (EXP)
trospium chloride  (EXP)
valdecoxib  (EXP)
valproic acid  (EXP)
vancomycin  (ISO)
varenicline  (EXP)
verapamil  (EXP,ISO)
VX-745  (EXP)
Xylometazoline  (EXP)
zafirlukast  (EXP)
zolpidem  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

References

References - curated
# Reference Title Reference Citation
1. Membrane transporters as mediators of Cisplatin effects and side effects. Ciarimboli G Scientifica (Cairo). 2012;2012:473829. doi: 10.6064/2012/473829. Epub 2012 Nov 25.
2. Contribution of organic cation transporter 2 (OCT2) to cisplatin-induced nephrotoxicity. Filipski KK, etal., Clin Pharmacol Ther. 2009 Oct;86(4):396-402. doi: 10.1038/clpt.2009.139. Epub 2009 Jul 22.
3. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
4. Metformin pathways: pharmacokinetics and pharmacodynamics. Gong L, etal., Pharmacogenet Genomics. 2012 Nov;22(11):820-7. doi: 10.1097/FPC.0b013e3283559b22.
5. Restored expression and activity of organic ion transporters rOAT1, rOAT3 and rOCT2 after hyperuricemia in the rat kidney. Habu Y, etal., Biochem Pharmacol. 2005 Mar 15;69(6):993-9.
6. Nitric oxide down-regulates the expression of organic cation transporters (OCT) 1 and 2 in rat kidney during endotoxemia. Heemskerk S, etal., Eur J Pharmacol. 2008 Apr 28;584(2-3):390-7. doi: 10.1016/j.ejphar.2008.02.006. Epub 2008 Feb 12.
7. Quercetin regulates organic ion transporter and uromodulin expression and improves renal function in hyperuricemic mice. Hu QH, etal., Eur J Nutr. 2012 Aug;51(5):593-606. doi: 10.1007/s00394-011-0243-y. Epub 2011 Sep 10.
8. Down-regulation of rat organic cation transporter rOCT2 by 5/6 nephrectomy. Ji L, etal., Kidney Int. 2002 Aug;62(2):514-24.
9. Reduced antidiabetic effect of metformin and down-regulation of hepatic Oct1 in rats with ethynylestradiol-induced cholestasis. Jin HE, etal., Pharm Res. 2009 Mar;26(3):549-59. doi: 10.1007/s11095-008-9770-5. Epub 2008 Nov 11.
10. Renal uptake of substrates for organic anion transporters Oat1 and Oat3 and organic cation transporters Oct1 and Oct2 is altered in rats with adenine-induced chronic renal failure. Komazawa H, etal., J Pharm Sci. 2013 Mar;102(3):1086-94. doi: 10.1002/jps.23433. Epub 2012 Dec 29.
11. Elevated systemic elimination of cimetidine in rats with acute biliary obstruction: the role of renal organic cation transporter OCT2. Kurata T, etal., Drug Metab Pharmacokinet. 2010;25(4):328-34.
12. Aristolochic acid-induced destruction of organic ion transporters and fatty acid metabolic disorder in the kidney of rats. Lou Y, etal., Toxicol Lett. 2011 Feb 25;201(1):72-9. doi: 10.1016/j.toxlet.2010.12.007. Epub 2010 Dec 15.
13. Regulation of renal organic ion transporters in cisplatin-induced acute kidney injury and uremia in rats. Morisaki T, etal., Pharm Res. 2008 Nov;25(11):2526-33. doi: 10.1007/s11095-008-9668-2. Epub 2008 Jul 9.
14. Renal and hepatic transporter expression in type 2 diabetic rats. Nowicki MT, etal., Drug Metab Lett. 2008 Jan;2(1):11-7.
15. SMPDB Annotation Import Pipeline Pipeline to import SMPDB annotations from SMPDB into RGD
16. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
17. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
18. Nitric oxide-induced regulation of renal organic cation transport after renal ischemia-reperfusion injury. Schneider R, etal., Am J Physiol Renal Physiol. 2011 Nov;301(5):F997-F1004. doi: 10.1152/ajprenal.00264.2011. Epub 2011 Aug 10.
19. Regulation of renal organic anion and cation transporters by thymoquinone in cisplatin induced kidney injury. Ulu R, etal., Food Chem Toxicol. 2012 May;50(5):1675-9. doi: 10.1016/j.fct.2012.02.082. Epub 2012 Mar 3.
20. Mulberroside a possesses potent uricosuric and nephroprotective effects in hyperuricemic mice. Wang CP, etal., Planta Med. 2011 May;77(8):786-94. doi: 10.1055/s-0030-1250599. Epub 2010 Dec 10.
21. Renal tumours in a Tsc1(+)/(-) mouse model show epigenetic suppression of organic cation transporters Slc22a1, Slc22a2 and Slc22a3, and do not respond to metformin. Yang J, etal., Eur J Cancer. 2013 Apr;49(6):1479-90. doi: 10.1016/j.ejca.2012.10.027. Epub 2012 Dec 7.
Additional References at PubMed
PMID:9260930   PMID:9605850   PMID:9687576   PMID:9933568   PMID:10942111   PMID:11447227   PMID:11483518   PMID:11907186   PMID:11953440   PMID:12089365   PMID:12142729   PMID:12388397  
PMID:12395288   PMID:12477932   PMID:12538837   PMID:15135235   PMID:15212162   PMID:15499192   PMID:15817714   PMID:16024787   PMID:16141367   PMID:16314463   PMID:16368738   PMID:16394027  
PMID:16513443   PMID:16581093   PMID:16951202   PMID:16990275   PMID:17060063   PMID:17072098   PMID:17111267   PMID:17220237   PMID:17393420   PMID:17460754   PMID:17495125   PMID:17971819  
PMID:18029348   PMID:18401339   PMID:18414781   PMID:18508876   PMID:18551044   PMID:18559608   PMID:18728938   PMID:19056867   PMID:19141712   PMID:19343046   PMID:19483665   PMID:19536068  
PMID:19833842   PMID:19913121   PMID:20053795   PMID:20067471   PMID:20173083   PMID:20371711   PMID:20383145   PMID:20383146   PMID:20429798   PMID:20477935   PMID:20628086   PMID:20679960  
PMID:20682687   PMID:21128598   PMID:21346370   PMID:21553234   PMID:21873635   PMID:21988832   PMID:22085643   PMID:22223530   PMID:22483271   PMID:22525860   PMID:22569819   PMID:22573376  
PMID:22590580   PMID:22735389   PMID:22806583   PMID:22875535   PMID:22913740   PMID:23137377   PMID:23341218   PMID:23424657   PMID:23545524   PMID:23630107   PMID:23776246   PMID:23864433  
PMID:24102360   PMID:24291757   PMID:24427340   PMID:24530383   PMID:24533710   PMID:24643204   PMID:24816252   PMID:24961373   PMID:25019617   PMID:25143296   PMID:25573751   PMID:25662675  
PMID:25823781   PMID:25883089   PMID:26590417   PMID:26674735   PMID:27178732   PMID:27319306   PMID:27590272   PMID:27609360   PMID:27828777   PMID:28414026   PMID:28714373   PMID:28767196  
PMID:28992563   PMID:29236753   PMID:29624501   PMID:29794161   PMID:29987050   PMID:30120945   PMID:30168369   PMID:30280653   PMID:30561642   PMID:30910922   PMID:31083486   PMID:31088315  
PMID:31318583   PMID:31586073   PMID:31591331   PMID:31836927   PMID:32149389   PMID:32206108   PMID:33177341   PMID:33581269   PMID:33737618   PMID:33961781   PMID:34502566   PMID:34884730  
PMID:34902340   PMID:35143948   PMID:35163014   PMID:35163393   PMID:35307651   PMID:36331012   PMID:39079530  


Genomics

Comparative Map Data
SLC22A2
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh386160,216,755 - 160,258,821 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl6160,171,061 - 160,277,638 (-)Ensemblhg38GRCh38
GRCh376160,637,787 - 160,679,853 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 366160,557,780 - 160,599,949 (-)NCBIBuild 36Build 36hg18NCBI36
Build 346160,608,201 - 160,650,370NCBI
Celera6161,284,724 - 161,329,224 (-)NCBICelera
Cytogenetic Map6q25.3NCBI
HuRef6158,107,747 - 158,154,417 (-)NCBIHuRef
CHM1_16160,900,027 - 160,942,556 (-)NCBICHM1_1
T2T-CHM13v2.06161,462,946 - 161,508,769 (-)NCBIT2T-CHM13v2.0
Slc22a2
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391712,803,076 - 12,847,376 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1712,803,019 - 12,847,375 (+)EnsemblGRCm39 EnsemblGRCm39
GRCm381712,584,189 - 12,628,489 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1712,584,132 - 12,628,488 (+)Ensemblmm10GRCm38
MGSCv371712,777,055 - 12,821,354 (+)NCBIMGSCv37MGSCv37mm9NCBIm37
MGSCv361712,427,547 - 12,471,846 (+)NCBIMGSCv36mm8
Celera1712,614,783 - 12,660,660 (+)NCBICelera
Cytogenetic Map17A1NCBI
cM Map178.61NCBI
Slc22a2
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8150,668,817 - 50,711,019 (-)NCBIGRCr8GRCr8GRCr8
GRCr8 Ensembl150,668,817 - 50,711,019 (-)EnsemblGRCr8
mRatBN7.2148,121,061 - 48,163,268 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl148,121,061 - 48,163,268 (-)EnsemblmRatBN7.2
UTH_Rnor_SHR_Utx148,812,678 - 48,854,865 (-)NCBIUTH_Rnor_SHR_UtxUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0154,798,480 - 54,840,630 (-)NCBIUTH_Rnor_SHRSP_BbbUtx_1.0UTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0148,888,183 - 48,930,374 (-)NCBIUTH_Rnor_WKY_Bbb_1.0UTH_Rnor_WKY_Bbb_1.0
Rnor_6.0148,318,025 - 48,360,219 (-)NCBIRnor_6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl148,317,995 - 48,360,261 (-)Ensemblrn6Rnor6.0
Rnor_5.0151,394,014 - 51,435,104 (+)NCBIRnor_5.0Rnor_5.0rn5
RGSC_v3.4142,395,676 - 42,442,847 (-)NCBIRGSC_v3.4RGSC_v3.4rn4
Celera143,920,665 - 43,963,268 (-)NCBICelera
RGSC_v3.1142,398,620 - 42,445,782 (-)NCBI
Cytogenetic Map1q11NCBI
Slc22a2
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495543920,567,212 - 20,609,105 (+)Ensembl
ChiLan1.0NW_00495543920,567,241 - 20,608,281 (+)NCBIChiLan1.0ChiLan1.0
SLC22A2
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v25180,320,892 - 180,367,795 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan16178,223,301 - 178,271,798 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v06158,058,226 - 158,150,917 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.16163,066,654 - 163,158,469 (-)NCBIPanPan1.1PanPan1.1panPan2
PanPan1.1 Ensembl6163,065,317 - 163,158,931 (-)EnsemblpanPan2panpan1.1
SLC22A2
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1149,327,621 - 49,348,435 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl149,327,296 - 49,348,435 (-)EnsemblcanFam3CanFam3.1
Dog10K_Boxer_Tasha150,170,589 - 50,191,400 (-)NCBIDog10K_Boxer_TashaDog10K_Boxer_Tasha
ROS_Cfam_1.0149,505,206 - 49,533,863 (-)NCBIROS_Cfam_1.0ROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl149,503,308 - 49,533,595 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1149,395,180 - 49,415,993 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0149,266,805 - 49,288,175 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0149,882,427 - 49,903,195 (-)NCBIUU_Cfam_GSD_1.0UU_Cfam_GSD_1.0
Slc22a2
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024404946144,341,980 - 144,375,967 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_00493648911,594,480 - 11,627,786 (-)EnsemblSpeTri2.0 Ensembl
SpeTri2.0NW_00493648911,605,403 - 11,627,786 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
SLC22A2
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl17,289,831 - 7,323,146 (+)EnsemblsusScr11Sscrofa11.1
Sscrofa11.117,289,278 - 7,323,418 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.218,980,529 - 9,012,013 (-)NCBISscrofa10.2Sscrofa10.2susScr3
SLC22A2
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11387,835,077 - 87,881,410 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl1387,833,430 - 87,881,081 (-)EnsemblChlSab1.1 EnsemblchlSab2Vervet-AGM
Vero_WHO_p1.0NW_02366604060,218,540 - 60,262,523 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Slc22a2
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046248552,623,547 - 2,659,742 (+)EnsemblHetGla_female_1.0 EnsemblhetGla2HetGla_female_1.0 Ensembl
HetGla 1.0NW_0046248552,623,595 - 2,661,739 (+)NCBIHetGla 1.0HetGla 1.0hetGla2

Variants

.
Variants in SLC22A2
53 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 6q24.1-27(chr6:141132990-169339571)x3 copy number gain See cases [RCV000050604] Chr6:141132990..169339571 [GRCh38]
Chr6:141454127..169739666 [GRCh37]
Chr6:141495820..169481591 [NCBI36]
Chr6:6q24.1-27		 pathogenic
GRCh38/hg38 6q25.2-27(chr6:152376338-170583214)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051902]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051902]|See cases [RCV000051902] Chr6:152376338..170583214 [GRCh38]
Chr6:152697473..170892302 [GRCh37]
Chr6:152739166..170734227 [NCBI36]
Chr6:6q25.2-27		 pathogenic
GRCh38/hg38 6q25.3-27(chr6:158664768-170612001)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051904]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051904]|See cases [RCV000051904] Chr6:158664768..170612001 [GRCh38]
Chr6:159085800..170921089 [GRCh37]
Chr6:159005788..170763014 [NCBI36]
Chr6:6q25.3-27		 pathogenic
GRCh38/hg38 6q25.2-27(chr6:154118058-170602152)x1 copy number loss See cases [RCV000052207] Chr6:154118058..170602152 [GRCh38]
Chr6:154439193..170911240 [GRCh37]
Chr6:154480885..170753165 [NCBI36]
Chr6:6q25.2-27		 pathogenic
GRCh38/hg38 6q25.3-27(chr6:159454639-170612001)x1 copy number loss See cases [RCV000052209] Chr6:159454639..170612001 [GRCh38]
Chr6:159875671..170921089 [GRCh37]
Chr6:159795661..170763014 [NCBI36]
Chr6:6q25.3-27		 pathogenic
GRCh38/hg38 6q25.3-27(chr6:159825913-170612001)x1 copy number loss See cases [RCV000052211] Chr6:159825913..170612001 [GRCh38]
Chr6:160246945..170921089 [GRCh37]
Chr6:160166935..170763014 [NCBI36]
Chr6:6q25.3-27		 pathogenic
NM_003058.3(SLC22A2):c.550G>A (p.Val184Ile) single nucleotide variant Malignant melanoma [RCV000067203] Chr6:160250671 [GRCh38]
Chr6:160671703 [GRCh37]
Chr6:160591693 [NCBI36]
Chr6:6q25.3		 not provided
NM_003058.3(SLC22A2):c.39G>A (p.Gly13=) single nucleotide variant Malignant melanoma [RCV000067204] Chr6:160258719 [GRCh38]
Chr6:160679751 [GRCh37]
Chr6:160599741 [NCBI36]
Chr6:6q25.3		 not provided
NM_003058.3(SLC22A2):c.1159G>A (p.Glu387Lys) single nucleotide variant Malignant melanoma [RCV000061343] Chr6:160243692 [GRCh38]
Chr6:160664724 [GRCh37]
Chr6:160584714 [NCBI36]
Chr6:6q25.3		 not provided
GRCh38/hg38 6q25.2-27(chr6:154539655-170714507)x1 copy number loss See cases [RCV000137381] Chr6:154539655..170714507 [GRCh38]
Chr6:154860789..171023595 [GRCh37]
Chr6:154902481..170865520 [NCBI36]
Chr6:6q25.2-27		 pathogenic
GRCh38/hg38 6q25.3-26(chr6:155378049-163133499)x1 copy number loss See cases [RCV000137831] Chr6:155378049..163133499 [GRCh38]
Chr6:155699183..163554531 [GRCh37]
Chr6:155740875..163474521 [NCBI36]
Chr6:6q25.3-26		 pathogenic
GRCh38/hg38 6q25.3-27(chr6:159915390-170714507)x1 copy number loss See cases [RCV000139636] Chr6:159915390..170714507 [GRCh38]
Chr6:160336422..171023595 [GRCh37]
Chr6:160256412..170865520 [NCBI36]
Chr6:6q25.3-27		 pathogenic
GRCh38/hg38 6q25.2-27(chr6:152793402-170610394)x1 copy number loss See cases [RCV000141880] Chr6:152793402..170610394 [GRCh38]
Chr6:153114537..170919482 [GRCh37]
Chr6:153156230..170761407 [NCBI36]
Chr6:6q25.2-27		 pathogenic
GRCh38/hg38 6q25.2-27(chr6:152376338-170612001)x3 copy number gain See cases [RCV000142594] Chr6:152376338..170612001 [GRCh38]
Chr6:152697473..170921089 [GRCh37]
Chr6:152739166..170763014 [NCBI36]
Chr6:6q25.2-27		 pathogenic
GRCh38/hg38 6q23.2-27(chr6:133537271-165875545)x3 copy number gain See cases [RCV000143444] Chr6:133537271..165875545 [GRCh38]
Chr6:133858409..166289033 [GRCh37]
Chr6:133900102..166209023 [NCBI36]
Chr6:6q23.2-27		 pathogenic
GRCh38/hg38 6q25.3-26(chr6:158585724-160899783)x3 copy number gain See cases [RCV000143618] Chr6:158585724..160899783 [GRCh38]
Chr6:159006756..161320815 [GRCh37]
Chr6:158926744..161240805 [NCBI36]
Chr6:6q25.3-26		 uncertain significance
GRCh37/hg19 6q25.1-27(chr6:151214792-170892243)x3 copy number gain See cases [RCV000449011] Chr6:151214792..170892243 [GRCh37]
Chr6:6q25.1-27		 pathogenic
GRCh37/hg19 6q25.3-27(chr6:159006336-170713678)x3 copy number gain not provided [RCV003312672] Chr6:159006336..170713678 [GRCh37]
Chr6:6q25.3-27		 uncertain significance
GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)x3 copy number gain See cases [RCV000512067] Chr6:156975..170919482 [GRCh37]
Chr6:6p25.3-q27		 pathogenic
GRCh37/hg19 6p25.3-q27(chr6:156975-170919482) copy number gain See cases [RCV000510595] Chr6:156975..170919482 [GRCh37]
Chr6:6p25.3-q27		 pathogenic
NM_003058.4(SLC22A2):c.373G>A (p.Gly125Ser) single nucleotide variant not specified [RCV004297183] Chr6:160258385 [GRCh38]
Chr6:160679417 [GRCh37]
Chr6:6q25.3		 uncertain significance
NM_003058.4(SLC22A2):c.434A>G (p.Asn145Ser) single nucleotide variant not specified [RCV004297550] Chr6:160256698 [GRCh38]
Chr6:160677730 [GRCh37]
Chr6:6q25.3		 uncertain significance
GRCh37/hg19 6q25.3-27(chr6:159844762-170919482)x3 copy number gain not provided [RCV000682734] Chr6:159844762..170919482 [GRCh37]
Chr6:6q25.3-27		 pathogenic
GRCh37/hg19 6q25.3-26(chr6:160524800-161855470)x3 copy number gain not provided [RCV000682735] Chr6:160524800..161855470 [GRCh37]
Chr6:6q25.3-26		 uncertain significance
46,XX,der(6)(q25.1,q28)dn.seq[GRCh37/hg19]der(6)(6pter->6q25.2(+)(154768571)::q25.2(+)(154778901),q25.2(+)154778992::q25.2(-)(154774048),q25.2(-)(154768571)::q25.2(-)(154768571),q25.1(-)(~151443183-151443483))dn complex Coffin-Siris syndrome 1 [RCV000714957] Chr6:151443333..171115067 [GRCh37]
Chr6:6q25.1-27		 pathogenic
GRCh37/hg19 6p25.3-q27(chr6:60107-171054786)x3 copy number gain not provided [RCV000745400] Chr6:60107..171054786 [GRCh37]
Chr6:6p25.3-q27		 pathogenic
GRCh37/hg19 6p25.3-q27(chr6:165632-170919470)x3 copy number gain not provided [RCV000745404] Chr6:165632..170919470 [GRCh37]
Chr6:6p25.3-q27		 pathogenic
GRCh37/hg19 6p25.3-q27(chr6:108666-170980171)x3 copy number gain not provided [RCV000745403] Chr6:108666..170980171 [GRCh37]
Chr6:6p25.3-q27		 pathogenic
GRCh37/hg19 6q25.1-27(chr6:150284435-170919470)x3 copy number gain not provided [RCV000746100] Chr6:150284435..170919470 [GRCh37]
Chr6:6q25.1-27		 pathogenic
GRCh37/hg19 6q25.3-27(chr6:159155998-171054786)x3 copy number gain not provided [RCV000746132] Chr6:159155998..171054786 [GRCh37]
Chr6:6q25.3-27		 pathogenic
GRCh37/hg19 6q25.3(chr6:160628053-160638076)x1 copy number loss not provided [RCV000746140] Chr6:160628053..160638076 [GRCh37]
Chr6:6q25.3		 benign
GRCh37/hg19 6q25.3(chr6:157262571-160992289)x3 copy number gain not provided [RCV000848057] Chr6:157262571..160992289 [GRCh37]
Chr6:6q25.3		 uncertain significance
NM_003058.4(SLC22A2):c.1575C>A (p.Thr525=) single nucleotide variant not provided [RCV000954671] Chr6:160224731 [GRCh38]
Chr6:160645763 [GRCh37]
Chr6:6q25.3		 benign
NM_003058.4(SLC22A2):c.1194C>T (p.Ile398=) single nucleotide variant not provided [RCV000915381] Chr6:160243657 [GRCh38]
Chr6:160664689 [GRCh37]
Chr6:6q25.3		 likely benign
GRCh37/hg19 6q25.3(chr6:160587123-160666378)x1 copy number loss not provided [RCV001005866] Chr6:160587123..160666378 [GRCh37]
Chr6:6q25.3		 uncertain significance
GRCh37/hg19 6q25.3(chr6:160593076-160644511)x1 copy number loss not provided [RCV001258755] Chr6:160593076..160644511 [GRCh37]
Chr6:6q25.3		 uncertain significance
NC_000006.11:g.(?_158532398)_(162868359_?)del deletion 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome [RCV003122912]|not provided [RCV003122911] Chr6:158532398..162868359 [GRCh37]
Chr6:6q25.3-26		 pathogenic|no classifications from unflagged records
GRCh37/hg19 6q25.3-27(chr6:157318401-165233548)x1 copy number loss See cases [RCV002287557] Chr6:157318401..165233548 [GRCh37]
Chr6:6q25.3-27		 pathogenic
NM_003058.4(SLC22A2):c.472G>A (p.Val158Ile) single nucleotide variant not specified [RCV004087376] Chr6:160256660 [GRCh38]
Chr6:160677692 [GRCh37]
Chr6:6q25.3		 uncertain significance
NM_003058.4(SLC22A2):c.958C>T (p.Arg320Cys) single nucleotide variant not specified [RCV004195921] Chr6:160245545 [GRCh38]
Chr6:160666577 [GRCh37]
Chr6:6q25.3		 uncertain significance
NM_003058.4(SLC22A2):c.1144T>G (p.Tyr382Asp) single nucleotide variant not specified [RCV004154918] Chr6:160243707 [GRCh38]
Chr6:160664739 [GRCh37]
Chr6:6q25.3		 uncertain significance
NM_003058.4(SLC22A2):c.362C>G (p.Pro121Arg) single nucleotide variant not specified [RCV004236266] Chr6:160258396 [GRCh38]
Chr6:160679428 [GRCh37]
Chr6:6q25.3		 uncertain significance
NM_003058.4(SLC22A2):c.1415C>T (p.Ser472Leu) single nucleotide variant not specified [RCV004164510] Chr6:160241560 [GRCh38]
Chr6:160662592 [GRCh37]
Chr6:6q25.3		 uncertain significance
NM_003058.4(SLC22A2):c.1105A>G (p.Met369Val) single nucleotide variant not specified [RCV004118746] Chr6:160243746 [GRCh38]
Chr6:160664778 [GRCh37]
Chr6:6q25.3		 uncertain significance
NM_003058.4(SLC22A2):c.1390A>G (p.Asn464Asp) single nucleotide variant not specified [RCV004236972] Chr6:160241585 [GRCh38]
Chr6:160662617 [GRCh37]
Chr6:6q25.3		 uncertain significance
NM_003058.4(SLC22A2):c.1276G>A (p.Gly426Ser) single nucleotide variant not specified [RCV004109453] Chr6:160243575 [GRCh38]
Chr6:160664607 [GRCh37]
Chr6:6q25.3		 uncertain significance
NM_003058.4(SLC22A2):c.271C>T (p.Arg91Cys) single nucleotide variant not specified [RCV004224158] Chr6:160258487 [GRCh38]
Chr6:160679519 [GRCh37]
Chr6:6q25.3		 uncertain significance
NM_003058.4(SLC22A2):c.680A>C (p.Glu227Ala) single nucleotide variant not specified [RCV004235221] Chr6:160249378 [GRCh38]
Chr6:160670410 [GRCh37]
Chr6:6q25.3		 uncertain significance
NM_003058.4(SLC22A2):c.185G>A (p.Arg62His) single nucleotide variant not specified [RCV004261175] Chr6:160258573 [GRCh38]
Chr6:160679605 [GRCh37]
Chr6:6q25.3		 uncertain significance
NM_003058.4(SLC22A2):c.1572G>C (p.Glu524Asp) single nucleotide variant not specified [RCV004262433] Chr6:160224734 [GRCh38]
Chr6:160645766 [GRCh37]
Chr6:6q25.3		 uncertain significance
NM_003058.4(SLC22A2):c.959G>A (p.Arg320His) single nucleotide variant not specified [RCV004262145] Chr6:160245544 [GRCh38]
Chr6:160666576 [GRCh37]
Chr6:6q25.3		 uncertain significance
NM_003058.4(SLC22A2):c.740T>C (p.Val247Ala) single nucleotide variant not specified [RCV004249428] Chr6:160249318 [GRCh38]
Chr6:160670350 [GRCh37]
Chr6:6q25.3		 uncertain significance
NM_003058.4(SLC22A2):c.1118G>A (p.Gly373Asp) single nucleotide variant not specified [RCV004273009] Chr6:160243733 [GRCh38]
Chr6:160664765 [GRCh37]
Chr6:6q25.3		 uncertain significance
NM_003058.4(SLC22A2):c.691C>T (p.Arg231Trp) single nucleotide variant not specified [RCV004277830] Chr6:160249367 [GRCh38]
Chr6:160670399 [GRCh37]
Chr6:6q25.3		 uncertain significance
NM_003058.4(SLC22A2):c.215A>C (p.Asn72Thr) single nucleotide variant not specified [RCV004335079] Chr6:160258543 [GRCh38]
Chr6:160679575 [GRCh37]
Chr6:6q25.3		 uncertain significance
GRCh37/hg19 6q25.2-27(chr6:152853218-170914297)x1 copy number loss See cases [RCV004442824] Chr6:152853218..170914297 [GRCh37]
Chr6:6q25.2-27		 pathogenic
NM_003058.4(SLC22A2):c.580A>G (p.Met194Val) single nucleotide variant not specified [RCV004448803] Chr6:160250641 [GRCh38]
Chr6:160671673 [GRCh37]
Chr6:6q25.3		 uncertain significance
NM_003058.4(SLC22A2):c.908T>G (p.Ile303Ser) single nucleotide variant not specified [RCV004857164] Chr6:160247233 [GRCh38]
Chr6:160668265 [GRCh37]
Chr6:6q25.3		 uncertain significance
GRCh37/hg19 6q24.2-27(chr6:144561123-170919482)x3 copy number gain not provided [RCV004819303] Chr6:144561123..170919482 [GRCh37]
Chr6:6q24.2-27		 pathogenic
GRCh37/hg19 6q25.3-27(chr6:158471960-170919482)x1 copy number loss not provided [RCV004819350] Chr6:158471960..170919482 [GRCh37]
Chr6:6q25.3-27		 pathogenic
NM_003058.4(SLC22A2):c.271C>A (p.Arg91Ser) single nucleotide variant not specified [RCV005268503] Chr6:160258487 [GRCh38]
Chr6:160679519 [GRCh37]
Chr6:6q25.3		 uncertain significance
NM_003058.4(SLC22A2):c.1369C>G (p.Leu457Val) single nucleotide variant not specified [RCV005281990] Chr6:160242313 [GRCh38]
Chr6:160663345 [GRCh37]
Chr6:6q25.3		 uncertain significance
GRCh37/hg19 6q25.2-26(chr6:153207930-164322346) copy number loss not specified [RCV002053640] Chr6:153207930..164322346 [GRCh37]
Chr6:6q25.2-26		 pathogenic
GRCh37/hg19 6q25.3-27(chr6:159121459-170919482) copy number loss Hydrocephalus [RCV002280751] Chr6:159121459..170919482 [GRCh37]
Chr6:6q25.3-27		 pathogenic
NM_003058.4(SLC22A2):c.818A>T (p.Asn273Ile) single nucleotide variant not specified [RCV004159042] Chr6:160249240 [GRCh38]
Chr6:160670272 [GRCh37]
Chr6:6q25.3		 uncertain significance
NM_003058.4(SLC22A2):c.245G>A (p.Gly82Asp) single nucleotide variant not specified [RCV004172012] Chr6:160258513 [GRCh38]
Chr6:160679545 [GRCh37]
Chr6:6q25.3		 uncertain significance
NM_003058.4(SLC22A2):c.1203C>T (p.Ile401=) single nucleotide variant not provided [RCV003429033] Chr6:160243648 [GRCh38]
Chr6:160664680 [GRCh37]
Chr6:6q25.3		 likely benign
NM_003058.4(SLC22A2):c.772G>A (p.Ala258Thr) single nucleotide variant not specified [RCV004448804] Chr6:160249286 [GRCh38]
Chr6:160670318 [GRCh37]
Chr6:6q25.3		 uncertain significance
NM_003058.4(SLC22A2):c.91G>A (p.Ala31Thr) single nucleotide variant not specified [RCV004672231] Chr6:160258667 [GRCh38]
Chr6:160679699 [GRCh37]
Chr6:6q25.3		 uncertain significance
NM_003058.4(SLC22A2):c.217T>C (p.Tyr73His) single nucleotide variant not specified [RCV004672232] Chr6:160258541 [GRCh38]
Chr6:160679573 [GRCh37]
Chr6:6q25.3		 uncertain significance
NM_003058.4(SLC22A2):c.692G>A (p.Arg231Gln) single nucleotide variant not specified [RCV004672233] Chr6:160249366 [GRCh38]
Chr6:160670398 [GRCh37]
Chr6:6q25.3		 uncertain significance
NM_003058.4(SLC22A2):c.938C>T (p.Ser313Phe) single nucleotide variant not specified [RCV004672234] Chr6:160247203 [GRCh38]
Chr6:160668235 [GRCh37]
Chr6:6q25.3		 uncertain significance
NM_003058.4(SLC22A2):c.368G>A (p.Arg123Gln) single nucleotide variant not specified [RCV004676579] Chr6:160258390 [GRCh38]
Chr6:160679422 [GRCh37]
Chr6:6q25.3		 likely benign
GRCh37/hg19 6q25.2-27(chr6:153777725-170919482)x1 copy number loss not provided [RCV004819349] Chr6:153777725..170919482 [GRCh37]
Chr6:6q25.2-27		 pathogenic
NM_003058.4(SLC22A2):c.337A>G (p.Asn113Asp) single nucleotide variant not specified [RCV004857159] Chr6:160258421 [GRCh38]
Chr6:160679453 [GRCh37]
Chr6:6q25.3		 uncertain significance
NM_003058.4(SLC22A2):c.946G>A (p.Ala316Thr) single nucleotide variant not specified [RCV004857160] Chr6:160247195 [GRCh38]
Chr6:160668227 [GRCh37]
Chr6:6q25.3		 uncertain significance
NM_003058.4(SLC22A2):c.991T>G (p.Leu331Val) single nucleotide variant not specified [RCV004857161] Chr6:160245512 [GRCh38]
Chr6:160666544 [GRCh37]
Chr6:6q25.3		 uncertain significance
NM_003058.4(SLC22A2):c.1234A>G (p.Met412Val) single nucleotide variant not specified [RCV004857162] Chr6:160243617 [GRCh38]
Chr6:160664649 [GRCh37]
Chr6:6q25.3		 uncertain significance
NM_003058.4(SLC22A2):c.1493T>C (p.Met498Thr) single nucleotide variant not specified [RCV005281988] Chr6:160241482 [GRCh38]
Chr6:160662514 [GRCh37]
Chr6:6q25.3		 uncertain significance
NM_003058.4(SLC22A2):c.1195G>A (p.Asp399Asn) single nucleotide variant not specified [RCV005281989] Chr6:160243656 [GRCh38]
Chr6:160664688 [GRCh37]
Chr6:6q25.3		 uncertain significance
miRNA Target Status (No longer updated)

Predicted Target Of
Summary Value
Count of predictions:1012
Count of miRNA genes:682
Interacting mature miRNAs:761
Transcripts:ENST00000366952, ENST00000366953, ENST00000486916, ENST00000489644, ENST00000491092, ENST00000498556
Prediction methods: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
597140949GWAS1237023_HX-12798-to-phenylalanine ratio QTL GWAS1237023 (human)3e-286X-12798-to-phenylalanine ratio6160248049160248050Human
597186331GWAS1282405_HX-12798 measurement QTL GWAS1282405 (human)2e-438X-12798 measurement6160249250160249251Human
597256017GWAS1352091_Htotal cholesterol measurement QTL GWAS1352091 (human)6e-10blood cholesterol amount (VT:0000180)blood total cholesterol level (CMO:0000051)6160225190160225191Human
597254800GWAS1350874_Hapolipoprotein B measurement QTL GWAS1350874 (human)8e-15apolipoprotein B measurementblood apoliprotein B level (CMO:0000522)6160258368160258369Human
596975198GWAS1094717_Hmyocardial infarction QTL GWAS1094717 (human)5e-09myocardial infarction6160241878160241879Human
597349398GWAS1445472_HAbdominal Aortic Aneurysm QTL GWAS1445472 (human)3e-08aorta integrity trait (VT:0010602)6160257359160257360Human
597243158GWAS1339232_Hlipoprotein A measurement QTL GWAS1339232 (human)1e-209lipoprotein A measurement6160258624160258626Human
597186760GWAS1282834_HN1-methyladenosine measurement QTL GWAS1282834 (human)8e-11N1-methyladenosine measurement6160246568160246569Human
597321546GWAS1417620_HX-12798 measurement QTL GWAS1417620 (human)2e-964X-12798 measurement6160249250160249251Human
597219848GWAS1315922_Htotal cholesterol measurement QTL GWAS1315922 (human)8e-13blood cholesterol amount (VT:0000180)blood total cholesterol level (CMO:0000051)6160258368160258369Human
597320904GWAS1416978_Hmetabolite measurement QTL GWAS1416978 (human)3e-15metabolite measurement6160251474160251475Human
1643404BMD3_HBone mineral density QTL 3 (human)2.420.0005Bone mineral density6157563614170805979Human
597244044GWAS1340118_Hlipoprotein A measurement QTL GWAS1340118 (human)5e-463lipoprotein A measurement6160258368160258369Human
597313228GWAS1409302_HX-12798 measurement QTL GWAS1409302 (human)1e-159X-12798 measurement6160249250160249251Human
597243919GWAS1339993_HIGF-1 measurement QTL GWAS1339993 (human)7e-13IGF-1 measurementblood insulin-like growth factor 1 level (CMO:0001297)6160258368160258369Human
597281024GWAS1377098_HX-12798 measurement QTL GWAS1377098 (human)3e-168X-12798 measurement6160248049160248050Human
597321540GWAS1417614_HN1-methyladenosine measurement QTL GWAS1417614 (human)9e-19N1-methyladenosine measurement6160247009160247010Human
596960116GWAS1079635_Hglomerular filtration rate QTL GWAS1079635 (human)6e-29glomerular filtration rate6160247357160247358Human
597463100GWAS1559174_Hcoronary artery disease QTL GWAS1559174 (human)7e-10coronary artery integrity trait (VT:0010746)6160258368160258369Human
597288314GWAS1384388_Hmyocardial infarction QTL GWAS1384388 (human)5e-09heart integrity trait (VT:0010757)6160241878160241879Human
597324729GWAS1420803_HX-12798 measurement QTL GWAS1420803 (human)6e-36X-12798 measurement6160248049160248050Human
597144114GWAS1240188_HX-12798 measurement QTL GWAS1240188 (human)2e-259X-12798 measurement6160249250160249251Human
597350140GWAS1446214_Hurate measurement QTL GWAS1446214 (human)1e-08urate measurementblood uric acid level (CMO:0000501)6160255344160255345Human
597244016GWAS1340090_Hhigh density lipoprotein cholesterol measurement QTL GWAS1340090 (human)3e-14blood HDL cholesterol amount (VT:0000184)blood high density lipoprotein cholesterol level (CMO:0000052)6160225190160225191Human
597270192GWAS1366266_Hmetabolite measurement QTL GWAS1366266 (human)2e-12metabolite measurement6160246024160246025Human
597240617GWAS1336691_Hlipoprotein A measurement QTL GWAS1336691 (human)1e-101lipoprotein A measurement6160225190160225191Human
597615406GWAS1672266_Hchronic kidney disease QTL GWAS1672266 (human)4e-13kidney integrity trait (VT:0010580)6160253600160253601Human
597270440GWAS1366514_Hmetabolite measurement QTL GWAS1366514 (human)4e-124metabolite measurement6160249250160249251Human
597245230GWAS1341304_Hlow density lipoprotein cholesterol measurement QTL GWAS1341304 (human)1e-15blood LDL cholesterol amount (VT:0000181)blood low density lipoprotein cholesterol level (CMO:0000053)6160258368160258369Human
596961007GWAS1080526_Hglomerular filtration rate QTL GWAS1080526 (human)2e-98glomerular filtration rate6160247357160247358Human
597615397GWAS1672257_Hkidney failure QTL GWAS1672257 (human)3e-15kidney failure6160253600160253601Human
1643367BW323_HBody weight QTL 323 (human)2.420.0005Body fat amount6157563614170805979Human

Markers in Region
SHGC-81309  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376160,660,901 - 160,661,229UniSTSGRCh37
Build 366160,580,891 - 160,581,219RGDNCBI36
Celera6161,310,162 - 161,310,490RGD
Cytogenetic Map6q25.3UniSTS
HuRef6158,135,355 - 158,135,683UniSTS
TNG Radiation Hybrid Map679809.0UniSTS
SLC22A2_2598  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376160,637,782 - 160,638,631UniSTSGRCh37
Build 366160,557,772 - 160,558,621RGDNCBI36
Celera6161,284,712 - 161,285,561RGD
HuRef6158,107,735 - 158,108,584UniSTS


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
renal system
reproductive system
respiratory system
sensory system
730 1870 2352 1709 3308 1037 1268 1 387 535 293 1367 4791 3823 5 2752 717 1354 729 96

Sequence


Ensembl Acc Id: ENST00000366952   ⟹   ENSP00000355919
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl6160,244,185 - 160,277,638 (-)Ensembl
Ensembl Acc Id: ENST00000366953   ⟹   ENSP00000355920
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl6160,216,755 - 160,258,821 (-)Ensembl
Ensembl Acc Id: ENST00000486916
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl6160,171,061 - 160,245,541 (-)Ensembl
Ensembl Acc Id: ENST00000489644
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl6160,257,750 - 160,258,739 (-)Ensembl
Ensembl Acc Id: ENST00000491092
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl6160,217,453 - 160,258,758 (-)Ensembl
Ensembl Acc Id: ENST00000498556
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl6160,217,014 - 160,218,284 (-)Ensembl
RefSeq Acc Id: NM_003058   ⟹   NP_003049
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh386160,216,755 - 160,258,821 (-)NCBI
GRCh376160,637,794 - 160,679,963 (-)ENTREZGENE
Build 366160,557,780 - 160,599,949 (-)NCBI Archive
HuRef6158,107,747 - 158,154,417 (-)ENTREZGENE
CHM1_16160,900,027 - 160,942,556 (-)NCBI
T2T-CHM13v2.06161,462,946 - 161,508,769 (-)NCBI
Sequence:
RefSeq Acc Id: NP_003049   ⟸   NM_003058
- UniProtKB: Q8NG62 (UniProtKB/Swiss-Prot),   Q6PIQ8 (UniProtKB/Swiss-Prot),   Q5T7Q6 (UniProtKB/Swiss-Prot),   Q9NQB9 (UniProtKB/Swiss-Prot),   O15244 (UniProtKB/Swiss-Prot)
- Sequence:
Ensembl Acc Id: ENSP00000355919   ⟸   ENST00000366952
Ensembl Acc Id: ENSP00000355920   ⟸   ENST00000366953
Protein Domains
Major facilitator superfamily (MFS) profile

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-O15244-F1-model_v2 AlphaFold O15244 1-555 view protein structure

Promoters
RGD ID:7209605
Promoter ID:EPDNEW_H10549
Type:initiation region
Name:SLC22A2_1
Description:solute carrier family 22 member 2
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
GRCh386160,258,821 - 160,258,881EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:10966 AgrOrtholog
COSMIC SLC22A2 COSMIC
Ensembl Genes ENSG00000112499 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000366953 ENTREZGENE
  ENST00000366953.8 UniProtKB/Swiss-Prot
Gene3D-CATH 1.20.1250.20 UniProtKB/Swiss-Prot
GTEx ENSG00000112499 GTEx
HGNC ID HGNC:10966 ENTREZGENE
Human Proteome Map SLC22A2 Human Proteome Map
InterPro MFS_dom UniProtKB/Swiss-Prot
  MFS_sugar_transport-like UniProtKB/Swiss-Prot
  MFS_trans_sf UniProtKB/Swiss-Prot
  Orgcat_transp/SVOP UniProtKB/Swiss-Prot
  Sugar_transporter_CS UniProtKB/Swiss-Prot
KEGG Report hsa:6582 UniProtKB/Swiss-Prot
NCBI Gene 6582 ENTREZGENE
OMIM 602608 OMIM
PANTHER SOLUTE CARRIER FAMILY 22 MEMBER UniProtKB/Swiss-Prot
Pfam Sugar_tr UniProtKB/Swiss-Prot
PharmGKB PA331 PharmGKB, RGD
PROSITE MFS UniProtKB/Swiss-Prot
  SUGAR_TRANSPORT_1 UniProtKB/Swiss-Prot
Superfamily-SCOP SSF103473 UniProtKB/Swiss-Prot
UniProt O15244 ENTREZGENE
  Q5T7Q5_HUMAN UniProtKB/TrEMBL
  Q5T7Q6 ENTREZGENE
  Q6PIQ8 ENTREZGENE
  Q8NG62 ENTREZGENE
  Q9NQB9 ENTREZGENE
  S22A2_HUMAN UniProtKB/Swiss-Prot
UniProt Secondary Q5T7Q6 UniProtKB/Swiss-Prot
  Q6PIQ8 UniProtKB/Swiss-Prot
  Q8NG62 UniProtKB/Swiss-Prot
  Q9NQB9 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-02-23 SLC22A2  solute carrier family 22 member 2  SLC22A2  solute carrier family 22 (organic cation transporter), member 2  Symbol and/or name change 5135510 APPROVED