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Umod Gene Detail
Summary
  • Symbol
    Umod
  • Name
    uromodulin
  • Synonyms
    Tamm-Horsfall glycoprotein, THP, Urehd1, urehr4, uromucoid
  • Feature Type
    protein coding gene
  • IDs
    MGI:102674
    NCBI Gene: 22242
  • Gene Overview
    MyGene.info: UMOD
Location & Maps
more
  • Sequence Map
    Chr7:119462711-119479282 bp, - strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      16572 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 7, 63.88 cM, cytoband F1-F2
  • Mapping Data
    6 experiments
Homology
more
  • Human Ortholog
    UMOD, uromodulin
  • Vertebrate Orthologs
    13
  • Human Ortholog
    UMOD, uromodulin
    Orthology source: HomoloGene
  • Synonyms
    ADMCKD2, FJHN, HNFJ, HNFJ1, MCKD2, THGP, THP
  • Links
    NCBI Gene ID: 7369
    neXtProt AC: NX_P07911

  • Chr Location
    16p12.3; chr16:20333051-20356301 (-)  GRCh38.p2

Human Diseases
more
  • Diseases
    3 with Umod mouse models; 3 with human UMOD associations

Human Disease Mouse Models
       Hyperuricemic Nephropathy, Familial Juvenile, 1; HNFJ1   OMIM: 162000 View 2 models
Medullary Cystic Kidney Disease 2; MCKD2   OMIM: 603860 View 1 model
       Medullary Cystic Kidney Disease 1; MCKD1   OMIM: 174000 View 1 model
       Glomerulocystic Kidney Disease with Hyperuricemia and Isosthenuria   OMIM: 609886
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    2 with disease annotations
  • References
    2 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    86 phenotypes from 6 alleles in 8 genetic backgrounds
    6 phenotypes from multigenic genotypes
    22 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
neoplasm
vision/eye

Click cells to view annotations.
  • All Mutations and Alleles
    7
  • Chemically induced (ENU)
    2
  • Targeted
    3
  • Transgenic
    2
  • Incidental Mutations
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 ureahandling, energy, bone, and lipid metabolism.
Gene Ontology
(GO)
Classifications
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  • All GO Annotations
  • GO References
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
receptor
receptor binding
RNA binding
transcription
transferase
transporter
Biological Process

nucleic acid-templated transcription
carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
synapse
vacuole
Click cells to view annotations.
Expression
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Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
  • Tissues
  • cDNA Data
  • Literature Summary
Interactions
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Sequences &
Gene Models
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Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000059102 VEGA Gene Model | MGI Sequence Detail 16572 C57BL/6J ±  kb
transcript OTTMUST00000144962 VEGA | MGI Sequence Detail 2571 Not Applicable  
polypeptide OTTMUSP00000075517 VEGA | MGI Sequence Detail 642 Not Applicable  
For the selected sequence
Polymorphisms
less
  • SNPs within 2kb
    98 from dbSNP Build 142
Protein
Information
less
Molecular
Reagents
less
  • All nucleic 214
    Genomic 1
    cDNA 212
    Primer pair 1

    Microarray probesets 4
Other
Accession IDs
less
MGD-MRK-19577, MGI:3712266, MGI:3712276
References
more
  • Summaries
    All 86
    Developmental Gene Expression 34
    Diseases 2
    Gene Ontology 8
    Phenotypes 22
  • 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:229250 Cui J, et al., Analysis of Kif5b expression during mouse kidney development. PLoS One. 2015;10(4):e0126002

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
07/19/2016
MGI 6.04
The Jackson Laboratory