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Aliases for MCTP2 Gene

Aliases for MCTP2 Gene

  • Multiple C2 Domains, Transmembrane 2 2 3

External Ids for MCTP2 Gene

Previous GeneCards Identifiers for MCTP2 Gene

  • GC15P092575
  • GC15P092642
  • GC15P094774
  • GC15P070976
  • GC15P094374

Summaries for MCTP2 Gene

GeneCards Summary for MCTP2 Gene

MCTP2 (Multiple C2 Domains, Transmembrane 2) is a Protein Coding gene. Diseases associated with MCTP2 include distal monosomy 15q and mitral atresia. GO annotations related to this gene include calcium ion binding and calcium-dependent phospholipid binding. An important paralog of this gene is MCTP1.

UniProtKB/Swiss-Prot for MCTP2 Gene

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

No data available for Entrez Gene Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for MCTP2 Gene

Genomics for MCTP2 Gene

Regulatory Elements for MCTP2 Gene

Genomic Location for MCTP2 Gene

Chromosome:
15
Start:
94,231,538 bp from pter
End:
94,483,952 bp from pter
Size:
252,415 bases
Orientation:
Plus strand

Genomic View for MCTP2 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for MCTP2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for MCTP2 Gene

Proteins for MCTP2 Gene

  • Protein details for MCTP2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q6DN12-MCTP2_HUMAN
    Recommended name:
    Multiple C2 and transmembrane domain-containing protein 2
    Protein Accession:
    Q6DN12
    Secondary Accessions:
    • A2RRC2
    • C6G483
    • C6G484
    • Q49AB0
    • Q8TAX2
    • Q9NUS2
    • Q9NUW7

    Protein attributes for MCTP2 Gene

    Size:
    878 amino acids
    Molecular mass:
    99596 Da
    Cofactor:
    Name=Ca(2+); Xref=ChEBI:CHEBI:29108; Note=Binds Ca(2+) via the C2 domains in absence of phospholipids.;
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=AAH41387.1; Type=Erroneous translation; Note=Wrong choice of CDS.; Evidence={ECO:0000305}; Sequence=BAA91998.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for MCTP2 Gene

    Alternative splice isoforms for MCTP2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for MCTP2 Gene

Proteomics data for MCTP2 Gene at MOPED

Post-translational modifications for MCTP2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for MCTP2 Gene

No data available for DME Specific Peptides for MCTP2 Gene

Domains & Families for MCTP2 Gene

Gene Families for MCTP2 Gene

Protein Domains for MCTP2 Gene

InterPro:
Blocks:
ProtoNet:

Suggested Antigen Peptide Sequences for MCTP2 Gene

Graphical View of Domain Structure for InterPro Entry

Q6DN12

UniProtKB/Swiss-Prot:

MCTP2_HUMAN :
  • Contains 3 C2 domains.
  • Belongs to the MCTP family.
Domain:
  • Contains 3 C2 domains.
Family:
  • Belongs to the MCTP family.
genes like me logo Genes that share domains with MCTP2: view

Function for MCTP2 Gene

Molecular function for MCTP2 Gene

UniProtKB/Swiss-Prot Function:
Might play a role in the development of cardiac outflow tract.

Gene Ontology (GO) - Molecular Function for MCTP2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005509 calcium ion binding IDA 15528213
GO:0005515 protein binding --
GO:0005544 NOT calcium-dependent phospholipid binding IDA 15528213
genes like me logo Genes that share ontologies with MCTP2: view

Phenotypes for MCTP2 Gene

GenomeRNAi human phenotypes for MCTP2:
genes like me logo Genes that share phenotypes with MCTP2: view

Animal Model Products

miRNA for MCTP2 Gene

miRTarBase miRNAs that target MCTP2

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for MCTP2

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets and HOMER Transcription for MCTP2 Gene

Localization for MCTP2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for MCTP2 Gene

Membrane; Multi-pass membrane protein.

Gene Ontology (GO) - Cellular Components for MCTP2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005622 intracellular NAS 15528213
GO:0016020 membrane IDA 19946888
GO:0016021 integral component of membrane IDA 15528213
genes like me logo Genes that share ontologies with MCTP2: view

No data available for Subcellular locations from COMPARTMENTS for MCTP2 Gene

Pathways & Interactions for MCTP2 Gene

SuperPathways for MCTP2 Gene

No Data Available

Interacting Proteins for MCTP2 Gene

STRING Interaction Network Preview (showing 2 interactants - click image to see details)
http://string-db.org/version_10/api/image/networkList?limit=0&targetmode=proteins&caller_identity=gene_cards&network_flavor=evidence&identifiers=9606.ENSP00000350377%0d%0a9606.ENSP00000344818%0d%0a9606.ENSP00000350874%0d%0a
Selected Interacting proteins: Q6DN12-MCTP2_HUMAN ENSP00000350377 for MCTP2 Gene via I2D STRING

Gene Ontology (GO) - Biological Process for MCTP2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007275 multicellular organismal development IEA --
GO:0019722 calcium-mediated signaling NAS 15528213
genes like me logo Genes that share ontologies with MCTP2: view

No data available for Pathways by source and SIGNOR curated interactions for MCTP2 Gene

Drugs & Compounds for MCTP2 Gene

(1) Drugs for MCTP2 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Calcium Nutra 0
genes like me logo Genes that share compounds with MCTP2: view

Transcripts for MCTP2 Gene

Unigene Clusters for MCTP2 Gene

Multiple C2 domains, transmembrane 2:
Representative Sequences:

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for MCTP2

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for MCTP2 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10a · 10b ^ 11 ^ 12a · 12b · 12c ^ 13a · 13b ^ 14 ^ 15 ^ 16 ^ 17a · 17b ^ 18 ^ 19a · 19b ^ 20 ^
SP1: - - - - -
SP2: - - -
SP3: - - - - -
SP4: - - -
SP5: - -
SP6: - - -
SP7:
SP8:

ExUns: 21 ^ 22 ^ 23 ^ 24 ^ 25 ^ 26 ^ 27 ^ 28a · 28b · 28c
SP1: - -
SP2: - -
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:

Relevant External Links for MCTP2 Gene

GeneLoc Exon Structure for
MCTP2
ECgene alternative splicing isoforms for
MCTP2

Expression for MCTP2 Gene

mRNA expression in normal human tissues for MCTP2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for MCTP2 Gene

This gene is overexpressed in Whole Blood (x18.4).

Protein differential expression in normal tissues from HIPED for MCTP2 Gene

This gene is overexpressed in Peripheral blood mononuclear cells (28.0), CD8 Tcells (17.2), Blymphocyte (12.7), and Platelet (10.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for MCTP2 Gene



SOURCE GeneReport for Unigene cluster for MCTP2 Gene Hs.33368

genes like me logo Genes that share expression patterns with MCTP2: view

Protein tissue co-expression partners for MCTP2 Gene

- Elite partner

Primer Products

In Situ Assay Products

No data available for mRNA Expression by UniProt/SwissProt for MCTP2 Gene

Orthologs for MCTP2 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for MCTP2 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia MCTP2 35
  • 89.02 (n)
  • 90.65 (a)
MCTP2 36
  • 90 (a)
OneToOne
dog
(Canis familiaris)
Mammalia MCTP2 35
  • 91.31 (n)
  • 92.82 (a)
MCTP2 36
  • 93 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Mctp2 35
  • 85.88 (n)
  • 89.29 (a)
Mctp2 16
Mctp2 36
  • 89 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia MCTP2 35
  • 98.37 (n)
  • 98.06 (a)
MCTP2 36
  • 98 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Mctp2 35
  • 85.21 (n)
  • 89.22 (a)
oppossum
(Monodelphis domestica)
Mammalia MCTP2 36
  • 87 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia MCTP2 36
  • 82 (a)
OneToOne
chicken
(Gallus gallus)
Aves LOC426324 35
  • 72.44 (n)
  • 71.27 (a)
MCTP2 36
  • 70 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia MCTP2 36
  • 68 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia mctp2 35
  • 66.82 (n)
  • 65.06 (a)
zebrafish
(Danio rerio)
Actinopterygii mctp2a 35
  • 58.86 (n)
  • 52.86 (a)
mctp2a 36
  • 45 (a)
OneToMany
mctp2b 36
  • 54 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta Mctp 36
  • 32 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea D2092.1 36
  • 32 (a)
OneToMany
rice
(Oryza sativa)
Liliopsida Os04g0691800 35
  • 37.31 (n)
  • 25.04 (a)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.9926 36
  • 37 (a)
OneToMany
Species with no ortholog for MCTP2:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for MCTP2 Gene

ENSEMBL:
Gene Tree for MCTP2 (if available)
TreeFam:
Gene Tree for MCTP2 (if available)

Paralogs for MCTP2 Gene

Paralogs for MCTP2 Gene

(2) SIMAP similar genes for MCTP2 Gene using alignment to 2 proteins:

genes like me logo Genes that share paralogs with MCTP2: view

Variants for MCTP2 Gene

Sequence variations from dbSNP and Humsavar for MCTP2 Gene

SNP ID Clin Chr 15 pos Sequence Context AA Info Type MAF
rs184151 -- 94,310,643(-) ttttt(A/G)taGAG intron-variant
rs186056 -- 94,457,108(-) TAGAA(G/T)TTTAG intron-variant
rs189755 -- 94,471,737(-) ATCAG(G/T)GGCCC intron-variant
rs293574 -- 94,455,478(-) cctgg(C/T)gacag intron-variant
rs293575 -- 94,455,255(-) taaga(C/G)aatat intron-variant

Structural Variations from Database of Genomic Variants (DGV) for MCTP2 Gene

Variant ID Type Subtype PubMed ID
nsv904517 CNV Gain 21882294
nsv904518 CNV Gain 21882294
nsv833097 CNV Gain 17160897
nsv519193 CNV Loss 19592680
nsv904521 CNV Gain 21882294
nsv820715 CNV Duplication 20802225
dgv447n67 CNV Loss 20364138
nsv827440 CNV Gain+Loss 20364138
esv22514 CNV Loss 19812545
nsv513437 CNV Insertion 21212237
esv2474634 CNV Insertion 19546169
nsv520668 CNV Loss 19592680
nsv904522 CNV Loss 21882294
esv2750070 CNV Deletion 23290073
esv2750071 CNV Deletion 23290073
esv1007834 CNV Deletion 20482838
esv1647697 CNV Deletion 17803354

Variation tolerance for MCTP2 Gene

Residual Variation Intolerance Score: 77.03% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 7.19; 80.89% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for MCTP2 Gene

HapMap Linkage Disequilibrium report
MCTP2
Human Gene Mutation Database (HGMD)
MCTP2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for MCTP2 Gene

Disorders for MCTP2 Gene

MalaCards: The human disease database

(2) MalaCards diseases for MCTP2 Gene - From: Orphanet and GeneCards

Disorder Aliases PubMed IDs
distal monosomy 15q
  • 15q26 deletion syndrome
mitral atresia
- elite association
Search MCTP2 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

MCTP2_HUMAN
  • Note=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). {ECO:0000269 PubMed:23773997}.

Relevant External Links for MCTP2

Genetic Association Database (GAD)
MCTP2
Human Genome Epidemiology (HuGE) Navigator
MCTP2
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
MCTP2
genes like me logo Genes that share disorders with MCTP2: view

No data available for Genatlas for MCTP2 Gene

Publications for MCTP2 Gene

  1. Evolutionarily conserved multiple C2 domain proteins with two transmembrane regions (MCTPs) and unusual Ca2+ binding properties. (PMID: 15528213) Shin O.H. … Sudhof T.C. (J. Biol. Chem. 2005) 2 67
  2. Genetic susceptibility for chronic bronchitis in chronic obstructive pulmonary disease. (PMID: 25241909) Lee J. … Silverman E.K. (Respir. Res. 2014) 67
  3. Genome-wide association studies and heritability estimates of body mass index related phenotypes in Bangladeshi adults. (PMID: 25133637) Scannell Bryan M. … Ahsan H. (PLoS ONE 2014) 67
  4. MCTP2 is a dosage-sensitive gene required for cardiac outflow tract development. (PMID: 23773997) Lalani S.R. … Belmont J.W. (Hum. Mol. Genet. 2013) 67
  5. Genome-wide association study identifies novel loci associated with concentrations of four plasma phospholipid fatty acids in the de novo lipogenesis pathway: results from the Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) consortium. (PMID: 23362303) Wu J.H. … Mozaffarian D. (Circ Cardiovasc Genet 2013) 67

Products for MCTP2 Gene

Sources for MCTP2 Gene

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