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Aliases for MCTP2 Gene

Aliases for MCTP2 Gene

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

External Ids for MCTP2 Gene

Previous GeneCards Identifiers for MCTP2 Gene

  • GC15P092575
  • GC15P092642
  • GC15P094774
  • GC15P070976
  • GC15P094374
  • GC15P094377
  • GC15P094754
  • GC15P094765
  • GC15P095000
  • GC15P095246
  • GC15P095484

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. Gene Ontology (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.

Additional gene information for MCTP2 Gene

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

Genomics for MCTP2 Gene

GeneHancer (GH) Regulatory Elements for MCTP2 Gene

Promoters and enhancers for MCTP2 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH15I094229 Promoter/Enhancer 1.6 Ensembl ENCODE dbSUPER 550.8 +0.5 471 5.8 PKNOX1 SMAD1 ZNF76 IRF4 ZNF48 ZNF335 ZNF143 ZNF207 ATF7 IKZF2 MCTP2 RPL26P5
GH15I094296 Promoter/Enhancer 1.1 EPDnew Ensembl ENCODE dbSUPER 562.8 +66.1 66126 2.2 MCTP2 RPL26P5 GC15P095995
GH15I094355 Promoter 0.5 EPDnew 550.1 +124.3 124324 0.1 MCTP2 RPL26P5 GC15P095995
GH15I094286 Enhancer 1.4 FANTOM5 Ensembl ENCODE dbSUPER 19.9 +57.2 57217 5.5 HDGF CTCF MAX EBF1 BMI1 RELA POLR2A ZNF207 ZNF143 ATF7 MCTP2 RPL26P5 GC15P095995
GH15I094305 Enhancer 1.5 FANTOM5 Ensembl ENCODE dbSUPER 12.6 +75.3 75338 2.1 SMAD1 BMI1 BATF KLF5 IRF4 ATF7 ETV6 BCLAF1 IKZF2 RUNX3 MCTP2 RPL26P5 GC15P095995
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around MCTP2 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the MCTP2 gene promoter:

Genomic Locations for MCTP2 Gene

Genomic Locations for MCTP2 Gene
chr15:94,231,538-94,483,952
(GRCh38/hg38)
Size:
252,415 bases
Orientation:
Plus strand
chr15:94,774,767-95,027,181
(GRCh37/hg19)

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

No data available for DME Specific Peptides for MCTP2 Gene

Domains & Families for MCTP2 Gene

Gene Families for MCTP2 Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted intracellular proteins
  • Predicted membrane proteins

Protein Domains for MCTP2 Gene

Suggested Antigen Peptide Sequences for MCTP2 Gene

Graphical View of Domain Structure for InterPro Entry

Q6DN12

UniProtKB/Swiss-Prot:

MCTP2_HUMAN :
  • Belongs to the MCTP family.
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.

Phenotypes From GWAS Catalog for MCTP2 Gene

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

miRNA for MCTP2 Gene

miRTarBase miRNAs that target MCTP2

Clone 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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for MCTP2 gene
Compartment Confidence
nucleus 5
cytosol 5
endoplasmic reticulum 4
plasma membrane 2
peroxisome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (4)
  • Nucleoplasm (4)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for MCTP2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005654 nucleoplasm IDA --
GO:0005783 endoplasmic reticulum IBA --
GO:0005829 cytosol IDA --
GO:0016020 membrane IEA,HDA 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 4 interactants - click image to see details)
http://version10.5.string-db.org/api/image/networkList?limit=0&targetmode=proteins&caller_identity=gene_cards&network_flavor=evidence&identifiers=9606.ENSP00000350377%0d%0a9606.ENSP00000261313%0d%0a9606.ENSP00000308275%0d%0a9606.ENSP00000256404%0d%0a9606.ENSP00000362372%0d%0a
Selected Interacting proteins: Q6DN12-MCTP2_HUMAN ENSP00000350377 for MCTP2 Gene via IID STRING

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 Approved 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:

Clone 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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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, 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

Evidence on tissue expression from TISSUES for MCTP2 Gene

  • Lung(4.2)
  • Pancreas(4.2)
  • Nervous system(4.2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for MCTP2 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • integumentary
  • nervous
  • reproductive
  • skeletal muscle
  • skeleton
  • urinary
Regions:
Head and neck:
  • brain
  • cheek
  • chin
  • cranial nerve
  • ear
  • eye
  • eyelid
  • face
  • head
  • jaw
  • mandible
  • maxilla
  • mouth
  • nose
  • outer ear
  • skull
Thorax:
  • heart
  • heart valve
Pelvis:
  • penis
  • testicle
  • urethra
Limb:
  • digit
  • finger
  • foot
  • hand
  • lower limb
  • toe
  • upper limb
General:
  • peripheral nervous system
  • skin
genes like me logo Genes that share expression patterns with MCTP2: view

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
chimpanzee
(Pan troglodytes)
Mammalia MCTP2 33 34
  • 98.37 (n)
dog
(Canis familiaris)
Mammalia MCTP2 33 34
  • 91.31 (n)
cow
(Bos Taurus)
Mammalia MCTP2 33 34
  • 89.02 (n)
oppossum
(Monodelphis domestica)
Mammalia MCTP2 34
  • 87 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Mctp2 33 16 34
  • 85.88 (n)
rat
(Rattus norvegicus)
Mammalia Mctp2 33
  • 85.21 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia MCTP2 34
  • 82 (a)
OneToOne
chicken
(Gallus gallus)
Aves LOC426324 33
  • 72.44 (n)
MCTP2 34
  • 70 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia MCTP2 34
  • 68 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia mctp2 33
  • 66.82 (n)
zebrafish
(Danio rerio)
Actinopterygii mctp2a 33 34
  • 58.86 (n)
mctp2b 34
  • 54 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta Mctp 34
  • 32 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea D2092.1 34
  • 32 (a)
OneToMany
rice
(Oryza sativa)
Liliopsida Os04g0691800 33
  • 37.31 (n)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.9926 34
  • 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 Variation AA Info Type
rs1000002962 -- 94,353,834(+) T/G genic_upstream_transcript_variant, intron_variant, upstream_transcript_variant
rs1000016296 -- 94,314,858(+) C/T genic_upstream_transcript_variant, intron_variant
rs1000048926 -- 94,241,155(+) T/A genic_upstream_transcript_variant, intron_variant
rs1000055947 -- 94,353,056(+) TCTATCT/TCT genic_upstream_transcript_variant, intron_variant, upstream_transcript_variant
rs1000066548 -- 94,317,876(+) T/C genic_upstream_transcript_variant, intron_variant

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)

Additional Variant Information for MCTP2 Gene

Human Gene Mutation Database (HGMD)
MCTP2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
MCTP2

SNP Genotyping and Copy Number Assay Products

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: HGMD, Orphanet, and GeneCards

Disorder Aliases PubMed IDs
mitral atresia
chromosome 15q26-qter deletion syndrome
  • drayer 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}.

Additional Disease Information for MCTP2

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
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 OH … Südhof TC (The Journal of biological chemistry 2005) 2 3 4 58
  2. MCTP2 is a dosage-sensitive gene required for cardiac outflow tract development. (PMID: 23773997) Lalani SR … Belmont JW (Human molecular genetics 2013) 3 4 58
  3. GWAS for discovery and replication of genetic loci associated with sudden cardiac arrest in patients with coronary artery disease. (PMID: 21658281) Aouizerat BE … Tseng ZH (BMC cardiovascular disorders 2011) 3 44 58
  4. Common genetic variation and performance on standardized cognitive tests. (PMID: 20125193) Cirulli ET … Goldstein DB (European journal of human genetics : EJHG 2010) 3 44 58
  5. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 44 58

Products for MCTP2 Gene

Sources for MCTP2 Gene

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