About   Help   FAQ
Itm2b Gene Detail
Summary
  • Symbol
    Itm2b
  • Name
    integral membrane protein 2B
  • Synonyms
    Bri2, Bricd2b, D14Sel6
  • Feature Type
    protein coding gene
  • IDs
    MGI:1309517
    NCBI Gene: 16432
  • Gene Overview
    MyGene.info: ITM2B
  • Alliance
    gene page
Location & Maps
more
  • Sequence Map
    Chr14:73362231-73385271 bp, - strand
  • From NCBI annotation of GRCm38

    Mouse Genome Browser
  • Download
    Sequence
      23041 bp   ±  kb flank

  • Genome Browsers
    VEGA | Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 14, 38.88 cM
  • Mapping Data
    3 experiments
Homology
more
  • Human Ortholog
    ITM2B, integral membrane protein 2B
  • Vertebrate Orthologs
    10
  • Human Ortholog
    ITM2B, integral membrane protein 2B
    Orthology source: HomoloGene, HGNC
  • Synonyms
    ABRI, BRI, BRI2, BRICD2B, E25B, E3-16, FBD, imBRI2, RDGCA
  • Links
    NCBI Gene ID: 9445
    neXtProt AC: NX_Q9Y287
    UniProt: Q9Y287

  • Chr Location
    13q14.2; chr13:48233138-48262096 (+)  GRCh38.p7
  • HomoloGene
    Vertebrate Homology Class 7388
    1 human;1 mouse;1 rat;1 chimpanzee;1 cattle;1 dog;1 chicken;1 zebrafish;1 frog, western clawed;1 macaque, rhesus
  • HCOP
    human homology predictions: ITM2B
  • Gene Tree
    Itm2b
Human Diseases
more
  • Diseases
    1 with Itm2b mouse models; 2 with human ITM2B associations

Human Disease Mouse Models
      
IDs
 View 8 models
      
IDs
IDs
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    5 with disease annotations
  • References
    6 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    7 phenotypes from 3 alleles in 5 genetic backgrounds
    39 phenotypes from multigenic genotypes
    1 images
    18 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 null mutation display increased levels of soluble APP fragments in the brain. Mice homozygous for a knock-in allele exhibit impaired oject recognition, impaired contextual conditioning, and impaired spatial working memory.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    22
  • GO References
    5
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
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
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
    29
  • Tissues
    29
  • cDNA Data
    121
  • Literature Summary
    7
  • Comparison Matrix
    Gene Expression + Phenotype
    • Interactions
    less
    Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 16432 NCBI Gene Model | MGI Sequence Detail 23041 C57BL/6J ±  kb
    transcript NM_008410 RefSeq | MGI Sequence Detail 1796 C57BL/6  
    polypeptide O89051 UniProt | EBI | MGI Sequence Detail 266 Not Applicable  
    For the selected sequence
    Polymorphisms
    less
    • SNPs within 2kb
      145 from dbSNP Build 142
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 122
      cDNA 122

      Microarray probesets 5
    Other
    Accession IDs
    less
    MGD-MRK-25792, MGI:104443, MGI:2145608
    References
    more
    • Summaries
      All 57
      Developmental Gene Expression 7
      Diseases 6
      Gene Ontology 5
      Phenotypes 18
    • Earliest
      J:20131 Kerr SM, et al., Analysis of cDNA sequences from mouse testis. Mamm Genome. 1994 Sep;5(9):557-65
    • Latest
      J:243142 Garringer HJ, et al., Amyloid and intracellular accumulation of BRI2. Neurobiol Aging. 2017 Apr;52:90-97
    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
    05/08/2018
    MGI 6.12     		The Jackson Laboratory