ITM2B Gene
protein-coding GIFtS: 57
GCID: GC13P048807
|
|
integral membrane protein 2B
| |
Aliases
for ITM2B gene
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc,
7Ensembl,
8DME,
9miRBase,
and/or 10fRNAdb)
About This Section
|
| Aliases |
|---|
| Integral Membrane Protein 2B1 2 | | ImBRI21 | | BRI1 2 3 5 | | ABRI2 5 | | BRICD2B1 2 | | FBD2 5 | | E25B1 2 | | ABri/ADan Amyloid Peptide2 | | E3-161 2 | | BRICHOS Domain Containing 2B2 | | Immature BRI22 3 | | Bri3 | | Transmembrane Protein BRI2 3 | | Protein E25B3 | | BRI22 3 | | |
Export aliases for ITM2B gene to outside databasesPrevious GC identifers: GC13P046807 GC13P042794 GC13P047743 GC13P046605 GC13P046602 GC13P047705 GC13P029600 |
Summaries
for ITM2B gene(According to Entrez Gene,
Tocris Bioscience,
Wikipedia's
Gene Wiki,
PharmGKB,
UniProtKB/Swiss-Prot,
and/or
UniProtKB/TrEMBL)
About This Section
|
Entrez Gene summary for ITM2B:
Amyloid precursor proteins are processed by beta-secretase and gamma-secretase to produce beta-amyloid peptides whichform the characteristic plaques of Alzheimer disease. This gene encodes a transmembrane protein which is processed atthe C-terminus by furin or furin-like proteases to produce a small secreted peptide which inhibits the deposition ofbeta-amyloid. Mutations which result in extension of the C-terminal end of the encoded protein, thereby increasing thesize of the secreted peptide, are associated with two neurogenerative diseases, familial British dementia and familialDanish dementia. (provided by RefSeq, Oct 2009)
UniProtKB/Swiss-Prot: ITM2B_HUMAN, Q9Y287Function: Plays a regulatory role in the processing of the beta-amyloid A4 precursor protein (APP) and acts as aninhibitor of the beta-amyloid peptide aggregation and fibrils deposition. Plays a role in the induction of neuriteoutgrowth. Functions as a protease inhibitor by blocking access of secretases to APP cleavage sitesFunction: Mature BRI2 (mBRI2) functions as a modulator of the beta-amyloid A4 precursor protein (APP) processingleading to a strong reduction in the secretion of secretase-processed beta-amyloid protein 40 and beta-amyloid protein42Function: Bri23 peptide prevents aggregation of APP beta-amyloid protein 42 peptide into toxic oligomers
Gene Wiki entry for ITM2B
|
Genomic Views
for ITM2B gene
(According to
GeneLoc and/or
HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to
UCSC (hg19) and
Ensembl (release 69),
Regulatory elements and Epigenetics data according to
QIAGEN,
SABiosciences, and/or
SwitchGear Genomics)
About This Section
| RefSeq DNA sequence:- NC_000013.10 NC_018924.1 NT_024524.14
Regulatory elements:
 SABiosciences Regulatory transcription factor binding sites in the ITM2B gene promoter:
Brachyury AP-2gamma c-Rel Ik-2 POU2F1 POU2F1a AP-2beta AP-2alpha Ik-1 AP-2alphaA
Other transcription factors
Search SABiosciences Chromatin IP Primers for ITM2B
Epigenetics:
| | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat ITM2B |
Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track
Entrez Gene cytogenetic band: 13q14.3 Ensembl cytogenetic band: 13q14.2 HGNC cytogenetic band: 13q14.2ITM2B Gene in genomic location: bands according to Ensembl, locations according to
 (and/or Entrez Gene and/or Ensembl if different)
GeneLoc information about chromosome 13 GeneLoc Exon Structure GeneLoc location for GC13P048807: view genomic region
(about GC identifiers)
Start:
|
48,807,274 bp from pter |
End:
|
48,837,063 bp from pter |
Size:
|
29,790 bases |
Orientation:
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plus strand |
|
Proteins
for ITM2B gene
(According to
1UniProtKB,
HORDE,
neXtProt,
Ensembl,
and/or Reactome,
Modification sites according to 2PhosphoSitePlus,
Specific Peptides from DME,
Protein expression images according to data from SPIRE MOPED and PaxDb,
RefSeq according to NCBI,
PDB rendering according to OCA and/or Proteopedia,
Recombinant Proteins
from
EMD Millipore,
R&D Systems,
GenScript,
Enzo Life Sciences,
OriGene,
Novus Biologicals,
Sino Biological,
ProSpec, and/or
Uscn,
Biochemical Assays by
EMD Millipore,
R&D Systems,
OriGene,
GenScript,
Cell Signaling Technology,
Enzo Life Sciences, and/or
Uscn,
Ontologies according to Gene
Ontology Consortium 01 Mar 2013 and
Entrez Gene,
Antibodies by
EMD Millipore,
R&D Systems,
GenScript,
Cell Signaling Technology,
OriGene,
Novus Biologicals,
Thermo Fisher Scientific,
Abcam, and/or
Uscn)
About This Section
|
UniProtKB/Swiss-Prot: ITM2B_HUMAN, Q9Y287 (See
protein sequence)Recommended Name: Integral membrane protein 2B Size: 266 amino acids; 30338 Da
Subunit: 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 endocyticcompartments and enable alpha- and beta-secretase-induced APP cleavage inhibition. Mature BRI2 (mBRI2) interacts withthe APP C99; the interaction occurs in the endocytic compartments and enable gamma-secretase-induced C99 cleavageinhibition. May form heterodimers with Bri23 peptide and APP beta-amyloid protein 40
Subcellular location: 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 tothe plasma membrane and Bri23 peptide is secreted
Subcellular location: 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 reticulumcompartment to the cell membrane in order to be able to inhibit APP processing
Subcellular location: Bri23 peptide: Secreted. Note=Detected in the cerebral spinal fluid (CSF)
Subcellular location: BRI2C, soluble form: Secreted
Secondary accessions: Q9NYH1Explore the universe of human proteins at neXtProt for ITM2B: NX_Q9Y287
Post-translational modifications:
The ectodomain C-terminal part of the imBRI2 is processed by furin producing a secreted Bri23 peptide and a matureBRI2, membrane form (mBRI2). The remaining part of the ectodomain of mBRI2 containing the BRICHOS domain is cleaved byADAM10 and is secreted (BRI2C, soluble form). The membrane-bound N-terminal fragment (BRI2C, membrane form) is furtherproteolytically processed by SPPL2A and SPPL2B through regulated intramembrane proteolysis producing a secretedC-peptide and a BRI2 intracellular domain (BRI2 ICD) released in the cytosol. Shedding by ADAM10 facilitatesintramembrane cleavage but is not absolutely required for BRI2 ICD generation1
Glycosylation at Asn-170 is important for cell surface localization, but doesn't affect furin- and ADAM10-inducedproteolytic processing1
View modification sites using PhosphoSitePlus2View neXtProt modification sites for NX_Q9Y287
ITM2B Protein expression data from MOPED and PaxDb: About this image 
REFSEQ proteins: NP_068839.1
ENSEMBL proteins: ENSP00000367828 ENSP00000367811 Reactome Protein details: Q9Y287
Human Recombinant Protein Products:
Gene Ontology (GO): 5/9 cellular component terms (GO ID links to tree view) (see all 9): About this table
ITM2B for ontologies About GeneDecksing
ITM2B Antibody Products:
Assay Products for ITM2B: |
Protein
Domains /
Families
for ITM2B gene(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
|
ITM2B for domains About GeneDecksing
1 InterPro domain/family:Graphical View of Domain Structure for InterPro Entry Q9Y287ProtoNet protein and cluster: Q9Y287 1 Blocks protein family: IPB007084 BRICHOS domain
UniProtKB/Swiss-Prot: ITM2B_HUMAN, Q9Y287Similarity: Belongs to the ITM2 familySimilarity: Contains 1 BRICHOS domain |
Function
for ITM2B gene
(According to 1UniProtKB,
Genatlas,
LifeMap Discovery™,
IUBMB, and/or
2DME,
Human phenotypes from GenomeRNAi,
Animal models from MGI Mar 06 2013,
bound targets from SABiosciences,
miRNA Gene Targets from miRTarBase
shRNA from
OriGene,
RNAi from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
microRNA from QIAGEN,
Gene Editing from DNA2.0,
Clones from EMD Millipore,
OriGene,
SwitchGear Genomics,
GenScript,
Sino Biological,
DNA2.0,
and Vector BioLabs,
Cell Lines from GenScript,
LifeMap BioReagents,
In Situ Hybridization Assays from Advanced Cell Diagnostics,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene.)
About This Section
|
Function Summary:
UniProtKB/Swiss-Prot: ITM2B_HUMAN, Q9Y287Function: Plays a regulatory role in the processing of the beta-amyloid A4 precursor protein (APP) and acts as aninhibitor of the beta-amyloid peptide aggregation and fibrils deposition. Plays a role in the induction of neuriteoutgrowth. Functions as a protease inhibitor by blocking access of secretases to APP cleavage sitesFunction: Mature BRI2 (mBRI2) functions as a modulator of the beta-amyloid A4 precursor protein (APP) processingleading to a strong reduction in the secretion of secretase-processed beta-amyloid protein 40 and beta-amyloid protein42Function: Bri23 peptide prevents aggregation of APP beta-amyloid protein 42 peptide into toxic oligomers Genatlas biochemistry entry for ITM2B:integral membrane protein type 2B,ubiquitously expressed
Clone
Products: |  | Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore | |  | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for ITM2B (see all 3)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for ITM2B (see all 2)
OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling 
| |  | GenScript: all cDNA clones in your preferred vector: ITM2B (NM_021999) | |  | Browse Sino Biological Human cDNA Clones | |  | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for ITM2B | |  | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ITM2B |
In Situ Assay
Products: |
 | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ITM2B |
Gene Ontology (GO): 3 molecular function terms (GO ID links to tree view): About this table
ITM2B for ontologies About GeneDecksing
Animal Models:
Mouse knock-out Itm2btm1.1Ldad for ITM2B
3 MGI mutant phenotypes (inferred from 4 alleles ) (MGI details for Itm2b):
ITM2B for phenotypes About GeneDecksing
|
Pathways & Interactions
for ITM2B gene
(Pathways according to
EMD Millipore,
R&D Systems,
Cell Signaling Technology,
KEGG,
PharmGKB,
BioSystems,
Reactome,
Tocris Bioscience,
GeneGo (Thomson Reuters),
QIAGEN,
and/or UniProtKB,
Sets of similar genes according to GeneDecks,
Interaction Networks according to
SABiosciences,
and/or STRING,
Interactions according to 1UniProtKB,
2MINT,
3I2D, and/or
4STRING,
with links to IntAct and
Ensembl,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene).
About This Section
|
Unified GeneCards pathways About this table
See pathways by source
| Super-pathway | contained gene-specific pathways |
|---|
| 1 | Amyloid precursor proteins form ordered fibrils | | | 2 | IL-2 Signaling Pathway | | | 3 | Disease | |
Pathway sources
See GeneCards unified pathways
Show all pathways
1  BioSystems Pathway for ITM2B
3 
Reactome Pathways for ITM2B
ITM2B for pathways About GeneDecksing
Interactions:
SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for ITM2B
STRING Interaction
Network Preview (showing 5 interactants - click image to see 25)
5/27 Interacting proteins for ITM2B (Q9Y2873 ENSP000003678284) via UniProtKB, MINT, STRING, and/or I2D (see all 27)About this table
Gene Ontology (GO): 4 biological process terms (GO ID links to tree view): About this table
ITM2B for ontologies About GeneDecksing
|
Drugs & Compounds
for ITM2B gene(Chemical Compounds according to UniProtKB, Enzo Life Sciences,
EMD Millipore, Tocris Bioscience
HMDB,
BitterDB, and/or
Novoseek, and Drugs according to
DrugBank,
Enzo Life Sciences, and/or
PharmGKB, with drugs/clinical trials/news
search links to CenterWatch)
About This Section
|
ITM2B for compounds About GeneDecksing
 Browse Tocris compounds for ITM2B
1 Novoseek chemical compound relationship for ITM2B gene About this table
| Compound |
-log (P-Val) |
Hits |
PubMed IDs for Articles with Shared Sentences (# sentences) |
| pyroglutamate |
73.4 |
3 |
19518051 (2) |
Search CenterWatch for drugs/clinical trials and news about ITM2B
|
Transcripts
for ITM2B gene(Secondary structures according to
fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or
AceView,
transcript ids from Ensembl
with links to UCSC,
exon structure from GeneLoc,
alternative splicing isoforms according to ASD and/or
ECgene,
RNAi Products from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
shRNA from
OriGene,
microRNA from QIAGEN,
Tagged/untagged cDNA clones from
OriGene,
SwitchGear Genomics,
GenScript,
DNA2.0,
Vector BioLabs,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN
)
About This Section
|
REFSEQ mRNAs for ITM2B gene: NM_021999.4 Unigene Cluster for ITM2B: Integral membrane protein 2B Hs.643683 [show with all ESTs]Unigene Representative Sequence: BX5376573 Ensembl transcripts including schematic representations, and UCSC links where relevant: ENST00000378565(uc001vbz.3) ENST00000378549 ENST00000463839
Clone
Products: | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for ITM2B (see all 3)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for ITM2B (see all 2)
OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling
| | | GenScript: all cDNA clones in your preferred vector: ITM2B (NM_021999) | | | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for ITM2B | | | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ITM2B |
Additional cDNA sequence: AF086918.1 AF092128.1 AF136973.1 AF152462.1 AF246221.1 AK000503.1 AK027411.1 AK130048.1 BC000554.2 BC016148.1 BC018053.1 BT006863.1 BX537657.1 24/43 DOTS entries (see all 43): DT.453047 DT.92338432 DT.92466883 DT.95180619 DT.100890268 DT.100890301 DT.95174820 DT.97760134 DT.100890275 DT.120786014 DT.120786093 DT.100890290 DT.95174823 DT.100890302 DT.95174831 DT.100890304 DT.95197563 DT.102835936 DT.95345614 DT.100890305 DT.120786036 DT.100890269 DT.100890306 DT.120786076 24/1389 AceView cDNA sequences (see all 1389): CA421438 N40649 AA559007 AW338727 CD678467 CB119779 BF742104 CB216193 BQ636206 CB122919 AW206764 CB113872 BM785126 AI216370 T94398 CB119755 BM784691 CB118336 CB853587 CB163643 CA414948 H89318 AI366058 AA873283
GeneLoc Exon Structure
3 Alternative Splicing Database (ASD) splice patterns (SP) for ITM2B About this scheme
| ExUns: | 1a | · | 1b | ^ | 2 | ^ | 3 | ^ | 4 | ^ | 5 | ^ | 6a | · | 6b | ^ | 7 |
|---|
|
| SP1: | | | | | - | | | | | | | | | | | | | | |
| SP2: | | | | | | | | | | | | | | | | | | | |
| SP3: | | | | | - | | | | - | | - | | | | | | | |
ECgene alternative splicing isoforms for ITM2B
|
Expression
for ITM2B gene
(RNA expression data according to
H-InvDB,
NONCODE,
miRBase, and
RNAdb,
Expression images according to data from
BioGPS,
Illumina Human BodyMap, and
CGAP
SAGE,
Sets of similar genes according to GeneDecks,
in vivo and in vitro expression data from LifeMap Discovery™,
plus additional links to
Genevestigator, and/or
SOURCE, and/or
BioGPS, and/or
UniProtKB,
PCR Arrays from
SABiosciences,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN,
In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section
| ITM2B expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: TAAGTAGCAA
About this image
See ITM2B Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for ITM2B
SOURCE GeneReport for Unigene cluster: Hs.643683
UniProtKB/Swiss-Prot: ITM2B_HUMAN, Q9Y287Tissue specificity: Ubiquitous. Expressed in brain
SABiosciences Custom PCR Arrays for ITM2B
Primer
Products: | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for ITM2B
Browse OriGene validated miRNA SYBR primer pairs
| | | SABiosciences RT2 qPCR Primer Assay in human, mouse, rat ITM2B | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat ITM2B | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat ITM2B | In Situ
Assay Products: |
| Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ITM2B |
Orthologs
for ITM2B gene
(Orthologs according to
1,2HomoloGene (2older version, for species not in 1newer version),
3euGenes,
4SGD
,
5MGI Mar 06 2013,
with possible further links to
Flybase
and/or
WormBase,
and/or
6Ensembl pan taxonomic compara ,
Gene Trees according to Ensembl and
TreeFam)
About This Section
|
This gene was present in the common ancestor of animals.
Orthologs for ITM2B gene from 6/15 species (see all 15) About this table
| Organism |
Taxonomic
classification |
Gene |
Description |
Human
Similarity |
Orthology
Type |
Details |
chicken
(Gallus gallus) |
Aves |
ITM2B1 |
integral membrane protein 2B |
75.03(n)
76.06(a) |
|
395969 NM_205085.1 NP_990416.1 |
lizard
(Anolis carolinensis) |
Reptilia |
ITM2B6 |
-- |
77(a) |
1 ↔ 1 |
1(136938682-136948636) |
African clawed frog
(Xenopus laevis) |
Amphibia |
itm2b-prov2 |
integral membrane protein 2B |
77.5(n) |
|
BC042345.1 |
zebrafish
(Danio rerio) |
Actinopterygii |
wufc05f022 |
wufc05f02 |
73.75(n) |
|
323632 BC044480.1 |
fruit fly
(Drosophila melanogaster) |
Insecta |
CG36626 |
-- |
18(a) |
1 → many |
2L(821422-824337) |
worm
(Caenorhabditis elegans) |
Secernentea |
C25F6.76 |
Protein C25F6.7, isoform b |
17(a) |
1 → many |
X(5445037-5447998) |
ENSEMBL Gene Tree for ITM2B (if available)
TreeFam Gene Tree for ITM2B (if available) |
Paralogs
for ITM2B gene(Paralogs according to
1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
About This Section
| Paralogs for ITM2B gene
- ITM2C2 ITM2A2
2 SIMAP similar genes for ITM2B using alignment to 4 protein entries: ITM2B_HUMAN (see all proteins):ITM2A ITM2C
ITM2B for paralogs About GeneDecksing
1 Pseudogenes.org Pseudogene for ITM2B
PGOHUM00000236999
|
Genomic Variants
for ITM2B gene(SNPs/Variants according to the
1NCBI SNP Database,
2Ensembl,
3PupaSUITE,
UniProtKB, and
DNA2.0,
Linkage Disequilibrium by HapMap,
Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene
Mutation Database (HGMD) and the Locus Specific Mutation
Databases (LSDB), Blood group antigen gene mutations by BGMUT,
Resequencing Primers from QIAGEN,
Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section
|
| Genomic Data | Transcription Related Data | Allele Frequencies | | SNP ID | Valid | Clinical
significance | Chr 13 pos | Sequence | # | AA
Chg | Type | More | # | Allele
freq | Pop | Total
sample | More |
|---|
HapMap Linkage Disequilibrium report for ITM2B (48807274 - 48837063 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV) variations for ITM2B: --
Human Gene Mutation Database (HGMD): ITM2B
| SABiosciences Cancer Mutation PCR Assays |
| | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing ITM2B |
|
Disorders
/ Diseases
for ITM2B gene
(in which this Gene is Involved, According to MalaCards,
OMIM, UniProtKB,
the University of Copenhagen DISEASES
database, Novoseek,
Genatlas, GeneTests,
GAD,
HuGE Navigator,
and/or TGDB.)
About This Section
|
ITM2B for disorders About GeneDecksing
OMIM gene information: 603904
OMIM disorders: 176500 117300
UniProtKB/Swiss-Prot: ITM2B_HUMAN, Q9Y287
Defects in ITM2B are a cause of cerebral amyloid angiopathy ITM2B-related type 1 (CAA-ITM2B1) [MIM:176500]. Adisorder characterized by amyloid deposition in the walls of cerebral blood vessels and neurodegeneration in thecentral nervous system. Cerebral amyloid angiopathy, non-neuritic and perivascular plaques and neurofibrillary tanglesare the predominant pathological lesions. Clinical features include progressive mental deterioration, spasticity andmuscular rigidity. Note=ABri amyloidogenic peptide variant is cleaved at the normal furin processing site to generatepeptide that accumulates in the brain and produces amyloid fibrils responsible for neuronal dysfunction and dementia.ABri peptide variant forms fibrila in vitro Defects in ITM2B are a cause of cerebral amyloid angiopathy ITM2B-related type 2 (CAA-ITM2B2) [MIM:117300];also known as heredopathia ophthalmo-oto-encephalica. A disorder characterized by amyloid deposition in the walls ofthe blood vessels of the cerebrum, choroid plexus, cerebellum, spinal cord and retina. Plaques and neurofibrillarytangles are observed in the hippocampus. Clinical features include progressive ataxia, dementia, cataracts anddeafness. Note=ADan amyloidogenic peptide variant is cleaved at the normal furin processing site to generate peptidethat accumulates in the brain and produces amyloid fibrils responsible for neuronal dysfunction and dementia
20  diseases for ITM2B: About MalaCardsdementia, familial danish dementia dementia familial british alzheimer's disease
cerebral amyloid angiopathy sick building syndrome irritable bowel syndrome functional diarrhea
neurodegenerative disease alzheimer disease familial diarrhea neurodegeneration
multiple sclerosis amyloidosis cerebritis spasticity
lung adenocarcinoma choroiditis adenocarcinoma ataxia
3 diseases from the University of Copenhagen DISEASES database for ITM2B:Amyloidosis Alzheimer's disease Inflammatory bowel disease 9 Novoseek disease relationships for ITM2B gene About this table
| Disease |
-log (P-Val) |
Hits |
PubMed IDs for Articles with Shared Sentences (# sentences) |
| dementia, familial danish |
99 |
7 |
15182222 (1), 17029605 (1), 12566161 (1), 18477478 (1) (see all 7) |
| dementia, familial british |
99 |
11 |
14586629 (2), 18282158 (2), 10526337 (1), 12883829 (1) (see all 9) |
| cerebral amyloid angiopathy |
89.2 |
3 |
15152461 (1), 11159188 (1), 18282158 (1) |
| familial dementia |
80.5 |
2 |
16246057 (1), 15983050 (1) |
| dementia |
71.5 |
20 |
16612984 (2), 11290423 (2), 12196136 (1), 16141213 (1) (see all 14) |
| neurodegenerative diseases |
68.5 |
7 |
10526337 (1), 16027166 (1), 17029605 (1), 12566161 (1) (see all 7) |
| alzheimers disease |
68 |
4 |
14586629 (1), 11290423 (1), 18282158 (1) |
| neurodegeneration |
66 |
5 |
16246057 (1), 11290423 (1), 18440095 (1) |
| senile plaques |
64.4 |
2 |
14586629 (1), 11159188 (1) |
Export disorders for ITM2B gene to outside databases
|
Publications
for ITM2B gene (in
PubMed.
Associations of this gene to articles via
1Entrez Gene,
2UniProtKB/Swiss-Prot,
3HGNC,
4GAD,
5PharmGKB,
6HMDB,
7DrugBank,
8UniProtKB/TrEMBL,
9 Novoseek, and/or
10fRNAdb)
About This Section
|
PubMed articles for ITM2B gene, integrated from 9 sources (see all 78):
(articles sorted by number of sources associating them with ITM2B) | |  | Utopia: connect your pdf to the dynamic
world of online information |
- BRI2 homodimerizes with the involvement of intermolec ular disulfide bonds. (PubMed id 18440095)1, 2, 9 Tsachaki M....Efthimiopoulos S. (2010)
- Regulated intramembrane proteolysis of Bri2 (Itm2b) by ADAM10 and SPPL2a/SPPL2b. (PubMed id 17965014)1, 2, 9 Martin L....Haass C. (2008)
- BRI2 interacts with amyloid precursor protein (APP) and regulates amyloid beta (Abeta) production. (PubMed id 16027166)1, 2, 9 Fotinopoulou A....Efthimiopoulos S. (2005)
- The familial dementia BRI2 gene binds the Alzheimer gene amyloid-beta precursor protein and inhibits amyloid-beta production. (PubMed id 15983050)1, 2, 9 Matsuda S.... D'Adamio L. (2005)
- A decamer duplication in the 3' region of the BRI gene originates an amyloid peptide that is associated with dementia in a Danish kindred. (PubMed id 10781099)1, 2, 9 Vidal R.... Frangione B. (2000)
- A stop-codon mutation in the BRI gene associated with familial British dementia. (PubMed id 10391242)1, 2, 9 Vidal R....Ghiso J. (1999)
- Furin mediates enhanced production of fibrillogenic ABri peptides in familial British dementia. (PubMed id 10526337)1, 2, 9 Kim S.H....Sisodia S.S. (1999)
- cDNA sequence analysis, chromosomal assignment and expression pattern of the gene coding for integral membrane protein 2B. (PubMed id 9795190)1, 3, 9 Pittois K....Merregaert J. (1998)
- Axonal transport of British and Danish amyloid peptides via secretory vesicles. (PubMed id 14656991)1, 2, 9 Choi S.I....Levy E. (2004)
- The alpha-helical content of the transmembrane domain of the British dementia protein-2 (Bri2) determines its processing by signal peptide peptidase-like 2b (SPPL2b). (PubMed id 22194595)1, 2 Fluhrer R.... Haass C. (2012)
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External Searches for ITM2B gene
(in PubMed,
OMIM, and NCBI Bookshelf)
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Genome Databases showing ITM2B gene
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
Kegg,
and/or
H-InvDB)
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Other Databases showing ITM2B gene
(According to HUGE)
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Specialized Databases showing ITM2B gene(According to PharmGKB,
ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
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| Patent Information for ITM2B gene:
Search GeneIP for patents involving ITM2B
GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
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Products
for ITM2B gene(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or
Enzo Life Sciences),
In Situ Hybridization Assays from
Advanced Cell Diagnostics
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| | |  | OriGene Antibodies for ITM2B | | OriGene shRNA RFP for ITM2B | | | OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for ITM2B | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for ITM2B | | | OriGene Protein Over-expression Lysate for ITM2B | | Browse OriGene Fluorogenic Cell Assay Kits | | | OriGene siRNA for ITM2B | | OriGene 3'-UTR Clone for ITM2B | | | OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for ITM2B | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for ITM2B | | | Browse OriGene GFP tagged cDNA clones in CMV expression vector | | Browse OriGene MicroRNA Expression Plasmids | | | Browse OriGene basic RS shRNAs | | Browse OriGene validated miRNA SYBR primer pairs | | | OriGene Purified Protein for ITM2B | | OriGene custom cloning services - gene synthesis, subcloning, mutagenesis,
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| | | QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat ITM2B | | | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing ITM2B | | | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat ITM2B | | | QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat ITM2B | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat ITM2B | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat ITM2B |
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| | | | | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ITM2B |
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| | | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ITM2B |
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