MCUB (mitochondrial calcium uniporter dominant negative subunit beta)

Gene

• Entrez ID: 55013
• Gene name: Mitochondrial calcium uniporter dominant negative subunit beta
• Gene symbol: MCUB
• Synonyms (NCBI Gene): CCDC109B
• Chromosome: 4
• Chromosome location: 4q25

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005216	Function	Monoatomic ion channel activity	ISS
GO:0005515	Function	Protein binding	IPI	33961781
GO:0005739	Component	Mitochondrion	HTP	34800366
GO:0005739	Component	Mitochondrion	IDA
GO:0005739	Component	Mitochondrion	IEA
GO:0005739	Component	Mitochondrion	ISS
GO:0005743	Component	Mitochondrial inner membrane	IDA	24231807
GO:0005743	Component	Mitochondrial inner membrane	IEA
GO:0005743	Component	Mitochondrial inner membrane	NAS	31533452
GO:0005743	Component	Mitochondrial inner membrane	TAS
GO:0005829	Component	Cytosol	IDA
GO:0006811	Process	Monoatomic ion transport	IEA
GO:0006816	Process	Calcium ion transport	IEA
GO:0006851	Process	Mitochondrial calcium ion transmembrane transport	ISS
GO:0016020	Component	Membrane	IEA
GO:0016020	Component	Membrane	ISS
GO:0019855	Function	Calcium channel inhibitor activity	IBA
GO:0019855	Function	Calcium channel inhibitor activity	IDA	31533452
GO:0019855	Function	Calcium channel inhibitor activity	ISS
GO:0034704	Component	Calcium channel complex	ISS
GO:0036444	Process	Calcium import into the mitochondrion	IBA
GO:0036444	Process	Calcium import into the mitochondrion	IDA	22925203
GO:0036444	Process	Calcium import into the mitochondrion	IMP	23755363
GO:0036444	Process	Calcium import into the mitochondrion	NAS	31533452
GO:0043030	Process	Regulation of macrophage activation	ISS
GO:0043403	Process	Skeletal muscle tissue regeneration	ISS
GO:0051560	Process	Mitochondrial calcium ion homeostasis	IBA
GO:0051560	Process	Mitochondrial calcium ion homeostasis	IEA
GO:0051560	Process	Mitochondrial calcium ion homeostasis	ISS
GO:0051560	Process	Mitochondrial calcium ion homeostasis	NAS	31533452
GO:0110099	Process	Negative regulation of calcium import into the mitochondrion	IDA	31533452
GO:1902726	Process	Positive regulation of skeletal muscle satellite cell differentiation	ISS
GO:1990246	Component	Uniplex complex	IBA
GO:1990246	Component	Uniplex complex	IDA	24231807
GO:1990246	Component	Uniplex complex	NAS	31533452

Other IDs

• MIM: 620702
• HGNC: 26076
• e!Ensembl: ENSG00000005059

Protein

• UniProt ID: Q9NWR8
• Protein name: Calcium uniporter regulatory subunit MCUb, mitochondrial (MCUb) (Coiled-coil domain-containing protein 109B)
• Protein function: Negative regulator of the mitochondrial calcium uniporter (MCU), a channel that mediates calcium uptake into the mitochondrial matrix (PubMed:31533452). MCUB is required to limit mitochondrial calcium overload during stress (PubMed:31533452). Ac
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF04678	MCU	103 → 305	Mitochondrial calcium uniporter	Family

• Sequence:

  MLQRGLWPWRTRLLPTPGTWRPARPWPLPPPPQVLRVKLCGNVKYYQSHHYSTVVPPDEI
  TVIYRHGLPLVTLTLPSRKERCQFVVKPMLSTVGSFLQDLQNEDKGIKTAAIFTADGNMI
  SASTLMDILLMNDFKLVINKIAYDVQCPKREKPSNEHTAEMEHMKSLVHRLFTILHLEES
  QKKREHHLLEKIDHLKEQLQPLEQVKAGIEAHSEAKTSGLLWAGLALLSIQGGALAWLTW
  WVYSWDIMEPVTYFITFANSMVFFAYFIVTRQDYTYSAVKSRQFLQFFHKKSKQQHFDVQ
  QYNKLKEDLAKAKESLKQARHSLCLQMQVEELNEKN

• Sequence length: 336

Pathways

Reactome:

Mitochondrial calcium ion transport
Processing of SMDT1

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
ATRIAL FIBRILLATION	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOVASCULAR DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CORONARY ARTERY DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GLAUCOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations