Gene Gene information from NCBI Gene database. Download as csv Download as pdf
Entrez ID	5972
Gene name	Renin
Gene symbol	REN
Synonyms (NCBI Gene)	ADTKD4HNFJ2RTD
Chromosome	1
Chromosome location	1q32.1
Summary	This gene encodes renin, an aspartic protease that is secreted by the kidneys. Renin is a part of the renin-angiotensin-aldosterone system involved in regulation of blood pressure, and electrolyte balance. This enzyme catalyzes the first step in the activ

8 Show/Hide all (8)

SNP ID	Visualize variation	Clinical significance	Consequence
rs121917740	G>A	Pathogenic	Stop gained, coding sequence variant
rs121917741	G>A	Pathogenic	Stop gained, coding sequence variant
rs121917742	C>T	Pathogenic	Missense variant, coding sequence variant
rs121917743	A>C,T	Likely-pathogenic, pathogenic	Missense variant, coding sequence variant
rs397514690	G>A	Pathogenic	Coding sequence variant, stop gained
rs397514691	G>T	Pathogenic	Coding sequence variant, missense variant
rs1558245626	A>T	Likely-pathogenic	Coding sequence variant, missense variant
rs1571652012	CAG>-	Pathogenic	Coding sequence variant, inframe deletion

19 Show/Hide all (19)

miRTarBase ID	miRNA	Experiments	Reference
MIRT017611	hsa-miR-335-5p	Microarray	18185580
MIRT1300300	hsa-miR-138	CLIP-seq
MIRT1300301	hsa-miR-2467-3p	CLIP-seq
MIRT1300302	hsa-miR-3184	CLIP-seq
MIRT1300303	hsa-miR-3202	CLIP-seq
MIRT1300304	hsa-miR-330-3p	CLIP-seq
MIRT1300305	hsa-miR-423-5p	CLIP-seq
MIRT1300306	hsa-miR-4330	CLIP-seq
MIRT1300307	hsa-miR-4446-3p	CLIP-seq
MIRT1300308	hsa-miR-4492	CLIP-seq
MIRT1300309	hsa-miR-4498	CLIP-seq
MIRT1300310	hsa-miR-4514	CLIP-seq
MIRT1300311	hsa-miR-4645-5p	CLIP-seq
MIRT1300312	hsa-miR-4673	CLIP-seq
MIRT1300313	hsa-miR-4688	CLIP-seq
MIRT1300314	hsa-miR-4692	CLIP-seq
MIRT1300315	hsa-miR-4747-5p	CLIP-seq
MIRT1300316	hsa-miR-548q	CLIP-seq
MIRT1300317	hsa-miR-762	CLIP-seq

Transcription factor	Regulation	Reference
JUN	Unknown	9690204
POU1F1	Unknown	8914017
PPARG	Repression	18483152
PPARG	Unknown	17785633

52 Show/Hide all (52)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001822	Process	Kidney development	IMP	16116425
GO:0001823	Process	Mesonephros development	IEA
GO:0002003	Process	Angiotensin maturation	IBA
GO:0002003	Process	Angiotensin maturation	IDA	1320019, 11432860
GO:0002003	Process	Angiotensin maturation	IDA	12045255
GO:0002003	Process	Angiotensin maturation	IEA
GO:0002003	Process	Angiotensin maturation	TAS
GO:0002016	Process	Regulation of blood volume by renin-angiotensin	IEA
GO:0002018	Process	Renin-angiotensin regulation of aldosterone production	IEA
GO:0002034	Process	Maintenance of blood vessel diameter homeostasis by renin-angiotensin	IDA	1567413, 26420482
GO:0004175	Function	Endopeptidase activity	IEA
GO:0004190	Function	Aspartic-type endopeptidase activity	EXP	4289389, 4322712, 4330891, 4360430, 12045255
GO:0004190	Function	Aspartic-type endopeptidase activity	IBA
GO:0004190	Function	Aspartic-type endopeptidase activity	IDA	12045255, 20927107
GO:0004190	Function	Aspartic-type endopeptidase activity	IEA
GO:0005102	Function	Signaling receptor binding	IEA
GO:0005102	Function	Signaling receptor binding	IPI	12045255
GO:0005159	Function	Insulin-like growth factor receptor binding	IEA
GO:0005515	Function	Protein binding	IPI	20927107
GO:0005576	Component	Extracellular region	IEA
GO:0005576	Component	Extracellular region	IEA
GO:0005576	Component	Extracellular region	TAS
GO:0005615	Component	Extracellular space	IBA
GO:0005615	Component	Extracellular space	IDA	12045255
GO:0005615	Component	Extracellular space	IDA	12045255, 26322847
GO:0005615	Component	Extracellular space	IEA
GO:0005886	Component	Plasma membrane	TAS
GO:0006508	Process	Proteolysis	IDA	12045255
GO:0006508	Process	Proteolysis	IEA
GO:0008217	Process	Regulation of blood pressure	IEA
GO:0008217	Process	Regulation of blood pressure	IEA
GO:0008217	Process	Regulation of blood pressure	TAS	7584914
GO:0008233	Function	Peptidase activity	IDA	12045255
GO:0008233	Function	Peptidase activity	IEA
GO:0008584	Process	Male gonad development	IEA
GO:0009410	Process	Response to xenobiotic stimulus	IEA
GO:0009755	Process	Hormone-mediated signaling pathway	IEA
GO:0010467	Process	Gene expression	IEA
GO:0016020	Component	Membrane	IEA
GO:0016787	Function	Hydrolase activity	IEA
GO:0032496	Process	Response to lipopolysaccharide	IEA
GO:0035902	Process	Response to immobilization stress	IEA
GO:0038166	Process	Angiotensin-activated signaling pathway	IDA	1567413
GO:0042756	Process	Drinking behavior	IEA
GO:0043408	Process	Regulation of MAPK cascade	IDA	12045255
GO:0045177	Component	Apical part of cell	IDA	26322847
GO:0048469	Process	Cell maturation	IEA
GO:0050435	Process	Amyloid-beta metabolic process	IEA
GO:0051591	Process	Response to cAMP	IEA
GO:0070305	Process	Response to cGMP	IEA
GO:0071466	Process	Cellular response to xenobiotic stimulus	IEA
GO:0072051	Process	Juxtaglomerular apparatus development	IEA

MIM	HGNC	e!Ensembl
179820	9958	ENSG00000143839

P00797

Protein name

Renin (EC 3.4.23.15) (Angiotensinogenase)

Protein function

Renin is a highly specific endopeptidase, whose only known function is to generate angiotensin I from angiotensinogen in the plasma, initiating a cascade of reactions that produce an elevation of blood pressure and increased sodium retention by

PDB

1BBS , 1BIL , 1BIM , 1HRN , 1RNE , 2BKS , 2BKT , 2FS4 , 2G1N , 2G1O , 2G1R , 2G1S , 2G1Y , 2G20 , 2G21 , 2G22 , 2G24 , 2G26 , 2G27 , 2I4Q , 2IKO , 2IKU , 2IL2 , 2REN , 2V0Z , 2V10 , 2V11 , 2V12 , 2V13 , 2V16 , 2X0B , 3D91 , 3G6Z , 3G70 , 3G72 , 3GW5 , 3K1W , 3KM4 , 3O9L , 3OAD , 3OAG , 3OOT , 3OQF , 3OQK , 3OWN , 3Q3T , 3Q4B , 3Q5H , 3SFC , 3VCM , 3VSW

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00026	Asp	85 → 405	Eukaryotic aspartyl protease	Family
PF07966	A1_Propeptide	31 → 51	A1 Propeptide	Motif

Sequence

MDGWRRMPRWGLLLLLWGSCTFGLPTDTTTFKRIFLKRMPSIRESLKERGVDMARLGPEW
SQPMKRLTLGNTTSSVILTNYMDTQYYGEIGIGTPPQTFKVVFDTGSSNVWVPSSKCSRL
YTACVYHKLFDASDSSSYKHNGTELTLRYSTGTVSGFLSQDIITVGGITVTQMFGEVTEM
PALPFMLAEFDGVVGMGFIEQAIGRVTPIFDNIISQGVLKEDVFSFYYNRDSENSQSLGG
QIVLGGSDPQHYEGNFHYINLIKTGVWQIQMKGVSVGSSTLLCEDGCLALVDTGASYISG
STSSIEKLMEALGAKKRLFDYVVKCNEGPTLPDISFHLGGKEYTLTSADYVFQESYSSKK
LCTLAIHAMDIPPPTGPTWALGATFIRKFYTEFDRRNNRIGFALAR

Sequence length

406

Interactions

View interactions

KEGG Pathway	Reactome Pathway
Renin-angiotensin system	Metabolism of Angiotensinogen to Angiotensins
Renin secretion
Diabetic cardiomyopathy

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Familial juvenile hyperuricemic nephropathy type 2	Likely pathogenic; Pathogenic	rs756544334, rs121917741, rs1571652012, rs121917743, rs397514690, rs1658347337	RCV005005905 RCV001281274 RCV000014005 RCV000014006 RCV000505648 RCV002496686 RCV001281275 View all (2 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
HYPERPRORENINEMIA, FAMILIAL	Pathogenic	rs121917740	RCV000014002	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Renal tubular dysgenesis	Pathogenic; Likely pathogenic	rs2102314045, rs121917741, rs121917742, rs397514690, rs397514691	RCV001844394 RCV000014003 RCV000014004 RCV000043472 RCV000043473	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Renal tubular dysgenesis of genetic origin	Likely pathogenic; Pathogenic	rs756544334, rs121917741, rs1571652012, rs397514690	RCV005005905 RCV002496353 RCV002496354 RCV002496686	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Phenotype Name	Clinical Significance	Source	Reference	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal. Show/Hide Unknown Diseases (42)
ALZHEIMER DISEASE	—	GWAS catalog	40708016	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ANEMIA	—	CTD, Disgenet CTD, Disgenet	3524928	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTOSOMAL DOMINANT TUBULOINTERSTITIAL KIDNEY DISEASE	—	Disgenet	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BARTTER DISEASE	—	Disgenet	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BARTTER SYNDROME	—	CTD	15976003, 3519017, 929154	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BIPOLAR DISORDER	—	Disgenet	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOMEGALY	—	CTD	20429690, 20811386	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGESTIVE HEART FAILURE	—	Disgenet	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEMENTIA	—	GWAS catalog	40708016	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEPRESSIVE DISORDER	—	Disgenet	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ESSENTIAL HYPERTENSION	—	Disgenet	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEART FAILURE	—	CTD, Disgenet CTD, Disgenet	1647690, 20811386, 7034517	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMORRHAGE	—	CTD	6991409	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatoblastoma	Uncertain significance	ClinVar	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERTENSION	—	CTD	1071603, 1149188, 11501062, 12414515, 12600921, 17537837, 18679781, 18847324, 19770776, 19934029, 20429690, 20811386, 21393355, 45830, 62162, 6381767, 7721401, 998518	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERTENSION, MALIGNANT	—	CTD	2493837	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERTENSIVE DISEASE	—	Disgenet	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERTROPHY, LEFT VENTRICULAR	—	CTD	18679781, 8349331	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERURICEMIA, ANEMIA, RENAL FAILURE SYNDROME	—	Disgenet	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERURICEMIC NEPHROPATHY, FAMILIAL JUVENILE 2	—	CTD, Disgenet CTD, Disgenet	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPOTENSION	—	CTD	11171655, 3536153, 6251761	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Intellectual disability, X-linked 61	Uncertain significance	ClinVar	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
KIDNEY DISEASES	—	CTD, Disgenet CTD, Disgenet	12414515, 6156352, 8723173	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Kidney disorder	Uncertain significance; Benign; Likely benign	ClinVar	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LEFT VENTRICULAR HYPERTROPHY	—	Disgenet	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LIDDLE SYNDROME	—	CTD, Disgenet CTD, Disgenet	12185466	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LIVER CIRRHOSIS	—	CTD, Disgenet CTD, Disgenet	15613622	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MALIGNANT HYPERTENSION	—	Disgenet	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MENTAL DEPRESSION	—	Disgenet	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MYOCARDIAL INFARCTION	—	CTD, Disgenet CTD, Disgenet	1668233	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEPHROSIS	—	CTD, Disgenet CTD, Disgenet	2046802, 6358456	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nephrotic syndrome	Uncertain significance	ClinVar Disgenet	—	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
OSTEOPOROSIS	—	CTD, Disgenet CTD, Disgenet	18847324	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PORTAL HYPERTENSION	—	Disgenet	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROTEINURIA	—	CTD	2046802, 464098	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PSORIASIS	—	CTD, Disgenet CTD, Disgenet	3540694	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
REN-related disorder	Uncertain significance; Benign; Conflicting classifications of pathogenicity; Likely benign	ClinVar	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SUBSTANCE WITHDRAWAL SYNDROME	—	CTD	28415	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Benign	ClinVar	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TONNE-KALSCHEUER SYNDROME	—	Disgenet	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TUBULOINTERSTITIAL KIDNEY DISEASE, AUTOSOMAL DOMINANT 4	—	HPO	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
UNIPOLAR DEPRESSION	—	Disgenet	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Related Gene	Shared Diseases	Shared Disease Names	Shared Pathways	Shared Pathway Names	Shared Evidence Sources	Shared Evidence Names
ACE	7	["Anemia","Depression","Liver cirrhosis","Congestive heart failure","Hypertrophy","Hypotension","Left ventricular disease"]	4	["Renin-angiotensin system","Renin secretion","Diabetic cardiomyopathy","Metabolism of Angiotensinogen to Angiotensins"]	14	["Disgenet (Anemia)","Disgenet (Depression)","Disgenet (Kidney disease)","Disgenet (Congestive heart failure)","CTD (Hypertension)","CTD (Heart failure)","Disgenet (Heart failure)","CTD (Hypertrophy)","CTD (Hypotension)","CTD (Kidney disease)","Disgenet (Left ventricular disease)","Disgenet (Liver cirrhosis)"]
AGT	10	["Anemia","Cardiomegaly","Liver cirrhosis","Congestive heart failure","Malignant hypertension","Hypertrophy","Hypotension","Nephrotic syndrome","Left ventricular disease","Proteinuria"]	4	["Renin-angiotensin system","Renin secretion","Diabetic cardiomyopathy","Metabolism of Angiotensinogen to Angiotensins"]	21	["Disgenet (Anemia)","CTD (Anemia)","CTD (Cardiomegaly)","Disgenet (Kidney disease)","Disgenet (Congestive heart failure)","CTD (Hypertension)","CTD (Heart failure)","Disgenet (Heart failure)","CTD (Malignant hypertension)","CTD (Hypertrophy)","CTD (Hypotension)","Disgenet (Nephrotic syndrome)"]
CMA1	2	["Hypertrophy","Left ventricular disease"]	3	["Renin-angiotensin system","Diabetic cardiomyopathy","Metabolism of Angiotensinogen to Angiotensins"]	3	["CTD (Hypertension)","CTD (Hypertrophy)","Disgenet (Left ventricular disease)"]
UMOD	5	["Anemia","Tubulointerstitial kidney disease","Juvenile hyperuricemic nephropathy","Hyperuricemia","Hyperuricemic nephropathy"]	0	[]	7	["Disgenet (Tubulointerstitial kidney disease)","Disgenet (Kidney disease)","CTD (Hypertension)","ClinVar (Juvenile hyperuricemic nephropathy)","Disgenet (Hyperuricemic nephropathy)","CTD (Kidney disease)","HPO (Tubulointerstitial kidney disease)"]
NPPA	6	["Cardiomegaly","Liver cirrhosis","Congestive heart failure","Hypertrophy","Hypotension","Left ventricular disease"]	1	["Renin secretion"]	12	["CTD (Cardiomegaly)","Disgenet (Congestive heart failure)","CTD (Hypertension)","CTD (Heart failure)","Disgenet (Heart failure)","CTD (Hypertrophy)","CTD (Hypotension)","Disgenet (Left ventricular disease)","CTD (Liver cirrhosis)","Disgenet (Liver cirrhosis)","CTD (Myocardial infarction)","Disgenet (Myocardial infarction)"]

REN (renin)

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