Umod
Gene Detail

Symbol Name ID

Umod uromodulin MGI:102674

Synonyms

Tamm-Horsfall glycoprotein, THP, urehr4, uromucoid

Feature Type

protein coding gene

Genetic Map

Chromosome 7

63.88 cM, cytoband F1-F2
Detailed Genetic Map ± 1 cM


Mapping data(6)

Sequence Map

Chr7:119462866-119479255 bp, - strand From NCBI annotation of GRCm38   16390 bp   ±  kb flank VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer

Mouse Genome Browser

Vertebrate homology

HomoloGene:2522  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 rhesus macaque; 1 cattle; 1 dog

Protein SuperFamily: uromodulin
Gene Tree: Umod

Human homologs

Human Homolog		UMOD, uromodulin
NCBI Gene ID		7369
neXtProt AC		NX_P07911
Human Synonyms		ADMCKD2, FJHN, HNFJ, HNFJ1, MCKD2, THGP, THP
Human Chr (Location)		16p12.3; chr16:20344373-20364037 (-)  GRCh37.p10
Disease Associations		(3) Diseases Associated with Human UMOD

Alleles and phenotypes

All alleles(4) : Targeted(3) Chemically induced(1)
 

Homozygous inactivation of this gene causes renal dysfunction and increased susceptibility to bladder infection, and may lead to renal calcinosis and stone formation. Homozygotes for an ENU-induced allele exhibit renal dysfunction and alterations in urea handling, energy, bone, and lipid metabolism.

 
Human Diseases Modeled Using Mouse Umod (2)    Alleles Annotated to Human Diseases(1)   

Gene Ontology (GO) classifications

All GO classifications: (20 annotations)

Process	chemical homeostasis, excretion, ...
Component	anchored to membrane, apical part of cell, ...
Function	calcium ion binding

External Resources: FuncBase

Expression

Literature Summary: (28 records)
Data Summary: Results (238)    Tissues (120)    Images (9)
Theiler Stages: 23, 25, 26, 28

Assay Type	Results
Immunohistochemistry	60
RNA in situ	176
RT-PCR	2

cDNA source data(210)
External Resources: Allen Institute   GEO   ArrayExpress

Molecular reagents

All nucleic(213) Genomic(1) cDNA(211) Primer pair(1)
Microarray probesets(4)

Other database links

Ensembl Gene Model	ENSMUSG00000030963 (Evidence)
Entrez Gene	22242 (Evidence)
UniGene	10826
DFCI	TC1572582, TC1596331, TC1647129, TC1680792
DoTS	DT.101238006, DT.91367367
NIA Mouse Gene Index	U029182
Consensus CDS Project	CCDS21780.1
International Mouse Knockout Project Status	Umod

Sequences

Length	Strain/Species
genomic	22242	NCBI Gene Model | MGI Sequence Detail	16390	C57BL/6J
transcript	NM_009470	RefSeq | MGI Sequence Detail	2472	C57BL/6
polypeptide	Q91X17	UniProt | EBI | MGI Sequence Detail	642	Not Applicable

All sequences(23) RefSeq(2) UniProt(1)

Polymorphisms

SNPs(71 from dbSNP Build 128)

Protein-related information

Resource	ID	Description
InterPro	IPR024731	EGF domain, merozoite surface protein 1-like
InterPro	IPR001881	EGF-like calcium-binding
InterPro	IPR018097	EGF-like calcium-binding, conserved site
InterPro	IPR013032	EGF-like, conserved site
InterPro	IPR000152	EGF-type aspartate/asparagine hydroxylation site
InterPro	IPR000742	Epidermal growth factor-like domain
InterPro	IPR001507	Zona pellucida domain
InterPro	IPR017977	Zona pellucida domain, conserved site
Protein Ontology	PR:000017081	uromodulin

Graphical View of Protein Domain Structure

References

(Earliest) J:1730 Sainio K, et al., Differential expression of gap junction mRNAs and proteins in the developing murine kidney and in experimentally induced nephric mesenchymes. Development. 1992 Jul;115(3):827-37
(Latest) J:185444 Liu Y, et al., Tamm-Horsfall protein regulates circulating and renal cytokines by affecting glomerular filtration rate and acting as a urinary cytokine trap. J Biol Chem. 2012 May 11;287(20):16365-78
All references(78)

Other accession IDs

MGD-MRK-19577, MGI:3712276