Details for: ITM2B

Gene ID: 9445

Symbol: ITM2B

Ensembl ID: ENSG00000136156

Description: integral membrane protein 2B

Associated with

Cells (max top 100)

(Marker Scores and respective Thresholds are uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: alveolar capillary type 1 endothelial cell (CL4028002)
    Fold Change: 5.73
    Marker Score: 14,563
  • Cell Name: endocardial cell (CL0002350)
    Fold Change: 5.39
    Marker Score: 3,049
  • Cell Name: thyroid follicular cell (CL0002258)
    Fold Change: 5.01
    Marker Score: 3,919
  • Cell Name: kidney loop of Henle thick ascending limb epithelial cell (CL1001106)
    Fold Change: 4.85
    Marker Score: 12,994
  • Cell Name: mature T cell (CL0002419)
    Fold Change: 4.73
    Marker Score: 46,857
  • Cell Name: alveolar capillary type 2 endothelial cell (CL4028003)
    Fold Change: 4.57
    Marker Score: 6,620
  • Cell Name: theca cell (CL0000503)
    Fold Change: 4.56
    Marker Score: 3,270
  • Cell Name: kidney collecting duct principal cell (CL1001431)
    Fold Change: 4.46
    Marker Score: 11,253
  • Cell Name: epithelial cell of proximal tubule (CL0002306)
    Fold Change: 4.42
    Marker Score: 15,697
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: 4.3
    Marker Score: 5,197
  • Cell Name: basal cell of prostate epithelium (CL0002341)
    Fold Change: 4.23
    Marker Score: 10,340
  • Cell Name: mature alpha-beta T cell (CL0000791)
    Fold Change: 4.21
    Marker Score: 222,846
  • Cell Name: lung endothelial cell (CL1001567)
    Fold Change: 4.21
    Marker Score: 36,959
  • Cell Name: mature gamma-delta T cell (CL0000800)
    Fold Change: 4.18
    Marker Score: 13,186
  • Cell Name: uterine smooth muscle cell (CL0002601)
    Fold Change: 4.18
    Marker Score: 5,440
  • Cell Name: CD14-positive, CD16-negative classical monocyte (CL0002057)
    Fold Change: 4.17
    Marker Score: 233,385
  • Cell Name: kidney interstitial cell (CL1000500)
    Fold Change: 4.14
    Marker Score: 2,947
  • Cell Name: renal intercalated cell (CL0005010)
    Fold Change: 4.14
    Marker Score: 2,206
  • Cell Name: microfold cell of epithelium of small intestine (CL1000353)
    Fold Change: 4.13
    Marker Score: 988
  • Cell Name: glycinergic amacrine cell (CL4030028)
    Fold Change: 4.12
    Marker Score: 3,890
  • Cell Name: renal interstitial pericyte (CL1001318)
    Fold Change: 4.11
    Marker Score: 3,919
  • Cell Name: secretory cell (CL0000151)
    Fold Change: 4.11
    Marker Score: 7,494
  • Cell Name: fibroblast of mammary gland (CL0002555)
    Fold Change: 4.07
    Marker Score: 138,573
  • Cell Name: fibroblast of connective tissue of nonglandular part of prostate (CL1000304)
    Fold Change: 4.07
    Marker Score: 3,467
  • Cell Name: pulmonary artery endothelial cell (CL1001568)
    Fold Change: 4.04
    Marker Score: 3,474
  • Cell Name: granulocyte (CL0000094)
    Fold Change: 4
    Marker Score: 1,793
  • Cell Name: decidual natural killer cell, human (CL0002343)
    Fold Change: 3.97
    Marker Score: 10,961
  • Cell Name: T-helper 22 cell (CL0001042)
    Fold Change: 3.94
    Marker Score: 16,889
  • Cell Name: basal cell of epithelium of trachea (CL1000348)
    Fold Change: 3.92
    Marker Score: 29,202
  • Cell Name: capillary endothelial cell (CL0002144)
    Fold Change: 3.89
    Marker Score: 4,181
  • Cell Name: endothelial cell (CL0000115)
    Fold Change: 3.88
    Marker Score: 3,476
  • Cell Name: neutrophil (CL0000775)
    Fold Change: 3.83
    Marker Score: 2,332
  • Cell Name: NKp46-positive innate lymphoid cell, human (CL0001076)
    Fold Change: 3.82
    Marker Score: 11,149
  • Cell Name: fibroblast (CL0000057)
    Fold Change: 3.81
    Marker Score: 3,678
  • Cell Name: CD4-positive, alpha-beta memory T cell (CL0000897)
    Fold Change: 3.81
    Marker Score: 2,232
  • Cell Name: CD8-positive, alpha-beta memory T cell, CD45RO-positive (CL0001203)
    Fold Change: 3.8
    Marker Score: 10,671
  • Cell Name: naive T cell (CL0000898)
    Fold Change: 3.8
    Marker Score: 2,448
  • Cell Name: endothelial cell of vascular tree (CL0002139)
    Fold Change: 3.76
    Marker Score: 5,460
  • Cell Name: central memory CD8-positive, alpha-beta T cell (CL0000907)
    Fold Change: 3.76
    Marker Score: 9,163
  • Cell Name: supporting cell (CL0000630)
    Fold Change: 3.73
    Marker Score: 7,013
  • Cell Name: type I pneumocyte (CL0002062)
    Fold Change: 3.72
    Marker Score: 4,486
  • Cell Name: central nervous system macrophage (CL0000878)
    Fold Change: 3.72
    Marker Score: 1,851
  • Cell Name: CD8-positive, alpha-beta memory T cell (CL0000909)
    Fold Change: 3.69
    Marker Score: 3,135
  • Cell Name: intraepithelial lymphocyte (CL0002496)
    Fold Change: 3.68
    Marker Score: 4,094
  • Cell Name: epithelial cell of uterus (CL0002149)
    Fold Change: 3.67
    Marker Score: 841
  • Cell Name: CD4-positive, alpha-beta cytotoxic T cell (CL0000934)
    Fold Change: 3.66
    Marker Score: 3,217
  • Cell Name: rod bipolar cell (CL0000751)
    Fold Change: 3.65
    Marker Score: 1,908
  • Cell Name: lung macrophage (CL1001603)
    Fold Change: 3.65
    Marker Score: 4,174
  • Cell Name: cortical cell of adrenal gland (CL0002097)
    Fold Change: 3.62
    Marker Score: 64,329
  • Cell Name: kidney loop of Henle thin ascending limb epithelial cell (CL1001107)
    Fold Change: 3.62
    Marker Score: 3,670
  • Cell Name: medullary thymic epithelial cell (CL0002365)
    Fold Change: 3.61
    Marker Score: 5,926
  • Cell Name: activated CD8-positive, alpha-beta T cell (CL0000906)
    Fold Change: 3.61
    Marker Score: 2,619
  • Cell Name: bronchial epithelial cell (CL0002328)
    Fold Change: 3.6
    Marker Score: 954
  • Cell Name: effector memory CD8-positive, alpha-beta T cell, terminally differentiated (CL0001062)
    Fold Change: 3.6
    Marker Score: 5,294
  • Cell Name: myofibroblast cell (CL0000186)
    Fold Change: 3.59
    Marker Score: 4,434
  • Cell Name: platelet (CL0000233)
    Fold Change: 3.59
    Marker Score: 1,626
  • Cell Name: podocyte (CL0000653)
    Fold Change: 3.58
    Marker Score: 1,323
  • Cell Name: interstitial cell of ovary (CL0002094)
    Fold Change: 3.55
    Marker Score: 23,076
  • Cell Name: effector CD8-positive, alpha-beta T cell (CL0001050)
    Fold Change: 3.54
    Marker Score: 2,977
  • Cell Name: activated CD4-positive, alpha-beta T cell, human (CL0001043)
    Fold Change: 3.54
    Marker Score: 1,608
  • Cell Name: CD4-positive helper T cell (CL0000492)
    Fold Change: 3.53
    Marker Score: 3,843
  • Cell Name: kidney distal convoluted tubule epithelial cell (CL1000849)
    Fold Change: 3.53
    Marker Score: 3,739
  • Cell Name: non-classical monocyte (CL0000875)
    Fold Change: 3.51
    Marker Score: 8,473
  • Cell Name: mesodermal cell (CL0000222)
    Fold Change: 3.51
    Marker Score: 46,264
  • Cell Name: fibroblast of lung (CL0002553)
    Fold Change: 3.51
    Marker Score: 9,182
  • Cell Name: naive thymus-derived CD4-positive, alpha-beta T cell (CL0000895)
    Fold Change: 3.5
    Marker Score: 6,008
  • Cell Name: centrocyte (CL0009111)
    Fold Change: 3.49
    Marker Score: 830
  • Cell Name: mesothelial cell of epicardium (CL0011019)
    Fold Change: 3.49
    Marker Score: 1,119
  • Cell Name: ependymal cell (CL0000065)
    Fold Change: 3.48
    Marker Score: 1,214
  • Cell Name: kidney collecting duct intercalated cell (CL1001432)
    Fold Change: 3.48
    Marker Score: 5,769
  • Cell Name: myeloid leukocyte (CL0000766)
    Fold Change: 3.47
    Marker Score: 4,195
  • Cell Name: progenitor cell of endocrine pancreas (CL0002351)
    Fold Change: 3.47
    Marker Score: 756
  • Cell Name: basal cell (CL0000646)
    Fold Change: 3.47
    Marker Score: 4,483
  • Cell Name: blood cell (CL0000081)
    Fold Change: 3.47
    Marker Score: 40,284
  • Cell Name: alternatively activated macrophage (CL0000890)
    Fold Change: 3.46
    Marker Score: 1,443
  • Cell Name: reticular cell (CL0000432)
    Fold Change: 3.45
    Marker Score: 1,260
  • Cell Name: endothelial cell of uterus (CL0009095)
    Fold Change: 3.44
    Marker Score: 6,874
  • Cell Name: CD16-negative, CD56-bright natural killer cell, human (CL0000938)
    Fold Change: 3.43
    Marker Score: 2,811
  • Cell Name: kidney loop of Henle epithelial cell (CL1000909)
    Fold Change: 3.43
    Marker Score: 2,150
  • Cell Name: natural T-regulatory cell (CL0000903)
    Fold Change: 3.43
    Marker Score: 1,762
  • Cell Name: naive thymus-derived CD8-positive, alpha-beta T cell (CL0000900)
    Fold Change: 3.41
    Marker Score: 6,088
  • Cell Name: peritubular capillary endothelial cell (CL1001033)
    Fold Change: 3.41
    Marker Score: 792
  • Cell Name: enteroendocrine cell of small intestine (CL0009006)
    Fold Change: 3.4
    Marker Score: 971
  • Cell Name: club cell (CL0000158)
    Fold Change: 3.39
    Marker Score: 3,960
  • Cell Name: effector memory CD8-positive, alpha-beta T cell (CL0000913)
    Fold Change: 3.38
    Marker Score: 2,081
  • Cell Name: stromal cell (CL0000499)
    Fold Change: 3.38
    Marker Score: 3,959
  • Cell Name: IgG-negative class switched memory B cell (CL0002117)
    Fold Change: 3.37
    Marker Score: 3,323
  • Cell Name: fibroblast of connective tissue of glandular part of prostate (CL1000305)
    Fold Change: 3.37
    Marker Score: 1,404
  • Cell Name: kidney connecting tubule epithelial cell (CL1000768)
    Fold Change: 3.36
    Marker Score: 4,757
  • Cell Name: meningeal macrophage (CL0000879)
    Fold Change: 3.36
    Marker Score: 946
  • Cell Name: pericyte (CL0000669)
    Fold Change: 3.35
    Marker Score: 1,954
  • Cell Name: common myeloid progenitor (CL0000049)
    Fold Change: 3.34
    Marker Score: 886
  • Cell Name: columnar/cuboidal epithelial cell (CL0000075)
    Fold Change: 3.34
    Marker Score: 885
  • Cell Name: skeletal muscle satellite stem cell (CL0008011)
    Fold Change: 3.34
    Marker Score: 3,566
  • Cell Name: mature NK T cell (CL0000814)
    Fold Change: 3.34
    Marker Score: 1,546
  • Cell Name: adipocyte of epicardial fat of left ventricle (CL1000311)
    Fold Change: 3.34
    Marker Score: 878
  • Cell Name: stratified epithelial cell (CL0000079)
    Fold Change: 3.33
    Marker Score: 26,037
  • Cell Name: CD38-negative naive B cell (CL0002102)
    Fold Change: 3.33
    Marker Score: 6,985
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: 3.33
    Marker Score: 115,405
  • Cell Name: GABAergic amacrine cell (CL4030027)
    Fold Change: 3.32
    Marker Score: 6,741

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Marker Score to the Marker Score Threshold, indicating how much the gene expression has changed compared to a baseline.
Marker Score: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Marker Score to the Marker Score Threshold, indicating how much the gene expression has changed compared to a baseline.
Marker Score: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Marker Score to the Marker Score Threshold, indicating how much the gene expression has changed compared to a baseline.
Marker Score: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Other Information

**Key Characteristics:** ITM2B is a type II transmembrane protein with a large extracellular domain, which interacts with APP and other proteins to regulate their processing and aggregation. The protein has been shown to bind to amyloid-beta peptides, which are key components of amyloid plaques in Alzheimer's disease. ITM2B's role in amyloidosis is thought to be mediated through its ability to regulate APP processing and prevent the formation of toxic amyloid fibers. **Pathways and Functions:** ITM2B is involved in several cellular pathways, including: 1. **Amyloid-beta binding and amyloid fiber formation:** ITM2B binds to amyloid-beta peptides, preventing their aggregation and formation of toxic amyloid fibers. 2. **Negative regulation of APP biosynthetic process:** ITM2B regulates APP processing, preventing the excessive production of amyloid-beta peptides. 3. **Protein binding:** ITM2B interacts with other proteins, including APP, amyloid-beta, and tau, to regulate their function and aggregation. 4. **Endosomal trafficking:** ITM2B is involved in the regulation of endosomal trafficking, which plays a critical role in the sorting and degradation of proteins. **Clinical Significance:** Dysregulation of ITM2B has been implicated in various amyloid-related disorders, including Alzheimer's disease, frontotemporal dementia, and amyloidosis. Overexpression or mutations in ITM2B have been linked to the development of amyloid plaques and neurodegeneration. Furthermore, ITM2B has been shown to play a role in maintaining immune homeostasis, and its dysregulation may contribute to the development of autoimmune disorders. In summary, ITM2B is a critical regulator of amyloid precursor protein biosynthesis and amyloid fiber formation. Its dysregulation has significant implications for the development of amyloid-related disorders, and further research is needed to fully understand its role in immune regulation and disease pathology. **Implications for Future Research:** 1. **Investigating the mechanisms of ITM2B regulation:** Further studies are needed to elucidate the molecular mechanisms underlying ITM2B's regulation of APP and amyloid-beta. 2. **Exploring the role of ITM2B in immune regulation:** The importance of ITM2B in maintaining immune homeostasis needs to be further investigated. 3. **Developing therapeutic strategies:** Targeting ITM2B or its regulatory pathways may provide a new therapeutic approach for the treatment of amyloid-related disorders. By continuing to explore the role of ITM2B in immune regulation and amyloid pathology, researchers can gain a deeper understanding of the molecular mechanisms underlying these complex disorders and develop innovative therapeutic strategies to prevent or treat them.

Genular Protein ID: 3664139540

Symbol: ITM2B_HUMAN

Name: Integral membrane protein 2B

UniProtKB Accession Codes:

Q9Y287 Q5W0A3 Q96B24 Q9NYH1

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 Bgee 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 1 ChiTaRS 1 DMDM 1 DNASU 1 DisGeNET 1 EMBL 10 EMDB 1 EPD 1 Ensembl 2 ExpressionAtlas 1 GO 15 GeneCards 1 GeneTree 1 GeneWiki 1 Genevisible 1 GenomeRNAi 1 GlyConnect 1 GlyCosmos 1 GlyGen 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 2 MANE-Select 1 MIM 7 MINT 1 MalaCards 1 MassIVE 1 MaxQB 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 Orphanet 3 OrthoDB 1 PANTHER 2 PRO 1 PROSITE 1 PROSITE-ProRule 1 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 1 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 1 Pumba 1 RNAct 1 Reactome 1 RefSeq 1 SMART 1 SMR 1 STRING 1 SignaLink 1 SwissPalm 1 TCDB 1 TopDownProteomics 1 TreeFam 1 UCSC 1 UniProtKB 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

Citations:

PubMed ID: 10391242

Title: A stop-codon mutation in the BRI gene associated with familial British dementia.

PubMed ID: 10391242

DOI: 10.1038/21637

PubMed ID: 10781099

Title: 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

DOI: 10.1073/pnas.080076097

PubMed ID: 10931946

Title: Gene expression profiling in the human hypothalamus-pituitary-adrenal axis and full-length cDNA cloning.

PubMed ID: 10931946

DOI: 10.1073/pnas.160270997

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

PubMed ID: 24026677

Title: The familial dementia gene revisited: a missense mutation revealed by whole-exome sequencing identifies ITM2B as a candidate gene underlying a novel autosomal dominant retinal dystrophy in a large family.

PubMed ID: 24026677

DOI: 10.1093/hmg/ddt439

PubMed ID: 10526337

Title: Furin mediates enhanced production of fibrillogenic ABri peptides in familial British dementia.

PubMed ID: 10526337

DOI: 10.1038/14783

PubMed ID: 14656991

Title: Axonal transport of British and Danish amyloid peptides via secretory vesicles.

PubMed ID: 14656991

DOI: 10.1096/fj.03-0730fje

PubMed ID: 15983050

Title: The familial dementia BRI2 gene binds the Alzheimer gene amyloid-beta precursor protein and inhibits amyloid-beta production.

PubMed ID: 15983050

DOI: 10.1074/jbc.c500217200

PubMed ID: 16027166

Title: BRI2 interacts with amyloid precursor protein (APP) and regulates amyloid beta (Abeta) production.

PubMed ID: 16027166

DOI: 10.1074/jbc.c500231200

PubMed ID: 16091362

Title: Familial Danish dementia: co-existence of Danish and Alzheimer amyloid subunits (ADan AND A{beta}) in the absence of compact plaques.

PubMed ID: 16091362

DOI: 10.1074/jbc.m504038200

PubMed ID: 17965014

Title: Regulated intramembrane proteolysis of Bri2 (Itm2b) by ADAM10 and SPPL2a/SPPL2b.

PubMed ID: 17965014

DOI: 10.1074/jbc.m706661200

PubMed ID: 18524908

Title: BRI2 (ITM2b) inhibits Abeta deposition in vivo.

PubMed ID: 18524908

DOI: 10.1523/jneurosci.0891-08.2008

PubMed ID: 18753367

Title: BRI2 inhibits amyloid beta-peptide precursor protein processing by interfering with the docking of secretases to the substrate.

PubMed ID: 18753367

DOI: 10.1523/jneurosci.2094-08.2008

PubMed ID: 19114711

Title: Substrate requirements for SPPL2b-dependent regulated intramembrane proteolysis.

PubMed ID: 19114711

DOI: 10.1074/jbc.m807485200

PubMed ID: 20036644

Title: The extracellular domain of Bri2 (ITM2B) binds the ABri peptide (1-23) and amyloid beta-peptide (Abeta1-40): Implications for Bri2 effects on processing of amyloid precursor protein and Abeta aggregation.

PubMed ID: 20036644

DOI: 10.1016/j.bbrc.2009.12.122

PubMed ID: 18440095

Title: BRI2 homodimerizes with the involvement of intermolecular disulfide bonds.

PubMed ID: 18440095

DOI: 10.1016/j.neurobiolaging.2008.03.004

PubMed ID: 21752865

Title: Glycosylation of BRI2 on asparagine 170 is involved in its trafficking to the cell surface but not in its processing by furin or ADAM10.

PubMed ID: 21752865

DOI: 10.1093/glycob/cwr097

PubMed ID: 19748705

Title: Maturation of BRI2 generates a specific inhibitor that reduces APP processing at the plasma membrane and in endocytic vesicles.

PubMed ID: 19748705

DOI: 10.1016/j.neurobiolaging.2009.08.005

PubMed ID: 22170863

Title: beta- but not gamma-secretase proteolysis of APP causes synaptic and memory deficits in a mouse model of dementia.

PubMed ID: 22170863

DOI: 10.1002/emmm.201100195

PubMed ID: 22194595

Title: 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

DOI: 10.1074/jbc.m111.328104

Sequence Information:

  • Length: 266
  • Mass: 30338
  • Checksum: 3A7D8CA259F1F627
  • Sequence:
    • MVKVTFNSAL AQKEAKKDEP KSGEEALIIP PDAVAVDCKD PDDVVPVGQR RAWCWCMCFG 
LAFMLAGVIL GGAYLYKYFA LQPDDVYYCG IKYIKDDVIL NEPSADAPAA LYQTIEENIK 
IFEEEEVEFI SVPVPEFADS DPANIVHDFN KKLTAYLDLN LDKCYVIPLN TSIVMPPRNL 
LELLINIKAG TYLPQSYLIH EHMVITDRIE NIDHLGFFIY RLCHDKETYK LQRRETIKGI 
QKREASNCFA IRHFENKFAV ETLICS

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.