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UniProtKB - Q9Y287 (ITM2B_HUMAN)

Entry version 170 (16 Oct 2019)
Sequence version 1 (01 Nov 1999)
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Protein

Integral membrane protein 2B

Gene

ITM2B

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the ‘protein existence’ evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

Plays a regulatory role in the processing of the amyloid-beta A4 precursor protein (APP) and acts as an inhibitor of the amyloid-beta 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 amyloid-beta A4 precursor protein (APP) processing leading to a strong reduction in the secretion of secretase-processed amyloid-beta protein 40 and amyloid-beta protein 42.
Bri23 peptide prevents aggregation of APP amyloid-beta protein 42 into toxic oligomers.

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

Complete GO annotation on QuickGO ...

GO - Biological processi

Complete GO annotation on QuickGO ...

Enzyme and pathway databases

Reactome - a knowledgebase of biological pathways and processes

More...Reactomei		R-HSA-977225 Amyloid fiber formation

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Integral membrane protein 2B
Alternative name(s):
Immature BRI2
Short name:
imBRI2
Protein E25B
Transmembrane protein BRI
Short name:
Bri
Cleaved into the following 4 chains:
BRI2, membrane form
Alternative name(s):
Mature BRI2
Short name:
mBRI2
BRI2 intracellular domain
Short name:
BRI2 ICD
BRI2C, soluble form
Bri23 peptide
Short name:
Bri2-23
Alternative name(s):
ABri23
C-terminal peptide
P23 peptide
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: ‘Name’, ‘Synonyms’, ‘Ordered locus names’ and ‘ORF names’.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:ITM2B
Synonyms:BRI, BRI2
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the ‘taxonomic identifier’ or ‘taxid’.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes_manual">proteome</a> can consist of several components. <br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 13

Organism-specific databases

Human Gene Nomenclature Database

More...HGNCi		HGNC:6174 ITM2B

Online Mendelian Inheritance in Man (OMIM)

More...MIMi		603904 gene

neXtProt; the human protein knowledge platform

More...neXtProti		NX_Q9Y287

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte & Seán O’Donoghue; Source: COMPARTMENTS

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular_location_section">'Subcellular location'</a> section describes the subcellular compartment where each non-membrane region of a membrane-spanning protein is found.<p><a href='/help/topo_dom' target='_top'>More...</a></p>Topological domaini1 – 54CytoplasmicSequence analysisAdd BLAST54
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular_location_section">'Subcellular location'</a> section describes the extent of a membrane-spanning region of the protein. It denotes the presence of both alpha-helical transmembrane regions and the membrane spanning regions of beta-barrel transmembrane proteins.<p><a href='/help/transmem' target='_top'>More...</a></p>Transmembranei55 – 75Helical; Signal-anchor for type II membrane proteinSequence analysisAdd BLAST21
Topological domaini76 – 266LumenalSequence analysisAdd BLAST191

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywords - Cellular componenti

Amyloid, Cell membrane, Endosome, Golgi apparatus, Membrane, Secreted

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the ‘Pathology and Biotech’ section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseasei

Cerebral amyloid angiopathy, ITM2B-related 1 (CAA-ITM2B1)3 Publications
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).2 Publications
Disease descriptionA 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.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_010239266S → SRTVKKNIIEEN in CAA-ITM2B1; amyloid ABri. 3 Publications1
Cerebral amyloid angiopathy, ITM2B-related 2 (CAA-ITM2B2)3 Publications
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.1 Publication
Disease descriptionA 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.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_010240266S → FNLFLNSQEKHY in CAA-ITM2B2; amyloid ADan; colocalizes with APP amyloid-beta protein 42 in parenchymal and vascular lesions; interacts with APP amyloid-beta protein 42; oligomerizes and is subjected to disulfide bond formation; undergoes cyclic pyroglutamate formation on the N-terminus Gln residues and is further proteolytically cleaved in the cerebral cortex. 3 Publications1
Retinal dystrophy with inner retinal dysfunction and ganglion cell abnormalities (RDGCA)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn 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.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_072434261E → A in RDGCA. 1 PublicationCorresponds to variant dbSNP:rs606231283EnsemblClinVar.1

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/manual/pathology_and_biotech_section">'Pathology and Biotech'</a> section describes the effect of the experimental mutation of one or more amino acid(s) on the biological properties of the protein.<p><a href='/help/mutagen' target='_top'>More...</a></p>Mutagenesisi60G → V: Reduces strongly intramembrane cleavage by SPPL2B. 1 Publication1
Mutagenesisi170N → A: Accumulates in intracellular compartments. Does not inhibit furin, ADAM10 and SPPL2A extracellular proteolytic processing activity. 1 Publication1
Mutagenesisi243 – 244RE → AA: Inhibits cleavage by furin. Does not prevent ADAM10 shedding. 2 Publications2

Keywords - Diseasei

Amyloidosis, Deafness, Disease mutation, Neurodegeneration

Organism-specific databases

DisGeNET

More...DisGeNETi		9445

MalaCards human disease database

More...MalaCardsi		ITM2B
MIMi117300 phenotype
176500 phenotype
616079 phenotype

Open Targets

More...OpenTargetsi		ENSG00000136156

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...Orphaneti		97345 ABri amyloidosis
97346 ADan amyloidosis
397758 Retinal dystrophy with inner retinal dysfunction and ganglion cell anomalies

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...PharmGKBi		PA29971

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...Pharosi		Q9Y287

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...BioMutai		ITM2B

Domain mapping of disease mutations (DMDM)

More...DMDMi		12643343

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00000458401 – 266Integral membrane protein 2BAdd BLAST266
ChainiPRO_00004174641 – 243BRI2, membrane formAdd BLAST243
ChainiPRO_00004174651 – ?BRI2 intracellular domain
ChainiPRO_0000417466? – 243BRI2C, soluble form
<p>This subsection of the ‘PTM / Processing’ section describes the position and length of an active peptide in the mature protein.<p><a href='/help/peptide' target='_top'>More...</a></p>PeptideiPRO_0000016545244 – 266Bri23 peptideAdd BLAST23

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the PTM / Processing":/help/ptm_processing_section section describes the positions of cysteine residues participating in disulfide bonds.<p><a href='/help/disulfid' target='_top'>More...</a></p>Disulfide bondi89Interchain
Disulfide bondi164 ↔ 223By similarity
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM / Processing</a> section specifies the position and type of each covalently attached glycan group (mono-, di-, or polysaccharide).<p><a href='/help/carbohyd' target='_top'>More...</a></p>Glycosylationi170N-linked (GlcNAc...) asparagine1 Publication1
Disulfide bondi248 ↔ 265Interchain (between ADan peptide variants)

<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM/processing</a> section describes post-translational modifications (PTMs). This subsection <strong>complements</strong> the information provided at the sequence level or describes modifications for which <strong>position-specific data is not yet available</strong>.<p><a href='/help/post-translational_modification' target='_top'>More...</a></p>Post-translational modificationi

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.
Glycosylation at Asn-170 is important for cell surface localization, but doesn't affect furin- and ADAM10-induced proteolytic processing.1 Publication

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection describes interesting single amino acid sites on the sequence that are not defined in any other subsection. This subsection can be displayed in different sections (‘Function’, ‘PTM / Processing’, ‘Pathology and Biotech’) according to its content.<p><a href='/help/site' target='_top'>More...</a></p>Sitei243 – 244Cleavage; by furin2

Keywords - PTMi

Cleavage on pair of basic residues, Disulfide bond, Glycoprotein

Proteomic databases

Encyclopedia of Proteome Dynamics

More...EPDi		Q9Y287

jPOST - Japan Proteome Standard Repository/Database

More...jPOSTi		Q9Y287

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...MassIVEi		Q9Y287

PaxDb, a database of protein abundance averages across all three domains of life

More...PaxDbi		Q9Y287

PeptideAtlas

More...PeptideAtlasi		Q9Y287

PRoteomics IDEntifications database

More...PRIDEi		Q9Y287

ProteomicsDB: a multi-organism proteome resource

More...ProteomicsDBi		85699 [Q9Y287-1]

Consortium for Top Down Proteomics

More...TopDownProteomicsi		Q9Y287-1 [Q9Y287-1]

PTM databases

GlyConnect protein glycosylation platform

More...GlyConnecti		1403

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		Q9Y287

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

More...PhosphoSitePlusi		Q9Y287

SwissPalm database of S-palmitoylation events

More...SwissPalmi		Q9Y287

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

<p>This subsection of the ‘Expression’ section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified ‘at protein level’. <br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityi

Ubiquitous. Expressed in brain.

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...Bgeei		ENSG00000136156 Expressed in 235 organ(s), highest expression level in metanephric glomerulus

ExpressionAtlas, Differential and Baseline Expression

More...ExpressionAtlasi		Q9Y287 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		Q9Y287 HS

Organism-specific databases

Human Protein Atlas

More...HPAi		HPA029292
HPA071992

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction_section">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function_section">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

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 amyloid-beta protein 40.

7 Publications

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction_section%27">Interaction</a> section provides information about binary protein-protein interactions. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the <a href="http://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated on a monthly basis. Each binary interaction is displayed on a separate line.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

More...BioGridi		114835, 37 interactors

Protein interaction database and analysis system

More...IntActi		Q9Y287, 38 interactors

Molecular INTeraction database

More...MINTi		Q9Y287

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000367828

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/family_and_domains_section">Family and Domains</a> section describes the position and type of a domain, which is defined as a specific combination of secondary structures organized into a characteristic three-dimensional structure or fold.<p><a href='/help/domain' target='_top'>More...</a></p>Domaini137 – 231BRICHOSPROSITE-ProRule annotationAdd BLAST95

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and Domains’ section describes a region of interest that cannot be described in other subsections.<p><a href='/help/region' target='_top'>More...</a></p>Regioni102 – 134Necessary for interaction with APP and inhibitor effects on APP processingAdd BLAST33

<p>This subsection of the ‘Family and domains’ section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Belongs to the ITM2 family.Curated

Keywords - Domaini

Signal-anchor, Transmembrane, Transmembrane helix

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...eggNOGi		KOG4681 Eukaryota
ENOG410XRNN LUCA

Ensembl GeneTree

More...GeneTreei		ENSGT00950000183115

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...HOGENOMi		HOG000231259

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		Q9Y287

KEGG Orthology (KO)

More...KOi		K18264

Identification of Orthologs from Complete Genome Data

More...OMAi		KYFAFQQ

Database of Orthologous Groups

More...OrthoDBi		1322680at2759

Database for complete collections of gene phylogenies

More...PhylomeDBi		Q9Y287

TreeFam database of animal gene trees

More...TreeFami		TF317770

Family and domain databases

Integrated resource of protein families, domains and functional sites

More...InterProi		View protein in InterPro
IPR007084 BRICHOS_dom
IPR040145 ITM2

The PANTHER Classification System

More...PANTHERi		PTHR10962 PTHR10962, 1 hit

Pfam protein domain database

More...Pfami		View protein in Pfam
PF04089 BRICHOS, 1 hit

Simple Modular Architecture Research Tool; a protein domain database

More...SMARTi		View protein in SMART
SM01039 BRICHOS, 1 hit

PROSITE; a protein domain and family database

More...PROSITEi		View protein in PROSITE
PS50869 BRICHOS, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (2+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is in its mature form or if it represents the precursor.<p><a href='/help/sequence_processing' target='_top'>More...</a></p>Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 2 <p>This subsection of the ‘Sequence’ section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 2 described isoforms and 6 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q9Y287-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the <div> <p><b>What is the canonical sequence?</b><p><a href='/help/canonical_and_isoforms' target='_top'>More...</a></p>canonicali sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        10         20         30         40         50
MVKVTFNSAL AQKEAKKDEP KSGEEALIIP PDAVAVDCKD PDDVVPVGQR 
        60         70         80         90        100
RAWCWCMCFG LAFMLAGVIL GGAYLYKYFA LQPDDVYYCG IKYIKDDVIL 
       110        120        130        140        150
NEPSADAPAA LYQTIEENIK IFEEEEVEFI SVPVPEFADS DPANIVHDFN 
       160        170        180        190        200
KKLTAYLDLN LDKCYVIPLN TSIVMPPRNL LELLINIKAG TYLPQSYLIH 
       210        220        230        240        250
EHMVITDRIE NIDHLGFFIY RLCHDKETYK LQRRETIKGI QKREASNCFA 
       260 
IRHFENKFAV ETLICS
Length:266
Mass (Da):30,338
Last modified:November 1, 1999 - v1
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:i3A7D8CA259F1F627
GO
Isoform 2 (identifier: Q9Y287-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     83-188: Missing.

Note: No experimental confirmation available.
Show »
Length:160
Mass (Da):18,283
Checksum:i1945A235CC75B5C3
GO

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There are 6 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
A0A3B3ITP9A0A3B3ITP9_HUMAN
Integral membrane protein 2B
ITM2B
143Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A3B3IU60A0A3B3IU60_HUMAN
Integral membrane protein 2B
ITM2B
45Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
U3KQL7U3KQL7_HUMAN
Integral membrane protein 2B
ITM2B
28Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A3B3IUC0A0A3B3IUC0_HUMAN
Integral membrane protein 2B
ITM2B
210Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
U3KQ52U3KQ52_HUMAN
Integral membrane protein 2B
ITM2B
53Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A3B3ISG3A0A3B3ISG3_HUMAN
Integral membrane protein 2B
ITM2B
67Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_07104715A → T2 PublicationsCorresponds to variant dbSNP:rs11556905Ensembl.1
Natural variantiVAR_072434261E → A in RDGCA. 1 PublicationCorresponds to variant dbSNP:rs606231283EnsemblClinVar.1
Natural variantiVAR_010240266S → FNLFLNSQEKHY in CAA-ITM2B2; amyloid ADan; colocalizes with APP amyloid-beta protein 42 in parenchymal and vascular lesions; interacts with APP amyloid-beta protein 42; oligomerizes and is subjected to disulfide bond formation; undergoes cyclic pyroglutamate formation on the N-terminus Gln residues and is further proteolytically cleaved in the cerebral cortex. 3 Publications1
Natural variantiVAR_010239266S → SRTVKKNIIEEN in CAA-ITM2B1; amyloid ABri. 3 Publications1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_05532683 – 188Missing in isoform 2. CuratedAdd BLAST106

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...EMBLi

GenBank nucleotide sequence database

More...GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...DDBJi
Links Updated
AF152462 mRNA Translation: AAD45280.1
AF246221 mRNA Translation: AAF66130.1
AF136973 mRNA Translation: AAG49434.1
AF092128 mRNA Translation: AAD40370.1
BT006863 mRNA Translation: AAP35509.1
AY341247 Genomic DNA Translation: AAP88930.1
CH471075 Genomic DNA Translation: EAX08789.1
CH471075 Genomic DNA Translation: EAX08790.1
BC000554 mRNA Translation: AAH00554.1
BC016148 mRNA Translation: AAH16148.1

The Consensus CDS (CCDS) project

More...CCDSi		CCDS9409.1 [Q9Y287-1]

NCBI Reference Sequences

More...RefSeqi		NP_068839.1, NM_021999.4 [Q9Y287-1]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...Ensembli		ENST00000378549; ENSP00000367811; ENSG00000136156 [Q9Y287-2]
ENST00000647800; ENSP00000497221; ENSG00000136156 [Q9Y287-1]

Database of genes from NCBI RefSeq genomes

More...GeneIDi		9445

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:9445

UCSC genome browser

More...UCSCi		uc001vbz.4 human [Q9Y287-1]

Keywords - Coding sequence diversityi

Alternative splicing

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

<p>This subsection of the <a href="http://www.uniprot.org/manual/cross_references_section">Cross-references</a> section provides links to various web resources that are relevant for a specific protein.<p><a href='/help/web_resource' target='_top'>More...</a></p>Web resourcesi

NIEHS-SNPs

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF152462 mRNA Translation: AAD45280.1
AF246221 mRNA Translation: AAF66130.1
AF136973 mRNA Translation: AAG49434.1
AF092128 mRNA Translation: AAD40370.1
BT006863 mRNA Translation: AAP35509.1
AY341247 Genomic DNA Translation: AAP88930.1
CH471075 Genomic DNA Translation: EAX08789.1
CH471075 Genomic DNA Translation: EAX08790.1
BC000554 mRNA Translation: AAH00554.1
BC016148 mRNA Translation: AAH16148.1
CCDSiCCDS9409.1 [Q9Y287-1]
RefSeqiNP_068839.1, NM_021999.4 [Q9Y287-1]

3D structure databases

Database of comparative protein structure models

More...ModBasei		Search...

SWISS-MODEL Interactive Workspace

More...SWISS-MODEL-Workspacei		Submit a new modelling project...

Protein-protein interaction databases

BioGridi114835, 37 interactors
IntActiQ9Y287, 38 interactors
MINTiQ9Y287
STRINGi9606.ENSP00000367828

PTM databases

GlyConnecti1403
iPTMnetiQ9Y287
PhosphoSitePlusiQ9Y287
SwissPalmiQ9Y287

Polymorphism and mutation databases

BioMutaiITM2B
DMDMi12643343

Proteomic databases

EPDiQ9Y287
jPOSTiQ9Y287
MassIVEiQ9Y287
PaxDbiQ9Y287
PeptideAtlasiQ9Y287
PRIDEiQ9Y287
ProteomicsDBi85699 [Q9Y287-1]
TopDownProteomicsiQ9Y287-1 [Q9Y287-1]

Protocols and materials databases

The DNASU plasmid repository

More...DNASUi		9445

Genome annotation databases

EnsembliENST00000378549; ENSP00000367811; ENSG00000136156 [Q9Y287-2]
ENST00000647800; ENSP00000497221; ENSG00000136156 [Q9Y287-1]
GeneIDi9445
KEGGihsa:9445
UCSCiuc001vbz.4 human [Q9Y287-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...CTDi		9445
DisGeNETi9445

GeneCards: human genes, protein and diseases

More...GeneCardsi		ITM2B
HGNCiHGNC:6174 ITM2B
HPAiHPA029292
HPA071992
MalaCardsiITM2B
MIMi117300 phenotype
176500 phenotype
603904 gene
616079 phenotype
neXtProtiNX_Q9Y287
OpenTargetsiENSG00000136156
Orphaneti97345 ABri amyloidosis
97346 ADan amyloidosis
397758 Retinal dystrophy with inner retinal dysfunction and ganglion cell anomalies
PharmGKBiPA29971

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiKOG4681 Eukaryota
ENOG410XRNN LUCA
GeneTreeiENSGT00950000183115
HOGENOMiHOG000231259
InParanoidiQ9Y287
KOiK18264
OMAiKYFAFQQ
OrthoDBi1322680at2759
PhylomeDBiQ9Y287
TreeFamiTF317770

Enzyme and pathway databases

ReactomeiR-HSA-977225 Amyloid fiber formation

Miscellaneous databases

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

More...ChiTaRSi		ITM2B human

The Gene Wiki collection of pages on human genes and proteins

More...GeneWikii		ITM2B

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

More...GenomeRNAii		9445
PharosiQ9Y287

Protein Ontology

More...PROi		PR:Q9Y287

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

Gene expression databases

BgeeiENSG00000136156 Expressed in 235 organ(s), highest expression level in metanephric glomerulus
ExpressionAtlasiQ9Y287 baseline and differential
GenevisibleiQ9Y287 HS

Family and domain databases

InterProiView protein in InterPro
IPR007084 BRICHOS_dom
IPR040145 ITM2
PANTHERiPTHR10962 PTHR10962, 1 hit
PfamiView protein in Pfam
PF04089 BRICHOS, 1 hit
SMARTiView protein in SMART
SM01039 BRICHOS, 1 hit
PROSITEiView protein in PROSITE
PS50869 BRICHOS, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

More...ProtoNeti		Search...

MobiDB: a database of protein disorder and mobility annotations

More...MobiDBi		Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the ‘Entry information’ section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiITM2B_HUMAN
<p>This subsection of the ‘Entry information’ section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called ‘Primary (citable) accession number’.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: Q9Y287
Secondary accession number(s): Q5W0A3, Q96B24, Q9NYH1
<p>This subsection of the ‘Entry information’ section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification (‘Last modified’). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: January 24, 2001
Last sequence update: November 1, 1999
Last modified: October 16, 2019
This is version 170 of the entry and version 1 of the sequence. See complete history.
<p>This subsection of the ‘Entry information’ section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

<p>This section contains any relevant information that doesn’t fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. SIMILARITY comments
    Index of protein domains and families
  2. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  3. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  4. Human chromosome 13
    Human chromosome 13: entries, gene names and cross-references to MIM
  5. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
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