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Set Analyses:

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UMOD Gene

protein-coding GIFtS: 63
GCID: GC16M020344

Uromodulin

(Previous names: uromodulin (uromucoid, Tamm-Horsfall glycoprotein))

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(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, ¹⁰fRNAdb, ¹²H-InvDB, ¹³NCBI, ¹⁴NONCODE, and/or ¹⁵RNAdb)
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Aliases
uromodulin¹ ²		HNFJ1² ⁵
uromucoid¹ ²		MCKD2² ⁵
THP² ³		Tamm-Horsfall Glycoprotein¹
Tamm-Horsfall Urinary Glycoprotein² ³		Uromodulin (Uromucoid, Tamm-Horsfall Glycoprotein)¹
ADMCKD2² ⁵		HNFJ²
FJHN² ⁵		THGP²

External Ids:	HGNC: 12559¹	Entrez Gene: 7369²	Ensembl: ENSG00000169344⁷	OMIM: 191845⁵	UniProtKB: P07911³

Export aliases for UMOD gene to outside databases

Previous GC identifers: GC16P019829 GC16M019774 GC16M020271 GC16M020310 GC16M020251 GC16M018883

(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for UMOD 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 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. (provided by RefSeq, Jul 2013)

GeneCards Summary for UMOD Gene:

UMOD (uromodulin) is a protein-coding gene. Diseases associated with UMOD include uromodulin-associated kidney disease, and umod-associated kidney disease. GO annotations related to this gene include calcium ion binding. An important paralog of this gene is GP2.

UniProtKB/Swiss-Prot: UROM_HUMAN, P07911

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 providing the water barrier permeability. May serve as a receptor for binding and endocytosis for

cytokines (IL-1, IL-2) and TNF. Facilitates neutrophil migration across renal epithelial

Function: Uromodulin, secreted form: Secreted into urine after proteolytically cleaveage. Into the urine, may

contribute to colloid osmotic pressure, retards passage of positively charged electrolytes, prevents urinary

tract infection and modulates formation of supersaturated salts and their crystals

Gene Wiki entry for UMOD (Tamm-Horsfall protein) Gene

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:

NC_000016.10 NT_187260.1 NC_018927.2

Regulatory elements:

Regulatory transcription factor binding sites in the UMOD gene promoter:
AhR Nkx3-1 Nkx3-1 v4 Brachyury XBP-1 Nkx3-1 v1 Nkx3-1 v2 HFH-1 Nkx3-1 v3
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: UMOD promoter sequence

Search Chromatin IP Primers for UMOD

Epigenetics:

DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat UMOD

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 16p12.3 Ensembl cytogenetic band: 16p12.3 HGNC cytogenetic band: 16p12.3

UMOD Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
UMOD gene location

GeneLoc information about chromosome 16 GeneLoc Exon Structure

GeneLoc location for GC16M020344: view genomic region (about GC identifiers)

Start:	20,344,373 bp from pter	End:	20,367,623 bp from pter
Size:	23,251 bases	Orientation:	minus strand

(According to ¹UniProtKB, HORDE, ²neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: UROM_HUMAN, P07911 (See protein sequence)

Recommended Name: Uromodulin precursor

Size: 640 amino acids; 69761 Da

Miscellaneous: A specific, but as yet unidentified, protease(s) cleaves off and releases UMOD into urine

Secondary accessions: B3KP48 B3KRN9 Q540J6 Q6ZS84 Q8IYG0

Alternative splicing: 4 isoforms: P07911-1 P07911-2 P07911-3 P07911-4 (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for UMOD: NX_P07911

Explore proteomics data for UMOD at MOPED

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)¹

Proteolytically cleaved at a conserved C-terminal proteolytic cleavage site to generate the secreted form found

into urine¹

Glycosylation² at Asn38, Asn76, Asn80, Asn232, Asn275, Asn322, Asn396

See UMOD Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

REFSEQ proteins (3 alternative transcripts):

NP_001008390.1 NP_001265543.1 NP_003352.2

ENSEMBL proteins:

ENSP00000379438 ENSP00000379442 ENSP00000460548 ENSP00000460374 ENSP00000458939

ENSP00000459738 ENSP00000460845 ENSP00000461641 ENSP00000459724 ENSP00000461120

ENSP00000458695 ENSP00000416346 ENSP00000306279 ENSP00000379446

UMOD Human Recombinant Protein Products:

	EMD Millipore Purified and/or Recombinant UMOD Protein
	Browse R&D Systems for human recombinant proteins
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	OriGene Purified Protein for UMOD Browse OriGene Protein Over-expression Lysates OriGene MassSpec for UMOD OriGene Custom Protein Services for UMOD
	GenScript Custom Purified and Recombinant Proteins Services for UMOD
	Novus Biologicals UMOD Protein Novus Biologicals UMOD Lysates
	Browse Sino Biological Recombinant Proteins Browse Sino Biological Cell Lysates
	ProSpec Recombinant Protein for UMOD
	Cloud-Clone Corp. Proteins for UMOD

UMOD Antibody Products:

	EMD Millipore Mono- and Polyclonal Antibodies for the study of UMOD
	R&D Systems Antibodies for UMOD (Uromodulin)
	OriGene Antibodies for UMOD OriGene Custom Antibody Services for UMOD
	Novus Biologicals UMOD Antibodies
	Abcam antibodies for UMOD
	Cloud-Clone Corp. Antibodies for UMOD
	ThermoFisher Antibodies for UMOD
	LSBio Antibodies in human, mouse, rat for UMOD

UMOD Assay Products:

	Browse Kits and Assays available from EMD Millipore
	OriGene Custom Assay Services for UMOD
	Browse R&D Systems for biochemical assays
	GenScript Custom Assay Services for UMOD
	Browse Enzo Life Sciences for kits & assays
	Cloud-Clone Corp. ELISAs for UMOD Cloud-Clone Corp. CLIAs for UMOD

(According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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Selected InterPro protein domains (see all 10):

IPR017977 ZP_dom_CS

IPR000742 EG-like_dom

IPR000152 EGF-type_Asp/Asn_hydroxyl_site

IPR018097 EGF_Ca-bd_CS

IPR024731 EGF_dom_MSP1-like

Graphical View of Domain Structure for InterPro Entry P07911

ProtoNet protein and cluster: P07911

3 Blocks protein domains:

IPB000152 Aspartic acid and asparagine hydroxylation site

IPB001507 Endoglin/CD105 antigen

IPB001881 EGF-like calcium-binding

UniProtKB/Swiss-Prot: UROM_HUMAN, P07911

Domain: The ZP domain is involved in the polymerization of the protein to promote the formation of complex

gel-like structure

Similarity: Contains 3 EGF-like domains

Similarity: Contains 1 ZP domain

UMOD for domains About GeneDecksing

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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Molecular Function:

UniProtKB/Swiss-Prot Summary: UROM_HUMAN, P07911

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 providing the water barrier permeability. May serve as a receptor for binding and endocytosis for

cytokines (IL-1, IL-2) and TNF. Facilitates neutrophil migration across renal epithelial

Function: Uromodulin, secreted form: Secreted into urine after proteolytically cleaveage. Into the urine, may

contribute to colloid osmotic pressure, retards passage of positively charged electrolytes, prevents urinary

tract infection and modulates formation of supersaturated salts and their crystals

Genatlas biochemistry entry for UMOD:

uromodulin,uromucoid,expressed in kidney,homolog to GP2

Gene Ontology (GO): 2 molecular function terms: About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005509	calcium ion binding	IEA	--
GO:0005515	protein binding	--	--

UMOD for ontologies About GeneDecksing

Phenotypes:
2 GenomeRNAi human phenotypes for UMOD:

Decreased viability with pacli

Increased gamma-H2AX phosphory

8 MGI mutant phenotypes (inferred from 3 alleles) (MGI details for Umod):

adipose tissue	growth/size/body	hematopoietic system	homeostasis/metabolism	immune system
other	renal/urinary system	skeleton

UMOD for phenotypes About GeneDecksing

Animal Models:
MGI mouse knock-outs for UMOD: Umod^tm1Xrw Umod^tm1Kuma

inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for UMOD

inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for UMOD

genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for UMOD

genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for UMOD

miRNA Products:		Block miRNA regulation of human, mouse, rat UMOD using miScript Target Protectors
		2 qRT-PCR Assays for microRNAs that regulate UMOD:
		hsa-miR-107 hsa-miR-103a
		SwitchGear 3'UTR luciferase reporter plasmid: UMOD 3' UTR sequence

Inhib. RNA Products:		OriGene RNAi products in human, mouse, rat for UMOD
		Predesigned siRNA for gene silencing in human, mouse, rat UMOD

Gene Editing
Products:

DNA2.0 Custom Protein Engineering Service for UMOD

Clone Products:		OriGene clones in human, mouse for UMOD (see all 11) OriGene ORF clones in mouse, rat for UMOD OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
		GenScript: all cDNA clones in your preferred vector (see all 2): UMOD (NM_001008389)
		Sino Biological Human cDNA Clone for UMOD
		DNA2.0 Custom Codon Optimized Gene Synthesis Service for UMOD
		Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat UMOD

Cell Line Products:		GenScript Custom overexpressing Cell Line Services for UMOD
		Browse ESI BIO Cell Lines and PureStem Progenitors for UMOD

In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for UMOD

(According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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Subcellular locations from UniProtKB/Swiss-Prot

UROM_HUMAN, P07911: Apical cell membrane; Lipid-anchor, GPI-anchor. Basolateral cell membrane; Lipid-anchor,

GPI-anchor. Cell projection, cilium membrane. Note=Only a small fraction is sort to the basolateral pole of

tubular epithelial cells compared to apical localization. Secreted into urine after cleavage. Colocalized with

NPHP1 and KIF3A

UROM_HUMAN, P07911: Uromodulin, secreted form: Secreted

Subcellular locations from COMPARTMENTS:

Compartment	Confidence
cytoskeleton	5
extracellular	5
plasma membrane	5
endoplasmic reticulum	2
golgi apparatus	2
cytosol	1
lysosome	1
nucleus	1

About this image

Gene Ontology (GO): Selected cellular component terms (see all 14): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0000922	spindle pole	IDA	--
GO:0005576	extracellular region	--	--
GO:0005615	extracellular space	IEA	--
GO:0005794	Golgi apparatus	IEA	--
GO:0016323	basolateral plasma membrane	IDA	7028707

UMOD for ontologies About GeneDecksing

(SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to ¹UniProtKB, ²MINT, ³I2D, and/or ⁴STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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SuperPaths for UMOD About

See pathways by source

SuperPath

Contained pathways About

Selected targets of HNF1

Selected targets of HNF1

Pathway & Disease-focused RT² Profiler PCR Array including UMOD:

Terminal Differentiation Markers in human mouse rat

Interactions:

GeneGlobe Interaction Network for UMOD

STRING Interaction Network Preview (showing 3 interactants - click image to see more details)

Selected Interacting proteins for UMOD (P07911³ ENSP00000306279⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 6)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
LTA	P01374³, ENSP00000403495⁴	I2D: score=3 STRING: ENSP00000403495
ENSG00000230279	P01374³	I2D: score=3
ENSG00000231408	P01374³	I2D: score=3
MMP8	P22894³, ENSP00000236826⁴	I2D: score=1 STRING: ENSP00000236826
IL1B	P01584³	I2D: score=1

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Gene Ontology (GO): Selected biological process terms (see all 9): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0006968	cellular defense response	TAS	2409603
GO:0007588	excretion	IEA	--
GO:0008285	negative regulation of cell proliferation	TAS	2409603
GO:0010033	response to organic substance	IEA	--
GO:0048878	chemical homeostasis	IEA	--

UMOD for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse compounds at ApexBio

Browse Tocris compounds for UMOD (UROM)

Selected Novoseek inferred chemical compound relationships for UMOD gene (see all 29) About this table

Compound	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
thps	90.1	8	17345077 (4), 7783702 (3)
tamm	85.4	8	12900848 (2), 12270772 (1), 17065110 (1), 7490460 (1) (see all 6)
calcium oxalate	82	55	7783702 (4), 10096372 (4), 12424489 (3), 15855216 (3) (see all 23)
uric acid	64.5	15	16861244 (4), 11007825 (1), 12629136 (1), 17629875 (1) (see all 10)
sialic acid	60.7	25	9352687 (4), 10460894 (3), 15637470 (2), 7664879 (1) (see all 13)
oxalate	50.4	3	15327412 (1), 11007825 (1), 17629875 (1)
creatinine	42.2	15	1488322 (1), 10572998 (1), 17616355 (1), 9650124 (1) (see all 10)
citrate	38.4	20	7771027 (4), 10096372 (3), 8285211 (2), 17629875 (2) (see all 9)
monosaccharide	37.8	3	10815984 (1), 10424459 (1)
slex	36.7	3	10770931 (3)

UMOD for compounds About GeneDecksing

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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REFSEQ mRNAs for UMOD gene (3 alternative transcripts):

NM_001008389.2 NM_001278614.1 NM_003361.3

Unigene Cluster for UMOD:

Uromodulin

Hs.654425 [show with all ESTs]

Unigene Representative Sequence: AK091961

15 Ensembl transcripts including schematic representations, and UCSC links where relevant:

ENST00000396134(uc002dhb.3) ENST00000396138(uc002dgz.3) ENST00000570689

ENST00000570331 ENST00000573567 ENST00000571174 ENST00000577168 ENST00000574195

ENST00000576688 ENST00000570757 ENST00000576546 ENST00000570972 ENST00000424589

ENST00000302509(uc002dha.3) ENST00000396142

Congresses - knowledge worth sharing:
European Congress of Clinical Microbiology and Infectious Diseases (ECCMID) 10 - 13 May 2014

miRNA Products:		Block miRNA regulation of human, mouse, rat UMOD using miScript Target Protectors
		2 qRT-PCR Assays for microRNAs that regulate UMOD:
		hsa-miR-107 hsa-miR-103a
		SwitchGear 3'UTR luciferase reporter plasmid: UMOD 3' UTR sequence

Inhib. RNA Products:		OriGene RNAi products in human, mouse, rat for UMOD
		Predesigned siRNA for gene silencing in human, mouse, rat UMOD

Clone Products:		OriGene clones in human, mouse for UMOD (see all 11) OriGene ORF clones in mouse, rat for UMOD OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
		GenScript: all cDNA clones in your preferred vector (see all 2): UMOD (NM_001008389)
		DNA2.0 Custom Codon Optimized Gene Synthesis Service for UMOD
		Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat UMOD

Primer Products:		OriGene qSTAR qPCR primer pairs in human, mouse for UMOD
		Pre-validated RT² qPCR Primer Assay in human, mouse, rat UMOD
		QuantiTect SYBR Green Assays in human, mouse, rat UMOD
		QuantiFast Probe-based Assays in human, mouse, rat UMOD

Additional mRNA sequence:

AK055722.1 AK091961.1 AK096043.1 AK127643.1 AK127648.1 BC035975.1 M15881.1 M17778.1

Selected DOTS entries (see all 37):

DT.120685796 DT.120685823 DT.95264795 DT.100020311 DT.107035 DT.120685818 DT.120685769 DT.120685856

DT.120685831 DT.120685825 DT.102827271 DT.120685783 DT.120685802 DT.101981138 DT.120685846 DT.100020313

DT.100754194 DT.120685844 DT.120685826 DT.70100028 DT.120685837 DT.120685810 DT.120685835 DT.120685843

Selected AceView cDNA sequences (see all 103):

M15881 BG430266 AI733047 BG428950 AI934416 AI700894 BX089145 AI768450

AI284347 BE466514 BE463493 BX109279 BE501786 AK096043 AI791538 AI791536

AW051962 AI640530 BG401615 AI625807 BG400435 AK091961 AI928388 AI566001

GeneLoc Exon Structure

Selected Alternative Splicing Database (ASD) splice patterns (SP) for UMOD (see all 13) About this scheme

ExUns:	1a	·	1b	·	1c	·	1d	^	2a	·	2b	·	2c	^	3a	·	3b	·	3c	^	4a	·	4b	·	4c	^	5a	·	5b	^	6a	·	6b	·	6c	·	6d	·	6e	·	6f	·	6g	^	7	^	8	^	9	^	10	^
SP1:																									-
SP2:																					-		-		-						-		-		-		-		-		-		-
SP3:																					-		-		-
SP4:
SP5:															-

ExUns:	11	^	12	^	13	^	14	^	15	^	16
SP1:	-
SP2:	-
SP3:	-
SP4:
SP5:

ECgene alternative splicing isoforms for UMOD

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE ¹MOPED, ²PaxDb, and ³MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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UMOD expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>^2/3
CGAP TAG: CTTTGTTCAG

About this image

UMOD expression in embryonic tissues and stem cells About this table

Data from LifeMap, the Embryonic Development and Stem Cells Database
selected tissues (see all 3) fully expand


Kidney (Urinary System) fully expand to see all 16 entries
Loop of Henle Cells Loop of Henle
Metanephros
Parietal epithelial cells (PEC)
Renal-like cells
kidney ; cells in tubules
visceral organ/metanephros/renal cortex

Epithelial Cells
Loop of Henle Cells Loop of Henle

Skeletal Muscle (Muscoskeletal System) fully expand to see all 2 entries
Muscle Progenitor Cells Mandibular Arch Muscles

UMOD Protein expression data from MOPED¹, PaxDb² and MaxQB³:

About this image

UMOD Protein Expression

SOURCE GeneReport for Unigene cluster: Hs.654425

UniProtKB/Swiss-Prot: UROM_HUMAN, P07911

Tissue specificity: 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. Most abundant protein in normal

urine

Pathway & Disease-focused RT² Profiler PCR Array including UMOD:

Terminal Differentiation Markers in human mouse rat

Primer Products:		OriGene qSTAR qPCR primer pairs in human, mouse for UMOD
		Pre-validated RT² qPCR Primer Assay in human, mouse, rat UMOD
		QuantiTect SYBR Green Assays in human, mouse, rat UMOD
		QuantiFast Probe-based Assays in human, mouse, rat UMOD

In Situ
Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for UMOD

(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD , ⁵MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or ⁶Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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This gene was present in the common ancestor of chordates.

Orthologs for UMOD gene from Selected species (see all 12) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
mouse (Mus musculus)	Mammalia	Umod^{1 , 5}	uromodulin^{1, 5}	79.52(n)¹ 77.96(a)¹		7 (63.88 cM)⁵ 22242¹ NM_001278605.1¹ NP_001265534.1¹ 119462866⁵
chicken (Gallus gallus)	Aves	ZPD⁶	Gallus gallus zona pellucida protein D (ZPD), mRNA...	24(a)	1 → many	11(520634-524598)
lizard (Anolis carolinensis)	Reptilia	--	Uncharacterized protein	52(a)	1 → many	GL343621.1(77126-92542)
tropical clawed frog (Xenopus tropicalis)	Amphibia	LOC101731733¹	uromodulin-like	54.3(n) 52.73(a)		101731733 XM_004918289.1 XP_004918346.1
zebrafish (Danio rerio)	Actinopterygii	si:ch73-181m17.1⁶ CABZ01048956.1⁶ (see all 22)	--	8(a) 8(a) (see all 22)	many ↔ many many ↔ many (see all 22)	12(40527745-40575215) ENSDARG00000097080 12(46994362-47010486) ENSDARG00000089465

ENSEMBL Gene Tree for UMOD (if available)
TreeFam Gene Tree for UMOD (if available)

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
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Paralogs for UMOD gene

GP2² OIT3²

13 SIMAP similar genes for UMOD using alignment to 11 protein entries: UROM_HUMAN (see all proteins):

GP2 DKFZp779K0533 UMODL1 FBN3 NELL2 SNED1

LTBP1 FBLN2 PROS1 NOTCH2 MEGF6 CD97

LTBP3

UMOD for paralogs About GeneDecksing

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, ⁴UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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SNP ID	Valid	Clinical significance	Chr 16 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs28934583^1,2,,4	C	Familial juvenile hyperuricemic nephropathy 1 (HNFJ1)⁴ pathogenic¹	20363175(-)	`AGACCC/TGCGTG`	4	R C	mis¹ ese³		0	--	--	--	--
rs28934582^1,2,,4	C	Familial juvenile hyperuricemic nephropathy 1 (HNFJ1)⁴ pathogenic¹	20363381(-)	`GCACTA/GTGAGT`	4	Y C	mis¹		0	--	--	--	--
rs28934584^1,2,,4	C	Medullary cystic kidney disease 2 (MCKD2)⁴ pathogenic¹	20363517(-)	`CGCCCG/TGTCTC`	4	G C	mis¹ ese³		0	--	--	--	--
VAR_025958⁴		Medullary cystic kidney disease 2 (MCKD2)⁴	--	see VAR_025958	2	C W	mis⁴		0	--	--	--	--
VAR_025959⁴		Familial juvenile hyperuricemic nephropathy 1 (HNFJ1)⁴	--	see VAR_025959	2	C Y	mis⁴		0	--	--	--	--
VAR_025952⁴		Familial juvenile hyperuricemic nephropathy 1 (HNFJ1)⁴	--	see VAR_025952	2	C R	mis⁴		0	--	--	--	--
VAR_025957⁴		Medullary cystic kidney disease 2 (MCKD2)⁴	--	see VAR_025957	2	T K	mis⁴		0	--	--	--	--
VAR_025960⁴		Familial juvenile hyperuricemic nephropathy 1 (HNFJ1)⁴	--	see VAR_025960	2	C G	mis⁴		0	--	--	--	--
VAR_025956⁴		Familial juvenile hyperuricemic nephropathy 1 (HNFJ1)⁴	--	see VAR_025956	2	C Y	mis⁴		0	--	--	--	--
VAR_025950⁴		Familial juvenile hyperuricemic nephropathy 1 (HNFJ1)⁴	--	see VAR_025950	2	C Y	mis⁴		0	--	--	--	--

HapMap Linkage Disequilibrium report for UMOD (20344373 - 20367623 bp)

Structural Variations
Database of Genomic Variants (DGV) 2 variations for UMOD: About this table

Variant ID	Type	Subtype	PubMed ID
nsv1759	CNV	Insertion	18451855
nsv436835	CNV	Insertion	17901297

Human Gene Mutation Database (HGMD): UMOD

Site Specific Mutation Identification with PCR Assays

SeqTarget long-range PCR primers for resequencing UMOD

DNA2.0 Custom Variant and Variant Library Synthesis for UMOD

(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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OMIM gene information: 191845
OMIM disorders: 162000 603860 609886
UniProtKB/Swiss-Prot: UROM_HUMAN, P07911

Familial juvenile hyperuricemic nephropathy 1 (HNFJ1) [MIM:162000]: 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. Note=The disease is caused by mutations affecting the

gene represented in this entry

Medullary cystic kidney disease 2 (MCKD2) [MIM:603860]: 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. Note=The

disease is caused by mutations affecting the gene represented in this entry

Glomerulocystic kidney disease with hyperuricemia and isosthenuria (GCKDHI) [MIM:609886]: 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. Note=The disease

is caused by mutations affecting the gene represented in this entry

Selected diseases for UMOD (see all 52):
About MalaCards

uromodulin-associated kidney disease umod-associated kidney disease familial juvenile hyperuricaemic nephropathy familial juvenile hyperuricemic nephropathy

glomerulocystic kidney disease with hyperuricemia and isosthenuria chronic pyelonephritis bacteriuria cystic kidney

hyperuricemia urinary tract obstruction pyelonephritis medullary cystic kidney disease type 1

kidney disease cystitis gout vesicoureteral reflux

end stage renal failure fibrous dysplasia nephrolithiasis nephrocalcinosis

3 diseases from the University of Copenhagen DISEASES database for UMOD:

Hyperuricemia Gout Kidney disease

UMOD for disorders About GeneDecksing

Selected Novoseek inferred disease relationships for UMOD gene (see all 45) About this table

Disease	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
hyperuricemic nephropathy, familial juvenile	97.6	35	15983957 (2), 18409514 (1), 12900848 (1), 19203555 (1) (see all 20)
medullary cystic kidney	95.7	25	15983957 (2), 11730273 (2), 12900848 (1), 12839032 (1) (see all 13)
cystic kidney disease	87.4	23	15983957 (2), 11730273 (2), 20172860 (2), 12900848 (1) (see all 11)
hyperuricaemic nephropathy	85.5	8	15589826 (2), 19465746 (2), 15575003 (1), 18651238 (1)
hyperuricemia	84.7	16	20151160 (2), 18409531 (2), 16861244 (1), 17065110 (1) (see all 11)
gout	76.2	6	20151160 (1), 17065110 (1), 19203555 (1), 16582687 (1)
renal stone	71.3	19	11007825 (2), 19145410 (2), 9352687 (1), 2008908 (1) (see all 12)
renal disease	66.6	58	8558842 (3), 20075439 (2), 11953407 (2), 15983957 (2) (see all 30)
tubulointerstitial nephritis	57.7	1	14520616 (1)
nephritis interstitial	57	3	10645146 (1), 10436264 (1), 15266028 (1)

GeneTests: UMOD
GeneReviews: UMOD
Genetic Association Database (GAD): UMOD
Human Genome Epidemiology (HuGE) Navigator: UMOD (12 documents)

Export disorders for UMOD gene to outside databases

(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶HMDB, ⁷DrugBank, ⁸UniProtKB/TrEMBL, ⁹ Novoseek, and/or ¹⁰fRNAdb)
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PubMed articles for UMOD gene, integrated from 10 sources (see all 270):
(articles sorted by number of sources associating them with UMOD)

Utopia: connect your pdf to the dynamic
world of online information

Uromodulin is expressed in renal primary cilia and UMOD mutations result in decreased ciliary uromodulin expression. (PubMed id 20172860)^{1, 2, 9} Zaucke F.... Wolf M.T. (Hum. Mol. Genet. 2010)
Mutations of the Uromodulin gene in MCKD type 2 patients cluster in exon 4, which encodes three EGF-like domains. (PubMed id 14531790)^{1, 2, 9} Wolf M.T.F.... Hildebrandt F. (Kidney Int. 2003)
Uromodulin levels associate with a common UMOD variant and risk for incident CKD. (PubMed id 19959715)^{1, 4, 9} KAPttgen A....Fox C.S. (J. Am. Soc. Nephrol. 2010)
Uromodulin (Tamm-Horsfall glycoprotein/uromucoid) is a phosphatidylinositol-linked membrane protein. (PubMed id 2249987)^{1, 2, 9} Rindler M.J.... Peraldi M.-N. (J. Biol. Chem. 1990)
Mutation analysis of the Uromodulin gene in 96 individuals with urinary tract anomalies (CAKUT). (PubMed id 18846391)^{1, 4, 9} Wolf M.T....Hildebrandt F. (Pediatr. Nephrol. 2009)
Allelism of MCKD, FJHN and GCKD caused by impairment of uromodulin export dynamics. (PubMed id 14570709)^{1, 2, 9} Rampoldi L.... Casari G. (Hum. Mol. Genet. 2003)
Renal manifestations of a mutation in the uromodulin (Tamm Horsfall protein) gene. (PubMed id 12900848)^{1, 2, 9} Bleyer A.J.... Hart T.C. (Am. J. Kidney Dis. 2003)
UROMODULIN mutations cause familial juvenile hyperuricemic nephropathy. (PubMed id 12629136)^{1, 2, 9} Turner J.J.O.... Thakker R.V. (J. Clin. Endocrinol. Metab. 2003)
Prothrombin haplotype associated with kidney stone disease in Northeastern Thai patients. (PubMed id 21067798)^{1, 4} Rungroj N....Yenchitsomanus P.T. (Urology 2011)
Bivariate genome-wide association analyses of femoral neck bone geometry and appendicular lean mass. (PubMed id 22087292)^{1, 4} Sun L....Deng H.W. (PLoS ONE 2011)

(in PubMed, OMIM, and NCBI Bookshelf)
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		AND	OR
Aliases
Disorders
Free Text

Query String		PubMed OMIM NCBI Bookshelf
	(Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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Entrez Gene: 7369	HGNC: 12559	AceView: UMOD	Ensembl:ENSG00000169344	euGenes: HUgn7369
ECgene: UMOD	H-InvDB: UMOD

(According to HUGE)
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(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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Name	Description
PharmGKB entry for UMOD	Pharmacogenomics, SNPs, Pathways
GeneReviews	http://www.ncbi.nlm.nih.gov/books/NBK1116/?term=UMOD[genesymbol]

Intellectual Property for UMOD gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

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Patent Information for UMOD gene:
Search GeneIP for patents involving UMOD

GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search

(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, and ESI BIO, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
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HYPERURICEMIA
Medullary cystic kidney
Cystitis
Pyelonephritis
Urolithiasis
Cystic Fibrosis
Polycystic Kidney Diseases
HYPERURICAEMIC NEPHROPATHY
Diabetes Mellitus
HYPERURICEMIC NEPHROPATHY, FAMILIAL JUVENILE
Nephritis Interstitial
Vesicoureteral Reflux
Bacteriuria
Calcification
UMOD-Related Kidney Disease
TUBULAR NECROSIS ACUTE
Obstruction
Carcinoma Renal Cell
Nephrolithiasis
OBSTRUCTIVE UROPATHY
RENAL STONE
Urinary Tract Diseases
Chronic pyelonephritis
Gout
RENAL DISEASE
Arthritis Gouty
Bartters syndrome
Inflammation
Carbohydrate-Deficient Glycoprotein Syndrome
reflux
Diabetic Nephropathies
Proteinuria
Cystic kidney disease
Cysts
MYELOMA
Renal Failure
Tubulointerstitial Nephritis
RENAL CYST
Tumors
Nephrocalcinosis
Glomerulonephritis
Necrosis
Lymphoblastic Leukemia Acute
Renal Failure Acute
Urinary Stones
Renal Failure Chronic

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