Gene Gene information from NCBI Gene database.
Entrez ID 7369
Gene name Uromodulin
Gene symbol UMOD
Synonyms (NCBI Gene)
ADMCKD2ADTKD1FJHNHNFJHNFJ1MCKD2THGPTHP
Chromosome 16
Chromosome location 16p12.3
Summary 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 situat
SNPs SNP information provided by dbSNP.
35
SNP ID Visualize variation Clinical significance Consequence
rs28934582 C>T Pathogenic Non coding transcript variant, missense variant, coding sequence variant
rs28934583 A>C,G Pathogenic Non coding transcript variant, missense variant, coding sequence variant
rs28934584 C>A,G,T Pathogenic Non coding transcript variant, missense variant, coding sequence variant
rs121917768 C>G,T Likely-pathogenic, pathogenic Non coding transcript variant, coding sequence variant, missense variant
rs121917769 A>G Pathogenic Non coding transcript variant, coding sequence variant, missense variant
miRNA miRNA information provided by mirtarbase database.
12
miRTarBase ID miRNA Experiments Reference
MIRT1474911 hsa-miR-1538 CLIP-seq
MIRT1474912 hsa-miR-193a-3p CLIP-seq
MIRT1474913 hsa-miR-193b CLIP-seq
MIRT1474914 hsa-miR-4313 CLIP-seq
MIRT1474915 hsa-miR-4745-3p CLIP-seq
Transcription factors Transcription factors information provided by TRRUST V2 database.
1
Transcription factor Regulation Reference
HNF1B Activation 18846391
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
89
GO ID Ontology Definition Evidence Reference
GO:0000922 Component Spindle pole IDA 20172860
GO:0001822 Process Kidney development IEA
GO:0002251 Process Organ or tissue specific immune response IEA
GO:0002376 Process Immune system process IEA
GO:0003091 Process Renal water homeostasis IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
191845 12559 ENSG00000169344
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P07911
Protein name Uromodulin (Tamm-Horsfall urinary glycoprotein) (THP) [Cleaved into: Uromodulin, secreted form]
Protein 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 t
PDB 4WRN , 6TQK , 6TQL , 6ZS5 , 6ZYA , 7PFP , 7Q3N
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF12947 EGF_3 31 63 EGF domain Domain
PF07645 EGF_CA 65 106 Calcium-binding EGF domain Domain
PF07645 EGF_CA 108 161 Calcium-binding EGF domain Domain
PF00100 Zona_pellucida 335 583 Zona pellucida-like domain Family
Tissue specificity 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)
Sequence
MGQPSLTWMLMVVVASWFITTAATDTSEARWCSECHSNATCTEDEAVTTCTCQEGFTGDG
LTC
VDLDECAIPGAHNCSANSSCVNTPGSFSCVCPEGFRLSPGLGCTDVDECAEPGLSHC
HALATCVNVVGSYLCVCPAGYRGDGWHCECSPGSCGPGLDC
VPEGDALVCADPCQAHRTL
DEYWRSTEYGEGYACDTDLRGWYRFVGQGGARMAETCVPVLRCNTAAPMWLNGTHPSSDE
GIVSRKACAHWSGHCCLWDASVQVKACAGGYYVYNLTAPPECHLAYCTDPSSVEGTCEEC
SIDEDCKSNNGRWHCQCKQDFNITDISLLEHRLECGANDMKVSLGKCQLKSLGFDKVFMY
LSDSRCSGFNDRDNRDWVSVVTPARDGPCGTVLTRNETHATYSNTLYLADEIIIRDLNIK
INFACSYPLDMKVSLKTALQPMVSALNIRVGGTGMFTVRMALFQTPSYTQPYQGSSVTLS
TEAFLYVGTMLDGGDLSRFALLMTNCYATPSSNATDPLKYFIIQDRCPHTRDSTIQVVEN
GESSQGRFSVQMFRFAGNYDLVYLHCEVYLCDTMNEKCKPTCS
GTRFRSGSVIDQSRVLN
LGPITRKGVQATVSRAFSSLGLLKVWLPLLLSATLTLTFQ
Sequence length 640
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  Reactome
    Asparagine N-linked glycosylation
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
26
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Autosomal dominant medullary cystic kidney disease with or without hyperuricemia Likely pathogenic; Pathogenic rs780475918, rs878855325, rs398123697, rs766919534, rs1197633531, rs1965755740 RCV005250201
RCV001328178
RCV001328229
RCV001328181
RCV001328230
View all (1 more)
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Familial juvenile hyperuricemic nephropathy type 1 Likely pathogenic; Pathogenic rs1596552335, rs2141676976, rs2141676533, rs2141676232, rs781101544, rs2141676543, rs780475918, rs747592262, rs1555487621, rs2507390389, rs2507391033, rs878855325, rs2507391645, rs2507391567, rs886043751
View all (40 more)
RCV002251411
RCV002251410
RCV002251414
RCV002251418
RCV002251421
View all (55 more)
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
UMOD-related disorder Pathogenic; Likely pathogenic rs886043751, rs1555487528, rs28934584, rs2507389035, rs1567310155, rs1057522004, rs1447458978 RCV004535399
RCV004739301
RCV004528105
RCV004534209
RCV004531830
View all (2 more)
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
ANEMIA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
AUTOSOMAL DOMINANT TUBULOINTERSTITIAL KIDNEY DISEASE Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Chronic kidney disease Conflicting classifications of pathogenicity ClinVar
GWAS catalog
★★★☆☆
Reported in Unknown/Other Associations (≥2 sources)
CHRONIC KIDNEY DISEASES Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
2,8-Dihydroxyadenine Urolithiasis 2,8-Dihydroxyadenine Urolithiasis BEFREE 24961278
★☆☆☆☆
Found in Text Mining only
Acute Coronary Syndrome Coronary Syndrome BEFREE 31257404
★☆☆☆☆
Found in Text Mining only
Acute lymphocytic leukemia Lymphocytic Leukemia BEFREE 28721806
★☆☆☆☆
Found in Text Mining only
Acute pancreatitis Pancreatitis BEFREE 28613246
★☆☆☆☆
Found in Text Mining only
Adult Acute Lymphocytic Leukemia Lymphocytic Leukemia BEFREE 28721806
★☆☆☆☆
Found in Text Mining only
Amyotrophic Lateral Sclerosis Amyotrophic lateral sclerosis Pubtator 40033250 Associate
★☆☆☆☆
Found in Text Mining only
Anemia Anemia Pubtator 20151160 Associate
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Anemia Sickle Cell Sickle cell anemia Pubtator 35456398 Associate
★☆☆☆☆
Found in Text Mining only
Anorexia Anorexia BEFREE 29061362
★☆☆☆☆
Found in Text Mining only
Anxiety Anxiety Disorder BEFREE 17351635, 21946309
★☆☆☆☆
Found in Text Mining only