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UMOD Gene

protein-coding GIFtS: 59

GC16M018883

uromodulin
(Previous names: uromodulin (uromucoid, Tamm-Horsfall glycoprotein) )
Symbol approved by the HUGO Gene Nomenclature Committee (HGNC) database

		Products

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

Aliases & Descriptions
uromodulin¹ ²		HNFJ1² ⁵
uromodulin (uromucoid, Tamm-Horsfall glycoprotein)¹ ²		THGP²
Tamm-Horsfall urinary glycoprotein² ³		HNFJ²
THP² ³		uromucoid²
MCKD2² ⁵		Tamm-Horsfall glycoprotein²
ADMCKD2² ⁵		OTTHUMP00000162213²
FJHN² ⁵

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

Export aliases for UMOD gene to outside databases

Previous GC identifers: GC16P019829 GC16M019774 GC16M020271 GC16M020310 GC16M020251

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki,
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)

UniProtKB/Swiss-Prot: UROM_HUMAN, P07911

Function: Not known. May play a role in regulating the circulating activity of cytokines as it binds to IL-1, IL-2 and

TNF with high affinity

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 60), Regulatory elements and Epigenetics data according to Qiagen and/or SABiosciences)
About This Section

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the UMOD gene promoter:
         HNF-4alpha2   COUP-TF1   ER-alpha   C/EBPalpha   AREB6   Nkx2-2   NF-E2 p45   NF-E2   POU2F1   E47
         Other transcription factors

Search SABiosciences Chromatin IP Primers for UMOD

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays

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 gene densities for chromosome 16 GeneLoc Exon Structure

GeneLoc location for GC16M018883: view genomic region (about GC identifiers)

Start:	18,881,007 bp from pter
End:	18,900,693 bp from pter
Size:	19,687 bases
Orientation:	minus strand

1 alternative location:

Chr16- 20,344,373-20,364,037

RefSeq DNA sequence:

NC_000016.9 NT_010393.16

(According to ¹UniProtKB, neXtProt, and/or Ensembl, Phosphorylation sites according to ²Phosphosite, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from Millipore, Sigma-Aldrich, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, and/or ProSpec,
Biochemical Assays by Millipore, Sigma-Aldrich, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Dec 2010 and Entrez Gene, Antibodies by Millipore, Sigma-Aldrich, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, and/or Epitomics)
About This Section

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

Recommended Name: Uromodulin precursor

Size: 640 amino acids; 69761 Da

Subcellular location: Cell membrane; Lipid-anchor, GPI-anchor. Secreted. Note=Secreted after cleavage in the urine

Secondary accessions: Q540J6 Q6ZS84 Q8IYG0

Alternative splicing: 3 isoforms: P07911-1 P07911-2 P07911-3

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

REFSEQ proteins (2 alternative transcripts):

NP_001008390.1 NP_003352.2

ENSEMBL proteins:

ENSP00000379446 ENSP00000306279 ENSP00000379438 ENSP00000411922 ENSP00000416346 ENSP00000401418

ENSP00000379442

Human Recombinant Proteins

	Millipore Purified and/or Recombinant UMOD Protein
	Browse Human Recombinant Proteins at Sigma-Aldrich
	Browse R&D Systems for human recombinant proteins
	Browse recombinant and purified proteins available from Enzo Life Sciences
	Browse OriGene full length recombinant human proteins expressed in human HEK293 cells Browse OriGene Protein Over-expression Lysates
	GenScript Custom Purified and Recombinant Proteins Services for UMOD
	Novus Biologicals Proteins for UMOD
	Novus Biologicals Lysate for UMOD
	Browse Sino Biological Recombinant Proteins
	ProSpec Recombinant Protein for UMOD

5 Gene Ontology (GO) cellular component terms (GO ID links to tree view):

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005576	extracellular region	IEA	--
GO:0005886	plasma membrane	IEA	--
GO:0016324	apical plasma membrane	IDA	18025791
GO:0019898	extrinsic to membrane	TAS	7873609
GO:0031225	anchored to membrane	IEA	--

About this table

UMOD for ontologies About GeneDecksing

Antibodies for UMOD:

	Millipore Mono- and Polyclonal Antibodies for the study of UMOD
	Sigma-Aldrich Antibodies for UMOD
	R&D Systems Antibodies for UMOD (Uromodulin)
	Browse OriGene Antibodies
	GenScript Custom Superior Antibodies Services for UMOD
	Novus Biologicals Antibodies for UMOD
	Browse antibodies at Epitomics

Assays for UMOD:

	Browse Kits and Assays available from Millipore
	Browse ELISAs at Sigma-Aldrich
	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

5/11 InterPro domains/families (see all 11):

IPR017977 Endoglin/CD105_CS

IPR000742 EGF_3

IPR000152 EGF-type_Asp/Asn_hydroxyl_site

IPR018097 EGF_Ca-bd_CS

IPR006210 EGF-like

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

Similarity: Contains 3 EGF-like domains

Similarity: Contains 1 ZP domain

(According to UniProtKB, IUBMB,and/or Genatlas, Animal models from MGI Dec 24 2010,
shRNA from OriGene, Sigma-Aldrich, RNAi from Millipore, siRNAs from Sigma-Aldrich, OriGene, Qiagen, Super-pooled esiRNAs from Sigma-Aldrich, microRNA from Sigma-Aldrich, Qiagen, SABiosciences, Clones from Millipore, Sigma-Aldrich, OriGene, GenScript, Sino Biological, Cell Lines from GenScript, Ontologies according to Gene Ontology Consortium 01 Dec 2010 via Entrez Gene.)
About This Section

UniProtKB/Swiss-Prot: UROM_HUMAN, P07911

Function: Not known. May play a role in regulating the circulating activity of cytokines as it binds to IL-1, IL-2 and

TNF with high affinity

Inhib. RNA:		Browse for Gene Knock-down Tools from Millipore
		Browse Nano Scale siRNA at Sigma-Aldrich Sigma-Aldrich esiRNA and siRNA for UMOD Sigma-Aldrich shRNA for UMOD
		OriGene 29mer shRNA kits in GFP-retroviral vector (see all 2): UMOD OriGene shRNA RFP (see all 2): UMOD OriGene basic RS shRNA (see all 2): UMOD OriGene siRNA (see all 2): UMOD
		QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing of UMOD

miRNA:		Sigma-Aldrich microRNA Mimics for UMOD Browse microRNA target validation systems at Sigma-Aldrich
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of UMOD
		1 SABiosciences Assays for microRNA that regulate UMOD:
		hsa-miR-103

Gene
Editing:

Browse CompoZr Knockout ZFN at Sigma-Aldrich

Clones:		Browse Clones for the Expression of Recombinant Proteins Available from Millipore
		Browse iPSC Reprogramming Factors at Sigma-Aldrich
		OriGene GFP tagged cDNA clones in CMV expression vector (see all 2): UMOD OriGene Myc/DDK tagged cDNA clones in CMV expression vector (see all 2): UMOD OriGene untagged cDNA clones in CMV expression vector (see all 2): UMOD OriGene 3'-UTR clone (see all 2): UMOD Browse MicroRNA Expression Plasmids
		GenScript cDNA clones with any tag delivered in your preferred vector (see all 2): UMOD
		Browse Sino Biological Human cDNA Clones

Cell
Lines:

GenScript Custom overexpressing Cell Line Services for UMOD

Genatlas biochemistry entry for UMOD:

uromodulin,uromucoid,expressed in kidney,homolog to GP2

1 Gene Ontology (GO) molecular function term (GO ID links to tree view):

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

About this table

UMOD for ontologies About GeneDecksing

Animal Models: 6 MGI mutant phenotypes (inferred from 3 alleles) (MGI details for Umod):

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

UMOD for phenotypes About GeneDecksing

(Pathways according to Millipore, Cell Signaling Technology, Sigma-Aldrich, KEGG and/or UniProtKB, Sets of similar genes according to GeneDecks, PCR Arrays from SABiosciences, Proteins Network according to SABiosciences, Sigma-Aldrich, Interactions according to ¹UniProtKB, ²MINT, and/or ³STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Dec 2010 via Entrez Gene).
About This Section

UMOD for pathways About GeneDecksing

1 Millipore Pathway for UMOD

Selected targets of HNF1

SABiosciences Pathway-Focused PCR Array including UMOD: PAHS-048A

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

5/7 Gene Ontology (GO) biological process terms (GO ID links to tree view) (see all 7):

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0006968	cellular defense response	TAS	2409603
GO:0007588	excretion	--	--
GO:0008285	negative regulation of cell proliferation	TAS	2409603
GO:0048878	chemical homeostasis	--	--
GO:0072218	metanephric ascending thin limb development	--	--

About this table

UMOD for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, Sigma-Aldrich, Tocris Bioscience, and/or Novoseek and Drugs according to Enzo Life Sciences and/or PharmGKB)
About This Section

UMOD for compounds About GeneDecksing

Browse Small Molecules at Sigma-Aldrich

Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for UMOD
10/29 Novoseek chemical compound relationships for UMOD gene (see all 29)

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)

About this table

(GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 228 Homo sapiens; Dec 8 2010) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
non coding RNAs according to RNAdb,
ESTs according to GeneTide,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from Millipore,
siRNAs from Sigma-Aldrich, OriGene, Qiagen, Super-pooled esiRNAs from Sigma-Aldrich,
shRNA from Sigma-Aldrich, OriGene, microRNA from Sigma-Aldrich, Qiagen, SABiosciences,
Tagged/untagged cDNA clones from OriGene, Sigma-Aldrich, GenScript, Primers from OriGene and/or SABiosciences)
About This Section

Inhib. RNA:		Browse for Gene Knock-down Tools from Millipore
		Browse Nano Scale siRNA at Sigma-Aldrich Sigma-Aldrich esiRNA and siRNA for UMOD Sigma-Aldrich shRNA for UMOD
		OriGene 29mer shRNA kits in GFP-retroviral vector (see all 2): UMOD OriGene shRNA RFP (see all 2): UMOD OriGene basic RS shRNA (see all 2): UMOD OriGene siRNA (see all 2): UMOD
		QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing of UMOD

miRNA:		Sigma-Aldrich microRNA Mimics for UMOD Browse microRNA target validation systems at Sigma-Aldrich
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of UMOD
		1 SABiosciences Assays for microRNA that regulate UMOD:
		hsa-miR-103

Clones:		Browse FLAG tag genes at Sigma-Aldrich
		OriGene GFP tagged cDNA clones in CMV expression vector (see all 2): UMOD OriGene Myc/DDK tagged cDNA clones in CMV expression vector (see all 2): UMOD OriGene untagged cDNA clones in CMV expression vector (see all 2): UMOD OriGene 3'-UTR Clone (see all 2): UMOD Browse OriGene MicroRNA Expression Plasmids
		GenScript cDNA clones with any tag delivered in your preferred vector (see all 2): UMOD

Primers:		OriGene genome-wide validated SYBR primer pairs: UMOD Browse OriGene validated miRNA SYBR primer pairs
		SABiosciences RT² qPCR Primer Assay for UMOD: PPH12000A

REFSEQ mRNAs for UMOD gene (2 alternative transcripts):

NM_001008389.1 NM_003361.2

Additional cDNA 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.75101481 DT.120685826 DT.70100028 DT.120685837 DT.120685810 DT.120685835

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

AI791536 AI284347 AI791538 AI700894 AI768450 BG430266 BX089145 AI625807

BX109279 AW051962 BG401615 AI640530 M15881 BE463493 BG428950 AI934416

BE501786 AK096043 AI733047 BE466514 BG399042 AI948705 BG430866 BG401554

highest scoring ESTs for UMOD:

AK091961 AK127643 BC035975 BG399042 BG428950 BG432021 M15881 AA887440 AI492324 AI566001

Unigene Cluster for UMOD:

Uromodulin

Hs.654425 [show with all ESTs]

Unigene Representative Sequence: AK091961

GeneLoc Exon Structure

5/13 Alternative Splicing Database (ASD) splice patterns (SP) for UMOD (see all 13)

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:

About this scheme

ECgene alternative splicing isoforms for UMOD
7 Ensembl transcripts including schematic representations, and UCSC links where relevant:

ENST00000396142 ENST00000302509 ENST00000396134(uc002dhb.2) ENST00000423094

ENST00000424589 ENST00000429954 ENST00000396138(uc002dgz.2 uc002dha.2)

(Experimental results according to ¹GeneNote and GNF BioGPS,
probe sets-to-genes annotations according to ²GeneAnnot , ³GeneTide , Sets of similar genes according to GeneDecks, Electronic Northern calculations according to data from UniGene (Build 228 Homo sapiens), SAGE tags according to CGAP, plus additional links to SOURCE, and/or GNF BioGPS, and/or EXPOLDB, and/or UniProtKB,
Primers from OriGene and/or SABiosciences )
About This Section

UMOD expression in normal and diseased human tissues

¹ / ² / ³

4 probe-sets matching UMOD gene

Affymetrix probe-set	Array	# genes	Sensitivity	Specificity	Correlation	Length	Gb_Accession	Consensus	Uniqueness	Score	Rank
Affymetrix probe-set	Array	GeneAnnot data			GeneNote data		GeneTide data
37452_at²^{, 3}	U95-A	1	1.00	1.00	0.99	0.97	M15881	0.80	1.00	0.91	1
80094_at²^{, 3}	U95-E	1	0.94	1.00	0.99	1.03	AI566001	0.60	1.00	0.82	1
206716_at²^{, 3}	U133-A	1	1.00	1.00	--	--	NM_003361	0.60	1.00	0.82	1
206716_at²	U133Plus2	1	1.00	1.00	--	--	--	--	--	--	--

About this table

UMOD for expression About GeneDecksing

Data from Genenote (Publications) and GNF BioGPS
About these images

UMOD gene electronic northern expression

About these images

CGAP SAGE TAG: CTTTGTTCAG

SOURCE GeneReport for Unigene cluster: Hs.654425

Expression variation in blood from EXPOLDB for UMOD

UniProtKB/Swiss-Prot: UROM_HUMAN, P07911

Tissue specificity: Synthesized by kidney. Most abundant protein in normal human urine

Primers:		OriGene genome-wide validated SYBR primer pairs: UMOD Browse OriGene validated miRNA SYBR primer pairs
		SABiosciences RT² qPCR Primer Assay for UMOD: PPH12000A

SABiosciences Expression via Pathway-Focused PCR Array including UMOD: PAHS-048A

(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD and/or ⁵MGI Dec 24 2010, with possible further links to Flybase and/or WormBase, Gene Trees according to Ensembl)
About This Section

Orthologs for UMOD gene from 4 species

Organism	Gene	Locus	Description	Human Similarity	NCBI accessions
dog (Canis familiaris)	UMOD¹	--	uromodulin	84.95(n) 83.23(a)	403510 NM_001003003.1 NP_001003003.1
cow (Bos taurus)	UMOD¹	--	uromodulin	85.94(n) 84.2(a)	281567 NM_174213.2 NP_776638.1
rat (Rattus norvegicus)	Umod¹	--	uromodulin	79.56(n) 78.14(a)	25128 NM_017082.1 NP_058778.1
mouse (Mus musculus)	Umod^{1 , 5}	7 (63.88 cM)⁵	uromodulin^{1, 5}	79.31(n)¹ 77.12(a)¹	22242¹ NM_009470.2¹ NP_033496.1¹ AI465180⁵ AK085460⁵ (see all 12)

About this table Species with no ortholog for UMOD

ENSEMBL Gene Tree for UMOD (if available)

(Paralogs according to ¹HomoloGene
and ²Ensembl, Pseudogenes according to ³Pseudogene.org)
About This Section

Paralogs for UMOD gene

UMODL1² GP2² OIT3²

UMOD for paralogs About GeneDecksing

(SNPs according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, and UniProtKB, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Resequencing Primers from Qiagen)
About This Section

SNP ID	Valid	Chr 16 pos	Sequence	Recs	AA Chg	Type	More	Recs	Allele freq	Pop	Total sample	More
Genomic Data				Transcription Related Data				Allele Frequencies
			--	--	--		--	--
rs1123670^1,2	C,F,A,H,	20345615(+)	`tcaacA/Gaatat`	2	--	int¹		12		NS EA NA WA	730
rs1126652^1,2	--	20348660(-)	`ACCTGC/GACTGT`	4	H D	ref¹ mis¹		0	--	--	--	--
rs4293393^1,2	C,F,A,H,	20364588(-)	`ATGTCT/CGAACT`	2	--	ng5¹		13		NS EA MN NA WA	996
rs4486897^1,2	--	20345137(-)	`ctcagA/Gagatc`	2	--	int¹		0	--	--	--	--
rs4496152^1,2	H	20347649(-)	`TAGTAG/AATGTG`	2	--	int¹		4		NS EA	416
rs4506906^1,2	C,F,A,H,	20357398(-)	`tcaagC/Tttcag`	2	--	int¹		9		NS EA NA WA	548
rs4508425^1,2	C	20348026(-)	`TTCCGA/GAGTGG`	4	R	ref¹ syn¹ ese³		4		NS EA	416
rs4508426^1,2	--	20345138(-)	`cctcaA/Ggagat`	2	--	int¹		0	--	--	--	--
rs4635355^1,2	C,F,H,	20347156(-)	`tacagC/Tttggg`	2	--	int¹		11		NS EA NA WA	640
rs4780884^1,2	C,F,A,	20353127(+)	`CTTGCG/ATCCTG`	2	--	int¹		10		NS EA NA WA	542

About this table

HapMap Linkage Disequilibrium images for UMOD (up to first 250kb)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV) variations for UMOD: --

QIAGEN SeqTarget long-range PCR primers for resequencing UMOD

(in which this Gene is Involved, According to OMIM, UniProtKB, Novoseek, PharmGKB, Genatlas, GeneTests, Blood group antigen gene mutations by BGMUT, LSDB, HGMD, GAD, HuGE Navigator, and/or TGDB.)
About This Section

UMOD for disorders About GeneDecksing

OMIM: 191845 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

10/45 Novoseek disease relationships for UMOD gene (see all 45)

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)

About this table

GeneTests: UMOD

UMOD-Related Kidney Disease

Human Gene Mutation Database (HGMD): UMOD
Human Genome Epidemiology (HuGE) Navigator: UMOD (10 documents)

Export disorders and mutations for UMOD gene to outside databases

(Possibly Related Articles in Doctor's Guide)
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(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶UniProtKB/TrEMBL, and/or ⁷Novoseek)
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10/233 PubMed articles for UMOD gene, integrated from 7 sources (see all 233):
(articles sorted by number of sources associating them with UMOD)

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, 7} Wolf M.T.F.... Hildebrandt F. (2003)
Uromodulin (Tamm-Horsfall glycoprotein/uromucoid) is a phosphatidylinositol-linked membrane protein. (PubMed id 2249987)^{1, 2, 7} 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, 7} Rampoldi L.... Casari G. (2003)
Renal manifestations of a mutation in the uromodulin (Tamm Horsfall protein) gene. (PubMed id 12900848)^{1, 2, 7} Bleyer A.J.... Hart T.C. (2003)
UROMODULIN mutations cause familial juvenile hyperuricemic nephropathy. (PubMed id 12629136)^{1, 2, 7} Turner J.J.O.... Thakker R.V. (2003)
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)
Chromosomal assignment of the uromodulin gene (UMOD) to 16p13.11. (PubMed id 8382593)^{1, 3} Jeanpierre C....Junien C. (1993)
Identification of human uromodulin as the Tamm-Horsfall urinary glycoprotein. (PubMed id 3453112)^{1, 2} Pennica D.... Goeddel D.V. (1987)

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(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 ATLAS, HORDE, IMGT, MTDB, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
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Name	Description
GeneReviews	http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/UMOD

Intellectual Property for UMOD gene
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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
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UMOD-Related Kidney Disease
TUBULAR NECROSIS ACUTE
Obstruction
Carcinoma Renal Cell
Nephrolithiasis
OBSTRUCTIVE UROPATHY
RENAL STONE
Urinary Tract Diseases
Chronic pyelonephritis
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Inflammation
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reflux
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UMOD Gene

protein-coding GIFtS: 59

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