ITM2B integral membrane protein 2B [Homo sapiens (human)] - Gene

Summary

Official Symbol: ITM2Bprovided by HGNC
Official Full Name: integral membrane protein 2Bprovided by HGNC
Primary source: HGNC:HGNC:6174
See related: Ensembl:ENSG00000136156 MIM:603904; AllianceGenome:HGNC:6174
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: BRI; FBD; ABRI; BRI2; E25B; E3-16; RDGCA; imBRI2; BRICD2B
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]
Expression: Ubiquitous expression in kidney (RPKM 762.1), placenta (RPKM 503.6) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 13q14.2

Exon count:: 6

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	13	NC_000013.11 (48233206..48270357)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	13	NC_060937.1 (47453540..47490689)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	13	NC_000013.10 (48807342..48844493)

Chromosome 13 - NC_000013.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Exosomal miRNA-166-5p derived from G-MDSCs promotes proliferation by targeting ITM3E in colorectal cancer.
Title: Exosomal miRNA-166-5p derived from G-MDSCs promotes proliferation by targeting ITM3E in colorectal cancer.
MicroRNA-196a-5p facilitates the onset and progression via targeting ITM2B in esophageal squamous cell carcinoma.
Title: MicroRNA-196a-5p facilitates the onset and progression via targeting ITM2B in esophageal squamous cell carcinoma.
Identification of cytoskeletal proteins as binding partners of Bri2 BRICHOS domain.
Title: Identification of cytoskeletal proteins as binding partners of Bri2 BRICHOS domain.
Identification of glycolytic proteins as binding partners of Bri2 BRICHOS domain.
Title: Identification of glycolytic proteins as binding partners of Bri2 BRICHOS domain.
A Novel c.800G>C Variant of the ITM2B Gene in Familial Korean Dementia.
Title: A Novel c.800G>C Variant of the ITM2B Gene in Familial Korean Dementia.
Association of clusterin with the BRI2-derived amyloid molecules ABri and ADan.
Title: Association of clusterin with the BRI2-derived amyloid molecules ABri and ADan.
DEEP PHENOTYPING AND FURTHER INSIGHTS INTO ITM2B-RELATED RETINAL DYSTROPHY.
Title: DEEP PHENOTYPING AND FURTHER INSIGHTS INTO ITM2B-RELATED RETINAL DYSTROPHY.
First identification of ITM2B interactome in the human retina.
Title: First identification of ITM2B interactome in the human retina.
Danish and British dementia ITM2b/BRI2 mutations reduce BRI2 protein stability and impair glutamatergic synaptic transmission.
Title: Danish and British dementia ITM2b/BRI2 mutations reduce BRI2 protein stability and impair glutamatergic synaptic transmission.
A Novel ITM2B Mutation Associated with Familial Chinese Dementia.
Title: A Novel ITM2B Mutation Associated with Familial Chinese Dementia.

Submit: New GeneRIF Correction See all GeneRIFs (55)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
ABri amyloidosis MedGen: C5190835 OMIM: 176500 GeneReviews: Not available	not available
ADan amyloidosis MedGen: C1861735 OMIM: 117300 GeneReviews: Not available	not available
Retinal dystrophy with inner retinal dysfunction and ganglion cell anomalies MedGen: C4015146 OMIM: 616079 GeneReviews: Not available	not available

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Protein interactions

Protein	Gene	Interaction	Pubs
Envelope surface glycoprotein gp160, precursor	env	HIV-1 gp160 is identified to have a physical interaction with integral membrane protein 2B (ITM2B) in human HEK293 and/or Jurkat cell lines by using affinity tagging and purification mass spectrometry analyses	PubMed

Go to the HIV-1, Human Interaction Database

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH44780 (e-PCR)
- UniSTS:57353

D13S1155 (e-PCR)
- UniSTS:4891

A002O26 (e-PCR)
- UniSTS:64356

SHGC-34192 (e-PCR)
- UniSTS:450

RH44653 (e-PCR)
- UniSTS:64709

D13S841E (e-PCR)
- UniSTS:151516

D13S864E (e-PCR)
- UniSTS:151526

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables ATP binding	IEA Inferred from Electronic Annotation more info
enables amyloid-beta binding	IBA Inferred from Biological aspect of Ancestor more info
enables amyloid-beta binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in negative regulation of amyloid precursor protein biosynthetic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in negative regulation of amyloid precursor protein biosynthetic process	IDA Inferred from Direct Assay more info	PubMed
involved_in nervous system development	TAS Traceable Author Statement more info	PubMed

Component	Evidence Code	Pubs
is_active_in Golgi apparatus	IBA Inferred from Biological aspect of Ancestor more info
located_in Golgi apparatus	IDA Inferred from Direct Assay more info
located_in Golgi membrane	IEA Inferred from Electronic Annotation more info
located_in Golgi-associated vesicle membrane	IDA Inferred from Direct Assay more info	PubMed
located_in endosome membrane	IEA Inferred from Electronic Annotation more info
located_in extracellular exosome	HDA more info	PubMed
located_in extracellular region	TAS Traceable Author Statement more info
located_in extracellular space	IDA Inferred from Direct Assay more info	PubMed
located_in intracellular membrane-bounded organelle	IDA Inferred from Direct Assay more info
located_in membrane	HDA more info	PubMed
located_in organelle membrane	IDA Inferred from Direct Assay more info	PubMed
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in plasma membrane	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: integral membrane protein 2B

Names: ABri/ADan amyloid peptide; BRICHOS domain containing 2B; epididymis secretory sperm binding protein; immature BRI2; transmembrane protein BRI

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.