Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
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

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

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

Show/Hide all (4)

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

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
PF07966	A1_Propeptide	31 → 51	A1 Propeptide	Motif
PF00026	Asp	85 → 405	Eukaryotic aspartyl protease	Family

Sequence

MDGWRRMPRWGLLLLLWGSCTFGLPTDTTTFKRIFLKRMPSIRESLKERGVDMARLGPEW
SQPMKRLTLGNTTSSVILTNYMDTQYYGEIGIGTPPQTFKVVFDTGSSNVWVPSSKCSRL
YTACVYHKLFDASDSSSYKHNGTELTLRYSTGTVSGFLSQDIITVGGITVTQMFGEVTEM
PALPFMLAEFDGVVGMGFIEQAIGRVTPIFDNIISQGVLKEDVFSFYYNRDSENSQSLGG
QIVLGGSDPQHYEGNFHYINLIKTGVWQIQMKGVSVGSSTLLCEDGCLALVDTGASYISG
STSSIEKLMEALGAKKRLFDYVVKCNEGPTLPDISFHLGGKEYTLTSADYVFQESYSSKK
LCTLAIHAMDIPPPTGPTWALGATFIRKFYTEFDRRNNRIGFALAR

Sequence length

406

Interactions

View interactions

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

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)

Show/Hide Causal Diseases (4)

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)

Show/Hide Unknown Diseases (43)

Phenotype Name	Clinical Significance	Source	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.
ALZHEIMER DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ANEMIA	—	CTD, Disgenet CTD, Disgenet	★★★★★ ★★☆☆☆ 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	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BIPOLAR DISORDER	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOMEGALY	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGESTIVE HEART FAILURE	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEMENTIA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEPRESSIVE DISORDER	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIABETES MELLITUS, EXPERIMENTAL	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ESSENTIAL HYPERTENSION	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEART FAILURE	—	CTD, Disgenet CTD, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMORRHAGE	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatoblastoma	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERTENSION	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERTENSION, MALIGNANT	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERTENSIVE DISEASE	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERTROPHY, LEFT VENTRICULAR	—	CTD	★★★★★ ★★☆☆☆ 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	★★★★★ ★★☆☆☆ 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	★★★★★ ★★☆☆☆ 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	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LIVER CIRRHOSIS	—	CTD, Disgenet CTD, Disgenet	★★★★★ ★★☆☆☆ 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	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEPHROSIS	—	CTD, Disgenet CTD, Disgenet	★★★★★ ★★☆☆☆ 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	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PORTAL HYPERTENSION	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROTEINURIA	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PSORIASIS	—	CTD, Disgenet CTD, Disgenet	★★★★★ ★★☆☆☆ 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	★★★★★ ★★☆☆☆ 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

REN (renin)