Itm2b integral membrane protein 2B [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Itm2bprovided by MGI
Official Full Name: integral membrane protein 2Bprovided by MGI
Primary source: MGI:MGI:1309517
See related: Ensembl:ENSMUSG00000022108 AllianceGenome:MGI:1309517
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: Bri; Bri2; E25BMM; imBRI2; Bricd2b; D14Sel6
Summary: 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). [provided by Alliance of Genome Resources, Nov 2024]
Expression: Broad expression in genital fat pad adult (RPKM 2218.4), kidney adult (RPKM 608.2) and 25 other tissues See more
Orthologs: human all
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Genomic context

Location:: 14 D3; 14 38.88 cM

Exon count:: 6

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	14	NC_000080.7 (73599666..73622729, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	14	NC_000080.6 (73362226..73385289, complement)

Chromosome 14 - NC_000080.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Functional BRI2-TREM2 interactions in microglia: implications for Alzheimer's and related dementias.
Title: Functional BRI2-TREM2 interactions in microglia: implications for Alzheimer's and related dementias.
S100A9 amyloid growth and S100A9 fibril-induced impairment of gamma oscillations in area CA3 of mouse hippocampus ex vivo is prevented by Bri2 BRICHOS.
Title: S100A9 amyloid growth and S100A9 fibril-induced impairment of gamma oscillations in area CA3 of mouse hippocampus ex vivo is prevented by Bri2 BRICHOS.
The Familial dementia gene ITM2b/BRI2 facilitates glutamate transmission via both presynaptic and postsynaptic mechanisms.
Title: The Familial dementia gene ITM2b/BRI2 facilitates glutamate transmission via both presynaptic and postsynaptic mechanisms.
Data indicate that double transgenic (Tg-FDD-Tau) mice showed a significant decrease in synaptophysin levels.
Title: Increased tau phosphorylation and tau truncation, and decreased synaptophysin levels in mutant BRI2/tau transgenic mice.
BRI2 protein regulates beta-amyloid degradation by increasing levels of secreted insulin-degrading enzyme (IDE).
Title: BRI2 protein regulates β-amyloid degradation by increasing levels of secreted insulin-degrading enzyme (IDE).
Suggest that Adam7 functions in fertilization through the formation of a complex with heat shock protein 5, calnexin and Itm2b during capacitation in sperm.
Title: Identification of heat shock protein 5, calnexin and integral membrane protein 2B as Adam7-interacting membrane proteins in mouse sperm.
Itm2b mRNA was differentially expressed in mouse male reproductive tissues, during sexual maturation and up-regulated by testosterone.
Title: Expression and regulation of type II integral membrane protein family members in mouse male reproductive tissues.
BH3-only protein ITM2Bs is able to induce apoptotic cell death in p53+/+, as well as in p53-/- cell lines.
Title: Induction of p53-independent apoptosis by the BH3-only protein ITM2Bs.
ITM2B(S) induces apoptosis via a caspase-dependent mitochondrial pathway.
Title: ITM2BS regulates apoptosis by inducing loss of mitochondrial membrane potential.
The shor form of ITM2B induces apoptosis in IL-2-stimulated cells. The long form can't induce it. ITM2B(s) interacts with Bcl-2, but not with Bad. Mutation of the L and D residues in the BH3 domain abolished the ability of ITM2B(s) to promote apoptosis.
Title: Proapoptotic activity of ITM2B(s), a BH3-only protein induced upon IL-2-deprivation which interacts with Bcl-2.

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Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Endonuclease-mediated (2)
Targeted (4) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH142259 (e-PCR)
- UniSTS:231506

RH129302 (e-PCR)
- UniSTS:212609

AI256040 (e-PCR)
- UniSTS:186011

AI646531 (e-PCR)
- UniSTS:180696

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables ATP binding	IDA Inferred from Direct Assay more info	PubMed
enables amyloid-beta binding	IBA Inferred from Biological aspect of Ancestor more info
enables amyloid-beta binding	IEA Inferred from Electronic Annotation more info
enables amyloid-beta binding	ISO Inferred from Sequence Orthology more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in negative regulation of amyloid precursor protein biosynthetic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in negative regulation of amyloid precursor protein biosynthetic process	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of amyloid precursor protein biosynthetic process	ISS Inferred from Sequence or Structural Similarity more info

Component	Evidence Code	Pubs
is_active_in Golgi apparatus	IBA Inferred from Biological aspect of Ancestor more info
located_in Golgi apparatus	ISO Inferred from Sequence Orthology more info
located_in Golgi membrane	IEA Inferred from Electronic Annotation more info
located_in Golgi-associated vesicle membrane	ISO Inferred from Sequence Orthology more info
located_in Golgi-associated vesicle membrane	ISS Inferred from Sequence or Structural Similarity more info
located_in endosome membrane	IEA Inferred from Electronic Annotation more info
located_in extracellular space	ISO Inferred from Sequence Orthology more info
located_in extracellular space	ISS Inferred from Sequence or Structural Similarity more info
located_in intracellular membrane-bounded organelle	ISO Inferred from Sequence Orthology more info
located_in organelle membrane	ISO Inferred from Sequence Orthology more info
located_in organelle membrane	ISS Inferred from Sequence or Structural Similarity more info
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in plasma membrane	ISO Inferred from Sequence Orthology more info
located_in plasma membrane	ISS Inferred from Sequence or Structural Similarity more info

General protein information

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Preferred Names: integral membrane protein 2B

Names: immature BRI2; integral membrane protein 2B (E25B protein); transmembrane protein BRI

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_008410.3 → NP_032436.1 integral membrane protein 2B precursor

See identical proteins and their annotated locations for NP_032436.1

Status: VALIDATED

Source sequence(s)

AC154718

Consensus CDS

CCDS27269.1

UniProtKB/Swiss-Prot

O89051, Q545S7

UniProtKB/TrEMBL

Q3TVJ0, Q3UCT9

Related

ENSMUSP00000022704.8, ENSMUST00000022704.9

Conserved Domains (1) summary

smart01039
Location:137 → 231

BRICHOS; The BRICHOS domain is found in a variety of proteins implicated in dementia, respiratory distress and cancer