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 western clawed frog; 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, RDGCA
Human Chr (Location)		13q14.3; chr13:48233138-48262096 (+)  GRCh38
Disease Associations		(3) Diseases Associated with Human ITM2B

Mutations,
alleles, and
phenotypes

All mutations/alleles(10) : Gene trapped(2) Targeted(6) Transgenic(2)
Incidental mutations (data from Mutagenetix , APF )
 

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 in Mice Using Itm2b (2)    Mutations Annotated to Human Diseases (5)   

Interactions

Itm2b interacts with 162 markers (Mir7-1, Mir9-1, Mir9-2, ...)

View All

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)    Tissue x Stage Matrix (view)

Assay Type	Results
RNA in situ	29

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

Molecular
reagents

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

Other database
links

Ensembl Gene Model	ENSMUSG00000022108 (Evidence)
Entrez Gene	16432 (Evidence)
DFCI	TC1617503, TC1573700
DoTS	DT.97363029, DT.91444347, DT.55277827, DT.94302323, DT.40140561, 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:204507 Audo I, et al., The familial dementia gene revisited: a missense mutation revealed by whole-exome sequencing identifies ITM2B as a candidate gene underlying a novel autosomal dominant retinal dystrophy in a large family. Hum Mol Genet. 2014 Jan 15;23(2):491-501
All references(50)
Disease annotation references (4)

Other
accession IDs

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