About   Help   FAQ
Ildr1 Gene Detail
Summary
  • Symbol
    Ildr1
  • Name
    immunoglobulin-like domain containing receptor 1
  • Feature Type
    protein coding gene
  • IDs
    MGI:2146574
    NCBI Gene: 106347
  • Alliance
  • Transcription Start Sites
    4 TSS
Location &
Maps
more
  • Sequence Map
    Chr16:36693978-36726804 bp, + strand
  • From NCBI annotation of GRCm38

    View this region in JBrowse

  • Genome Browsers
  • Genetic Map
    Chromosome 16, 25.88 cM
  • Mapping Data
    1 experiment
Strain
Comparison
more
  • SNPs within 2kb
    236 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_2146574
protein coding gene Chr16:36693978-36726804 (.)
129S1/SvImJ MGP_129S1SvImJ_G0022791
protein coding gene Chr16:35097249-35133010 (+)
A/J MGP_AJ_G0022756
protein coding gene Chr16:33377330-33411244 (+)
AKR/J MGP_AKRJ_G0022728
protein coding gene Chr16:34652236-34685695 (+)
BALB/cJ MGP_BALBcJ_G0022757
protein coding gene Chr16:33481363-33514129 (+)
C3H/HeJ MGP_C3HHeJ_G0022521
protein coding gene Chr16:34767235-34803517 (+)
C57BL/6NJ MGP_C57BL6NJ_G0023204
protein coding gene Chr16:35943415-35981910 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0020718
protein coding gene Chr16:33740471-33773184 (+)
CAST/EiJ MGP_CASTEiJ_G0022047
protein coding gene Chr16:34884608-34919771 (+)
CBA/J MGP_CBAJ_G0022492
protein coding gene Chr16:37510537-37550036 (+)
DBA/2J MGP_DBA2J_G0022624
protein coding gene Chr16:33268869-33303326 (+)
FVB/NJ MGP_FVBNJ_G0022599
protein coding gene Chr16:33302468-33335756 (+)
LP/J MGP_LPJ_G0022692
protein coding gene Chr16:34815815-34850406 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0022618
protein coding gene Chr16:36554136-36586962 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0023219
protein coding gene Chr16:34597561-34634565 (+)
PWK/PhJ MGP_PWKPhJ_G0021787
protein coding gene Chr16:33662704-33698040 (+)
SPRET/EiJ MGP_SPRETEiJ_G0021618
protein coding gene Chr16:34520873-34555289 (+)
WSB/EiJ MGP_WSBEiJ_G0022091
protein coding gene Chr16:34654824-34691437 (+)



Homology
more
  • Human Ortholog
    ILDR1, immunoglobulin like domain containing receptor 1
  • Vertebrate Orthologs
    11
  • Human Ortholog
    ILDR1, immunoglobulin like domain containing receptor 1
    Orthology source: HGNC, HomoloGene
  • Synonyms
    DFNB42, ILDR1alpha, ILDR1alpha', ILDR1beta
  • Links
    NCBI Gene ID: 286676
    neXtProt AC: NX_Q86SU0
    UniProt: Q86SU0

  • Chr Location
    3q13.33; chr3:121987323-122060554 (-)  GRCh38.p7

  • HomoloGene
    Vertebrate Homology Class 15892
    1 human;1 mouse;1 rat;1 chimpanzee;1 cattle;1 dog;1 chicken;2 zebrafish;1 frog, western clawed;1 macaque, rhesus
  • HCOP
    human homology predictions: ILDR1
  • Gene Tree
Human Diseases
more
  • Diseases
    1 with Ildr1 mouse models; 1 with human ILDR1 associations

Human Disease Mouse Models
      
IDs
View 3 models
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    3 with disease annotations
  • References
    3 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    22 phenotypes from 3 alleles in 6 genetic backgrounds
    12 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 leads to progressive cochlear hair cell degeneration and profound deafness. Mice homozygous for a gene trap allele also exhibit impaired lipid-induced cholecystokinin secretion.
Gene Ontology
(GO)
Classifications
less
  • 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 population 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
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
  • Tissues
  • cDNA Data
  • Literature Summary
  • Comparison Matrix
  • Interactions
    less
    Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 106347 NCBI Gene Model | MGI Sequence Detail 32827 C57BL/6J ±  kb
    transcript NM_001285788 RefSeq | MGI Sequence Detail 3042 C57BL/6  
    polypeptide Q8CBR1 UniProt | EBI | MGI Sequence Detail 537 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 55
      cDNA 55

      Microarray probesets 3
    Other
    Accession IDs
    less
    MGI:2146582
    References
    more
    • Summaries
      All 37
      Developmental Gene Expression 2
      Diseases 3
      Gene Ontology 5
      Phenotypes 12
    • Earliest
      J:60984 Ko MS, et al., Large-scale cDNA analysis reveals phased gene expression patterns during preimplantation mouse development. Development. 2000 Apr;127(8):1737-49
    • Latest
      J:242212 Gong Y, et al., ILDR1 is important for paracellular water transport and urine concentration mechanism. Proc Natl Acad Sci U S A. 2017 May 16;114(20):5271-5276

    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
    Citing These Resources
    Funding Information
    Warranty Disclaimer & Copyright Notice
    Send questions and comments to User Support.
    last database update
    12/04/2018
    MGI 6.13
    The Jackson Laboratory