ITM2B - integral membrane protein 2B Gene

Homo sapiens

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

Gene ID: 9445 | Gene type: protein coding

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	Reference	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	Reference	Source
involved in negative regulation of amyloid precursor protein biosynthetic process	IDA IDA: Inferred from direct assay	16027166	GOA

Cellular Component GO Annotation	Evidence	Reference	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

Recombinant ITM2B Proteins

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

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

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS06984	ITM2B Human Pre-designed siRNA Set A	Pre-designed Sets	/	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

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