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MCTP2 (multiple C2 and transmembrane domain containing 2)

Identity

Alias_namesmultiple C2 domains, transmembrane 2
Alias_symbol (synonym)FLJ11175
FLJ33303
Other alias-
HGNC (Hugo) MCTP2
LocusID (NCBI) 55784
Atlas_Id 68856
Location 15q26.2  [Link to chromosome band 15q26]
Location_base_pair Starts at 94298201 and ends at 94483952 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2017)
Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)
MCTP2 (15q26.2) / CRYAB (11q23.1)

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 


External links

Nomenclature
HGNC (Hugo)MCTP2   25636
Cards
Entrez_Gene (NCBI)MCTP2  55784  multiple C2 and transmembrane domain containing 2
Aliases
GeneCards (Weizmann)MCTP2
Ensembl hg19 (Hinxton)ENSG00000140563 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000140563 [Gene_View]  chr15:94298201-94483952 [Contig_View]  MCTP2 [Vega]
ICGC DataPortalENSG00000140563
TCGA cBioPortalMCTP2
AceView (NCBI)MCTP2
Genatlas (Paris)MCTP2
WikiGenes55784
SOURCE (Princeton)MCTP2
Genetics Home Reference (NIH)MCTP2
Genomic and cartography
GoldenPath hg38 (UCSC)MCTP2  -     chr15:94298201-94483952 +  15q26.2   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)MCTP2  -     15q26.2   [Description]    (hg19-Feb_2009)
EnsemblMCTP2 - 15q26.2 [CytoView hg19]  MCTP2 - 15q26.2 [CytoView hg38]
Mapping of homologs : NCBIMCTP2 [Mapview hg19]  MCTP2 [Mapview hg38]
OMIM616297   
Gene and transcription
Genbank (Entrez)AK001953 AK002037 AK026984 AK090622 AK300325
RefSeq transcript (Entrez)NM_001159643 NM_001159644 NM_018349
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)MCTP2
Cluster EST : UnigeneHs.33368 [ NCBI ]
CGAP (NCI)Hs.33368
Alternative Splicing GalleryENSG00000140563
Gene ExpressionMCTP2 [ NCBI-GEO ]   MCTP2 [ EBI - ARRAY_EXPRESS ]   MCTP2 [ SEEK ]   MCTP2 [ MEM ]
Gene Expression Viewer (FireBrowse)MCTP2 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)55784
GTEX Portal (Tissue expression)MCTP2
Human Protein AtlasENSG00000140563-MCTP2 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ6DN12   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ6DN12  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ6DN12
Splice isoforms : SwissVarQ6DN12
PhosPhoSitePlusQ6DN12
Domaine pattern : Prosite (Expaxy)C2 (PS50004)   
Domains : Interpro (EBI)C2_dom    PRibTrfase_C   
Domain families : Pfam (Sanger)C2 (PF00168)    PRT_C (PF08372)   
Domain families : Pfam (NCBI)pfam00168    pfam08372   
Domain families : Smart (EMBL)C2 (SM00239)  
Conserved Domain (NCBI)MCTP2
DMDM Disease mutations55784
Blocks (Seattle)MCTP2
PDB (SRS)2EP6   
PDB (PDBSum)2EP6   
PDB (IMB)2EP6   
PDB (RSDB)2EP6   
Structural Biology KnowledgeBase2EP6   
SCOP (Structural Classification of Proteins)2EP6   
CATH (Classification of proteins structures)2EP6   
SuperfamilyQ6DN12
Human Protein Atlas [tissue]ENSG00000140563-MCTP2 [tissue]
Peptide AtlasQ6DN12
HPRD07738
IPIIPI00457110   IPI00853548   IPI00829809   IPI00152146   IPI00956663   IPI01013148   IPI01025606   
Protein Interaction databases
DIP (DOE-UCLA)Q6DN12
IntAct (EBI)Q6DN12
FunCoupENSG00000140563
BioGRIDMCTP2
STRING (EMBL)MCTP2
ZODIACMCTP2
Ontologies - Pathways
QuickGOQ6DN12
Ontology : AmiGOcalcium ion binding  calcium-dependent phospholipid binding  nucleoplasm  endoplasmic reticulum  cytosol  multicellular organism development  membrane  integral component of membrane  calcium-mediated signaling  
Ontology : EGO-EBIcalcium ion binding  calcium-dependent phospholipid binding  nucleoplasm  endoplasmic reticulum  cytosol  multicellular organism development  membrane  integral component of membrane  calcium-mediated signaling  
NDEx NetworkMCTP2
Atlas of Cancer Signalling NetworkMCTP2
Wikipedia pathwaysMCTP2
Orthology - Evolution
OrthoDB55784
GeneTree (enSembl)ENSG00000140563
Phylogenetic Trees/Animal Genes : TreeFamMCTP2
HOVERGENQ6DN12
HOGENOMQ6DN12
Homologs : HomoloGeneMCTP2
Homology/Alignments : Family Browser (UCSC)MCTP2
Gene fusions - Rearrangements
Tumor Fusion PortalMCTP2
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerMCTP2 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)MCTP2
dbVarMCTP2
ClinVarMCTP2
1000_GenomesMCTP2 
Exome Variant ServerMCTP2
ExAC (Exome Aggregation Consortium)ENSG00000140563
GNOMAD BrowserENSG00000140563
Genetic variants : HAPMAP55784
Genomic Variants (DGV)MCTP2 [DGVbeta]
DECIPHERMCTP2 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisMCTP2 
Mutations
ICGC Data PortalMCTP2 
TCGA Data PortalMCTP2 
Broad Tumor PortalMCTP2
OASIS PortalMCTP2 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICMCTP2  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDMCTP2
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch MCTP2
DgiDB (Drug Gene Interaction Database)MCTP2
DoCM (Curated mutations)MCTP2 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)MCTP2 (select a term)
intoGenMCTP2
Cancer3DMCTP2(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM616297   
Orphanet1737   
DisGeNETMCTP2
MedgenMCTP2
Genetic Testing Registry MCTP2
NextProtQ6DN12 [Medical]
TSGene55784
GENETestsMCTP2
Target ValidationMCTP2
Huge Navigator MCTP2 [HugePedia]
snp3D : Map Gene to Disease55784
BioCentury BCIQMCTP2
ClinGenMCTP2
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD55784
Chemical/Pharm GKB GenePA142671473
Clinical trialMCTP2
Miscellaneous
canSAR (ICR)MCTP2 (select the gene name)
Probes
Litterature
PubMed20 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineMCTP2
EVEXMCTP2
GoPubMedMCTP2
iHOPMCTP2
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Tue Nov 21 13:31:40 CET 2017

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