UMOD

GENERAL INFORMATION

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Gene name

UMOD

Gene description

Uromodulin

Protein class

Disease related genes
Plasma proteins
Predicted intracellular proteins
Predicted membrane proteins
Predicted secreted proteins

Predicted localization

Intracellular,Membrane,Secreted

Number of transcripts

12
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HUMAN PROTEIN ATLAS INFORMATION

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RNA tissue category

HPA:Tissue enriched (kidney)
GTEx:Tissue enriched (kidney)

Protein evidence

Evidence at protein level

Protein localization

Selective cytoplasmic expression in distal renal tubules.

ANTIBODY RELIABILITY

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Data reliability
description

Antibody staining consistent with RNA expression data.

Data reliability

Supportive based on 3 antibodies.
HPA043420 , HPA054721 , CAB009446
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RNA AND PROTEIN EXPRESSION SUMMARY

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RNA expression (FPKM) Protein expression (score)
Brain
Endocrine tissues
Bone marrow & immune system
Muscle tissues
Lung
Liver & gallbladder
Pancreas
Gastrointestinal tract
Kidney & urinary bladder
Male tissues
Female tissues
Adipose & soft tissue
Skin
Cerebral cortex

Lymph node

Liver

Colon

Kidney

Testis



PROTEIN EXPRESSION OVERVIEW

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Organ

Expression



RNA EXPRESSION OVERVIEW

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HPA dataset
RNA tissue category:  Tissue enriched (kidney)

Organ

Expression

GTEx dataset
RNA tissue category:  Tissue enriched (kidney)

Organ

Expression



GENE INFORMATION

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Gene name

UMOD

Synonyms

Description

Uromodulin (HGNC Symbol)

Entrez gene 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]

Chromosome

16

Cytoband

p12.3

Chromosome location (bp)

20333052 - 20356301

Protein evidence

Evidence at protein level (all genes)

Ensembl

ENSG00000169344 (version 78.38)

Entrez gene

7369

UniProt

P07911 (UniProt - Evidence at protein level)

neXtProt

NX_P07911

Antibodypedia

UMOD antibodies


PROTEIN BROWSER

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ENST00000302509
 
ENST00000396134
 
ENST00000396138
 
ENST00000570689
 
ENST00000570757
 
ENST00000570972
 
ENST00000571174
 
ENST00000573567
 
ENST00000574195
 
ENST00000576546
 
ENST00000576688
 
ENST00000577168
 
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PROTEIN INFORMATION

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Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

UMOD-001 ENSP00000379442
ENST00000396138
X6RBG4
Show all »
Show » Show » 689 75.7 No 2
UMOD-002 ENSP00000379438
ENST00000396134
P07911
Show all »
Show » Show » 673 73.6 Yes 1
UMOD-008 ENSP00000460548
ENST00000570689
P07911
Show all »
Show » Show » 640 69.8 Yes 1
UMOD-009 ENSP00000459738
ENST00000577168
I3L2K2
Show all »
Show » Show » 138 14.9 Yes 0
UMOD-011 ENSP00000458939
ENST00000571174
I3L1M3
Show all »
Show » Show » 125 13 Yes 0
UMOD-012 ENSP00000461641
ENST00000576688
I3L4Y6
Show all »
Show » Show » 103 10.8 Yes 0
UMOD-014 ENSP00000459724
ENST00000570757
I3L2J2
Show all »
Show » Show » 88 9.2 Yes 0
UMOD-015 ENSP00000458695
ENST00000570972
Q8NHW8
Show all »
Show » 29 3.1 No 0
UMOD-016 ENSP00000461120
ENST00000576546
I3L4B0
Show all »
Show » Show » 86 9.1 Yes 0
UMOD-017 ENSP00000460845
ENST00000574195
I3L3Z4
Show all »
Show » Show » 161 17.6 Yes 0
UMOD-018 ENSP00000460374
ENST00000573567
I3L3E0
Show all »
Show » Show » 161 17.1 Yes 0
UMOD-201 ENSP00000306279
ENST00000302509
P07911
Show all »
Show » Show » 640 69.8 Yes 1