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Aliases for MCUB Gene

Aliases for MCUB Gene

  • Mitochondrial Calcium Uniporter Dominant Negative Beta Subunit 2 3 5
  • Coiled-Coil Domain-Containing Protein 109B 3 4
  • Coiled-Coil Domain Containing 109B 2 3
  • CCDC109B 3 4
  • Calcium Uniporter Regulatory Subunit MCUb, Mitochondrial 3
  • Mitochondrial Calcium Uniporter Regulatory Subunit MCUb 3
  • MCUb 4

External Ids for MCUB Gene

Previous HGNC Symbols for MCUB Gene

  • CCDC109B

Summaries for MCUB Gene

GeneCards Summary for MCUB Gene

MCUB (Mitochondrial Calcium Uniporter Dominant Negative Beta Subunit) is a Protein Coding gene. An important paralog of this gene is MCU.

UniProtKB/Swiss-Prot for MCUB Gene

  • Negatively regulates the activity of MCU, the mitochondrial inner membrane calcium uniporter, and thereby modulates calcium uptake into the mitochondrion. Does not form functional calcium channels by itself. Mitochondrial calcium homeostasis plays key roles in cellular physiology and regulates cell bioenergetics, cytoplasmic calcium signals and activation of cell death pathways.

Additional gene information for MCUB 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 MCUB Gene

Genomics for MCUB Gene

GeneHancer (GH) Regulatory Elements for MCUB Gene

Promoters and enhancers for MCUB 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
GH04J109559 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 650.7 +0.3 318 2.7 HDGF PKNOX1 ATF1 SMAD1 SIN3A FEZF1 ZNF2 IRF4 YY1 GLIS2 MCUB GC04M109557 SEC24B SEC24B-AS1 SETP20 CDC42P4 PIR49237
GH04J109548 Enhancer 0.9 FANTOM5 Ensembl ENCODE 7.8 -11.4 -11399 1.4 JUND ZNF316 JUN EMSY MAFK CFI MCUB RBMXP4 SEC24B SETP20 MIR576
GH04J109574 Enhancer 0.8 Ensembl ENCODE 5.3 +14.3 14286 0.7 ELF3 CTCF ZNF654 REST ELF1 RAD21 TEAD3 ZNF335 HDAC2 ZFP91 MCUB GC04P109564 HIGD1AP14
GH04J109576 Enhancer 0.7 ENCODE 0.4 +16.5 16481 0.2 JUN TEAD4 TAL1 FOSL1 TCF12 ZFHX2 CTBP1 GATA3 NCOR1 ZBTB48 GC04P109564 MCUB HIGD1AP14
GH04J109589 Enhancer 0.5 ENCODE 0.3 +29.1 29111 0.2 SMARCE1 GATA3 BCL6B ELF1 GC04P109564 MCUB HIGD1AP14
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around MCUB on UCSC Golden Path with GeneCards custom track

Genomic Locations for MCUB Gene

Genomic Locations for MCUB Gene
chr4:109,560,199-109,688,726
(GRCh38/hg38)
Size:
128,528 bases
Orientation:
Plus strand
chr4:110,481,355-110,609,874
(GRCh37/hg19)
Size:
128,520 bases
Orientation:
Plus strand

Genomic View for MCUB Gene

Genes around MCUB on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
MCUB Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for MCUB Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for MCUB Gene

Proteins for MCUB Gene

  • Protein details for MCUB Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9NWR8-MCUB_HUMAN
    Recommended name:
    Calcium uniporter regulatory subunit MCUb, mitochondrial
    Protein Accession:
    Q9NWR8
    Secondary Accessions:
    • A8K4Y3
    • Q6IAC1

    Protein attributes for MCUB Gene

    Size:
    336 amino acids
    Molecular mass:
    39082 Da
    Quaternary structure:
    • Heterooligomer with MCU; this reduces MCU channel activity. Homooligomer (By similarity). Component of the uniplex complex, composed of MCU, MCUB, MICU1, MICU2 and EMRE/SMDT1.
    SequenceCaution:
    • Sequence=AAH02633.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=BAA91309.1; Type=Erroneous initiation; Evidence={ECO:0000305};

neXtProt entry for MCUB Gene

Post-translational modifications for MCUB Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for MCUB Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for MCUB Gene

Domains & Families for MCUB Gene

Gene Families for MCUB Gene

Human Protein Atlas (HPA):
  • Predicted membrane proteins
  • Transporters

Protein Domains for MCUB Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for MCUB Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9NWR8

UniProtKB/Swiss-Prot:

MCUB_HUMAN :
  • Belongs to the MCU (TC 1.A.77) family.
Family:
  • Belongs to the MCU (TC 1.A.77) family.
genes like me logo Genes that share domains with MCUB: view

Function for MCUB Gene

Molecular function for MCUB Gene

UniProtKB/Swiss-Prot Function:
Negatively regulates the activity of MCU, the mitochondrial inner membrane calcium uniporter, and thereby modulates calcium uptake into the mitochondrion. Does not form functional calcium channels by itself. Mitochondrial calcium homeostasis plays key roles in cellular physiology and regulates cell bioenergetics, cytoplasmic calcium signals and activation of cell death pathways.

Phenotypes From GWAS Catalog for MCUB Gene

Gene Ontology (GO) - Molecular Function for MCUB Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005216 NOT ion channel activity ISS --
GO:0005262 NOT calcium channel activity IBA --
GO:0015292 NOT uniporter activity IBA --
GO:0019855 calcium channel inhibitor activity ISS,IEA --
genes like me logo Genes that share ontologies with MCUB: view
genes like me logo Genes that share phenotypes with MCUB: view

Animal Models for MCUB Gene

MGI Knock Outs for MCUB:
  • Mcub Mcub<tm1b(KOMP)Mbp>

Animal Model Products

miRNA for MCUB Gene

miRTarBase miRNAs that target MCUB

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for MCUB Gene

Localization for MCUB Gene

Subcellular locations from UniProtKB/Swiss-Prot for MCUB Gene

Mitochondrion inner 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 MCUB gene
Compartment Confidence
mitochondrion 5
cytosol 3
nucleus 2
plasma membrane 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (2)
  • Nucleoplasm (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for MCUB Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion ISS --
GO:0005743 mitochondrial inner membrane TAS --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
GO:0031224 intrinsic component of membrane IEA,ISS --
genes like me logo Genes that share ontologies with MCUB: view

Pathways & Interactions for MCUB Gene

No Data Available

Gene Ontology (GO) - Biological Process for MCUB Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006811 ion transport IEA --
GO:0006816 calcium ion transport IEA --
GO:0006851 mitochondrial calcium ion transmembrane transport TAS,IEA --
GO:0036444 calcium import into the mitochondrion IBA --
GO:0051560 mitochondrial calcium ion homeostasis IEA,ISS --
genes like me logo Genes that share ontologies with MCUB: view

No data available for Pathways by source and SIGNOR curated interactions for MCUB Gene

Drugs & Compounds for MCUB Gene

No Compound Related Data Available

Transcripts for MCUB Gene

mRNA/cDNA for MCUB Gene

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for MCUB Gene

No ASD Table

Relevant External Links for MCUB Gene

GeneLoc Exon Structure for
MCUB
ECgene alternative splicing isoforms for
MCUB

Expression for MCUB Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

NURSA nuclear receptor signaling pathways regulating expression of MCUB Gene:

MCUB
genes like me logo Genes that share expression patterns with MCUB: view

No data available for mRNA expression in normal human tissues , mRNA differential expression in normal tissues , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for MCUB Gene

Orthologs for MCUB Gene

This gene was present in the common ancestor of animals.

Orthologs for MCUB Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia CCDC109B 34 33
  • 99.11 (n)
OneToOne
cow
(Bos Taurus)
Mammalia CCDC109B 34 33
  • 86.59 (n)
OneToOne
dog
(Canis familiaris)
Mammalia CCDC109B 34 33
  • 85.22 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Ccdc109b 33
  • 77.58 (n)
mouse
(Mus musculus)
Mammalia Ccdc109b 34 33
  • 77.48 (n)
OneToOne
Mcub 16
oppossum
(Monodelphis domestica)
Mammalia CCDC109B 34
  • 63 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia CCDC109B 34
  • 61 (a)
OneToOne
chicken
(Gallus gallus)
Aves CCDC109B 34 33
  • 68.97 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia CCDC109B 34
  • 52 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ccdc109b 33
  • 63.86 (n)
Str.15484 33
African clawed frog
(Xenopus laevis)
Amphibia Xl.21402 33
fruit fly
(Drosophila melanogaster)
Insecta CG18769 34
  • 23 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea mcu-1 34
  • 29 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 39 (a)
OneToMany
Species where no ortholog for MCUB was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • 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 (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)
  • zebrafish (Danio rerio)

Evolution for MCUB Gene

ENSEMBL:
Gene Tree for MCUB (if available)
TreeFam:
Gene Tree for MCUB (if available)
Aminode:
Evolutionary constrained regions (ECRs) for MCUB: view image

Paralogs for MCUB Gene

Paralogs for MCUB Gene

genes like me logo Genes that share paralogs with MCUB: view

Variants for MCUB Gene

Sequence variations from dbSNP and Humsavar for MCUB Gene

SNP ID Clin Chr 04 pos Variation AA Info Type
rs4698775 not-provided, not provided 109,669,323(+) G/T intron_variant
rs1000027132 -- 109,664,868(+) T/C intron_variant
rs1000050216 -- 109,577,339(+) C/T intron_variant
rs1000053612 -- 109,588,530(+) A/C intron_variant
rs1000126968 -- 109,623,187(+) C/T intron_variant

Structural Variations from Database of Genomic Variants (DGV) for MCUB Gene

Variant ID Type Subtype PubMed ID
dgv2876n106 CNV deletion 24896259
esv2350206 CNV deletion 18987734
esv2518482 CNV deletion 19546169
esv2658349 CNV deletion 23128226
esv2728129 CNV deletion 23290073
esv3332433 CNV insertion 20981092
esv3474 CNV loss 18987735
esv3564431 CNV deletion 23714750
esv3894003 CNV loss 25118596
esv7767 CNV loss 19470904
nsv1074744 CNV deletion 25765185
nsv1123828 CNV deletion 24896259
nsv1149565 CNV deletion 26484159
nsv292142 CNV deletion 16902084
nsv461613 CNV gain 19166990
nsv508303 CNV deletion 20534489
nsv595129 CNV gain 21841781
nsv822683 CNV gain 20364138
nsv956420 CNV deletion 24416366
nsv967783 CNV duplication 23825009
nsv967784 CNV duplication 23825009

Variation tolerance for MCUB Gene

Residual Variation Intolerance Score: 88.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 9.23; 88.06% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for MCUB Gene

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

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for MCUB Gene

Disorders for MCUB Gene

No disorders were found for MCUB Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for MCUB Gene

Publications for MCUB Gene

  1. The mitochondrial calcium uniporter is a multimer that can include a dominant-negative pore-forming subunit. (PMID: 23900286) Raffaello A … Rizzuto R (The EMBO journal 2013) 2 3 58
  2. EMRE is an essential component of the mitochondrial calcium uniporter complex. (PMID: 24231807) Sancak Y … Mootha VK (Science (New York, N.Y.) 2013) 3 4 58
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 58
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 58
  5. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 58

Products for MCUB Gene

Sources for MCUB Gene

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