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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

REN Gene

protein-coding   GIFtS: 68
GCID: GC01M204123

renin

 Explore 205 diseases affiliated with
REN via our new
 Human Malady Compendium 
Biological research products
for REN
    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section

Aliases
Renin1     Angiotensinogenase3
EC 3.4.23.153 8     Renin Precursor, Renal2
HNFJ22 5     Angiotensinogenase3
Angiotensin-Forming Enzyme2     EC 3.4.238

External Ids:    HGNC: 99581   Entrez Gene: 59722   Ensembl: ENSG000001438397   OMIM: 1798205   UniProtKB: P007973   

Export aliases for REN gene to outside databases

Previous GC identifers: GC01M201847 GC01M199584 GC01M200484 GC01M201301 GC01M200855 GC01M202390 GC01M175289


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for REN:
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)

UniProtKB/Swiss-Prot: RENI_HUMAN, P00797
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

Gene Wiki entry for REN (Renin)


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000001.10  NC_018912.1  NT_004487.19  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the REN gene promoter:
         c-Fos   CREB   AP-1   deltaCREB   ATF-2   c-Jun   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidREN promoter sequence
   Search SABiosciences Chromatin IP Primers for REN

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat REN


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 1q32   Ensembl cytogenetic band:  1q32.1   HGNC cytogenetic band: 1q32

REN Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
REN gene location

GeneLoc information about chromosome 1         GeneLoc Exon Structure

GeneLoc location for GC01M204123:  view genomic region     (about GC identifiers)

Start:
204,123,944 bp from pter      End:
204,135,465 bp from pter
Size:
11,522 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: RENI_HUMAN, P00797 (See protein sequence)
Recommended Name: Renin precursor  
Size: 406 amino acids; 45057 Da
Subunit: Interacts with ATP6AP2
Subcellular location: Secreted. Membrane. Note=Associated to membranes via binding to ATP6AP2
6/61 PDB 3D structures from and Proteopedia for REN (see all 61):
1BBS (3D)        1BIL (3D)        1BIM (3D)        1HRN (3D)        1RNE (3D)        2BKS (3D)    
Secondary accessions: Q6FI38 Q6T5C2
Alternative splicing: 2 isoforms:  P00797-1   P00797-2   

Explore the universe of human proteins at neXtProt for REN: NX_P00797

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_P00797

  • 4/17 DME Specific Peptides for REN (P00797) (see all 17)
     VLGGSDP  VVFDTGS  NNRIGFA  DIPPPTGP 

    REN Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_000528.1  
    ENSEMBL proteins: 
     ENSP00000272190   ENSP00000356163  
    Reactome Protein details: P00797
    Human Recombinant Protein Products: 
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    Novus Biologicals REN Protein
    Novus Biologicals REN Lysate
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    Uscn Proteins for REN

    Gene Ontology (GO): 4 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005615extracellular space IDA12045255
    GO:0005622intracellular ----
    GO:0016020membrane IEA--
    GO:0044444cytoplasmic part IEA--


    REN for ontologies           About GeneDecksing



    REN Antibody Products: 
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    Uscn ELISAs and CLIAs for REN


    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    REN for domains           About GeneDecksing

    4 InterPro domains/families:
     IPR021109 Peptidase_aspartic
     IPR001969 Peptidase_aspartic_AS
     IPR012848 Propep_A1
     IPR001461 Peptidase_A1

    Graphical View of Domain Structure for InterPro Entry P00797

    ProtoNet protein and cluster: P00797

    1 Blocks protein family: IPB001461 Pepsin (A1) aspartic protease family signature

    UniProtKB/Swiss-Prot: RENI_HUMAN, P00797
    Similarity: Belongs to the peptidase A1 family


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section

    Function Summary:

         UniProtKB/Swiss-Prot: RENI_HUMAN, P00797
    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
    Catalytic activity: Cleavage of Leu- -Xaa bond in angiotensinogen to generate angiotensin I
    Enzyme regulation: Interaction with ATP6AP2 results in a 5-fold increased efficiency in angiotensinogen processing
    Biophysicochemical properties: Kinetic parameters: KM=1 uM for angiotensinogen (in absence of ATP6AP2); KM=0.15 uM for
    angiotensinogen (in presence of membrane-bound ATP6AP2);

         Genatlas biochemistry entry for REN:
    renin,40kDa,angiotensin-forming enzyme

    Enzyme Numbers (IUBMB): EC 3.4.23.151 2 EC 3.4.232

    miRNA
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    hsa-miR-1264 hsa-miR-330-3p
    SwitchGear 3'UTR luciferase reporter plasmidREN 3' UTR sequence
    Inhib. RNA
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for REN

    Gene Ontology (GO): 5 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004175endopeptidase activity ----
    GO:0004190aspartic-type endopeptidase activity IDA12045255
    GO:0005102receptor binding IPI12045255
    GO:0005159insulin-like growth factor receptor binding IEA--
    GO:0008233peptidase activity IDA12045255


    REN for ontologies           About GeneDecksing


    1 GenomeRNAi human phenotype for REN:
     Increased number of cells in m 

    Animal Models:
         Mouse knock-outs for REN: Ren1tm1Tkh Ren1tm1Bjm Ren1tm3Gom Ren1tm1Mgfs
         12 MGI mutant phenotypes (inferred from 9 alleles(MGI details for Ren1):
     behavior/neurological  cardiovascular system  growth/size  hematopoietic system  homeostasis/metabolism 
     immune system  mortality/aging  muscle  nervous system  normal 
     renal/urinary system  reproductive system 

    REN for phenotypes           About GeneDecksing


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways - 5/8 super-pathways (see all 8About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Agents Acting on the Renin-Angiotensin System Pathway, Pharmacodynamics
    ACE Inhibitor Pathway, Pharmacodynamics1.00
    ACE Inhibitor Pathway0.85
    Agents Acting on the Renin-Angiotensin System Pathway, Pharmacodynamics1.00
    2Renin-angiotensin system
    Renin-angiotensin system1.00
    Metabolism of Angiotensinogen to Angiotensins0.48
    3Protein Stability
    Protein Stability1.00
    4Angiogenesis
    Angiogenesis1.00
    5Selected targets of CREB1
    Selected targets of CREB11.00

    Pathway sources
    See GeneCards unified pathways
    Show all pathways

    1 EMD Millipore Pathway for REN
        Selected targets of CREB1

    1 Downloadable PowerPoint Slide of QIAGEN Pathway Central Maps for REN
        Renin-Angiotensin Pathway

    2 Cell Signaling Technology (CST) Pathways for REN
        Angiogenesis
    Protein Stability

    1 BioSystems Pathway for REN 
        ACE Inhibitor Pathway

    3        Reactome Pathways for REN
        Metabolism of Angiotensinogen to Angiotensins
    Metabolism of proteins
    Peptide hormone metabolism

    2 PharmGKB Pathways for REN
        ACE Inhibitor Pathway, Pharmacodynamics
    Agents Acting on the Renin-Angiotensin System Pathway, Pharmacodynamics

    1         Kegg Pathway  (Kegg details for REN):
        Renin-angiotensin system


    REN for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for REN

    STRING Interaction Network Preview (showing 5 interactants - click image to see 9)

    5/10 Interacting proteins for REN (P007972, 3 ENSP000002721904) via UniProtKB, MINT, STRING, and/or I2D (see all 10)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    KCTD15Q96SI12, 3, ENSP000003943904MINT-65369 I2D: score=5 STRING: ENSP00000394390
    ATP6AP2O757873, ENSP000003676974I2D: score=2 STRING: ENSP00000367697
    M6PRP206453, ENSP000000004124I2D: score=1 STRING: ENSP00000000412
    PCSK1P291203, ENSP000003080244I2D: score=1 STRING: ENSP00000308024
    PCSK5Q928243, ENSP000003659434I2D: score=1 STRING: ENSP00000365943
    About this table

    Gene Ontology (GO): 5/20 biological process terms (GO ID links to tree view) (see all 20):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001822kidney development IMP16116425
    GO:0001823mesonephros development IEA--
    GO:0002003angiotensin maturation IDA12045255
    GO:0002016regulation of blood volume by renin-angiotensin ----
    GO:0002018renin-angiotensin regulation of aldosterone production IEA--


    REN for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    REN for compounds           About GeneDecksing

    EMD Millipore small molecules for REN:
    Small Molecule - inhibitor
    Enzo Life Sciences drugs & compounds for REN

    Browse Tocris compounds for REN

    1 HMDB Compound for REN    About this table
    CompoundSynonyms CAS #PubMed Ids
    SodiumSodium (see all 2)7440-23-5--

    10/18 DrugBank Compounds for REN (see all 18)    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    AliskirenRasilez (see all 2)173334-57-1targetinhibitor11799102 16467656 16965731 16508564 11752352 12927775
    Remikiren-- 126222-34-2targetinhibitor8206619 7769797 11752352 7994817 8319997 10583449
    1-Hydroxy-2-Amino-3-Cyclohexylpropane-- --target--17139284 17016423 10592235
    1-Hydroxy-3-Methylbutane-- --target--17139284 17016423 10592235
    1-Methyl-2-Oxy-5,5-Dimethyl Pyrrolidine-- --target--17139284 17016423 10592235
    2-Cyclopropylmethylenepropanal-- --target--17139284 17016423 10592235
    3-Phenyl-1,2-Propandiol-- --target--17139284 17016423 10592235
    Dimethylformamide-- 68-12-2target--17139284 17016423 10592235
    (2S)-6-(2,4-DIAMINO-6-ETHYLPYRIMIDIN-5-YL)-2-(3,5-DIFLUOROPHENYL)-4-(3-METHOXYPROPYL)-2H-1,4-BENZOXAZIN-3(4H)-ONE-- --target--10592235
    2-Methyl-3-(2-Aminothiazolo)Propanal-- --target--10592235

    10/145 Novoseek chemical compound relationships for REN gene (see all 145)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    aliskiren 96.6 412 18981317 (6), 18388329 (5), 12927775 (4), 17318797 (4) (see all 99)
    remikiren 88.9 40 8498974 (4), 8064166 (3), 8730920 (2), 8491068 (2) (see all 20)
    enalkiren 86.1 20 2190927 (2), 2013477 (2), 1705633 (2), 8319997 (2) (see all 12)
    sodium 84.7 443 9369279 (7), 8567042 (3), 8411837 (3), 10677399 (3) (see all 99)
    captopril 80.1 155 8021469 (5), 1663967 (3), 7910062 (3), 8834702 (3) (see all 99)
    norepinephrine 78 382 18087164 (6), 2406102 (4), 8420299 (3), 16174881 (3) (see all 99)
    tetrahydroaldosterone 77.1 2 12850384 (1), 8639013 (1)
    fludrocortisone 75.2 11 14597859 (2), 11244008 (2), 10469007 (1), 15179565 (1) (see all 9)
    aldosterone 18-glucuronide 72.8 3 12850384 (2), 8639013 (1)
    spironolactone 72.6 32 17490489 (4), 10594479 (4), 9075669 (3), 15745200 (2) (see all 16)

    1 PharmGKB related drug/compound annotation for REN gene
    Drug/compound PharmGKB Annotation
    muraglitazarCA  
    About this table

    Search CenterWatch for drugs/clinical trials and news about REN / RENI 

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for REN gene: 
    NM_000537.3  

    Unigene Cluster for REN:

    Renin
    Hs.3210  [show with all ESTs]
    Unigene Representative Sequence: NM_000537
    2 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000272190 ENST00000367195(uc001haq.2)

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      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat REN

    Additional cDNA sequence: 

    AF117822.1 BC033474.1 BC047752.1 CR536498.1 X00063.1 

    2 DOTS entries:

    DT.411947  DT.121384325 

    24/47 AceView cDNA sequences (see all 47):

    AW771349 AW445055 BX108221 CB045004 CB044030 CB044993 BM543760 BI759718 
    BC047752 AW513938 CB044002 CR536498 CB044992 CB853064 BC033474 CB044005 
    AW513368 CB044006 AW513666 NM_000537 CB045283 BI517900 AW615180 AI480334 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    REN expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: --

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)

    About this image

    REN expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    4 LifeMap In Vivo Development Anatomical Compartments/Cells 
    Tissue Anatomical Compartment CellCategory (developmental path)
    KidneyAfferent ArterioleJuxtaglomerular CellsKidney, Smooth Muscle
    BrainMedulla OblongataBrain
    Neural TubeMetencephalonNeural Tube
    TestisTestis InterstitiumTestis
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization

    See REN Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for REN

    SOURCE GeneReport for Unigene cluster: Hs.3210
        SABiosciences Expression via Pathway-Focused PCR Array including REN: 
              Hypertension in human mouse rat

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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for REN

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of animals.

    Orthologs for REN gene from 5/13 species (see all 13)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    chicken
    (Gallus gallus)
    Aves LOC4311671 renin-like 64.37(n)
    55.82(a)
      431167  XM_003642739.1  XP_003642787.1 
    lizard
    (Anolis carolinensis)
    Reptilia REN6
    --
    52(a)
    1 ↔ 1
    4(117848426-117861183)
    zebrafish
    (Danio rerio)
    Actinopterygii ren1 renin 58.95(n)
    53.46(a)
      405786  NM_212860.1  NP_998025.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG101041 , 3 cathepsin D3
    CG101041
    39(a)
    (best of 3)3
    49.55(n)1
    40.81(a)1
      51A13
    366021  NM_137117.11  NP_610961.11 
    worm
    (Caenorhabditis elegans)
    Secernentea C11D2.23 protease 32(a)
    (best of 4)
      IV(6185340-6189393)   --


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for REN gene
    BACE12  CTSD2  PGA32  BACE22  NAPSA2  ENSG000002506442  CTSE2  PGC2  
    PGA52  ENSG000002659692  PGA42  
    7 SIMAP similar genes for REN using alignment to 1 protein entry:     RENI_HUMAN:
    CTSD    CTSE    NAPSA    PGA3    PGC    PGA4
    PGA5

    REN for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/306 NCBI SNPs in REN are shown (see all 306    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 1 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1219177411,2
    Cpathogenic204131245(-) AGGAAC/TGAGGT 2 R * stg11Minor allele frequency- T:0.00EU 1323
    rs115711271,2
    C--204123461(-) CTTTAC/TAGGTG 1 -- int13Minor allele frequency- T:0.01NS 236
    rs115711261,2
    C,F,--204123643(-) CTGAGT/CTCAGA 1 -- int17Minor allele frequency- C:0.02NS WA EA 658
    rs115710931,2
    C,F,H,--204123671(-) AAGTTC/GTCCCA 1 -- int133Minor allele frequency- G:0.08NS EA NA 4094
    rs1881336941,2
    --204123731(+) TAGAGA/GGAGCT 1 -- int10--------
    rs1809374841,2
    --204123744(+) GTTCCG/TGCTCT 1 -- int10--------
    rs115711251,2
    C--204123830(-) CTTGCG/ATGCAG 1 -- int13Minor allele frequency- A:0.01NS 236
    rs1479316551,2
    --204123844(+) CTGTGA/CGCTAG 1 -- int10--------
    rs1411888181,2
    --204123864(+) TAGCTC/TGTCTG 1 -- int10--------
    rs115711241,2
    C--204123999(-) CCCTGC/TACCAG 1 -- ut31 ese35Minor allele frequency- T:0.01NS NA 238

    HapMap Linkage Disequilibrium report for REN (204123944 - 204135465 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for REN: --
    Human Gene Mutation Database (HGMD): REN

    SABiosciences Cancer Mutation PCR Assays
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    DNA2.0 Custom Variant and Variant Library Synthesis for REN

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

    REN for disorders           About GeneDecksing

    OMIM gene information: 179820   
    OMIM disorders: 267430  613092  
    UniProtKB/Swiss-Prot: RENI_HUMAN, P00797
  • Defects in REN are a cause of renal tubular dysgenesis (RTD) [MIM:267430]. RTD is an 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)
  • Defects in REN are the cause of familial juvenile hyperuricemic nephropathy type 2 (HNFJ2) [MIM:613092]. It is
  • a renal disease characterized by juvenile onset of hyperuricemia, slowly progressive renal failure and anemia

    20/205 diseases for REN (see all 205):    About MalaCards
    hyperproreninemia    17-alpha-hydroxylase deficiency    glucocorticoid-remediable aldosteronism    11-beta-hydroxylase deficiency
    x-linked adrenal hypoplasia congenita    aldosteronism    apparent mineralocorticoid excess syndrome    twin-to-twin transfusion syndrome
    familial juvenile hyperuricemic nephropathy    familial juvenile hyperuricemic nephropathy type 2    von hippel-lindau disease    hyperuricemic nephropathy
    pure autonomic failure    twin twin transfusion syndrome    21-hydroxylase deficiency    spinal cord injury
    hyporeninemic hypoaldosteronism    renal tubular dysgenesis    chloride diarrhea    high blood pressure

    16 diseases from the University of Copenhagen DISEASES database for REN:
    Hypertension     Conn's syndrome     Kidney disease     Hyperaldosteronism
    Hypokalemia     Congestive heart failure     Adenoma     Cerebrovascular accident
    Liver cirrhosis     Diabetes mellitus     Myocardial infarction     Cushing's syndrome
    Metabolic acidosis     Portal hypertension     Addison's disease     Apparent mineralocorticoid excess syndrome

    10/97 Novoseek disease relationships for REN gene (see all 97)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    aldosteronism primary 90.8 139 12406976 (5), 9522976 (4), 8873937 (3), 10999820 (3) (see all 93)
    hyperaldosteronism 87.4 29 1644014 (3), 18260994 (2), 16172426 (1), 1471937 (1) (see all 26)
    essential hypertension 87 174 8076423 (3), 9488241 (3), 7910062 (3), 7606651 (3) (see all 99)
    renin hypertension 85.7 10 9091855 (1), 9039138 (1), 7662248 (1), 2194031 (1) (see all 10)
    hypertension renovascular 82.1 64 1962648 (4), 11022891 (3), 7731487 (2), 1763831 (2) (see all 45)
    low renin hypertension 80.2 9 11587161 (2), 7883826 (1), 17015767 (1), 11903321 (1) (see all 7)
    hypokalemia 79.7 55 12611241 (2), 8255271 (2), 8155305 (1), 7651282 (1) (see all 51)
    renal artery stenosis 78.4 48 9488241 (5), 11078179 (2), 2081013 (2), 16814133 (2) (see all 36)
    hypoaldosteronism 75.6 10 11423756 (2), 20154436 (2), 8324299 (1), 7808093 (1) (see all 6)
    glucocorticoid-remediable aldosteronism 75.4 1 8396580 (1)

    Genetic Association Database (GAD): REN
    Human Genome Epidemiology (HuGE) Navigator: REN (241 documents)

    Export disorders for REN gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for REN gene, integrated from 9 sources (see all 2319):
    (articles sorted by number of sources associating them with REN)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Dominant renin gene mutations associated with early-o nset hyperuricemia, anemia, and chronic kidney failure. (PubMed id 19664745)1, 2, 9 ZivnA! M....Kmoch S. (2009)
    2. Associations between hypertension and genes in the renin-angiotensin system. (PubMed id 12695419)1, 4, 9 Zhu X....Chakravarti A. (2003)
    3. Haplotypes of the human renin gene associated with essential hypertension and stroke. (PubMed id 11224002)1, 4, 9 Frossard P.M....Kane J.P. (2001)
    4. Relationship between the renin-angiotensin system genes and diabetic nephropathy in the Chinese. (PubMed id 11776100)1, 4, 9 Wu S....Li J. (2000)
    5. Mutations in genes in the renin-angiotensin system are associated with autosomal recessive renal tubular dysgenesis. (PubMed id 16116425)1, 2, 9 Gribouval O.... Gubler M.-C. (2005)
    6. Strong association of a renin intronic dimorphism with essential hypertension. (PubMed id 16138564)1, 4, 9 Ahmad U....Frossard P.M. (2005)
    7. Genetic determinants of nonmodulating hypertension. (PubMed id 14530292)1, 4, 9 Kosachunhanun N....Williams G.H. (2003)
    8. Angiotensin converting enzyme DD genotype is associated with hypertensive crisis. (PubMed id 12394950)1, 4, 9 Sunder-Plassmann G....Fodinger M. (2002)
    9. The DNA sequence and biological annotation of human chromosome 1. (PubMed id 16710414)1, 2 Gregory S.G.... Bentley D.R. (2006)
    10. Association study between the human Renin gene and preeclampsia. (PubMed id 16036389)1, 4 Maruyama A....Yamamoto T. (2005)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
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    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 5972 HGNC: 9958 AceView: REN Ensembl:ENSG00000143839 euGenes: HUgn5972
    ECgene: REN Kegg: 5972 H-InvDB: REN

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for REN Pharmacogenomics, SNPs, Pathways
    Wikipedia http://en.wikipedia.org/wiki/Renin

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for REN gene:
    Search GeneIP for patents involving REN

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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     Regulatory tfbs in REN promoter
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