REN (renin) - Rat Genome Database

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Gene: REN (renin) Homo sapiens
Analyze
Symbol: REN
Name: renin
RGD ID: 736366
HGNC Page HGNC
Description: Enables aspartic-type endopeptidase activity and signaling receptor binding activity. Involved in angiotensin maturation; kidney development; and regulation of MAPK cascade. Located in apical part of cell and extracellular space. Implicated in essential hypertension; familial juvenile hyperuricemic nephropathy; hand, foot and mouth disease; hypertension; and portal hypertension. Biomarker of several diseases, including artery disease (multiple); chronic fatigue syndrome; congenital adrenal hyperplasia; human cytomegalovirus infection; and toxic shock syndrome.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: ADTKD4; angiotensin-forming enzyme; angiotensinogenase; FLJ10761; HNFJ2; renin 1; renin precursor, renal; RTD
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
NCBI Annotation Information: Note: This gene has been reviewed for its involvement in coronavirus biology, and is involved in SARS-CoV-2 infection.
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl1204,154,819 - 204,190,324 (-)EnsemblGRCh38hg38GRCh38
GRCh381204,154,819 - 204,166,337 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh371204,123,947 - 204,135,465 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361202,390,571 - 202,402,088 (-)NCBINCBI36hg18NCBI36
Build 341200,855,604 - 200,867,122NCBI
Celera1177,259,194 - 177,270,715 (-)NCBI
Cytogenetic Map1q32.1NCBI
HuRef1175,289,120 - 175,300,481 (-)NCBIHuRef
CHM1_11205,547,624 - 205,559,145 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View
acute kidney failure  (IEP)
Albuminuria  (EXP)
Allanson Pantzar McLeod Syndrome  (EXP)
anemia  (EXP)
atrial fibrillation  (IEP)
autistic disorder  (IAGP)
Autosomal Dominant Tubulointerstitial Kidney Disease 4  (IAGP)
Azotemia  (EXP)
Bartter disease  (EXP)
Cardiomegaly  (EXP,ISO)
chronic fatigue syndrome  (IEP)
colitis  (ISO)
congenital adrenal hyperplasia  (IEP)
congestive heart failure  (EXP,IEP)
Critical Illness  (IEP)
Diabetic Nephropathies  (ISO)
Drug-Related Side Effects and Adverse Reactions  (EXP)
Endotoxemia  (ISO)
essential hypertension  (IDA)
Experimental Diabetes Mellitus  (EXP)
familial juvenile hyperuricemic nephropathy  (IEA)
Fetal Growth Retardation  (EXP)
Fibrosis  (EXP)
gastrointestinal stromal tumor  (IAGP)
hand, foot and mouth disease  (IDA)
Hemorrhage  (EXP)
human cytomegalovirus infection  (IEP)
hypertension  (EXP,IAGP,ISO)
Hyponatremia  (ISO)
Hypotension  (EXP)
ischemia  (EXP)
kidney disease  (EXP,IAGP)
kidney failure  (ISO)
Left Ventricular Hypertrophy  (EXP,ISO)
Liddle syndrome  (EXP)
liver cirrhosis  (EXP)
malignant hypertension  (EXP)
mental depression  (IEP)
myocardial infarction  (EXP,IEP)
nephrosis  (EXP)
nephrotic syndrome  (IAGP)
obesity  (IEP)
osteoporosis  (EXP)
parathyroid carcinoma  (IAGP)
periodontal disease  (ISO)
portal hypertension  (IDA)
Preeclamptic Toxemia  (IEP)
primary biliary cholangitis  (ISO)
primary hyperaldosteronism  (IEP)
proteinuria  (EXP)
psoriasis  (EXP)
Puromycin Aminonucleoside Nephrosis  (ISO)
Renal Tubular Dysgenesis  (IAGP)
renovascular hypertension  (IEP,ISO)
Retina Reperfusion Injury  (ISO)
toxic shock syndrome  (IEP)
withdrawal disorder  (EXP)

Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(R)-adrenaline  (EXP)
1-(propan-2-ylamino)-3-(2-prop-2-enoxyphenoxy)-2-propanol  (EXP)
1-naphthyl isothiocyanate  (ISO)
11-deoxycorticosterone  (ISO)
17alpha-ethynylestradiol  (EXP)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
2,4-dinitrotoluene  (ISO)
2,6-dinitrotoluene  (ISO)
2-hydroxypropanoic acid  (EXP)
2-Phenylaminoadenosine  (ISO)
3'-amino-3'-deoxy-N(6),N(6)-dimethyladenosine  (ISO)
3,3',5,5'-tetrabromobisphenol A  (ISO)
3-isobutyl-1-methyl-7H-xanthine  (ISO)
4-[1-hydroxy-2-(1-phenoxypropan-2-ylamino)propyl]phenol  (EXP)
6alpha-methylprednisolone  (ISO)
acebutolol  (EXP,ISO)
acetaldehyde  (ISO)
acetamide  (ISO)
acetylsalicylic acid  (EXP)
actinomycin D  (EXP)
adenosine  (ISO)
aflatoxin B1  (EXP)
albuterol  (EXP)
aldehydo-D-glucose  (ISO)
aldosterone  (EXP)
aliskiren  (EXP,ISO)
all-trans-retinoic acid  (ISO)
alpha-methyl-L-dopa  (ISO)
alprenolol  (EXP)
aluminium phosphide  (EXP)
amlodipine  (EXP)
ammonium chloride  (ISO)
atenolol  (EXP,ISO)
benazepril  (EXP,ISO)
bendroflumethiazide  (EXP)
benzo[a]pyrene  (EXP)
bis(2-ethylhexyl) phthalate  (ISO)
bisphenol A  (ISO)
bucladesine  (EXP)
bumetanide  (EXP,ISO)
bunitrolol  (EXP)
caffeine  (EXP,ISO)
calcitriol  (EXP)
calcium atom  (ISO)
calcium(0)  (ISO)
calyculin a  (ISO)
candesartan  (EXP,ISO)
carvedilol  (EXP)
celecoxib  (ISO)
CGS-21680  (ISO)
chlordecone  (ISO)
chlorisondamine  (ISO)
chlorthalidone  (EXP)
choline  (ISO)
cilazapril monohydrate  (ISO)
clofibrate  (ISO)
clonidine  (EXP)
clonidine (amino form)  (EXP)
clonidine (imino form)  (EXP)
colforsin daropate hydrochloride  (EXP,ISO)
cortisol  (EXP)
Cuprizon  (ISO)
cyanamide  (ISO)
cycloheximide  (EXP)
cyclosporin A  (EXP,ISO)
D-glucose  (ISO)
desflurane  (EXP)
dexamethasone  (EXP,ISO)
diethylstilbestrol  (EXP)
dihydralazine  (EXP)
diltiazem  (EXP)
dobutamine  (EXP)
doxazosin  (EXP)
doxorubicin  (ISO)
EC 3.4.15.1 (peptidyl-dipeptidase A) inhibitor  (EXP,ISO)
enalapril  (EXP,ISO)
enalaprilat dihydrate  (ISO)
endralazine  (ISO)
esmolol  (EXP)
ethanol  (ISO)
fenoterol  (EXP)
fentanyl  (EXP)
folic acid  (ISO)
furosemide  (EXP,ISO)
genistein  (ISO)
gentamycin  (ISO)
glucose  (ISO)
glycidol  (ISO)
glycyrrhetinate  (EXP)
glycyrrhetinic acid  (EXP)
glycyrrhizinic acid  (EXP)
Guanfacine  (EXP)
halothane  (EXP)
hydralazine  (EXP,ISO)
hydrochlorothiazide  (EXP,ISO)
ICI 118551  (EXP)
indapamide  (EXP)
indometacin  (EXP,ISO)
indoxyl sulfate  (ISO)
iooxitalamic acid  (ISO)
irbesartan  (EXP)
isoflurane  (EXP)
isoprenaline  (EXP,ISO)
Isradipine  (EXP)
ketamine  (EXP)
ketoconazole  (EXP)
ketoprofen  (EXP)
L-methionine  (ISO)
labetalol  (EXP)
lipopolysaccharide  (EXP)
lisinopril dihydrate  (EXP,ISO)
losartan  (EXP,ISO)
magnesium sulfate  (EXP)
meclofenamic acid  (ISO)
methoxychlor  (ISO)
methylmercury chloride  (EXP)
metoprolol  (EXP,ISO)
milrinone  (ISO)
minoxidil  (EXP,ISO)
ML-7  (ISO)
N-acetyl-L-cysteine  (ISO)
N-nitrosomorpholine  (ISO)
N1'-[2-[[5-[(dimethylamino)methyl]-2-furanyl]methylthio]ethyl]-N1-methyl-2-nitroethene-1,1-diamine  (EXP)
naloxone  (EXP)
naproxen  (EXP)
nebivolol  (ISO)
Nicardipine  (EXP)
nifedipine  (EXP)
Nilvadipine  (ISO)
nitrendipine  (EXP)
nitric oxide  (ISO)
nitrofen  (ISO)
nitroglycerin  (EXP)
nitroprusside  (EXP,ISO)
O-methyleugenol  (EXP)
paracetamol  (EXP,ISO)
paricalcitol  (ISO)
pentobarbital  (ISO)
perindopril  (EXP,ISO)
phentolamine  (EXP)
phenylephrine  (EXP,ISO)
phosphorus atom  (ISO)
phosphorus(.)  (ISO)
pindolol  (EXP)
piperidines  (EXP)
pirinixic acid  (ISO)
potassium bromate  (ISO)
practolol  (ISO)
prazosin  (EXP,ISO)
probenecid  (EXP)
propofol  (EXP)
propranolol  (EXP,ISO)
prostaglandin E1  (EXP)
prostaglandin E2  (ISO)
quercetin  (ISO)
quinapril hydrochloride  (ISO)
rac-lactic acid  (EXP)
ramipril  (EXP,ISO)
ranitidine  (EXP)
reboxetine  (EXP)
riddelliine  (ISO)
ritodrine  (EXP)
sildenafil citrate  (EXP)
silver atom  (ISO)
silver(0)  (ISO)
sirolimus  (ISO)
sodium atom  (EXP,ISO)
sodium chloride  (ISO)
soyasaponin I  (EXP)
Soyasaponin II  (EXP)
spirapril  (ISO)
spironolactone  (EXP)
sulindac  (EXP)
tacrolimus hydrate  (ISO)
telmisartan  (ISO)
terbutaline  (EXP)
Testosterone propionate  (ISO)
tetrachloromethane  (ISO)
theophylline  (EXP)
tienilic acid  (EXP)
titanium dioxide  (ISO)
torasemide  (ISO)
trandolapril  (EXP,ISO)
trichloroethene  (ISO)
valproic acid  (EXP)
valsartan  (EXP,ISO)
yohimbine  (ISO)

References

References - curated
1. Ahmad U, etal., Hypertens Res. 2005 Apr;28(4):339-44.
2. Alderman MH, etal., N Engl J Med. 1991 Apr 18;324(16):1098-104.
3. Annat G, etal., Obstet Gynecol. 1978 Aug;52(2):219-24.
4. Azibani F, etal., Ann Cardiol Angeiol (Paris). 2012 May 25.
5. Chen JG, etal., Surg Endosc. 2012 May 31.
6. Chung KS, etal., Korean J Crit Care Med. 2017 May;32(2):142-153. doi: 10.4266/kjccm.2017.00094. Epub 2017 May 31.
7. De Vos AC, etal., Physiol Behav. 2018 Oct 1;194:474-480. doi: 10.1016/j.physbeh.2018.06.038. Epub 2018 Jun 28.
8. Feng Q, etal., Biosci Rep. 2018 Jun 27;38(3). pii: BSR20171522. doi: 10.1042/BSR20171522. Print 2018 Jun 29.
9. Gleeson PJ, etal., Crit Care Med. 2019 Feb;47(2):152-158. doi: 10.1097/CCM.0000000000003544.
10. GOA_HUMAN data from the GO Consortium
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16. Li JL, etal., Zhongguo Wei Zhong Bing Ji Jiu Yi Xue. 2006 Feb;18(2):92-5.
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18. Margatho LO, etal., Neuroscience. 2015 Jun 25;297:78-88. doi: 10.1016/j.neuroscience.2015.03.059. Epub 2015 Apr 1.
19. Meurer M, etal., Pflugers Arch. 2018 Nov;470(11):1691-1703. doi: 10.1007/s00424-018-2183-3. Epub 2018 Jul 19.
20. Nguyen G, Kidney Int. 2006 May;69(9):1503-6.
21. Nguyen LS, etal., Eur J Endocrinol. 2019 Nov;181(5):481-488. doi: 10.1530/EJE-19-0379.
22. Nguyen M, etal., Shock. 2019 Oct;52(4):e22-e30. doi: 10.1097/SHK.0000000000001285.
23. Oka M, etal., Hypertension. 2017 Jul;70(1):119-128. doi: 10.1161/HYPERTENSIONAHA.117.09283. Epub 2017 May 22.
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26. OMIM Disease Annotation Pipeline
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29. Pipeline to import KEGG annotations from KEGG into RGD
30. Pipeline to import SMPDB annotations from SMPDB into RGD
31. RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
32. RGD automated import pipeline for gene-chemical interactions
33. RGD automated import pipeline for human HPO-to-gene-to-disease annotations
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40. Wang C, etal., BMC Infect Dis. 2019 Oct 21;19(1):866. doi: 10.1186/s12879-019-4519-9.
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Additional References at PubMed
PMID:1597471   PMID:1608447   PMID:2016271   PMID:2017226   PMID:2061332   PMID:2186807   PMID:2203348   PMID:2450565   PMID:2493678   PMID:2540188   PMID:2960682   PMID:3032746  
PMID:3066525   PMID:3288503   PMID:3297510   PMID:3516796   PMID:3530608   PMID:3542996   PMID:4289389   PMID:4322712   PMID:4330891   PMID:4360430   PMID:6089171   PMID:6091130  
PMID:6138751   PMID:6324167   PMID:6391881   PMID:6398949   PMID:7584914   PMID:8344672   PMID:8387539   PMID:8494607   PMID:8735181   PMID:8901832   PMID:9928950   PMID:9933256  
PMID:11015597   PMID:11098137   PMID:11224002   PMID:11409653   PMID:11751703   PMID:11776100   PMID:11800056   PMID:11803527   PMID:11847188   PMID:11903315   PMID:11967817   PMID:12045255  
PMID:12186695   PMID:12394950   PMID:12431442   PMID:12431445   PMID:12473863   PMID:12477932   PMID:12544508   PMID:12556231   PMID:12569263   PMID:12613527   PMID:12684512   PMID:12695419  
PMID:12736712   PMID:12862204   PMID:12933794   PMID:14530292   PMID:15015130   PMID:15075192   PMID:15342556   PMID:15368359   PMID:15489334   PMID:15662219   PMID:15739123   PMID:15914614  
PMID:15914769   PMID:16036389   PMID:16169070   PMID:16189286   PMID:16375820   PMID:16396763   PMID:16446393   PMID:16615274   PMID:16672053   PMID:16710414   PMID:16790508   PMID:16933186  
PMID:16940215   PMID:16990260   PMID:17158202   PMID:17207965   PMID:17416596   PMID:17455195   PMID:17476284   PMID:17485830   PMID:17546276   PMID:17562974   PMID:17660193   PMID:17693975  
PMID:17703434   PMID:17785633   PMID:17851801   PMID:18029348   PMID:18077515   PMID:18091737   PMID:18175911   PMID:18188989   PMID:18192836   PMID:18202178   PMID:18205094   PMID:18212269  
PMID:18259612   PMID:18260994   PMID:18325076   PMID:18483152   PMID:18486430   PMID:18508487   PMID:18519826   PMID:18632798   PMID:18698213   PMID:18718746   PMID:18722896   PMID:18794727  
PMID:18856058   PMID:18922597   PMID:18953568   PMID:19023100   PMID:19073901   PMID:19082699   PMID:19126660   PMID:19144755   PMID:19243623   PMID:19369955   PMID:19473121   PMID:19513539  
PMID:19536175   PMID:19664745   PMID:19673942   PMID:19716087   PMID:19733264   PMID:19759335   PMID:19761684   PMID:19891555   PMID:19913121   PMID:20160196   PMID:20201926   PMID:20223792  
PMID:20379614   PMID:20429690   PMID:20452482   PMID:20486282   PMID:20502328   PMID:20529973   PMID:20537141   PMID:20577119   PMID:20619546   PMID:20628086   PMID:20662730   PMID:20673868  
PMID:20702505   PMID:20826507   PMID:20861226   PMID:20884641   PMID:20925572   PMID:20927107   PMID:21036942   PMID:21084044   PMID:21111986   PMID:21163863   PMID:21330419   PMID:21330422  
PMID:21340620   PMID:21424086   PMID:21443456   PMID:21473025   PMID:21490026   PMID:21521263   PMID:21576655   PMID:21659414   PMID:21697610   PMID:21712789   PMID:21742440   PMID:21831501  
PMID:21873635   PMID:21881521   PMID:21941204   PMID:21941205   PMID:22022827   PMID:22042811   PMID:22136493   PMID:22396488   PMID:22453004   PMID:22459392   PMID:22575890   PMID:22676457  
PMID:22695510   PMID:22721990   PMID:23077077   PMID:23108193   PMID:23111329   PMID:23292178   PMID:23358739   PMID:23461768   PMID:24154707   PMID:24164175   PMID:24218434   PMID:24284398  
PMID:24436325   PMID:24742480   PMID:24965793   PMID:24970860   PMID:25143328   PMID:25237165   PMID:25279703   PMID:25333683   PMID:25491485   PMID:25510769   PMID:25534858   PMID:25660845  
PMID:25767135   PMID:25849646   PMID:26076559   PMID:26102248   PMID:26163660   PMID:26300226   PMID:26322847   PMID:26366736   PMID:26489635   PMID:26753721   PMID:27107012   PMID:27271344  
PMID:27428770   PMID:27534428   PMID:27555048   PMID:27927648   PMID:28019132   PMID:28276504   PMID:28395289   PMID:28455747   PMID:28514442   PMID:28640140   PMID:28641212   PMID:28747358  
PMID:28875746   PMID:29123029   PMID:29233044   PMID:29548814   PMID:30563843   PMID:31177424   PMID:31409916   PMID:31473089   PMID:31622820   PMID:32682174   PMID:32750457   PMID:33043632  
PMID:33065209   PMID:33184370   PMID:33677630   PMID:33750025  


Genomics

Comparative Map Data
REN
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl1204,154,819 - 204,190,324 (-)EnsemblGRCh38hg38GRCh38
GRCh381204,154,819 - 204,166,337 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh371204,123,947 - 204,135,465 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361202,390,571 - 202,402,088 (-)NCBINCBI36hg18NCBI36
Build 341200,855,604 - 200,867,122NCBI
Celera1177,259,194 - 177,270,715 (-)NCBI
Cytogenetic Map1q32.1NCBI
HuRef1175,289,120 - 175,300,481 (-)NCBIHuRef
CHM1_11205,547,624 - 205,559,145 (-)NCBICHM1_1
Ren1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391133,278,412 - 133,288,058 (+)NCBIGRCm39mm39
GRCm39 Ensembl1133,278,248 - 133,288,063 (+)Ensembl
GRCm381133,350,674 - 133,360,320 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1133,350,510 - 133,360,325 (+)EnsemblGRCm38mm10GRCm38
MGSCv371135,247,251 - 135,256,894 (+)NCBIGRCm37mm9NCBIm37
MGSCv361135,178,238 - 135,187,863 (+)NCBImm8
Celera1135,963,151 - 135,972,794 (+)NCBICelera
Cytogenetic Map1E4NCBI
cM Map157.91NCBI
Ren
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.21344,796,260 - 44,807,491 (+)NCBImRatBN7.2
mRatBN7.2 Ensembl1344,796,091 - 44,807,489 (+)Ensembl
Rnor_6.01350,502,724 - 50,513,953 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1350,502,724 - 50,514,151 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01355,555,583 - 55,566,812 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41346,262,936 - 46,275,213 (+)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.11346,277,000 - 46,288,249 (+)NCBI
Celera1345,129,122 - 45,139,889 (+)NCBICelera
RH 3.4 Map13170.9RGD
Cytogenetic Map13q13NCBI
Ren
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495540640,016,630 - 40,026,286 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495540640,016,624 - 40,026,286 (-)NCBIChiLan1.0ChiLan1.0
REN
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.11184,045,917 - 184,057,431 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1184,046,117 - 184,057,393 (-)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v01179,757,653 - 179,769,530 (-)NCBIMhudiblu_PPA_v0panPan3
REN
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.138744,540 - 766,998 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl38744,614 - 755,012 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha38840,126 - 850,501 (-)NCBI
ROS_Cfam_1.038740,693 - 762,325 (-)NCBI
UMICH_Zoey_3.138736,523 - 746,891 (-)NCBI
UNSW_CanFamBas_1.0381,127,902 - 1,138,260 (-)NCBI
UU_Cfam_GSD_1.0381,328,102 - 1,338,487 (-)NCBI
Ren
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440934471,363,409 - 71,373,041 (+)NCBI
SpeTri2.0NW_004936567598,044 - 607,628 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
REN
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl964,809,146 - 64,822,636 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1964,809,143 - 64,822,605 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2971,147,542 - 71,151,808 (-)NCBISscrofa10.2Sscrofa10.2susScr3
REN
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.12525,159,816 - 25,193,620 (+)NCBIChlSab1.1chlSab2
ChlSab1.1 Ensembl2525,183,037 - 25,193,420 (+)EnsemblChlSab1.1chlSab2
Vero_WHO_p1.0NW_02366605525,943,204 - 25,954,169 (+)NCBIVero_WHO_p1.0
Ren
(Heterocephalus glaber - naked mole-rat)
Naked Mole-rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_0046248076,817,472 - 6,827,374 (+)NCBIHetGla_female_1.0hetGla2

Position Markers
GDB:181533  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371204,135,670 - 204,135,954UniSTSGRCh37
Build 361202,402,293 - 202,402,577RGDNCBI36
Celera1177,270,920 - 177,271,204RGD
Cytogenetic Map1q32UniSTS
HuRef1175,300,686 - 175,300,970UniSTS
GDB:185507  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371204,125,348 - 204,125,601UniSTSGRCh37
Build 361202,391,971 - 202,392,224RGDNCBI36
Celera1177,260,598 - 177,260,851RGD
Cytogenetic Map1q32UniSTS
HuRef1175,290,524 - 175,290,777UniSTS
SHGC-76203  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371204,125,241 - 204,125,536UniSTSGRCh37
Build 361202,391,864 - 202,392,159RGDNCBI36
Celera1177,260,491 - 177,260,786RGD
Cytogenetic Map1q32UniSTS
HuRef1175,290,417 - 175,290,712UniSTS
TNG Radiation Hybrid Map153817.0UniSTS
GeneMap99-GB4 RH Map1674.01UniSTS
NCBI RH Map11743.5UniSTS
SHGC-101663  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371204,126,085 - 204,126,434UniSTSGRCh37
Build 361202,392,708 - 202,393,057RGDNCBI36
Celera1177,261,335 - 177,261,684RGD
Cytogenetic Map1q32UniSTS
HuRef1175,291,261 - 175,291,610UniSTS
TNG Radiation Hybrid Map153817.0UniSTS
SHGC-76202  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371204,128,869 - 204,129,072UniSTSGRCh37
Build 361202,395,492 - 202,395,695RGDNCBI36
Celera1177,264,119 - 177,264,322RGD
Cytogenetic Map1q32UniSTS
HuRef1175,293,885 - 175,294,088UniSTS
TNG Radiation Hybrid Map153813.0UniSTS
GeneMap99-GB4 RH Map1674.01UniSTS
NCBI RH Map11743.5UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:603
Count of miRNA genes:269
Interacting mature miRNAs:284
Transcripts:ENST00000272190, ENST00000367195
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.


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 1 6 6
Medium 21 9 9 6 4 6 1 2 203 188 5 2 13 1 1
Low 169 194 411 234 61 185 294 8 107 106 750 372 56 129 204 1
Below cutoff 1190 1432 1058 361 584 256 3022 782 2948 64 456 871 108 857 1905

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_012122 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_000537 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AF117822 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AH002979 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AH002980 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AH007216 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL592114 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL592146 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY436324 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC033474 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC047752 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BP321283 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471067 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CR536498 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EU332871 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M15410 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X00063 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000272190   ⟹   ENSP00000272190
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1204,154,819 - 204,166,337 (-)Ensembl
RefSeq Acc Id: ENST00000638118   ⟹   ENSP00000490307
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1204,154,938 - 204,190,324 (-)Ensembl
RefSeq Acc Id: NM_000537   ⟹   NP_000528
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381204,154,819 - 204,166,337 (-)NCBI
GRCh371204,123,944 - 204,135,465 (-)ENTREZGENE
Build 361202,390,571 - 202,402,088 (-)NCBI Archive
HuRef1175,289,120 - 175,300,481 (-)ENTREZGENE
CHM1_11205,547,624 - 205,559,145 (-)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_000528   ⟸   NM_000537
- Peptide Label: preproprotein
- UniProtKB: P00797 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSP00000490307   ⟸   ENST00000638118
RefSeq Acc Id: ENSP00000272190   ⟸   ENST00000272190
Protein Domains
Peptidase A1

Protein Structures
Name Modeller Protein Id AA Range Protein Structure Video
Prorenin pdb 4amt P00797 24-406 view protein structure view video
Renin1 pdb 2x0b P00797 67-406 view protein structure view video

Promoters
RGD ID:6849880
Promoter ID:EP16056
Type:single initiation site
Name:HS_REN
Description:Renin.
SO ACC ID:SO:0000170
Source:EPD (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Notes:homology_group=Homology group 81; Mammalian renin
Experiment Methods:Sequencing of a full-length cDNA; Primer extension; experiments performed with closely related; gene
Position:
Human AssemblyChrPosition (strand)Source
Build 361202,402,088 - 202,402,148EPD
RGD ID:6858672
Promoter ID:EPDNEW_H2501
Type:multiple initiation site
Name:REN_1
Description:renin
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
GRCh381204,166,337 - 204,166,397EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_000537.4(REN):c.1159C>T (p.Arg387Ter) single nucleotide variant Hyperproreninemia, familial [RCV000014002] Chr1:204155078 [GRCh38]
Chr1:204124206 [GRCh37]
Chr1:1q32.1
pathogenic
NM_000537.4(REN):c.145C>T (p.Arg49Ter) single nucleotide variant Hyperuricemic nephropathy, familial juvenile, 2 [RCV001281274]|Renal dysplasia [RCV000014003] Chr1:204162117 [GRCh38]
Chr1:204131245 [GRCh37]
Chr1:1q32.1
pathogenic
NM_000537.4(REN):c.689G>A (p.Arg230Lys) single nucleotide variant Renal dysplasia [RCV000014004] Chr1:204159399 [GRCh38]
Chr1:204128527 [GRCh37]
Chr1:1q32.1
pathogenic
NM_000537.4(REN):c.36GCT[3] (p.Leu16del) microsatellite Hyperuricemic nephropathy, familial juvenile, 2 [RCV000014005] Chr1:204166247..204166249 [GRCh38]
Chr1:204135375..204135377 [GRCh37]
Chr1:1q32.1
pathogenic
NM_000537.4(REN):c.47T>G (p.Leu16Arg) single nucleotide variant Hyperuricemic nephropathy, familial juvenile, 2 [RCV000014006] Chr1:204166247 [GRCh38]
Chr1:204135375 [GRCh37]
Chr1:1q32.1
pathogenic
NM_000537.4(REN):c.320C>T (p.Ser107Leu) single nucleotide variant not provided [RCV000723164] Chr1:204161345 [GRCh38]
Chr1:204130473 [GRCh37]
Chr1:1q32.1
uncertain significance
NM_000537.4(REN):c.127C>T (p.Arg43Ter) single nucleotide variant Renal dysplasia [RCV000043472] Chr1:204162135 [GRCh38]
Chr1:204131263 [GRCh37]
Chr1:1q32.1
pathogenic
NM_000537.4(REN):c.404C>A (p.Ser135Tyr) single nucleotide variant Renal dysplasia [RCV000043473] Chr1:204160648 [GRCh38]
Chr1:204129776 [GRCh37]
Chr1:1q32.1
pathogenic
GRCh38/hg38 1q31.1-42.11(chr1:187143981-224299417)x3 copy number gain See cases [RCV000051857] Chr1:187143981..224299417 [GRCh38]
Chr1:187113113..224487119 [GRCh37]
Chr1:185379736..222553742 [NCBI36]
Chr1:1q31.1-42.11
pathogenic
NM_000537.3(REN):c.1008C>T (p.Phe336=) single nucleotide variant Malignant melanoma [RCV000064470] Chr1:204155871 [GRCh38]
Chr1:204124999 [GRCh37]
Chr1:202391622 [NCBI36]
Chr1:1q32.1
not provided
NM_000537.3(REN):c.757G>A (p.Glu253Lys) single nucleotide variant Malignant melanoma [RCV000064471] Chr1:204156738 [GRCh38]
Chr1:204125866 [GRCh37]
Chr1:202392489 [NCBI36]
Chr1:1q32.1
not provided
NM_000537.3(REN):c.710C>T (p.Ser237Leu) single nucleotide variant Malignant melanoma [RCV000060054] Chr1:204156785 [GRCh38]
Chr1:204125913 [GRCh37]
Chr1:202392536 [NCBI36]
Chr1:1q32.1
not provided
NM_000537.3(REN):c.594C>T (p.Phe198=) single nucleotide variant Malignant melanoma [RCV000060055] Chr1:204159494 [GRCh38]
Chr1:204128622 [GRCh37]
Chr1:202395245 [NCBI36]
Chr1:1q32.1
not provided
NM_000537.3(REN):c.500G>A (p.Gly167Glu) single nucleotide variant Malignant melanoma [RCV000060056] Chr1:204159588 [GRCh38]
Chr1:204128716 [GRCh37]
Chr1:202395339 [NCBI36]
Chr1:1q32.1
not provided
NM_000537.4(REN):c.374-13G>A single nucleotide variant Hyperuricemic nephropathy, familial juvenile, 2 [RCV000306282]|Renal dysplasia [RCV000363259] Chr1:204160691 [GRCh38]
Chr1:204129819 [GRCh37]
Chr1:1q32.1
benign|uncertain significance
GRCh37/hg19 1q31.3-42.13(chr1:197811907-228997888)x3 copy number gain See cases [RCV000240137] Chr1:197811907..228997888 [GRCh37]
Chr1:1q31.3-42.13
pathogenic
NM_000537.4(REN):c.1076A>T (p.Lys359Ile) single nucleotide variant Hyperuricemic nephropathy, familial juvenile, 2 [RCV000296847]|Renal dysplasia [RCV000402439] Chr1:204155161 [GRCh38]
Chr1:204124289 [GRCh37]
Chr1:1q32.1
likely benign|uncertain significance
NM_000537.4(REN):c.492+3A>G single nucleotide variant Hyperuricemic nephropathy, familial juvenile, 2 [RCV000352004]|Renal dysplasia [RCV000294813]|not provided [RCV000966776] Chr1:204160557 [GRCh38]
Chr1:204129685 [GRCh37]
Chr1:1q32.1
benign|likely benign
NM_000537.4(REN):c.744C>A (p.Asp248Glu) single nucleotide variant Hyperuricemic nephropathy, familial juvenile, 2 [RCV000366015]|Renal dysplasia [RCV000269070] Chr1:204156751 [GRCh38]
Chr1:204125879 [GRCh37]
Chr1:1q32.1
likely benign|uncertain significance
NM_000537.4(REN):c.9A>T (p.Gly3=) single nucleotide variant Hyperuricemic nephropathy, familial juvenile, 2 [RCV000317744]|Renal dysplasia [RCV000260185]|not provided [RCV000958549] Chr1:204166285 [GRCh38]
Chr1:204135413 [GRCh37]
Chr1:1q32.1
benign|likely benign
NM_000537.4(REN):c.855C>T (p.Asp285=) single nucleotide variant Hyperuricemic nephropathy, familial juvenile, 2 [RCV000314576]|Renal dysplasia [RCV000366947] Chr1:204156283 [GRCh38]
Chr1:204125411 [GRCh37]
Chr1:1q32.1
likely benign|uncertain significance
NM_000537.4(REN):c.630C>T (p.Phe210=) single nucleotide variant Hyperuricemic nephropathy, familial juvenile, 2 [RCV000282128]|Renal dysplasia [RCV000374280]|not provided [RCV000901344] Chr1:204159458 [GRCh38]
Chr1:204128586 [GRCh37]
Chr1:1q32.1
benign|likely benign|uncertain significance
NM_000537.4(REN):c.22C>G (p.Pro8Ala) single nucleotide variant Hyperuricemic nephropathy, familial juvenile, 2 [RCV000318852]|Renal dysplasia [RCV000375769]|not provided [RCV000888904] Chr1:204166272 [GRCh38]
Chr1:204135400 [GRCh37]
Chr1:1q32.1
benign|likely benign
NM_000537.4(REN):c.649G>A (p.Gly217Arg) single nucleotide variant Hyperuricemic nephropathy, familial juvenile, 2 [RCV000286923]|Renal dysplasia [RCV000320838]|not provided [RCV000955276] Chr1:204159439 [GRCh38]
Chr1:204128567 [GRCh37]
Chr1:1q32.1
benign
NM_000537.4(REN):c.663G>A (p.Glu221=) single nucleotide variant Hyperuricemic nephropathy, familial juvenile, 2 [RCV000378836]|Renal dysplasia [RCV000326524]|not provided [RCV000891354] Chr1:204159425 [GRCh38]
Chr1:204128553 [GRCh37]
Chr1:1q32.1
benign|likely benign|uncertain significance
NM_000537.4(REN):c.398C>T (p.Ser133Leu) single nucleotide variant Hyperuricemic nephropathy, familial juvenile, 2 [RCV000408106]|Renal dysplasia [RCV000312491] Chr1:204160654 [GRCh38]
Chr1:204129782 [GRCh37]
Chr1:1q32.1
benign|uncertain significance
NM_000537.4(REN):c.492+12C>T single nucleotide variant Hyperuricemic nephropathy, familial juvenile, 2 [RCV000373042]|Renal dysplasia [RCV000334720] Chr1:204160548 [GRCh38]
Chr1:204129676 [GRCh37]
Chr1:1q32.1
benign|uncertain significance
NM_000537.4(REN):c.817G>C (p.Gly273Arg) single nucleotide variant Hyperuricemic nephropathy, familial juvenile, 2 [RCV000274832]|Renal dysplasia [RCV000327573] Chr1:204156678 [GRCh38]
Chr1:204125806 [GRCh37]
Chr1:1q32.1
uncertain significance
NM_000537.4(REN):c.390C>T (p.Phe130=) single nucleotide variant Hyperuricemic nephropathy, familial juvenile, 2 [RCV000404913]|Renal dysplasia [RCV000346032]|not provided [RCV000916373] Chr1:204160662 [GRCh38]
Chr1:204129790 [GRCh37]
Chr1:1q32.1
likely benign|uncertain significance
NM_003895.3(SYNJ1):c.3486A>G (p.Pro1162=) single nucleotide variant Hyperuricemic nephropathy, familial juvenile, 2 [RCV000357682]|Renal dysplasia [RCV000265392]|not provided [RCV001682983]|not specified [RCV000253471] Chr1:204162058 [GRCh38]
Chr1:204131186 [GRCh37]
Chr1:1q32.1
benign
null single nucleotide variant not provided [RCV001723839]|not specified [RCV000245271] Chr1:204160543 [GRCh38]
Chr1:204129671 [GRCh37]
Chr1:1q32.1
benign
NM_000537.4(REN):c.267G>T (p.Glu89Asp) single nucleotide variant Hyperuricemic nephropathy, familial juvenile, 2 [RCV000266537]|Renal dysplasia [RCV000305365] Chr1:204161398 [GRCh38]
Chr1:204130526 [GRCh37]
Chr1:1q32.1
uncertain significance
NM_000537.4(REN):c.961-12C>A single nucleotide variant Hyperuricemic nephropathy, familial juvenile, 2 [RCV000404401]|Renal dysplasia [RCV000354317] Chr1:204155930 [GRCh38]
Chr1:204125058 [GRCh37]
Chr1:1q32.1
uncertain significance
GRCh37/hg19 1q31.3-44(chr1:195483439-249213000)x3 copy number gain See cases [RCV000449172] Chr1:195483439..249213000 [GRCh37]
Chr1:1q31.3-44
pathogenic
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3 copy number gain See cases [RCV000510383] Chr1:849467..249224684 [GRCh37]
Chr1:1p36.33-q44
pathogenic
NM_000537.4(REN):c.47T>A (p.Leu16His) single nucleotide variant Hyperuricemic nephropathy, familial juvenile, 2 [RCV000505648] Chr1:204166247 [GRCh38]
Chr1:204135375 [GRCh37]
Chr1:1q32.1
likely pathogenic
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684) copy number gain See cases [RCV000510926] Chr1:849467..249224684 [GRCh37]
Chr1:1p36.33-q44
pathogenic
NM_000537.4(REN):c.116T>A (p.Met39Lys) single nucleotide variant not provided [RCV000681790] Chr1:204162146 [GRCh38]
Chr1:204131274 [GRCh37]
Chr1:1q32.1
likely pathogenic
GRCh37/hg19 1p36.33-q44(chr1:47851-249228449)x3 copy number gain not provided [RCV000736295] Chr1:47851..249228449 [GRCh37]
Chr1:1p36.33-q44
pathogenic
GRCh37/hg19 1p36.33-q44(chr1:82154-249218992)x3 copy number gain not provided [RCV000736305] Chr1:82154..249218992 [GRCh37]
Chr1:1p36.33-q44
pathogenic
NC_000001.11:g.(?_204033173)_(208209798_?)del deletion Autistic disorder of childhood onset [RCV000754138] Chr1:204033173..208209798 [GRCh38]
Chr1:1q32.1-32.2
likely pathogenic
GRCh37/hg19 1q25.3-41(chr1:185644663-221698833)x3 copy number gain not provided [RCV000749265] Chr1:185644663..221698833 [GRCh37]
Chr1:1q25.3-41
pathogenic
NM_003895.3(SYNJ1):c.3486A>G (p.Pro1162=) single nucleotide variant not provided [RCV001678795] Chr1:204160999 [GRCh38]
Chr1:204130127 [GRCh37]
Chr1:1q32.1
benign
NM_000537.4(REN):c.1060-66del deletion not provided [RCV001533931] Chr1:204155243 [GRCh38]
Chr1:204124371 [GRCh37]
Chr1:1q32.1
benign
NM_001943.5(DSG2):c.1299T>C (p.Asp433=) microsatellite not provided [RCV001709017] Chr1:204156337..204156340 [GRCh38]
Chr1:204125465..204125468 [GRCh37]
Chr1:1q32.1
benign
NM_000537.4(REN):c.954G>A (p.Leu318=) single nucleotide variant not provided [RCV000898230] Chr1:204156184 [GRCh38]
Chr1:204125312 [GRCh37]
Chr1:1q32.1
benign
NM_000537.4(REN):c.969G>T (p.Val323=) single nucleotide variant not provided [RCV000903699] Chr1:204155910 [GRCh38]
Chr1:204125038 [GRCh37]
Chr1:1q32.1
likely benign
NM_000537.4(REN):c.174C>T (p.Pro58=) single nucleotide variant not provided [RCV000976011] Chr1:204162088 [GRCh38]
Chr1:204131216 [GRCh37]
Chr1:1q32.1
likely benign
NM_000537.4(REN):c.978C>T (p.Asn326=) single nucleotide variant not provided [RCV000926154] Chr1:204155901 [GRCh38]
Chr1:204125029 [GRCh37]
Chr1:1q32.1
likely benign
NM_000537.4(REN):c.810A>G (p.Gln270=) single nucleotide variant not provided [RCV000923974] Chr1:204156685 [GRCh38]
Chr1:204125813 [GRCh37]
Chr1:1q32.1
likely benign
NM_000537.4(REN):c.373+7C>T single nucleotide variant not provided [RCV000915334] Chr1:204161285 [GRCh38]
Chr1:204130413 [GRCh37]
Chr1:1q32.1
likely benign
NM_000537.4(REN):c.871G>A (p.Val291Ile) single nucleotide variant Hyperuricemic nephropathy, familial juvenile, 2 [RCV001096191]|Renal dysplasia [RCV001096190] Chr1:204156267 [GRCh38]
Chr1:204125395 [GRCh37]
Chr1:1q32.1
uncertain significance
NM_000537.4(REN):c.45G>A (p.Leu15=) single nucleotide variant Hyperuricemic nephropathy, familial juvenile, 2 [RCV001098529]|Renal dysplasia [RCV001098034] Chr1:204166249 [GRCh38]
Chr1:204135377 [GRCh37]
Chr1:1q32.1
benign|uncertain significance
NM_000537.4(REN):c.317G>C (p.Gly106Ala) single nucleotide variant Hyperuricemic nephropathy, familial juvenile, 2 [RCV001096286]|Renal dysplasia [RCV001096285] Chr1:204161348 [GRCh38]
Chr1:204130476 [GRCh37]
Chr1:1q32.1
uncertain significance
NM_000537.4(REN):c.832T>C (p.Ser278Pro) single nucleotide variant Hyperuricemic nephropathy, familial juvenile, 2 [RCV001096193]|Renal dysplasia [RCV001096192] Chr1:204156306 [GRCh38]
Chr1:204125434 [GRCh37]
Chr1:1q32.1
uncertain significance
GRCh37/hg19 1q31.3-32.2(chr1:194356425-210988710)x3 copy number gain not provided [RCV001249273] Chr1:194356425..210988710 [GRCh37]
Chr1:1q31.3-32.2
not provided
GRCh37/hg19 1q25.3-44(chr1:182388773-249111240)x3 copy number gain not provided [RCV000845852] Chr1:182388773..249111240 [GRCh37]
Chr1:1q25.3-44
pathogenic
NM_000537.4(REN):c.1032G>A (p.Thr344=) single nucleotide variant Hyperuricemic nephropathy, familial juvenile, 2 [RCV001101614]|Renal dysplasia [RCV001101615] Chr1:204155847 [GRCh38]
Chr1:204124975 [GRCh37]
Chr1:1q32.1
benign|uncertain significance
NM_000537.4(REN):c.97C>T (p.Arg33Trp) single nucleotide variant Hyperuricemic nephropathy, familial juvenile, 2 [RCV001096287]|Renal dysplasia [RCV001096288] Chr1:204166197 [GRCh38]
Chr1:204135325 [GRCh37]
Chr1:1q32.1
benign|uncertain significance
NM_002055.5(GFAP):c.469G>A (p.Asp157Asn) single nucleotide variant not provided [RCV001657076] Chr1:204159726 [GRCh38]
Chr1:204128854 [GRCh37]
Chr1:1q32.1
benign
NM_000744.7(CHRNA4):c.1227T>C (p.Cys409=) duplication not provided [RCV001677224] Chr1:204161089..204161090 [GRCh38]
Chr1:204130217..204130218 [GRCh37]
Chr1:1q32.1
benign
NM_000537.4(REN):c.961-5C>A single nucleotide variant Hyperuricemic nephropathy, familial juvenile, 2 [RCV001101616]|Renal dysplasia [RCV001101617]|not provided [RCV000930941] Chr1:204155923 [GRCh38]
Chr1:204125051 [GRCh37]
Chr1:1q32.1
benign|likely benign|uncertain significance
NM_000537.4(REN):c.1183C>A (p.Arg395=) single nucleotide variant not provided [RCV000918169] Chr1:204155054 [GRCh38]
Chr1:204124182 [GRCh37]
Chr1:1q32.1
likely benign
NM_000537.4(REN):c.255G>C (p.Gln85His) single nucleotide variant Renal dysplasia [RCV001196049] Chr1:204161410 [GRCh38]
Chr1:204130538 [GRCh37]
Chr1:1q32.1
uncertain significance
NM_022445.4(TPK1):c.614-13del single nucleotide variant not provided [RCV001721819] Chr1:204159145 [GRCh38]
Chr1:204128273 [GRCh37]
benign
NM_015120.4(ALMS1):c.6085T>C (p.Ser2029Pro) single nucleotide variant not provided [RCV001596754] Chr1:204161903 [GRCh38]
Chr1:204131031 [GRCh37]
Chr1:1q32.1
benign
null single nucleotide variant not provided [RCV001636499] Chr1:204155737 [GRCh38]
Chr1:204124865 [GRCh37]
Chr1:1q32.1
benign
NM_004837.4(GGPS1):c.782G>A (p.Arg261His) AND MUSCULAR DYSTROPHY, CONGENITAL HEARING LOSS, single nucleotide variant not provided [RCV001639070] Chr1:204155961 [GRCh38]
Chr1:204125089 [GRCh37]
Chr1:1q32.1
benign
NM_002055.5(GFAP):c.469G>A (p.Asp157Asn) single nucleotide variant not provided [RCV001649384] Chr1:204156859 [GRCh38]
Chr1:204125987 [GRCh37]
Chr1:1q32.1
benign
null single nucleotide variant not provided [RCV001613855] Chr1:204160426 [GRCh38]
Chr1:204129554 [GRCh37]
Chr1:1q32.1
benign
NM_000537.4(REN):c.661G>A (p.Glu221Lys) single nucleotide variant Hyperuricemic nephropathy, familial juvenile, 2 [RCV001099724]|Renal dysplasia [RCV001099725] Chr1:204159427 [GRCh38]
Chr1:204128555 [GRCh37]
Chr1:1q32.1
uncertain significance
null single nucleotide variant not provided [RCV001693946] Chr1:204157250 [GRCh38]
Chr1:204126378 [GRCh37]
Chr1:1q32.1
benign
NM_003895.3(SYNJ1):c.3486A>G (p.Pro1162=) single nucleotide variant not provided [RCV001685739] Chr1:204161248 [GRCh38]
Chr1:204130376 [GRCh37]
Chr1:1q32.1
benign
GRCh37/hg19 1q32.1-44(chr1:204045948-249218992)x3 copy number gain See cases [RCV001007407] Chr1:204045948..249218992 [GRCh37]
Chr1:1q32.1-44
pathogenic
null single nucleotide variant not provided [RCV001696524] Chr1:204156381 [GRCh38]
Chr1:204125509 [GRCh37]
Chr1:1q32.1
benign
NM_000537.4(REN):c.718G>A (p.Gly240Arg) single nucleotide variant Hyperuricemic nephropathy, familial juvenile, 2 [RCV001097934]|Renal dysplasia [RCV001097933] Chr1:204156777 [GRCh38]
Chr1:204125905 [GRCh37]
Chr1:1q32.1
uncertain significance
NM_000537.4(REN):c.1118C>T (p.Pro373Leu) single nucleotide variant Hyperuricemic nephropathy, familial juvenile, 2 [RCV001101612]|Renal dysplasia [RCV001101613] Chr1:204155119 [GRCh38]
Chr1:204124247 [GRCh37]
Chr1:1q32.1
benign|uncertain significance
NM_000537.4(REN):c.-26A>G single nucleotide variant Hyperuricemic nephropathy, familial juvenile, 2 [RCV001098035]|Renal dysplasia [RCV001098036] Chr1:204166319 [GRCh38]
Chr1:204135447 [GRCh37]
Chr1:1q32.1
uncertain significance
NM_000537.4(REN):c.58T>C (p.Cys20Arg) single nucleotide variant Hyperuricemic nephropathy, familial juvenile, 2 [RCV001281275] Chr1:204166236 [GRCh38]
Chr1:204135364 [GRCh37]
Chr1:1q32.1
likely pathogenic
NM_000537.4(REN):c.1220G>T (p.Ter407Leu) single nucleotide variant not provided [RCV001356209] Chr1:204155017 [GRCh38]
Chr1:204124145 [GRCh37]
Chr1:1q32.1
uncertain significance
NM_000537.4(REN):c.215C>A (p.Thr72Asn) single nucleotide variant Nephrotic syndrome [RCV001328255] Chr1:204162047 [GRCh38]
Chr1:204131175 [GRCh37]
Chr1:1q32.1
uncertain significance
NC_000001.10:g.(?_130980840)_(248900000_?)dup duplication Gastrointestinal stromal tumor [RCV001300221]|Parathyroid carcinoma [RCV001341077] Chr1:130980840..248900000 [GRCh37]
Chr1:1q12-44
uncertain significance
NM_000537.4(REN):c.960+34G>T single nucleotide variant not provided [RCV001537182] Chr1:204156144 [GRCh38]
Chr1:204125272 [GRCh37]
Chr1:1q32.1
benign
NM_000371.3(TTR):c.372C>G (p.Arg124=) microsatellite not provided [RCV001698631] Chr1:204156336..204156337 [GRCh38]
Chr1:204125464..204125465 [GRCh37]
Chr1:1q32.1
benign
null microsatellite not provided [RCV001671927] Chr1:204156336..204156337 [GRCh38]
Chr1:204125464..204125465 [GRCh37]
Chr1:1q32.1
benign
null single nucleotide variant not provided [RCV001693966] Chr1:204155417 [GRCh38]
Chr1:204124545 [GRCh37]
Chr1:1q32.1
benign
NM_032043.3(BRIP1):c.1795-12_1795-10del deletion not provided [RCV001716465] Chr1:204161933..204161934 [GRCh38]
Chr1:204131061..204131062 [GRCh37]
Chr1:1q32.1
benign
NM_000537.4(REN):c.249+1G>A single nucleotide variant not provided [RCV001378256] Chr1:204162012 [GRCh38]
Chr1:204131140 [GRCh37]
Chr1:1q32.1
likely pathogenic

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:9958 AgrOrtholog
COSMIC REN COSMIC
Ensembl Genes ENSG00000143839 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000272190 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000490307 UniProtKB/TrEMBL
Ensembl Transcript ENST00000272190 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000638118 UniProtKB/TrEMBL
Gene3D-CATH 2.40.70.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000143839 GTEx
HGNC ID HGNC:9958 ENTREZGENE
Human Proteome Map REN Human Proteome Map
InterPro Aspartic_peptidase_A1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Aspartic_peptidase_AS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Aspartic_peptidase_N UniProtKB/Swiss-Prot
  PEPTIDASE_A1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Peptidase_aspartic_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Renin-like_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:5972 UniProtKB/Swiss-Prot
NCBI Gene 5972 ENTREZGENE
OMIM 179820 OMIM
  267430 OMIM
  613092 OMIM
PANTHER PTHR47966 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam A1_Propeptide UniProtKB/Swiss-Prot
  Asp UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA297 PharmGKB, RGD
PRINTS PEPSIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE ASP_PROTEASE UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PEPTIDASE_A1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF50630 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A1B0GUZ2_HUMAN UniProtKB/TrEMBL
  P00797 ENTREZGENE, UniProtKB/Swiss-Prot
UniProt Secondary Q6FI38 UniProtKB/Swiss-Prot
  Q6T5C2 UniProtKB/Swiss-Prot