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Umod
Gene Detail
Symbol

Name
ID
Umod
uromodulin
MGI:102674
Synonyms
Tamm-Horsfall glycoprotein, THP, Urehd1, 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 Ensembl 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 chimpanzee; 1 rhesus macaque; 1 cattle; 1 dog; 6 western clawed frog

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; chr16:20333051-20352878 (-)  GRCh38
Disease Associations  (3) Diseases Associated with Human UMOD
Mutations,
alleles, and
phenotypes
All mutations/alleles(5) : Chemically induced (ENU)(2) Targeted(3)
Incidental mutations (data from Mutagenetix , APF )
 
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)   
Interactions
Umod interacts with 76 markers (Mir23a, Mir23b, Mir27a, ...)
Gene Ontology
(GO)
classifications
All GO classifications: (25 annotations)
Process chemical homeostasis, excretion, ...
Component anchored component of membrane, apical part of cell, ...
Function calcium ion binding, IgG binding
External Resources: FuncBase
Expression
Literature Summary: (32 records)
Data Summary: Results (238)    Tissues (120)    Images (9)    Tissue x Stage Matrix (view)
Assay TypeResults
Immunohistochemistry 60
RNA in situ 176
RT-PCR 2
cDNA source data(211)
External Resources: Allen Institute   GEO   Expression Atlas
Molecular
reagents
All nucleic(214) Genomic(1) cDNA(212) Primer pair(1)
Microarray probesets(4)
Other database
links
Ensembl Gene ModelENSMUSG00000030963 (Evidence)
Entrez Gene22242 (Evidence)
UniGene10826
DFCITC1680792, TC1647129, TC1572582, TC1640110, TC1596331
DoTSDT.101238006, DT.91367367, DT.101375841
NIA Mouse Gene IndexU029182
Consensus CDS ProjectCCDS21780.1
International Mouse Knockout Project StatusUmod
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic ENSMUSG00000030963 Ensembl Gene Model | MGI Sequence Detail 16390 C57BL/6J ±  kb
transcript ENSMUST00000033263 Ensembl | MGI Sequence Detail 2472 Not Applicable 
polypeptide ENSMUSP00000033263 Ensembl | MGI Sequence Detail 642 Not Applicable 

For the selected sequences
All sequences(28) RefSeq(4) UniProt(1)
Polymorphisms
SNPs within 2kb(103 from dbSNP Build 137)
Protein-related
information
ResourceIDDescription
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 IPR023413 Green fluorescent protein-like
InterPro IPR009030 Insulin-like growth factor binding protein, N-terminal
InterPro IPR001507 Zona pellucida domain
InterPro IPR017977 Zona pellucida domain, conserved site
Protein Ontology PR:000017081 uromodulin
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:215391 Chen Y, et al., Expression of Nek1 during kidney development and cyst formation in multiple nephron segments in the Nek1-deficient kat2J mouse model of polycystic kidney disease. J Biomed Sci. 2014 Jul 17;21(1):63
All references(85)
Disease annotation references (1)
Other
accession IDs
MGD-MRK-19577, MGI:3712266, MGI:3712276

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
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last database update
12/16/2014
MGI 5.20
The Jackson Laboratory