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Aliases for ITM2B Gene

Aliases for ITM2B Gene

  • Integral Membrane Protein 2B 2 3 5
  • BRICHOS Domain Containing 2B 2 3
  • Transmembrane Protein BRI 3 4
  • Immature BRI2 3 4
  • ImBRI2 3 4
  • BRI2 3 4
  • BRI 3 4
  • ABri/ADan Amyloid Peptide 3
  • Protein E25B 4
  • BRICD2B 3
  • E3-16 3
  • RDGCA 3
  • ABRI 3
  • E25B 3
  • FBD 3

External Ids for ITM2B Gene

Previous GeneCards Identifiers for ITM2B Gene

  • GC13P046807
  • GC13P042794
  • GC13P047743
  • GC13P046605
  • GC13P046602
  • GC13P047705
  • GC13P048807
  • GC13P029600

Summaries for ITM2B Gene

Entrez Gene Summary for ITM2B Gene

  • 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]

GeneCards Summary for ITM2B Gene

ITM2B (Integral Membrane Protein 2B) is a Protein Coding gene. Diseases associated with ITM2B include Dementia, Familial British and Retinal Dystrophy With Inner Retinal Dysfunction And Ganglion Cell Abnormalities. Among its related pathways are Activated PKN1 stimulates transcription of AR (androgen receptor) regulated genes KLK2 and KLK3 and Transport to the Golgi and subsequent modification. GO annotations related to this gene include beta-amyloid binding. An important paralog of this gene is ITM2C.

UniProtKB/Swiss-Prot for ITM2B Gene

  • Plays a regulatory role in the processing of the beta-amyloid A4 precursor protein (APP) and acts as an inhibitor of the beta-amyloid peptide aggregation and fibrils deposition. Plays a role in the induction of neurite outgrowth. Functions as a protease inhibitor by blocking access of secretases to APP cleavage sites.

  • Mature BRI2 (mBRI2) functions as a modulator of the beta-amyloid A4 precursor protein (APP) processing leading to a strong reduction in the secretion of secretase-processed beta-amyloid protein 40 and beta-amyloid protein 42.

  • Bri23 peptide prevents aggregation of APP beta-amyloid protein 42 peptide into toxic oligomers.

Gene Wiki entry for ITM2B Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ITM2B Gene

Genomics for ITM2B Gene

Regulatory Elements for ITM2B Gene

Enhancers for ITM2B Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around ITM2B on UCSC Golden Path with GeneCards custom track

Promoters for ITM2B Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around ITM2B on UCSC Golden Path with GeneCards custom track

Genomic Location for ITM2B Gene

Chromosome:
13
Start:
48,233,138 bp from pter
End:
48,270,357 bp from pter
Size:
37,220 bases
Orientation:
Plus strand

Genomic View for ITM2B Gene

Genes around ITM2B on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ITM2B Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ITM2B Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ITM2B Gene

Proteins for ITM2B Gene

  • Protein details for ITM2B Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9Y287-ITM2B_HUMAN
    Recommended name:
    Integral membrane protein 2B
    Protein Accession:
    Q9Y287
    Secondary Accessions:
    • Q5W0A3
    • Q96B24
    • Q9NYH1

    Protein attributes for ITM2B Gene

    Size:
    266 amino acids
    Molecular mass:
    30338 Da
    Quaternary structure:
    • Homodimer; disulfide-linked. Interacts with SPPL2A and SPPL2B. Interacts with APP. Mature BRI2 (mBRI2) interacts with the APP amyloid beta A4 protein; the interaction occurs at the cell surface and in the endocytic compartments and enable alpha- and beta-secretase-induced APP cleavage inhibition. Mature BRI2 (mBRI2) interacts with the APP C99; the interaction occurs in the endocytic compartments and enable gamma-secretase-induced C99 cleavage inhibition. May form heterodimers with Bri23 peptide and APP beta-amyloid protein 40.

    Alternative splice isoforms for ITM2B Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ITM2B Gene

Proteomics data for ITM2B Gene at MOPED

Post-translational modifications for ITM2B Gene

  • Glycosylation at Asn-170 is important for cell surface localization, but doesnt affect furin- and ADAM10-induced proteolytic processing.
  • The ectodomain C-terminal part of the imBRI2 is processed by furin producing a secreted Bri23 peptide and a mature BRI2, membrane form (mBRI2). The remaining part of the ectodomain of mBRI2 containing the BRICHOS domain is cleaved by ADAM10 and is secreted (BRI2C, soluble form). The membrane-bound N-terminal fragment (BRI2C, membrane form) is further proteolytically processed by SPPL2A and SPPL2B through regulated intramembrane proteolysis producing a secreted C-peptide and a BRI2 intracellular domain (BRI2 ICD) released in the cytosol. Shedding by ADAM10 facilitates intramembrane cleavage but is not absolutely required for BRI2 ICD generation.
  • Ubiquitination at Lys 3 and Lys 13
  • Glycosylation at Asn 170
  • Modification sites at PhosphoSitePlus

Other Protein References for ITM2B Gene

No data available for DME Specific Peptides for ITM2B Gene

Domains & Families for ITM2B Gene

Gene Families for ITM2B Gene

Protein Domains for ITM2B Gene

InterPro:
Blocks:
ProtoNet:

Suggested Antigen Peptide Sequences for ITM2B Gene

Graphical View of Domain Structure for InterPro Entry

Q9Y287

UniProtKB/Swiss-Prot:

ITM2B_HUMAN :
  • Contains 1 BRICHOS domain.
  • Belongs to the ITM2 family.
Domain:
  • Contains 1 BRICHOS domain.
Family:
  • Belongs to the ITM2 family.
genes like me logo Genes that share domains with ITM2B: view

Function for ITM2B Gene

Molecular function for ITM2B Gene

GENATLAS Biochemistry:
integral membrane protein type 2B,ubiquitously expressed
UniProtKB/Swiss-Prot Function:
Plays a regulatory role in the processing of the beta-amyloid A4 precursor protein (APP) and acts as an inhibitor of the beta-amyloid peptide aggregation and fibrils deposition. Plays a role in the induction of neurite outgrowth. Functions as a protease inhibitor by blocking access of secretases to APP cleavage sites.
UniProtKB/Swiss-Prot Function:
Mature BRI2 (mBRI2) functions as a modulator of the beta-amyloid A4 precursor protein (APP) processing leading to a strong reduction in the secretion of secretase-processed beta-amyloid protein 40 and beta-amyloid protein 42.
UniProtKB/Swiss-Prot Function:
Bri23 peptide prevents aggregation of APP beta-amyloid protein 42 peptide into toxic oligomers.

Gene Ontology (GO) - Molecular Function for ITM2B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 16027166
genes like me logo Genes that share ontologies with ITM2B: view
genes like me logo Genes that share phenotypes with ITM2B: view

Human Phenotype Ontology for ITM2B Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for ITM2B Gene

MGI Knock Outs for ITM2B:

Animal Model Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for ITM2B Gene

Localization for ITM2B Gene

Subcellular locations from UniProtKB/Swiss-Prot for ITM2B Gene

Integral membrane protein 2B: Golgi apparatus membrane; Single-pass type II membrane protein. Note=Immature BRI2 (imBRI2) is cleaved by furin in the Golgi into mBRI2 and a Bri23 peptide. mBRI2 is transported to the plasma membrane and Bri23 peptide is secreted.
BRI2, membrane form: Cell membrane; Single-pass type II membrane protein. Endosome membrane; Single-pass type II membrane protein. Note=Mature BRI2 (mBRI2) needs to be transported from the endoplasmic reticulum compartment to the cell membrane in order to be able to inhibit APP processing. {ECO:0000269 PubMed:19748705}.
Bri23 peptide: Secreted. Note=Detected in the cerebral spinal fluid (CSF). {ECO:0000269 PubMed:18524908}.
BRI2C, soluble form: Secreted.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for ITM2B Gene COMPARTMENTS Subcellular localization image for ITM2B gene
Compartment Confidence
extracellular 5
golgi apparatus 5
plasma membrane 5
endosome 3

Gene Ontology (GO) - Cellular Components for ITM2B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region TAS --
GO:0016020 membrane IDA 19946888
GO:0031301 integral component of organelle membrane IDA 10526337
GO:0043231 intracellular membrane-bounded organelle IDA --
GO:0070062 extracellular exosome IDA 19056867
genes like me logo Genes that share ontologies with ITM2B: view

Pathways & Interactions for ITM2B Gene

genes like me logo Genes that share pathways with ITM2B: view

Pathways by source for ITM2B Gene

2 Reactome pathways for ITM2B Gene

Gene Ontology (GO) - Biological Process for ITM2B Gene

None

No data available for SIGNOR curated interactions for ITM2B Gene

Drugs & Compounds for ITM2B Gene

(1) Additional Compounds for ITM2B Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with ITM2B: view

Transcripts for ITM2B Gene

Unigene Clusters for ITM2B Gene

Integral membrane protein 2B:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for ITM2B Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5 ^ 6a · 6b ^ 7
SP1: -
SP2:
SP3: - - -

Relevant External Links for ITM2B Gene

GeneLoc Exon Structure for
ITM2B
ECgene alternative splicing isoforms for
ITM2B

Expression for ITM2B Gene

mRNA expression in normal human tissues for ITM2B Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for ITM2B Gene

This gene is overexpressed in Whole Blood (x6.7).

Protein differential expression in normal tissues from HIPED for ITM2B Gene

This gene is overexpressed in Amniocyte (31.2) and Urine (30.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for ITM2B Gene



SOURCE GeneReport for Unigene cluster for ITM2B Gene Hs.643683

mRNA Expression by UniProt/SwissProt for ITM2B Gene

Q9Y287-ITM2B_HUMAN
Tissue specificity: Ubiquitous. Expressed in brain.
genes like me logo Genes that share expression patterns with ITM2B: view

Primer Products

No data available for Protein tissue co-expression partners for ITM2B Gene

Orthologs for ITM2B Gene

This gene was present in the common ancestor of animals.

Orthologs for ITM2B Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia ITM2B 35
  • 90.57 (n)
  • 94.72 (a)
ITM2B 36
  • 94 (a)
OneToOne
dog
(Canis familiaris)
Mammalia ITM2B 35
  • 91.71 (n)
  • 96.17 (a)
ITM2B 36
  • 93 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Itm2b 35
  • 86.09 (n)
  • 95.49 (a)
Itm2b 16
Itm2b 36
  • 95 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia ITM2B 35
  • 99.87 (n)
  • 100 (a)
ITM2B 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Itm2b 35
  • 88.22 (n)
  • 96.24 (a)
oppossum
(Monodelphis domestica)
Mammalia ITM2B 36
  • 89 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ITM2B 36
  • 83 (a)
OneToOne
chicken
(Gallus gallus)
Aves ITM2B 35
  • 74.74 (n)
  • 75.77 (a)
ITM2B 36
  • 77 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ITM2B 36
  • 77 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia itm2b 35
  • 72.53 (n)
  • 72.27 (a)
MGC76131 35
African clawed frog
(Xenopus laevis)
Amphibia itm2b-prov 35
zebrafish
(Danio rerio)
Actinopterygii itm2ba 35
  • 64.71 (n)
  • 62.35 (a)
wufc05f02 35
itm2ba 36
  • 58 (a)
OneToMany
itm2bb 36
  • 59 (a)
OneToMany
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.10389 35
fruit fly
(Drosophila melanogaster)
Insecta CG3662 36
  • 18 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea C25F6.7 36
  • 20 (a)
OneToMany
Species with no ortholog for ITM2B:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for ITM2B Gene

ENSEMBL:
Gene Tree for ITM2B (if available)
TreeFam:
Gene Tree for ITM2B (if available)

Paralogs for ITM2B Gene

Paralogs for ITM2B Gene

(8) SIMAP similar genes for ITM2B Gene using alignment to 6 proteins:

Pseudogenes.org Pseudogenes for ITM2B Gene

genes like me logo Genes that share paralogs with ITM2B: view

Variants for ITM2B Gene

Sequence variations from dbSNP and Humsavar for ITM2B Gene

SNP ID Clin Chr 13 pos Sequence Context AA Info Type
rs11556905 - 48,233,403(+) AGGAG(A/G)CCAAG reference, missense
VAR_072434 Retinal dystrophy with inner retinal dysfunction and ganglion cell abnormalities (RDGCA)
rs15059 -- 48,261,263(+) TATCA(C/T)AGCAT utr-variant-3-prime
rs1002865 -- 48,246,595(-) TCTAC(A/G)TTAGG intron-variant
rs1053852 -- 48,261,392(+) AATTT(A/T)TTTCT utr-variant-3-prime

Variation tolerance for ITM2B Gene

Residual Variation Intolerance Score: 42.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.82; 47.80% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for ITM2B Gene

Human Gene Mutation Database (HGMD)
ITM2B

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Structural Variations from Database of Genomic Variants (DGV) for ITM2B Gene

Disorders for ITM2B Gene

MalaCards: The human disease database

(12) MalaCards diseases for ITM2B Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
dementia, familial british
  • dementia familial british
retinal dystrophy with inner retinal dysfunction and ganglion cell abnormalities
  • rdgca
dementia, familial danish
  • cerebellar ataxia, cataract, deafness, and dementia or psychosis
retinal dystrophy with inner retinal dysfunction and ganglion cell anomalies
  • retinal dystrophy with inner nuclear layer and ganglion cell anomalies
adan amyloidosis
  • familial dementia, danish type
- elite association - COSMIC cancer census association via MalaCards
Search ITM2B in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

ITM2B_HUMAN
  • Cerebral amyloid angiopathy, ITM2B-related 1 (CAA-ITM2B1) [MIM:176500]: A disorder characterized by amyloid deposition in the walls of cerebral blood vessels and neurodegeneration in the central nervous system. Cerebral amyloid angiopathy, non-neuritic and perivascular plaques and neurofibrillary tangles are the predominant pathological lesions. Clinical features include progressive mental deterioration, spasticity and muscular rigidity. {ECO:0000269 PubMed:10391242, ECO:0000269 PubMed:10526337, ECO:0000269 PubMed:14656991}. Note=The disease is caused by mutations affecting the gene represented in this entry. A single base substitution at the stop codon of ITM2B generates a 277-residue precursor that is cleaved at the normal furin processing site to generate the ABri amyloidogenic peptide (PubMed:10391242). ABri accumulates in the brain and produces amyloid fibrils responsible for neuronal dysfunction and dementia. ABri peptide variant forms fibrils in vitro (PubMed:10526337). {ECO:0000269 PubMed:10391242, ECO:0000269 PubMed:10526337}.
  • Cerebral amyloid angiopathy, ITM2B-related 2 (CAA-ITM2B2) [MIM:117300]: A disorder characterized by amyloid deposition in the walls of the blood vessels of the cerebrum, choroid plexus, cerebellum, spinal cord and retina. Plaques and neurofibrillary tangles are observed in the hippocampus. Clinical features include progressive ataxia, dementia, cataracts and deafness. {ECO:0000269 PubMed:10781099, ECO:0000269 PubMed:14656991, ECO:0000269 PubMed:16091362}. Note=The disease is caused by mutations affecting the gene represented in this entry. A decamer duplication in the 3 region of ITM2B results in the production of the ADan amyloidogenic peptide (PubMed:10781099). ADan is generated by cleavage of the mutated precursor at the normal furin processing site. ADan accumulates in the brain and produces amyloid fibrils responsible for neuronal dysfunction and dementia. {ECO:0000269 PubMed:10781099}.
  • Retinal dystrophy with inner retinal dysfunction and ganglion cell abnormalities (RDGCA) [MIM:616079]: An autosomal dominant retinal dystrophy characterized by inner retinal dysfunction in association with ganglion cell abnormalities. Clinical features include mild photophobia, progressive loss of central vision, night blindness, and hyperreflectivity of nerve and ganglion cell layers. {ECO:0000269 PubMed:24026677}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for ITM2B

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
ITM2B
genes like me logo Genes that share disorders with ITM2B: view

No data available for Genatlas for ITM2B Gene

Publications for ITM2B Gene

  1. BRI2 homodimerizes with the involvement of intermolecular disulfide bonds. (PMID: 18440095) Tsachaki M. … Efthimiopoulos S. (Neurobiol. Aging 2010) 3 4 23 67
  2. cDNA sequence analysis, chromosomal assignment and expression pattern of the gene coding for integral membrane protein 2B. (PMID: 9795190) Pittois K. … Merregaert J. (Gene 1998) 2 3 23
  3. Regulated intramembrane proteolysis of Bri2 (Itm2b) by ADAM10 and SPPL2a/SPPL2b. (PMID: 17965014) Martin L. … Haass C. (J. Biol. Chem. 2008) 3 23
  4. Expression of BRI2 mRNA and protein in normal human brain and familial British dementia: its relevance to the pathogenesis of disease. (PMID: 18282158) Lashley T. … Holton J.L. (Neuropathol. Appl. Neurobiol. 2008) 3 23
  5. Genetic alterations of the BRI2 gene: familial British and Danish dementias. (PMID: 16612984) Ghiso J. … Frangione B. (Brain Pathol. 2006) 3 23

Products for ITM2B Gene

Sources for ITM2B Gene

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