REN (renin)

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
SNPs SNP information provided by dbSNP.
8
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
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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
miRNA miRNA information provided by mirtarbase database.
19
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
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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
Transcription factors Transcription factors information provided by TRRUST V2 database.
4
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
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Transcription factor Regulation Reference
JUN Unknown 9690204
POU1F1 Unknown 8914017
PPARG Repression 18483152
PPARG Unknown 17785633
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
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Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
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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
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
179820 9958 ENSG00000143839
Protein Protein information from UniProt database.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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
Sequence length 406
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
  KEGG  Reactome
  Renin-angiotensin system
Renin secretion
Diabetic cardiomyopathy 		  Metabolism of Angiotensinogen to Angiotensins
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
174
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (4)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Familial juvenile hyperuricemic nephropathy type 2 Likely pathogenic; Pathogenic rs756544334, rs121917741, rs1571652012, rs121917743, rs397514690, rs1658347337 RCV005005905
RCV001281274
RCV000014005
RCV000014006
RCV000505648
RCV002496686
RCV001281275
HYPERPRORENINEMIA, FAMILIAL Pathogenic rs121917740 RCV000014002
Renal tubular dysgenesis Pathogenic; Likely pathogenic rs2102314045, rs121917741, rs121917742, rs397514690, rs397514691 RCV001844394
RCV000014003
RCV000014004
RCV000043472
RCV000043473
Renal tubular dysgenesis of genetic origin Likely pathogenic; Pathogenic rs756544334, rs121917741, rs1571652012, rs397514690 RCV005005905
RCV002496353
RCV002496354
RCV002496686
Show/Hide Unknown Diseases (6)
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Hepatoblastoma Uncertain significance rs547414447 RCV001843911
Intellectual disability, X-linked 61 Uncertain significance rs753950998 RCV003989850
Kidney disorder Uncertain significance; Benign; Likely benign rs371704012, rs1422151114, rs1156882578, rs5707, rs11571117, rs5706, rs61746500 RCV002294614
RCV002294629
RCV002294681
RCV002294120
RCV002294247
RCV002294248
RCV002294249
Nephrotic syndrome Uncertain significance rs557010306 RCV001328255
Show/Hide Text Mining Associations (232)
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Acute Kidney Injury Associate 24009222
Adenocarcinoma Associate 33276865
Adrenal Hyperplasia Congenital Associate 31666050, 36553457
Adrenal hyperplasia congenital type 5 Associate 29278670, 38206738
Albuminuria Associate 26772976
Alzheimer's disease without Neurofibrillary tangles Associate 37681524
Anemia Associate 19664745, 21084044, 21903317, 32750457
Anemia Hemolytic Associate 28701203
Anemia Sickle Cell Associate 28880908
Angina Unstable Associate 11451295, 28281389