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Protein Coding Gene : Itm2b integral membrane protein 2B

Primary Identifier  MGI:1309517 Organism  mouse, laboratory
Chromosome  14 NCBI Gene Number  16432
Mgi Type  protein coding gene
description  FUNCTION: Automated description from the Alliance of Genome Resources (Release 7.0.0)

Enables ATP binding activity. Predicted to be involved in negative regulation of amyloid precursor protein biosynthetic process. Predicted to be located in Golgi-associated vesicle membrane and extracellular space. Predicted to be active in Golgi apparatus and plasma membrane. Is expressed in central nervous system; pancreas epithelium; and retina. Used to study cerebral amyloid angiopathy. Human ortholog(s) of this gene implicated in ITM2B-related cerebral amyloid angiopathy 1 and ITM2B-related cerebral amyloid angiopathy 2. Orthologous to human ITM2B (integral membrane protein 2B).
PHENOTYPE: 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. [provided by MGI curators]
  • synonyms:
  • Bri2,
  • DNA segment, Chr 14, Seldin 6,
  • AI256040,
  • Itm2b,
  • Bricd2b,
  • MGD-MRK-25792,
  • expressed sequence AI256040,
  • D14Sel6,
  • MGI:2145608,
  • MGI:104443,
  • integral membrane protein 2B

Features --> Cross References

Genome

Sequence Feature Displayer

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0 Canonical

0 CDSs

0 Exons

0 Genomic Clusters

1 Involved In Mutations

0 Strain

0 Transcripts

0 Transgenic Expressors

0 UTRs

Canonical gene --> CDSs in specific strains.

Canonical gene --> Exons in specific strains

Canonical gene --> Strain-specific IDs, biotypes, and locations

Canonical gene --> Transcripts in specific strains.

Features --> Overlapping features

Proteins

Gene --> Proteins

Function

Mouse features --> Functions (GO terms)

Homology

Genes --> Homologs

Interactions

0 Pathways

0 Targeted By

Gene --> Protein-Protein Interactions

Expression

Gene --> Expression annotations

Phenotype

Genes/Features --> Phenotypes (MP terms)

Disease

Mouse features --> Human diseases

Literature

Mouse features --> Publications

 

Other

0 Driver For