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Aliases for MCTP2 Gene

Aliases for MCTP2 Gene

  • Multiple C2 And Transmembrane Domain Containing 2 2 3
  • Multiple C2 Domains, Transmembrane 2 2 5

External Ids for MCTP2 Gene

Previous GeneCards Identifiers for MCTP2 Gene

  • GC15P092575
  • GC15P092642
  • GC15P094774
  • GC15P070976
  • GC15P094374
  • GC15P094377
  • GC15P094754

Summaries for MCTP2 Gene

GeneCards Summary for MCTP2 Gene

MCTP2 (Multiple C2 And Transmembrane Domain Containing 2) is a Protein Coding gene. Diseases associated with MCTP2 include Mitral Atresia and Chromosome 15Q26-Qter Deletion Syndrome. 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

Enhancers for MCTP2 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
- Elite enhancer/Elite enhancer-gene association

Enhancers around MCTP2 on UCSC Golden Path with GeneCards custom track

Promoters for MCTP2 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around MCTP2 on UCSC Golden Path with GeneCards custom track

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

Genes around MCTP2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
MCTP2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
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;
    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

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:0005544 NOT calcium-dependent phospholipid binding IDA 15528213
genes like me logo Genes that share ontologies with MCTP2: view
genes like me logo Genes that share phenotypes with MCTP2: view

Human Phenotype Ontology for MCTP2 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

CRISPR Products

miRNA for MCTP2 Gene

miRTarBase miRNAs that target MCTP2

Inhibitory RNA Products

Clone 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.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for MCTP2 Gene COMPARTMENTS Subcellular localization image for MCTP2 gene
Compartment Confidence
nucleus 5
endoplasmic reticulum 4
plasma membrane 2
cytosol 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for MCTP2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005654 nucleoplasm IDA --
GO:0005737 cytoplasm IDA --
GO:0005783 endoplasmic reticulum IBA --
GO:0016020 membrane IDA 19946888
GO:0016021 integral component of membrane IDA 15528213
genes like me logo Genes that share ontologies with MCTP2: view

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: ENSP00000350377 Q6DN12-MCTP2_HUMAN for MCTP2 Gene via STRING IID

Gene Ontology (GO) - Biological Process for MCTP2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007275 multicellular organism 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:

CRISPR Products

Inhibitory RNA Products

Clone Products

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, MaxQB, and MOPED for MCTP2 Gene



Protein tissue co-expression partners for MCTP2 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of MCTP2 Gene:

MCTP2

SOURCE GeneReport for Unigene cluster for MCTP2 Gene:

Hs.33368
genes like me logo Genes that share expression patterns with MCTP2: view

Primer 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 34
  • 89.02 (n)
  • 90.65 (a)
MCTP2 35
  • 90 (a)
OneToOne
dog
(Canis familiaris)
Mammalia MCTP2 34
  • 91.31 (n)
  • 92.82 (a)
MCTP2 35
  • 93 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Mctp2 34
  • 85.88 (n)
  • 89.29 (a)
Mctp2 16
Mctp2 35
  • 89 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia MCTP2 34
  • 98.37 (n)
  • 98.06 (a)
MCTP2 35
  • 98 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Mctp2 34
  • 85.21 (n)
  • 89.22 (a)
oppossum
(Monodelphis domestica)
Mammalia MCTP2 35
  • 87 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia MCTP2 35
  • 82 (a)
OneToOne
chicken
(Gallus gallus)
Aves LOC426324 34
  • 72.44 (n)
  • 71.27 (a)
MCTP2 35
  • 70 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia MCTP2 35
  • 68 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia mctp2 34
  • 66.82 (n)
  • 65.06 (a)
zebrafish
(Danio rerio)
Actinopterygii mctp2a 34
  • 58.86 (n)
  • 52.86 (a)
mctp2a 35
  • 45 (a)
OneToMany
mctp2b 35
  • 54 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta Mctp 35
  • 32 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea D2092.1 35
  • 32 (a)
OneToMany
rice
(Oryza sativa)
Liliopsida Os04g0691800 34
  • 37.31 (n)
  • 25.04 (a)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.9926 35
  • 37 (a)
OneToMany
Species where no ortholog for MCTP2 was found in the sources mined by GeneCards:
  • 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
rs34193492 - 94,479,026(+) GCAGC(A/G)CTCTC reference, missense
rs61735139 - 94,298,402(+) GGACC(A/G)CCGTC nc-transcript-variant, reference, missense
rs149133063 - 94,298,405(+) CCGCC(A/G/T)TCTCA nc-transcript-variant, reference, missense
rs143256791 - 94,298,443(+) CTGAG(A/G)CCTTG nc-transcript-variant, reference, missense
rs201530723 - 94,315,608(+) GGAAG(A/G)CCGGA nc-transcript-variant, reference, missense

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

Variant ID Type Subtype PubMed ID
dgv447n67 CNV loss 20364138
dgv4731n54 CNV loss 21841781
dgv4732n54 CNV loss 21841781
dgv4733n54 CNV gain 21841781
dgv4734n54 CNV loss 21841781
dgv4735n54 CNV gain+loss 21841781
dgv4736n54 CNV gain 21841781
dgv4737n54 CNV gain 21841781
dgv4738n54 CNV gain+loss 21841781
dgv4739n54 CNV loss 21841781
esv1007834 CNV deletion 20482838
esv1647697 CNV deletion 17803354
esv22514 CNV loss 19812545
esv2474634 CNV insertion 19546169
esv2750070 CNV deletion 23290073
esv2750071 CNV deletion 23290073
esv2761884 CNV loss 21179565
esv3347274 CNV duplication 20981092
esv3581837 CNV loss 25503493
esv3637312 CNV loss 21293372
esv3637314 CNV loss 21293372
esv3637316 CNV loss 21293372
esv3892729 CNV loss 25118596
nsv1047585 CNV gain 25217958
nsv1052428 CNV loss 25217958
nsv1052465 CNV gain 25217958
nsv1112677 CNV deletion 24896259
nsv1122996 CNV deletion 24896259
nsv1131215 CNV deletion 24896259
nsv513437 CNV insertion 21212237
nsv519193 CNV loss 19592680
nsv520668 CNV loss 19592680
nsv570534 CNV gain 21841781
nsv570543 CNV gain 21841781
nsv570550 CNV gain+loss 21841781
nsv570555 CNV loss 21841781
nsv570560 CNV gain 21841781
nsv570561 CNV loss 21841781
nsv820715 CNV duplication 20802225
nsv827440 CNV gain+loss 20364138
nsv833097 CNV gain 17160897
nsv958033 CNV deletion 24416366

Variation tolerance for MCTP2 Gene

Residual Variation Intolerance Score: 77% 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

Human Gene Mutation Database (HGMD)
MCTP2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
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
mitral atresia
chromosome 15q26-qter deletion syndrome
  • 15q26 deletion syndrome
- elite association - COSMIC cancer census association via MalaCards
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 3 4 65
  2. MCTP2 is a dosage-sensitive gene required for cardiac outflow tract development. (PMID: 23773997) Lalani S.R. … Belmont J.W. (Hum. Mol. Genet. 2013) 3 4 65
  3. GWAS for discovery and replication of genetic loci associated with sudden cardiac arrest in patients with coronary artery disease. (PMID: 21658281) Aouizerat B.E. … Tseng Z.H. (BMC Cardiovasc Disord 2011) 3 46 65
  4. Common genetic variation and performance on standardized cognitive tests. (PMID: 20125193) Cirulli E.T. … Goldstein D.B. (Eur. J. Hum. Genet. 2010) 3 46 65
  5. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose J.E. … Uhl G.R. (Mol. Med. 2010) 3 46 65

Products for MCTP2 Gene

Sources for MCTP2 Gene

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