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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
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 Glomerulocystic Kidney Disease With Hyperuricemia And Isosthenuria. Among its related pathways are Transport to the Golgi and subsequent modification and Metabolism of proteins. 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.
Additional gene information for UMOD Gene
- HGNC(12559)
- Entrez Gene(7369)
- Ensembl(ENSG00000169344)
- OMIM(191845)
- UniProtKB(P07911)
- Open Targets Platform(ENSG00000169344)
- Monarch Initiative
- Search for UMOD at DataMed
- Search for UMOD at HumanCyc
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 Pubs
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 |
|---|---|---|---|---|---|---|---|---|---|---|
| GH16J020385 | Promoter/Enhancer | 1.2 | Ensembl ENCODE | 0.3 | -30.2 | -30203 | 1.2 | HNRNPL GATAD2A CTCF REST RCOR2 GABPA RAD21 IRF2 SP1 SOX13 | ENSG00000263237 lnc-ACSM5-4 PDILT UMOD | |
| GH16J020348 | Enhancer | 0.5 | ENCODE | 0.4 | +7.7 | 7727 | 0.3 | HNRNPL CTCF RAD21 GABPB1 ZNF143 MAX TARDBP EZH2 | HE856012-003 UMOD GP2 | |
| GH16J020383 | Enhancer | 0.7 | ENCODE | 0.3 | -27.3 | -27263 | 0.2 | CTCF ZNF143 RXRB REST RAD21 IRF2 CTBP1 ZNF444 SMC3 ZBTB25 | ENSG00000263237 PDILT UMOD lnc-UMOD-1 | |
| GH16J020397 | Enhancer | 0.8 | ENCODE | 0.3 | -41.3 | -41315 | 0.8 | GATAD2A TFE3 RCOR2 ZNF7 RXRB IRF2 CEBPA SOX13 ETS1 TCF7 | lnc-ACSM5-4 PDILT UMOD | |
| GH16J020384 | Enhancer | 0.6 | Ensembl | 0.3 | -27.0 | -27000 | 0.2 | ZNF143 RXRB IRF2 CTCF RAD21 CTBP1 ZBTB25 MYC TFDP1 RCOR1 | ENSG00000263237 PDILT UMOD lnc-UMOD-1 |
- 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 the GeneHancer Hub at the UCSC Golden Path
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:
-
- 16p12.3 by HGNC
- 16p12.3 by Entrez Gene
- 16p12.3 by Ensembl
UMOD Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene Density
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 Asn38, Asn76, Asn80, Asn232, Asn275, Asn322, Asn396, and Asn513
- NX_P07911 (NX_P07911-1)
- Modification sites at PhosphoSitePlus
-
Glycosylation from GlyConnect
- UROM_HUMAN (613)
Other Protein References for UMOD Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- G Biosciences Immunotag™ UMOD Antibody
-
Custom Antibody ServicesOriGene Antibodies for UMOD
- Novus Biologicals Antibodies for UMOD
- Invitrogen Antibodies for UMOD (AFLGC-Umod)
-
Boster Bio Antibodies 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
-
Signalway Proteins for UMOD
-
Abcam proteins for UMOD
Assay Products
- G Biosciences Immunotag™ Human UMOD (Uromodulin) ELISA and Immunotag™ Uromodulin ELISA Kit
- RayBiotech Human Uromodulin ELISA
-
Custom Assay ServicesOriGene ELISA Kits for UMOD
- Novus Biologicals ELISA Kits for UMOD
-
Boster Bio ELISA Kits for UMOD
-
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
- InterPro:
- Blocks:
-
- Aspartic acid and asparagine hydroxylation site
- EGF-like calcium-binding
- Endoglin/CD105 antigen
- 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
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
- 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
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005201 | extracellular matrix structural constituent | IBA | 21873635 |
| GO:0005509 | calcium ion binding | IEA | -- |
| GO:0019864 | IgG binding | IDA | 20798515 |
Phenotypes for UMOD Gene
- MGI mutant phenotypes for UMOD:
- inferred from 6 alleles
- GenomeRNAi human phenotypes for UMOD:
-
- Increased vaccinia virus (VACV) infection
- no effect
- Decreased viability
- Synthetic lethal with MLN4924 (a NAE inhibitor)
- Increased viability with MLN4924 (a NAE inhibitor)
- Decreased epidermal growth factor (EGF) endocytosis, decreased transferrin (TF) endocytosis
- Increased gamma-H2AX phosphorylation
- Decreased shRNA abundance
- Decreased viability with paclitaxel
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for UMOD - Select products 50% OFF >
- * UMOD CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for UMOD
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for UMOD
-
Santa Cruz Biotechnology (SCBT) CRISPR for UMOD
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for UMOD
- Browse OriGene Inhibitory RNA Products For UMOD
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for UMOD
Clone Products
- Applied Biological Materials (abm): Clones for UMOD - Select products 50% OFF >
- * UMOD as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
- Sino Biological Human cDNA Clone for UMOD
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for UMOD
Cell Line Products
-
Horizon Cell Lines for UMOD
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}.
| Compartment | Confidence |
|---|---|
| plasma membrane | 5 |
| extracellular | 5 |
| cytoskeleton | 5 |
| golgi apparatus | 4 |
| nucleus | 2 |
| endoplasmic reticulum | 2 |
| cytosol | 2 |
| lysosome | 2 |
| mitochondrion | 1 |
| peroxisome | 1 |
| endosome | 1 |
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0000922 | spindle pole | IDA | 20172860 |
| GO:0005576 | extracellular region | IEA | -- |
| GO:0005615 | extracellular space | IBA | 21873635 |
| GO:0005796 | Golgi lumen | TAS | -- |
| GO:0005886 | plasma membrane | IEA | -- |
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
GPS-Prot Interaction Network for UMOD
| 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 |
Transcripts for UMOD Gene
mRNA/cDNA for UMOD Gene
- 8 REFSEQ mRNAs :
- 11 NCBI additional mRNA sequence :
- 13 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
-
- ENST00000302509 2477 nts (view in UCSC)
- ENST00000396134 2408 nts (view in UCSC)
- ENST00000396138 2399 nts (view in UCSC)
- ENST00000570331 663 nts (view in UCSC)
- ENST00000570689 2315 nts (view in UCSC)
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for UMOD - Select products 50% OFF >
- * UMOD CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for UMOD
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for UMOD
-
Santa Cruz Biotechnology (SCBT) CRISPR for UMOD
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for UMOD
- Browse OriGene Inhibitory RNA Products For UMOD
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for UMOD
Clone Products
- Applied Biological Materials (abm): Clones for UMOD - Select products 50% OFF >
- * UMOD as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
- Sino Biological Human cDNA Clone for UMOD
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for UMOD
| 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
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
This gene is overexpressed in Kidney - Cortex (x52.6).
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
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for UMOD
SOURCE GeneReport for Unigene cluster for UMOD Gene:
Hs.654425mRNA 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(3.2)
- Nervous system(2.5)
- Blood(2.3)
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
Primer Products
-
OriGene qPCR primer pairs for UMOD
-
OriGene qPCR primer pairs and template standards for UMOD
Gene Expression Assay 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 30 31 |
|
OneToOne | |
| Cow (Bos Taurus) |
Mammalia | UMOD 30 31 |
|
OneToOne | |
| Dog (Canis familiaris) |
Mammalia | UMOD 30 31 |
|
OneToOne | |
| Mouse (Mus musculus) |
Mammalia | Umod 30 17 31 |
|
OneToOne | |
| Rat (Rattus norvegicus) |
Mammalia | Umod 30 |
|
||
| Platypus (Ornithorhynchus anatinus) |
Mammalia | UMOD 31 |
|
OneToOne | |
| Oppossum (Monodelphis domestica) |
Mammalia | UMOD 31 |
|
OneToOne | |
| Chicken (Gallus gallus) |
Aves | ZPD 31 |
|
OneToMany | |
| Lizard (Anolis carolinensis) |
Reptilia | -- 31 |
|
OneToMany | |
| Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | LOC101731733 30 |
|
||
| Zebrafish (Danio rerio) |
Actinopterygii | BX284640.1 31 |
|
ManyToMany | |
| CABZ01048958.1 31 |
|
ManyToMany | |||
| BX072532.4 31 |
|
ManyToMany | |||
| si:ch73-180n10.1 31 |
|
ManyToMany | |||
| BX072532.1 31 |
|
ManyToMany | |||
| BX072532.2 31 |
|
ManyToMany | |||
| BX005305.7 31 |
|
ManyToMany | |||
| zgc:66449 31 |
|
ManyToMany | |||
| si:dkey-239b22.2 31 |
|
ManyToMany | |||
| si:ch73-338o16.4 31 |
|
ManyToMany | |||
| si:ch211-226h7.5 31 |
|
ManyToMany | |||
| si:dkey-9c18.13 31 |
|
ManyToMany | |||
| si:ch211-226h7.6 31 |
|
ManyToMany | |||
| CABZ01048960.1 31 |
|
ManyToMany | |||
| zgc:153932 31 |
|
ManyToMany | |||
| BX072532.3 31 |
|
ManyToMany | |||
| BX072532.5 31 |
|
ManyToMany | |||
| si:ch211-226h7.2 31 |
|
ManyToMany | |||
| si:ch211-226h7.8 31 |
|
ManyToMany | |||
| si:ch73-181m17.1 31 |
|
ManyToMany | |||
| CABZ01048956.1 31 |
|
ManyToMany | |||
| CABZ01078124.1 31 |
|
ManyToMany | |||
| Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
OneToMany |
- Species where no ortholog for UMOD was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Eremothecium 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 Vase (Ciona intestinalis)
- 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
(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
Variants for UMOD Gene
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 |
|---|---|---|---|---|---|
| 708591 | Benign: not provided | 20,348,968(-) | C/T | SYNONYMOUS_VARIANT | |
| 733025 | Benign: not provided | 20,336,714(-) | G/A | MISSENSE_VARIANT | |
| 733026 | Benign: not provided | 20,341,315(-) | G/C | SYNONYMOUS_VARIANT | |
| 739164 | Likely Benign: not provided | 20,348,932(-) | C/T | SYNONYMOUS_VARIANT | |
| 741314 | Likely Benign: not provided | 20,348,797(-) | G/A | SYNONYMOUS_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 |
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
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for UMOD Gene
Disorders for UMOD Gene
(46) MalaCards diseases for UMOD Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| hyperuricemic nephropathy, familial juvenile, 1 |
|
|
| glomerulocystic kidney disease with hyperuricemia and isosthenuria |
|
|
| medullary cystic kidney disease 2 |
|
|
| hyperuricemia |
|
|
| cystic kidney disease |
|
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
- Open Targets Platform
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 23
- 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
- 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
- Defective intracellular trafficking of uromodulin mutant isoforms. (PMID: 17010121) Bernascone I … Rampoldi L (Traffic (Copenhagen, Denmark) 2006) 3 4 23
- 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
Products for UMOD Gene
- View all 8 R&D Systems UMOD (Uromodulin) Products
- View all 6 R&D Systems UMOD (Uromodulin) Primary Antibodies
- View all R&D Systems UMOD (Uromodulin) ELISAs
- View all R&D Systems UMOD (Uromodulin) Luminex Assays
- Learn more about R&D Systems custom UMOD antibody, protein, and immunoassay development services
- Custom Antibody ServicesOriGene Antibodies for UMOD
- Custom Assay ServicesOriGene ELISA Kits for UMOD
- OriGene Purified Proteins for UMOD
- Search Origene for MassSpec and Protein Over-expression Lysates for UMOD
- Origene Custom Protein Services for UMOD
- Origene shrna, sirna, and RNAi products in human, mouse, rat for UMOD
- Browse OriGene Inhibitory RNA Products For UMOD
- OriGene qPCR primer pairs for UMOD
- OriGene qPCR primer pairs and template standards for UMOD
- OriGene CRISPR knockouts for UMOD
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Browse OriGene miRNA Products For UMOD
- Sino Biological Human cDNA Clone for UMOD
- Browse Sino Biological Recombinant Proteins
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- High-throughput Antibody Production Service
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- Epitope Tag Antibodies & Reporter Protein Antibodies
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- Novus Biologicals proteins and lysates for UMOD
- Novus Biologicals ELISA Kits for UMOD
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- VectorBuilder Custom and pre-made DNA vectors for UMOD (ie. gene expression, shRNA knockdown, CRISPR)
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- VectorBuilder Virus packaging for UMOD CRISPR vectors (ie. lentivirus, AAV, adenovirus)
- VectorBuilder Stable cell line generation for UMOD
- antibodies-online: Show 58 available Uromodulin Antibodies ranked by validation data
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- antibodies-online: Show 69 available Uromodulin Elisa Kits ranked by validation data
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- antibodies-online: Show 23 available Uromodulin Proteins ranked by validation data
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- Santa Cruz Biotechnology (SCBT) Antibodies for UMOD
- Search Santa Cruz Biotechnology (SCBT) for UMOD siRNA/shRNA
- Santa Cruz Biotechnology (SCBT) CRISPR for UMOD
- Horizon Cell Lines for UMOD
- Browse GeneCopoeia Cell Lines
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for UMOD
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for UMOD
- Search GeneCopoeia for miRNA 3'UTR Target clone products for UMOD
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for UMOD
Sources for UMOD Gene
- (1) GeneCards
- (2) HGNC
- (3) NCBI Entrez Gene
- (4) UniProtKB/Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) Cell Signaling Technology
- (12) GO
- (13) UniProtKB/TrEMBL
- (14) InterPro
- (15) ProtoNet
- (16) Blocks
- (17) MGI
- (18) IUBMB
- (19) KEGG
- (20) MINT
- (21) STRING
- (22) IntAct
- (23) Novoseek
- (24) PharmGKB
- (25) DrugBank
- (26) HMDB
- (27) ASD
- (28) SAGE
- (29) SOURCE
- (30) HomoloGene
- (31) PanEnsembl
- (32) euGenes
- (33) SGD
- (34) FlyBase
- (35) WormBase
- (36) Pseudogene
- (37) DGV
- (38) dbSNP
- (39) GenAtlas
- (40) HGMD
- (41) GAD
- (42) BGMUT
- (43) HuGE
- (44) Atlas
- (45) GenBank
- (46) HORDE
- (47) HUGE
- (48) IMGT
- (49) Leiden
- (50) miRBase
- (51) DME
- (52) OriGene
- (53) PubMed
- (54) R&D Systems
- (55) TGDB
- (56) Tocris
- (57) Abcam
- (58) Novus Biologicals
- (59) ProSpec
- (60) Sino Biological
- (61) GenScript
- (62) Qiagen
- (63) OCA
- (64) Proteopedia
- (65) MOPED
- (66) neXtProt
- (67) Reactome
- (68) GeneGo (Thomson Reuters)
- (69) DISEASES
- (70) SIMAP
- (71) GenomeRNAi
- (72) LifeMap
- (73) miRTarBase
- (74) MalaCards
- (75) Invitrogen
- (76) BitterDB
- (77) ESI-BIO
- (78) RefSeq
- (79) BioSystems
- (80) MaxQB
- (81) IUPHAR
- (82) BioGPS
- (83) Illumina
- (84) COMPARTMENTS
- (85) HOMER
- (86) PaxDb
- (87) ApexBio
- (88) Addgene
- (89) antibodies-online
- (90) CYP
- (91) NONCODE
- (92) TreeFam
- (93) PathCards
- (94) GeneReviews
- (95) GeneTex
- (96) Taconic Biosciences
- (97) GTEx
- (98) ProteomicsDB
- (99) SCBT
- (100) DGIdb
- (101) ClinicalTrials
- (102) RVIS
- (103) SIGNOR
- (104) diseasecard
- (105) NIH Rare Diseases
- (106) Orphanet
- (107) UMLS
- (108) GTR
- (109) Disease Ontology
- (110) Genetics Home Reference
- (111) MeSH
- (112) MedlinePlus
- (113) CDC
- (114) NINDS
- (115) NCBI Bookshelf
- (116) ClinVar
- (117) Gene Damage Index
- (118) HPO
- (119) UDN
- (120) VISTA
- (121) FANTOM5
- (122) ENCODE
- (123) ProSci
- (124) Horizon
- (125) The Signaling Pathways Project (SPP)
- (126) IID
- (127) VectorBuilder
- (128) SNPedia
- (129) BRCA Exchange
- (130) CIViC
- (131) ProteoGenix
- (132) dbSUPER
- (133) TISSUES
- (134) Gene ORGANizer
- (135) abm
- (136) Human Protein Atlas
- (137) GWAS Catalog
- (138) Monarch Initiative
- (139) DataMed
- (140) HumanCyc
- (141) UCNEbase
- (142) EPDnew
- (143) Applied Biosystems
- (144) GlyConnect
- (145) Aminode
- (146) GeneCopoeia
- (147) GPS-Prot
- (148) RNACentral
- (149) LncRNADisease
- (150) LOVD
- (151) miR2Disease
- (152) DiseaseEnhancer
- (153) Boster Bio
- (154) Biorbyt
- (155) Biocompare
- (156) Mastermind
- (157) CTD^2 Dashboard
- (158) CraniofacialAtlas
- (159) GeneImprint
- (160) Synthego
- (161) ENA
- (162) GtRNAdb
- (163) LncBase
- (164) LncBook
- (165) LNCipedia
- (166) Modomics
- (167) PDBe
- (168) Rfam
- (169) SILVA
- (170) snOPY
- (171) SRPDB
- (172) GENCODE
- (173) TarBase
- (174) Signalway Antibody
- (175) Open Targets Platform
- (176) 5SRRNADB
- (177) snoDB
- (178) MirGeneDB