ITM2B (integral membrane protein 2B)

2003-05-01  

Identity

HGNC
ITM2B
LOCATION
13q14.2
LOCUSID
9445
ALIAS
ABRI,BRI,BRI2,BRICD2B,E25B,E3-16,FBD,RDGCA,imBRI2
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 9445
MIM: 603904
HGNC: 6174
Ensembl: ENSG00000136156

Variants:

dbSNP: 9445
ClinVar: 9445
TCGA: ENSG00000136156
COSMIC: ITM2B

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000136156ENST00000378549Q9Y287
ENSG00000136156ENST00000463839U3KQL7
ENSG00000136156ENST00000607866U3KQ52
ENSG00000136156ENST00000647800Q9Y287
ENSG00000136156ENST00000647800A0A384MDP7
ENSG00000136156ENST00000649266A0A3B3IUC0
ENSG00000136156ENST00000649452A0A3B3ITP9
ENSG00000136156ENST00000650237A0A3B3ISG3
ENSG00000136156ENST00000650479A0A3B3IU60

Expression (GTEx)

0
50
100
150
200
250
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Pathways

PathwaySourceExternal ID
Metabolism of proteinsREACTOMER-HSA-392499
Amyloid fiber formationREACTOMER-HSA-977225

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
159830502005The familial dementia BRI2 gene binds the Alzheimer gene amyloid-beta precursor protein and inhibits amyloid-beta production.62
179650142008Regulated intramembrane proteolysis of Bri2 (Itm2b) by ADAM10 and SPPL2a/SPPL2b.56
185249082008BRI2 (ITM2b) inhibits Abeta deposition in vivo.51
160271662005BRI2 interacts with amyloid precursor protein (APP) and regulates amyloid beta (Abeta) production.43
197487052011Maturation of BRI2 generates a specific inhibitor that reduces APP processing at the plasma membrane and in endocytic vesicles.33
210481502010Memory deficits due to familial British dementia BRI2 mutation are caused by loss of BRI2 function rather than amyloidosis.29
215872062011APP heterozygosity averts memory deficit in knockin mice expressing the Danish dementia BRI2 mutant.26
159684642005Chromosome 13 dementias.24
146569912004Axonal transport of British and Danish amyloid peptides via secretory vesicles.21
240993052013The BRICHOS domain, amyloid fibril formation, and their relationship.20

Citation

Dessen P

ITM2B (integral membrane protein 2B)

Atlas Genet Cytogenet Oncol Haematol. 2003-05-01

Online version: http://atlasgeneticsoncology.org/gene/41025/itm2b