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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

UMOD Gene

protein-coding GIFtS: 63
GCID: GC16M020344

Uromodulin

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

Microbiology & Infectious Diseases Congress

46 related diseases
at

MalaCards

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, ¹⁰fRNAdb, ¹²H-InvDB, ¹³NCBI, ¹⁴NONCODE, and/or ¹⁵RNAdb)
About This Section

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, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

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 familial juvenile hyperuricemic nephropathy, and cystic kidney. 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000016.9 NT_010393.16 NC_018927.2

Regulatory elements:

SABiosciences 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 SABiosciences Chromatin IP Primers for UMOD

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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 UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE ¹MOPED, ²PaxDb, and ³MAXQB 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., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: UROM_HUMAN, P07911 (See protein sequence)

Recommended Name: Uromodulin precursor

Size: 640 amino acids; 69761 Da

Subcellular location: 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

Subcellular location: Uromodulin, secreted form: Secreted

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:

UniProtKB: 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)

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

urine

View neXtProt modification sites for NX_P07911

UMOD Protein expression data from MOPED¹, PaxDb² and MAXQB³ : About this image

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

Human Recombinant Protein Products for UMOD:

	EMD Millipore Purified and/or Recombinant UMOD Protein
	Browse R&D Systems for human recombinant proteins
	Browse recombinant and purified proteins available from Enzo Life Sciences
	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

Gene Ontology (GO): 5/13 cellular component terms (GO ID links to tree view) (see all 13): 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

UMOD Antibody Products:

	EMD Millipore Mono- and Polyclonal Antibodies for the study of UMOD
	R&D Systems Antibodies for UMOD (Uromodulin)
	Browse OriGene Antibodies OriGene Custom Antibody Services for UMOD
	GenScript Custom Superior Antibodies 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

Assay Products for UMOD:

	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)
About This Section

5/10 InterPro protein domains (see all 10):

IPR017977 ZP_dom_CS

IPR001881 EGF-like_Ca-bd

IPR000742 EG-like_dom

IPR009030 Growth_fac_rcpt_N_dom

IPR001507 ZP_dom

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,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, Sirion Biotech, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, Sirion Biotech, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
About This Section

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 (GO ID links to tree view): 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	hematopoietic system	homeostasis/metabolism	immune system
other	renal/urinary system	skeleton

UMOD for phenotypes About GeneDecksing

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

inGenious Targeting Laboratory - Custom generated mouse model solutions for UMOD

inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for UMOD

miRNA Products:
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat UMOD
		2 QIAGEN miScript miRNA 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:		Browse for Gene Knock-down Tools from EMD Millipore
		OriGene RNAi products in human, mouse, rat for UMOD
		QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat UMOD
		Sirion Biotech Custom design and validation of potent shRNA sequences against UMOD

Gene Editing Products:			DNA2.0 Custom Protein Engineering Service for UMOD
			Sirion Biotech Customized adenovirus for overexpression of UMOD Customized adenovirus for potent knockdown of UMOD

Clone Products:		Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
		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
		Search LifeMap BioReagents cell lines for UMOD
		Sirion Biotech Customized stable knockdown cell line services for UMOD Customized inducible knockdown cell line services for UMOD Customized stable overexpressing cell line services for UMOD Customized inducible overexpressing cell line services for UMOD

In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for UMOD

(Pathways according to EMD Millipore, 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 SABiosciences, 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 Oct 2013 via Entrez Gene).
About This Section

SuperPaths for UMOD About

See pathways by source

SuperPath

Contained pathways About

Selected targets of HNF1

Selected targets of HNF1

Pathways by source See SuperPaths
Show all pathways

1 EMD Millipore Pathway for UMOD

Selected targets of HNF1

UMOD for pathways About GeneDecksing

Interactions:

SABiosciences Gene Network Central^TM Interacting Genes and Proteins Network for UMOD

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

5/6 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

About this table

Gene Ontology (GO): 5/9 biological process terms (GO ID links to tree view) (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 HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, IUPHAR, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section

UMOD for compounds About GeneDecksing

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for UMOD (UROM)

10/29 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)

Search CenterWatch for drugs/clinical trials and news about UMOD / UROM

(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,
RNAi Products from EMD Millipore,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, Sirion Biotech, microRNA from QIAGEN,
Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

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:
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat UMOD
		2 QIAGEN miScript miRNA 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:		Browse for Gene Knock-down Tools from EMD Millipore
		OriGene RNAi products in human, mouse, rat for UMOD
		QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat UMOD
		Sirion Biotech Custom design and validation of potent shRNA sequences against 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
		SABiosciences RT² qPCR Primer Assay in human, mouse, rat UMOD
		QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat UMOD
		QIAGEN 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

24/37 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

24/103 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

5/13 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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

UMOD expression in normal human tissues (normalized intensities) UMOD embryonic expression: see
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

5/2 selected tissues (see all 2) fully expand (Gastrointestinal Tract) fully expand to see all 3 entries


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 (Derivation of renal-like cells from mouse embryonic stem cells)
kidney ; cells in tubules
visceral organ/metanephros/renal medulla

Lower Urinary Tract (Urinary System) fully expand to see all 8 entries
visceral organ
small intestine ; glandular cells

See UMOD Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for UMOD

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

SABiosciences Expression via Pathway-Focused PCR Array including UMOD:

Terminal Differentiation Markers in human mouse rat

Primer Products:		OriGene qSTAR qPCR primer pairs in human, mouse for UMOD
		SABiosciences RT² qPCR Primer Assay in human, mouse, rat UMOD
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		QIAGEN 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)
About This Section

This gene was present in the common ancestor of chordates.

Orthologs for UMOD gene from 2/9 species (see all 9) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
mouse (Mus musculus)	Mammalia	Umod^{1 , 5}	uromodulin^{1, 5}	79.31(n)¹ 77.12(a)¹		7 (63.88 cM)⁵ 22242¹ NM_009470.4¹ NP_033496.1¹ 119462866⁵
lizard (Anolis carolinensis)	Reptilia	--	--	51(a)	1 → many	GL343621.1(77126-92542)

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)
About This Section

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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section

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
				--	--	--		--	--
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	--	--	--	--
VAR_025961⁴		Glomerulocystic kidney disease with hyperuricemia and isosthenuria (GCKDHI)⁴	--	see VAR_025961	2	C R	mis⁴		0	--	--	--	--
VAR_025953⁴		Familial juvenile hyperuricemic nephropathy 1 (HNFJ1)⁴	--	see VAR_025953	2	N S	mis⁴		0	--	--	--	--
rs28934583^1,2,4	C	Familial juvenile hyperuricemic nephropathy 1 (HNFJ1)⁴ pathogenic¹	20363175(-)	`AGACCC/TGCGTG`	4	R C	mis¹ ese³		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

SABiosciences Cancer Mutation PCR Assays

QIAGEN SeqTarget long-range PCR primers in human, mouse, rat 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.)
About This Section

UMOD for disorders           About GeneDecksing

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

20/46 diseases for UMOD (see all 46): About MalaCards

familial juvenile hyperuricemic nephropathy cystic kidney hyperuricemia umod-associated kidney disease

bacteriuria familial juvenile hyperuricaemic nephropathy chronic pyelonephritis pyelonephritis

kidney disease gout cystitis urinary tract obstruction

vesicoureteral reflux end stage renal failure fibrous dysplasia nephrolithiasis

nephrocalcinosis renal dysplasia fabry disease newcastle disease

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

Hyperuricemia Gout Kidney disease

10/45 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

UMOD-Related Kidney Disease

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 9 sources (see all 266):
(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 UM OD mutations result in decreased ciliary uromodulin expression. (PubMed id 20172860)^{1, 2, 9} Zaucke F....Wolf M.T. (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. (2003)
Uromodulin levels associate with a common UMOD varian t and risk for incident CKD. (PubMed id 19959715)^{1, 4, 9} KAPttgen A....Fox C.S. (2010)
Uromodulin (Tamm-Horsfall glycoprotein/uromucoid) is a phosphatidylinositol-linked membrane protein. (PubMed id 2249987)^{1, 2, 9} Rindler M.J.... Peraldi M.-N. (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. (2008)
Allelism of MCKD, FJHN and GCKD caused by impairment of uromodulin export dynamics. (PubMed id 14570709)^{1, 2, 9} Rampoldi L.... Casari G. (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. (2003)
UROMODULIN mutations cause familial juvenile hyperuricemic nephropathy. (PubMed id 12629136)^{1, 2, 9} Turner J.J.O.... Thakker R.V. (2003)
Bivariate genome-wide association analyses of femoral neck bone geometry and appendicular lean mass. (PubMed id 22087292)^{1, 4} Sun L....Deng H.W. (2011)
New loci associated with kidney function and chronic kidney disease. (PubMed id 20383146)^{1, 4} KAPttgen A....Fox C.S. (2010)

(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)
About This Section

Entrez Gene: 7369	HGNC: 12559	AceView: UMOD	Ensembl:ENSG00000169344	euGenes: HUgn7369
ECgene: UMOD	H-InvDB: UMOD

(According to HUGE)
About This Section

(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section

Name	Description
PharmGKB entry for UMOD	Pharmacogenomics, SNPs, Pathways
GeneReviews	http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/UMOD

Intellectual Property for UMOD gene
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Patent Information for UMOD gene:
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GeneCards and IP:
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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
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Nephrocalcinosis
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Lymphoblastic Leukemia Acute
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Urinary Stones
Renal Failure Chronic

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