Itm2b
Gene Detail

Symbol Name ID

Itm2b integral membrane protein 2B MGI:1309517

Synonyms

Bri2, Bricd2b, D14Sel6

Feature Type

protein coding gene

Genetic Map

Chromosome 14

38.88 cM
Detailed Genetic Map ± 1 cM


Mapping data(3)

Sequence Map

Chr14:73362231-73385271 bp, - strand From NCBI annotation of GRCm38   23041 bp   ±  kb flank VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer

Mouse Genome Browser

Vertebrate homology

HomoloGene:7388  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 rhesus macaque; 1 cattle; 1 dog; 1 chicken; 1 zebrafish

Gene Tree: Itm2b

Human homologs

Human Homolog		ITM2B, integral membrane protein 2B
NCBI Gene ID		9445
neXtProt AC		NX_Q9Y287
Human Synonyms		ABRI, BRI, BRI2, BRICD2B, E25B, E3-16, FBD, imBRI2
Human Chr (Location)		13q14.3; chr13:48807274-48836232 (+)  GRCh37.p13
Disease Associations		(2) Diseases Associated with Human ITM2B

Alleles and phenotypes

All alleles(8) : Targeted(6) Gene trapped(2)
 

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.

 
Human Diseases Modeled Using Mouse Itm2b (2)    Alleles Annotated to Human Diseases(3)   

Gene Ontology (GO) classifications

All GO classifications: (17 annotations)

Process	extrinsic apoptotic signaling pathway in absence of ligand, negative regulation of amyloid precursor protein biosynthetic process
Component	endosome, extracellular region, ...
Function	ATP binding, beta-amyloid binding, ...

External Resources: FuncBase

Expression

Literature Summary: (6 records)

Data Summary: Results (29)    Tissues (29)    Images (9)
Theiler Stages: 19, 22, 23, 28

Assay Type	Results
RNA in situ	29

cDNA source data(121)
External Resources: Allen Institute   GENSAT   GEO   ArrayExpress

Molecular reagents

All nucleic(122) cDNA(122)
Microarray probesets(5)

Other database links

Ensembl Gene Model	ENSMUSG00000022108 (Evidence)
Entrez Gene	16432 (Evidence)
DFCI	TC1573700, TC1617503
DoTS	DT.40140561, DT.55277827, DT.91444347, DT.94302323, DT.97363029, DT.99871363
NIA Mouse Gene Index	U035764
Consensus CDS Project	CCDS27269.1
International Mouse Knockout Project Status	Itm2b

Sequences

Length	Strain/Species
genomic	16432	NCBI Gene Model | MGI Sequence Detail	23041	C57BL/6J
transcript	NM_008410	RefSeq | MGI Sequence Detail	1773	C57BL/6
polypeptide	O89051	UniProt | EBI | MGI Sequence Detail	266	Not Applicable

All sequences(80) RefSeq(2) UniProt(6)

Polymorphisms

SNPs within 2kb(145 from dbSNP Build 137)

Protein-related information

Resource	ID	Description
InterPro	IPR007084	BRICHOS domain
Protein Ontology	PR:000032246	integral membrane protein 2B

Graphical View of Protein Domain Structure

References

(Earliest) J:20131 Kerr SM, et al., Analysis of cDNA sequences from mouse testis. Mamm Genome. 1994 Sep;5(9):557-65
(Latest) J:198292 Lombino F, et al., An intracellular threonine of amyloid-beta precursor protein mediates synaptic plasticity deficits and memory loss. PLoS One. 2013;8(2):e57120
All references(49)

Other accession IDs

MGD-MRK-25792, MGI:104443, MGI:2145608