Entity Details

Primary name UMOD
Entity type gene
Source Source Link

Details

PrimaryID7369
RefseqGeneNG_008151
SymbolUMOD
Nameuromodulin
Chromosome16
Location16p12.3
TaxID9606
Statuslive
SourceGenomegenomic
SourceOriginnatural
CreationDate1992-12-08
ModificationDate2021-06-11

Ontological Relatives

UniProt IDsUROM_HUMAN

GO terms

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GOName
GO:0000255 allantoin metabolic process
GO:0000922 spindle pole
GO:0002251 organ or tissue specific immune response
GO:0003091 renal water homeostasis
GO:0003094 glomerular filtration
GO:0005201 extracellular matrix structural constituent
GO:0005509 calcium ion binding
GO:0005615 extracellular space
GO:0005783 endoplasmic reticulum
GO:0005796 Golgi lumen
GO:0005929 cilium
GO:0006629 lipid metabolic process
GO:0006874 cellular calcium ion homeostasis
GO:0006883 cellular sodium ion homeostasis
GO:0006914 autophagy
GO:0006954 inflammatory response
GO:0006968 cellular defense response
GO:0007029 endoplasmic reticulum organization
GO:0007157 heterophilic cell-cell adhesion via plasma membrane cell adhesion molecules
GO:0007159 leukocyte cell-cell adhesion
GO:0008285 negative regulation of cell population proliferation
GO:0008380 RNA splicing
GO:0009414 response to water deprivation
GO:0009986 cell surface
GO:0016323 basolateral plasma membrane
GO:0016324 apical plasma membrane
GO:0018107 peptidyl-threonine phosphorylation
GO:0019628 urate catabolic process
GO:0019864 IgG binding
GO:0019898 extrinsic component of membrane
GO:0030433 ubiquitin-dependent ERAD pathway
GO:0030643 cellular phosphate ion homeostasis
GO:0030644 cellular chloride ion homeostasis
GO:0031225 anchored component of membrane
GO:0032496 response to lipopolysaccharide
GO:0033209 tumor necrosis factor-mediated signaling pathway
GO:0033555 multicellular organismal response to stress
GO:0034620 cellular response to unfolded protein
GO:0035809 regulation of urine volume
GO:0042493 response to drug
GO:0044861 protein transport into plasma membrane raft
GO:0046720 citric acid secretion
GO:0050829 defense response to Gram-negative bacterium
GO:0051223 regulation of protein transport
GO:0055075 potassium ion homeostasis
GO:0060073 micturition
GO:0060170 ciliary membrane
GO:0061077 chaperone-mediated protein folding
GO:0070062 extracellular exosome
GO:0070294 renal sodium ion absorption
GO:0072044 collecting duct development
GO:0072051 juxtaglomerular apparatus development
GO:0072218 metanephric ascending thin limb development
GO:0072221 metanephric distal convoluted tubule development
GO:0072233 metanephric thick ascending limb development
GO:0072665 protein localization to vacuole
GO:0097190 apoptotic signaling pathway
GO:0097273 creatinine homeostasis
GO:0097709 connective tissue replacement
GO:0097744 urate salt excretion
GO:1990266 neutrophil migration

Diseases

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Disease IDSourceNameDescription
603860 OMIMMedullary cystic kidney disease 2 (MCKD2)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. The disease is caused by variants affecting the gene represented in this entry.
162000 OMIMFamilial juvenile hyperuricemic nephropathy 1 (HNFJ1)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. The disease is caused by variants affecting the gene represented in this entry.
609886 OMIMGlomerulocystic kidney disease with hyperuricemia and isosthenuria (GCKDHI)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. The disease is caused by variants affecting the gene represented in this entry.

Interactions

9 interactions