REN (renin)

Gene
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
5972
Gene name Gene Name - the full gene name approved by the HGNC.
Renin
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
REN
Synonyms (NCBI Gene) Gene synonyms aliases
ADTKD4, HNFJ2, RTD
Chromosome Chromosome number
1
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
1q32.1
Summary Summary of gene provided in NCBI Entrez Gene.
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.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
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
miRNA miRNA information provided by mirtarbase database.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
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
Transcription factors
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(4)
Transcription factor Regulation Reference
JUN Unknown 9690204
POU1F1 Unknown 8914017
PPARG Repression 18483152
PPARG Unknown 17785633
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
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
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
179820 9958 ENSG00000143839
Protein
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID 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
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (1)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Renal Tubular Dysgenesis Of Genetic Origin Renal tubular dysgenesis rs397514690, rs397514691, rs121917741, rs121917742 N/A
Show/Hide Unknown Diseases (1)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Hyperuricemic Nephropathy familial juvenile hyperuricemic nephropathy type 2 N/A N/A GenCC
Show/Hide Text Mining Associations (232)
Associations from Text Mining Disease 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