UMOD uromodulin [Homo sapiens (human)] - Gene

Summary

Official Symbol: UMODprovided by HGNC
Official Full Name: uromodulinprovided by HGNC
Primary source: HGNC:HGNC:12559
See related: Ensembl:ENSG00000169344 MIM:191845; AllianceGenome:HGNC:12559
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: THP; FJHN; HNFJ; THGP; HNFJ1; MCKD2; ADTKD1; ADMCKD2
Summary: The protein encoded by this gene is the most abundant protein in mammalian urine under physiological conditions. Its excretion in urine follows proteolytic cleavage of the ectodomain of its glycosyl phosphatidylinosital-anchored counterpart that is 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]
Expression: Restricted expression toward kidney (RPKM 990.9) See more
Orthologs: mouse all
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Genomic context

Location:: 16p12.3

Exon count:: 15

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	16	NC_000016.10 (20333051..20356301, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	16	NC_060940.1 (20264004..20287315, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	16	NC_000016.9 (20344373..20364037, complement)

Chromosome 16 - NC_000016.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

UROMODULIN - A LINK BETWEEN SODIUM EXCRETION AND ALTERATION IN CIRCADIAN BLOOD PRESSURE PATTERN IN PREHYPERTENSIVES.
Title: UROMODULIN - A LINK BETWEEN SODIUM EXCRETION AND ALTERATION IN CIRCADIAN BLOOD PRESSURE PATTERN IN PREHYPERTENSIVES.
The Versatile Role of Uromodulin in Renal Homeostasis and Its Relevance in Chronic Kidney Disease.
Title: The Versatile Role of Uromodulin in Renal Homeostasis and Its Relevance in Chronic Kidney Disease.
Healthy Women Have Higher Systemic Uromodulin Levels: Identification of Uromodulin as an Estrogen Responsive Gene.
Title: Healthy Women Have Higher Systemic Uromodulin Levels: Identification of Uromodulin as an Estrogen Responsive Gene.
Longitudinal effects of a common UMOD variant on kidney function, blood pressure, cognitive and physical function in older women and men.
Title: Longitudinal effects of a common UMOD variant on kidney function, blood pressure, cognitive and physical function in older women and men.
Kidney function may partially mediated the protective effect of urinary uromodulin on kidney stone.
Title: Kidney function may partially mediated the protective effect of urinary uromodulin on kidney stone.
A founder UMOD variant is a common cause of hereditary nephropathy in the British population.
Title: A founder UMOD variant is a common cause of hereditary nephropathy in the British population.
SPP1 and UMOD gene variants are synergistically associated with risk of renal stone disease.
Title: SPP1 and UMOD gene variants are synergistically associated with risk of renal stone disease.
Uromodulin and CKD: insight into variant pathogenicity.
Title: Uromodulin and CKD: insight into variant pathogenicity.
A UMOD variant with intermediate effects.
Title: A UMOD variant with intermediate effects.
Effect of a common UMOD variant on kidney function, blood pressure, cognitive and physical function in a community-based cohort of older adults.
Title: Effect of a common UMOD variant on kidney function, blood pressure, cognitive and physical function in a community-based cohort of older adults.

Submit: New GeneRIF Correction See all GeneRIFs (152)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Familial juvenile hyperuricemic nephropathy type 1 MedGen: C4551496 OMIM: 162000 GeneReviews: Autosomal Dominant Tubulointerstitial Kidney Disease -- UMOD	Compare labs

EBI GWAS Catalog

Description
Association of variants at UMOD with chronic kidney disease and kidney stones-role of age and comorbid diseases. EBI GWAS Catalog EBI GWAS CatalogPubMed
Bivariate genome-wide association analyses of femoral neck bone geometry and appendicular lean mass. EBI GWAS Catalog EBI GWAS CatalogPubMed
Common variants in UMOD associate with urinary uromodulin levels: a meta-analysis. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association study of blood pressure extremes identifies variant near UMOD associated with hypertension. EBI GWAS Catalog EBI GWAS CatalogPubMed
Meta-analysis identifies multiple loci associated with kidney function-related traits in east Asian populations. EBI GWAS Catalog EBI GWAS CatalogPubMed
Multiple loci associated with indices of renal function and chronic kidney disease. EBI GWAS Catalog EBI GWAS CatalogPubMed
New loci associated with kidney function and chronic kidney disease. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D16S3113 (e-PCR)
- UniSTS:65089

D16S401 (e-PCR), detects polymorphism
- UniSTS:77403

D16S500 (e-PCR)
- UniSTS:15759

D16S3036 (e-PCR)
- UniSTS:29087

D16S3217 (e-PCR)
- UniSTS:1443

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables IgG binding	IDA Inferred from Direct Assay more info	PubMed
enables calcium ion binding	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in ERAD pathway	IEA Inferred from Electronic Annotation more info
involved_in RNA splicing	IEA Inferred from Electronic Annotation more info
involved_in antibacterial innate immune response	IDA Inferred from Direct Assay more info	PubMed
involved_in apoptotic signaling pathway	IEA Inferred from Electronic Annotation more info
involved_in autophagy	IEA Inferred from Electronic Annotation more info
involved_in cellular defense response	TAS Traceable Author Statement more info	PubMed
involved_in cellular response to unfolded protein	IEA Inferred from Electronic Annotation more info
involved_in chaperone-mediated protein folding	IEA Inferred from Electronic Annotation more info
involved_in citric acid secretion	IEA Inferred from Electronic Annotation more info
involved_in collecting duct development	IEA Inferred from Electronic Annotation more info
involved_in connective tissue replacement	IEA Inferred from Electronic Annotation more info
involved_in defense response to Gram-negative bacterium	IDA Inferred from Direct Assay more info	PubMed
involved_in endoplasmic reticulum organization	IEA Inferred from Electronic Annotation more info
involved_in glomerular filtration	IEA Inferred from Electronic Annotation more info
involved_in heterophilic cell-cell adhesion via plasma membrane cell adhesion molecules	IDA Inferred from Direct Assay more info	PubMed
involved_in inflammatory response	IEA Inferred from Electronic Annotation more info
involved_in intracellular calcium ion homeostasis	IEA Inferred from Electronic Annotation more info
involved_in intracellular chloride ion homeostasis	IEA Inferred from Electronic Annotation more info
involved_in intracellular phosphate ion homeostasis	IEA Inferred from Electronic Annotation more info
involved_in intracellular sodium ion homeostasis	IEA Inferred from Electronic Annotation more info
involved_in juxtaglomerular apparatus development	IEA Inferred from Electronic Annotation more info
involved_in leukocyte cell-cell adhesion	IDA Inferred from Direct Assay more info	PubMed
involved_in lipid metabolic process	IEA Inferred from Electronic Annotation more info
involved_in metanephric ascending thin limb development	IEA Inferred from Electronic Annotation more info
involved_in metanephric distal convoluted tubule development	IEA Inferred from Electronic Annotation more info
involved_in metanephric thick ascending limb development	IEA Inferred from Electronic Annotation more info
involved_in micturition	IEA Inferred from Electronic Annotation more info
involved_in multicellular organismal response to stress	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of cell population proliferation	TAS Traceable Author Statement more info	PubMed
involved_in neutrophil migration	IBA Inferred from Biological aspect of Ancestor more info
involved_in neutrophil migration	IDA Inferred from Direct Assay more info	PubMed
involved_in organ or tissue specific immune response	IEA Inferred from Electronic Annotation more info
involved_in potassium ion homeostasis	IEA Inferred from Electronic Annotation more info
involved_in protein localization to vacuole	IEA Inferred from Electronic Annotation more info
involved_in protein transport into plasma membrane raft	IEA Inferred from Electronic Annotation more info
involved_in regulation of blood pressure	IEA Inferred from Electronic Annotation more info
involved_in regulation of protein transport	IEA Inferred from Electronic Annotation more info
involved_in regulation of urine volume	IEA Inferred from Electronic Annotation more info
involved_in renal sodium ion absorption	IEA Inferred from Electronic Annotation more info
involved_in renal urate salt excretion	IEA Inferred from Electronic Annotation more info
involved_in renal water homeostasis	IEA Inferred from Electronic Annotation more info
involved_in response to lipopolysaccharide	IEA Inferred from Electronic Annotation more info
involved_in response to water deprivation	IEA Inferred from Electronic Annotation more info
involved_in response to xenobiotic stimulus	IEA Inferred from Electronic Annotation more info
involved_in tumor necrosis factor-mediated signaling pathway	IEA Inferred from Electronic Annotation more info
involved_in urate transport	IEA Inferred from Electronic Annotation more info
involved_in urea transmembrane transport	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in Golgi lumen	TAS Traceable Author Statement more info
is_active_in apical plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in apical plasma membrane	IDA Inferred from Direct Assay more info	PubMed
located_in basolateral plasma membrane	IDA Inferred from Direct Assay more info	PubMed
is_active_in cell surface	IBA Inferred from Biological aspect of Ancestor more info
located_in ciliary membrane	IEA Inferred from Electronic Annotation more info
located_in cilium	IDA Inferred from Direct Assay more info	PubMed
located_in endoplasmic reticulum	IEA Inferred from Electronic Annotation more info
located_in extracellular exosome	HDA more info	PubMed
is_active_in extracellular space	IBA Inferred from Biological aspect of Ancestor more info
located_in extrinsic component of membrane	TAS Traceable Author Statement more info	PubMed
located_in membrane	IDA Inferred from Direct Assay more info	PubMed
located_in side of membrane	IEA Inferred from Electronic Annotation more info
located_in spindle pole	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: uromodulin

Names: Tamm-Horsfall urinary glycoprotein; uromucoid

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_008151.1 RefSeqGene

Range

5001..24665

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001008389.3 → NP_001008390.1 uromodulin isoform a preproprotein

See identical proteins and their annotated locations for NP_001008390.1

Status: REVIEWED

Description

Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1, 2, 4, and 5 all encode the same isoform (a).

Source sequence(s)

AK091961, BF593229, DA634392, M17778

Consensus CDS

CCDS10583.1

UniProtKB/Swiss-Prot

B3KP48, B3KRN9, E9PEA4, P07911, Q540J6, Q6ZS84, Q8IYG0

UniProtKB/TrEMBL

X6RBG4

Related

ENSP00000460548.1, ENST00000570689.5

Conserved Domains (4) summary

smart00179
Location:108 → 149

EGF_CA; Calcium-binding EGF-like domain

smart00241
Location:334 → 583

ZP; Zona pellucida (ZP) domain

pfam07645
Location:65 → 103

EGF_CA; Calcium-binding EGF domain

pfam12947
Location:35 → 63

EGF_3; EGF domain
NM_001278614.2 → NP_001265543.1 uromodulin isoform b preproprotein

Status: REVIEWED

Description

Transcript Variant: This variant (3) includes an additional in-frame exon in the 5' coding region, compared to variant 1, resulting in an isoform (b) that is longer than isoform a.

Source sequence(s)

AK091961, BF593229, DA634392, M17778

Consensus CDS

CCDS61876.1

UniProtKB/TrEMBL

X6RBG4

Related

ENSP00000379438.2, ENST00000396134.6

Conserved Domains (5) summary

smart00179
Location:141 → 182

EGF_CA; Calcium-binding EGF-like domain

smart00241
Location:367 → 616

ZP; Zona pellucida (ZP) domain

pfam00100
Location:496 → 616

Zona_pellucida; Zona pellucida-like domain

pfam07645
Location:98 → 136

EGF_CA; Calcium-binding EGF domain

pfam12947
Location:68 → 96

EGF_3; EGF domain
NM_001378232.1 → NP_001365161.1 uromodulin isoform a preproprotein

Status: REVIEWED

Description

Transcript Variant: This variant (4), as well as variants 1, 2, and 5, encodes isoform a.

Source sequence(s)

AC106796

Consensus CDS

CCDS10583.1

UniProtKB/Swiss-Prot

B3KP48, B3KRN9, E9PEA4, P07911, Q540J6, Q6ZS84, Q8IYG0

UniProtKB/TrEMBL

X6RBG4

Conserved Domains (4) summary

smart00179
Location:108 → 149

EGF_CA; Calcium-binding EGF-like domain

smart00241
Location:334 → 583

ZP; Zona pellucida (ZP) domain

pfam07645
Location:65 → 103

EGF_CA; Calcium-binding EGF domain

pfam12947
Location:35 → 63

EGF_3; EGF domain
NM_001378233.1 → NP_001365162.1 uromodulin isoform a preproprotein

Status: REVIEWED

Description

Transcript Variant: This variant (5), as well as variants 1, 2, and 4, encodes isoform a.

Source sequence(s)

AC106796

Consensus CDS

CCDS10583.1

UniProtKB/Swiss-Prot

B3KP48, B3KRN9, E9PEA4, P07911, Q540J6, Q6ZS84, Q8IYG0

UniProtKB/TrEMBL

X6RBG4

Conserved Domains (4) summary

smart00179
Location:108 → 149

EGF_CA; Calcium-binding EGF-like domain

smart00241
Location:334 → 583

ZP; Zona pellucida (ZP) domain

pfam07645
Location:65 → 103

EGF_CA; Calcium-binding EGF domain

pfam12947
Location:35 → 63

EGF_3; EGF domain
NM_001378234.1 → NP_001365163.1 uromodulin isoform c preproprotein

Status: REVIEWED

Description

Transcript Variant: This variant (6), as well as variant 7, encodes isoform c.

Source sequence(s)

AC106796

UniProtKB/TrEMBL

X6RBG4

Conserved Domains (4) summary

smart00179
Location:108 → 149

EGF_CA; Calcium-binding EGF-like domain

smart00241
Location:334 → 630

ZP; Zona pellucida (ZP) domain

pfam07645
Location:65 → 103

EGF_CA; Calcium-binding EGF domain

pfam12947
Location:35 → 63

EGF_3; EGF domain
NM_001378235.1 → NP_001365164.1 uromodulin isoform c preproprotein

Status: REVIEWED

Description

Transcript Variant: This variant (7), as well as variant 6, encodes isoform c.

Source sequence(s)

AC106796

UniProtKB/TrEMBL

X6RBG4

Conserved Domains (4) summary

smart00179
Location:108 → 149

EGF_CA; Calcium-binding EGF-like domain

smart00241
Location:334 → 630

ZP; Zona pellucida (ZP) domain

pfam07645
Location:65 → 103

EGF_CA; Calcium-binding EGF domain

pfam12947
Location:35 → 63

EGF_3; EGF domain
NM_001378237.1 → NP_001365166.1 uromodulin isoform d preproprotein

Status: REVIEWED

Source sequence(s)

AC106796

Conserved Domains (3) summary

pfam07645
Location:65 → 103

EGF_CA; Calcium-binding EGF domain

pfam12947
Location:120 → 148

EGF_3; EGF domain

cl27758
Location:334 → 443

Zona_pellucida; Zona pellucida-like domain
NM_003361.4 → NP_003352.2 uromodulin isoform a preproprotein

See identical proteins and their annotated locations for NP_003352.2

Status: REVIEWED

Description

Transcript Variant: This variant (1) encodes isoform a. Variants 1, 2, 4, and 5 all encode the same isoform (a).

Source sequence(s)

AC106796

Consensus CDS

CCDS10583.1

UniProtKB/Swiss-Prot

B3KP48, B3KRN9, E9PEA4, P07911, Q540J6, Q6ZS84, Q8IYG0

UniProtKB/TrEMBL

X6RBG4

Related

ENSP00000379442.5, ENST00000396138.9

Conserved Domains (4) summary

smart00179
Location:108 → 149

EGF_CA; Calcium-binding EGF-like domain

smart00241
Location:334 → 583

ZP; Zona pellucida (ZP) domain

pfam07645
Location:65 → 103

EGF_CA; Calcium-binding EGF domain

pfam12947
Location:35 → 63

EGF_3; EGF domain

RNA

NR_165456.1 RNA Sequence

Status: REVIEWED

Source sequence(s)

AC106796

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000016.10 Reference GRCh38.p14 Primary Assembly

Range

20333051..20356301 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_011545938.1 → XP_011544240.1 uromodulin isoform X1

See identical proteins and their annotated locations for XP_011544240.1

UniProtKB/TrEMBL

X6RBG4

Conserved Domains (4) summary

smart00179
Location:108 → 149

EGF_CA; Calcium-binding EGF-like domain

smart00241
Location:334 → 630

ZP; Zona pellucida (ZP) domain

pfam07645
Location:65 → 103

EGF_CA; Calcium-binding EGF domain

pfam12947
Location:35 → 63

EGF_3; EGF domain
XM_011545937.1 → XP_011544239.1 uromodulin isoform X1

See identical proteins and their annotated locations for XP_011544239.1

UniProtKB/TrEMBL

X6RBG4

Conserved Domains (4) summary

smart00179
Location:108 → 149

EGF_CA; Calcium-binding EGF-like domain

smart00241
Location:334 → 630

ZP; Zona pellucida (ZP) domain

pfam07645
Location:65 → 103

EGF_CA; Calcium-binding EGF domain

pfam12947
Location:35 → 63

EGF_3; EGF domain
XM_024450433.2 → XP_024306201.1 uromodulin isoform X1

UniProtKB/TrEMBL

X6RBG4

Conserved Domains (4) summary

smart00179
Location:108 → 149

EGF_CA; Calcium-binding EGF-like domain

smart00241
Location:334 → 630

ZP; Zona pellucida (ZP) domain

pfam07645
Location:65 → 103

EGF_CA; Calcium-binding EGF domain

pfam12947
Location:35 → 63

EGF_3; EGF domain