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UniProtKB - Q6DN12 (MCTP2_HUMAN)

Entry version 131 (02 Dec 2020)
Sequence version 3 (20 Apr 2010)
Previous versions | rss
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Protein

Multiple C2 and transmembrane domain-containing protein 2

Gene

MCTP2

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

Might play a role in the development of cardiac outflow tract.1 Publication

<p>This subsection of the 'Function' section provides information relevant to cofactors. A cofactor is any non-protein substance required for a protein to be catalytically active. Some cofactors are inorganic, such as the metal atoms zinc, iron, and copper in various oxidation states. Others, such as most vitamins, are organic.<p><a href='/help/cofactor' target='_top'>More...</a></p>Cofactori

Ca2+PROSITE-ProRule annotation1 PublicationNote: Binds Ca2+ via the C2 domains in absence of phospholipids.1 Publication

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/function%5Fsection">Function</a> section indicates at which position the protein binds a given metal ion. The nature of the metal is indicated in the 'Description' field.<p><a href='/help/metal' target='_top'>More...</a></p>Metal bindingi210Calcium 1PROSITE-ProRule annotation1
Metal bindingi210Calcium 2PROSITE-ProRule annotation1
Metal bindingi216Calcium 1PROSITE-ProRule annotation1
Metal bindingi263Calcium 1PROSITE-ProRule annotation1
Metal bindingi263Calcium 2PROSITE-ProRule annotation1
Metal bindingi265Calcium 1PROSITE-ProRule annotation1
Metal bindingi265Calcium 2PROSITE-ProRule annotation1
Metal bindingi270Calcium 2PROSITE-ProRule annotation1
Metal bindingi525Calcium 3PROSITE-ProRule annotation1
Metal bindingi525Calcium 4PROSITE-ProRule annotation1
Metal bindingi531Calcium 3PROSITE-ProRule annotation1
Metal bindingi577Calcium 3PROSITE-ProRule annotation1
Metal bindingi577Calcium 4PROSITE-ProRule annotation1
Metal bindingi579Calcium 3PROSITE-ProRule annotation1
Metal bindingi579Calcium 4PROSITE-ProRule annotation1
Metal bindingi585Calcium 4PROSITE-ProRule annotation1

<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

  • calcium ion binding Source: HGNC-UCL
Complete GO annotation on QuickGO ...

GO - Biological processi

Complete GO annotation on QuickGO ...

<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>Keywordsi

Molecular functionDevelopmental protein
LigandCalcium, Metal-binding

Enzyme and pathway databases

Pathway Commons web resource for biological pathway data

More...PathwayCommonsi		Q6DN12

Protein family/group databases

Transport Classification Database

More...TCDBi		9.A.57.1.6, the extended-synaptotagmin (e-syt) family

<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%5Fand%5Ftaxonomy%5Fsection">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:
Multiple C2 and transmembrane domain-containing protein 2
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">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:MCTP2
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">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%5Fand%5Ftaxonomy%5Fsection">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%5Fand%5Ftaxonomy%5Fsection">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%5Fand%5Ftaxonomy%5Fsection">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%5Fmanual">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 15

Organism-specific databases

Eukaryotic Pathogen and Host Database Resources

More...EuPathDBi		HostDB:ENSG00000140563.14

Human Gene Nomenclature Database

More...HGNCi		HGNC:25636, MCTP2

Online Mendelian Inheritance in Man (OMIM)

More...MIMi		616297, gene

neXtProt; the human protein knowledge platform

More...neXtProti		NX_Q6DN12

<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%5Flocation%5Fsection">'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>Transmembranei697 – 717HelicalSequence analysisAdd BLAST21
Transmembranei802 – 822HelicalSequence analysisAdd BLAST21

Keywords - Cellular componenti

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

<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

Heterozygosity for a 2.2-Mb deletion at chromosome 15q26.2, encompassing MCTP2, has been identified in a 10-year-old girl and her 3-year-old half brother, who had both coarctation of the aorta associated with dysmorphic features and ventricular septal defects. An intragenic MCTP2 duplication, leading to premature truncation (F697X) within the first transmembrane region of the protein, has also been observed in a male patient with a non-syndromic complex cardiac malformation involving coarctation, hypoplastic left heart, mitral atresia, bicuspid aortic valve and muscular ventricular septal defect. Although the link between left ventricular outflow tract malformations and MCTP2 could not be established, it has been proposed that defects in the MCTP2 gene may contribute to phenotype. This hypothesis is supported by the observation that Xenopus laevis embryos treated with MCTP2 morpholinos show no evidence of endocardial cushion formation at any level of the developing outflow tract (PubMed:23773997).1 Publication

Organism-specific databases

DisGeNET

More...DisGeNETi		55784

MalaCards human disease database

More...MalaCardsi		MCTP2

Open Targets

More...OpenTargetsi		ENSG00000140563

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

More...Orphaneti		1596, Distal monosomy 15q

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...PharmGKBi		PA142671473

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...Pharosi		Q6DN12, Tbio

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...BioMutai		MCTP2

Domain mapping of disease mutations (DMDM)

More...DMDMi		294862501

<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_00002944721 – 878Multiple C2 and transmembrane domain-containing protein 2Add BLAST878

Proteomic databases

Encyclopedia of Proteome Dynamics

More...EPDi		Q6DN12

jPOST - Japan Proteome Standard Repository/Database

More...jPOSTi		Q6DN12

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...MassIVEi		Q6DN12

MaxQB - The MaxQuant DataBase

More...MaxQBi		Q6DN12

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

More...PaxDbi		Q6DN12

PeptideAtlas

More...PeptideAtlasi		Q6DN12

PRoteomics IDEntifications database

More...PRIDEi		Q6DN12

ProteomicsDB: a multi-organism proteome resource

More...ProteomicsDBi		66238 [Q6DN12-1]
66239 [Q6DN12-2]
66240 [Q6DN12-3]
66241 [Q6DN12-4]
66242 [Q6DN12-6]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		Q6DN12

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

More...PhosphoSitePlusi		Q6DN12

<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

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...Bgeei		ENSG00000140563, Expressed in blood and 201 other tissues

ExpressionAtlas, Differential and Baseline Expression

More...ExpressionAtlasi		Q6DN12, baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		Q6DN12, HS

Organism-specific databases

Human Protein Atlas

More...HPAi		ENSG00000140563, Tissue enhanced (lymphoid)

<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

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGRID)

More...BioGRIDi		120898, 2 interactors

Protein interaction database and analysis system

More...IntActi		Q6DN12, 1 interactor

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000350377

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...RNActi		Q6DN12, 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

Secondary structure

1878
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

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

More...SMRi		Q6DN12

Database of comparative protein structure models

More...ModBasei		Search...

Protein Data Bank in Europe - Knowledge Base

More...PDBe-KBi		Search...

Miscellaneous databases

Relative evolutionary importance of amino acids within a protein sequence

More...EvolutionaryTracei		Q6DN12

<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%5Fand%5Fdomains%5Fsection">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>Domaini177 – 292C2 1PROSITE-ProRule annotationAdd BLAST116
Domaini334 – 452C2 2PROSITE-ProRule annotationAdd BLAST119
Domaini494 – 607C2 3PROSITE-ProRule annotationAdd BLAST114

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Family and Domains' section describes the position of regions of compositional bias within the protein and the particular amino acids that are over-represented within those regions.<p><a href='/help/compbias' target='_top'>More...</a></p>Compositional biasi91 – 95Poly-Ser5

<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 MCTP family.Curated

Keywords - Domaini

Repeat, Transmembrane, Transmembrane helix

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...eggNOGi		KOG1030, Eukaryota

Ensembl GeneTree

More...GeneTreei		ENSGT00940000156291

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...HOGENOMi		CLU_1371782_0_0_1

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		Q6DN12

Identification of Orthologs from Complete Genome Data

More...OMAi		QFLRSCF

Database of Orthologous Groups

More...OrthoDBi		234298at2759

Database for complete collections of gene phylogenies

More...PhylomeDBi		Q6DN12

TreeFam database of animal gene trees

More...TreeFami		TF323373

Family and domain databases

Gene3D Structural and Functional Annotation of Protein Families

More...Gene3Di		2.60.40.150, 3 hits

Integrated resource of protein families, domains and functional sites

More...InterProi		View protein in InterPro
IPR000008, C2_dom
IPR035892, C2_domain_sf
IPR013583, PRibTrfase_C

Pfam protein domain database

More...Pfami		View protein in Pfam
PF00168, C2, 3 hits
PF08372, PRT_C, 1 hit

Simple Modular Architecture Research Tool; a protein domain database

More...SMARTi		View protein in SMART
SM00239, C2, 3 hits

PROSITE; a protein domain and family database

More...PROSITEi		View protein in PROSITE
PS50004, C2, 3 hits

<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%5Flength">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 (5+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">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.

This entry describes 5 <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. This section is only present in reviewed entries, i.e. in UniProtKB/Swiss-Prot.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 5 described isoforms and 1 potential isoform that is computationally mapped.Show allAlign All

Isoform 1 (identifier: Q6DN12-1) [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
MDLDKPSVWG SLKQRTRPLL INLSKKKVKK NPSKPPDLRA RHHLDRRLSL 
        60         70         80         90        100
SVPDLLEAEA LAPEGRPYSG PQSSYTSVPS SLSTAGIFPK SSSSSLKQSE 
       110        120        130        140        150
EELDWSQEEA SHLHVVETDS EEAYASPAER RRVSSNGIFD LQKTSLGGDA 
       160        170        180        190        200
PEEPEKLCGS SDLNASMTSQ HFEEQSVPGE ASDGLSNLPS PFAYLLTIHL 
       210        220        230        240        250
KEGRNLVVRD RCGTSDPYVK FKLNGKTLYK SKVIYKNLNP VWDEIVVLPI 
       260        270        280        290        300
QSLDQKLRVK VYDRDLTTSD FMGSAFVILS DLELNRTTEH ILKLEDPNSL 
       310        320        330        340        350
EDDMGVIVLN LNLVVKQGDF KRHRWSNRKR LSASKSSLIR NLRLSESLKK 
       360        370        380        390        400
NQLWNGIISI TLLEGKNVSG GSMTEMFVQL KLGDQRYKSK TLCKSANPQW 
       410        420        430        440        450
QEQFDFHYFS DRMGILDIEV WGKDNKKHEE RLGTCKVDIS ALPLKQANCL 
       460        470        480        490        500
ELPLDSCLGA LLMLVTLTPC AGVSVSDLCV CPLADLSERK QITQRYCLQN 
       510        520        530        540        550
SLKDVKDVGI LQVKVLKAAD LLAADFSGKS DPFCLLELGN DRLQTHTVYK 
       560        570        580        590        600
NLNPEWNKVF TFPIKDIHDV LEVTVFDEDG DKPPDFLGKV AIPLLSIRDG 
       610        620        630        640        650
QPNCYVLKNK DLEQAFKGVI YLEMDLIYNP VKASIRTFTP REKRFVEDSR 
       660        670        680        690        700
KLSKKILSRD VDRVKRITMA IWNTMQFLKS CFQWESTLRS TIAFAVFLIT 
       710        720        730        740        750
VWNFELYMIP LALLLIFVYN FIRPVKGKVS SIQDSQESTD IDDEEDEDDK 
       760        770        780        790        800
ESEKKGLIER IYMVQDIVST VQNVLEEIAS FGERIKNTFN WTVPFLSSLA 
       810        820        830        840        850
CLILAAATII LYFIPLRYII LIWGINKFTK KLRNPYSIDN NELLDFLSRV 
       860        870 
PSDVQKVQYA ELKLCSSHSP LRKKRSAL
Length:878
Mass (Da):99,596
Last modified:April 20, 2010 - v3
<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:i96BD26FA822C1F49
GO
Isoform 2 (identifier: Q6DN12-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     696-750: Missing.

Show »
Length:823
Mass (Da):93,160
Checksum:iC451D30B4C239D17
GO
Isoform 3 (identifier: Q6DN12-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-412: Missing.

Show »
Length:466
Mass (Da):53,193
Checksum:iE4113A5062F58D6E
GO
Isoform 4 (identifier: Q6DN12-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-412: Missing.
     696-718: VFLITVWNFELYMIPLALLLIFV → HRKEEPPLSMKCTLFSGDIGPSL
     719-878: Missing.

Show »
Length:306
Mass (Da):34,551
Checksum:i43D9AD722566B343
GO
Isoform 5 (identifier: Q6DN12-6) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     177-199: VPGEASDGLSNLPSPFAYLLTIH → DSQKFEMTQKFNWAHVIHIQKQT
     200-878: Missing.

Note: May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.Curated
Show »
Length:199
Mass (Da):22,200
Checksum:i0BA8316699DC5AA5
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 is 1 potential isoform mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
F5H415F5H415_HUMAN
Multiple C2 and transmembrane domai...
MCTP2
396Annotation 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>

<p>This subsection of the 'Sequence' section reports difference(s) between the protein sequence shown in the UniProtKB entry and other available protein sequences derived from the same gene.<p><a href='/help/sequence_caution' target='_top'>More...</a></p>Sequence cautioni

The sequence AAH41387 differs from that shown. Reason: Erroneous translation. Wrong choice of CDS.Curated
The sequence BAA91998 differs from that shown. Reason: Erroneous initiation. Truncated N-terminus.Curated

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 conflicti403Q → H in AAT73060 (PubMed:15528213).Curated1
Sequence conflicti501S → P in AAT73060 (PubMed:15528213).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_07342146R → H Found in a patient with left-sided obstructive cardiac lesions; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs61735139EnsemblClinVar.1
Natural variantiVAR_07342247R → H Found in a patient with left-sided obstructive cardiac lesions; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs149133063EnsemblClinVar.1
Natural variantiVAR_07342360A → T Found in a patient with left-sided obstructive cardiac lesions; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs143256791EnsemblClinVar.1
Natural variantiVAR_073424203G → D Found in a patient with left-sided obstructive cardiac lesions; unknown pathological significance; alters Ca(2+)-binding affinity. 1 PublicationCorresponds to variant dbSNP:rs201530723EnsemblClinVar.1
Natural variantiVAR_073425235Y → C Found in a patient with left-sided obstructive cardiac lesions; unknown pathological significance; alters Ca(2+)-binding affinity. 1 PublicationCorresponds to variant dbSNP:rs191271656Ensembl.1
Natural variantiVAR_073426475V → I Found in a patient with left-sided obstructive cardiac lesions; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs200107854Ensembl.1
Natural variantiVAR_073427695A → V Found in a patient with left-sided obstructive cardiac lesions; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs370153540Ensembl.1
Natural variantiVAR_033190877A → T. Corresponds to variant dbSNP:rs34193492EnsemblClinVar.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_0266621 – 412Missing in isoform 3 and isoform 4. 2 PublicationsAdd BLAST412
Alternative sequenceiVSP_038981177 – 199VPGEA…LLTIH → DSQKFEMTQKFNWAHVIHIQ KQT in isoform 5. 1 PublicationAdd BLAST23
Alternative sequenceiVSP_038982200 – 878Missing in isoform 5. 1 PublicationAdd BLAST679
Alternative sequenceiVSP_026664696 – 750Missing in isoform 2. 1 PublicationAdd BLAST55
Alternative sequenceiVSP_026665696 – 718VFLIT…LLIFV → HRKEEPPLSMKCTLFSGDIG PSL in isoform 4. 1 PublicationAdd BLAST23
Alternative sequenceiVSP_026666719 – 878Missing in isoform 4. 1 PublicationAdd BLAST160

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
AY656717 mRNA Translation: AAT73060.1
AK001953 mRNA Translation: BAA91998.1 Different initiation.
AK002037 mRNA Translation: BAA92048.1
FJ515839 Genomic DNA Translation: ACS13731.1
FJ515839 Genomic DNA Translation: ACS13732.1
AC103749 Genomic DNA No translation available.
AC135626 Genomic DNA No translation available.
BC025708 mRNA Translation: AAH25708.1
BC041387 mRNA Translation: AAH41387.1 Sequence problems.
BC111024 mRNA Translation: AAI11025.1
BC131527 mRNA Translation: AAI31528.1

The Consensus CDS (CCDS) project

More...CCDSi		CCDS32338.1 [Q6DN12-1]
CCDS53975.1 [Q6DN12-2]
CCDS53976.1 [Q6DN12-4]

NCBI Reference Sequences

More...RefSeqi		NP_001153115.1, NM_001159643.1 [Q6DN12-2]
NP_001153116.1, NM_001159644.1 [Q6DN12-4]
NP_060819.3, NM_018349.3 [Q6DN12-1]
XP_005255012.1, XM_005254955.3
XP_005255017.1, XM_005254960.2 [Q6DN12-3]
XP_006720666.1, XM_006720603.2
XP_011520073.1, XM_011521771.2
XP_011520074.1, XM_011521772.2
XP_016877893.1, XM_017022404.1 [Q6DN12-2]
XP_016877894.1, XM_017022405.1 [Q6DN12-2]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...Ensembli		ENST00000357742; ENSP00000350377; ENSG00000140563 [Q6DN12-1]
ENST00000451018; ENSP00000395109; ENSG00000140563 [Q6DN12-2]
ENST00000456504; ENSP00000388887; ENSG00000140563 [Q6DN12-6]
ENST00000557742; ENSP00000454847; ENSG00000140563 [Q6DN12-4]

Database of genes from NCBI RefSeq genomes

More...GeneIDi		55784

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:55784

UCSC genome browser

More...UCSCi		uc002btj.4, human [Q6DN12-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

<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
AY656717 mRNA Translation: AAT73060.1
AK001953 mRNA Translation: BAA91998.1 Different initiation.
AK002037 mRNA Translation: BAA92048.1
FJ515839 Genomic DNA Translation: ACS13731.1
FJ515839 Genomic DNA Translation: ACS13732.1
AC103749 Genomic DNA No translation available.
AC135626 Genomic DNA No translation available.
BC025708 mRNA Translation: AAH25708.1
BC041387 mRNA Translation: AAH41387.1 Sequence problems.
BC111024 mRNA Translation: AAI11025.1
BC131527 mRNA Translation: AAI31528.1
CCDSiCCDS32338.1 [Q6DN12-1]
CCDS53975.1 [Q6DN12-2]
CCDS53976.1 [Q6DN12-4]
RefSeqiNP_001153115.1, NM_001159643.1 [Q6DN12-2]
NP_001153116.1, NM_001159644.1 [Q6DN12-4]
NP_060819.3, NM_018349.3 [Q6DN12-1]
XP_005255012.1, XM_005254955.3
XP_005255017.1, XM_005254960.2 [Q6DN12-3]
XP_006720666.1, XM_006720603.2
XP_011520073.1, XM_011521771.2
XP_011520074.1, XM_011521772.2
XP_016877893.1, XM_017022404.1 [Q6DN12-2]
XP_016877894.1, XM_017022405.1 [Q6DN12-2]

3D structure databases

Select the link destinations:

Protein Data Bank Europe

More...PDBei

Protein Data Bank RCSB

More...RCSB PDBi

Protein Data Bank Japan

More...PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
2EP6NMR-A504-629[»]
SMRiQ6DN12
ModBaseiSearch...
PDBe-KBiSearch...

Protein-protein interaction databases

BioGRIDi120898, 2 interactors
IntActiQ6DN12, 1 interactor
STRINGi9606.ENSP00000350377

Protein family/group databases

TCDBi9.A.57.1.6, the extended-synaptotagmin (e-syt) family

PTM databases

iPTMnetiQ6DN12
PhosphoSitePlusiQ6DN12

Polymorphism and mutation databases

BioMutaiMCTP2
DMDMi294862501

Proteomic databases

EPDiQ6DN12
jPOSTiQ6DN12
MassIVEiQ6DN12
MaxQBiQ6DN12
PaxDbiQ6DN12
PeptideAtlasiQ6DN12
PRIDEiQ6DN12
ProteomicsDBi66238 [Q6DN12-1]
66239 [Q6DN12-2]
66240 [Q6DN12-3]
66241 [Q6DN12-4]
66242 [Q6DN12-6]

Protocols and materials databases

Antibodypedia a portal for validated antibodies

More...Antibodypediai		29077, 133 antibodies

Genome annotation databases

EnsembliENST00000357742; ENSP00000350377; ENSG00000140563 [Q6DN12-1]
ENST00000451018; ENSP00000395109; ENSG00000140563 [Q6DN12-2]
ENST00000456504; ENSP00000388887; ENSG00000140563 [Q6DN12-6]
ENST00000557742; ENSP00000454847; ENSG00000140563 [Q6DN12-4]
GeneIDi55784
KEGGihsa:55784
UCSCiuc002btj.4, human [Q6DN12-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...CTDi		55784
DisGeNETi55784
EuPathDBiHostDB:ENSG00000140563.14

GeneCards: human genes, protein and diseases

More...GeneCardsi		MCTP2
HGNCiHGNC:25636, MCTP2
HPAiENSG00000140563, Tissue enhanced (lymphoid)
MalaCardsiMCTP2
MIMi616297, gene
neXtProtiNX_Q6DN12
OpenTargetsiENSG00000140563
Orphaneti1596, Distal monosomy 15q
PharmGKBiPA142671473

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiKOG1030, Eukaryota
GeneTreeiENSGT00940000156291
HOGENOMiCLU_1371782_0_0_1
InParanoidiQ6DN12
OMAiQFLRSCF
OrthoDBi234298at2759
PhylomeDBiQ6DN12
TreeFamiTF323373

Enzyme and pathway databases

PathwayCommonsiQ6DN12

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

More...BioGRID-ORCSi		55784, 3 hits in 837 CRISPR screens

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

More...ChiTaRSi		MCTP2, human
EvolutionaryTraceiQ6DN12

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

More...GenomeRNAii		55784
PharosiQ6DN12, Tbio

Protein Ontology

More...PROi		PR:Q6DN12
RNActiQ6DN12, protein

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

Gene expression databases

BgeeiENSG00000140563, Expressed in blood and 201 other tissues
ExpressionAtlasiQ6DN12, baseline and differential
GenevisibleiQ6DN12, HS

Family and domain databases

Gene3Di2.60.40.150, 3 hits
InterProiView protein in InterPro
IPR000008, C2_dom
IPR035892, C2_domain_sf
IPR013583, PRibTrfase_C
PfamiView protein in Pfam
PF00168, C2, 3 hits
PF08372, PRT_C, 1 hit
SMARTiView protein in SMART
SM00239, C2, 3 hits
PROSITEiView protein in PROSITE
PS50004, C2, 3 hits

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 nameiMCTP2_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: Q6DN12
Secondary accession number(s): A2RRC2
, C6G483, C6G484, Q49AB0, Q8TAX2, Q9NUS2, Q9NUW7
<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%5Fand%5Fisoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: July 10, 2007
Last sequence update: April 20, 2010
Last modified: December 2, 2020
This is version 131 of the entry and version 3 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

3D-structure, Reference proteome

Documents

  1. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  2. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  3. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  4. SIMILARITY comments
    Index of protein domains and families
  5. Human chromosome 15
    Human chromosome 15: entries, gene names and cross-references to MIM
  6. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
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