integral membrane protein 2B

Summary
Gene Symbol
  • ITM2B
Organism
Homo sapiens (human)
NCBI Gene
9445
PubChem
9445
Alliance of Genome Resources
Annotation
Keyword
  • Alternative splicing
  • Amyloid
  • Amyloidosis
  • Cell membrane
  • Cleavage on pair of basic residues
  • Deafness
  • Disease variant
  • Disulfide bond
  • Endosome
  • Glycoprotein
  • Golgi apparatus
  • Neurodegeneration
  • Reference proteome
  • Secreted
  • Signal-anchor
  • Transmembrane helix
Proteins
Displaying all 2 entries
UniProt Protein Name
Q9Y287
  • Immature BRI2
  • Protein E25B
  • Transmembrane protein BRI
A0A384MDP7
Gene Ontology (GO)
GO Hierarchy
OrthoDB (Group)
Group level
Eukaryota
Group Name
Uncharacterized protein
Functional Category
  • G: Carbohydrate transport and metabolism
  • M: Cell wall/membrane/envelope biogenesis
  • T: Signal transduction mechanisms
Disease
Disease Ontology
Displaying all 3 entries
DO ID Disease Name Source
DOID:0070029 ITM2B-related cerebral amyloid angiopathy 1
DOID:0070030 ITM2B-related cerebral amyloid angiopathy 2
DOID:9246 cerebral amyloid angiopathy

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: December 9, 2024