ITM2B (integral membrane protein 2B)

2003-05-01  

Identity

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

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

Pathways

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

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
377927192024Exosomal miRNA-166-5p derived from G-MDSCs promotes proliferation by targeting ITM3E in colorectal cancer.0
382891212024MicroRNA-196a-5p facilitates the onset and progression via targeting ITM2B in esophageal squamous cell carcinoma.1
377927192024Exosomal miRNA-166-5p derived from G-MDSCs promotes proliferation by targeting ITM3E in colorectal cancer.0
382891212024MicroRNA-196a-5p facilitates the onset and progression via targeting ITM2B in esophageal squamous cell carcinoma.1
369350472023Identification of cytoskeletal proteins as binding partners of Bri2 BRICHOS domain.2
370388212023A Novel c.800G>C Variant of the ITM2B Gene in Familial Korean Dementia.3
372207012023Identification of glycolytic proteins as binding partners of Bri2 BRICHOS domain.0
369350472023Identification of cytoskeletal proteins as binding partners of Bri2 BRICHOS domain.2
370388212023A Novel c.800G>C Variant of the ITM2B Gene in Familial Korean Dementia.3
372207012023Identification of glycolytic proteins as binding partners of Bri2 BRICHOS domain.0
328267902021DEEP PHENOTYPING AND FURTHER INSIGHTS INTO ITM2B-RELATED RETINAL DYSTROPHY.2
331728892021Danish and British dementia ITM2b/BRI2 mutations reduce BRI2 protein stability and impair glutamatergic synaptic transmission.10
336900962021The synthesis and characterization of Bri2 BRICHOS coated magnetic particles and their application to protein fishing: Identification of novel binding proteins.0
338144522021A Novel ITM2B Mutation Associated with Familial Chinese Dementia.8
342980872021Association of clusterin with the BRI2-derived amyloid molecules ABri and ADan.1

Citation

Dessen P

ITM2B (integral membrane protein 2B)

Atlas Genet Cytogenet Oncol Haematol. 2003-05-01

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