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Aliases for UMOD Gene

Aliases for UMOD Gene

  • Uromodulin 2 3
  • Tamm-Horsfall Urinary Glycoprotein 3 4
  • Uromucoid 2 3
  • ADMCKD2 3 6
  • HNFJ1 3 6
  • MCKD2 3 6
  • FJHN 3 6
  • THP 3 4
  • Uromodulin (Uromucoid, Tamm-Horsfall Glycoprotein) 2
  • Tamm-Horsfall Glycoprotein 2
  • HNFJ 3
  • THGP 3

External Ids for UMOD Gene

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 medullary cystic kidney disease 2 and glomerulocystic kidney disease with hyperuricemia and isosthenuria. GO annotations related to this gene include calcium ion binding. An important paralog of this gene is OIT3.

UniProtKB/Swiss-Prot for UMOD Gene

  • Uromodulin: Functions in biogenesis and organization of the apical membrane of epithelial cells of the thick ascending limb of Henles 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.

  • 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 Gene

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

Genomics for UMOD Gene

Genomic Location for UMOD Gene

Start:
20,333,051 bp from pter
End:
20,356,301 bp from pter
Size:
23,251 bases
Orientation:
Minus strand

Genomic View for UMOD Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for UMOD Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for UMOD Gene

Regulatory Elements for UMOD Gene

Proteins for UMOD Gene

  • 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:
    No Data Available
    Miscellaneous:
    • A specific, but as yet unidentified, protease(s) cleaves off and releases UMOD into urine

    Alternative splice isoforms for UMOD Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for UMOD Gene

Proteomics data for UMOD Gene at MOPED

Post-translational modifications for UMOD Gene

  • 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).
  • Proteolytically cleaved at a conserved C-terminal proteolytic cleavage site to generate the secreted form found into urine.
  • Glycosylation at Asn38, Asn76, Asn80, Asn232, Asn275, Asn322, and Asn396

No data available for DME Specific Peptides for UMOD Gene

Domains for UMOD Gene

Suggested Antigen Peptide Sequences for UMOD Gene

Graphical View of Domain Structure for InterPro Entry

P07911

UniProtKB/Swiss-Prot:

UROM_HUMAN
Domain:
  • The ZP domain is involved in the polymerization of the protein to promote the formation of complex gel-like structure:
    • P07911
  • Contains 3 EGF-like domains.:
    • P07911
  • Contains 1 ZP domain.:
    • P07911
genes like me logo Genes that share domains with UMOD: view

No data available for Gene Families for UMOD Gene

Function for UMOD Gene

Molecular function for UMOD Gene

GENATLAS Biochemistry: uromodulin,uromucoid,expressed in kidney,homolog to GP2
UniProtKB/Swiss-Prot Function: Uromodulin: Functions in biogenesis and organization of the apical membrane of epithelial cells of the thick ascending limb of Henles 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.
UniProtKB/Swiss-Prot 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 Ontology (GO) - Molecular Function for UMOD Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005509 calcium ion binding IEA --
GO:0005515 protein binding --
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

Animal Models for UMOD Gene

MGI Knock Outs for UMOD:

No data available for Enzyme Numbers (IUBMB) , miRNA , Transcription Factor Targeting 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. Secreted into urine after cleavage. Colocalized with NPHP1 and KIF3A.
Uromodulin, secreted form: Secreted.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for UMOD Gene COMPARTMENTS Subcellular localization image for UMOD gene
Compartment Confidence
cytoskeleton 5
extracellular 5
plasma membrane 5
endoplasmic reticulum 2
golgi apparatus 2
cytosol 1
lysosome 1
nucleus 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 --
GO:0005615 extracellular space IEA --
GO:0005794 Golgi apparatus IEA --
GO:0016323 basolateral plasma membrane IDA 20798515
genes like me logo Genes that share ontologies with UMOD: view

Pathways for UMOD Gene

SuperPathways for UMOD Gene

No Data Available

Interacting Proteins for UMOD Gene

STRING Interaction Network Preview (showing 2 interactants - click image to see details)
http://string-db.org/version_10/api/image/networkList?limit=0&targetmode=proteins&caller_identity=gene_cards&network_flavor=evidence&identifiers=9606.ENSP00000306279%0d%0a9606.ENSP00000236826%0d%0a9606.ENSP00000403495%0d%0a
Selected Interacting proteins: ENSP00000306279 P07911-UROM_HUMAN for UMOD Gene via STRING I2D

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

No data available for Pathways by source for UMOD Gene

Compounds for UMOD Gene

(29) Novoseek inferred chemical compound relationships for UMOD Gene

Compound -log(P) Hits PubMed IDs
thps 90.1 7
tamm 85.4 7
calcium oxalate 82 40
uric acid 64.5 13
sialic acid 60.7 19
genes like me logo Genes that share compounds with UMOD: view

Transcripts for UMOD Gene

Unigene Clusters for UMOD Gene

Uromodulin:
Representative Sequences:

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
ECgene alternative splicing isoforms for
UMOD

Expression for UMOD Gene

mRNA expression in normal human tissues for UMOD Gene

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

This gene is overexpressed in Kidney - Cortex (52.6).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, and MOPED for UMOD Gene

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 (at protein level). Synthesized exclusively in the kidney. Expressed exclusively by epithelial cells of the thick ascending limb of Henles loop (TALH) and of distal convoluted tubule lumen. Most abundant protein in normal urine.
genes like me logo Genes that share expressions 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 35
  • 99.55 (n)
  • 99.33 (a)
UMOD 36
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia UMOD 35
  • 85.94 (n)
  • 84.2 (a)
UMOD 36
  • 83 (a)
OneToOne
dog
(Canis familiaris)
Mammalia UMOD 35
  • 84.95 (n)
  • 83.23 (a)
UMOD 36
  • 83 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Umod 35
  • 79.52 (n)
  • 77.96 (a)
Umod 16
Umod 36
  • 76 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia UMOD 36
  • 67 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia UMOD 36
  • 70 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Umod 35
  • 79.45 (n)
  • 78.32 (a)
chicken
(Gallus gallus)
Aves ZPD 36
  • 24 (a)
OneToMany
lizard
(Anolis carolinensis)
Reptilia -- 36
  • 52 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC101731733 35
  • 54.3 (n)
  • 52.73 (a)
zebrafish
(Danio rerio)
Actinopterygii BX005305.7 36
  • 25 (a)
ManyToMany
BX072532.1 36
  • 26 (a)
ManyToMany
BX072532.2 36
  • 25 (a)
ManyToMany
BX072532.3 36
  • 16 (a)
ManyToMany
BX072532.4 36
  • 28 (a)
ManyToMany
BX072532.5 36
  • 16 (a)
ManyToMany
BX284640.1 36
  • 43 (a)
ManyToMany
CABZ01048956.1 36
  • 8 (a)
ManyToMany
CABZ01048958.1 36
  • 28 (a)
ManyToMany
CABZ01048960.1 36
  • 16 (a)
ManyToMany
CABZ01078124.1 36
  • 6 (a)
ManyToMany
si:ch211-226h7.2 36
  • 15 (a)
ManyToMany
si:ch211-226h7.5 36
  • 17 (a)
ManyToMany
si:ch211-226h7.6 36
  • 17 (a)
ManyToMany
si:ch211-226h7.8 36
  • 12 (a)
ManyToMany
si:ch73-180n10.1 36
  • 27 (a)
ManyToMany
si:ch73-181m17.1 36
  • 8 (a)
ManyToMany
si:ch73-338o16.4 36
  • 19 (a)
ManyToMany
si:dkey-239b22.2 36
  • 20 (a)
ManyToMany
si:dkey-9c18.13 36
  • 17 (a)
ManyToMany
zgc:153932 36
  • 16 (a)
ManyToMany
zgc:66449 36
  • 23 (a)
ManyToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 20 (a)
OneToMany
Species with no ortholog for UMOD:
  • 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)

Paralogs for UMOD Gene

Paralogs for UMOD Gene

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

Variants for UMOD Gene

Sequence variations from dbSNP and Humsavar for UMOD Gene

SNP ID Clin Chr 16 pos Sequence Context AA Info Type MAF
rs1123670 -- 20,334,293(+) TCAAC(A/G)AATAT intron-variant
rs1126652 -- 20,337,338(-) ACCTG(C/G)ACTGT reference, missense
rs4293393 -- 20,353,266(-) ATGTC(C/T)GAACT upstream-variant-2KB
rs4486897 -- 20,333,815(-) ctcag(A/G)agatc intron-variant
rs4496152 -- 20,336,327(-) TAGTA(A/G)ATGTG intron-variant

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

Variant ID Type Subtype PubMed ID
nsv436835 CNV Insertion 17901297
nsv1759 CNV Insertion 18451855

Relevant External Links for UMOD Gene

HapMap Linkage Disequilibrium report
UMOD
Human Gene Mutation Database (HGMD)
UMOD

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

Disorders for UMOD Gene

(3) OMIM Diseases for UMOD Gene (191845)

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}. 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:17010121, ECO:0000269 PubMed:25436415}. 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.

(3) University of Copenhagen DISEASES for UMOD Gene

(45) Novoseek inferred disease relationships for UMOD Gene

Disease -log(P) Hits PubMed IDs
hyperuricemic nephropathy, familial juvenile 97.6 21
medullary cystic kidney 95.7 15
cystic kidney disease 87.4 14
hyperuricaemic nephropathy 85.5 6
hyperuricemia 84.7 13

Relevant External Links for UMOD

GeneTests
UMOD
GeneReviews
UMOD
Genetic Association Database (GAD)
UMOD
Human Genome Epidemiology (HuGE) Navigator
UMOD
genes like me logo Genes that share disorders with UMOD: view

Publications for UMOD Gene

  1. Uromodulin (Tamm-Horsfall glycoprotein/uromucoid) is a phosphatidylinositol-linked membrane protein. (PMID: 2249987) Rindler M.J. … Peraldi M.-N. (J. Biol. Chem. 1990) 3 4 23
  2. UROMODULIN mutations cause familial juvenile hyperuricemic nephropathy. (PMID: 12629136) Turner J.J.O. … Thakker R.V. (J. Clin. Endocrinol. Metab. 2003) 3 4 23
  3. Renal manifestations of a mutation in the uromodulin (Tamm Horsfall protein) gene. (PMID: 12900848) Bleyer A.J. … Hart T.C. (Am. J. Kidney Dis. 2003) 3 4 23
  4. Mutations of the Uromodulin gene in MCKD type 2 patients cluster in exon 4, which encodes three EGF-like domains. (PMID: 14531790) Wolf M.T.F. … Hildebrandt F. (Kidney Int. 2003) 3 4 23
  5. A cluster of mutations in the UMOD gene causes familial juvenile hyperuricemic nephropathy with abnormal expression of uromodulin. (PMID: 14569098) Dahan K. … Pirson Y. (J. Am. Soc. Nephrol. 2003) 3 4 23

Products for UMOD Gene

Sources for UMOD Gene

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