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UMOD Gene

protein-coding   GIFtS: 63
GCID: GC16M020344

Uromodulin

(Previous names: uromodulin (uromucoid, Tamm-Horsfall glycoprotein))
  See UMOD-related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
uromodulin1 2     HNFJ12 5
uromucoid1 2     MCKD22 5
THP2 3     Tamm-Horsfall Glycoprotein1
Tamm-Horsfall Urinary Glycoprotein2 3     Uromodulin (Uromucoid, Tamm-Horsfall Glycoprotein)1
ADMCKD22 5     HNFJ2
FJHN2 5     THGP2

External Ids:    HGNC: 125591   Entrez Gene: 73692   Ensembl: ENSG000001693447   OMIM: 1918455   UniProtKB: P079113   

Export aliases for UMOD gene to outside databases

Previous GC identifers: GC16P019829 GC16M019774 GC16M020271 GC16M020310 GC16M020251 GC16M018883


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for UMOD Gene:
The protein encoded by this gene is the most abundant protein in mammalian urine under physiological conditions.
Its excretion in urine follows proteolytic cleavage of the ectodomain of its glycosyl
phosphatidylinosital-anchored counterpart that is situated on the luminal cell surface of the loop of Henle. This
protein may act as a constitutive inhibitor of calcium crystallization in renal fluids. Excretion of this protein
in urine may provide defense against urinary tract infections caused by uropathogenic bacteria. Defects in this
gene are associated with the renal disorders medullary cystic kidney disease-2 (MCKD2), glomerulocystic kidney
disease with hyperuricemia and isosthenuria (GCKDHI), and familial juvenile hyperuricemic nephropathy (FJHN).
Alternative splicing of this gene results in multiple transcript variants. (provided by RefSeq, Jul 2013)

GeneCards Summary for UMOD Gene:
UMOD (uromodulin) is a protein-coding gene. Diseases associated with UMOD include umod-associated kidney disease, and familial juvenile hyperuricaemic nephropathy. GO annotations related to this gene include calcium ion binding. An important paralog of this gene is GP2.

UniProtKB/Swiss-Prot: UROM_HUMAN, P07911
Function: Uromodulin: Functions in biogenesis and organization of the apical membrane of epithelial cells of the
thick ascending limb of Henle's loop (TALH), where it promotes formation of complex filamentous gel-like
structure providing the water barrier permeability. May serve as a receptor for binding and endocytosis for
cytokines (IL-1, IL-2) and TNF. Facilitates neutrophil migration across renal epithelial
Function: Uromodulin, secreted form: Secreted into urine after proteolytically cleaveage. Into the urine, may
contribute to colloid osmotic pressure, retards passage of positively charged electrolytes, prevents urinary
tract infection and modulates formation of supersaturated salts and their crystals

Gene Wiki entry for UMOD (Tamm-Horsfall protein) Gene


(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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000016.9  NT_187260.1  NC_018927.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the UMOD gene promoter:
         AhR   Nkx3-1   Nkx3-1 v4   Brachyury   XBP-1   Nkx3-1 v1   Nkx3-1 v2   HFH-1   Nkx3-1 v3   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidUMOD promoter sequence
   Search Chromatin IP Primers for UMOD

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat UMOD


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

Entrez Gene cytogenetic band: 16p12.3   Ensembl cytogenetic band:  16p12.3   HGNC cytogenetic band: 16p12.3

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

GeneLoc information about chromosome 16         GeneLoc Exon Structure

GeneLoc location for GC16M020344:  view genomic region     (about GC identifiers)

Start:
20,344,373 bp from pter      End:
20,367,623 bp from pter
Size:
23,251 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: UROM_HUMAN, P07911 (See protein sequence)
Recommended Name: Uromodulin precursor  
Size: 640 amino acids; 69761 Da
Miscellaneous: A specific, but as yet unidentified, protease(s) cleaves off and releases UMOD into urine
Secondary accessions: B3KP48 B3KRN9 Q540J6 Q6ZS84 Q8IYG0
Alternative splicing: 4 isoforms:  P07911-1   P07911-2   P07911-3   P07911-4   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for UMOD: NX_P07911

Explore proteomics data for UMOD at MOPED

Post-translational modifications: 

  • N-glycosylated. N-glycan heterogeneity at Asn-232: Hex7HexNAc6 (major) and dHex1Hex7HexNAc6 (minor); at Asn-322:
    dHex1Hex6HexNAc5 (minor), dHex1Hex7HexNAc6 (major) and dHex1Hex8HexNAc7 (minor); at Asn-396: Hex6HexNAc5 (major),
    dHex1Hex6HexNAc5 (minor) and Hex7HexNAc6 (minor)1
  • Proteolytically cleaved at a conserved C-terminal proteolytic cleavage site to generate the secreted form found
    into urine1
  • Glycosylation2 at Asn38, Asn76, Asn80, Asn232, Asn275, Asn322, Asn396

  • See UMOD Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (3 alternative transcripts): 
    NP_001008390.1  NP_001265543.1  NP_003352.2  

    ENSEMBL proteins: 
     ENSP00000379438   ENSP00000379442   ENSP00000460548   ENSP00000460374   ENSP00000458939  
     ENSP00000459738   ENSP00000460845   ENSP00000461641   ENSP00000459724   ENSP00000461120  
     ENSP00000458695   ENSP00000416346   ENSP00000306279   ENSP00000379446  

    UMOD Human Recombinant Protein Products:

    EMD Millipore Purified and/or Recombinant UMOD Protein
    Browse R&D Systems for human recombinant proteins
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    GenScript Custom Purified and Recombinant Proteins Services for UMOD
    Novus Biologicals UMOD Protein
    Novus Biologicals UMOD Lysates
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    ProSpec Recombinant Protein for UMOD
    Cloud-Clone Corp. Proteins for UMOD

     
    Search eBioscience for Proteins for UMOD 

    UMOD Antibody Products:

    EMD Millipore Mono- and Polyclonal Antibodies for the study of UMOD
    R&D Systems Antibodies for UMOD (Uromodulin)
    OriGene Antibodies for UMOD
    OriGene Custom Antibody Services for UMOD
    Novus Biologicals UMOD Antibodies
    Abcam antibodies for UMOD
    Cloud-Clone Corp. Antibodies for UMOD
    ThermoFisher Antibodies for UMOD
    LSBio Antibodies in human, mouse, rat for UMOD

    UMOD Assay Products:

    Browse Kits and Assays available from EMD Millipore
    OriGene Custom Assay Services for UMOD
    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for UMOD
    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for UMOD
    Cloud-Clone Corp. CLIAs for UMOD
    Search eBioscience for ELISAs for UMOD 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    Selected InterPro protein domains (see all 10):
     IPR017977 ZP_dom_CS
     IPR000742 EG-like_dom
     IPR000152 EGF-type_Asp/Asn_hydroxyl_site
     IPR018097 EGF_Ca-bd_CS
     IPR024731 EGF_dom_MSP1-like

    Graphical View of Domain Structure for InterPro Entry P07911

    ProtoNet protein and cluster: P07911

    3 Blocks protein domains:
    IPB000152 Aspartic acid and asparagine hydroxylation site
    IPB001507 Endoglin/CD105 antigen
    IPB001881 EGF-like calcium-binding


    UniProtKB/Swiss-Prot: UROM_HUMAN, P07911
    Domain: The ZP domain is involved in the polymerization of the protein to promote the formation of complex
    gel-like structure
    Similarity: Contains 3 EGF-like domains
    Similarity: Contains 1 ZP domain


    Find genes that share domains with UMOD           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: UROM_HUMAN, P07911
    Function: Uromodulin: Functions in biogenesis and organization of the apical membrane of epithelial cells of the
    thick ascending limb of Henle's loop (TALH), where it promotes formation of complex filamentous gel-like
    structure providing the water barrier permeability. May serve as a receptor for binding and endocytosis for
    cytokines (IL-1, IL-2) and TNF. Facilitates neutrophil migration across renal epithelial
    Function: Uromodulin, secreted form: Secreted into urine after proteolytically cleaveage. Into the urine, may
    contribute to colloid osmotic pressure, retards passage of positively charged electrolytes, prevents urinary
    tract infection and modulates formation of supersaturated salts and their crystals

         Genatlas biochemistry entry for UMOD:
    uromodulin,uromucoid,expressed in kidney,homolog to GP2

         Gene Ontology (GO): 2 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005509calcium ion binding IEA--
    GO:0005515protein binding ----
         
    Find genes that share ontologies with UMOD           About GenesLikeMe


    Phenotypes:
         2 GenomeRNAi human phenotypes for UMOD:
     Decreased viability with pacli  Increased gamma-H2AX phosphory 

         8 MGI mutant phenotypes (inferred from 3 alleles(MGI details for Umod):
     adipose tissue  growth/size/body  hematopoietic system  homeostasis/metabolism  immune system 
     other  renal/urinary system  skeleton 

    Find genes that share phenotypes with UMOD           About GenesLikeMe

    Animal Models:
         MGI mouse knock-outs for UMOD: Umodtm1Xrw Umodtm1Kuma

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for UMOD
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for UMOD

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for UMOD
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for UMOD

    miRNA
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    Block miRNA regulation of human, mouse, rat UMOD using miScript Target Protectors
    2 qRT-PCR Assays for microRNAs that regulate UMOD:
    hsa-miR-107 hsa-miR-103a
    SwitchGear 3'UTR luciferase reporter plasmidUMOD 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for UMOD
    Predesigned siRNA for gene silencing in human, mouse, rat UMOD

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for UMOD

    Clone
    Products:
         
    OriGene clones in human, mouse for UMOD (see all 11)
    OriGene ORF clones in mouse, rat for UMOD
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 2): UMOD (NM_001008389)
    Sino Biological Human cDNA Clone for UMOD
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for UMOD
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat UMOD

    Cell Line
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    GenScript Custom overexpressing Cell Line Services for UMOD
    Browse ESI BIO Cell Lines and PureStem Progenitors for UMOD 
    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for UMOD

    Flow Cytometry
    Products:
       

     
    eBioscience FlowRNA Probe Sets ( VA6-13567) for UMOD 


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    UROM_HUMAN, P07911: Apical cell membrane; Lipid-anchor, GPI-anchor. Basolateral cell membrane; Lipid-anchor,
    GPI-anchor. Cell projection, cilium membrane. Note=Only a small fraction is sort to the basolateral pole of
    tubular epithelial cells compared to apical localization. Secreted into urine after cleavage. Colocalized with
    NPHP1 and KIF3A
    UROM_HUMAN, P07911: Uromodulin, secreted form: Secreted
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytoskeleton5
    extracellular5
    plasma membrane5
    endoplasmic reticulum2
    golgi apparatus2
    cytosol1
    lysosome1
    nucleus1

    Gene Ontology (GO): Selected cellular component terms (see all 14):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000922spindle pole IDA--
    GO:0005576extracellular region ----
    GO:0005615extracellular space IEA--
    GO:0005794Golgi apparatus IEA--
    GO:0016323basolateral plasma membrane IDA7028707

    Find genes that share ontologies with UMOD           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, 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 Apr 2014 via Entrez Gene).
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    SuperPaths for UMOD About    
    See pathways by source

    SuperPathContained pathways About
    1Selected targets of HNF1
    Selected targets of HNF1




        Pathway & Disease-focused RT2 Profiler PCR Array including UMOD: 
              Terminal Differentiation Markers in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for UMOD

    STRING Interaction Network Preview (showing 3 interactants - click image to see more details)

    Selected Interacting proteins for UMOD (P079113 ENSP000003062794) via UniProtKB, MINT, STRING, and/or I2D (see all 6)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    LTAP013743, ENSP000004034954I2D: score=3 STRING: ENSP00000403495
    ENSG00000230279P013743I2D: score=3 
    ENSG00000231408P013743I2D: score=3 
    MMP8P228943, ENSP000002368264I2D: score=1 STRING: ENSP00000236826
    IL1BP015843I2D: score=1 
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 9):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006968cellular defense response TAS2409603
    GO:0007588excretion IEA--
    GO:0008285negative regulation of cell proliferation TAS2409603
    GO:0010033response to organic substance IEA--
    GO:0048878chemical homeostasis IEA--

    Find genes that share ontologies with UMOD           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for UMOD (UROM)

    Selected Novoseek inferred chemical compound relationships for UMOD gene (see all 29)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    thps 90.1 8 17345077 (4), 7783702 (3)
    tamm 85.4 8 12900848 (2), 12270772 (1), 17065110 (1), 7490460 (1) (see all 6)
    calcium oxalate 82 55 7783702 (4), 10096372 (4), 12424489 (3), 15855216 (3) (see all 23)
    uric acid 64.5 15 16861244 (4), 11007825 (1), 12629136 (1), 17629875 (1) (see all 10)
    sialic acid 60.7 25 9352687 (4), 10460894 (3), 15637470 (2), 7664879 (1) (see all 13)
    oxalate 50.4 3 15327412 (1), 11007825 (1), 17629875 (1)
    creatinine 42.2 15 1488322 (1), 10572998 (1), 17616355 (1), 9650124 (1) (see all 10)
    citrate 38.4 20 7771027 (4), 10096372 (3), 8285211 (2), 17629875 (2) (see all 9)
    monosaccharide 37.8 3 10815984 (1), 10424459 (1)
    slex 36.7 3 10770931 (3)



    Find genes that share compounds with UMOD           About GenesLikeMe



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 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,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for UMOD gene (3 alternative transcripts): 
    NM_001008389.2  NM_001278614.1  NM_003361.3  

    Unigene Cluster for UMOD:

    Uromodulin
    Hs.654425  [show with all ESTs]
    Unigene Representative Sequence: AK091961
    15 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000396134(uc002dhb.3) ENST00000396138(uc002dgz.3) ENST00000570689
    ENST00000570331 ENST00000573567 ENST00000571174 ENST00000577168 ENST00000574195
    ENST00000576688 ENST00000570757 ENST00000576546 ENST00000570972 ENST00000424589
    ENST00000302509(uc002dha.3) ENST00000396142
    miRNA
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    2 qRT-PCR Assays for microRNAs that regulate UMOD:
    hsa-miR-107 hsa-miR-103a
    SwitchGear 3'UTR luciferase reporter plasmidUMOD 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat UMOD
    Clone
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    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 2): UMOD (NM_001008389)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for UMOD
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat UMOD
    Primer
    Products:
        
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    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat UMOD
      QuantiTect SYBR Green Assays in human, mouse, rat UMOD
      QuantiFast Probe-based Assays in human, mouse, rat UMOD
    Flow Cytometry
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    eBioscience FlowRNA Probe Sets ( VA6-13567) for UMOD 

    Additional mRNA sequence: 

    AK055722.1 AK091961.1 AK096043.1 AK127643.1 AK127648.1 BC035975.1 M15881.1 M17778.1 

    Selected DOTS entries (see all 37):

    DT.120685796  DT.120685823  DT.95264795  DT.100020311  DT.107035  DT.120685818  DT.120685769  DT.120685856 
    DT.120685831  DT.120685825  DT.102827271  DT.120685783  DT.120685802  DT.101981138  DT.120685846  DT.100020313 
    DT.100754194  DT.120685844  DT.120685826  DT.70100028  DT.120685837  DT.120685810  DT.120685835  DT.120685843 

    Selected AceView cDNA sequences (see all 103):

    M15881 BG430266 AI733047 BG428950 AI934416 AI700894 BX089145 AI768450 
    AI284347 BE466514 BE463493 BX109279 BE501786 AK096043 AI791538 AI791536 
    AW051962 AI640530 BG401615 AI625807 BG400435 AK091961 AI928388 AI566001 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for UMOD (see all 13)    About this scheme

    ExUns: 1a · 1b · 1c · 1d ^ 2a · 2b · 2c ^ 3a · 3b · 3c ^ 4a · 4b · 4c ^ 5a · 5b ^ 6a · 6b · 6c · 6d · 6e · 6f · 6g ^ 7 ^ 8 ^ 9 ^ 10 ^
    SP1:                                                                          -                                                                                 
    SP2:                                                              -     -     -                 -     -     -     -     -     -     -                           
    SP3:                                                              -     -     -                                                                                 
    SP4:                                                                                                                                                            
    SP5:                                            -                                                                                                               

    ExUns: 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16
    SP1:  -                                 
    SP2:  -                                 
    SP3:  -                                 
    SP4:                                    
    SP5:                                    


    ECgene alternative splicing isoforms for UMOD

    (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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    UMOD expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CTTTGTTCAG
    UMOD Expression
    About this image


    UMOD expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 3) fully expand
     
     Kidney (Urinary System)    fully expand to see all 16 entries
             Loop of Henle Cells Loop of Henle
             Metanephros
             Parietal epithelial cells (PEC)
             Renal-like cells
             kidney ; cells in tubules   
             visceral organ/metanephros/renal cortex   
     
     Epithelial Cells
             Loop of Henle Cells Loop of Henle
     
     Skeletal Muscle (Muscoskeletal System)    fully expand to see all 2 entries
             Muscle Progenitor Cells Mandibular Arch Muscles
    UMOD Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    UMOD Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.654425

    UniProtKB/Swiss-Prot: UROM_HUMAN, P07911
    Tissue specificity: Synthesized exclusively in the kidney. Expressed exclusively by epithelial cells of the thick
    ascending limb of Henle's loop (TALH) and of distal convoluted tubule lumen. Most abundant protein in normal
    urine

        Pathway & Disease-focused RT2 Profiler PCR Array including UMOD: 
              Terminal Differentiation Markers in human mouse rat

    Primer
    Products:
    OriGene qSTAR qPCR primer pairs in human, mouse for UMOD
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat UMOD
    QuantiTect SYBR Green Assays in human, mouse, rat UMOD
    QuantiFast Probe-based Assays in human, mouse, rat UMOD
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for UMOD

    (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)
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    This gene was present in the common ancestor of chordates.

    Orthologs for UMOD gene from Selected species (see all 12)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Umod1 , 5 uromodulin1, 5 79.52(n)1
    77.96(a)1
      7 (63.88 cM)5
    222421  NM_001278605.11  NP_001265534.11 
     1194628665 
    chicken
    (Gallus gallus)
    Aves ZPD6
    Gallus gallus zona pellucida protein D (ZPD), mRNA...
    24(a)
    1 → many
    11(520634-524598)
    lizard
    (Anolis carolinensis)
    Reptilia --
    Uncharacterized protein
    52(a)
    1 → many
    GL343621.1(77126-92542)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia LOC1017317331 uromodulin-like 54.3(n)
    52.73(a)
      101731733  XM_004918289.1  XP_004918346.1 
    zebrafish
    (Danio rerio)
    Actinopterygii si:ch73-181m17.16
    CABZ01048956.16
    (see all 22)
    --
    8(a)
    8(a)
    (see all 22)
    many ↔ many
    many ↔ many
    (see all 22)
    12(40527745-40575215) ENSDARG00000097080
    12(46994362-47010486) ENSDARG00000089465


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for UMOD gene
    GP22  OIT32  
    13 SIMAP similar genes for UMOD using alignment to 11 protein entries:     UROM_HUMAN (see all proteins):
    GP2    DKFZp779K0533    UMODL1    FBN3    NELL2    SNED1
    LTBP1    FBLN2    PROS1    NOTCH2    MEGF6    CD97
    LTBP3

    Find genes that share paralogs with UMOD           About GenesLikeMe



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, 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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for UMOD (see all 646)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 16 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs289345831,2,,4
    CFamilial juvenile hyperuricemic nephropathy 1 (HNFJ1)4 pathogenic120363175(-) AGACCC/TGCGTG 4 R C mis1 ese30--------
    rs289345821,2,,4
    CFamilial juvenile hyperuricemic nephropathy 1 (HNFJ1)4 pathogenic120363381(-) GCACTA/GTGAGT 4 Y C mis10--------
    rs289345841,2,,4
    CMedullary cystic kidney disease 2 (MCKD2)4 pathogenic120363517(-) CGCCCG/TGTCTC 4 G C mis1 ese30--------
    VAR_0259584
    Medullary cystic kidney disease 2 (MCKD2)4--see VAR_0259582 C W mis40--------
    VAR_0259594
    Familial juvenile hyperuricemic nephropathy 1 (HNFJ1)4--see VAR_0259592 C Y mis40--------
    VAR_0259524
    Familial juvenile hyperuricemic nephropathy 1 (HNFJ1)4--see VAR_0259522 C R mis40--------
    VAR_0259574
    Medullary cystic kidney disease 2 (MCKD2)4--see VAR_0259572 T K mis40--------
    VAR_0259604
    Familial juvenile hyperuricemic nephropathy 1 (HNFJ1)4--see VAR_0259602 C G mis40--------
    VAR_0259564
    Familial juvenile hyperuricemic nephropathy 1 (HNFJ1)4--see VAR_0259562 C Y mis40--------
    VAR_0259504
    Familial juvenile hyperuricemic nephropathy 1 (HNFJ1)4--see VAR_0259502 C Y mis40--------

    HapMap Linkage Disequilibrium report for UMOD (20344373 - 20367623 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 2 variations for UMOD:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv1759CNV Insertion18451855
    nsv436835CNV Insertion17901297

    Human Gene Mutation Database (HGMD): UMOD
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing UMOD
    DNA2.0 Custom Variant and Variant Library Synthesis for UMOD

    (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

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    OMIM gene information: 191845   
    OMIM disorders: 162000  603860  609886  
    UniProtKB/Swiss-Prot: UROM_HUMAN, P07911
  • Familial juvenile hyperuricemic nephropathy 1 (HNFJ1) [MIM:162000]: A renal disease characterized by
    juvenile onset of hyperuricemia, polyuria, progressive renal failure, and gout. The disease is associated with
    interstitial pathological changes resulting in fibrosis. Note=The disease is caused by mutations affecting the
    gene represented in this entry
  • Medullary cystic kidney disease 2 (MCKD2) [MIM:603860]: A form of tubulointerstitial nephropathy
    characterized by formation of renal cysts at the corticomedullary junction. It is characterized by adult onset of
    impaired renal function and salt wasting resulting in end-stage renal failure by the sixth decade. Note=The
    disease is caused by mutations affecting the gene represented in this entry
  • Glomerulocystic kidney disease with hyperuricemia and isosthenuria (GCKDHI) [MIM:609886]: A renal
    disorder characterized by a cystic dilation of Bowman space, a collapse of glomerular tuft, and hyperuricemia due
    to low fractional excretion of uric acid and severe impairment of urine concentrating ability. Note=The disease
    is caused by mutations affecting the gene represented in this entry

  • 17 diseases for UMOD:    
    About MalaCards
    umod-associated kidney disease    familial juvenile hyperuricaemic nephropathy    familial juvenile hyperuricemic nephropathy    glomerulocystic kidney disease with hyperuricemia and isosthenuria
    bacteriuria    cystic kidney    hyperuricemia    chronic pyelonephritis
    pyelonephritis    familial juvenile hyperuricemic nephropathy type 2    urinary tract obstruction    kidney disease
    medullary cystic kidney disease type 1    cystitis    gout    vesicoureteral reflux
    cataract 23

    3 diseases from the University of Copenhagen DISEASES database for UMOD:
    Hyperuricemia     Gout     Kidney disease

    Find genes that share disorders with UMOD           About GenesLikeMe

    Selected Novoseek inferred disease relationships for UMOD gene (see all 45)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    hyperuricemic nephropathy, familial juvenile 97.6 35 15983957 (2), 18409514 (1), 12900848 (1), 19203555 (1) (see all 20)
    medullary cystic kidney 95.7 25 15983957 (2), 11730273 (2), 12900848 (1), 12839032 (1) (see all 13)
    cystic kidney disease 87.4 23 15983957 (2), 11730273 (2), 20172860 (2), 12900848 (1) (see all 11)
    hyperuricaemic nephropathy 85.5 8 15589826 (2), 19465746 (2), 15575003 (1), 18651238 (1)
    hyperuricemia 84.7 16 20151160 (2), 18409531 (2), 16861244 (1), 17065110 (1) (see all 11)
    gout 76.2 6 20151160 (1), 17065110 (1), 19203555 (1), 16582687 (1)
    renal stone 71.3 19 11007825 (2), 19145410 (2), 9352687 (1), 2008908 (1) (see all 12)
    renal disease 66.6 58 8558842 (3), 20075439 (2), 11953407 (2), 15983957 (2) (see all 30)
    tubulointerstitial nephritis 57.7 1 14520616 (1)
    nephritis interstitial 57 3 10645146 (1), 10436264 (1), 15266028 (1)

    GeneTests: UMOD
    GeneReviews: UMOD
    Genetic Association Database (GAD): UMOD
    Human Genome Epidemiology (HuGE) Navigator: UMOD (12 documents)

    Export disorders for UMOD 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)
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    PubMed articles for UMOD gene, integrated from 10 sources (see all 270) (see top 10):
    (articles sorted by number of sources associating them with UMOD)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Uromodulin is expressed in renal primary cilia and UMOD mutations result in decreased ciliary uromodulin expression. (PubMed id 20172860)1, 2, 9 Zaucke F.... Wolf M.T. (Hum. Mol. Genet. 2010)
    2. Mutations of the Uromodulin gene in MCKD type 2 patients cluster in exon 4, which encodes three EGF-like domains. (PubMed id 14531790)1, 2, 9 Wolf M.T.F.... Hildebrandt F. (Kidney Int. 2003)
    3. Uromodulin levels associate with a common UMOD variant and risk for incident CKD. (PubMed id 19959715)1, 4, 9 KAPttgen A....Fox C.S. (J. Am. Soc. Nephrol. 2010)
    4. Uromodulin (Tamm-Horsfall glycoprotein/uromucoid) is a phosphatidylinositol-linked membrane protein. (PubMed id 2249987)1, 2, 9 Rindler M.J.... Peraldi M.-N. (J. Biol. Chem. 1990)
    5. Mutation analysis of the Uromodulin gene in 96 individuals with urinary tract anomalies (CAKUT). (PubMed id 18846391)1, 4, 9 Wolf M.T....Hildebrandt F. (Pediatr. Nephrol. 2009)
    6. Allelism of MCKD, FJHN and GCKD caused by impairment of uromodulin export dynamics. (PubMed id 14570709)1, 2, 9 Rampoldi L.... Casari G. (Hum. Mol. Genet. 2003)
    7. Renal manifestations of a mutation in the uromodulin (Tamm Horsfall protein) gene. (PubMed id 12900848)1, 2, 9 Bleyer A.J.... Hart T.C. (Am. J. Kidney Dis. 2003)
    8. UROMODULIN mutations cause familial juvenile hyperuricemic nephropathy. (PubMed id 12629136)1, 2, 9 Turner J.J.O.... Thakker R.V. (J. Clin. Endocrinol. Metab. 2003)
    9. Prothrombin haplotype associated with kidney stone disease in Northeastern Thai patients. (PubMed id 21067798)1, 4 Rungroj N....Yenchitsomanus P.T. (Urology 2011)
    10. Bivariate genome-wide association analyses of femoral neck bone geometry and appendicular lean mass. (PubMed id 22087292)1, 4 Sun L....Deng H.W. (PLoS ONE 2011)
    11. New loci associated with kidney function and chronic kidney disease. (PubMed id 20383146)1, 4 KAPttgen A....Fox C.S. (Nat. Genet. 2010)
    12. Association of variants at UMOD with chronic kidney disease and kidney stones-role of age and comorbid diseases. (PubMed id 20686651)1, 4 Gudbjartsson D.F....Stefansson K. (PLoS Genet. 2010)
    13. Tamm-Horsfall protein gene is associated with distal tubular dysfunction in patients with type 1 diabetes. (PubMed id 20624112)1, 4 MAPllsten A. and Torffvit O. (Scand. J. Urol. Nephrol. 2010)
    14. Genome-wide association study of blood pressure extremes identifies variant near UMOD associated with hypertension. (PubMed id 21082022)1, 4 Padmanabhan S....Dominiczak A.F. (PLoS Genet. 2010)
    15. Multiple loci associated with indices of renal function and chronic kidney disease. (PubMed id 19430482)1, 4 KAPttgen A....Fox C.S. (Nat. Genet. 2009)
    16. Urinary uromodulin carries an intact ZP domain generated by a conserved C-terminal proteolytic cleavage. (PubMed id 18375198)1, 2 Santambrogio S.... Rampoldi L. (Biochem. Biophys. Res. Commun. 2008)
    17. Extensive genetic analysis of 10 candidate genes for hypertension in Japanese. (PubMed id 16982955)1, 4 Iwai N....Tomoike H. (Hypertension 2006)
    18. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    19. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    20. Mutations of the UMOD gene are responsible for medullary cystic kidney disease 2 and familial juvenile hyperuricaemic nephropathy. (PubMed id 12471200)1, 2 Hart T.C.... Bleyer A.J. (J. Med. Genet. 2002)
    21. Chromosomal assignment of the uromodulin gene (UMOD) to 16p13.11. (PubMed id 8382593)1, 3 Jeanpierre C....Junien C. (Cytogenet. Cell Genet. 1993)
    22. Identification of human uromodulin as the Tamm-Horsfall urinary glycoprotein. (PubMed id 3453112)1, 2 Pennica D.... Goeddel D.V. (Science 1987)
    23. Uromodulin (Tamm-Horsfall glycoprotein): a renal ligand for lymphokines. (PubMed id 3498215)1, 2 Hession C.... Muchmore A.V. (Science 1987)
    24. Localization of Tamm-Horsfall glycoprotein in the human kidney using immuno-fluorescence and immuno-electron microscopical techniques. (PubMed id 7028707)1, 2 Sikri K.L.... Marshall R.D. (J. Anat. 1981)
    25. Mutations in the uromodulin gene decrease urinary excretion of Tamm-Horsfall protein. (PubMed id 15327389)1, 9 Bleyer A.J....Hoyer J.R. (Kidney Int. 2004)
    26. A cluster of mutations in the UMOD gene causes familial juvenile hyperuricemic nephropathy with abnormal expression of uromodulin. (PubMed id 14569098)1, 9 Dahan K....Pirson Y. (J. Am. Soc. Nephrol. 2003)
    27. Uromodulin mutations causing familial juvenile hyperuricaemic nephropathy lead to protein maturation defects and retention in the endoplasmic reticulum. (PubMed id 19465746)1, 9 Williams S.E....Thakker R.V. (Hum. Mol. Genet. 2009)
    28. Evidence for a role of uromodulin in chronic kidney disease progression. (PubMed id 20075439)1, 9 Prajczer S....Jennings P. (Nephrol. Dial. Transplant. 2010)
    29. Abnormal expression and processing of uromodulin in Fabry disease reflects tubular cell storage alteration and is reversible by enzyme replacement therapy. (PubMed id 18651238)1, 9 Vylet'al P....Kmoch S. (J. Inherit. Metab. Dis. 2008)
    30. A novel pattern of mutation in uromodulin disorders: autosomal dominant medullary cystic kidney disease type 2, familial juvenile hyperuricemic nephropathy, and autosomal dominant glomerulocystic kidney disease. (PubMed id 15983957)1, 9 Lens X.M....Barrio-LucA-a V. (Am. J. Kidney Dis. 2005)
    31. Defective intracellular trafficking of uromodulin mutant isoforms. (PubMed id 17010121)1, 9 Bernascone I....Rampoldi L. (Traffic 2006)
    32. Immature renal structures associated with a novel UMOD sequence variant. (PubMed id 18950917)1, 9 Benetti E....Murer L. (Am. J. Kidney Dis. 2009)
    33. Membrane targeting and secretion of mutant uromodulin in familial juvenile hyperuricemic nephropathy. (PubMed id 17151335)1, 9 Jennings P....Pfaller W. (J. Am. Soc. Nephrol. 2007)
    34. Functional consequences of a novel uromodulin mutation in a family with familial juvenile hyperuricaemic nephropathy. (PubMed id 15575003)1, 9 Tinschert S....Rampoldi L. (Nephrol. Dial. Transplant. 2004)
    35. Effects of Tamm-Horsfall protein on polymorphonuclear leukocyte function. (PubMed id 15266028)1, 9 Wimmer T....HAPrl W.H. (Nephrol. Dial. Transplant. 2004)
    36. Molecular analysis of uromodulin and SAH genes, positional candidates for autosomal dominant medullary cystic kidney disease linked to 16p12. (PubMed id 11730273)1, 9 Pirulli D....Casari G. (J. Nephrol. 2001)
    37. Mapping of a new candidate locus for uromodulin-associated kidney disease (UAKD) to chromosome 1q41. (PubMed id 16164624)1, 9 HodanovA! K....Kmoch S. (Kidney Int. 2005)
    38. Familial juvenile hyperuricemic nephropathy: detection of mutations in the uromodulin gene in five Japanese families. (PubMed id 15086896)1, 9 Kudo E....Itakura M. (Kidney Int. 2004)
    39. Interaction of human Tamm-Horsfall glycoprotein with Bordetella pertussis toxin. (PubMed id 11932463)1, 9 Menozzi F.D....Raze D. (Microbiology (Reading, Engl.) 2002)
    40. Familial juvenile hyperuricemic nephropathy: report on a new mutation and a pregnancy. (PubMed id 19203555)1, 9 Lhotta K....Strazdins V. (Clin. Nephrol. 2009)
    41. [Uromodulin mutation and hyperuricemia]. (PubMed id 18409531)1, 9 Kudo E. and Itakura M. (Nippon Rinsho 2008)
    42. Intact protein core structure is essential for protein-binding, mononuclear cell proliferating, and neutrophil phagocytosis-enhancing activities of normal human urinary Tamm-Horsfall glycoprotein. (PubMed id 18068104)1, 9 Wu T.H....Yu C.L. (Int. Immunopharmacol. 2008)
    43. Familial nephropathy associated with hyperuricemia in Spain: our experience with 3 families harbouring a UMOD mutation. (PubMed id 17065110)1, 9 Puig J.G....Torres R.J. (amp 2006)
    44. Homozygosity for uromodulin disorders: FJHN and MCKD-type 2. (PubMed id 15253706)1, 9 Rezende-Lima W....Lens X.M. (Kidney Int. 2004)
    45. Identification and characterization of D8C, a novel domain present in liver-specific LZP, uromodulin and glycoprotein 2, mutated in familial juvenile hyperuricaemic nephropathy. (PubMed id 15589826)1, 9 Yang H....Guo J. (FEBS Lett. 2004)
    46. Variation of high mannose chains of Tamm-Horsfall glycoprotein confers differential binding to type 1-fimbriated Escherichia coli. (PubMed id 14570881)1, 9 Cavallone D....Serafini-Cessi F. (J. Biol. Chem. 2004)
    47. Childhood course of renal insufficiency in a family with a uromodulin gene mutation. (PubMed id 20151160)1, 9 SchAoffer P....Bleyer A.J. (Pediatr. Nephrol. 2010)
    48. [Familial juvenile hyperuricemic nephropathy (FJHN)]. (PubMed id 18409515)1, 9 Kudo E. and Itakura M. (Nippon Rinsho 2008)
    49. Tubular function in diabetic children assessed by Tamm-Horsfall protein and glutathione S-transferase. (PubMed id 18351395)1, 9 Holmquist P. and Torffvit O. (Pediatr. Nephrol. 2008)
    50. Altered glycosylation of Tamm-Horsfall glycoprotein derived from renal allograft recipients leads to changes in its biological function. (PubMed id 18047931)1, 9 Wu T.H....Tsai C.Y. (Transpl. Immunol. 2008)
    51. Production and characterization of transgenic mice harboring mutant human UMOD gene. (PubMed id 18600511)1, 9 Takiue Y....Shibasaki T. (amp 2008)
    52. The Uromodulin C744G mutation causes MCKD2 and FJHN in children and adults and may be due to a possible founder effect. (PubMed id 17245395)1, 9 Wolf M.T....Hildebrandt F. (Kidney Int. 2007)
    53. N-linked sugar chain structure of recombinant human lymphotoxin produced by CHO cells: the functional role of carbohydrate as to its lectin-like character and clearance velocity. (PubMed id 8323280)1, 9 Fukushima K....Yamashita K. (Arch. Biochem. Biophys. 1993)
    54. Tamm-Horsfall protein-associated nucleotides in patients with interstitial cystitis. (PubMed id 23421394)1 Argade S....Parsons C.L. (BJU Int. 2013)
    55. Association between genotype and phenotype in uromodulin-associated kidney disease. (PubMed id 23723338)1 Moskowitz J.L....Kotanko P. (Clin J Am Soc Nephrol 2013)
    56. Novel UMOD mutations in familial juvenile hyperuricemic nephropathy lead to abnormal uromodulin intracellular trafficking. (PubMed id 23988501)1 Liu M....Zhao M. (Gene 2013)
    57. Common genetic variants of the human uromodulin gene regulate transcription and predict plasma uric acid levels. (PubMed id 23344472)1 Han J....Wang H. (Kidney Int. 2013)
    58. Common noncoding UMOD gene variants induce salt-sensitive hypertension and kidney damage by increasing uromodulin expression. (PubMed id 24185693)1 Trudu M....Rampoldi L. (Nat. Med. 2013)
    59. Poor histological lesions in IgA nephropathy may be reflected in blood and urine peptide profiling. (PubMed id 23577616)1 Graterol F....Romero R. (BMC Nephrol 2013)
    60. Common variants of the UMOD promoter associated with blood pressure in a community-based Chinese cohort. (PubMed id 22592667)1 Han J....Wang H. (Hypertens. Res. 2012)
    61. Tamm-Horsfall protein facilitates catheter associated urinary tract infection. (PubMed id 23009031)1 Raffi H.S....Kumar S. (BMC Res Notes 2012)
    62. Molecular and cellular effects of Tamm-Horsfall protein mutations and their rescue by chemical chaperones. (PubMed id 22117067)1 Ma L....Wu X.R. (J. Biol. Chem. 2012)
    63. A Japanese Family Suffering from Familial Juvenile Hyperuricemic Nephropathy due to a Rare Mutation of the Uromodulin Gene. (PubMed id 23197950)1 Nakayama M....Taniguchi A. (Case Rep Nephrol Urol 2012)
    64. Association of estimated glomerular filtration rate and urinary uromodulin concentrations with rare variants identified by UMOD gene region sequencing. (PubMed id 22693617)1 KAPttgen A....Fox C.S. (PLoS ONE 2012)
    65. Urinary secretion and extracellular aggregation of mutant uromodulin isoforms. (PubMed id 22237754)1 Schaeffer C....Rampoldi L. (Kidney Int. 2012)
    66. [Mutant uromodulin is secreted in the urine of patients with familial hyperuricemic nephropathy and induces the formation of extracellular aggregates]. (PubMed id 22538938)1 Schaeffer C....Rampoldi L. (G Ital Nefrol 2012)
    67. UMOD as a susceptibility gene for end-stage renal disease. (PubMed id 22947327)1 Reznichenko A....Navis G. (BMC Med. Genet. 2012)
    68. The binding affinity and molecular basis of the structure-binding relationship between urinary Tamm-Horsfall glycoprotein and tumor necrosis factor-I+. (PubMed id 23060289)1 Wu C.H....Yu C.L. (Molecules 2012)
    69. Novel uromodulin mutation in familial juvenile hyperuricemic nephropathy. (PubMed id 22776760)1 Wei X....Chen W. (Am. J. Nephrol. 2012)
    70. Uromodulin triggers IL-1I^-dependent innate immunity via the NLRP3 inflammasome. (PubMed id 22997256)1 Darisipudi M.N....Anders H.J. (J. Am. Soc. Nephrol. 2012)
    71. Meta-analysis identifies multiple loci associated with kidney function-related traits in east Asian populations. (PubMed id 22797727)1 Okada Y....Tanaka T. (Nat. Genet. 2012)
    72. Detection of mutant uromodulin in transgenic mouse harboring a mutant human UMOD gene. (PubMed id 22132988)1 Yasuda M....Hosoyamada M. (amp 2011)
    73. Uromodulin gene variant is associated with type 2 diabetic nephropathy. (PubMed id 21738052)1 Ahluwalia T.S....Melander O. (J. Hypertens. 2011)
    74. Urinary UMOD excretion and chronic kidney disease in gout patients: cross-sectional case-control study. (PubMed id 21332338)1 Wu C.H....Chen C.J. (Ren Fail 2011)
    75. Tamm-Horsfall glycoprotein interacts with renal outer medullary potassium channel ROMK2 and regulates its function. (PubMed id 21081491)1 Renigunta A....Waldegger S. (J. Biol. Chem. 2011)
    76. Scraping fibrosis: UMODulating renal fibrosis. (PubMed id 21546974)1 Eddy A.A. (Nat. Med. 2011)
    77. Phenotype and outcome in hereditary tubulointerstitial nephritis secondary to UMOD mutations. (PubMed id 21868615)1 BollAce G....Knebelmann B. (Clin J Am Soc Nephrol 2011)
    78. Enhancement of androgen action in the kidneys of transgenic mice harboring the mutant human UMOD gene. (PubMed id 21358122)1 Takiue Y....Saito H. (J. Pharmacol. Sci. 2011)
    79. Characterization of a recurrent in-frame UMOD indel mutation causing late-onset autosomal dominant end-stage renal failure. (PubMed id 22034507)1 Smith G.D....Karet Frankl F.E. (Clin J Am Soc Nephrol 2011)
    80. Human urinary glycoproteomics; attachment site specific analysis of N-and O-linked glycosylations by CID and ECD. (PubMed id 22171320)2 Halim A.... Larson G. (Mol. Cell. Proteomics 2011)
    81. Uromodulin facilitates neutrophil migration across renal epithelial monolayers. (PubMed id 20798515)2 Schmid M.... Joannidis M. (Cell. Physiol. Biochem. 2010)
    82. Uromodulin biology and pathophysiology--an update. (PubMed id 21109754)1 Vyletal P....Kmoch S. (amp 2010)
    83. Uromodulin and chronic kidney disease. (PubMed id 20948228)1 Lhotta K. (amp 2010)
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    219. Analysis of urinary calculi obtained from a patient with idiopathic hypouricemia using micro area x-ray diffractometry and LC-MS. (PubMed id 16133578)9 Kaneko K....Fujimori S. (Urol. Res. 2005)
    220. Uric acid and the kidney: urate transport, stone disease and progressive renal failure. (PubMed id 16375737)9 Capasso G....Unwin R.J. (Curr. Pharm. Des. 2005)
    221. Urinary excretion rate of Tamm-Horsfall protein is related to salt intake in humans. (PubMed id 15153749)9 Torffvit O....HultAcn U.L. (Nephron Physiol 2004)
    222. Molecular analysis of uromodulin and SAH genes, positional candidates for autosomal dominant medullary cystic kidney disease linked to 16p12. (PubMed id 12839032)9 Casari G. and Amoroso A. (J. Nephrol. 2003)
    223. Clinical characterization of a family with a mutation in the uromodulin (Tamm-Horsfall glycoprotein) gene. (PubMed id 12787393)9 Bleyer A.J....Hart T.C. (Kidney Int. 2003)
    224. Analysis of an expanded width of albumin fraction by cellulose acetate membrane electrophoresis in IgA nephropathy urine before treatment. (PubMed id 12640625)9 Machii R....Shiba K. (J. Clin. Lab. Anal. 2003)
    225. Salt-precipitation method does not isolate to homogeneity Tamm-Horsfall glycoprotein from urine of proteinuric patients and pregnant women. (PubMed id 12270772)9 Cavallone D....Serafini-Cessi F. (Clin. Biochem. 2002)
    226. The use of the uromodulin promoter to target production of recombinant proteins into urine of transgenic animals. (PubMed id 12212844)9 Zbikowska H.M....Soukharev S. (Transgenic Res. 2002)
    227. Tamm-Horsfall protein excretion to predict the onset of renal insufficiency. (PubMed id 11937080)9 Romero M.C....Nesse A. (Clin. Biochem. 2002)
    228. Low-grade tubular-mucinous renal neoplasms: morphologic, immunohistochemical, and genetic features. (PubMed id 12429795)9 Rakozy C....StAPrkel S. (Mod. Pathol. 2002)
    229. The relation of urinary Tamm-Horsfall-protein on CaOx-crystallization under the scope of the Bonn-Risk-Index. (PubMed id 11310215)9 Laube N....Hesse A. (Urol. Res. 2001)
    230. Exclusion mapping of major crystallization inhibitors in idiopathic calcium urolithiasis. (PubMed id 11547117)9 Cailhier J.F....Bonnardeaux A. (J. Urol. 2001)
    231. Effects of Tamm-Horsfall protein and albumin on the inhibition of free radicals. (PubMed id 11741133)9 Chen W.C....Li C.W. (Urol. Int. 2001)
    232. Cyto-injury factors in urine: a possible mechanism for the development of interstitial cystitis. (PubMed id 10992419)9 Parsons C.L....Zupkas P. (J. Urol. 2000)
    233. Changes in urine macromolecular composition during processing. (PubMed id 10840465)9 Maslamani S....Khan S.R. (J. Urol. 2000)
    234. [Structure and function of Tamm-Horsfall protein in human physiologic and pathologic states]. (PubMed id 10645146)9 Olczak T. (Postepy Hig Med Dosw 1999)
    235. Urinary sulphated glycosaminoglycans and Tamm-Horsfall protein in type 1 diabetic patients. (PubMed id 10572998)9 Torffvit O. (Scand. J. Urol. Nephrol. 1999)
    236. Alterations of the sugar moiety of Tamm-Horsfall protein in children with malignancies of lymphoid cells. (PubMed id 10424459)9 Olczak T....Kubicz A. (Electrophoresis 1999)
    237. Changes in the surface conditioning of calcium-salt crystals treated with physiological and alkaline urine. (PubMed id 9698669)9 Santin M....Cannas M. (Br J Urol 1998)
    238. Identification of proteins extracted from calcium oxalate and calcium phosphate crystals induced in the urine of healthy and stone forming subjects. (PubMed id 9694603)9 Atmani F....Khan S.R. (Urol. Res. 1998)
    239. Urinary excretion of Tamm-Horsfall protein and epidermal growth factor in chronic nephropathy. (PubMed id 9647496)9 Torffvit O....Strandgaard S. (Nephron 1998)
    240. The nonselective adenosine antagonist theophylline does prevent renal dysfunction induced by radiographic contrast agents. (PubMed id 9650124)9 Kolonko A....Kokot F. (J. Nephrol. 1998)
    241. [Does a relationship exist between urinary excretion of Tamm-Horsfall protein and electrolytes in patients with diabetes type I and II without diabetic nephropathy?]. (PubMed id 9508663)9 Waszczuk J....Bar A. (Pol. Arch. Med. Wewn. 1997)
    242. Effect of insulin on systemic and renal handling of albumin in nondiabetic and NIDDM subjects. (PubMed id 9133557)9 Catalano C....Ferrannini E. (Diabetes 1997)
    243. Alterations of Tamm-Horsfall protein immunoreactivity after partial desialylation and deglycosylation. (PubMed id 9017164)9 Grabska T....DuA8awa J. (Arch. Immunol. Ther. Exp. (Warsz.) 1996)
    244. [The significance of dynamic change of plasma endothelin level in epidemic hemorrhagic fever]. (PubMed id 8582188)9 Yang B....Liu C. (Zhonghua Nei Ke Za Zhi 1995)
    245. Abnormal function of renal tubules in patients with simple renal cysts. (PubMed id 8725031)9 Franek E....Myrta J. (Int Urol Nephrol 1995)
    246. Adhesion of calcium oxalate monohydrate crystals to renal epithelial cells is inhibited by specific anions. (PubMed id 7733317)9 Lieske J.C....Toback F.G. (Am. J. Physiol. 1995)
    247. Native and/or asialo-Tamm-Horsfall glycoproteins Sd(a+) are important receptors for Triticum vulgaris (wheat germ) agglutinin and for three toxic lectins (abrin-a, ricin and mistletoe toxic lectin-I). (PubMed id 7664879)9 Wu A.M....Lin J.Y. (FEBS Lett. 1995)
    248. Analysis of the soluble organic matrix of five morphologically different kidney stones. Evidence for a specific role of albumin in the constitution of the stone protein matrix. (PubMed id 7618235)9 Dussol B....Verdier J.M. (Urol. Res. 1995)
    249. Purification of a 92 kDa human immunostimulating glycoprotein obtained from the Tamm-Horsfall glycoprotein. (PubMed id 7490460)9 Fontan E....Fauve R.M. (J. Immunol. Methods 1995)
    250. [Concentrations of B2-microglobulin and Tamm-Horsfall protein in cyst fluid and urinary excretion of these proteins in patients with simple renal cysts]. (PubMed id 7800578)9 Franek E....Myrta J. (Pol. Arch. Med. Wewn. 1994)
    251. Limitation of shock-wave-induced renal tubular dysfunction by nifedipine. (PubMed id 7511106)9 Strohmaier W.L....Bichler K.H. (Eur. Urol. 1994)
    252. Cloning and expression of a cDNA encoding mouse endoglin, an endothelial cell TGF-beta ligand. (PubMed id 8125301)9 Ge A.Z. and Butcher E.C. (Gene 1994)
    253. Tamm-Horsfall glycoprotein: role in inhibition and promotion of renal calcium oxalate stone formation studied with Fourier-transform infrared spectroscopy. (PubMed id 8070085)9 KnAPrle R....Rutishauser G. (Clin. Chem. 1994)
    254. Zeta potential distribution on calcium oxalate crystal and Tamm-Horsfall protein surface analyzed with Doppler electrophoretic light scattering. (PubMed id 8015107)9 BoevAc E.R....SchrAPder F.H. (J. Urol. 1994)
    255. [Biologic role of Tamm-Horsfall glycoprotein]. (PubMed id 8139370)9 Vranes J. and Zagar Z. (Lijec Vjesn 1993)
    256. [A study of antigenic characterization of Tamm-Horsfall glycoprotein using monoclonal antibodies]. (PubMed id 7686237)9 Yamamoto T....Maki S. (Nihon Jinzo Gakkai Shi 1993)
    257. Localization of the Tamm-Horsfall glycoprotein (uromodulin) gene to chromosome 16p12.3-16p13.11. (PubMed id 8179291)9 Pook M.A....Thakker R.V. (Ann. Hum. Genet. 1993)

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    Entrez Gene: 7369 HGNC: 12559 AceView: UMOD Ensembl:ENSG00000169344 euGenes: HUgn7369
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