UMOD (uromodulin)

Gene

• Entrez ID: 7369
• Gene name: Uromodulin
• Gene symbol: UMOD
• Synonyms: ADMCKD2, ADTKD1, FJHN, HNFJ, HNFJ1, MCKD2, THGP, THP
• 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 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

miRNA

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
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

Transcription factor	Regulation	Reference
HNF1B	Activation	18846391

Gene ontology (GO)

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

Other IDs

• MIM: 191845
• HGNC: 12559
• e!Ensembl: 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

• Sequence:

  MGQPSLTWMLMVVVASWFITTAATDTSEARWCSECHSNATCTEDEAVTTCTCQEGFTGDG
  LTCVDLDECAIPGAHNCSANSSCVNTPGSFSCVCPEGFRLSPGLGCTDVDECAEPGLSHC
  HALATCVNVVGSYLCVCPAGYRGDGWHCECSPGSCGPGLDCVPEGDALVCADPCQAHRTL
  DEYWRSTEYGEGYACDTDLRGWYRFVGQGGARMAETCVPVLRCNTAAPMWLNGTHPSSDE
  GIVSRKACAHWSGHCCLWDASVQVKACAGGYYVYNLTAPPECHLAYCTDPSSVEGTCEEC
  SIDEDCKSNNGRWHCQCKQDFNITDISLLEHRLECGANDMKVSLGKCQLKSLGFDKVFMY
  LSDSRCSGFNDRDNRDWVSVVTPARDGPCGTVLTRNETHATYSNTLYLADEIIIRDLNIK
  INFACSYPLDMKVSLKTALQPMVSALNIRVGGTGMFTVRMALFQTPSYTQPYQGSSVTLS
  TEAFLYVGTMLDGGDLSRFALLMTNCYATPSSNATDPLKYFIIQDRCPHTRDSTIQVVEN
  GESSQGRFSVQMFRFAGNYDLVYLHCEVYLCDTMNEKCKPTCSGTRFRSGSVIDQSRVLN
  LGPITRKGVQATVSRAFSSLGLLKVWLPLLLSATLTLTFQ

• Sequence length: 640

Pathways

Reactome:

Asparagine N-linked glycosylation

Associated diseases

Causal
Disease name	Disease term	dbSNP ID	References
Diabetes	Diabetes	rs80356611	29703844
Diabetes mellitus	Diabetes Mellitus, Diabetes Mellitus, Non-Insulin-Dependent	rs587776515, rs61730328, rs606231121, rs606231122, rs79020217, rs77625743, rs78378398, rs606231123, rs4402960, rs1362648752, rs3745368, rs3792267, rs3842570, rs5030952, rs2975760, rs119489103, rs7903146, rs12255372, rs11196205, rs104893649, rs80356624, rs80356616, rs80356625, rs80356611, rs104894237, rs80356613, rs137852740, rs137852786, rs387906407, rs151344623, rs28938469, rs28936371, rs137852672, rs80356637, rs80356642, rs80356653, rs137852673, rs137852674, rs80356634, rs80356651, rs193929360, rs137853334, rs137853335, rs137853336, rs1600731198, rs137853338, rs121964882, rs121964883, rs387906511, rs121964884, rs121964885, rs2147483647, rs387906512, rs121964887, rs121964888, rs121964889, rs121964890, rs121964891, rs28934878, rs74315383, rs121964893, rs886037620, rs886037621, rs80356663, rs121434593, rs121913150, rs587776825, rs137853236, rs2135842335, rs137853237, rs137853238, rs2135818776, rs1566092470, rs1463923467, rs137853243, rs137853244, rs2135839114, rs137853245, rs2135847417, rs121918407, rs104894005, rs104894006, rs80356655, rs104894008, rs104894009, rs104894010, rs104894011, rs80356654, rs104894016, rs193929376, rs193929374, rs193929375, rs193929373, rs80356666, rs80356669, rs80356664, rs193929366, rs1048095, rs193929355, rs193929356, rs1259467443, rs104893642, rs387906777, rs387906779, rs141804752, rs182349376, rs184917682, rs193922396, rs193922400, rs193922401, rs137852676, rs193922407, rs193922638, rs193922257, rs193922258, rs193922259, rs193922260, rs193922261, rs193922262, rs193922263, rs193922264, rs193922265, rs193922268, rs193921338, rs193922269, rs193922272, rs193922273, rs193922275, rs193922278, rs193922279, rs193922280, rs193922281, rs193922282, rs193922283, rs193922284, rs193922286, rs193922287, rs193922289, rs193922291, rs193922295, rs193922297, rs193922300, rs193922302, rs193922303, rs193922308, rs193922313, rs193922314, rs144723656, rs193922315, rs193922316, rs193922317, rs148311934, rs193922319, rs193922320, rs193922326, rs193922329, rs193922330, rs193922331, rs193922335, rs193922336, rs193922338, rs193922340, rs193922341, rs193922471, rs193922475, rs193922476, rs193922479, rs193922355, rs193922356, rs193922576, rs193922578, rs193922582, rs193922588, rs193922592, rs193922594, rs193922596, rs386134267, rs193922598, rs193922599, rs193922600, rs193922604, rs193922605, rs397514580, rs397515519, rs267601516, rs587780343, rs587780345, rs587780346, rs587780347, rs587780357, rs148954387, rs61736969, rs587783673, rs587783672, rs587783669, rs786204676, rs794727236, rs151344624, rs794727775, rs794727839, rs199946797, rs869320673, rs796065047, rs759072800, rs797045595, rs797045209, rs797045207, rs797045213, rs797045623, rs863225280, rs149703259, rs864321656, rs139964066, rs777870079, rs878853246, rs769268803, rs886039380, rs886041392, rs886041391, rs886042610, rs143064649, rs1057516192, rs746480424, rs1057516281, rs576684889, rs754728827, rs1057520291, rs1057520779, rs893256143, rs1057520504, rs1057524790, rs1057524902, rs1057524904, rs1057524905, rs764232985, rs1064793998, rs1064794268, rs769086289, rs369429452, rs1085307913, rs1131691416, rs765432081, rs1131692182, rs748749585, rs1554335441, rs762263694, rs1312678560, rs767565869, rs1375656631, rs1554335391, rs1360415315, rs1554335616, rs1554335752, rs1554909277, rs769518471, rs757171524, rs768951263, rs762703502, rs1555212248, rs1555212359, rs1555813319, rs1555816654, rs1553638903, rs1553638909, rs948820149, rs371977235, rs1553784995, rs76474829, rs200998587, rs1415041911, rs1554334894, rs1260178539, rs1554335421, rs1555211904, rs779184183, rs1554335564, rs200670692, rs1400535021, rs1554334872, rs1555212749, rs1553876668, rs1553878211, rs954727530, rs1554924035, rs372307320, rs925231098, rs1554913069, rs1554933565, rs766431403, rs746714109, rs751279984, rs770664202, rs1008906426, rs758844607, rs1554924540, rs1566092307, rs753998395, rs1565885935, rs1167124132, rs1376796469, rs556436603, rs1562715657, rs1486280029, rs1564869850, rs755259997, rs769569410, rs1172328722, rs1286294151, rs1375557127, rs1568731279, rs1562715426, rs556581174, rs1564865302, rs1565886545, rs776793516, rs1568724014, rs1392795567, rs781260712, rs1562719705, rs1382448285, rs1564977373, rs750586210, rs1598842892, rs1583592247, rs780612692, rs1593060859, rs1476637197, rs751279776, rs1593060890, rs1191912908, rs1167675604, rs1583601110, rs1593058932, rs778611627, rs753296261	29703844
Hypertension	Hypertensive disease, Essential Hypertension	rs13306026, rs13333226	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

Unknown
Disease name	Disease term	dbSNP ID	References
Ciliopathies	Ciliopathies
Cystic kidney disease	Cystic Kidney Diseases		29180396
Glomerulocystic kidney disease with hyperuricemia and isosthenuria	Glomerulocystic Kidney Disease with Hyperuricemia and Isosthenuria		15983957, 17010121, 14570709
Gout	Gout
Hypertensive nephropathy	hypertensive nephropathy
Hyperuricemia	Hyperuricemia		29124443
Kidney failure	Kidney Failure, Chronic		20686651, 29124443, 26831199
Medullary cystic kidney disease	Medullary Cystic Kidney Disease Type 2		14531790, 14570709, 17010121, 15983957, 25436415, 27729211, 14569098, 12471200
Multiple renal cysts	Multiple renal cysts
Multiple small medullary renal cysts	Multiple small medullary renal cysts
Nephritis	Nephritis, Nephritis, Interstitial, Nephritis, Tubulointerstitial
Renal corticomedullary cysts	Renal corticomedullary cysts
Renal glomerular disease	Renal glomerular disease
Tubulointerstitial kidney disease	UMOD-related autosomal dominant tubulointerstitial kidney disease