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Aliases & Descriptions for ITM2B
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc
, and/or 7Ensembl,
8miRBase) About This Section
|
| Aliases |
|---|
| ABRI 2, 5 | | BRI 1, 2, 3, 5 | | BRI2 2, 3 | | BRICD2B 2 | | E25B 1, 2 | | E3-16 1, 2 | | FBD 2, 5 | | OTTHUMP00000018394 2 |
| | | Descriptions |
|---|
| BRICHOS domain containing 2B 2 | | Transmembrane protein BRI 3 | | integral membrane protein 2B 2 |
|
| | Search outside databases for aliases for ITM2B genePrevious GC identifers: GC13P046807 GC13P042794 GC13P047743 GC13P046605 GC13P046602 |
Summaries for ITM2B(According to Entrez Gene,
Wikipedia's
Gene Wiki,
UniProtKB/Swiss-Prot,
and/or
UniProtKB/TrEMBL)
About This Section
| -- |
Genomic Location for ITM2B
(According to
GeneLoc and/or
HGNC, and/or
Entrez Gene (NCBI build 36),
and/or miRBase,
Genomic Views according to
UCSC and
Ensembl,
Transcription factor binding sites according to
SABiosciences) About This Section
| Genomic View: UCSC Golden Path with GeneCards custom track
Transcription factor binding sites upstream to the ITM2B gene 
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 gene densities for chromosome 13 GeneLoc Exon Structure GeneLoc location for GC13P047705:
(about GC identifiers)
Start:
|
47,705,309 bp from pter |
End:
|
47,734,228 bp from pter |
Size:
|
28,920 bases |
Orientation:
|
plus strand |
RefSeq DNA sequence:- NC_000013.9 NT_024524.13
| Proteins for ITM2B
(According to
1UniProtKB,
and/or Ensembl,
Phosphorylation sites according to 2Phosphosite,
RefSeq according to NCBI,
PDB rendering according to OCA and/or Proteopedia,
Recombinant Proteins
from Invitrogen,
Millipore,
Sigma-Aldrich,
R&D Systems,
Enzo Life Sciences,
Abnova,
OriGene and/or,
Abcam,
Biochemical Assays by
Invitrogen,
Millipore,
R&D Systems,
Cell Signaling Technology, and/or
Enzo Life Sciences,
Ontologies according to Gene
Ontology Consortium 01 Apr 2009 and
Entrez Gene,
Antibodies by Invitrogen,
Millipore,
Sigma-Aldrich,
R&D Systems,
Cell Signaling Technology,
Abcam,
Abnova, and/or
Novus Biologicals)
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: Interacts with SPPL2A and SPPL2B
Subcellular location: Golgi apparatus membrane; Single-pass type II membrane protein
Secondary accessions: Q9NYH1Post-translational modifications:
The C-terminal part of the ectodomain is processed by furin and related proteases producing a secreted peptide of 4 to 5 kDa. For the FBD ABRI and FDD ADAN variants the C-terminal secreted peptide is larger and may produce amyloid fibrils responsible for neuronal dysfunction and dementia. The remaining part of the ectodomain containing the BRICHOS domain is cleaved by ADAM10 and is secreted as a peptide of 25 kDa. The membrane-bound N-terminal fragment (NTF) of 22 kDa is further proteolytically processed by SPPL2A and SPPL2B through regulated intramembrane proteolysis producing a secreted peptide (BRI2C) and an intracellular domain (ICD) released in the cytosol1
View phosphorylation sites using PhosphoSite2
REFSEQ proteins: NP_068839.1
ENSEMBL proteins: ENSP00000367828 ENSP00000367811
Human Recombinant Proteins Browse Origene for full length recombinant human proteins expressed in human HEK293 cells 
4 Gene Ontology (GO) cellular component terms (links to tree view): About this table
Antibodies for ITM2B: Assays for ITM2B: | Protein
Domains/ Families for ITM2B(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
| - Graphical View of Domain Structure for InterPro Entry Q9Y287
ProtoNet 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 | Gene Function for ITM2B
(According to MGI Jun 06 2009, UniProtKB,
IUBMB,and/or Genatlas,
shRNA from
OriGene,
Sigma-Aldrich, RNAi from
Sigma-Aldrich,
RNAi Products,
Clones, and
Q-PCR Products
from Invitrogen,
Millipore,
OriGene, and/or
Abnova,
siRNAs from
Applied Biosystems,
SYBR primers from OriGene,
Cell-based Assays from Millipore,
Ontologies according to Gene Ontology Consortium 01 Apr 2009 via
Entrez Gene.)
About This Section
|               OriGene 29mer shRNA kit in GFP-retroviral vector: NM_021999
Applied Biosystems Silencer® siRNAs for ITM2B
Sigma-Aldrich siRNA and siRNA Panels for ITM2B  Sigma-Aldrich shRNA for ITM2B  Explore Sigma-Aldrich super-pooled esiRNAs 
              OriGene GFP tagged cDNA clone in CMV expression vector: NM_021999                                  Myc/DDK tagged cDNA clone in CMV expression vector: NM_021999                                  untagged cDNA clones in CMV expression vector (see all 2): NM_021999 
Primers: Browse
Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers               OriGene genome-wide validated SYBR primer pairs: NM_021999
Genatlas biochemistry entry for ITM2B:integral membrane protein type 2B,ubiquitously expressed2 MGI mutant phenotypes (inferred from 2 alleles ) (MGI details for Itm2b):
| Pathways & Interactions for ITM2B
(Pathways according to Invitrogen
(maps by GeneGo),
Millipore,
Cell Signaling Technology,
Sigma-Aldrich,
KEGG
and/or UniProtKB,
Sets of similar genes according to GeneDecks,
Proteins Network according to
SABiosciences,
Interactions according to 1UniProtKB,
2MINT, and/or
3STRING,
with links to IntAct and
Ensembl,
Ontologies according to Gene Ontology Consortium 01 Apr 2009 via
Entrez Gene.)
About This Section
|
Gene Network CentralTM Interacting Genes and Proteins Network for ITM2B 
5/7 Interacting proteins for ITM2B (ENSP000003678283) via UniProtKB, MINT, and/or STRING (see all 7
)About this table
2 Gene Ontology (GO) biological process terms (links to tree view): About this table
|
Drugs & Compounds for ITM2B(Chemical Compounds according to UniProtKB, Enzo Life Sciences,
Sigma-Aldrich, Tocris Bioscience, and/or
Novoseek and Drugs according to
Enzo Life Sciences and/or
PharmGKB)
About This Section
|
Browse Tocris compounds for ITM2B
|
Transcripts for ITM2B(GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 219 Homo sapiens; Jun 2 2009) or GenBank, RefSeq according to Entrez Gene,
DOTS (version 10), and/or
AceView,
non coding RNAs according to
RNAdb,
ESTs according to GeneTide,
exon structure from GeneLoc,
alternative splicing isoforms according to ASD and/or
ECgene,
RNAi Products from Invitrogen,
Millipore, and/or
Abnova,
siRNAs from Applied Biosystems,
Sigma-Aldrich,
shRNA from
Sigma-Aldrich,
OriGene,
Tagged/untagged cDNA clones from
OriGene) About This Section
|               OriGene 29mer shRNA kit in GFP-retroviral vector: NM_021999
Sigma-Aldrich siRNA and siRNA Panels for ITM2B  Sigma-Aldrich shRNA for ITM2B  Explore Sigma-Aldrich super-pooled esiRNAs 
REFSEQ mRNAs for ITM2B gene: NM_021999.4               OriGene GFP tagged cDNA clone in CMV expression vector: NM_021999                                  Myc/DDK tagged cDNA clone in CMV expression vector: NM_021999                                  untagged cDNA clones in CMV expression vector (see all 2): NM_021999  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 CR590893.1 CR592908.1 CR593958.1 CR594037.1 CR594079.1 CR594256.1 CR595747.1 CR598047.1 CR599660.1 CR599825.1 CR599884.1 CR603570.1 CR606888.1 CR608090.1 CR610320.1 CR610712.1 CR612400.1 CR613483.1 CR617212.1 CR618055.1 CR619102.1 CR620534.1 CR620837.1 CR621556.1 CR621906.1 CR625796.1 CR626358.1 24/38 DOTS entries (see all 38
): DT.453047 DT.92466883 DT.95180619 DT.92338432 DT.100890268 DT.100890301 DT.95174820 DT.100890275 DT.120786014 DT.100890304 DT.95197563 DT.100890290 DT.102835936 DT.120786093 DT.95345614 DT.100890302 DT.120786036 DT.95174823 DT.95174831 DT.100890305 DT.100890306 DT.120786076 DT.91984220 DT.92352650 24/1389 AceView cDNA sequences (see all 1389
):CD367541 AI624978 AI473615 CD518851 AI363736 CR608090 H43894 T31525 AW027859 CB119292 CD517634 T30142 AW167058 CB122895 H88747 AA630492 CR613483 CB121865 AI912364 CR612400 CA395865 BP381737 AI025980 CD367861
highest scoring ESTs for ITM2B:AI499172 AI638576 AA046071 AA135881 AA327418 AA384702 AA586771 AA746260 AA843944 AA852819 Unigene Cluster for ITM2B: Integral membrane protein 2B Hs.643683 [show with all ESTs]Unigene Representative Sequence: BX537657
GeneLoc Exon Structure
3 Alternative Splicing Database (ASD) splice patterns (SP) for ITM2B
| ExUns: | 1a | · | 1b | ^ | 2 | ^ | 3 | ^ | 4 | ^ | 5 | ^ | 6a | · | 6b | ^ | 7 | |
| SP1: | |   | |   | - |   | |   | |   | |   | |   | |   | |   | |
| SP2: | |   | |   | |   | |   | |   | |   | |   | |   | |   | |
| SP3: | |   | |   | - |   | |   | - |   | - |   | |   | |   | |   |
About this scheme
ECgene alternative splicing isoforms for ITM2B
2 Ensembl transcripts including schematic representations: ENST00000378565
ENST00000378549
|
Expression for ITM2B
(Experimental results according to
1GeneNote
and GNF BioGPS,
probe sets-to-genes annotations according to
2GeneAnnot ,
3GeneTide ,
Sets of similar genes according to GeneDecks,
Electronic Northern calculations according to data from
UniGene (Build 219 Homo sapiens),
SAGE tags according to
CGAP,
plus additional links to
SOURCE, and/or
GNF
BioGPS, and/or
EXPOLDB, and/or
UniProtKB,
Expression Assays from
Applied Biosystems
)
About This Section
| ITM2B expression in normal and diseased human tissues
Applied Biosystems TaqMan ® Gene Expression Assays for ITM2B
1 / 2 / 3 9 probe-sets matching ITM2B gene Data from
(Publications) and GNF BioGPS About these images About these images
CGAP SAGE TAG: TAAGTAGCAA
SOURCE GeneReport for Unigene cluster: Hs.643683
Expression variation in blood from EXPOLDB for ITM2B UniProtKB/Swiss-Prot: ITM2B_HUMAN, Q9Y287Tissue specificity: Expressed in brain and in other tissues |
Orthologs for ITM2B
(Orthologs according to
1,2HomoloGene (2older version, for species not in 1newer version),
3euGenes,
4SGD
and/or
5MGI Jun 06 2009,
with possible further links to
Flybase
and/or
WormBase,
Gene Trees according to Ensembl)
About This Section
|
Orthologs for ITM2B gene from 5/10 species (see all 10
)
About this table Species with no ortholog for ITM2B
ENSEMBL Gene Tree for ITM2B | Paralogs for ITM2B(Paralogs according to 1HomoloGene and 2Ensembl, Pseudogenes according to 3Pseudogene.org) About This Section
| Paralogs for ITM2B gene
- ITM2A2 ITM2C2
Pseudogenes
- 1 related pseudogene
|
SNPs/Variants for ITM2B(According to the
1NCBI SNP Database,
2Ensembl,
3PupaSUITE, and
UniProtKB,
Linkage Disequilibrium by HapMap,
Genotyping Reagents from
Applied Biosystems)
About This Section
|
HapMap Linkage Disequilibrium images for ITM2B (up to first 250kb)
|
Disorders & Mutations for ITM2B
(in which this Gene is Involved, According to
OMIM, UniProtKB,
Novoseek, PharmGKB,
Genatlas, GeneTests,
Blood group antigen gene mutations by BGMUT,
HGMD, GAD,
HuGE Navigator,
BCGD,
and/or TGDB.)
About This Section
|
OMIM: 603904 disorders: 176500 117300 UniProtKB/Swiss-Prot: ITM2B_HUMAN, Q9Y287
Defects in ITM2B may be associated with familial British dementia (FBD) [MIM:176500]. FBD is an autosomal dominant disease characterized by progressive dementia, spasticity, and cerebellar ataxia, with onset at around the fifth decade of life. Cerebral amyloid angiopathy, non-neuritic and perivascular plaques and neurofibrillary tangles are the predominant pathological lesions Defects in ITM2B may be associated with familial Danish dementia (FDD) [MIM:117300]; also known as heredopathia ophthalmo-oto-encephalica. FDD is an autosomal dominant disorder characterized by cataracts, deafness, progressive ataxia, and dementia. Neuropathological findings include severe widespread cerebral amyloid angiopathy, hippocampal plaques, and neurofibrillary tangles, similar to Alzheimer disease9 Novoseek disease relationships for ITM2B gene
| Disease |
Score |
Articles |
PubMed IDs for Articles with Shared Sentences (# sentences) |
| dementia, familial british |
99.06 |
11 |
14586629 (2), 18282158 (2), 10526337 (1), 12883829 (1) (see all 9) |
| dementia, familial danish |
99.01 |
7 |
15182222 (1), 17029605 (1), 12566161 (1), 18477478 (1) (see all 7) |
| cerebral amyloid angiopathy |
89.29 |
3 |
15152461 (1), 11159188 (1), 18282158 (1) |
| familial dementia |
81.72 |
2 |
16246057 (1), 15983050 (1) |
| dementia |
71.05 |
18 |
16612984 (2), 11290423 (2), 12196136 (1), 16141213 (1) (see all 12) |
| neurodegenerative diseases |
67.29 |
7 |
10526337 (1), 16027166 (1), 17029605 (1), 12566161 (1) (see all 7) |
| alzheimers disease |
66.81 |
4 |
14586629 (1), 11290423 (1), 18282158 (1) |
| neurodegeneration |
66.60 |
4 |
16246057 (1), 11290423 (1) |
| senile plaques |
66.11 |
2 |
14586629 (1), 11159188 (1) |
About this table
1 PharmGKB disease relationship for ITM2B geneAbout this table
Human Gene Mutation Database: ITM2B
|
Medical News for ITM2B(Possibly Related Articles in
Doctor's Guide)
About This Section
| -- |
Publications for ITM2B (in
PubMed.
Associations of this gene to articles via
1Novoseek,
2HGNC,
3Entrez Gene,
4UniProtKB/Swiss-Prot,
5UniProtKB/TrEMBL,
6GAD, and/or
7PharmGKB)
About This Section
| 10/51 PubMed articles for ITM2B gene (see all 51
):- Regulated intramembrane proteolysis of Bri2 (Itm2b) by ADAM10 and SPPL2a/SPPL2b. (PubMed id 17965014)1, 3, 4 Martin L....Haass C. (2008)
- 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, 3, 4 Vidal R.... Frangione B. (2000)
- A stop-codon mutation in the BRI gene associated with familial British dementia. (PubMed id 10391242)1, 3, 4 Vidal R....Ghiso J. (1999)
- cDNA sequence analysis, chromosomal assignment and expression pattern of the gene coding for integral membrane protein 2B. (PubMed id 9795190)1, 2, 3 Pittois K....Merregaert J. (1998)
- The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)3, 4 Gerhard D.S....Malek J. (2004)
- Gene expression profiling in the human hypothalamus-pituitary-adrenal axis and full-length cDNA cloning. (PubMed id 10931946)3, 4 Hu R.-M.... Chen J.-L. (2000)
- Expression of BRI, the normal precursor of the amyloid protein of familial British dementia, in human brain. (PubMed id 14586629)1, 3 Akiyama H....McGeer P.L. (2004)
- Expression of BRI2 mRNA and protein in normal human brain and familial British dementia: its relevance to the pathogenesis of disease. (PubMed id 18282158)1, 3 Lashley T....Holton J.L. (2008)
- BRI2 interacts with amyloid precursor protein (APP) and regulates amyloid beta (Abeta) production. (PubMed id 16027166)1, 3 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, 3 Matsuda S....D'Adamio L. (2005)
|
Search for ITM2B
(in PubMed,
OMIM, and NCBI Bookshelf) About This Section
|
|
Genome Databases showing ITM2B
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
and/or
H-InvDB)
About This Section
|
| Other Databases showing ITM2B
(According to HUGE)
About This Section
| -- |
Specialized Databases showing ITM2B(According to ATLAS, HORDE, IMGT, MTDB, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL, Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot) About This Section
|
| About This Section
| --
| Services for ITM2B(Reagents available from Applied Biosystems, Antibodies and assays by Cell
Signaling Technology, Abcam, Novus Biologicals, Sigma-Aldrich, R&D Systems, Millipore, Abnova, and/or Invitrogen, Clones available from OriGene,and/or Invitrogen, Drugs and/or compounds by Sigma-Aldrich, Enzo Life Sciences, and/or Tocris Bioscience) About This Section
| 
 Products for ITM2B:

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