UMOD

Summary

UMOD (uromodulin, HGNC:12559) is a protein-coding gene on chromosome 16p12.3, encoding Uromodulin (P07911). 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.

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.

Source: NCBI Gene 7369 — RefSeq curated summary.

At a glance

• Gene–disease (curated): autosomal dominant medullary cystic kidney disease with or without hyperuricemia (Definitive, ClinGen) — +3 more curated relationships
• GWAS associations: 47
• Clinical variants (ClinVar): 624 total — 32 pathogenic, 67 likely-pathogenic
• Phenotypes (HPO): 40
• MANE Select transcript: NM_003361

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:12559
Approved symbol	UMOD
Name	uromodulin
Location	16p12.3
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000169344
Ensembl biotype	protein_coding
OMIM	191845
Entrez	7369

Gene structure

Transcript identifiers

Ensembl transcripts: 36 — 35 protein_coding, 1 protein_coding_CDS_not_defined

ENST00000396134, ENST00000396138, ENST00000570331, ENST00000570689, ENST00000570757, ENST00000570972, ENST00000571174, ENST00000573567, ENST00000574195, ENST00000576546, ENST00000576688, ENST00000577168, ENST00000863071, ENST00000863072, ENST00000863073, ENST00000863074, ENST00000863075, ENST00000863076, ENST00000863077, ENST00000863078, ENST00000863079, ENST00000863080, ENST00000863081, ENST00000863082, ENST00000863083, ENST00000863084, ENST00000863085, ENST00000863086, ENST00000863087, ENST00000863088, ENST00000863089, ENST00000863090, ENST00000863091, ENST00000863092, ENST00000863093, ENST00000863094

RefSeq mRNA: 7 — MANE Select: NM_003361 NM_001008389, NM_001278614, NM_001378232, NM_001378233, NM_001378234, NM_001378235, NM_003361

CCDS: CCDS10583, CCDS61876

Canonical transcript exons

ENST00000396138 — 11 exons

Exon	Start	End
ENSE00001143280	20346126	20346334
ENSE00001143289	20348223	20348330
ENSE00001143298	20348436	20349212
ENSE00001262928	20344024	20344172
ENSE00001524049	20352689	20352715
ENSE00003492363	20335482	20335520
ENSE00003515611	20341091	20341336
ENSE00003533927	20350650	20350839
ENSE00003554242	20336646	20336727
ENSE00003625995	20337291	20337453
ENSE00003911769	20333051	20333375

Expression profiles

Bgee: expression breadth ubiquitous, 104 present calls, max score 99.98.

FANTOM5 (CAGE): breadth tissue_specific, TPM avg 0.4303 / max 368.1685, expressed in 5 samples.

FANTOM5 promoters (6 alternative TSS)

Promoter ID	TPM avg	Samples expressed
156685	0.3685	5
156682	0.0365	5
156684	0.0088	3
156687	0.0078	3
156683	0.0050	3
156686	0.0037	3

Top tissues by expression

276 total, by Bgee expression score (0-100, higher = more expressed):

Tissue	Anatomy ID	Expression score	Quality
renal medulla	UBERON:0000362	99.98	gold quality
adult organism	UBERON:0007023	99.85	gold quality
adult mammalian kidney	UBERON:0000082	99.51	gold quality
metanephros cortex	UBERON:0010533	99.43	gold quality
nephron tubule	UBERON:0001231	99.23	gold quality
kidney epithelium	UBERON:0004819	98.16	gold quality
metanephric glomerulus	UBERON:0004736	97.00	gold quality
renal glomerulus	UBERON:0000074	96.80	gold quality
kidney	UBERON:0002113	95.88	gold quality
cortex of kidney	UBERON:0001225	91.79	gold quality
metanephros	UBERON:0000081	90.73	gold quality
body of pancreas	UBERON:0001150	75.90	gold quality
colonic epithelium	UBERON:0000397	71.43	gold quality
endothelial cell	CL:0000115	66.86	gold quality
pancreas	UBERON:0001264	62.58	gold quality
cervix squamous epithelium	UBERON:0006922	60.38	gold quality
urethra	UBERON:0000057	60.25	gold quality
endometrium epithelium	UBERON:0004811	58.82	gold quality
skeletal muscle tissue of biceps brachii	UBERON:0004502	58.58	gold quality
cerebellar vermis	UBERON:0004720	57.64	gold quality
sperm	CL:0000019	57.59	gold quality
male germ cell	CL:0000015	57.21	gold quality
thymus	UBERON:0002370	56.20	gold quality
penis	UBERON:0000989	55.20	gold quality
parotid gland	UBERON:0001831	55.08	gold quality
saphenous vein	UBERON:0007318	54.90	gold quality
pericardium	UBERON:0002407	54.85	gold quality
inferior vagus X ganglion	UBERON:0005363	54.72	gold quality
dorsal root ganglion	UBERON:0000044	54.67	gold quality
trachea	UBERON:0003126	54.52	gold quality

Single-cell (SCXA)

Detected in 4 experiment(s), a significant marker in 3.

Experiment	Marker?	Max mean expression
E-GEOD-131882	yes	3177.69
E-CURD-119	yes	2084.77
E-ANND-3	yes	4.08
E-CURD-135	no	2262.39

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): HNF1B

miRNA regulators (miRDB)

23 targeting UMOD, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):

miRNA	Max score	Avg score	miRNA target_count
HSA-MIR-3064-3P	100.00	70.09	1254
HSA-MIR-548C-3P	99.99	74.01	7587
HSA-MIR-103A-3P	99.98	69.14	1595
HSA-MIR-107	99.98	69.14	1595
HSA-MIR-497-5P	99.92	71.83	2674
HSA-MIR-627-3P	99.90	71.42	3316
HSA-MIR-15A-5P	99.90	72.80	2787
HSA-MIR-15B-5P	99.90	72.78	2798
HSA-MIR-16-5P	99.90	72.80	2780
HSA-MIR-195-5P	99.90	72.81	2805
HSA-MIR-6838-5P	99.89	71.94	2690
HSA-MIR-424-5P	99.89	71.90	2641
HSA-MIR-4428	99.73	66.41	1733
HSA-MIR-4310	99.59	68.84	2527
HSA-MIR-4477B	99.23	70.49	1733
HSA-MIR-4478	99.07	65.16	2320
HSA-MIR-3619-5P	99.00	68.87	2308
HSA-MIR-6760-5P	98.87	66.73	1515
HSA-MIR-214-3P	98.71	68.12	2128
HSA-MIR-761	98.71	68.07	2051
HSA-MIR-6878-5P	98.49	67.91	2142
HSA-MIR-8055	97.62	66.09	1023
HSA-MIR-196B-3P	85.79	67.95	91

Literature-anchored findings (GeneRIF, showing 40)

• We identified a silent polymorphism in the UMOD gene at codon C174 which co-segregates with autosomal dominant medullary cystic kidney disease in the ADMCKD2 family. (PMID:11730273)
• binds to virulent Bordetella pertussis and reduces its adherence to both renal and pulmonary epithelial cells (PMID:11932463)
• Uromodulin promoter directs high-level expression of biologically active human alpha1-antitrypsin into mouse urine. (PMID:11982485)
• Mutations of the UMOD gene are responsible for medullary cystic kidney disease 2 and familial juvenile hyperuricaemic nephropathy (PMID:12471200)
• the effects of Tamm-Horsfall protein on the protection of oxalate induced radical injury may be partly due to its intact glycosylation and its adhesion to the cell membrane. (PMID:12624657)
• Two genes predisposing to dominant MCKD, MCKD1 and MCKD2, have been localized to chromosome 1q21 and 16p12. Review. (PMID:12832729)
• specific role of exon 4 encoded sequence of UMOD in the generation of the medullary cystic kidney disease type 2 renal phenotype. (PMID:14531790)
• this study points to a mutation clustering in exon 4 of UMOD as a major genetic defect in familial juvenile hyperuricemic nephropathy. (PMID:14569098)
• Species variations of the glycomoiety of THP can lead to the differential binding of THP to type 1-fimbriated E. coli. (PMID:14570881)
• degree of conversion of the tetrasaccharidic Sd(a) precursor into the final pentasaccharidic Sd(a) form can be considered to result from a very closely related pattern of glycosylation for genetically homogeneous individuals (PMID:15033942)
• evidence for the mutation of the UMOD gene in the majority of Japanese families with familial juvenile hyperuricemic nephropathy (PMID:15086896)
• individuals with two UMOD mutations are viable, but they do have more severe disease on average than heterozygotes. (PMID:15253706)
• Tamm-Horsfall protein has immunomodulatory role on polymorphpolymorphonuclear leukocyte functions(apoptosis,chemotaxis,phagocytosis). (PMID:15266028)
• the autosomal-dominant gene mutations responsible for UMOD-associated kidney disease cause a profound reduction of THP excretion. (PMID:15327389)
• Excretion of uromodulin is reduced in familial juvenile hyperuricaemic nephropathy. (PMID:15575003)
• D8C, a novel domain present in UMOD, mutates in familial juvenile hyperuricemia. (PMID:15589826)
• Tamm-Horsfall protein in a 16-month-old girl with surgical resection of a nephroblastoma after pre-operative chemotherapy (PMID:15785410)
• A novel mutation (Gln316Pro) was found in exon 5. There is provide additional evidence for the existence of a fourth calcium-binding epidermal growth factor-like domain in the structure of Tamm-Horsfall protein. (PMID:15983957)
• We identified a new candidate uromodulin-associated kidney disease locus on chromosome 1q41 (PMID:16164624)
• 12 different uromodulin missense mutations were found to lead to defective endoplasmic reticulum to Golgi protein transport, suggesting a common pathogenetic mechanism in medullary cystic kidney disease and familial juvenile hyperuricemic nephropathy. (PMID:17010121)
• a mutation in UMOD gene may lead to familial nephropathy associated with hyperuricemia (PMID:17065110)
• there are different urinary and plasma mutant uromodulin profiles in early and late familial juvenile hyperuricemic nephropathy (PMID:17151335)
• Haplotype analysis showed cosegragation with the phenotype in all eight affected individuals indicating that the uromodulin C744G mutation may be due to a founder effect. (PMID:17245395)
• Tamm-Horsfall glycoprotein from renal transplant patients is not only modified in glycosylation but bears an apoptosis-inducing capacity on mononuclear cells and polymorphonuclear neutrophils, leading to an impaired immune function in patients. (PMID:18047931)
• Intact protein core structure of Tamm-Horsfall glycoprotein, but not carbohydrate side-chains, is essential for protein-binding and cell-stimulating activities of the molecule. (PMID:18068104)
• Assessed tubular function in diabetic children by measuring Tamm-Horsfall protein and glutathione S-transferase levels in urine. (PMID:18351395)
• Urinary uromodulin is generated by a conserved C-terminal proteolytic cleavage and retains its entire ZP domain. (PMID:18375198)
• mutations in its gene as a cause of familial juvenile hyperuricemic nephropathy (PMID:18409515)
• Mutant uromodulin causes uricemic underexcretion and hyperuricemia (PMID:18409531)
• patients with interstitial cystitis(IC)with decreased uromodulin and kininogen had worsening IC severity.Uromodulin and kininogen were significantly less present in the urine of the IC group vs the AC group. (PMID:18455532)
• Phenotypes of transgenic mice harboring mutant human UMOD gene (PMID:18600511)
• UMOD is a potential biochemical marker of therapeutic response of the kidney to therapy in Fabry disease. (PMID:18651238)
• The finding that LZP might act as a new partner of THP would provide novel insights into renal functions related to THP and LZP, such as the urothelial permeability barrier and the host defense against the adhesion of pathogens. (PMID:18830570)
• UMOD mutations do not seem to be a significant cause of congenital anomalies of the kidney and uninary tract in this cohort. (PMID:18846391)
• This novel UMOD sequence variant, which is associated with an immunohistochemical pattern different from previous reports and a histological picture characterized by immature renal structures, suggests a possible role for UMOD in renal development (PMID:18950917)
• genetic analysis of novel D196Y mutation in UMOD gene in family cohort with familial juvenile hyperuricemic nephropathy age-related protein excretion levels (PMID:19203555)
• Familial juvenile hyperuricaemic nephropathy-causing uromodulin mutants are impaired in protein maturation and trafficking. (PMID:19465746)
• Elevated uromodulin concentrations precede the onset of chronic kidney disease and associate with a common polymorphism in the UMOD region. (PMID:19959715)
• The combined analysis of serum and urinary uromodulin provides new insights into the role of uromodulin in chronic kidney disease (CKD) and suggests that uromodulin may be an active player in CKD progression. (PMID:20075439)
• While renal functional decline is slow in individuals with UMOD mutations, it may appear early in life and be associated with marked hyperuricemia. (PMID:20151160)

Cross-species orthologs

2 orthologs

Organism	Symbol	Gene ID
mus_musculus	Umod	ENSMUSG00000030963
rattus_norvegicus	Umod	ENSRNOG00000015557

Paralogs (5): TECTB (ENSG00000119913), OIT3 (ENSG00000138315), GP2 (ENSG00000169347), ZPLD1 (ENSG00000170044), UMODL1 (ENSG00000177398)

Protein

Protein identifiers

Uromodulin — P07911 (reviewed: P07911)

Alternative names: Tamm-Horsfall urinary glycoprotein

All UniProt accessions (10): P07911, I3L1M3, I3L2J2, I3L2K2, I3L3E0, I3L3Z4, I3L4B0, I3L4Y6, Q8NHW8, X6RBG4

UniProt curated annotations — full annotation on UniProt →

Function. 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. May serve as a receptor for binding and endocytosis of cytokines (IL-1, IL-2) and TNF. Facilitates neutrophil migration across renal epithelia. In the urine, may contribute to colloid osmotic pressure, retards passage of positively charged electrolytes, and inhibits formation of liquid containing supersaturated salts and subsequent formation of salt crystals. Protects against urinary tract infections by binding to type 1 fimbriated E.coli. Binds to bacterial adhesin fimH which mediates the stable formation of bacterial aggregates, prevents the binding of E.coli to uroplakins UPK1A and UPK1B which act as urothelial receptors for type I fimbriae, and allows for pathogen clearance through micturation. Also promotes aggregation of other bacteria including K.pneumoniae, P.aeruginosa and S.mitis and so may also protect against other uropathogens.

Subunit / interactions. Homodimer that then polymerizes into long filaments. The filaments can additionally assemble laterally to form a sheet. The filaments consist of a zigzag-shaped backbone with laterally protruding arms which interact with bacterial adhesin fimH. Two fimH molecules can bind to a single UMOD monomer.

Subcellular location. Apical cell membrane. Basolateral cell membrane. Cell projection. Cilium membrane Secreted.

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.

Post-translational modifications. 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). Glycosylated Asn-232 interacts with E.coli adhesin fimH. Other complex glycosylation sites may serve as binding sites for proteins from other bacteria inclduding K.pneumoniae, P.aeruginosa and S.mitis. Proteolytically cleaved at a conserved C-terminal proteolytic cleavage site to generate the secreted form found in urine. This cleavage is catalyzed by HPN.

Disease relevance. Tubulointerstitial kidney disease, autosomal dominant 1 (ADTKD1) [MIM:162000] A form of autosomal dominant tubulointerstitial kidney disease, a genetically heterogeneous disorder characterized by slowly progressive loss of kidney function, bland urinary sediment, hyperuricemia, absent or mildly increased albuminuria, lack of severe hypertension during the early stages, and normal or small kidneys on ultrasound. Renal histology shows variable abnormalities including interstitial fibrosis with tubular atrophy, microcystic dilatation of the tubules, thickening of tubular basement membranes, medullary cysts, and secondary glomerulosclerotic or glomerulocystic changes with abnormal glomerular tufting. There is significant variability, as well as incomplete penetrance. The disease is caused by variants affecting the gene represented in this entry.

Domain organisation. The ZP domain mediates polymerization, leading to the formation of long filaments. The core of the filament consists of interlocked ZP domains which assemble into a helical structure. Each ZP domain consists of an N-terminal (ZP-N) and C-terminal (ZP-C) region connected by a flexible linker; the linker allows the ZP domain to wrap around the ZP-C subdomain of the preceding subunit. The heavily glycosylated N-terminal part of the protein (containing several EGF-like domains) forms branches which protrude from the core and are involved in pathogen capture.

Isoforms (5)

UniProt ID	Names	Canonical?
P07911-1	1	yes
P07911-2	2
P07911-3	3
P07911-4	4
P07911-5	5

RefSeq proteins (7): NP_001008390, NP_001265543, NP_001365161, NP_001365162, NP_001365163, NP_001365164, NP_003352* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR000152	EGF-type_Asp/Asn_hydroxyl_site	PTM
IPR000742	EGF	Domain
IPR001507	ZP_dom	Domain
IPR001881	EGF-like_Ca-bd_dom	Domain
IPR009030	Growth_fac_rcpt_cys_sf	Homologous_superfamily
IPR017977	ZP_dom_CS	Conserved_site
IPR018097	EGF_Ca-bd_CS	Conserved_site
IPR024731	NELL2-like_EGF	Domain
IPR042235	ZP-C_dom	Homologous_superfamily
IPR048290	ZP_chr	Domain
IPR049883	NOTCH1_EGF-like	Domain
IPR055355	ZP-C	Domain
IPR055356	ZP-N	Domain
IPR057774	D8C_UMOD/GP2/OIT3-like	Domain

Pfam: PF00100, PF07645, PF12947, PF23283, PF23344

UniProt features (147 total): sequence variant 40, strand 24, disulfide bond 24, mutagenesis site 11, glycosylation site 9, helix 8, region of interest 7, domain 6, turn 5, splice variant 4, sequence conflict 3, chain 2, signal peptide 1, site 1, lipid moiety-binding region 1, propeptide 1

Structure

Experimental structures (PDB)

10 structures.

PDB	Method	Resolution (Å)
4WRN	X-RAY DIFFRACTION	3.2
6TQK	ELECTRON MICROSCOPY	3.35
6ZS5	ELECTRON MICROSCOPY	3.5
6ZYA	ELECTRON MICROSCOPY	3.5
9NU1	ELECTRON MICROSCOPY	3.6
6TQL	ELECTRON MICROSCOPY	3.96
9NU2	ELECTRON MICROSCOPY	4.8
9NU3	ELECTRON MICROSCOPY	5
7PFP	ELECTRON MICROSCOPY	6.1
7Q3N	ELECTRON MICROSCOPY	7.4

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-P07911-F1	83.00	0.50

Functional residue map

Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.

Catalytic / active sites (1): 587–588 (cleavage)

Post-translational modifications (1): 614

Disulfide bonds (24): 32–41, 35–50, 52–63, 69–83, 77–92, 94–106, 112–126, 120–135, 137–148, 150–161, 155–170, 174–267, 195–282, 217–255, 223–287, 248–256, 297–306, 300–315, 317–347, 335–425 …

Glycosylation sites (9): 38, 76, 80, 232, 275, 322, 396, 513, 513

Mutagenesis-validated functional residues (11):

Position	Phenotype
435	impairs polymerization and filament formation of the secreted form.
458	leads to retention in the endoplasmic reticulum, probably due to misfolding.
555–556	abolishes polymerization, in a dominant-negative manner. no effect on protein trafficking or secretion. suppresses the d
586–589	abolishes cleavage by hpn. abolishes polymerization, in a dominant-negative manner. suppresses the dominant-negative los
598–600	decreased export from the endoplasmic reticulum, leading to decreased secretion. impairs polymerization.
602–603	decreased export from the endoplasmic reticulum, leading to decreased secretion. impairs polymerization.
605–607	no effect on secretion. does not impair polymerization.
333	abolishes polymerization and filament formation of the secreted form.
415	abolishes polymerization. no effect on protein trafficking or secretion. suppresses the dominant-negative loss of polyme
421	abolishes polymerization and filament formation of the secreted form.
430	impairs polymerization and filament formation of the secreted form.

Function

Pathways and Gene Ontology

Reactome pathways

1 pathways

ID	Pathway
R-HSA-446203	Asparagine N-linked glycosylation

MSigDB gene sets: 298 (showing top): GOBP_EXCRETION, GOBP_RESPONSE_TO_NITROGEN_COMPOUND, GOBP_EPITHELIUM_DEVELOPMENT, GOBP_ACID_SECRETION, GOBP_HETEROPHILIC_CELL_CELL_ADHESION, GOBP_REGULATION_OF_BLOOD_PRESSURE, GOBP_METANEPHROS_DEVELOPMENT, GOBP_MYELOID_LEUKOCYTE_MIGRATION, GOBP_CIRCULATORY_SYSTEM_PROCESS, GOBP_INTRACELLULAR_PROTEIN_TRANSPORT, GOBP_RESPONSE_TO_ACID_CHEMICAL, GOBP_INFLAMMATORY_RESPONSE, GOBP_RESPONSE_TO_PEPTIDE, GOBP_METANEPHRIC_EPITHELIUM_DEVELOPMENT, GOBP_LOOP_OF_HENLE_DEVELOPMENT

GO Biological Process (64): organ or tissue specific immune response (GO:0002251), renal water homeostasis (GO:0003091), glomerular filtration (GO:0003094), protein folding (GO:0006457), lipid metabolic process (GO:0006629), intracellular calcium ion homeostasis (GO:0006874), intracellular sodium ion homeostasis (GO:0006883), autophagy (GO:0006914), inflammatory response (GO:0006954), cellular defense response (GO:0006968), endoplasmic reticulum organization (GO:0007029), heterophilic cell-cell adhesion (GO:0007157), leukocyte cell-cell adhesion (GO:0007159), regulation of blood pressure (GO:0008217), negative regulation of cell population proliferation (GO:0008285), RNA splicing (GO:0008380), response to xenobiotic stimulus (GO:0009410), response to water deprivation (GO:0009414), gene expression (GO:0010467), urate transport (GO:0015747), intracellular phosphate ion homeostasis (GO:0030643), intracellular chloride ion homeostasis (GO:0030644), response to lipopolysaccharide (GO:0032496), tumor necrosis factor-mediated signaling pathway (GO:0033209), multicellular organismal response to stress (GO:0033555), cellular response to unfolded protein (GO:0034620), regulation of urine volume (GO:0035809), ERAD pathway (GO:0036503), protein transport into plasma membrane raft (GO:0044861), citric acid secretion (GO:0046720), defense response to Gram-negative bacterium (GO:0050829), regulation of protein transport (GO:0051223), potassium ion homeostasis (GO:0055075), micturition (GO:0060073), renal sodium ion absorption (GO:0070294), protein localization to extracellular region (GO:0071692), urea transmembrane transport (GO:0071918), collecting duct development (GO:0072044), juxtaglomerular apparatus development (GO:0072051), metanephric ascending thin limb development (GO:0072218)

GO Molecular Function (3): calcium ion binding (GO:0005509), IgG binding (GO:0019864), protein binding (GO:0005515)

GO Cellular Component (16): spindle pole (GO:0000922), obsolete extracellular space (GO:0005615), endoplasmic reticulum (GO:0005783), Golgi lumen (GO:0005796), cilium (GO:0005929), cell surface (GO:0009986), membrane (GO:0016020), basolateral plasma membrane (GO:0016323), apical plasma membrane (GO:0016324), extrinsic component of membrane (GO:0019898), ciliary membrane (GO:0060170), extracellular exosome (GO:0070062), side of membrane (GO:0098552), extracellular region (GO:0005576), plasma membrane (GO:0005886), cell projection (GO:0042995)

Reactome top-level categories

Rollup of top-1 pathways:

Category	Pathways
Post-translational protein modification	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	7
membrane	3
intracellular monoatomic cation homeostasis	2
defense response	2
cell-cell adhesion	2
plasma membrane region	2
immune response	1
renal system process	1
multicellular organismal-level water homeostasis	1
renal filtration	1
cellular process	1
protein maturation	1
primary metabolic process	1
calcium ion homeostasis	1
sodium ion homeostasis	1
catabolic process	1
transmembrane transport	1
process utilizing autophagic mechanism	1
organelle organization	1
endomembrane system organization	1
blood circulation	1
regulation of biological quality	1
cell population proliferation	1
regulation of cell population proliferation	1
negative regulation of cellular process	1
RNA processing	1
response to chemical	1
response to stress	1
response to water	1
macromolecule biosynthetic process	1
nitrogen compound transport	1
metal ion binding	1
immunoglobulin binding	1
binding	1
spindle	1
cytoplasm	1
endomembrane system	1
intracellular membrane-bounded organelle	1
Golgi apparatus	1
intracellular organelle lumen	1

Protein interactions and networks

STRING

2056 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
UMOD	IL1B	P01584	848
UMOD	PKHD1	P08F94	844
UMOD	ALB	P02768	807
UMOD	HNF1B	P35680	802
UMOD	SPP1	P10451	796
UMOD	IL2	P01585	781
UMOD	MUC1	P13931	717
UMOD	REN	P00797	713
UMOD	SLC12A1	Q13621	709
UMOD	AMBP	P00977	708
UMOD	AQP2	P41181	695
UMOD	TNF	P01375	691
UMOD	NPHP1	O15259	671
UMOD	IL1A	P01583	643
UMOD	HAVCR1	Q96D42	643

IntAct

21 interactions, top by confidence:

A	B	Type	Score
COLEC11	UMOD	psi-mi:“MI:0407”(direct interaction)	0.560
MBL2	UMOD	psi-mi:“MI:0407”(direct interaction)	0.440
FCN1	UMOD	psi-mi:“MI:0407”(direct interaction)	0.440
FCN2	UMOD	psi-mi:“MI:0407”(direct interaction)	0.440
FCN3	UMOD	psi-mi:“MI:0407”(direct interaction)	0.440
	UMOD	psi-mi:“MI:0407”(direct interaction)	0.440
UMOD		psi-mi:“MI:0407”(direct interaction)	0.440
dsa-b	UMOD	psi-mi:“MI:0407”(direct interaction)	0.440
LGALS1	UMOD	psi-mi:“MI:0407”(direct interaction)	0.440
LGALS2	UMOD	psi-mi:“MI:0407”(direct interaction)	0.440
LGALS3	UMOD	psi-mi:“MI:0407”(direct interaction)	0.440
MAL	UMOD	psi-mi:“MI:0407”(direct interaction)	0.440
MLEC	UMOD	psi-mi:“MI:0407”(direct interaction)	0.440
DLEC2	UMOD	psi-mi:“MI:0407”(direct interaction)	0.440
psl1a	UMOD	psi-mi:“MI:0407”(direct interaction)	0.440
	UMOD	psi-mi:“MI:0915”(physical association)	0.000
UMOD		psi-mi:“MI:0915”(physical association)	0.000

BioGRID (7): UMOD (Affinity Capture-MS), UMOD (Protein-RNA), UMOD (Affinity Capture-RNA), UMOD (Reconstituted Complex), UMOD (Synthetic Lethality), UMOD (Affinity Capture-MS), UMOD (Two-hybrid)

ESM2 similar proteins: A0JPF9, A2VE29, A6QPN6, A8T658, B3SP85, E7E2N8, F1QVU0, H2N4I1, O00391, O08841, O95479, P06802, P07911, P13284, P20062, P23276, P48733, P55104, P56201, P59996, Q13219, Q16549, Q499T2, Q4R7M2, Q5R5C1, Q5REL7, Q5RER0, Q5RJG7, Q5U2X4, Q5XWD5, Q62849, Q6IUU3, Q6P6S4, Q80W65, Q86UX2, Q8BND5, Q8CFX1, Q8NCG5, Q92179, Q924C3

Diamond homologs: A1Z877, B5DFC9, H9JIQ1, O08523, O75443, O88322, P07911, P10493, P19218, P25291, P27590, P34501, P41950, P48733, P55259, Q0KHY3, Q14112, Q28833, Q3U492, Q5R5C1, Q5ZQU0, Q6ZWJ8, Q70E20, Q862Z3, Q8CJ69, Q8TER0, Q91X17, Q9D733, Q9IBG7, Q9Y6R7, Q9YH85, P02845, Q8N8U9, Q66IR0, Q6DFV8, Q8N2E2, O08524, Q8R4V5, Q96PL2, Q5DID0

SIGNOR signaling

1 interactions.

A	Effect	B	Mechanism
HNF1B	“up-regulates quantity by expression”	UMOD	“transcriptional regulation”

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 13 IntAct physical interaction partners (hypergeometric vs the genome-wide background, BH-FDR, gene-set size 15–500, ranked by fold). A functional readout of the neighbourhood — distinct from this gene’s own memberships above, and biased toward well-studied / hub proteins, so read it as themes rather than proof.

Reactome pathways:

Pathway	Partners	Fold	FDR
Initial triggering of complement	5	300.5×	4e-11

Disease & clinical

Clinical variants and AI predictions

ClinVar

624 variants total. Per-class counts are floors (≥ shown; pagination cap):

Classification	Count (floor)
Pathogenic	32
Likely pathogenic	67
Uncertain significance	306
Likely benign	108
Benign	36

Top pathogenic / likely-pathogenic (30)

Variant ID	HGVS	Classification
1184610	NM_003361.4(UMOD):c.281G>C (p.Cys94Ser)	Pathogenic
12254	NM_003361.4(UMOD):c.529_555del (p.His177_Arg185del)	Pathogenic
12255	NM_003361.4(UMOD):c.443G>A (p.Cys148Tyr)	Pathogenic
12256	NM_003361.4(UMOD):c.649T>C (p.Cys217Arg)	Pathogenic
12258	NM_003361.4(UMOD):c.230G>A (p.Cys77Tyr)	Pathogenic
12259	NM_003361.4(UMOD):c.376T>C (p.Cys126Arg)	Pathogenic
12260	NM_003361.4(UMOD):c.383A>G (p.Asn128Ser)	Pathogenic
12261	NM_003361.4(UMOD):c.764G>A (p.Cys255Tyr)	Pathogenic
12262	NM_003361.4(UMOD):c.898T>G (p.Cys300Gly)	Pathogenic
12263	NM_003361.4(UMOD):c.943T>C (p.Cys315Arg)	Pathogenic
1312491	NM_003361.4(UMOD):c.335G>A (p.Cys112Tyr)	Pathogenic
1458183	NM_003361.4(UMOD):c.229T>C (p.Cys77Arg)	Pathogenic
242346	NM_003361.4(UMOD):c.278_289delinsCCGCCTCCT (p.Val93_Gly97delinsAlaAlaSerCys)	Pathogenic
2443293	NM_003361.4(UMOD):c.276C>G (p.Cys92Trp)	Pathogenic
2499669	NM_003361.4(UMOD):c.93G>C (p.Trp31Cys)	Pathogenic
2499670	NM_003361.4(UMOD):c.106C>T (p.His36Tyr)	Pathogenic
2736325	NM_003361.4(UMOD):c.674C>T (p.Thr225Met)	Pathogenic
2736326	NM_003361.4(UMOD):c.554G>A (p.Arg185His)	Pathogenic
287876	NM_003361.4(UMOD):c.744C>G (p.Cys248Trp)	Pathogenic
3578739	NM_003361.4(UMOD):c.860G>A (p.Cys287Tyr)	Pathogenic
3647283	NM_003361.4(UMOD):c.552G>T (p.Trp184Cys)	Pathogenic
370029	NM_003361.4(UMOD):c.490G>T (p.Glu164Ter)	Pathogenic
39418	NM_003361.4(UMOD):c.649T>G (p.Cys217Gly)	Pathogenic
4813580	NM_003361.4(UMOD):c.163G>A (p.Gly55Ser)	Pathogenic
488632	NM_003361.4(UMOD):c.358T>G (p.Cys120Gly)	Pathogenic
586922	NM_003361.4(UMOD):c.553C>T (p.Arg185Cys)	Pathogenic
64644	NM_003361.4(UMOD):c.743G>C (p.Cys248Ser)	Pathogenic
803225	NM_003361.4(UMOD):c.890G>A (p.Cys297Tyr)	Pathogenic
807520	NM_003361.4(UMOD):c.651C>G (p.Cys217Trp)	Pathogenic
94133	NM_003361.4(UMOD):c.944G>A (p.Cys315Tyr)	Pathogenic

SpliceAI

1445 predictions. Top by Δscore:

Variant	Effect	Δscore
16:20338059:T:A	donor_gain	1.0000
16:20341085:CCTTA:C	donor_loss	1.0000
16:20341088:TACCT:T	donor_loss	1.0000
16:20341089:A:T	donor_loss	1.0000
16:20341090:C:CA	donor_loss	1.0000
16:20341335:CA:C	acceptor_gain	1.0000
16:20341337:C:CC	acceptor_gain	1.0000
16:20341341:C:CT	acceptor_gain	1.0000
16:20346224:TCAGG:T	donor_gain	1.0000
16:20349208:CCATC:C	acceptor_gain	1.0000
16:20349209:CATC:C	acceptor_gain	1.0000
16:20349209:CATCC:C	acceptor_gain	1.0000
16:20349210:ATC:A	acceptor_gain	1.0000
16:20349210:ATCC:A	acceptor_loss	1.0000
16:20349211:TC:T	acceptor_gain	1.0000
16:20349212:CC:C	acceptor_gain	1.0000
16:20349213:C:CC	acceptor_gain	1.0000
16:20349213:CTGTG:C	acceptor_loss	1.0000
16:20349214:T:G	acceptor_loss	1.0000
16:20350644:ACTT:A	donor_loss	1.0000
16:20350646:TTAC:T	donor_loss	1.0000
16:20350648:A:AC	donor_gain	1.0000
16:20350648:ACTTG:A	donor_gain	1.0000
16:20350649:C:CC	donor_gain	1.0000
16:20350649:CT:C	donor_gain	1.0000
16:20350649:CTT:C	donor_gain	1.0000
16:20350649:CTTG:C	donor_gain	1.0000
16:20350649:CTTGC:C	donor_gain	1.0000
16:20341089:A:AC	donor_gain	0.9900
16:20341090:C:CC	donor_gain	0.9900

AlphaMissense

4527 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
16:20348695:C:A	W202C	0.994
16:20348695:C:G	W202C	0.994
16:20341150:G:C	C506W	0.993
16:20348611:C:A	W230C	0.993
16:20348611:C:G	W230C	0.993
16:20341152:A:G	C506R	0.992
16:20348527:C:A	W258C	0.992
16:20348527:C:G	W258C	0.992
16:20348633:C:G	C223S	0.992
16:20348634:A:T	C223S	0.992
16:20337388:A:G	F548S	0.990
16:20337334:C:T	C566Y	0.989
16:20337335:A:G	C566R	0.989
16:20337388:A:C	F548C	0.989
16:20341151:C:T	C506Y	0.989
16:20348548:C:A	W251C	0.989
16:20348548:C:G	W251C	0.989
16:20337333:A:C	C566W	0.988
16:20337373:A:C	F553C	0.988
16:20341151:C:G	C506S	0.987
16:20341152:A:T	C506S	0.987
16:20341279:G:C	F463L	0.987
16:20341279:G:T	F463L	0.987
16:20341280:A:C	F463C	0.987
16:20341281:A:G	F463L	0.987
16:20348440:G:C	C287W	0.987
16:20348634:A:G	C223R	0.986
16:20337340:A:G	L564P	0.985
16:20337367:A:C	F555C	0.985
16:20337387:A:C	F548L	0.985

dbSNP variants (sampled 300 via entrez): RS1000220873 (16:20332932 T>A), RS1000654473 (16:20344421 G>A), RS1000705091 (16:20339436 A>C,G), RS1000720661 (16:20345889 G>A), RS1000758921 (16:20337640 T>C,G), RS1000826505 (16:20339096 G>A), RS1000835140 (16:20342613 G>C,T), RS1000866329 (16:20342896 G>A,C), RS1001087916 (16:20337302 T>C), RS1001165693 (16:20348903 T>C), RS1001332518 (16:20347032 T>C), RS1001361045 (16:20341811 G>A), RS1001524457 (16:20338421 A>G), RS1001595825 (16:20347341 A>G), RS1001715389 (16:20343640 G>A)

Disease associations

OMIM: gene MIM:191845 | disease phenotypes: MIM:162000, MIM:603860, MIM:609886

GenCC curated gene-disease

Disease	Classification	Inheritance
glomerulocystic kidney disease with hyperuricemia and isosthenuria	Definitive	Autosomal dominant
familial juvenile hyperuricemic nephropathy type 1	Strong	Autosomal dominant
autosomal dominant medullary cystic kidney disease with hyperuricemia	Supportive	Autosomal dominant

ClinGen Gene-Disease Validity (1)

Expert-panel classifications — Definitive > Strong > Moderate > Limited > Disputed > Refuted.

Disease	Classification	Inheritance
autosomal dominant medullary cystic kidney disease with or without hyperuricemia	Definitive	AD

Mondo (9): familial juvenile hyperuricemic nephropathy type 1 (MONDO:0008073), autosomal dominant medullary cystic kidney disease with or without hyperuricemia (MONDO:0008264), kidney failure (MONDO:0001106), kidney disorder (MONDO:0005240), essential hypertension (MONDO:0001134), cystic kidney disease (MONDO:0002473), chronic kidney disease (MONDO:0005300), (MONDO:0012356), (MONDO:0019511)

Orphanet (4): OBSOLETE: Familial juvenile hyperuricemic nephropathy type 1 (Orphanet:209886), Autosomal dominant tubulointerstitial kidney disease (Orphanet:34149), UMOD-related autosomal dominant tubulointerstitial kidney disease (Orphanet:88950), NON RARE IN EUROPE: Essential hypertension (Orphanet:243761)

HPO phenotypes

40 total (30 of 40 shown, HPO-id order):

HPO	Term
HP:0000006	Autosomal dominant inheritance
HP:0000076	Vesicoureteral reflux
HP:0000083	Renal insufficiency
HP:0000089	Renal hypoplasia
HP:0000092	Renal tubular atrophy
HP:0000093	Proteinuria
HP:0000096	Glomerular sclerosis
HP:0000103	Polyuria
HP:0000107	Renal cyst
HP:0000108	Renal corticomedullary cysts
HP:0000123	Nephritis
HP:0000790	Hematuria
HP:0000794	IgA deposition in the glomerulus
HP:0000822	Hypertension
HP:0001942	Metabolic acidosis
HP:0001970	Tubulointerstitial nephritis
HP:0001997	Gout
HP:0002149	Hyperuricemia
HP:0003138	Increased blood urea nitrogen
HP:0003158	Hyposthenuria
HP:0003165	Elevated circulating parathyroid hormone level
HP:0003259	Elevated circulating creatinine concentration
HP:0003584	Late onset
HP:0003596	Middle age onset
HP:0003621	Juvenile onset
HP:0003676	Progressive
HP:0003774	Stage 5 chronic kidney disease
HP:0004719	Hyperechogenic kidneys
HP:0004722	Thickened glomerular basement membrane
HP:0005565	Reduced renal corticomedullary differentiation

GWAS associations

47 associations (top):

Study	Trait	p-value
GCST000397_1	Renal function and chronic kidney disease	5.000000e-16
GCST000397_3	Renal function and chronic kidney disease	2.000000e-12
GCST000649_18	Chronic kidney disease	1.000000e-20
GCST000742_1	Chronic kidney disease and serum creatinine levels	4.000000e-10
GCST000849_1	Hypertension	4.000000e-11
GCST001315_2	Femoral neck bone geometry	2.000000e-06
GCST001606_8	Renal function-related traits (sCR)	1.000000e-10
GCST001607_7	Renal function-related traits (eGRFcrea)	4.000000e-10
GCST002376_2	Urinary uromodulin levels	8.000000e-73
GCST002720_1	Kidney function decline traits	2.000000e-17
GCST002720_6	Kidney function decline traits	8.000000e-13
GCST002720_7	Kidney function decline traits	9.000000e-08
GCST002720_8	Kidney function decline traits	4.000000e-06
GCST003372_56	Glomerular filtration rate (creatinine)	9.000000e-43
GCST003373_1	Glomerular filtration rate in diabetics (creatinine)	2.000000e-08
GCST003374_10	Chronic kidney disease	2.000000e-25
GCST003401_13	Glomerular filtration rate in non diabetics (creatinine)	5.000000e-36
GCST003790_11	Glomerular filtration rate	2.000000e-15
GCST003790_5	Glomerular filtration rate	4.000000e-07
GCST003790_6	Glomerular filtration rate	2.000000e-09
GCST004292_9	Glomerular filtration rate (creatinine)	5.000000e-40
GCST004293_1	Glomerular filtration rate (cystatin C)	3.000000e-10
GCST005891_3	Glomerular filtration rate in diabetes	2.000000e-12
GCST005892_2	Glomerular filtration rate in type 2 diabetes	4.000000e-12
GCST006023_11	Hypertension	6.000000e-08
GCST006190_84	Diastolic blood pressure x smoking status (ever vs never) interaction (2df test)	6.000000e-08
GCST006191_2	Diastolic blood pressure x smoking status (ever vs never) interaction (1df test)	2.000000e-08
GCST007094_91	Diastolic blood pressure	2.000000e-09
GCST007344_13	Estimated glomerular filtration rate	4.000000e-20
GCST007344_16	Estimated glomerular filtration rate	3.000000e-83

EFO canonical traits (10, from GWAS)

EFO ID	Trait name
EFO:0004511	femoral neck bone geometry
EFO:0005663	urinary uromodulin measurement
EFO:0006829	GFR change measurement
EFO:0004617	cystatin C measurement
EFO:0006336	diastolic blood pressure
EFO:0006527	smoking status measurement
EFO:0009104	hyperuricemia
EFO:0004761	uric acid measurement
EFO:0009930	Calcium channel blocker use measurement
EFO:0004531	urate measurement

MeSH disease descriptors (7)

Descriptor	Name	Tree numbers
D000075222	Essential Hypertension	C14.907.489.165
D007674	Kidney Diseases	C12.050.351.968.419; C12.200.777.419; C12.950.419
D052177	Kidney Diseases, Cystic	C12.050.351.968.419.403; C12.200.777.419.403; C12.950.419.403
D007676	Kidney Failure, Chronic	C12.050.351.968.419.780.750.500; C12.200.777.419.780.750.500; C12.950.419.780.750.500; C23.550.291.500.906.500
D051437	Renal Insufficiency	C12.050.351.968.419.780; C12.200.777.419.780; C12.950.419.780
C563693	Glomerulocystic Kidney Disease with Hyperuricemia and Isosthenuria (supp.)
C536137	Medullary cystic kidney disease 1 (supp.)

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

PharmGKB: 1 entry (VIP=true, CPIC=false)

PharmGKB variants

1 variants.

Variant	Genes	Level	Score	#Clin annots	Drugs
rs12917707	UMOD		0.00	0

CTD chemical–gene interactions

7 total (human), top 7 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
CGP 52608	affects binding, increases reaction	1
Acetazolamide	increases expression	1
Arsenates	affects cotreatment, increases expression	1
Atrazine	affects cotreatment, increases expression	1
Benzo(a)pyrene	decreases methylation	1
Calcium	affects binding	1
Lead	affects methylation	1

Clinical trials (associated diseases)

300 trials via MONDO — disease-level, not drug-specific.

Trial	Phase	Status	Title
NCT00123331	PHASE4	COMPLETED	Rapamycin Use in Calcineurin Inhibitor (CNI)-Free Immunosuppression for Stabilization/Improvement of Renal Function After Heart Transplantation
NCT00123461	PHASE4	COMPLETED	Study of Safety and Efficacy of Doxercalciferol in Patients With Chronic Kidney Disease, Stage 3 or 4, and Secondary Hyperparathyroidism
NCT00144118	PHASE4	TERMINATED	The Effect of Isoflurane or Sevoflurane on Kidney Function
NCT00184769	PHASE4	COMPLETED	Growth Hormone Treatment in Infants Aged 1 to 2 Years With Chronic Renal Insufficiency (CRI) and Growth Retardation.
NCT00186329	PHASE4	COMPLETED	BNP for Cardio-Renal Decompensation Syndrome (BNP-CARDS)
NCT00194883	PHASE4	SUSPENDED	Effect of Cytokines on Growth of Children With Chronic Kidney Failure
NCT00195429	PHASE4	COMPLETED	A Study Comparing the Withdrawal of Steroids or Tacrolimus in Kidney Transplant Recipients
NCT00195468	PHASE4	COMPLETED	Study Comparing Cyclosporine Dose Reduction vs. Cyclosporine Elimination in Kidney Transplant Recipients Taking Sirolimus
NCT00195481	PHASE4	COMPLETED	Study Evaluating Sirolimus in Kidney Transplant Recipients in India
NCT00209417	PHASE4	TERMINATED	Renal Effects of Two Iodinated Contrast Media in Patients at Risk Undergoing Computed Tomography
NCT00246129	PHASE4	COMPLETED	CamTac Trial:Campath-Tacrolimus vs IL2R MoAb/Tacrolimus/MMF in Renal Transplantation
NCT00247325	PHASE4	COMPLETED	RECOVER:Comparison of Renal Toxicity Between Visipaque(Iodixanol)and Hexabrix(Ioxaglate)in Renal Insufficiency Undergoing Coronary Angiography
NCT00254709	PHASE4	COMPLETED	Study Evaluating Two Different Sirolimus-based Immunosuppressive Regimens in Elderly Kidney Transplant Recipients
NCT00259441	PHASE4	COMPLETED	PROMISS: Simvastatin Prevents the Contrast Induced Acute Renal Failure in Patients With Renal Insufficiency Undergoing Coronary Angiography
NCT00261820	PHASE4	COMPLETED	Study Comparing Two Immunosuppressive Regimens in De Novo Renal Allograft Recipients
NCT00266123	PHASE4	COMPLETED	Study Comparing Two Sirolimus Regimens vs. Tacrolimus and Mycophenolate Mofetil Regimen in Kidney Transplant Recipients
NCT00282217	PHASE4	COMPLETED	Study Evaluating Sirolimus in the Treatment of Kidney Transplant
NCT00294866	PHASE4	COMPLETED	Effect of Paricalcitol on Markers of Inflammation in Hemodialysis Patients
NCT00295555	PHASE4	COMPLETED	Doxazosin Effects on ABPM in Hypertensive Patients With Diabetic Nephropathy
NCT00356954	PHASE4	COMPLETED	NASPI: N-Acetylcysteine vs. Ascorbic Acid for Prevention of Contrast Induced Nephropathy in Renal Insufficiency Undergoing Coronary Catheterization
NCT00368901	PHASE4	COMPLETED	STAAR-2 Clinical Study
NCT00369382	PHASE4	COMPLETED	Study Of The Safety And Efficacy Of Conversion From A CNI To Sirolimus In Renally-Impaired Heart Transplant Recipients
NCT00369733	PHASE4	COMPLETED	STAAR-3 Clinical Study
NCT00369772	PHASE4	COMPLETED	STAAR-1 Clinical Study
NCT00396435	PHASE4	COMPLETED	Correction of Anaemia and Progression of Renal Failure on Transplanted Patients
NCT00412802	PHASE4	COMPLETED	Adaptation Dose of Enoxaparin in Moderate Renal Failure Patients With Acute Coronary Syndrome
NCT00483275	PHASE4	WITHDRAWN	Fall Prevention by Alfacalcidol and Training
NCT00492518	PHASE4	COMPLETED	Acetylcysteine, Theophylline, and a Combination of Both in the Prophylaxis of Contrast-Induced Nephropathy
NCT00495365	PHASE4	TERMINATED	A Dose Conversion Study of Epoetin Alfa in Subjects With the Anemia of Chronic Kidney Disease.
NCT00527059	PHASE4	UNKNOWN	Renal Effects of Levosimendan in Patients Admitted With Acute Decompensated Heart Failure
NCT00566033	PHASE4	COMPLETED	Multiple Intervention and AUdit in Renal Diseases to Optimize Care
NCT00584350	PHASE4	UNKNOWN	Prevention of Contrast Nephropathy During Diagnostic Coronary Angiogram or PCI With Hydratation Based on LEVDP
NCT00613964	PHASE4	TERMINATED	The Effects of Carperitide on Short and Long-term Prognosis in Patients With Both Cardiac and Renal Failure
NCT00650845	PHASE4	COMPLETED	Renal Safety Evaluation After Dotarem®-Enhanced MRI
NCT00656266	PHASE4	TERMINATED	Trial of Calcineurin Inhibitor-Sparing Immunosuppression Regimen in Pediatric Liver Transplantation
NCT00716573	PHASE4	COMPLETED	Efficacy Study of Everolimus on Renal Function in Heart Transplant Recipients With Established Chronic Renal Failure
NCT00748072	PHASE4	COMPLETED	1-deamino 8-d-arginine Vasopressin (DDAVP) in Percutaneous Ultrasound-guided Renal Biopsy
NCT00748904	PHASE4	WITHDRAWN	Rifaximin Versus Lactulose in Renal Failure
NCT00823628	PHASE4	COMPLETED	Contrast-medium Induced Nephrotoxicity in Patients Undergoing Coronary Angiography - Iodixanol Versus Iopromide
NCT00839358	PHASE4	COMPLETED	Effect of Midodrine and Albumine in the Prevention of Complications in Cirrhotic Patients Awaiting Liver Transplantation