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UniProtKB - Q9NQX7 (ITM2C_HUMAN)

Entry version 168 (29 Sep 2021)
Sequence version 1 (01 Oct 2000)
Previous versions | rss
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Protein

Integral membrane protein 2C

Gene

ITM2C

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

Negative regulator of amyloid-beta peptide production. May inhibit the processing of APP by blocking its access to alpha- and beta-secretase. Binding to the beta-secretase-cleaved APP C-terminal fragment is negligible, suggesting that ITM2C is a poor gamma-secretase cleavage inhibitor. May play a role in TNF-induced cell death and neuronal differentiation (By similarity).

By similarity2 Publications

<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

Pathway Commons web resource for biological pathway data

More...PathwayCommonsi		Q9NQX7

<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 2C
Alternative name(s):
Cerebral protein 14
Transmembrane protein BRI3
Cleaved into the following chain:
CT-BRI3
<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:ITM2C
Synonyms:BRI3
ORF Names:hucep-14, NPD018, PSEC0047
<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 2

Organism-specific databases

Human Gene Nomenclature Database

More...HGNCi		HGNC:6175, ITM2C

Online Mendelian Inheritance in Man (OMIM)

More...MIMi		609554, gene

neXtProt; the human protein knowledge platform

More...neXtProti		NX_Q9NQX7

Eukaryotic Pathogen, Vector and Host Database Resources

More...VEuPathDBi		HostDB:ENSG00000135916

<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

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 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

<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

Cell membrane, Lysosome, Membrane

<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

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>Mutagenesisi241 – 242KR → AA: Completely abrogates proteolytic processing. 1 Publication2

Organism-specific databases

DisGeNET

More...DisGeNETi		81618

Open Targets

More...OpenTargetsi		ENSG00000135916

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...PharmGKBi		PA29972

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...Pharosi		Q9NQX7, Tbio

Genetic variation databases

BioMuta curated single-nucleotide variation and disease association database

More...BioMutai		ITM2C

Domain mapping of disease mutations (DMDM)

More...DMDMi		12585259

<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 or proteolytic cleavage.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00001548261 – 267Integral membrane protein 2CAdd BLAST267
<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_0000232645243 – 267CT-BRI3Add BLAST25

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'PTM / Processing' section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei37PhosphothreonineBy similarity1
<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 bondi163 ↔ 222By 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>Glycosylationi169N-linked (GlcNAc...) asparagine1 Publication1

<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

Type I membrane-bound, as well as soluble, furin has a pre-eminent role in ITM2C proteolytic processing. PCSK7 and PCSK5 may also be involved although to a lesser extent. The soluble form of PCSK7 is incapable of processing ITM2C. Fails to undergo shedding by ADAM10 and intramembrane cleavage by SPPL2B.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>Sitei242 – 243Cleavage; by furin2

Keywords - PTMi

Cleavage on pair of basic residues, Disulfide bond, Glycoprotein, Phosphoprotein

Proteomic databases

Encyclopedia of Proteome Dynamics

More...EPDi		Q9NQX7

jPOST - Japan Proteome Standard Repository/Database

More...jPOSTi		Q9NQX7

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...MassIVEi		Q9NQX7

MaxQB - The MaxQuant DataBase

More...MaxQBi		Q9NQX7

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

More...PaxDbi		Q9NQX7

PeptideAtlas

More...PeptideAtlasi		Q9NQX7

PRoteomics IDEntifications database

More...PRIDEi		Q9NQX7

ProteomicsDB: a multi-organism proteome resource

More...ProteomicsDBi		82226 [Q9NQX7-1]
82227 [Q9NQX7-2]
82228 [Q9NQX7-3]

PTM databases

GlyGen: Computational and Informatics Resources for Glycoscience

More...GlyGeni		Q9NQX7, 1 site

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		Q9NQX7

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

More...PhosphoSitePlusi		Q9NQX7

SwissPalm database of S-palmitoylation events

More...SwissPalmi		Q9NQX7

<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

High levels in the brain, specifically in the cerebral cortex, medulla, amygdala, hippocampus, thalamus, caudate nucleus, cerebellum, olfactory lobe and spinal cord. Very low levels in other organs.2 Publications

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...Bgeei		ENSG00000135916, Expressed in nucleus accumbens and 238 other tissues

ExpressionAtlas, Differential and Baseline Expression

More...ExpressionAtlasi		Q9NQX7, baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		Q9NQX7, HS

Organism-specific databases

Human Protein Atlas

More...HPAi		ENSG00000135916, Group enriched (blood, brain, intestine)

<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

Interacts with BACE1.

Interacts with APP.

Interacts with STMN2.

3 Publications

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction_section">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="https://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated at every <a href="http://www.uniprot.org/help/synchronization">UniProt release</a>.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

Hide details

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGRID)

More...BioGRIDi		123553, 29 interactors

Protein interaction database and analysis system

More...IntActi		Q9NQX7, 27 interactors

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000322730

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...RNActi		Q9NQX7, protein

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

3D structure databases

SWISS-MODEL Repository - a database of annotated 3D protein structure models

More...SMRi		Q9NQX7

Database of comparative protein structure models

More...ModBasei		Search...

<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>Domaini136 – 230BRICHOSPROSITE-ProRule annotationAdd BLAST95

<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

Ensembl GeneTree

More...GeneTreei		ENSGT00950000183115

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		Q9NQX7

Identification of Orthologs from Complete Genome Data

More...OMAi		ARTRMEL

Database for complete collections of gene phylogenies

More...PhylomeDBi		Q9NQX7

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 (3+)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 3 <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 3 described isoforms and 5 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q9NQX7-1) [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
MVKISFQPAV AGIKGDKADK ASASAPAPAS ATEILLTPAR EEQPPQHRSK 
        60         70         80         90        100
RGGSVGGVCY LSMGMVVLLM GLVFASVYIY RYFFLAQLAR DNFFRCGVLY 
       110        120        130        140        150
EDSLSSQVRT QMELEEDVKI YLDENYERIN VPVPQFGGGD PADIIHDFQR 
       160        170        180        190        200
GLTAYHDISL DKCYVIELNT TIVLPPRNFW ELLMNVKRGT YLPQTYIIQE 
       210        220        230        240        250
EMVVTEHVSD KEALGSFIYH LCNGKDTYRL RRRATRRRIN KRGAKNCNAI 
       260 
RHFENTFVVE TLICGVV
Length:267
Mass (Da):30,224
Last modified:October 1, 2000 - 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:i234DDB91B4F282E7
GO
Isoform 2 (identifier: Q9NQX7-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     41-87: Missing.

Show »
Length:220
Mass (Da):24,956
Checksum:i9C16C85BD37BA9CC
GO
Isoform 3 (identifier: Q9NQX7-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     151-187: Missing.

Show »
Length:230
Mass (Da):25,921
Checksum:i6C8BF583B61C58D0
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 5 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
C9JG41C9JG41_HUMAN
Integral membrane protein 2
ITM2C
180Annotation score:

Annotation score:2 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>
B8ZZM6B8ZZM6_HUMAN
Integral membrane protein 2
ITM2C
205Annotation 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>
F5H4I5F5H4I5_HUMAN
Integral membrane protein 2
ITM2C
122Annotation 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>
E7EUS6E7EUS6_HUMAN
Integral membrane protein 2
ITM2C
125Annotation 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>
Q96JS4Q96JS4_HUMAN
Cerebral protein-3
ITM2C hucep-3, hCG_34338
166Annotation 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>

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>Sequence conflicti22 – 39Missing in BAC03562 (PubMed:14702039).CuratedAdd BLAST18
Sequence conflicti133V → A in BAD96417 (Ref. 8) Curated1
Sequence conflicti205T → A in CAG33489 (Ref. 7) Curated1

Natural variant

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_02211153G → S5 PublicationsCorresponds to variant dbSNP:rs2289235Ensembl.1

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_01347141 – 87Missing in isoform 2. 2 PublicationsAdd BLAST47
Alternative sequenceiVSP_013472151 – 187Missing in isoform 3. 1 PublicationAdd BLAST37

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
AB003629 mRNA Translation: BAB46927.1
AF272043 mRNA Translation: AAF89492.1
AY049777 mRNA Translation: AAL15434.1
AF271781 mRNA Translation: AAG44792.1
AL136603 mRNA Translation: CAB66538.1
AK056321 mRNA Translation: BAG51676.1
AK090975 mRNA Translation: BAC03562.1
CR457208 mRNA Translation: CAG33489.1
AK222697 mRNA Translation: BAD96417.1
AK075361 mRNA Translation: BAC11570.1
AL713651 mRNA Translation: CAD28460.1
CH471063 Genomic DNA Translation: EAW70936.1
BC002424 mRNA Translation: AAH02424.1
BC025742 mRNA Translation: AAH25742.1
BC050668 mRNA Translation: AAH50668.1
BC098563 mRNA Translation: AAH98563.1

The Consensus CDS (CCDS) project

More...CCDSi		CCDS2479.1 [Q9NQX7-1]
CCDS33395.1 [Q9NQX7-3]
CCDS33396.1 [Q9NQX7-2]

NCBI Reference Sequences

More...RefSeqi		NP_001012532.1, NM_001012514.2 [Q9NQX7-2]
NP_001012534.1, NM_001012516.2 [Q9NQX7-3]
NP_001274169.1, NM_001287240.1
NP_001274170.1, NM_001287241.1 [Q9NQX7-1]
NP_112188.1, NM_030926.5 [Q9NQX7-1]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...Ensembli		ENST00000326407; ENSP00000322100; ENSG00000135916 [Q9NQX7-3]
ENST00000326427; ENSP00000322730; ENSG00000135916 [Q9NQX7-1]
ENST00000335005; ENSP00000335121; ENSG00000135916 [Q9NQX7-2]

Database of genes from NCBI RefSeq genomes

More...GeneIDi		81618

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:81618

UCSC genome browser

More...UCSCi		uc002vqz.5, human [Q9NQX7-1]

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

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AB003629 mRNA Translation: BAB46927.1
AF272043 mRNA Translation: AAF89492.1
AY049777 mRNA Translation: AAL15434.1
AF271781 mRNA Translation: AAG44792.1
AL136603 mRNA Translation: CAB66538.1
AK056321 mRNA Translation: BAG51676.1
AK090975 mRNA Translation: BAC03562.1
CR457208 mRNA Translation: CAG33489.1
AK222697 mRNA Translation: BAD96417.1
AK075361 mRNA Translation: BAC11570.1
AL713651 mRNA Translation: CAD28460.1
CH471063 Genomic DNA Translation: EAW70936.1
BC002424 mRNA Translation: AAH02424.1
BC025742 mRNA Translation: AAH25742.1
BC050668 mRNA Translation: AAH50668.1
BC098563 mRNA Translation: AAH98563.1
CCDSiCCDS2479.1 [Q9NQX7-1]
CCDS33395.1 [Q9NQX7-3]
CCDS33396.1 [Q9NQX7-2]
RefSeqiNP_001012532.1, NM_001012514.2 [Q9NQX7-2]
NP_001012534.1, NM_001012516.2 [Q9NQX7-3]
NP_001274169.1, NM_001287240.1
NP_001274170.1, NM_001287241.1 [Q9NQX7-1]
NP_112188.1, NM_030926.5 [Q9NQX7-1]

3D structure databases

SMRiQ9NQX7
ModBaseiSearch...

Protein-protein interaction databases

BioGRIDi123553, 29 interactors
IntActiQ9NQX7, 27 interactors
STRINGi9606.ENSP00000322730

PTM databases

GlyGeniQ9NQX7, 1 site
iPTMnetiQ9NQX7
PhosphoSitePlusiQ9NQX7
SwissPalmiQ9NQX7

Genetic variation databases

BioMutaiITM2C
DMDMi12585259

Proteomic databases

EPDiQ9NQX7
jPOSTiQ9NQX7
MassIVEiQ9NQX7
MaxQBiQ9NQX7
PaxDbiQ9NQX7
PeptideAtlasiQ9NQX7
PRIDEiQ9NQX7
ProteomicsDBi82226 [Q9NQX7-1]
82227 [Q9NQX7-2]
82228 [Q9NQX7-3]

Protocols and materials databases

Antibodypedia a portal for validated antibodies

More...Antibodypediai		34409, 153 antibodies

The DNASU plasmid repository

More...DNASUi		81618

Genome annotation databases

EnsembliENST00000326407; ENSP00000322100; ENSG00000135916 [Q9NQX7-3]
ENST00000326427; ENSP00000322730; ENSG00000135916 [Q9NQX7-1]
ENST00000335005; ENSP00000335121; ENSG00000135916 [Q9NQX7-2]
GeneIDi81618
KEGGihsa:81618
UCSCiuc002vqz.5, human [Q9NQX7-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...CTDi		81618
DisGeNETi81618

GeneCards: human genes, protein and diseases

More...GeneCardsi		ITM2C
HGNCiHGNC:6175, ITM2C
HPAiENSG00000135916, Group enriched (blood, brain, intestine)
MIMi609554, gene
neXtProtiNX_Q9NQX7
OpenTargetsiENSG00000135916
PharmGKBiPA29972
VEuPathDBiHostDB:ENSG00000135916

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiKOG4681, Eukaryota
GeneTreeiENSGT00950000183115
InParanoidiQ9NQX7
OMAiARTRMEL
PhylomeDBiQ9NQX7
TreeFamiTF317770

Enzyme and pathway databases

PathwayCommonsiQ9NQX7

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

More...BioGRID-ORCSi		81618, 3 hits in 1020 CRISPR screens

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

More...ChiTaRSi		ITM2C, human

The Gene Wiki collection of pages on human genes and proteins

More...GeneWikii		ITM2C

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

More...GenomeRNAii		81618
PharosiQ9NQX7, Tbio

Protein Ontology

More...PROi		PR:Q9NQX7
RNActiQ9NQX7, protein

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

Gene expression databases

BgeeiENSG00000135916, Expressed in nucleus accumbens and 238 other tissues
ExpressionAtlasiQ9NQX7, baseline and differential
GenevisibleiQ9NQX7, 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

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 nameiITM2C_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: Q9NQX7
Secondary accession number(s): B3KPG4
, Q4G0A8, Q53H84, Q6IAE7, Q86VK5, Q8N288, Q8TAW0, Q9BUP8
<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: October 1, 2000
Last modified: September 29, 2021
This is version 168 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

Reference proteome

Documents

  1. Human chromosome 2
    Human chromosome 2: entries, gene names and cross-references to MIM
  2. Human entries with genetic variants
    List of human entries with genetic variants
  3. Human variants curated from literature reports
    Index of human variants curated from literature reports
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families
UniProt is an ELIXIR core data resource
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