UMOD Gene (Protein Coding)

Uromodulin

GC16M020344
GIFtS:
42
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 crystallizat... See more...

Aliases for UMOD Gene

Aliases for UMOD Gene

  • Uromodulin 2 3 4 5
  • Tamm-Horsfall Urinary Glycoprotein 3 4
  • Uromucoid 2 3
  • THP 3 4
  • Uromodulin (Uromucoid, Tamm-Horsfall Glycoprotein) 2
  • Tamm-Horsfall Glycoprotein 2
  • ADMCKD2 3
  • HNFJ1 3
  • MCKD2 3
  • FJHN 3
  • HNFJ 3
  • THGP 3

External Ids for UMOD Gene

Previous GeneCards Identifiers for UMOD Gene

  • GC16P019829
  • GC16M019774
  • GC16M020271
  • GC16M020310
  • GC16M020251
  • GC16M018883

Summaries for UMOD Gene

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 Hyperuricemic Nephropathy, Familial Juvenile, 1 and Medullary Cystic Kidney Disease 2. Among its related pathways are Metabolism of proteins and Transport to the Golgi and subsequent modification. Gene Ontology (GO) annotations related to this gene include calcium ion binding and IgG binding. An important paralog of this gene is GP2.

UniProtKB/Swiss-Prot Summary for UMOD Gene

  • [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 that may play a role in the water barrier permeability (Probable). May serve as a receptor for binding and endocytosis of cytokines (IL-1, IL-2) and TNF (PubMed:3498215). Facilitates neutrophil migration across renal epithelia (PubMed:20798515).
  • [Uromodulin, secreted form]: In the urine, may contribute to colloid osmotic pressure, retards passage of positively charged electrolytes, prevents urinary tract infection and inhibits formation of liquid containing supersaturated salts and subsequent formation of salt crystals.

Gene Wiki entry for UMOD Gene

Additional gene information for UMOD Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for UMOD Gene

Genomics for UMOD Gene

GeneHancer (GH) Regulatory Elements for UMOD Gene

Promoters and enhancers for UMOD Gene
GeneHancer (GH) Identifier GH Type GH
Score		 GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites		 Gene Targets
GH16J020348 Enhancer 0.5 ENCODE 0.4 +7.7 7727 0.3 CTCF RAD21 GABPB1 MAX TARDBP ZNF143 EZH2 HNRNPL HE856012-003 UMOD
GH16J020353 Enhancer 0.3 Ensembl 0.7 +3.1 3100 0.4 CEBPB UMOD HE856012-003
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around UMOD on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for UMOD

Top Transcription factor binding sites by QIAGEN in the UMOD gene promoter:
  • AhR
  • Brachyury
  • HFH-1
  • Nkx3-1
  • Nkx3-1 v1
  • Nkx3-1 v2
  • Nkx3-1 v3
  • Nkx3-1 v4
  • XBP-1

Genomic Locations for UMOD Gene

Genomic Locations for UMOD Gene
chr16:20,333,051-20,356,301
(GRCh38/hg38)
Size:
23,251 bases
Orientation:
Minus strand
chr16:20,344,373-20,367,623
(GRCh37/hg19)
Size:
23,251 bases
Orientation:
Minus strand

Genomic View for UMOD Gene

Genes around UMOD on UCSC Golden Path with GeneCards custom track

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

RefSeq DNA sequence for UMOD Gene

Proteins for UMOD Gene

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

    Protein Symbol:
    P07911-UROM_HUMAN
    Recommended name:
    Uromodulin
    Protein Accession:
    P07911
    Secondary Accessions:
    • B3KP48
    • B3KRN9
    • E9PEA4
    • Q540J6
    • Q6ZS84
    • Q8IYG0

    Protein attributes for UMOD Gene

    Size:
    640 amino acids
    Molecular mass:
    69761 Da
    Quaternary structure:
    • [Uromodulin, secreted form]: homodimer that then polymerizes into long filaments.

    Three dimensional structures from OCA and Proteopedia for UMOD Gene

    Alternative splice isoforms for UMOD Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for UMOD Gene

Protein Expression for UMOD Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for UMOD Gene

  • N-glycosylated (PubMed:19005207, PubMed:26673890, PubMed:26811476). 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) (PubMed:22171320).
  • Proteolytically cleaved at a conserved C-terminal proteolytic cleavage site to generate the secreted form found in urine (PubMed:18375198, PubMed:19005207). This cleavage is catalyzed by HPN (PubMed:26673890).
  • Glycosylation at Asn38, Asn76, Asn80, Asn232, Asn275, Asn322, Asn396, and Asn513
  • Modification sites at PhosphoSitePlus
  • Glycosylation from GlyConnect
    • UROM_HUMAN (613)

Other Protein References for UMOD Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for UMOD Gene

Domains & Families for UMOD Gene

Gene Families for UMOD Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Plasma proteins
  • Predicted intracellular proteins
  • Predicted membrane proteins
  • Predicted secreted proteins

Protein Domains for UMOD Gene

Blocks:
  • Aspartic acid and asparagine hydroxylation site
  • EGF-like calcium-binding
  • Endoglin/CD105 antigen
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for UMOD Gene

GenScript: Design optimal peptide antigens:
  • Uromodulin (Q8NHW8_HUMAN)
  • Tamm-Horsfall urinary glycoprotein (UROM_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P07911

UniProtKB/Swiss-Prot:

UROM_HUMAN :
  • The ZP domain mediates polymerization, leading to the formation of long filaments.
Domain:
  • The ZP domain mediates polymerization, leading to the formation of long filaments.
genes like me logo Genes that share domains with UMOD: view

Function for UMOD Gene

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Molecular function for UMOD Gene

UniProtKB/Swiss-Prot 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 that may play a role in the water barrier permeability (Probable). May serve as a receptor for binding and endocytosis of cytokines (IL-1, IL-2) and TNF (PubMed:3498215). Facilitates neutrophil migration across renal epithelia (PubMed:20798515).
UniProtKB/Swiss-Prot Function:
[Uromodulin, secreted form]: In the urine, may contribute to colloid osmotic pressure, retards passage of positively charged electrolytes, prevents urinary tract infection and inhibits formation of liquid containing supersaturated salts and subsequent formation of salt crystals.
GENATLAS Biochemistry:
uromodulin,uromucoid,expressed in kidney,homolog to GP2

Phenotypes From GWAS Catalog for UMOD Gene

Gene Ontology (GO) - Molecular Function for UMOD Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005509 calcium ion binding IEA --
GO:0019864 IgG binding IDA 20798515
genes like me logo Genes that share ontologies with UMOD: view
genes like me logo Genes that share phenotypes with UMOD: view

Human Phenotype Ontology for UMOD Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for UMOD Gene

MGI Knock Outs for UMOD:

Animal Model Products

CRISPR Products

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No data available for Enzyme Numbers (IUBMB) , miRNA , Transcription Factor Targets and HOMER Transcription for UMOD Gene

Localization for UMOD Gene

Subcellular locations from UniProtKB/Swiss-Prot for UMOD Gene

Apical cell membrane; Lipid-anchor, GPI-anchor. Basolateral cell membrane; Lipid-anchor, GPI-anchor. Cell projection, cilium membrane. Note=Only a small fraction sorts to the basolateral pole of tubular epithelial cells compared to apical localization (PubMed:22776760). Secreted into urine after cleavage (PubMed:18375198, PubMed:26811476). Colocalizes with NPHP1 and KIF3A (PubMed:20172860). {ECO:0000269 PubMed:18375198, ECO:0000269 PubMed:20172860, ECO:0000269 PubMed:26811476, ECO:0000269 PubMed:3453112, ECO:0000269 PubMed:7028707}.
[Uromodulin, secreted form]: Secreted. Note=Detected in urine. {ECO:0000269 PubMed:18375198, ECO:0000269 PubMed:26811476, ECO:0000269 PubMed:3453112, ECO:0000269 PubMed:7028707}.

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 UMOD gene
Compartment Confidence
plasma membrane 5
cytoskeleton 5
extracellular 4
golgi apparatus 4
nucleus 2
endoplasmic reticulum 2
cytosol 2
lysosome 2
mitochondrion 1
peroxisome 1
endosome 1

Gene Ontology (GO) - Cellular Components for UMOD Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000922 spindle pole IDA 20172860
GO:0005576 extracellular region IEA --
GO:0005796 Golgi lumen TAS --
GO:0005886 plasma membrane IEA --
GO:0005929 cilium IEA,IDA 20172860
genes like me logo Genes that share ontologies with UMOD: view

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

Pathways & Interactions for UMOD Gene

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

Pathways by source for UMOD Gene

SIGNOR curated interactions for UMOD Gene

Is activated by:

Gene Ontology (GO) - Biological Process for UMOD Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006968 cellular defense response TAS 2409603
GO:0007157 heterophilic cell-cell adhesion via plasma membrane cell adhesion molecules IDA 20798515
GO:0007159 leukocyte cell-cell adhesion IDA 20798515
GO:0007588 excretion IEA --
GO:0008285 negative regulation of cell proliferation TAS 2409603
genes like me logo Genes that share ontologies with UMOD: view

Drugs & Compounds for UMOD Gene

Products:

  1. Drug

(14) Drugs for UMOD Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(15) Additional Compounds for UMOD Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with UMOD: view

Transcripts for UMOD Gene

Products:

  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone

mRNA/cDNA for UMOD Gene

3 REFSEQ mRNAs :
11 NCBI additional mRNA sequence :
13 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Clone Products

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

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: -
SP6: - - - - - - - - -
SP7: - - - - - - - -
SP8: - - - - - - - -
SP9: - - - - - -
SP10: - - - -
SP11: - - - - -
SP12: - -
SP13: - - - -

ExUns: 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16
SP1: -
SP2: -
SP3: -
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:
SP12:
SP13:

Relevant External Links for UMOD Gene

GeneLoc Exon Structure for
UMOD

Expression for UMOD Gene

Products:

  1. Primer
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mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for UMOD Gene

mRNA expression in normal human tissues for UMOD Gene
mRNA expression by GTEx for UMOD GenemRNA expression by BioGPS for UMOD Gene

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

This gene is overexpressed in Kidney - Cortex (x52.6).

Protein differential expression in normal tissues from HIPED for UMOD Gene

This gene is overexpressed in Urine (68.6).

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



Protein tissue co-expression partners for UMOD Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for UMOD

SOURCE GeneReport for Unigene cluster for UMOD Gene:

Hs.654425

mRNA Expression by UniProt/SwissProt for UMOD Gene:

P07911-UROM_HUMAN
Tissue specificity: Expressed in the tubular cells of the kidney. Most abundant protein in normal urine (at protein level). 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.

Evidence on tissue expression from TISSUES for UMOD Gene

  • Kidney(5)
  • Urine(3.1)

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

Germ Layers:
  • mesoderm
Systems:
  • immune
  • skeleton
  • urinary
Regions:
Abdomen:
  • kidney
Pelvis:
  • ureter
  • urinary bladder
Limb:
  • digit
  • finger
  • foot
  • hand
  • knee
  • lower limb
  • toe
  • upper limb
  • wrist
General:
  • blood
  • white blood cell
genes like me logo Genes that share expression patterns with UMOD: view

Orthologs for UMOD Gene

This gene was present in the common ancestor of chordates.

Orthologs for UMOD Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
 Mammalia UMOD 31 30
  • 99.55 (n)
 OneToOne
cow
(Bos Taurus)
 Mammalia UMOD 31 30
  • 85.94 (n)
 OneToOne
dog
(Canis familiaris)
 Mammalia UMOD 31 30
  • 84.95 (n)
 OneToOne
mouse
(Mus musculus)
 Mammalia Umod 17 31 30
  • 79.52 (n)
rat
(Rattus norvegicus)
 Mammalia Umod 30
  • 79.45 (n)
platypus
(Ornithorhynchus anatinus)
 Mammalia UMOD 31
  • 70 (a)
 OneToOne
oppossum
(Monodelphis domestica)
 Mammalia UMOD 31
  • 67 (a)
 OneToOne
chicken
(Gallus gallus)
 Aves ZPD 31
  • 24 (a)
 OneToMany
lizard
(Anolis carolinensis)
 Reptilia -- 31
  • 52 (a)
 OneToMany
tropical clawed frog
(Silurana tropicalis)
 Amphibia LOC101731733 30
  • 54.3 (n)
zebrafish
(Danio rerio)
 Actinopterygii BX284640.1 31
  • 43 (a)
 ManyToMany
CABZ01048958.1 31
  • 28 (a)
 ManyToMany
BX072532.4 31
  • 28 (a)
 ManyToMany
si:ch73-180n10.1 31
  • 27 (a)
 ManyToMany
BX072532.1 31
  • 26 (a)
 ManyToMany
BX072532.2 31
  • 25 (a)
 ManyToMany
BX005305.7 31
  • 25 (a)
 ManyToMany
zgc:66449 31
  • 23 (a)
 ManyToMany
si:dkey-239b22.2 31
  • 20 (a)
 ManyToMany
si:ch73-338o16.4 31
  • 19 (a)
 ManyToMany
si:ch211-226h7.5 31
  • 17 (a)
 ManyToMany
si:dkey-9c18.13 31
  • 17 (a)
 ManyToMany
si:ch211-226h7.6 31
  • 17 (a)
 ManyToMany
CABZ01048960.1 31
  • 16 (a)
 ManyToMany
zgc:153932 31
  • 16 (a)
 ManyToMany
BX072532.3 31
  • 16 (a)
 ManyToMany
BX072532.5 31
  • 16 (a)
 ManyToMany
si:ch211-226h7.2 31
  • 15 (a)
 ManyToMany
si:ch211-226h7.8 31
  • 12 (a)
 ManyToMany
si:ch73-181m17.1 31
  • 8 (a)
 ManyToMany
CABZ01048956.1 31
  • 8 (a)
 ManyToMany
CABZ01078124.1 31
  • 6 (a)
 ManyToMany
sea squirt
(Ciona savignyi)
 Ascidiacea -- 31
  • 20 (a)
 OneToMany
Species where no ortholog for UMOD 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)
  • baker's yeast (Saccharomyces cerevisiae)
  • 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)
  • fruit fly (Drosophila melanogaster)
  • 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 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)
  • worm (Caenorhabditis elegans)

Evolution for UMOD Gene

ENSEMBL:
Gene Tree for UMOD (if available)
TreeFam:
Gene Tree for UMOD (if available)
Aminode:
Evolutionary constrained regions (ECRs) for UMOD: view image

Paralogs for UMOD Gene

Paralogs for UMOD Gene

(13) SIMAP similar genes for UMOD Gene using alignment to 11 proteins:

  • UROM_HUMAN
  • E9PEA4_HUMAN
  • I3L1A9_HUMAN
  • I3L1M3_HUMAN
  • I3L2J2_HUMAN
  • I3L2K2_HUMAN
  • I3L3E0_HUMAN
  • I3L3Z4_HUMAN
  • I3L4B0_HUMAN
  • I3L4Y6_HUMAN
  • Q8NHW8_HUMAN
genes like me logo Genes that share paralogs with UMOD: view

Variants for UMOD Gene

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Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for UMOD Gene

SNP ID Clinical significance and condition Chr 16 pos Variation AA Info Type
562322 Likely Pathogenic: not provided 20,348,975(-) A/T MISSENSE_VARIANT
562434 Likely Pathogenic: not provided 20,349,046(-) G/T MISSENSE_VARIANT
586920 Uncertain Significance: not provided 20,349,185(-) G/T MISSENSE_VARIANT
598312 Uncertain Significance: not provided 20,337,441(-) AGT/A NONSENSE
rs1057515585 Pathogenic: Uromodulin-associated kidney disease 20,348,811(-) C/A NONSENSE

Additional dbSNP identifiers (rs#s) for UMOD Gene

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

Variant ID Type Subtype PubMed ID
dgv2795n100 CNV gain 25217958
dgv4942n54 CNV gain 21841781
esv3638138 CNV gain 21293372
nsv1759 CNV insertion 18451855
nsv436835 CNV insertion 17901297

Variation tolerance for UMOD Gene

Residual Variation Intolerance Score: 13.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 5.66; 72.86% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for UMOD Gene

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

SNP Genotyping and Copy Number Assay Products

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

Disorders for UMOD Gene

MalaCards: The human disease database

(41) MalaCards diseases for UMOD Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards

- elite association - COSMIC cancer census association via MalaCards
Search UMOD in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

UROM_HUMAN
  • 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. {ECO:0000269 PubMed:12471200, ECO:0000269 PubMed:12629136, ECO:0000269 PubMed:12900848, ECO:0000269 PubMed:14569098, ECO:0000269 PubMed:14570709, ECO:0000269 PubMed:15086896, ECO:0000269 PubMed:15575003, ECO:0000269 PubMed:15983957, ECO:0000269 PubMed:17010121, ECO:0000269 PubMed:21060763, ECO:0000269 PubMed:22776760, ECO:0000269 PubMed:23197950, ECO:0000269 PubMed:23988501, ECO:0000269 PubMed:25436415}. 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. {ECO:0000269 PubMed:12471200, ECO:0000269 PubMed:14531790, ECO:0000269 PubMed:14570709, ECO:0000269 PubMed:17010121, ECO:0000269 PubMed:25436415, ECO:0000269 PubMed:27729211}. 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. {ECO:0000269 PubMed:14570709, ECO:0000269 PubMed:17010121}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for UMOD

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

No data available for Genatlas for UMOD Gene

Publications for UMOD Gene

  1. Uromodulin is expressed in renal primary cilia and UMOD mutations result in decreased ciliary uromodulin expression. (PMID: 20172860) Zaucke F … Wolf MT (Human molecular genetics 2010) 3 4 23 54
  2. Uromodulin levels associate with a common UMOD variant and risk for incident CKD. (PMID: 19959715) Köttgen A … Fox CS (Journal of the American Society of Nephrology : JASN 2010) 3 23 41 54
  3. Mutation analysis of the Uromodulin gene in 96 individuals with urinary tract anomalies (CAKUT). (PMID: 18846391) Wolf MT … Hildebrandt F (Pediatric nephrology (Berlin, Germany) 2009) 3 23 41 54
  4. Defective intracellular trafficking of uromodulin mutant isoforms. (PMID: 17010121) Bernascone I … Rampoldi L (Traffic (Copenhagen, Denmark) 2006) 3 4 23 54
  5. 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. (PMID: 15983957) Lens XM … Barrio-Lucía V (American journal of kidney diseases : the official journal of the National Kidney Foundation 2005) 3 4 23 54

ExternalLinks

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