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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
  • Alliance
    gene page
  • Transcription Start Sites
    31 TSS
Location &
Maps
more
  • Sequence Map
    Chr14:73599666-73622729 bp, - strand
    From NCBI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 14, 38.88 cM
  • Mapping Data
    3 experiments
Strain
Comparison
more
  • SNPs within 2kb
    132 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1309517
 protein coding gene Chr14:73599666-73622729 (-)
129S1/SvImJ MGP_129S1SvImJ_G0021557
 protein coding gene Chr14:68108122-68132064 (-)
A/J MGP_AJ_G0021516
 protein coding gene Chr14:66618052-66641072 (-)
AKR/J MGP_AKRJ_G0021492
 protein coding gene Chr14:68573131-68596122 (-)
BALB/cJ MGP_BALBcJ_G0021522
 protein coding gene Chr14:66378169-66401217 (-)
C3H/HeJ MGP_C3HHeJ_G0021299
 protein coding gene Chr14:68301479-68325244 (-)
C57BL/6NJ MGP_C57BL6NJ_G0021963
 protein coding gene Chr14:71103730-71126880 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0019501
 protein coding gene Chr14:64337697-64360629 (-)
CAST/EiJ MGP_CASTEiJ_G0020817
 protein coding gene Chr14:64964130-64987203 (-)
CBA/J MGP_CBAJ_G0021267
 protein coding gene Chr14:73332422-73359590 (-)
DBA/2J MGP_DBA2J_G0021390
 protein coding gene Chr14:66000163-66023590 (-)
FVB/NJ MGP_FVBNJ_G0021368
 protein coding gene Chr14:65377922-65400828 (-)
LP/J MGP_LPJ_G0021460
 protein coding gene Chr14:69277320-69300427 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0021397
 protein coding gene Chr14:72167959-72192890 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0021985
 protein coding gene Chr14:67845186-67872674 (-)
PWK/PhJ MGP_PWKPhJ_G0020560
 protein coding gene Chr14:62768860-62792266 (-)
SPRET/EiJ MGP_SPRETEiJ_G0020395
 protein coding gene Chr14:63798670-63837219 (-)
WSB/EiJ MGP_WSBEiJ_G0020870
 protein coding gene Chr14:68196586-68220313 (-)



Homology
more
  • Human Ortholog
    ITM2B, integral membrane protein 2B
  • Vertebrate Orthologs
    4
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    ITM2B, integral membrane protein 2B
  • 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
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
    20 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.
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
    20
  • GO References
    5
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
    701
  • Tissues
    29
  • cDNA Data
    122
  • 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 23064 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
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 123
      cDNA 123

      Microarray probesets 5
    Other
    Accession IDs
    less
    MGD-MRK-25792, MGI:104443, MGI:2145608
    References
    more
    • Summaries
      All 61
      Developmental Gene Expression 7
      Diseases 6
      Gene Ontology 5
      Phenotypes 20
    • Earliest
      J:20131 Kerr SM, et al., Analysis of cDNA sequences from mouse testis. Mamm Genome. 1994 Sep;5(9):557-65
    • Latest
      J:296936 Cisternas P, et al., Vascular amyloid accumulation alters the gabaergic synapse and induces hyperactivity in a model of cerebral amyloid angiopathy. Aging Cell. 2020 Oct;19(10):e13233
    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB), Gene Ontology (GO)
    Citing These Resources
    Funding Information
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    Send questions and comments to User Support.     		last database update
    11/23/2021
    MGI 6.17     		The Jackson Laboratory