ITM2B - integral membrane protein 2B Gene

Also Known as BRI; FBD; ABRI; BRI2; E25B; E3-16; RDGCA; imBRI2; BRICD2B

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 9445

About ITM2B

Cytogenetic location: 13q14.2 Genomic coordinates (GRCh38): 13:48,233,206-48,270,357 (from NCBI)

This gene has 11 transcripts (splice variants), 242 orthologues, 2 paralogues and is associated with 7 phenotypes. Ubiquitous expression in kidney (RPKM 762.1), placenta (RPKM 503.6) and 25 other tissues.

Summary

Amyloid precursor proteins are processed by Beta-secretase and gamma-secretase to produce beta-amyloid peptides which form the characteristic plaques of Alzheimer disease. This gene encodes a transmembrane protein which is processed at the C-terminus by Furin or furin-like proteases to produce a small secreted peptide which inhibits the deposition of beta-amyloid. Mutations which result in extension of the C-terminal end of the encoded protein, thereby increasing the size of the secreted peptide, are associated with two neurogenerative diseases, familial British dementia and familial Danish dementia. [provided by RefSeq, Oct 2009]

ITM2B Products (1)

mRNA	Protein	Name
NM_021999.5	NP_068839.1	integral membrane protein 2B

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables amyloid-beta binding	IPI IPI: Inferred from physical interaction	19849849	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	16027166	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in negative regulation of amyloid precursor protein biosynthetic process	IDA IDA: Inferred from direct assay	16027166	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in Golgi-associated vesicle membrane	IDA IDA: Inferred from direct assay	17965014	GOA
located in extracellular space	IDA IDA: Inferred from direct assay	18524908	GOA
located in organelle membrane	IDA IDA: Inferred from direct assay	10526337	GOA
located in plasma membrane	IDA IDA: Inferred from direct assay	19114711	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

ITM2B Protein Structure

BRICHOS

0
100
200
266 a.a.

Protein Preferred Names	Protein Names
integral membrane protein 2B	ABri/ADan amyloid peptide

ITM2B Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	ITM2B	Q9Y287	NAALADL2	Homo sapiens	Q58DX5	Y2H Array	25416956
Intra	ITM2B	Q9Y287	NAALADL2	Homo sapiens	Q58DX5	Y2H Prey Pooling	25416956
Intra	ITM2B	Q9Y287	COX5B	Homo sapiens	P10606	Anti Bait CoIP	34446781
Intra	ITM2B	Q9Y287	COX5B	Homo sapiens	P10606	Confocal	34446781
Intra	ITM2B	Q9Y287	TMEM59L	Homo sapiens	Q9UK28	Anti Tag CoIP	33961781
Intra	ITM2B	Q9Y287	TMEM59L	Homo sapiens	Q9UK28	Anti Tag CoIP	28514442
Intra	ITM2B	Q9Y287	BACE1	Homo sapiens	P56817	Anti Bait CoIP	23701002
Intra	ITM2B	Q9Y287	BACE1	Homo sapiens	P56817	Confocal	23701002
Intra	ITM2B	Q9Y287	BACE1	Homo sapiens	P56817	Anti Tag CoIP	23701002
Intra	ITM2B	Q9Y287	SLC2A9	Homo sapiens	Q9NRM0-1	Anti Tag CoIP	31695625
Intra	ITM2B	Q9Y287	SLC2A9	Homo sapiens	Q9NRM0-1	Ub Reconstruction	31695625
Intra	ITM2B	Q9Y287	SLC2A9	Homo sapiens	Q9NRM0-1	Confocal	31695625
Intra	ITM2B	Q9Y287	SLC2A9	Homo sapiens	Q9NRM0-2	Anti Tag CoIP	31695625
Intra	ITM2B	Q9Y287	APP	Homo sapiens	P05067-8	Anti Tag CoIP	16027166
Intra	ITM2B	Q9Y287	APP	Homo sapiens	P05067-8	Anti Bait CoIP	16027166
Intra	ITM2B	Q9Y287	SYNE4	Homo sapiens	Q8N205	Validated Y2H	25416956
Intra	ITM2B	Q9Y287	SYNE4	Homo sapiens	Q8N205	Y2H Array	25416956
Intra	ITM2B	Q9Y287	KASH5	Homo sapiens	Q8N6L0	Y2H Prey Pooling	25416956
Intra	ITM2B	Q9Y287	APP	Homo sapiens	P05067	Anti Bait CoIP	16027166
Intra	ITM2B	Q9Y287	APP	Homo sapiens	P05067	Anti Bait CoIP	34446781
Intra	ITM2B	Q9Y287	APLP2	Homo sapiens	Q06481	Anti Bait CoIP	34446781

Cross: Cross-species interaction Intra: Intraspecies interaction

Recombinant ITM2B Proteins

Cat. No.	Product Name	Accession	Purity
HY-P70938	ITM2B Protein, Human (HEK293, His)	Q9Y287 (Y76-S266 )	≥ 95%, as determined by reducing SDS-PAGE.

Related Diseases

Diseases	Alias
Retinal Dystrophy With Inner Retinal Dysfunction And Ganglion Cell Abnormalities	Retinal Dystrophy With Inner Retinal Dysfunction And Ganglion Cell Anomalies RDGCA Retinal Dystrophy With Inner Nuclear Layer And Ganglion Cell Anomalies Dystrophy, Retinal, With Inner Retinal Dysfunction And Ganglion Cell Abnormalities
Cerebral Amyloid Angiopathy, Itm2b-Related, 1	Dementia, Familial British Fbd Presenile Dementia With Spastic Ataxia Familial British Dementia Abri Amyloidosis Cerebral Amyloid Angiopathy, British Type Itm2b-Related Cerebral Amyloid Angiopathy 1 Familial Dementia, British Type Cerebral Amyloid Angiopathy, Itm2b-Related 1 CAA-ITM2B1 Cerebral Amyloid Angiopathy British Type Dementia, Familial, British
Cerebral Amyloid Angiopathy, Itm2b-Related, 2	Dementia, Familial Danish Fdd Familial Danish Dementia Heredopathia Ophthalmootoencephalica Hooe Cerebellar Ataxia, Cataract, Deafness, And Dementia Or Psychosis Adan Amyloidosis Itm2b-Related Cerebral Amyloid Angiopathy 2 Itm2b Amyloidosis Familial Cerebral Amyloid Angiopathy Itm2b-Related Amyloidosis Itm2b-Related Cerebral Amyloid Angiopathy Familial Dementia, Danish Type Cerebral Amyloid Angiopathy, Itm2b-Related 2 CAA-ITM2B2 Cerebellar Ataxia Cataract Deafness And Dementia Or Psychosis Dementia, Familial, Danish
Dementia	Dementias Presenile Dementia Alzheimer Type Dementia Alzheimer Sclerosis Alzheimer Disease Dementia Alzheimer Dementia Primary Degenerative Alzheimer Type Dementia End Stage Alzheimer'S Dementia Alzheimer'S Type Atypical Dementia Alzheimer Type Presenile Dementia Early Onset Alzheimer Dementia Dementia In Alzheimer Disease Type 2 Dementia In Alzheimer Disease With Early Onset Early Onset Alzheimer Type Dementia, Uncomplicated Primary Degenerative Alzheimer Type Dementia, Early Onset Primary Degenerative Alzheimer Type Dementia, Presenile Onset, Uncomplicated Alzheimer Disease Dementia With Early Onset Presenile Sclerosis Presenile Brain Sclerosis Presenile Alzheimer Brain Sclerosis Late Onset Alzheimer Dementia Dementia In Alzheimer Disease Type 1 Dementia In Alzheimer Disease With Late Onset Primary Degenerative Alzheimer Type Dementia, Late Onset Sdat - [Senile Dementia, Alzheimer Type] Alzheimer Disease Dementia With Late Onset Late Onset Alzheimer Brain Sclerosis Senile Alzheimer Brain Disease Senile Alzheimer Brain Sclerosis Senile Primary Degenerative Alzheimer Type Dementia Senile Dementia Of The Alzheimer Type Arteriosclerotic Dementia Strategic-Infarct Dementia Post Stroke Dementia Vascular Cognitive Impairment Vascular Dementia Dementia Of The Lewy Body Type Dementia With Lewy Bodies Sdlt - [Senile Dementia Of The Lewy Body Type] Senile Dementia Of The Lewy Body Type Alcohol-Related Dementia Alcoholic Dementia Nos Alcohol-Induced Dementia Alcoholic Brain Syndrome Chronic Alcoholic Brain Syndrome Alcohol Dementia Late Onset Alcoholic Psychosis Residual And Late-Onset Alcohol-Induced Psychotic Disorder Mental And Behavioural Disorders Due To Use Of Sedatives Or Hypnotics, Residual And Late-Onset Psychotic Disorder Late-Onset Psychoactive Substance-Induced Psychotic Disorder Inhalant Dementia Volatile Solvents Dementia Dementia In Paralysis Agitans Pdd - [Parkinson Disease Dementia] Dementia Syndrome Of Parkinson Disease Dementia In Parkinson Disease Parkinson Related Dementia Dementia In Huntington Chorea Hiv - [Human Immunodeficiency Virus] Dementia Hiv- [Human Immunodeficiency Virus] Associated Cognitive Motor Complex Hiv- [Human Immunodeficiency Virus] Associated Dementia Complex Aids - [Acquired Immunodeficiency Syndrome] Dementia Complex Aids Related Dementia Dementia Due To Niacin Deficiency
Cerebral Amyloid Angiopathy, Cst3-Related	Cerebral Amyloid Angiopathy Hereditary Cerebral Hemorrhage With Amyloidosis Hchwa Hereditary Cystatin C Amyloid Angiopathy Cerebral Amyloid Angiopathy, Familial Amyloidosis, Cerebroarterial, Icelandic Type Amyloidosis Vi Cerebral Hemorrhage, Hereditary, With Amyloidosis Cst3-Related Cerebral Amyloid Angiopathy Cerebral Hemorrhage, Hereditary, With Amyloidosis, Icelandic Variant Hereditary Cerebral Hemorrhage With Amyloidosis, Icelandic Variant Caa, Familial Cerebral Amyloid Angiopathy, Genetic Acys Amyloidosis Cst3-Related Amyloidosis Cystatin Amyloidosis Hchwa, Icelandic Type Hereditary Cerebral Hemorrhage With Amyloidosis, Icelandic Type Amyloidosis 6 AMYL6 Acys Caa Cerebral Amyloid Angiopathy Cst3-Related Cerebroarterial Amyloidosis Icelandic Type Cystatin C Amyloidosis Hccaa Hchwai Hchwa-I Hereditary Cerebral Hemorrhage With Amyloidosis Icelandic Type Cerebral Amyloid Angiopathy Familial Angiopathy, Amyloid, Cerebral, Cst3-Related Hereditary Cerebral Amyloid Angiopathy, Icelandic Type Familial Cerebral Amyloid Angiopathy Cerebral Amyloid Angiopathy, Hereditary
Cerebral Amyloid Angiopathy, App-Related	Hchwad Amyloidosis, Cerebroarterial, App-Related Amyloidosis, Hereditary, With Cerebral Hemorrhage, Dutch Variant Cerebral Amyloid Angiopathy, App-Related, Dutch Variant Cerebral Amyloid Angiopathy, App-Related, Iowa Variant Cerebral Amyloid Angiopathy, App-Related, Italian Variant Cerebral Amyloid Angiopathy, App-Related, Flemish Variant Cerebral Amyloid Angiopathy, App-Related, Arctic Variant Cerebral Amyloid Angiopathy, Dutch, Italian, Iowa, Flemish, Arctic Variants App-Related Cerebral Amyloid Angiopathy Abetaa21g Amyloidosis Abeta Amyloidosis, Italian Type Abeta Amyloidosis, Arctic Type Abeta Amyloidosis, Iowa Type Abeta Amyloidosis, Dutch Type Hchwa-D Abeta Amyloidosis, Flemish Type Abetaa21g-Related Amyloidosis Hchwa, Flemish Type Hereditary Cerebral Hemorrhage With Amyloidosis, Flemish Type Abetae22k Amyloidosis Hchwa, Italian Type Hereditary Cerebral Hemorrhage With Amyloidosis, Italian Type Abetae22g Amyloidosis Hchwa, Arctic Type Hereditary Cerebral Hemorrhage With Amyloidosis, Arctic Type Abetad23n Amyloidosis Hchwa, Iowa Type Hereditary Cerebral Hemorrhage With Amyloidosis, Iowa Type Abetal34v Amyloidosis Abeta Amyloidosis, Piedmont Type Abetal34v-Related Amyloidosis Hchwa, Piedmont Type Hereditary Cerebral Hemorrhage With Amyloidosis, Piedmont Type Abetae22q Amyloidosis Hchwa, Dutch Type Hereditary Cerebral Hemorrhage With Amyloidosis, Dutch Type CAA-APP Amyloidosis Cerebroarterial App-Related Amyloidosis Hereditary With Cerebral Hemorrhage Dutch Variant Cerebral Amyloid Angiopathy App-Related Arctic Variant Cerebral Amyloid Angiopathy App-Related Dutch Variant Cerebral Amyloid Angiopathy App-Related Flemish Variant Cerebral Amyloid Angiopathy App-Related Iowa Variant Cerebral Amyloid Angiopathy App-Related Italian Variant Familial Occipital Calcifications With Hemorrhagic Strokes Leukoencephalopathy Arterial Dysplasia Dementia Fochs-Ladd Hereditary Cerebral Amyloid Angiopathy Dutch Type Hereditary Cerebral Hemorrhage With Amyloidosis Dutch Type Hereditary Cerebral Hemorrhage With Amyloidosis Italian Type Cerebral Hemorrhage With Amyloidosis, Hereditary, Dutch Type
Amyloidosis	Amyloid Disease Amyloid Amyloid Degeneration Amyloidosis Nos Amyloid Deposition Amyloid Infiltration Idiopathic Amyloidosis Hyaloid Degeneration Lardaceous Degeneration
Alzheimer Disease, Familial, 1	Alzheimer Disease Alzheimer'S Disease Presenile And Senile Dementia AD1 Alzheimer Disease, Susceptibility To Alzheimer Disease, Late-Onset, Susceptibility To Alzheimer Disease 1, Familial AD Familial Alzheimer Disease Alzheimer Disease, Late-Onset Alzheimers Dementia Alzheimer Dementia Alzheimer Sclerosis Alzheimer Syndrome Alzheimer-Type Dementia Dat Primary Senile Degenerative Dementia Sdat Alzheimer Disease 1 Autosomal Dominant Alzheimer Disease Early-Onset Alzheimer Disease With Cerebral Amyloid Angiopathy Late Onset Alzheimer Disease Alzheimers Disease Alzheimer Disease, Early-Onset, With Cerebral Amyloid Angiopathy Late-Onset Alzheimers Disease Alzheimer'S Disease Pathway Kegg Dementia Due To Alzheimer'S Disease Alzheimer Disease Type 1 Alzheimers
Brachydactyly, Type C	Brachydactyly Type C BDC Brachydactyly Haws Type Brachydactyly, Haws Type Brachydactyly C
Brachydactyly, Type A2	Brachydactyly Type A2 BDA2 Mohr-Wriedt Type Brachydactyly Brachymesophalangy Ii Brachymesophalangy Type 2 Brachymesophalangy 2 Brachydactyly, Mohr-Wriedt Type Brachydactyly A2
Fundus Dystrophy	Retinal Dystrophy Retinal Dystrophies Dystrophy, Retinal

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (4)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-P10192	Amyloid Bri Protein (1-23)	Inhibitor	/	Unkown
HY-RS06984	ITM2B Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS21603	Itm2b Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS28121	Itm2b Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Macaca mulatta	ITM2B	VGNC	VGNC:73799
Felis catus	ITM2B	VGNC	VGNC:102237
Rattus norvegicus	ITM2B	RGD	RGD:620727
Canis familiaris	ITM2B	VGNC	VGNC:42150
Mus musculus	ITM2B	MGD	MGI:1309517
Bos taurus	ITM2B	VGNC	VGNC:30340
Others	ITM2B	NCBI