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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
  • Alliance
  • Transcription Start Sites
    3 TSS
Location &
Maps
more
  • Sequence Map
    Chr7:119462708-119479262 bp, - strand
  • From NCBI annotation of GRCm38

    View this region in JBrowse

  • Genome Browsers
  • Genetic Map
    Chromosome 7, 63.88 cM, cytoband F1-F2
  • Mapping Data
    6 experiments
Strain
Comparison
more
  • SNPs within 2kb
    98 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 Chr7:119462708-119479282 (-)
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
    13
  • Human Ortholog
    UMOD, uromodulin
    Orthology source: HomoloGene, HGNC
  • Synonyms
    ADMCKD2, 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.p7

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
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  • Phenotype Summary
    92 phenotypes from 8 alleles in 10 genetic backgrounds
    6 phenotypes from multigenic genotypes
    27 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
immune system
integument
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
neoplasm
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
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
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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
RNA binding
signaling receptor activity
signaling receptor binding
transcription
transferase
transporter
Biological Process

carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
nucleic acid-templated transcription
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
  • Comparison Matrix
  • Interactions
    less
    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 C57BL/6  
    polypeptide Q91X17 UniProt | EBI | MGI Sequence Detail 642 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    • UniProt
      4 Sequences
    • InterPro Domains
      IPR024731 EGF domain
      IPR018097 EGF-like calcium-binding, conserved site
      IPR001881 EGF-like calcium-binding domain
      IPR013032 EGF-like, conserved site
      IPR000742 EGF-like domain
      IPR000152 EGF-type aspartate/asparagine hydroxylation site
      IPR009030 Growth factor receptor cysteine-rich domain superfamily
      IPR001507 Zona pellucida domain
      IPR017977 Zona pellucida domain, conserved site
    Molecular
    Reagents
    less
    • All nucleic 215
      Genomic 1
      cDNA 213
      Primer pair 1

      Microarray probesets 4
    Other
    Accession IDs
    less
    MGD-MRK-19577, MGI:3712266, MGI:3712276
    References
    more
    • Summaries
      All 107
      Developmental Gene Expression 43
      Diseases 5
      Gene Ontology 8
      Phenotypes 27
    • 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:253623 Trudu M, et al., Early involvement of cellular stress and inflammatory signals in the pathogenesis of tubulointerstitial kidney disease due to UMOD mutations. Sci Rep. 2017 Aug 7;7(1):7383

    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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    last database update
    11/06/2018
    MGI 6.13
    The Jackson Laboratory