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

    Mouse Genome Browser

  • Download
    Sequence
      32827 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 16, 25.88 cM
  • Mapping Data
    1 experiment
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: HomoloGene, HGNC
  • Synonyms
    DFNB42, ILDR1alpha, ILDR1alpha', ILDR1beta
  • Links
    NCBI Gene ID: 286676
    neXtProt AC: NX_Q86SU0

  • Chr Location
    3q13.33; chr3:121987323-122060516 (-)  GRCh38.p2

  • HomoloGene
    Vertebrate Homology Class 15892
    1 human;1 mouse;1 rat;1 chimpanzee;1 rhesus macaque;1 cattle;1 dog;1 chicken;2 zebrafish;1 frog, western clawed
  • 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
       Deafness, Autosomal Recessive 42; DFNB42   OMIM: 609646 View 2 models
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
    18 phenotypes from 2 alleles in 5 genetic backgrounds
    11 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.
Mice homozygous for a gene trap allele exhibit impaired lipid-induced cholecystokinin secretion. Mice homozygous for a knockout allele exhibit progressive sensorineural hearing loss with outer and inner cochlear hair cell degeneration.
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 OTTMUSG00000014981 VEGA Gene Model | MGI Sequence Detail 32827 C57BL/6J ±  kb
transcript OTTMUST00000035561 VEGA | MGI Sequence Detail 3042 Not Applicable  
polypeptide OTTMUSP00000015935 VEGA | MGI Sequence Detail 537 Not Applicable  
For the selected sequence
Polymorphisms
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  • SNPs within 2kb
    236 from dbSNP Build 142
Protein
Information
less
Molecular
Reagents
less
  • All nucleic 54
    cDNA 54

    Microarray probesets 3
Other
Accession IDs
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MGI:2146582
References
more
  • Summaries
    All 34
    Developmental Gene Expression 2
    Diseases 2
    Gene Ontology 3
    Phenotypes 11
  • 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:229257 Gu Z, et al., Expression of the immunoglobulin superfamily cell adhesion molecules in the developing spinal cord and dorsal root ganglion. PLoS One. 2015;10(3):e0121550

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
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last database update
09/27/2016
MGI 6.05
The Jackson Laboratory