Aliases for MCU Gene
Aliases for MCU Gene
External Ids for MCU Gene
- HGNC: 23526
- Entrez Gene: 90550
- Ensembl: ENSG00000156026
- OMIM: 614197
- UniProtKB: Q8NE86
Previous HGNC Symbols for MCU Gene
- C10orf42
- CCDC109A
Previous GeneCards Identifiers for MCU Gene
- GC10P074452
Summaries for MCU Gene
-
This gene encodes a calcium transporter that localizes to the mitochondrial inner membrane. The encoded protein interacts with mitochondrial calcium uptake 1. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2012]
GeneCards Summary for MCU Gene
MCU (Mitochondrial Calcium Uniporter) is a Protein Coding gene. Diseases associated with MCU include Ischemia and Urethral Calculus. Among its related pathways are Calcium signaling pathway and Toll-like receptor signaling pathway. Gene Ontology (GO) annotations related to this gene include identical protein binding and uniporter activity. An important paralog of this gene is MCUB.
UniProtKB/Swiss-Prot for MCU Gene
-
Mitochondrial inner membrane calcium uniporter that mediates calcium uptake into mitochondria (PubMed:21685888, PubMed:21685886, PubMed:23101630, PubMed:22904319, PubMed:23178883, PubMed:22829870, PubMed:22822213, PubMed:24332854, PubMed:23755363, PubMed:26341627). Constitutes the pore-forming and calcium-conducting subunit of the uniporter complex (uniplex) (PubMed:23755363). Activity is regulated by MICU1 and MICU2. At low Ca(2+) levels MCU activity is down-regulated by MICU1 and MICU2; at higher Ca(2+) levels MICU1 increases MCU activity (PubMed:24560927, PubMed:26903221). Mitochondrial calcium homeostasis plays key roles in cellular physiology and regulates cell bioenergetics, cytoplasmic calcium signals and activation of cell death pathways. Involved in buffering the amplitude of systolic calcium rises in cardiomyocytes (PubMed:22822213). While dispensable for baseline homeostatic cardiac function, acts as a key regulator of short-term mitochondrial calcium loading underlying a fight-or-flight response during acute stress: acts by mediating a rapid increase of mitochondrial calcium in pacemaker cells (PubMed:25603276). participates in mitochondrial permeability transition during ischemia-reperfusion injury (By similarity). Regulates glucose-dependent insulin secretion in pancreatic beta-cells by regulating mitochondrial calcium uptake (PubMed:22904319, PubMed:22829870). Mitochondrial calcium uptake in skeletal muscle cells is involved in muscle size in adults (By similarity). Regulates synaptic vesicle endocytosis kinetics in central nerve terminal (By similarity). Involved in antigen processing and presentation (By similarity).
No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for MCU Gene
Genomics for MCU Gene
GeneHancer (GH) Regulatory Elements for MCU Gene
Promoters and enhancers for MCU Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data dump
GeneHancers around MCU on UCSC Golden Path with GeneCards custom track
Regulatory Element Products
Genomic Locations for MCU Gene
Genomic Locations for MCU Gene
- chr10:72,692,131-72,887,694
- (GRCh38/hg38)
- Size:
- 195,564 bases
- Orientation:
- Plus strand
- chr10:74,451,889-74,647,452
- (GRCh37/hg19)
Genomic View for MCU Gene
Genes around MCU on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 10q22.1 by Ensembl
- 10q22.1 by Entrez Gene
- 10q22.1 by HGNC
MCU Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene Density
RefSeq DNA sequence for MCU Gene
Proteins for MCU Gene
-
Protein details for MCU Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- Q8NE86-MCU_HUMAN
- Recommended name:
- Calcium uniporter protein, mitochondrial
- Protein Accession:
- Q8NE86
- B2RDF3
- B3KXV7
- Q96FL3
Protein attributes for MCU Gene
- Size:
- 351 amino acids
- Molecular mass:
- 39867 Da
- Quaternary structure:
-
- Component of the uniplex complex, composed of MCU, MCUB, MICU1, MICU2 and EMRE/SMDT1 (PubMed:24231807). Homooligomer (PubMed:21685886, PubMed:26341627). Forms a pentamer (By similarity). Heterooligomer with CCDC109B/MCUB; this inhibits channel activity (By similarity). Interacts with MICU1; MICU1 acts as an essential regulator for MCU (PubMed:21685886, PubMed:23101630, PubMed:23178883, PubMed:24332854, PubMed:26341627). Interacts with MCUR1 (PubMed:23178883, PubMed:26341627, PubMed:27184846, PubMed:26976564). Interacts with CCDC90B (PubMed:27184846). Interactions with MICU1 and MCUR1 are mutually exclusive (PubMed:23178883). Interacts with MICU2 (PubMed:26341627). Interacts with SLC25A23 (PubMed:24430870).
Three dimensional structures from OCA and Proteopedia for MCU Gene
Protein Expression for MCU Gene
Post-translational modifications for MCU Gene
- Phosphorylation by CaMK2 in heart leads to increased MCU current (PubMed:23051746, PubMed:25254481). The regulation of MCU by CaMK2 is however subject to discussion: another group was unable to reproduce these results (PubMed:25254480). Phosphorylated on tyrosines by PTK2B/PYK2, promoting oligomerization (PubMed:24800979).
Other Protein References for MCU Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- Cell Signaling Technology (CST) Antibodies for MCU (MCU)
- Novus Biologicals Antibodies for MCU
- Invitrogen Antibodies for MCU
- Search GeneTex for Antibodies for MCU
Protein Products
-
OriGene Purified Proteins for MCU
- Search Origene for MassSpec and Protein Over-expression Lysates for MCU
- Origene Custom Protein Services for MCU
- Search GeneTex for Proteins for MCU
Assay Products
No data available for DME Specific Peptides for MCU Gene
Domains & Families for MCU Gene
Gene Families for MCU Gene
- Human Protein Atlas (HPA):
-
- Predicted intracellular proteins
- Predicted membrane proteins
Protein Domains for MCU Gene
- InterPro:
- ProtoNet:
Suggested Antigen Peptide Sequences for MCU Gene
- GenScript: Design optimal peptide antigens:
Graphical View of Domain Structure for InterPro Entry
Q8NE86UniProtKB/Swiss-Prot:
MCU_HUMAN :- The N-terminal MCU domain is required for efficient Ca(2+) uptake and for interaction with MCUR1. It is not required for targeting to the mitochondria, oligomerization, interaction with MICU1 and MICU2, or assembly of the uniplex complex.
- Belongs to the MCU (TC 1.A.77) family.
- Domain:
-
- The N-terminal MCU domain is required for efficient Ca(2+) uptake and for interaction with MCUR1. It is not required for targeting to the mitochondria, oligomerization, interaction with MICU1 and MICU2, or assembly of the uniplex complex.
- Forms a well-packed pentamer with an overall cylindrical shape. The inner core of the pentamer is formed with the second transmembrane region and the second coiled-coil region: while the transmembrane regions pack into a five-helix bundle having a largely polar pore across the membrane, the coiled-coil outside the membrane forms a pentamer with a hydrophobic core. The inner core is wrapped by the first transmembrane region through contacts between the first and the second transmembrane regions. The second transmembrane is followed by the inner juxtamembrane region (IJMH) that orients at a wide angle relative to the second transmembrane. The two core domains are held together on the periphery by the outer juxtamembrane helix (OJMH).
- The critical DXXE motif connecting the transmembrane regions forms a pentameric barrel that constitutes the mouth of the pore. Inside the barrel, two acidic residues are in position to form two carboxylate rings. In absence of SMDT1/EMRE regulator, the calcium ions cannot exit the channel, suggesting that SMDT1/EMRE-binding induces conformational rearrangements to allow calcium to exit.
- Family:
-
- Belongs to the MCU (TC 1.A.77) family.
Function for MCU Gene
Molecular function for MCU Gene
- UniProtKB/Swiss-Prot EnzymeRegulation:
- Inhibited by ruthenium red or its derivative Ru360.
- UniProtKB/Swiss-Prot Function:
- Mitochondrial inner membrane calcium uniporter that mediates calcium uptake into mitochondria (PubMed:21685888, PubMed:21685886, PubMed:23101630, PubMed:22904319, PubMed:23178883, PubMed:22829870, PubMed:22822213, PubMed:24332854, PubMed:23755363, PubMed:26341627). Constitutes the pore-forming and calcium-conducting subunit of the uniporter complex (uniplex) (PubMed:23755363). Activity is regulated by MICU1 and MICU2. At low Ca(2+) levels MCU activity is down-regulated by MICU1 and MICU2; at higher Ca(2+) levels MICU1 increases MCU activity (PubMed:24560927, PubMed:26903221). Mitochondrial calcium homeostasis plays key roles in cellular physiology and regulates cell bioenergetics, cytoplasmic calcium signals and activation of cell death pathways. Involved in buffering the amplitude of systolic calcium rises in cardiomyocytes (PubMed:22822213). While dispensable for baseline homeostatic cardiac function, acts as a key regulator of short-term mitochondrial calcium loading underlying a fight-or-flight response during acute stress: acts by mediating a rapid increase of mitochondrial calcium in pacemaker cells (PubMed:25603276). participates in mitochondrial permeability transition during ischemia-reperfusion injury (By similarity). Regulates glucose-dependent insulin secretion in pancreatic beta-cells by regulating mitochondrial calcium uptake (PubMed:22904319, PubMed:22829870). Mitochondrial calcium uptake in skeletal muscle cells is involved in muscle size in adults (By similarity). Regulates synaptic vesicle endocytosis kinetics in central nerve terminal (By similarity). Involved in antigen processing and presentation (By similarity).
- UniProtKB/Swiss-Prot Induction:
- MCU transcripts are down-regulated by microRNA miR-25 (PubMed:23246404). Down-regulation by miR-25 may protect cardiomyocytes against oxidative damage in cardiomyocytes (PubMed:25764156).
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005262 | calcium channel activity | IMP | 23755363 |
| GO:0005515 | protein binding | IPI | 21685886 |
| GO:0015292 | uniporter activity | IMP | 23755363 |
| GO:0042802 | identical protein binding | IEA | -- |
Phenotypes for MCU Gene
- MGI mutant phenotypes for MCU:
- inferred from 3 alleles
- GenomeRNAi human phenotypes for MCU:
Animal Models for MCU Gene
- MGI Knock Outs for MCU:
-
- Mcu tm1b(EUCOMM)Hmgu
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
-
ViGene Biosciences lentiviral particle packaged cDNA for MCU gene
-
ViGene Biosciences ready-to-package AAV shRNAs for MCU gene
- Search ViGene Biosciences for MCU
CRISPR Products
-
OriGene CRISPR knockouts for MCU
- genomics-online: gRNA clones - Search results for 87 available MCU gene related products
- Overview of 87 available MCU gene related products
- Applied Biological Materials CRISPR for MCU
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for MCU
- GenScript: Design CRISPR guide RNA sequences for MCU
miRNA for MCU Gene
- miRTarBase miRNAs that target MCU
-
- hsa-mir-16-5p (MIRT005270)
- hsa-mir-10a-5p (MIRT047735)
- hsa-mir-23a-3p (MIRT050443)
- hsa-mir-629-3p (MIRT656377)
- hsa-mir-3977 (MIRT656378)
- hsa-mir-519e-5p (MIRT656379)
- hsa-mir-515-5p (MIRT656380)
- hsa-mir-6749-3p (MIRT656381)
- hsa-mir-623 (MIRT656382)
- hsa-mir-3156-3p (MIRT656383)
- hsa-mir-1260b (MIRT656384)
- hsa-mir-1260a (MIRT656385)
- hsa-mir-188-3p (MIRT656386)
- hsa-mir-6852-3p (MIRT656387)
- hsa-mir-3909 (MIRT656388)
- hsa-mir-7162-5p (MIRT656389)
- hsa-mir-516b-3p (MIRT656390)
- hsa-mir-516a-3p (MIRT656391)
- hsa-mir-2115-5p (MIRT656392)
- hsa-mir-4685-3p (MIRT656393)
- hsa-mir-4287 (MIRT656394)
- hsa-mir-4469 (MIRT656395)
- hsa-mir-136-5p (MIRT656396)
- hsa-mir-6780b-3p (MIRT656397)
- hsa-mir-4780 (MIRT656398)
- hsa-mir-4667-3p (MIRT656399)
- hsa-mir-1470 (MIRT656400)
- hsa-mir-4716-5p (MIRT656401)
- hsa-mir-362-3p (MIRT656402)
- hsa-mir-329-3p (MIRT656403)
- hsa-mir-1178-5p (MIRT735865)
- hsa-mir-139-3p (MIRT737547)
- hsa-mir-25-5p (MIRT739383)
- hsa-mir-4795-5p (MIRT748964)
- hsa-mir-658 (MIRT753514)
- hsa-mir-873-5p (MIRT760313)
miRNA Products
- Search ViGene Biosciences for MCU
Inhibitory RNA Products
- Origene RNAi, sirna, and shrna products in human, mouse, rat for MCU
- Browse OriGene Inhibitory RNA Products For MCU
- genomics-online: shRNA clones - Search results for 87 available MCU gene related products
- Overview of 87 available MCU gene related products
-
ViGene Biosciences ready-to-package AAV shRNAs for MCU gene
Clone Products
- Sino Biological Human cDNA Clone for MCU
- Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat
- Addgene plasmids for MCU
- Applied Biological Materials Clones for MCU
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
Cell Line Products
-
Horizon Cell Lines for MCU
-
ViGene Biosciences adenoviral particle packaged cDNA for MCU gene
-
ViGene Biosciences lentiviral particle packaged cDNA for MCU gene
-
ViGene Biosciences ready-to-package AAV shRNAs for MCU gene
No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for MCU Gene
Localization for MCU Gene
Subcellular locations from UniProtKB/Swiss-Prot for MCU Gene
- Mitochondrion inner membrane; Multi-pass membrane protein.
| Compartment | Confidence |
|---|---|
| mitochondrion | 5 |
| plasma membrane | 2 |
| endoplasmic reticulum | 2 |
| cytosol | 2 |
| extracellular | 1 |
| peroxisome | 1 |
| nucleus | 1 |
| golgi apparatus | 1 |
- Mitochondria (3)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005739 | mitochondrion | IEA,IDA | -- |
| GO:0005743 | mitochondrial inner membrane | TAS | -- |
| GO:0016020 | membrane | IEA | -- |
| GO:0016021 | integral component of membrane | IEA | -- |
| GO:0031305 | integral component of mitochondrial inner membrane | IDA | 23755363 |
Pathways & Interactions for MCU Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Calcium signaling pathway | ||
| 2 | Cellular senescence (KEGG) | ||
| 3 | Toll-like receptor signaling pathway | ||
| 4 | Ca, cAMP and Lipid Signaling | ||
Pathways by source for MCU Gene
1 Cell Signaling Technology pathway for MCU Gene
3 KEGG pathways for MCU Gene
Interacting Proteins for MCU Gene
Selected Interacting proteins:
ENSP00000362144
Q8NE86-MCU_HUMAN
for MCU Gene via
STRING
UniProtKB
IID
MINT
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0006810 | transport | IEA | -- |
| GO:0006811 | ion transport | IEA | -- |
| GO:0006816 | calcium ion transport | IEA | -- |
| GO:0006851 | mitochondrial calcium ion transmembrane transport | IMP,TAS | -- |
| GO:0019722 | calcium-mediated signaling | IDA | 21685886 |
No data available for SIGNOR curated interactions for MCU Gene
Transcripts for MCU Gene
mRNA/cDNA for MCU Gene
- (4) REFSEQ mRNAs :
- (10) Additional mRNA sequences :
- (138) Selected AceView cDNA sequences:
- (11) Ensembl transcripts including schematic representations, and UCSC links where relevant :
Unigene Clusters for MCU Gene
- Mitochondrial calcium uniporter:
- Representative Sequences:
CRISPR Products
-
OriGene CRISPR knockouts for MCU
- genomics-online: gRNA clones - Search results for 87 available MCU gene related products
- Overview of 87 available MCU gene related products
- Applied Biological Materials CRISPR for MCU
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for MCU
- GenScript: Design CRISPR guide RNA sequences for MCU
miRNA Products
- Search ViGene Biosciences for MCU
Inhibitory RNA Products
- Origene RNAi, sirna, and shrna products in human, mouse, rat for MCU
- Browse OriGene Inhibitory RNA Products For MCU
- genomics-online: shRNA clones - Search results for 87 available MCU gene related products
- Overview of 87 available MCU gene related products
-
ViGene Biosciences ready-to-package AAV shRNAs for MCU gene
Clone Products
- Sino Biological Human cDNA Clone for MCU
- Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat
- Addgene plasmids for MCU
- Applied Biological Materials Clones for MCU
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
| ExUns: | 1 | ^ | 2 | ^ | 3 | ^ | 4 | ^ | 5 | ^ | 6 | ^ | 7a | · | 7b | ^ | 8 | ^ | 9a | · | 9b | ^ | 10 | ^ | 11a | · | 11b | · | 11c | ^ | 12 | ^ | 13a | · | 13b | ^ | 14 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SP1: | - | - | - | - | - | - | - | - | - | - | |||||||||||||||||||||||||||
| SP2: | - | - | - | - | - | - | - | - | - | ||||||||||||||||||||||||||||
| SP3: | - | - | - | - | - | - | - | - | |||||||||||||||||||||||||||||
| SP4: | - | - | |||||||||||||||||||||||||||||||||||
| SP5: | |||||||||||||||||||||||||||||||||||||
| SP6: | - | - | |||||||||||||||||||||||||||||||||||
| SP7: | - | - |
Expression for MCU Gene
mRNA differential expression in normal tissues according to GTEx for MCU Gene
This gene is overexpressed in Muscle - Skeletal (x4.4).
This gene is overexpressed in Nasal epithelium (53.8).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for MCU Gene
- Elite partner
NURSA nuclear receptor signaling pathways regulating expression of MCU Gene:
MCUSOURCE GeneReport for Unigene cluster for MCU Gene:
Hs.591366Evidence on tissue expression from TISSUES for MCU Gene
- Eye(4.1)
- Nervous system(3.2)
- Muscle(2.7)
- Heart(2.6)
- Kidney(2.1)
Primer Products
-
OriGene qPCR primer pairs for MCU
-
OriGene qPCR primer pairs and template standards for MCU
No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for MCU Gene
Orthologs for MCU Gene
This gene was present in the common ancestor of animals.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | MCU 33 34 |
|
||
| cow (Bos Taurus) |
Mammalia | MCU 33 34 |
|
||
| dog (Canis familiaris) |
Mammalia | MCU 33 34 |
|
||
| oppossum (Monodelphis domestica) |
Mammalia | MCU 34 |
|
OneToOne | |
| rat (Rattus norvegicus) |
Mammalia | Mcu 33 |
|
||
| mouse (Mus musculus) |
Mammalia | Mcu 33 16 34 |
|
||
| platypus (Ornithorhynchus anatinus) |
Mammalia | MCU 34 |
|
OneToOne | |
| chicken (Gallus gallus) |
Aves | MCU 33 34 |
|
||
| lizard (Anolis carolinensis) |
Reptilia | MCU 34 |
|
OneToOne | |
| tropical clawed frog (Silurana tropicalis) |
Amphibia | mcu 33 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | mcu 33 34 |
|
||
| African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP006330 33 |
|
||
| fruit fly (Drosophila melanogaster) |
Insecta | CG18769 33 34 |
|
||
| worm (Caenorhabditis elegans) |
Secernentea | mcu-1 33 34 |
|
||
| sea squirt (Ciona savignyi) |
Ascidiacea | -- 34 |
|
OneToMany |
- Species where no ortholog for MCU was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Ashbya gossypii)
- Actinobacteria (Mycobacterium tuberculosis)
- African clawed frog (Xenopus laevis)
- 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 (Oryza sativa)
- 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)
Paralogs for MCU Gene
(1) SIMAP similar genes for MCU Gene using alignment to 6 proteins:
Variants for MCU Gene
| SNP ID | Clin | Chr 10 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| rs1000002936 | -- | 72,825,026(+) | G/A | intron_variant | |
| rs1000031837 | -- | 72,823,054(+) | C/T | intron_variant | |
| rs1000047285 | -- | 72,734,011(+) | T/C | intron_variant | |
| rs1000082840 | -- | 72,779,052(+) | C/G | intron_variant | |
| rs1000083818 | -- | 72,885,888(+) | A/T | 3_prime_UTR_variant, non_coding_transcript_variant |
| Variant ID | Type | Subtype | PubMed ID |
|---|---|---|---|
| esv2759767 | CNV | gain | 17122850 |
| esv3623805 | CNV | loss | 21293372 |
| nsv1144502 | CNV | deletion | 24896259 |
| nsv7121 | CNV | insertion | 18451855 |
Residual Variation Intolerance Score:
40.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
1.35;
26.79% of all genes are more intolerant (likely to be disease-causing)
Additional Variant Information for MCU Gene
- SNPedia medical, phenotypic, and genealogical associations of SNPs for
- MCU
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for MCU Gene
Disorders for MCU Gene
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| ischemia |
|
|
| urethral calculus |
|
|
| acute cystitis |
|
|
| urethral diverticulum |
|
|
| bladder disease |
|
|
Search MCU in MalaCards
View complete list of genes associated with diseases
Additional Disease Information for MCU
No data available for UniProtKB/Swiss-Prot and Genatlas for MCU Gene
Publications for MCU Gene
- Integrative genomics identifies MCU as an essential component of the mitochondrial calcium uniporter. (PMID: 21685886) Baughman JM … Mootha VK (Nature 2011) 2 3 4 58
- A forty-kilodalton protein of the inner membrane is the mitochondrial calcium uniporter. (PMID: 21685888) De Stefani D … Rizzuto R (Nature 2011) 2 3 4 58
- Dual functions of a small regulatory subunit in the mitochondrial calcium uniporter complex. (PMID: 27099988) Tsai MF … Miller C (eLife 2016) 3 4 58
- MCUR1 Is a Scaffold Factor for the MCU Complex Function and Promotes Mitochondrial Bioenergetics. (PMID: 27184846) Tomar D … Madesh M (Cell reports 2016) 3 4 58
- Structure and function of the N-terminal domain of the human mitochondrial calcium uniporter. (PMID: 26341627) Lee Y … Eom SH (EMBO reports 2015) 3 4 58
Products for MCU Gene
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- Cell Signaling Technology (CST) Antibodies for MCU (MCU)
- Search for Antibodies & Assays
- Sino Biological Human cDNA Clone for MCU
- Browse Sino Biological Cell Lysates
- Browse Sino Biological Recombinant Proteins
- Browse Sino Biological Antibodies
- Browse Sino Biological Assays
- Browse Sino Biological ELISA Kits
- Browse Sino Biological ELISA Pair Sets
- Browse Sino Biological CRO Services
- Browse Sino Biological Control Vectors
- Sino Biological Transfection Reagent
- Sino Biological Anti-His Tag Antibody
- Novus Biologicals Antibodies for MCU
- Novus Biologicals proteins and lysates for MCU
- Novus Biologicals
- Novus Biologicals Tissue Microarrays
- Browse Antibodies at Cloud-Clone Corp.
- Browse Proteins at Cloud-Clone Corp.
- Browse Assay Kits at Cloud-Clone Corp.
- Browse Knockouts at Cloud-Clone Corp.
- Browse Knockins at Cloud-Clone Corp.
- Cloud-Clone Corp. disease models service
- Browse cDNA clones at Cloud-Clone Corp.
- Browse primers at Cloud-Clone Corp.
- Cloud-Clone Corp. primary cells service
- Invitrogen Antibodies for MCU
- Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat
- Addgene plasmids for MCU
- antibodies-online: Search results for 5 available MCU Antibodies ranked by validation data
- Compare Top MCU Antibodies
- antibodies-online: Search results for 12 available MCU Elisa Kits ranked by validation data
- Compare Top MCU Elisa Kits
- antibodies-online: Search results for 6 available MCU Proteins ranked by validation data
- Compare Top MCU Proteins
- Search GeneTex for Antibodies for MCU
- Search GeneTex for Proteins for MCU
- ViGene Biosciences adenoviral particle packaged cDNA for MCU gene
- ViGene Biosciences lentiviral particle packaged cDNA for MCU gene
- ViGene Biosciences ready-to-package AAV shRNAs for MCU gene
- Search ViGene Biosciences for MCU
- Horizon Cell Lines for MCU
- genomics-online: cdna clones - Search results for 87 available MCU gene related products
- Overview of 87 available MCU gene related products
- orf clones - Search results for 87 available MCU gene related products
- Overview of 87 available MCU gene related products
- genomics-online: gRNA clones - Search results for 87 available MCU gene related products
- Overview of 87 available MCU gene related products
- genomics-online: primer clones - Search results for 87 available MCU gene related products
- Overview of 87 available MCU gene related products
- genomics-online: shRNA clones - Search results for 87 available MCU gene related products
- Overview of 87 available MCU gene related products
Sources for MCU Gene
- (1) GeneCards
- (2) HGNC
- (3) EntrezGene
- (4) Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) GO
- (12) TrEMBL
- (13) InterPro
- (14) ProtoNet
- (15) Blocks
- (16) MGI
- (17) IUBMB
- (18) KEGG
- (19) MINT
- (20) STRING
- (21) IntAct
- (22) Novoseek
- (23) PharmGKB
- (24) DrugBank
- (25) HMDB
- (26) UniGene
- (27) AceView
- (28) ASD
- (29) ECgene
- (30) GeneAnnot
- (31) CGAP SAGE
- (32) SOURCE
- (33) HomoloGene
- (34) PanEnsembl
- (35) euGenes
- (36) SGD
- (37) FlyBase
- (38) WormBase
- (39) Pseudogene
- (40) DGV
- (41) dbSNP
- (42) GenAtlas
- (43) HGMD
- (44) GAD
- (45) BGMUT
- (46) HuGE
- (47) Atlas
- (48) Cell Signaling Technology
- (49) GenBank
- (50) H-invDB
- (51) HORDE
- (52) HUGE
- (53) IMGT
- (54) Leiden
- (55) miRBase
- (56) DME
- (57) OriGene
- (58) PubMed
- (59) R&D Systems
- (60) TGDB
- (61) Tocris
- (62) Abcam
- (63) Novus Biologicals
- (64) ProSpec
- (65) Sino Biological
- (66) GenScript
- (67) Qiagen
- (68) Cloud-Clone Corp.
- (69) OCA
- (70) Proteopedia
- (71) MOPED
- (72) neXtProt
- (73) Reactome
- (74) GeneGo (Thomson Reuters)
- (75) fRNAdb
- (76) DISEASES
- (77) SIMAP
- (78) GenomeRNAi
- (79) LifeMap
- (80) miRTarBase
- (81) MalaCards
- (82) Invitrogen
- (83) BitterDB
- (84) Vector BioLabs
- (85) ESI-BIO
- (86) RefSeq
- (87) BioSystems
- (88) MaxQB
- (89) IUPHAR
- (90) BioGPS
- (91) Illumina
- (92) COMPARTMENTS
- (93) HOMER
- (94) PaxDb
- (95) ApexBio
- (96) Addgene
- (97) antibodies-online
- (98) CYP
- (99) NONCODE
- (100) SwitchGear Genomics
- (101) TreeFam
- (102) PathCards
- (103) GeneReviews
- (104) GeneTex
- (105) Taconic Biosciences
- (106) GTEx
- (107) ProteomicsDB
- (108) SCBT
- (109) DGIdb
- (110) ClinicalTrials
- (111) FDA Approved Drugs
- (112) RVIS
- (113) SIGNOR
- (114) diseasecard
- (115) NIH Rare Diseases
- (116) Orphanet
- (117) UMLS
- (118) GTR
- (119) Disease Ontology
- (120) Genetics Home Reference
- (121) MeSH
- (122) MedlinePlus
- (123) CDC
- (124) NINDS
- (125) NCBI Bookshelf
- (126) ClinVar
- (127) Gene Damage Index
- (128) ViGene Biosciences
- (129) HPO
- (130) UDN
- (131) VISTA
- (132) FANTOM5
- (133) ENCODE
- (134) ProSci
- (135) Horizon
- (136) NURSA
- (137) IID
- (138) Cyagen
- (139) VectorBuilder
- (140) SNPedia
- (141) BRCA Exchange
- (142) St John's Lab
- (143) CIViC
- (144) ProteoGenix
- (145) dbSUPER
- (146) TISSUES
- (147) Gene ORGANizer
- (148) abm
- (149) CrownBio
- (150) Human Protein Atlas
- (151) GWAS Catalog
- (152) Monarch Initiative
- (153) DataMed
- (154) HumanCyc
- (155) genomics-online
- (156) UCNEbase
- (157) EPDnew