Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	7369
Gene name Gene Name - the full gene name approved by the HGNC.	Uromodulin
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	UMOD
Synonyms (NCBI Gene) Gene synonyms aliases	ADMCKD2, ADTKD1, FJHN, HNFJ, HNFJ1, MCKD2, THGP, THP
Disease Acronyms (UniProt) Disease acronyms from UniProt database	ADTKD1
Chromosome Chromosome number	16
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	16p12.3
Summary Summary of gene provided in NCBI Entrez 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 situat

Show/Hide all(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
rs121917770	T>C	Pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs121917771	C>T	Pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs121917772	A>C	Pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs121917773	A>G	Pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs121917774	C>A	Pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs398122388	C>G	Pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs398123697	C>A,T	Conflicting-interpretations-of-pathogenicity, pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs398123698	C>T	Pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs750535100	G>A,T	Likely-pathogenic	Missense variant, synonymous variant, non coding transcript variant, coding sequence variant
rs780462125	A>T	Likely-pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs878855325	CTTCGGGGCAGA>AGGAGGCGG	Pathogenic	Non coding transcript variant, inframe indel, coding sequence variant
rs886043751	G>A,C,T	Pathogenic	Coding sequence variant, missense variant, non coding transcript variant, synonymous variant, stop gained
rs1057515585	C>A,T	Pathogenic	Stop gained, non coding transcript variant, coding sequence variant, missense variant
rs1057522004	T>C	Likely-pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs1060499657	T>C	Likely-pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs1447458978	G>A	Pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs1555486021	C>T	Likely-pathogenic	Missense variant, non coding transcript variant, genic downstream transcript variant, coding sequence variant
rs1555487316	A>C	Likely-pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs1555487318	T>G	Pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs1555487528	GCGCCAGTACTCGTCCAGGGTGCGGTG>-	Pathogenic	Inframe deletion, non coding transcript variant, coding sequence variant
rs1555487621	A>C	Pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs1555487726	C>T	Likely-pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs1567309582	C>G	Likely-pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs1567309965	C>T	Likely-pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs1567310019	G>C	Pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs1567310155	G>A	Pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs1567311279	A>T	Likely-pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs1567311288	A>G	Likely-pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs1596560944	C>T	Pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs1596561934	G>C	Pathogenic	Non coding transcript variant, coding sequence variant, missense variant

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miRTarBase ID	miRNA	Experiments
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
MIRT2462902	hsa-miR-330-3p	CLIP-seq
MIRT2462903	hsa-miR-3714	CLIP-seq
MIRT2462904	hsa-miR-3929	CLIP-seq
MIRT2462905	hsa-miR-4419b	CLIP-seq
MIRT2462906	hsa-miR-4422	CLIP-seq
MIRT2462907	hsa-miR-4478	CLIP-seq
MIRT2462908	hsa-miR-940	CLIP-seq

Transcription factors

Show/Hide all(1)

Transcription factor	Regulation	Reference
HNF1B	Activation	18846391

Show/Hide all(59)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000255	Process	Allantoin metabolic process	IEA
GO:0000922	Component	Spindle pole	IDA	20172860
GO:0002251	Process	Organ or tissue specific immune response	IEA
GO:0003091	Process	Renal water homeostasis	IEA
GO:0003094	Process	Glomerular filtration	IEA
GO:0005201	Function	Extracellular matrix structural constituent	IBA	21873635
GO:0005509	Function	Calcium ion binding	IEA
GO:0005615	Component	Extracellular space	IBA	21873635
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0005796	Component	Golgi lumen	TAS
GO:0005929	Component	Cilium	IDA	20172860
GO:0006629	Process	Lipid metabolic process	IEA
GO:0006874	Process	Cellular calcium ion homeostasis	IEA
GO:0006883	Process	Cellular sodium ion homeostasis	IEA
GO:0006914	Process	Autophagy	IEA
GO:0006954	Process	Inflammatory response	IEA
GO:0006968	Process	Cellular defense response	TAS	2409603
GO:0007029	Process	Endoplasmic reticulum organization	IEA
GO:0007157	Process	Heterophilic cell-cell adhesion via plasma membrane cell adhesion molecules	IDA	20798515
GO:0007159	Process	Leukocyte cell-cell adhesion	IDA	20798515
GO:0007588	Process	Excretion	IEA
GO:0008285	Process	Negative regulation of cell population proliferation	TAS	2409603
GO:0008380	Process	RNA splicing	IEA
GO:0009414	Process	Response to water deprivation	IEA
GO:0009986	Component	Cell surface	IBA	21873635
GO:0016323	Component	Basolateral plasma membrane	IDA	7028707, 20798515
GO:0016324	Component	Apical plasma membrane	IBA	21873635
GO:0016324	Component	Apical plasma membrane	IDA	7028707, 18025791, 20798515
GO:0018107	Process	Peptidyl-threonine phosphorylation	IEA
GO:0019628	Process	Urate catabolic process	IEA
GO:0019864	Function	IgG binding	IDA	20798515
GO:0019898	Component	Extrinsic component of membrane	TAS	7873609
GO:0030433	Process	Ubiquitin-dependent ERAD pathway	IEA
GO:0030643	Process	Cellular phosphate ion homeostasis	IEA
GO:0030644	Process	Cellular chloride ion homeostasis	IEA
GO:0031225	Component	Anchored component of membrane	IDA	2249987
GO:0032496	Process	Response to lipopolysaccharide	IEA
GO:0033209	Process	Tumor necrosis factor-mediated signaling pathway	IEA
GO:0034620	Process	Cellular response to unfolded protein	IEA
GO:0035809	Process	Regulation of urine volume	IEA
GO:0042493	Process	Response to drug	IEA
GO:0046720	Process	Citric acid secretion	IEA
GO:0050829	Process	Defense response to Gram-negative bacterium	IEA
GO:0051223	Process	Regulation of protein transport	IEA
GO:0060170	Component	Ciliary membrane	IEA
GO:0061077	Process	Chaperone-mediated protein folding	IEA
GO:0070062	Component	Extracellular exosome	HDA	19056867, 23533145
GO:0070294	Process	Renal sodium ion absorption	IEA
GO:0072044	Process	Collecting duct development	IEA
GO:0072051	Process	Juxtaglomerular apparatus development	IEA
GO:0072218	Process	Metanephric ascending thin limb development	IEA
GO:0072221	Process	Metanephric distal convoluted tubule development	IEA
GO:0072233	Process	Metanephric thick ascending limb development	IEA
GO:0072665	Process	Protein localization to vacuole	IEA
GO:0097190	Process	Apoptotic signaling pathway	IEA
GO:0097273	Process	Creatinine homeostasis	IEA
GO:0097709	Process	Connective tissue replacement	IEA
GO:1990266	Process	Neutrophil migration	IBA	21873635
GO:1990266	Process	Neutrophil migration	IDA	20798515

MIM	HGNC	e!Ensembl
191845	12559	ENSG00000169344

Protein

UniProt ID

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
LTCVDLDECAIPGAHNCSANSSCVNTPGSFSCVCPEGFRLSPGLGCTDVDECAEPGLSHC
HALATCVNVVGSYLCVCPAGYRGDGWHCECSPGSCGPGLDCVPEGDALVCADPCQAHRTL
DEYWRSTEYGEGYACDTDLRGWYRFVGQGGARMAETCVPVLRCNTAAPMWLNGTHPSSDE
GIVSRKACAHWSGHCCLWDASVQVKACAGGYYVYNLTAPPECHLAYCTDPSSVEGTCEEC
SIDEDCKSNNGRWHCQCKQDFNITDISLLEHRLECGANDMKVSLGKCQLKSLGFDKVFMY
LSDSRCSGFNDRDNRDWVSVVTPARDGPCGTVLTRNETHATYSNTLYLADEIIIRDLNIK
INFACSYPLDMKVSLKTALQPMVSALNIRVGGTGMFTVRMALFQTPSYTQPYQGSSVTLS
TEAFLYVGTMLDGGDLSRFALLMTNCYATPSSNATDPLKYFIIQDRCPHTRDSTIQVVEN
GESSQGRFSVQMFRFAGNYDLVYLHCEVYLCDTMNEKCKPTCSGTRFRSGSVIDQSRVLN
LGPITRKGVQATVSRAFSSLGLLKVWLPLLLSATLTLTFQ

Sequence length

640

Interactions

View interactions

	Reactome
			Asparagine N-linked glycosylation

Show/Hide Causal Diseases (6)

Disease term	Disease name	dbSNP ID	References
Causal
Diabetes	Diabetes	rs80356611	29703844
Diabetes mellitus	Diabetes Mellitus, Diabetes Mellitus, Non-Insulin-Dependent	rs587776515, rs61730328, rs606231121, rs606231122, rs79020217, rs77625743, rs78378398, rs606231123, rs1362648752, rs104893649, rs80356624, rs80356616, rs80356625, rs80356611, rs104894237 View all (293 more)	29703844
Hypertension	Hypertensive disease, Essential Hypertension	rs13306026	21082022, 27618447, 22228705
Hyperuricemic nephropathy	Hyperuricemic Nephropathy, Familial Juvenile 1	rs879255648, rs752745051	14570709, 15983957, 23197950, 22776760, 12629136, 12900848, 15086896, 15575003, 21060763, 14569098, 12471200, 25436415, 23988501, 17010121
Kidney disease	Kidney Diseases, Chronic kidney disease stage 5	rs74315342, rs749740335, rs757649673, rs112417755, rs35138315	19430482, 8486146
Renal insufficiency	Renal Insufficiency	rs1596536873

Show/Hide Unknown Diseases (5)

Disease term	Disease name	Source
Unknown
Hyperuricemic Nephropathy	familial juvenile hyperuricemic nephropathy type 1	GenCC
Cystic Kidney Disease	autosomal dominant medullary cystic kidney disease with or without hyperuricemia	GenCC
Kidney Disease	Kidney Disease	GWAS
Gout	Gout	GWAS
Hyperuricemia	Hyperuricemia	GWAS

Show/Hide Text Mining Associations (68)

Disease Name	Relationship Type	References
Associations from Text Mining
AA amyloidosis	Associate	38154551
Acute Kidney Injury	Inhibit	35100812
Adenocarcinoma	Associate	19340089
Albuminuria	Associate	23586973
Amyotrophic Lateral Sclerosis	Associate	40033250
Anemia	Associate	20151160
Anemia Sickle Cell	Associate	35456398
Aneurysm Ascending Aorta	Associate	27488999
Arthritis Gouty	Associate	10330352, 18651238
Bardet Biedl Syndrome	Associate	27488999
Bartter syndrome antenatal type 1	Inhibit	8377383
Bronchiolitis Obliterans Syndrome	Associate	19357086
Cakut	Associate	18846391
Calculi	Associate	34160472
Carcinoma Renal Cell	Associate	24302177, 26901863, 39348357
Cardiovascular Diseases	Associate	26683887, 36004630
Chronic Kidney Disease Mineral and Bone Disorder	Associate	22034507, 26683888, 29511113, 34824175, 37322316
Cognition Disorders	Associate	36443444
Cognitive Dysfunction	Associate	20151160
Conversion Disorder	Associate	22693617
Cysts	Associate	15673476, 40300987
Cytokine Release Syndrome	Associate	26617860
Diabetes Mellitus	Associate	20686651, 25163389, 26683888
Diabetes Mellitus	Inhibit	28242751
Diabetes Mellitus Type 2	Associate	29578190
Diabetic Nephropathies	Associate	29578190, 29703844
Essential Hypertension	Associate	26617860, 32555714
Fabry Disease	Associate	18651238
Fibrosis	Associate	24670410, 35165522
Frontotemporal Dementia	Associate	32792518
Genetic Diseases Inborn	Associate	16883323, 24886545, 38010247
Glomerulonephritis Membranous	Associate	38154551
Glycosuria	Inhibit	26683887
Glycosuria Renal	Associate	17245395
Gout	Associate	12787393, 20151160, 20686651, 21332338, 23723338, 28894234, 30376835, 32847529, 35456398, 39216982, 40300987
Headache Disorders Secondary	Associate	26272683
Heart Failure	Inhibit	28242751
Hypertension	Associate	20686651, 21082022, 25163389, 26683887, 26683888, 27938332, 29578190, 34593962, 35446786, 36443444, 40300987
Hypertension	Inhibit	28242751
Hyperuricemia	Associate	10330352, 12787393, 15673476, 20151160, 21060763, 21868615, 23344472, 23723338, 25671765, 39216982, 40300987
Inflammation	Associate	26617860, 29578190, 36225178
Intellectual Disability	Associate	33048330
Juvenile gout	Associate	12471200, 14531790, 15086896, 15253706, 15327389, 15589826, 15673476, 16164624, 16883323, 17245395, 17868056, 18846391, 19465746, 21060763, 21868615 View all (8 more)
KBG syndrome	Associate	33048330
Kidney Calculi	Associate	20686651, 28605509
Kidney Diseases	Associate	12471200, 16883323, 18651238, 18846391, 19430482, 20686651, 21868615, 22034507, 23826568, 24670410, 25163389, 25436415, 25540096, 25671765, 25786455 View all (15 more)
Kidney Failure Chronic	Associate	12787393, 15253706, 15327389, 20151160, 21980298, 22034507, 23723338, 25786455, 27938332, 28609449, 30376835
Medullary cystic kidney disease 1	Associate	14531790, 15253706, 16883323, 21868615
Medullary Cystic Kidney Disease 2	Associate	10330352
Myocardial Infarction	Associate	36004630
Neoplastic Syndromes Hereditary	Associate	36038257
Nephritis Interstitial	Associate	21868615, 32764335, 35165522
Nephrolithiasis	Inhibit	27036738
Nephrolithiasis	Associate	28361944
Osteosarcoma	Inhibit	22580740
Polycystic Kidney Diseases	Associate	34469896
Polyuria	Associate	12471200
Proteinuria	Associate	17245395, 30376835, 38154551
Renal Insufficiency	Associate	12787393, 15327389, 15673476, 18651238, 20151160, 32113667, 33048330, 35947615, 36038257, 40300987
Renal Insufficiency Chronic	Associate	12787393, 19430482, 19959715, 20686651, 21060763, 21235779, 21332338, 21980298, 22693617, 25671765, 27897004, 28609449, 28954491, 29066732, 30376835 View all (10 more)
Sickle Cell Trait	Associate	37533140
Sleep Apnea Obstructive	Associate	19797158
Stomach Neoplasms	Associate	36790659
Sveinsson Chorioretinal Atrophy	Associate	38154551
Syndrome	Associate	36417174
Urinary Incontinence Stress	Associate	27193112, 30715578
Urinary Tract Infections	Associate	17245395, 28605509
Urolithiasis	Associate	28361944

UMOD (uromodulin)