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Aliases for REN Gene

Aliases for REN Gene

  • Renin 2 3 3 5
  • Angiotensinogenase 3 4
  • EC 3.4.23.15 4 58
  • Angiotensin-Forming Enzyme 3
  • Renin Precursor, Renal 3
  • EC 3.4.23 58
  • HNFJ2 3

External Ids for REN Gene

Previous GeneCards Identifiers for REN Gene

  • GC01M201847
  • GC01M199584
  • GC01M200484
  • GC01M201301
  • GC01M200855
  • GC01M202390
  • GC01M175289

Summaries for REN Gene

Entrez Gene Summary for REN Gene

  • Renin catalyzes the first step in the activation pathway of angiotensinogen--a cascade that can result in aldosterone release,vasoconstriction, and increase in blood pressure. Renin, an aspartyl protease, cleaves angiotensinogen to form angiotensin I, which is converted to angiotensin II by angiotensin I converting enzyme, an important regulator of blood pressure and electrolyte balance. Transcript variants that encode different protein isoforms and that arise from alternative splicing and the use of alternative promoters have been described, but their full-length nature has not been determined. Mutations in this gene have been shown to cause familial hyperproreninemia. [provided by RefSeq, Jul 2008]

GeneCards Summary for REN Gene

REN (Renin) is a Protein Coding gene. Diseases associated with REN include Hyperuricemic Nephropathy, Familial Juvenile 2 and Renal Tubular Dysgenesis. Among its related pathways are Peptide hormone metabolism and Angiogenesis (CST). GO annotations related to this gene include receptor binding and endopeptidase activity. An important paralog of this gene is CTSD.

UniProtKB/Swiss-Prot for REN Gene

  • 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 the kidney.

Gene Wiki entry for REN Gene

Additional gene information for REN Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for REN Gene

Genomics for REN Gene

Regulatory Elements for REN Gene

Enhancers for REN Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH01H204171 0.9 ENCODE 11.4 +18.2 18150 1 FOXA2 RARA YY1 ZNF766 FOS ZBTB11 CEBPB USF2 ELF1 ZNF592 SNRPE ZC3H11A ZBED6 GOLT1A ERLNC1 REN SOX13 ENSG00000231691 PLEKHA6 MDM4
GH01H204162 0.9 ENCODE 10.3 +27.7 27707 0 ELF3 PKNOX1 RB1 ARID4B SIN3A RAD21 RFX5 GLIS2 ZNF143 ATF7 REN GC01M204154 ENSG00000225522
GH01H204189 1 Ensembl ENCODE 8.7 -0.6 -628 2 JUN CEBPG ZIC2 ZFHX2 POLR2A CREM EZH2 SP5 HLF CEBPB ETNK2 ERLNC1 ENSG00000231691 PLEKHA6 REN NFASC KISS1
GH01H204193 1.2 Ensembl ENCODE 6 -6.5 -6462 6 YBX3 PKNOX1 ZNF473 ZSCAN4 SIN3A YBX1 NFXL1 RAD21 ZNF155 TCF12 ZC3H11A MDM4 ZBED6 PPP1R15B SNRPE ETNK2 ERLNC1 RPL13AP11 ENSG00000231691 PLEKHA6
GH01H204144 1.2 ENCODE dbSUPER 4.9 +43.8 43825 4 FOXA2 PKNOX1 MLX ARID4B DMAP1 YY1 ATF7 SP5 NFYC REST REN ETNK2 ERLNC1
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around REN on UCSC Golden Path with GeneCards custom track

Genomic Location for REN Gene

Chromosome:
1
Start:
204,154,816 bp from pter
End:
204,190,324 bp from pter
Size:
35,509 bases
Orientation:
Minus strand

Genomic View for REN Gene

Genes around REN on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
REN Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for REN Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for REN Gene

Proteins for REN Gene

  • Protein details for REN Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P00797-RENI_HUMAN
    Recommended name:
    Renin
    Protein Accession:
    P00797
    Secondary Accessions:
    • Q6FI38
    • Q6T5C2

    Protein attributes for REN Gene

    Size:
    406 amino acids
    Molecular mass:
    45057 Da
    Quaternary structure:
    • Interacts with ATP6AP2.

    Three dimensional structures from OCA and Proteopedia for REN Gene

    Alternative splice isoforms for REN Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for REN Gene

Selected DME Specific Peptides for REN Gene

P00797:
  • VLGGSDP
  • LKRMPSIRESLKERGVDMARLGPE
  • VVFDTGS
  • IGIGTPPQ
  • LWGSCTFGLP
  • NNRIGFALA
  • TSSVILTNYMDTQYYGEIGIGTPPQTFKVVFDTGSSNVW
  • TVGGITVTQ
  • YTLTSADYV
  • MKGVSVGSSTLLCE
  • DIPPPTGP
  • FIRKFYTEFDR
  • VDTGASYISG
  • FGEVTEMPALPFMLAEFDGVVGMGF
  • LMEALGAK
  • NNRIGFA
  • PTLPDISF

Post-translational modifications for REN Gene

  • Glycosylation at isoforms=271 and Asn141
  • Modification sites at PhosphoSitePlus

Other Protein References for REN Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for REN (REN)

Domains & Families for REN Gene

Gene Families for REN Gene

Human Protein Atlas (HPA):
  • Candidate cardiovascular disease genes
  • Disease related genes
  • Enzymes
  • FDA approved drug targets
  • Predicted secreted proteins

Suggested Antigen Peptide Sequences for REN Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

P00797

UniProtKB/Swiss-Prot:

RENI_HUMAN :
  • Belongs to the peptidase A1 family.
Family:
  • Belongs to the peptidase A1 family.
genes like me logo Genes that share domains with REN: view

Function for REN Gene

Molecular function for REN Gene

GENATLAS Biochemistry:
renin,40kDa,angiotensin-forming enzyme
UniProtKB/Swiss-Prot BiophysicochemicalProperties:
Kinetic parameters: KM=1 uM for angiotensinogen (in absence of ATP6AP2); KM=0.15 uM for angiotensinogen (in presence of membrane-bound ATP6AP2);
UniProtKB/Swiss-Prot CatalyticActivity:
Cleavage of Leu- -Xaa bond in angiotensinogen to generate angiotensin I.
UniProtKB/Swiss-Prot EnzymeRegulation:
Interaction with ATP6AP2 results in a 5-fold increased efficiency in angiotensinogen processing.
UniProtKB/Swiss-Prot 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 the kidney.

Enzyme Numbers (IUBMB) for REN Gene

Phenotypes From GWAS Catalog for REN Gene

Gene Ontology (GO) - Molecular Function for REN Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004175 endopeptidase activity IEA --
GO:0004190 aspartic-type endopeptidase activity IEA,IDA 12045255
GO:0005102 receptor binding IEA,IPI 12045255
GO:0005159 insulin-like growth factor receptor binding IEA --
GO:0008233 peptidase activity IDA,IEA 12045255
genes like me logo Genes that share ontologies with REN: view
genes like me logo Genes that share phenotypes with REN: view

Human Phenotype Ontology for REN Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for REN Gene

MGI Knock Outs for REN:

Animal Model Products

CRISPR Products

miRNA for REN Gene

miRTarBase miRNAs that target REN

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for REN
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

No data available for Transcription Factor Targets and HOMER Transcription for REN Gene

Localization for REN Gene

Subcellular locations from UniProtKB/Swiss-Prot for REN Gene

Secreted. Membrane. Note=Associated to membranes via binding to ATP6AP2.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for REN gene
Compartment Confidence
plasma membrane 5
extracellular 5
lysosome 4
mitochondrion 3
cytosol 3
cytoskeleton 2
peroxisome 2
nucleus 2
endoplasmic reticulum 2
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for REN Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region TAS --
GO:0005615 extracellular space IDA,IEA 12045255
GO:0005622 intracellular IEA --
GO:0005737 cytoplasm IEA --
GO:0005886 plasma membrane TAS --
genes like me logo Genes that share ontologies with REN: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for REN Gene

Pathways & Interactions for REN Gene

genes like me logo Genes that share pathways with REN: view

Pathways by source for REN Gene

1 Cell Signaling Technology pathway for REN Gene
1 BioSystems pathway for REN Gene

SIGNOR curated interactions for REN Gene

Activates:

Gene Ontology (GO) - Biological Process for REN Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001822 kidney development IMP 16116425
GO:0001823 mesonephros development IEA --
GO:0002003 angiotensin maturation TAS,IEA --
GO:0002016 regulation of blood volume by renin-angiotensin IEA --
GO:0002018 renin-angiotensin regulation of aldosterone production IEA --
genes like me logo Genes that share ontologies with REN: view

Drugs & Compounds for REN Gene

(125) Drugs for REN Gene - From: DrugBank, PharmGKB, ApexBio, DGIdb, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Aliskiren Approved, Investigational Pharma inhibitor, Target Direct renin inhibitor 0
Remikiren Approved Pharma inhibitor, Target 0
Minoxidil Approved Pharma Activator, Target 34
N,N-Dimethylformamide Experimental Pharma Target 0
Enalkiren Experimental Pharma Target, inhibitor 0

(47) Additional Compounds for REN Gene - From: Novoseek and HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
sodium
  • Sodium
  • Sodium ion
7440-23-5
angiotensin I
Full agonist, Agonist
Isopentanol
  • 1-Hydroxy-3-methylbutane
  • 2-Methyl-4-butanol
  • 3-Methyl-1-Butanol
  • 3-Methyl-butan-(1)-ol
  • 3-Methyl-Butanol
123-51-3

(6) ApexBio Compounds for REN Gene

Compound Action Cas Number
Acetyl Angiotensinogen (1-14), porcine Angiotensinogen precursor 66641-26-7
Aliskiren Direct renin inhibitor 173334-57-1
Aliskiren Hemifumarate 173334-58-2
Angiotensin III (human, mouse) Aldosterone stimulator 13602-53-4
VTP-27999 renin inhibitor, highly potent and selective 942142-51-0
VTP-27999 Hydrochloride Alkyl Amine Renin inhibitor 1264191-73-2
genes like me logo Genes that share compounds with REN: view

Drug Products

Transcripts for REN Gene

mRNA/cDNA for REN Gene

Unigene Clusters for REN Gene

Renin:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for REN
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

Alternative Splicing Database (ASD) splice patterns (SP) for REN Gene

No ASD Table

Relevant External Links for REN Gene

GeneLoc Exon Structure for
REN
ECgene alternative splicing isoforms for
REN

Expression for REN Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for REN Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for REN Gene

This gene is overexpressed in Kidney - Cortex (x43.6).

Protein differential expression in normal tissues from HIPED for REN Gene

This gene is overexpressed in Fetal ovary (45.5), Kidney (15.6), and Fetal testis (7.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for REN Gene



Protein tissue co-expression partners for REN Gene

NURSA nuclear receptor signaling pathways regulating expression of REN Gene:

REN

SOURCE GeneReport for Unigene cluster for REN Gene:

Hs.3210

Evidence on tissue expression from TISSUES for REN Gene

  • Intestine(4.4)
  • Kidney(4.3)
  • Blood(4)
  • Heart(3.7)
  • Adrenal gland(3.6)
  • Urine(3.4)
  • Nervous system(3.3)
  • Muscle(3.1)
  • Liver(2.4)
  • Lung(2.4)
  • Thyroid gland(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for REN Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • endocrine
  • integumentary
  • nervous
  • reproductive
  • respiratory
  • skeleton
  • urinary
Organs:
Head and neck:
  • brain
  • ear
  • eye
  • face
  • head
  • skull
Thorax:
  • heart
  • lung
Abdomen:
  • kidney
Pelvis:
  • placenta
  • uterus
Limb:
  • ankle
  • digit
  • elbow
  • finger
  • foot
  • hand
  • hip
  • knee
  • lower limb
  • shoulder
  • toe
  • upper limb
  • wrist
General:
  • blood
  • blood vessel
  • red blood cell
genes like me logo Genes that share expression patterns with REN: view

Primer Products

No data available for mRNA Expression by UniProt/SwissProt for REN Gene

Orthologs for REN Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for REN Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia REN 33 34
  • 99.51 (n)
dog
(Canis familiaris)
Mammalia REN 33 34
  • 81.16 (n)
cow
(Bos Taurus)
Mammalia REN 33 34
  • 80.1 (n)
mouse
(Mus musculus)
Mammalia Ren1 33 16 34
  • 77.47 (n)
rat
(Rattus norvegicus)
Mammalia Ren 33
  • 76.17 (n)
oppossum
(Monodelphis domestica)
Mammalia -- 34
  • 57 (a)
OneToMany
-- 34
  • 54 (a)
OneToMany
-- 34
  • 52 (a)
OneToMany
-- 34
  • 51 (a)
OneToMany
-- 34
  • 50 (a)
OneToMany
-- 34
  • 48 (a)
OneToMany
-- 34
  • 42 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia REN 34
  • 52 (a)
OneToOne
chicken
(Gallus gallus)
Aves REN 33 34
  • 65.32 (n)
lizard
(Anolis carolinensis)
Reptilia REN 34
  • 52 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ren 33
  • 60.79 (n)
zebrafish
(Danio rerio)
Actinopterygii ren 33 34
  • 58.95 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG10104 35 33
  • 49.55 (n)
CG5860 35
  • 36 (a)
pcl 35
  • 35 (a)
worm
(Caenorhabditis elegans)
Secernentea asp-3 34
  • 33 (a)
ManyToMany
C11D2.2 35
  • 32 (a)
asp-2 35
  • 31 (a)
F59D6.2 35
  • 29 (a)
F28A12.4 35
  • 26 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes PEP4 34
  • 33 (a)
OneToMany
Species where no ortholog for REN was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for REN Gene

ENSEMBL:
Gene Tree for REN (if available)
TreeFam:
Gene Tree for REN (if available)

Paralogs for REN Gene

Paralogs for REN Gene

(7) SIMAP similar genes for REN Gene using alignment to 1 proteins:

genes like me logo Genes that share paralogs with REN: view

Variants for REN Gene

Sequence variations from dbSNP and Humsavar for REN Gene

SNP ID Clin Chr 01 pos Sequence Context AA Info Type
rs121917742 Pathogenic, Renal tubular dysgenesis (RTD) [MIM:267430] 204,159,399(-) CAACA(A/G)GTGGG reference, missense
rs121917743 Pathogenic, Familial juvenile hyperuricemic nephropathy 2 (HNFJ2) [MIM:613092] 204,166,247(-) GCTGC(G/T)CTGGG reference, missense
rs868694193 Renal tubular dysgenesis (RTD) [MIM:267430] 204,161,355(+) AGTGT(C/T)AAAGA reference, missense
rs121917740 Pathogenic 204,155,078(-) TCATC(C/T)GAAAG reference, stop-gained
rs121917741 Pathogenic 204,162,117(-) AGGAA(C/T)GAGGT reference, stop-gained

Structural Variations from Database of Genomic Variants (DGV) for REN Gene

Variant ID Type Subtype PubMed ID
esv2762138 CNV gain 21179565
esv3588613 CNV loss 21293372

Variation tolerance for REN Gene

Residual Variation Intolerance Score: 24% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.23; 24.68% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for REN Gene

Human Gene Mutation Database (HGMD)
REN
SNPedia medical, phenotypic, and genealogical associations of SNPs for
REN

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for REN Gene

Disorders for REN Gene

MalaCards: The human disease database

(126) MalaCards diseases for REN Gene - From: HGMD, OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
hyperuricemic nephropathy, familial juvenile 2
  • familial juvenile hyperuricemic nephropathy type 2
renal tubular dysgenesis
  • primitive renal tubule syndrome
renal dysplasia
  • renal cell dysplasia
ren-related kidney disease
  • hyperuricemic nephropathy, familial juvenile 2
autosomal dominant tubulointerstitial kidney disease, ren-related
  • hyperuricemic nephropathy, familial juvenile 2
- elite association - COSMIC cancer census association via MalaCards
Search REN in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

RENI_HUMAN
  • Familial juvenile hyperuricemic nephropathy 2 (HNFJ2) [MIM:613092]: A renal disease characterized by juvenile onset of hyperuricemia, slowly progressive renal failure and anemia. {ECO:0000269 PubMed:19664745}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Renal tubular dysgenesis (RTD) [MIM:267430]: Autosomal recessive severe disorder of renal tubular development characterized by persistent fetal anuria and perinatal death, probably due to pulmonary hypoplasia from early-onset oligohydramnios (the Potter phenotype). {ECO:0000269 PubMed:16116425}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for REN

Genetic Association Database (GAD)
REN
Human Genome Epidemiology (HuGE) Navigator
REN
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
REN
genes like me logo Genes that share disorders with REN: view

No data available for Genatlas for REN Gene

Publications for REN Gene

  1. Renin gene polymorphisms and haplotypes, blood pressure, and responses to renin-angiotensin system inhibition. (PMID: 17562974) Moore N … Stanton AV (Hypertension (Dallas, Tex. : 1979) 2007) 3 22 45 60
  2. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 45 60
  3. Human variation in alcohol response is influenced by variation in neuronal signaling genes. (PMID: 20201926) Joslyn G … White RL (Alcoholism, clinical and experimental research 2010) 3 45 60
  4. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PMID: 20628086) Bailey SD … DREAM investigators (Diabetes care 2010) 3 45 60
  5. Confirmation that the renin gene distal enhancer polymorphism REN-5312C/T is associated with increased blood pressure. (PMID: 20160196) Vangjeli C … Stanton AV (Circulation. Cardiovascular genetics 2010) 3 45 60

Products for REN Gene

Sources for REN Gene

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