Atlas of Genetics and Cytogenetics in Oncology and Haematology

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MCU (mitochondrial calcium uniporter)

Identity

Alias_namesC10orf42
CCDC109A
coiled-coil domain containing 109A
Alias_symbol (synonym)FLJ46135
Other aliasHsMCU
HGNC (Hugo) MCU
LocusID (NCBI) 90550
Atlas_Id 53485
Location 10q22.1  [Link to chromosome band 10q22]
Location_base_pair Starts at 72692131 and ends at 72887694 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)
CFAP70 (10q22.2) / MCU (10q22.1)MCU (10q22.1) / ARHGAP1 (11p11.2)MCU (10q22.1) / JMJD1C (10q21.3)
MCU (10q22.1) / NFIX (19p13.2)MCU 10q22.1 / NFIX 19p13.2

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

 

Other Solid tumors implicated (Data extracted from papers in the Atlas) [ 1 ]
  t(10;19)(q22;p13) MCU/NFIX

External links

Nomenclature
HGNC (Hugo)MCU   23526
Cards
Entrez_Gene (NCBI)MCU  90550  mitochondrial calcium uniporter
AliasesC10orf42; CCDC109A; HsMCU
GeneCards (Weizmann)MCU
Ensembl hg19 (Hinxton)ENSG00000156026 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000156026 [Gene_View]  ENSG00000156026 [Sequence]  chr10:72692131-72887694 [Contig_View]  MCU [Vega]
ICGC DataPortalENSG00000156026
TCGA cBioPortalMCU
AceView (NCBI)MCU
Genatlas (Paris)MCU
WikiGenes90550
SOURCE (Princeton)MCU
Genetics Home Reference (NIH)MCU
Genomic and cartography
GoldenPath hg38 (UCSC)MCU  -     chr10:72692131-72887694 +  10q22.1   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)MCU  -     10q22.1   [Description]    (hg19-Feb_2009)
MCU - 10q22.1 [CytoView hg19]  MCU - 10q22.1 [CytoView hg38]
Mapping of homologs : NCBIMCU [Mapview hg19]  MCU [Mapview hg38]
OMIM614197   
Gene and transcription
Genbank (Entrez)AK025699 AK075439 AK128016 AK301475 AK310455
RefSeq transcript (Entrez)NM_001270679 NM_001270680 NM_138357
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)MCU
Cluster EST : UnigeneHs.591366 [ NCBI ]
CGAP (NCI)Hs.591366
Alternative Splicing GalleryENSG00000156026
Gene ExpressionMCU [ NCBI-GEO ]   MCU [ EBI - ARRAY_EXPRESS ]   MCU [ SEEK ]   MCU [ MEM ]
Gene Expression Viewer (FireBrowse)MCU [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)90550
GTEX Portal (Tissue expression)MCU
Human Protein AtlasENSG00000156026-MCU [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ8NE86   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ8NE86  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ8NE86
Splice isoforms : SwissVarQ8NE86
PhosPhoSitePlusQ8NE86
Domains : Interpro (EBI)Coiled-coil-dom_prot_109_C   
Domain families : Pfam (Sanger)MCU (PF04678)   
Domain families : Pfam (NCBI)pfam04678   
Conserved Domain (NCBI)MCU
DMDM Disease mutations90550
Blocks (Seattle)MCU
PDB (RSDB)4XSJ    4XTB    5BZ6    5KUE    5KUG    5KUI    5KUJ   
PDB Europe4XSJ    4XTB    5BZ6    5KUE    5KUG    5KUI    5KUJ   
PDB (PDBSum)4XSJ    4XTB    5BZ6    5KUE    5KUG    5KUI    5KUJ   
PDB (IMB)4XSJ    4XTB    5BZ6    5KUE    5KUG    5KUI    5KUJ   
Structural Biology KnowledgeBase4XSJ    4XTB    5BZ6    5KUE    5KUG    5KUI    5KUJ   
SCOP (Structural Classification of Proteins)4XSJ    4XTB    5BZ6    5KUE    5KUG    5KUI    5KUJ   
CATH (Classification of proteins structures)4XSJ    4XTB    5BZ6    5KUE    5KUG    5KUI    5KUJ   
SuperfamilyQ8NE86
Human Protein Atlas [tissue]ENSG00000156026-MCU [tissue]
Peptide AtlasQ8NE86
HPRD10696
IPIIPI00171573   IPI00185975   IPI01011042   
Protein Interaction databases
DIP (DOE-UCLA)Q8NE86
IntAct (EBI)Q8NE86
FunCoupENSG00000156026
BioGRIDMCU
STRING (EMBL)MCU
ZODIACMCU
Ontologies - Pathways
QuickGOQ8NE86
Ontology : AmiGOcalcium channel activity  calcium channel activity  calcium channel activity  protein binding  mitochondrion  mitochondrial inner membrane  mitochondrial inner membrane  mitochondrial calcium ion transmembrane transport  mitochondrial calcium ion transmembrane transport  mitochondrial calcium ion transmembrane transport  uniporter activity  uniporter activity  uniporter activity  calcium-mediated signaling  integral component of mitochondrial inner membrane  integral component of mitochondrial inner membrane  positive regulation of insulin secretion  calcium channel complex  calcium channel complex  calcium import into the mitochondrion  calcium import into the mitochondrion  calcium import into the mitochondrion  glucose homeostasis  identical protein binding  protein complex oligomerization  mitochondrial calcium ion homeostasis  positive regulation of mitochondrial calcium ion concentration  positive regulation of mitochondrial calcium ion concentration  uniplex complex  uniplex complex  
Ontology : EGO-EBIcalcium channel activity  calcium channel activity  calcium channel activity  protein binding  mitochondrion  mitochondrial inner membrane  mitochondrial inner membrane  mitochondrial calcium ion transmembrane transport  mitochondrial calcium ion transmembrane transport  mitochondrial calcium ion transmembrane transport  uniporter activity  uniporter activity  uniporter activity  calcium-mediated signaling  integral component of mitochondrial inner membrane  integral component of mitochondrial inner membrane  positive regulation of insulin secretion  calcium channel complex  calcium channel complex  calcium import into the mitochondrion  calcium import into the mitochondrion  calcium import into the mitochondrion  glucose homeostasis  identical protein binding  protein complex oligomerization  mitochondrial calcium ion homeostasis  positive regulation of mitochondrial calcium ion concentration  positive regulation of mitochondrial calcium ion concentration  uniplex complex  uniplex complex  
NDEx NetworkMCU
Atlas of Cancer Signalling NetworkMCU
Wikipedia pathwaysMCU
Orthology - Evolution
OrthoDB90550
GeneTree (enSembl)ENSG00000156026
Phylogenetic Trees/Animal Genes : TreeFamMCU
HOGENOMQ8NE86
Homologs : HomoloGeneMCU
Homology/Alignments : Family Browser (UCSC)MCU
Gene fusions - Rearrangements
Fusion : MitelmanMCU/NFIX [10q22.1/19p13.2]  
Fusion PortalMCU 10q22.1 NFIX 19p13.2 BRCA
Fusion : QuiverMCU
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerMCU [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)MCU
dbVarMCU
ClinVarMCU
1000_GenomesMCU 
Exome Variant ServerMCU
ExAC (Exome Aggregation Consortium)ENSG00000156026
GNOMAD BrowserENSG00000156026
Varsome BrowserMCU
Genetic variants : HAPMAP90550
Genomic Variants (DGV)MCU [DGVbeta]
DECIPHERMCU [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisMCU 
Mutations
ICGC Data PortalMCU 
TCGA Data PortalMCU 
Broad Tumor PortalMCU
OASIS PortalMCU [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICMCU  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDMCU
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch MCU
DgiDB (Drug Gene Interaction Database)MCU
DoCM (Curated mutations)MCU (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)MCU (select a term)
intoGenMCU
Cancer3DMCU(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM614197   
Orphanet
DisGeNETMCU
MedgenMCU
Genetic Testing Registry MCU
NextProtQ8NE86 [Medical]
TSGene90550
GENETestsMCU
Target ValidationMCU
Huge Navigator MCU [HugePedia]
snp3D : Map Gene to Disease90550
BioCentury BCIQMCU
ClinGenMCU
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD90550
Chemical/Pharm GKB GenePA134888841
Clinical trialMCU
Miscellaneous
canSAR (ICR)MCU (select the gene name)
DataMed IndexMCU
Probes
Litterature
PubMed63 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineMCU
EVEXMCU
GoPubMedMCU
iHOPMCU
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Thu Mar 21 15:55:16 CET 2019
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