Human Gene MCTP2 (uc002bti.2) Description and Page Index
  Description: Homo sapiens multiple C2 domains, transmembrane 2 (MCTP2), transcript variant 2, mRNA.
Transcript (Including UTRs)
   Position: hg19 chr15:94,774,801-94,928,789 Size: 153,989 Total Exon Count: 14 Strand: +
Coding Region
   Position: hg19 chr15:94,841,495-94,928,772 Size: 87,278 Coding Exon Count: 13 

Page IndexSequence and LinksUniProtKB CommentsGenetic AssociationsMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsOther NamesModel InformationMethods
Data last updated: 2013-06-15

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr15:94,774,801-94,928,789)mRNA (may differ from genome)Protein (601 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaBioGPS
CGAPEnsemblEntrez GeneExonPrimerGeneCardsH-INV
HGNCLynxMGIneXtProtOMIMPubMed
Stanford SOURCETreefamUniProtKB

-  Comments and Description Text from UniProtKB
  ID: MCTP2_HUMAN
DESCRIPTION: RecName: Full=Multiple C2 and transmembrane domain-containing protein 2;
COFACTOR: Binds calcium via the C2 domains in absence of phospholipids.
SUBCELLULAR LOCATION: Membrane; Multi-pass membrane protein (Potential).
SIMILARITY: Belongs to the MCTP family.
SIMILARITY: Contains 3 C2 domains.
SEQUENCE CAUTION: Sequence=AAH41387.1; Type=Erroneous translation; Note=Wrong choice of CDS; Sequence=BAA91998.1; Type=Erroneous initiation; Note=Translation N-terminally extended;

-  Genetic Association Studies of Complex Diseases and Disorders
  Genetic Association Database (archive): MCTP2
CDC HuGE Published Literature: MCTP2
Positive Disease Associations: Alcoholism , Alkaline Phosphatase , Aorta , Behcet Syndrome , Blood Pressure Determination , Body Composition , Body Mass Index , Body Weight , C-Reactive Protein , Cholesterol, HDL , Cognitive performance , Conduct Disorder , Coronary Artery Disease , Coronary Disease , Death, Sudden, Cardiac , Drug-Induced Liver Injury , drug-induced liver injury (flucloxacillin) , Echocardiography , Hip , Hypertrophy, Left Ventricular , Lipids , Memory , Myocardial Infarction , Triglycerides , von Willebrand Factor
Related Studies:
  1. Alcoholism
    Andrew C Heath et al. Biological psychiatry 2011, A quantitative-trait genome-wide association study of alcoholism risk in the community: findings and implications., Biological psychiatry. [PubMed 21529783]
    We conclude that 1) meta-analyses of consumption data may contribute usefully to gene discovery; 2) translation of human alcoholism GWAS results to drug discovery or clinically useful prediction of risk will be challenging; and 3) through accumulation across studies, GWAS data may become valuable for improved genetic risk differentiation in research in biological psychiatry (e.g., prospective high-risk or resilience studies).
  2. Alkaline Phosphatase
    Yoichiro Kamatani et al. Nature genetics 2010, Genome-wide association study of hematological and biochemical traits in a Japanese population., Nature genetics. [PubMed 20139978]
  3. Aorta
    Christopher J O'Donnell et al. BMC medical genetics 2007, Genome-wide association study for subclinical atherosclerosis in major arterial territories in the NHLBI's Framingham Heart Study., BMC medical genetics. [PubMed 17903303]
    The results from this GWAS generate hypotheses regarding several SNPs that may be associated with SCA phenotypes in multiple arterial beds. Given the number of tests conducted, subsequent independent replication in a staged approach is essential to identify genetic variants that may be implicated in atherosclerosis.
           more ... click here to view the complete list

-  MalaCards Disease Associations
  MalaCards Gene Search: MCTP2
Diseases sorted by gene-association score: mitral atresia (19), chromosome 15q26-qter deletion syndrome* (18)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 11.97 RPKM in Whole Blood
Total median expression: 83.75 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -61.10158-0.387 Picture PostScript Text
3' UTR 0.00170.000 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR000008 - C2_Ca-dep
IPR008973 - C2_Ca/lipid-bd_dom_CaLB
IPR018029 - C2_membr_targeting
IPR013583 - PRibTrfase_C

Pfam Domains:
PF00168 - C2 domain

SCOP Domains:
49562 - C2 domain (Calcium/lipid-binding domain, CaLB)

Protein Data Bank (PDB) 3-D Structure
MuPIT help

2EP6
- NMR MuPIT


ModBase Predicted Comparative 3D Structure on Q6DN12
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
      
      
      

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0005509 calcium ion binding
GO:0005544 calcium-dependent phospholipid binding

Biological Process:
GO:0007275 multicellular organism development
GO:0019722 calcium-mediated signaling

Cellular Component:
GO:0005654 nucleoplasm
GO:0005783 endoplasmic reticulum
GO:0005829 cytosol
GO:0016020 membrane
GO:0016021 integral component of membrane


-  Descriptions from all associated GenBank mRNAs
  AK300325 - Homo sapiens cDNA FLJ57004 complete cds, highly similar to Homo sapiens multiple C2-domains with two transmembrane regions 2 (MCTP2), mRNA.
AK090622 - Homo sapiens cDNA FLJ33303 fis, clone BNGH42002487.
AX746539 - Sequence 64 from Patent EP1308459.
LP895309 - Sequence 173 from Patent EP3253886.
BC041387 - Homo sapiens multiple C2 domains, transmembrane 2, mRNA (cDNA clone MGC:43948 IMAGE:5276211), complete cds.
AY656717 - Homo sapiens MCTP2 mRNA, complete cds.
BC131527 - Homo sapiens multiple C2 domains, transmembrane 2, mRNA (cDNA clone MGC:141804 IMAGE:40035019), complete cds.
AL832717 - Homo sapiens mRNA; cDNA DKFZp313B039 (from clone DKFZp313B039).
AL832048 - Homo sapiens mRNA; cDNA DKFZp313J1810 (from clone DKFZp313J1810).
BC025708 - Homo sapiens multiple C2 domains, transmembrane 2, mRNA (cDNA clone IMAGE:5224558), complete cds.
BC111024 - Homo sapiens multiple C2 domains, transmembrane 2, mRNA (cDNA clone IMAGE:5202964), complete cds.
AK002037 - Homo sapiens cDNA FLJ11175 fis, clone PLACE1007375, weakly similar to PHORBOL ESTER/DIACYLGLYCEROL-BINDING PROTEIN UNC-13.

-  Other Names for This Gene
  Alternate Gene Symbols: A2RRC2, AX746539, C6G483, C6G484, MCTP2_HUMAN, NM_001159643, NP_001153115, Q49AB0, Q6DN12, Q8TAX2, Q9NUS2, Q9NUW7
UCSC ID: uc002bti.2
RefSeq Accession: NM_001159643
Protein: Q6DN12 (aka MCTP2_HUMAN)

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: AX746539.1
exon count: 14CDS single in 3' UTR: no RNA size: 1977
ORF size: 1806CDS single in intron: no Alignment % ID: 99.95
txCdsPredict score: 3805.00frame shift in genome: no % Coverage: 100.00
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 35# strange splices: 0
Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.