ITM2C - integral membrane protein 2C Gene

Homo sapiens

Also known as E25; BRI3; E25C; ITM3; BRICD2C

Gene ID: 81618 | Gene type: protein coding

About ITM2C

Cytogenetic location: 2q37.1 Genomic coordinates (GRCh38): 2:230,864,185-230,879,254 (from NCBI)

This gene has 10 transcripts (splice variants), 268 orthologues and 2 paralogues. Broad expression in colon (RPKM 478.6), brain (RPKM 266.8) and 17 other tissues.

Summary

Enables amyloid-beta binding activity. Involved in negative regulation of neuron projection development and neuron differentiation. Located in several cellular components, including Golgi apparatus; lysosome; and perinuclear region of cytoplasm. [provided by Alliance of Genome Resources, Apr 2022]

ITM2C Products(5)

mRNA	Protein	Name
NM_001012514.3	NP_001012532.1	integral membrane protein 2C isoform 3
NM_001012516.2	NP_001012534.1	integral membrane protein 2C isoform 2
NM_001287240.2	NP_001274169.1	integral membrane protein 2C isoform 4
NM_001287241.2	NP_001274170.1	integral membrane protein 2C isoform 1
NM_030926.6	NP_112188.1	integral membrane protein 2C isoform 1

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	18452648	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in negative regulation of neuron projection development	IDA IDA: Inferred from direct assay	18452648	GOA
involved in neuron differentiation	IDA IDA: Inferred from direct assay	18452648	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
located in lysosome	IDA IDA: Inferred from direct assay	14592447	GOA
located in perinuclear region of cytoplasm	IDA IDA: Inferred from direct assay	18452648	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

ITM2C Protein Structure

BRICHOS

0
100
200
267 a.a.

Protein Preferred Names

Protein Names

integral membrane protein 2C

BRICHOS domain containing 2C

Related Diseases

Diseases

Alias

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

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-RS06985	ITM2C Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Macaca mulatta	ITM2C	VGNC	VGNC:73800
Rattus norvegicus	ITM2C	RGD	RGD:1309503
Felis catus	ITM2C	VGNC	VGNC:67866
Canis familiaris	ITM2C	VGNC	VGNC:42151
Mus musculus	ITM2C	MGD	MGI:1927594
Bos taurus	ITM2C	VGNC	VGNC:30341

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