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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

UMOD Gene

protein-coding GIFtS: 59
GCID: GC16M020344

uromodulin

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

Explore 51 diseases affiliated with
UMOD via

MalaCards

our new
Human Malady Compendium

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, and/or ¹⁰fRNAdb)
About This Section

Aliases
Uromodulin¹		HNFJ1² ⁵
Uromodulin (Uromucoid, Tamm-Horsfall Glycoprotein)¹ ²		MCKD2² ⁵
Tamm-Horsfall Urinary Glycoprotein² ³		HNFJ²
THP² ³		THGP²
ADMCKD2² ⁵		Tamm-Horsfall Glycoprotein²
FJHN² ⁵		Uromucoid¹

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:

This gene encodes uromodulin, the most abundant protein in normal urine. 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. Uromodulin may act as a constitutive inhibitor of calcium crystallization in renal

fluids. Excretion of uromodulin in urine may provide defense against urinary tract infections caused by uropathogenic

bacteria. Defects in this gene are associated with the autosomal dominant renal disorders medullary cystic kidney

disease-2 (MCKD2) and familial juvenile hyperuricemic nephropathy (FJHN). These disorders are characterized by

juvenile onset of hyperuricemia, gout, and progressive renal failure. While several transcript variants may exist for

this gene, the full-length natures of only two have been described to date. These two represent the major variants of

this gene and encode the same isoform. (provided by RefSeq, Jul 2008)

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)

(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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000016.9 NC_018927.1 NT_010393.16

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 ¹UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to ²PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
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

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

View neXtProt modification sites for NX_P07911

UMOD Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins (2 alternative transcripts):

NP_001008390.1 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: UMOD Browse OriGene Protein Over-expression Lysates 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
	ProSpec Recombinant Protein for UMOD
	Uscn 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
	Uscn Antibodies for UMOD
	Search ThermoFisher Antibodies for UMOD

Assay Products for UMOD:

	Browse Kits and Assays available from EMD Millipore
	OriGene Custom Immunoassay Development Browse OriGene Fluorogenic Cell Assay Kits
	Browse R&D Systems for biochemical assays
	GenScript Custom Assay Services for UMOD
	Browse Enzo Life Sciences for kits & assays
	Uscn ELISAs and CLIAs for UMOD

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

UMOD for domains About GeneDecksing

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

IPR017977 ZP_dom_CS

IPR001881 EGF-like_Ca-bd

IPR000742 EG-like_dom

IPR009030 Growth_fac_rcpt

IPR001507 ZP_dom

Graphical View of Domain Structure for InterPro Entry P07911

ProtoNet protein and cluster: P07911

3 Blocks protein families:

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

(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 Mar 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 - Customizable classic, inducible, and humanized mouse model solutions for UMOD

miRNA Products:		OriGene 3'-UTR Clone (see all 2): UMOD Browse MicroRNA Expression Plasmids
		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 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for UMOD (see all 7) OriGene shRNA RFP: UMOD OriGene siRNA: 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 Sirion Biotech Customized adenovirus for potent knockdown of UMOD

Clone Products:		Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
		OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for UMOD (see all 4) OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for UMOD (see all 2) 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)
		Browse Sino Biological Human cDNA Clones
		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 Sirion Biotech Customized inducible knockdown cell line services for UMOD Sirion Biotech Customized stable overexpressing cell line services for UMOD Sirion Biotech 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, 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 Mar 2013 via Entrez Gene).
About This Section

Unified GeneCards pathways About this table

See pathways by source

Super-pathway

contained gene-specific pathways

Selected targets of HNF1

Selected targets of HNF1

1.00

Pathway sources
See GeneCards unified pathways
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)

4 Interacting proteins for UMOD (P07911³ ENSP00000306279⁴) via UniProtKB, MINT, STRING, and/or I2D

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
LTA	P01374³, ENSP00000403495⁴	I2D: score=3 STRING: ENSP00000403495
MMP8	P22894³, ENSP00000236826⁴	I2D: score=1 STRING: ENSP00000236826
IL1B	P01584³	I2D: score=1
--	ENSP00000372793⁴	STRING: ENSP00000372793

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, 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
10/29 Novoseek 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 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
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 (2 alternative transcripts):

NM_001008389.1 NM_003361.2

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

miRNA Products:		OriGene 3'-UTR Clone (see all 2): UMOD Browse OriGene MicroRNA Expression Plasmids
		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 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for UMOD (see all 7) OriGene shRNA RFP: UMOD OriGene siRNA: 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 Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for UMOD (see all 4) OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for UMOD (see all 2) 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 genome-wide validated SYBR primer pairs in human, mouse, rat for UMOD Browse OriGene validated miRNA SYBR primer pairs
		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 cDNA sequence:

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

37 DOTS entries (see top 24):

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

DT.120685854 DT.120685773 DT.120685779 DT.120685816 DT.120685852 DT.120685786 DT.120685845 DT.120685772

DT.120685785 DT.120685830 DT.120685847 DT.120685848 DT.75101481

24/103 AceView cDNA sequences (see all 103):

BE463493 AI934416 AI768450 M15881 BG428950 AI640530 AI733047 AI700894

BX109279 AI284347 BE501786 AW051962 AI625807 AI791538 AK096043 BG401615

BE466514 AI791536 BX089145 BG430266 AW006836 AI793058 AI948705 BC035975

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)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: CTTTGTTCAG

About this image

UMOD expression in embryonic tissues and stem cells
Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine About this table

6 LifeMap In Vivo Development Anatomical Compartments/Cells

Tissue

Anatomical Compartment

Cell

Category (developmental path)

Kidney

Distal Tubule

Distal Tubule Cells

Selective marker (cell-identifying gene)

Kidney

Kidney

Kidney

Kidney

Kidney

Kidney

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

Stem Cell Differentiation: 3 LifeMap Cells

Name

Category

Parietal epithelial cells (PEC) (Adult Stem / Progenitor Cell)

Epithelium, Kidney

Renal-like cells (Derivation of renal-...)

Parietal epithelial cells (PEC) (Adult Stem / Progenitor Cell)

Epithelium, Kidney

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 genome-wide validated SYBR primer pairs in human, mouse, rat for UMOD Browse OriGene validated miRNA SYBR primer pairs
		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

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 2/12 species (see all 12) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
lizard (Anolis carolinensis)	Reptilia	--	--	55(a)	possible ortholog	GL343621.1(80661-89493)
zebrafish (Danio rerio)	Actinopterygii	CABZ01078124.1⁶ BX284640.2⁶ (see all 3)	--	4(a) 39(a) (see all 3)	possible ortholog 1 ↔ many (see all 3)	3(4400696-4433577) 1(55879044-55879346)

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

UMODL1² GP2² OIT3²

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

GP2 DKFZp779K0533 UMODL1 NELL2 SNED1 FBLN2

PROS1 CD97 LTBP3 MATN2 FBLN5

UMOD for paralogs About GeneDecksing

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, UniProtKB, 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	#	Pop	Total sample
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs28934584^1,2	C	pathogenic	18896964(-)	`CGCCCG/TGTCTC`	4	G C	mis¹ ese³		2	NA	4
rs28934583^1,2	C	probable-pathogenic	18896622(-)	`AGACCT/CGCGTG`	4	/R /C	mis¹ ese³		2	NA	4
rs28934582^1,2	C	probable-pathogenic	18896828(-)	`GCACTG/ATGAGT`	4	/Y /C	mis¹		2	NA	4
rs113468667^1,2	C	--	18881140(+)	`AAAAGG/AGAGAA`	2	--	ut3¹		2	CSA WA	120
rs111699931^1,2	C	--	18881166(+)	`ACAAAG/ACATGA`	2	--	ut3¹		2	NA	122
rs113852396^1,2		--	18881202(+)	`TGGCCC/AGCATC`	2	--	ut3¹		1	CSA	2
rs77999388^1,2	F	--	18881523(+)	`TCCTCC/TGGCAC`	2	--	int¹		1	WA	118
rs114985207^1,2	C,F	--	18882666(+)	`GCACAC/ACCTGG`	2	--	int¹		1	WA	118
rs111484604^1,2	C	--	18882815(+)	`AGATGG/TATCTT`	2	--	int¹		2	CSA WA	120
rs9935075^1,2	C,F,H	--	18883180(+)	`GCATAT/CCCTTT`	2	--	int¹		8	NS EA CSA WA	523

HapMap Linkage Disequilibrium report for UMOD (20344373 - 20367623 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV) variations for UMOD: --
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, 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

Defects in UMOD are the cause of familial juvenile hyperuricemic nephropathy type 1 (HNFJ1) [MIM:162000].

HNFJ1 is a renal disease characterized by juvenil onset of hyperuricemia, polyuria, progressive renal failure, and

gout. The disease is associated with interstitial pathological changes resulting in fibrosis

Defects in UMOD are the cause of medullary cystic kidney disease type 2 (MCKD2) [MIM:603860]. MCKD2 is 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

Defects in UMOD are the cause of glomerulocystic kidney disease with hyperuricemia and isosthenuria (GCKDHI)

[MIM:609886]. GCKDHI is 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

20/51 diseases for UMOD (see all 51): About MalaCards

familial juvenile hyperuricemic nephropathy hyperuricemic nephropathy cystic kidney hyperuricemia

kidney disease gout nephropathy familial juvenile hyperuricaemic nephropathy

urinary tract infection glomerulocystic kidney disease end stage renal failure vesicoureteral reflux

urinary tract obstruction renal tubular acidosis pre-eclampsia pyelonephritis

polycystic kidney disease chronic pyelonephritis bacteriuria urolithiasis

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

Hyperuricemia Kidney disease DOID:13189

10/45 Novoseek 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

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)
About This Section

PubMed articles for UMOD gene, integrated from 9 sources (see all 257):
(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 (Tamm-Horsfall glycoprotein/uromucoid) is a phosphatidylinositol-linked membrane protein. (PubMed id 2249987)^{1, 2, 9} Rindler M.J.... Peraldi M.-N. (1990)
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)
Urinary uromodulin carries an intact ZP domain generated by a conserved C-terminal proteolytic cleavage. (PubMed id 18375198)^{1, 2} Santambrogio S....Rampoldi L. (2008)
Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)^{1, 2} Ota T.... Sugano S. (2004)
The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)^{1, 2} Gerhard D.S....Malek J. (2004)
Mutations of the UMOD gene are responsible for medullary cystic kidney disease 2 and familial juvenile hyperuricaemic nephropathy. (PubMed id 12471200)^{1, 2} Hart T.C.... Bleyer A.J. (2002)

(in PubMed, OMIM, and NCBI Bookshelf)
About This Section

		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:
Search GeneIP for patents involving UMOD

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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Lymphoblastic Leukemia Acute
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