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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
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

  • Chr Location
    13q14.3; chr13:48233138-48262096 (+)  GRCh38.p2
  • HomoloGene
    Vertebrate Homology Class 7388
    1 human;1 mouse;1 rat;1 chimpanzee;1 rhesus macaque;1 cattle;1 dog;1 chicken;1 zebrafish;1 frog, western clawed
  • HCOP
    human homology predictions: ITM2B
  • Gene Tree
    Itm2b
Human Diseases
more
  • Diseases
    2 with Itm2b mouse models; 3 with human ITM2B associations

Human Disease Mouse Models
       Cerebral Amyloid Angiopathy, Itm2b-Related, 1   OMIM: 176500 View 2 models
Cerebral Amyloid Angiopathy, Itm2b-Related, 2   OMIM: 117300 View 6 models
       Retinal Dystrophy with Inner Retinal Dysfunction and Ganglion Cell Abnormalities; RDGCA   OMIM: 616079
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    5 with disease annotations
  • References
    8 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    7 phenotypes from 3 alleles in 5 genetic backgrounds
    39 phenotypes from multigenic genotypes
    16 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.
  • All Mutations and Alleles
    13
  • Chemically induced (other)
    1
  • Gene trapped
    2
  • Targeted
    6
  • Transgenic
    4
  • Genomic Mutations
    1 involving Itm2b
  • Incidental Mutations
    Mutagenetix , APF
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
    23
  • GO References
    5
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
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
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 1773 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
  • UniProt
    6 Sequences
  • Protein Ontology
    PR:000032246 integral membrane protein 2B
  • InterPro Domains
    IPR007084 BRICHOS domain
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 49
    Developmental Gene Expression 7
    Diseases 8
    Gene Ontology 5
    Phenotypes 16
  • Earliest
    J:20131 Kerr SM, et al., Analysis of cDNA sequences from mouse testis. Mamm Genome. 1994 Sep;5(9):557-65
  • Latest
    J:226260 Choi H, et al., Reduced Fertility and Altered Epididymal and Sperm Integrity in Mice Lacking ADAM7. Biol Reprod. 2015 Sep;93(3):70
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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Send questions and comments to User Support. 		last database update
09/27/2016
MGI 6.05 		The Jackson Laboratory