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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 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]
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.
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 |
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 |
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 | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Metabolism of proteins | ||
2 | Transport to the Golgi and subsequent modification |
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 |
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: |
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 |
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 |
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 |
|