Aliases for UMOD Gene
Aliases for UMOD Gene
External Ids for UMOD Gene
- HGNC: 12559
- Entrez Gene: 7369
- Ensembl: ENSG00000169344
- OMIM: 191845
- UniProtKB: P07911
Previous GeneCards Identifiers for UMOD Gene
- GC16P019829
- GC16M019774
- GC16M020271
- GC16M020310
- GC16M020251
- GC16M018883
Summaries 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 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 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.
Additional gene information for UMOD Gene
- Monarch Initiative
- Search for UMOD at DataMed
- Search for UMOD at HumanCyc
No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for UMOD Gene
Genomics for UMOD Gene
GeneHancer (GH) Regulatory Elements 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 |
---|---|---|---|---|---|---|---|---|---|---|
GH16I020350 | Promoter | 0.6 | EPDnew | 550.4 | +5.5 | 5483 | 0.1 | HLF | UMOD GP2 | |
GH16I020352 | Promoter | 0.5 | EPDnew | 550.8 | +3.6 | 3571 | 0.1 | UMOD GP2 | ||
GH16I020383 | Enhancer | 0.7 | ENCODE | 0.3 | -27.3 | -27263 | 0.2 | ELF3 CTCF RB1 ZNF384 RAD21 ZKSCAN1 CTBP1 SMC3 ZNF143 ZNF444 | ENSG00000263237 PDILT UMOD | |
GH16I020348 | Enhancer | 0.5 | ENCODE | 0.4 | +7.7 | 7727 | 0.3 | CTCF MAX ZNF143 RAD21 EZH2 | UMOD GP2 | |
GH16I020363 | Enhancer | 0.2 | ENCODE | 0.4 | -7.1 | -7103 | 0.1 | PDILT UMOD ENSG00000263237 |
Regulatory Element Products
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)
Genomic View for UMOD Gene
- Cytogenetic band:
-
- 16p12.3 by Ensembl
- 16p12.3 by Entrez Gene
- 16p12.3 by HGNC


RefSeq DNA sequence 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
- 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.
Protein Expression for UMOD Gene
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 isoforms=2, 3, 4, 538, isoforms=3, 4, 576, posLast=8080, isoforms=2, 4, 5232, isoforms=2, 3, 4, 5275, isoforms=2, 3, 4, 5322, and posLast=396396
Other Protein References for UMOD Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- R&D Systems Antibodies for UMOD (Uromodulin)
-
Custom Antibody ServicesOriGene Antibodies for UMOD
- Novus Biologicals Antibodies for UMOD
-
Abcam antibodies for UMOD
-
Cloud-Clone Corp. Antibodies for UMOD
- Invitrogen Antibodies for UMOD
- GeneTex UMOD antibody for UMOD
-
Santa Cruz Biotechnology (SCBT) Antibodies for UMOD
Protein Products
-
OriGene Purified Proteins for UMOD
- Search Origene for MassSpec and Protein Over-expression Lysates for UMOD
- Origene Custom Protein Services for UMOD
- ProSpec Recombinant Proteins for UMOD
-
Cloud-Clone Corp. Proteins for UMOD
- Search GeneTex for Proteins for UMOD
-
Abcam proteins for UMOD
Assay Products
- R&D Systems Luminex Assays, ELISAs, and other biochemical assays for UMOD (Uromodulin)
-
Abcam assays for UMOD
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
Suggested Antigen Peptide Sequences for UMOD Gene
- GenScript: Design optimal peptide antigens:
Graphical View of Domain Structure for InterPro Entry
P07911UniProtKB/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.
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 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.
Phenotypes From GWAS Catalog for UMOD Gene
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005509 | calcium ion binding | IEA | -- |
GO:0019864 | IgG binding | IDA | 20798515 |
Phenotypes for UMOD Gene
- MGI mutant phenotypes for UMOD:
- inferred from 4 alleles
- GenomeRNAi human phenotypes for UMOD:
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
- Cyagen custom Knockout/knockin (KOKI) mouse models for UMOD
-
-
ViGene Biosciences lentiviral particle packaged cDNA for UMOD gene
-
ViGene Biosciences ready-to-package AAV shRNAs for UMOD gene
- Search ViGene Biosciences for UMOD
CRISPR Products
-
OriGene CRISPR knockouts for UMOD
- genomics-online: gRNA clones - Search results for 106 available Uromodulin gene related products
- Overview of 106 available Uromodulin gene related products
- Applied Biological Materials CRISPR for UMOD
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for UMOD
- GenScript: Design CRISPR guide RNA sequences for UMOD
miRNA Products
- Search ViGene Biosciences for UMOD
Inhibitory RNA Products
- Origene RNAi, sirna, and shrna products in human, mouse, rat for UMOD
- Browse OriGene Inhibitory RNA Products For UMOD
- genomics-online: shRNA clones - Search results for 106 available Uromodulin gene related products
- Overview of 106 available Uromodulin gene related products
-
ViGene Biosciences ready-to-package AAV shRNAs for UMOD gene
Clone Products
- Sino Biological Human cDNA Clone for UMOD
- Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat
- VectorBuilder custom plasmid, inducible vectors for UMOD
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for UMOD
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- Applied Biological Materials Clones for UMOD
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
Cell Line Products
-
Horizon Cell Lines for UMOD
-
ViGene Biosciences adenoviral particle packaged cDNA for UMOD gene
-
ViGene Biosciences lentiviral particle packaged cDNA for UMOD gene
-
ViGene Biosciences ready-to-package AAV shRNAs for UMOD gene
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}.
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 | IDA,IEA | 20172860 |
No data available for Subcellular locations from the Human Protein Atlas (HPA) for UMOD Gene
Pathways & Interactions for UMOD Gene
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Metabolism of proteins | ||
2 | Transport to the Golgi and subsequent modification |
Pathways by source for UMOD Gene
3 Reactome pathways for UMOD Gene
Interacting Proteins 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 |
No data available for SIGNOR curated interactions for UMOD Gene
Transcripts for UMOD Gene
mRNA/cDNA for UMOD Gene
- (10) REFSEQ mRNAs :
- (8) Additional mRNA sequences :
- (103) Selected AceView cDNA sequences:
- (13) Ensembl transcripts including schematic representations, and UCSC links where relevant :
CRISPR Products
-
OriGene CRISPR knockouts for UMOD
- genomics-online: gRNA clones - Search results for 106 available Uromodulin gene related products
- Overview of 106 available Uromodulin gene related products
- Applied Biological Materials CRISPR for UMOD
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for UMOD
- GenScript: Design CRISPR guide RNA sequences for UMOD
miRNA Products
- Search ViGene Biosciences for UMOD
Inhibitory RNA Products
- Origene RNAi, sirna, and shrna products in human, mouse, rat for UMOD
- Browse OriGene Inhibitory RNA Products For UMOD
- genomics-online: shRNA clones - Search results for 106 available Uromodulin gene related products
- Overview of 106 available Uromodulin gene related products
-
ViGene Biosciences ready-to-package AAV shRNAs for UMOD gene
Clone Products
- Sino Biological Human cDNA Clone for UMOD
- Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat
- VectorBuilder custom plasmid, inducible vectors for UMOD
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for UMOD
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- Applied Biological Materials Clones for UMOD
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
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: |
Expression for UMOD Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
-
Kidney (Urinary System)
- Loop of Henle Cells Loop of Henle
- Distal Tubule Cells Distal Tubule
- Loop of Henle
- Distal Tubule
- Epithelial Tubule
-
Epithelial Cells
- Loop of Henle Cells Loop of Henle
- Distal Tubule Cells Distal Tubule
-
Skeletal Muscle (Muscoskeletal System)
- Muscle Progenitor Cells Mandibular Arch Muscles
- Muscle Progenitor Cells Hyoid Arch Muscles
mRNA differential expression in normal tissues according to GTEx for UMOD Gene
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for UMOD Gene
NURSA nuclear receptor signaling pathways regulating expression of UMOD Gene:
UMODSOURCE GeneReport for Unigene cluster for UMOD Gene:
Hs.654425mRNA Expression by UniProt/SwissProt for UMOD Gene:
P07911-UROM_HUMANEvidence 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
- mesoderm
- immune
- skeleton
- urinary
- kidney
- ureter
- urinary bladder
- digit
- finger
- foot
- hand
- knee
- lower limb
- toe
- upper limb
- wrist
- blood
- white blood cell
Primer Products
-
OriGene qPCR primer pairs for UMOD
- genomics-online: primer clones - Search results for 106 available Uromodulin gene related products
- Overview of 106 available Uromodulin gene related products
Orthologs for UMOD Gene
This gene was present in the common ancestor of chordates.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
chimpanzee (Pan troglodytes) |
Mammalia | UMOD 33 34 |
|
||
cow (Bos Taurus) |
Mammalia | UMOD 33 34 |
|
||
dog (Canis familiaris) |
Mammalia | UMOD 33 34 |
|
||
mouse (Mus musculus) |
Mammalia | Umod 33 16 34 |
|
||
rat (Rattus norvegicus) |
Mammalia | Umod 33 |
|
||
platypus (Ornithorhynchus anatinus) |
Mammalia | UMOD 34 |
|
OneToOne | |
oppossum (Monodelphis domestica) |
Mammalia | UMOD 34 |
|
OneToOne | |
chicken (Gallus gallus) |
Aves | ZPD 34 |
|
OneToMany | |
lizard (Anolis carolinensis) |
Reptilia | -- 34 |
|
OneToMany | |
tropical clawed frog (Silurana tropicalis) |
Amphibia | LOC101731733 33 |
|
||
zebrafish (Danio rerio) |
Actinopterygii | BX284640.1 34 |
|
ManyToMany | |
BX072532.4 34 |
|
ManyToMany | |||
CABZ01048958.1 34 |
|
ManyToMany | |||
si:ch73-180n10.1 34 |
|
ManyToMany | |||
BX072532.1 34 |
|
ManyToMany | |||
BX005305.7 34 |
|
ManyToMany | |||
BX072532.2 34 |
|
ManyToMany | |||
zgc:66449 34 |
|
ManyToMany | |||
si:dkey-239b22.2 34 |
|
ManyToMany | |||
si:ch73-338o16.4 34 |
|
ManyToMany | |||
si:dkey-9c18.13 34 |
|
ManyToMany | |||
si:ch211-226h7.6 34 |
|
ManyToMany | |||
si:ch211-226h7.5 34 |
|
ManyToMany | |||
BX072532.3 34 |
|
ManyToMany | |||
BX072532.5 34 |
|
ManyToMany | |||
CABZ01048960.1 34 |
|
ManyToMany | |||
zgc:153932 34 |
|
ManyToMany | |||
si:ch211-226h7.2 34 |
|
ManyToMany | |||
si:ch211-226h7.8 34 |
|
ManyToMany | |||
CABZ01048956.1 34 |
|
ManyToMany | |||
si:ch73-181m17.1 34 |
|
ManyToMany | |||
CABZ01078124.1 34 |
|
ManyToMany | |||
sea squirt (Ciona savignyi) |
Ascidiacea | -- 34 |
|
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)
Paralogs for UMOD Gene
(13) SIMAP similar genes for UMOD Gene using alignment to 11 proteins:
Variants for UMOD Gene
SNP ID | Clin | Chr 16 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
rs1060499657 | likely-pathogenic, Familial juvenile gout | 20,348,714(-) | T/C | coding_sequence_variant, missense_variant | |
rs111699931 | benign, Uromodulin-associated kidney disease | 20,333,210(-) | G/A/T | 3_prime_UTR_variant | |
rs113468667 | benign, Uromodulin-associated kidney disease | 20,333,184(-) | G/A | 3_prime_UTR_variant | |
rs121917768 | likely-pathogenic, pathogenic, not provided, Familial juvenile gout, Familial juvenile hyperuricemic nephropathy 1 (HNFJ1) [MIM:162000] | 20,349,071(-) | C/G/T | coding_sequence_variant, missense_variant | |
rs121917769 | pathogenic, Familial juvenile gout, Familial juvenile hyperuricemic nephropathy 1 (HNFJ1) [MIM:162000] | 20,348,925(-) | A/G | coding_sequence_variant, missense_variant |
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 |
Additional Variant Information for UMOD Gene
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for UMOD Gene
Disorders for UMOD Gene

(28) MalaCards diseases for UMOD Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards
Disorder | Aliases | PubMed IDs |
---|---|---|
hyperuricemic nephropathy, familial juvenile, 1 |
|
|
medullary cystic kidney disease 2 |
|
|
glomerulocystic kidney disease with hyperuricemia and isosthenuria |
|
|
autosomal dominant tubulointerstitial kidney disease, umod-related |
|
|
familial juvenile hyperuricaemic nephropathy |
|
|
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.
- 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.
- 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.
Additional Disease Information for UMOD
- Genetic Association Database
- (GAD)
- Human Genome Epidemiology Navigator
- (HuGE)
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
No data available for Genatlas for UMOD Gene
Publications for UMOD Gene
- 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 22 58
- 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 22 44 58
- 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 22 44 58
- Defective intracellular trafficking of uromodulin mutant isoforms. (PMID: 17010121) Bernascone I … Rampoldi L (Traffic (Copenhagen, Denmark) 2006) 3 4 22 58
- 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 22 58
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Sources for UMOD Gene
- (1) GeneCards
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- (68) Cloud-Clone Corp.
- (69) OCA
- (70) Proteopedia
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- (73) Reactome
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