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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
  • Alliance
    gene page
  • Transcription Start Sites
    6 TSS
Location &
Maps
more
  • Sequence Map
    Chr7:119061931-119078485 bp, - strand
    From NCBI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 7, 63.88 cM, cytoband F1-F2
  • Mapping Data
    6 experiments
Strain
Comparison
more
  • SNPs within 2kb
    459 from dbSNP Build 142
  • Strain Annotations
    17
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_102674
 protein coding gene Chr7:119061931-119078505 (-)
129S1/SvImJ MGP_129S1SvImJ_G0032910
 protein coding gene Chr7:123359165-123376942 (-)
A/J MGP_AJ_G0032893
 protein coding gene Chr7:120192811-120209434 (-)
AKR/J MGP_AKRJ_G0032825
 protein coding gene Chr7:123289751-123306044 (-)
BALB/cJ MGP_BALBcJ_G0032898
 protein coding gene Chr7:119914621-119931110 (-)
C3H/HeJ MGP_C3HHeJ_G0032608
 protein coding gene Chr7:123179505-123196087 (-)
C57BL/6NJ MGP_C57BL6NJ_G0033404
 protein coding gene Chr7:128254841-128273263 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0030376
 protein coding gene Chr7:121627726-121643749 (-)
CAST/EiJ MGP_CASTEiJ_G0031936
 protein coding gene Chr7:114942529-114958713 (-)
CBA/J MGP_CBAJ_G0032581
 protein coding gene Chr7:132544463-132563009 (-)
DBA/2J MGP_DBA2J_G0032733
 protein coding gene Chr7:118233838-118249990 (-)
FVB/NJ MGP_FVBNJ_G0032686
 protein coding gene Chr7:118075697-118091793 (-)
LP/J MGP_LPJ_G0032827
 protein coding gene Chr7:124834312-124851402 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0032718
 protein coding gene Chr7:134005788-134022010 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0033424
 protein coding gene Chr7:122263693-122279197 (-)
PWK/PhJ MGP_PWKPhJ_G0031644
 protein coding gene Chr7:111151068-111167547 (-)
SPRET/EiJ no annotation
WSB/EiJ MGP_WSBEiJ_G0032049
 protein coding gene Chr7:123170337-123187395 (-)



Homology
more
  • Human Ortholog
    UMOD, uromodulin
  • Vertebrate Orthologs
    5
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    UMOD, uromodulin
  • Synonyms
    ADMCKD2, ADTKD1, FJHN, HNFJ, HNFJ1, MCKD2, THGP, THP
  • Links
    NCBI Gene ID: 7369
    neXtProt AC: NX_P07911
    UniProt: P07911

  • Chr Location
    16p12.3; chr16:20333051-20356301 (-)  GRCh38
Human Diseases
more
  • Diseases
    2 with Umod mouse models; 1 with human UMOD associations

Human Disease Mouse Models
      
IDs
 View 2 models
      
IDs
 View 5 models
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    5 with disease annotations
  • References
    5 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    98 phenotypes from 8 alleles in 10 genetic backgrounds
    6 phenotypes from multigenic genotypes
    46 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.
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
less
  • All GO Annotations
    101
  • GO References
    30
Molecular Function

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

carbohydrate derivative metabolism
cell differentiation
cell population proliferation
cellular component organization
DNA-templated transcription
establishment of localization
homeostatic process
immune system process
lipid metabolic process
programmed cell death
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
membraneless organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
protein-containing complex
synapse
vacuole
Click cells to view annotations.
Expression
less
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
    980
  • Tissues
    129
  • cDNA Data
    213
  • Literature Summary
    65
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 22242 NCBI Gene Model | MGI Sequence Detail 16555 C57BL/6J ±  kb
    transcript NM_009470 RefSeq | MGI Sequence Detail 2637 ZRU/MplStud  
    polypeptide Q91X17 UniProt | EBI | MGI Sequence Detail 642 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 219
      Genomic 1
      cDNA 215
      Primer pair 3

      Microarray probesets 4
    Other
    Accession IDs
    less
    MGD-MRK-19577, MGI:3712266, MGI:3712276
    References
    more
    • Summaries
      All 156
      Developmental Gene Expression 65
      Diseases 5
      Gene Ontology 30
      Phenotypes 46
    • Earliest
      J:286727 Sherblom AP, et al., The lectin-like interaction between recombinant tumor necrosis factor and uromodulin. J Biol Chem. 1988 Apr 15;263(11):5418-24
    • Latest
      J:350264 Yano-Sakamoto K, et al., Expression pattern of Runt-related transcription factor (RUNX) family members and the role of RUNX1 during kidney development. Biochem Biophys Res Commun. 2024 Aug 30;722:150155
    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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    Funding Information
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    Send questions and comments to User Support.     		last database update
    11/12/2024
    MGI 6.24     		The Jackson Laboratory