• Gene id: 55013

Gene Summary

• Gene Symbol: MCUB   Gene   UCSC   Ensembl
• Aliases: CCDC109B
• Gene name: mitochondrial calcium uniporter dominant negative subunit beta
• Alternate names: calcium uniporter regulatory subunit MCUb, mitochondrial, coiled-coil domain containing 109B, coiled-coil domain-containing protein 109B, mitochondrial calcium uniporter dominant negative beta subunit, mitochondrial calcium uniporter regulatory subunit MCUb,
• Gene location: 4q25 (109560245: 109688718)     Exons: 9     NC_000004.12
• OMIM: 193190

Protein Summary

• Protein general information: Q9NWR8  
  • Name: Calcium uniporter regulatory subunit MCUb, mitochondrial (MCUb) (Coiled coil domain containing protein 109B)
  • Length: 336  
  • Mass: 39082
• Sequence:

  MLQRGLWPWRTRLLPTPGTWRPARPWPLPPPPQVLRVKLCGNVKYYQSHHYSTVVPPDEITVIYRHGLPLVTLTL
  PSRKERCQFVVKPMLSTVGSFLQDLQNEDKGIKTAAIFTADGNMISASTLMDILLMNDFKLVINKIAYDVQCPKR
  EKPSNEHTAEMEHMKSLVHRLFTILHLEESQKKREHHLLEKIDHLKEQLQPLEQVKAGIEAHSEAKTSGLLWAGL
  ALLSIQGGALAWLTWWVYSWDIMEPVTYFITFANSMVFFAYFIVTRQDYTYSAVKSRQFLQFFHKKSKQQHFDVQ
  QYNKLKEDLAKAKESLKQARHSLCLQMQVEELNEKN

• Structural information:
  • Interpro: IPR006769  IPR039055  
  • STRING: ENSP00000378145
• Other Databases: GeneCards:  MCUB  Malacards:  MCUB

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0031305	integral component of mitochondrial inner membrane	IBA	cellular component
GO:0036444	calcium import into the mitochondrion	IBA	biological process
GO:0019855	calcium channel inhibitor activity	IBA	molecular function
GO:0051560	mitochondrial calcium ion homeostasis	IBA	biological process
GO:1990246	uniplex complex	IBA	cellular component
GO:1990246	uniplex complex	IDA	cellular component
GO:0031305	integral component of mitochondrial inner membrane	IDA	cellular component
GO:0051560	mitochondrial calcium ion homeostasis	ISS	biological process
GO:0031224	intrinsic component of membrane	ISS	cellular component
GO:0019855	calcium channel inhibitor activity	ISS	molecular function
GO:0034704	calcium channel complex	ISS	cellular component
GO:0006851	mitochondrial calcium ion transmembrane transport	ISS	biological process
GO:0005739	mitochondrion	ISS	cellular component
GO:0005216	ion channel activity	ISS	NOT|molecular function
GO:0051560	mitochondrial calcium ion homeostasis	IEA	biological process
GO:0006816	calcium ion transport	IEA	biological process
GO:0005743	mitochondrial inner membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0006811	ion transport	IEA	biological process
GO:0016021	integral component of membrane	IEA	cellular component
GO:0005739	mitochondrion	IEA	cellular component
GO:0005743	mitochondrial inner membrane	TAS	cellular component
GO:0005743	mitochondrial inner membrane	TAS	cellular component
GO:0006851	mitochondrial calcium ion transmembrane transport	TAS	biological process
GO:0051560	mitochondrial calcium ion homeostasis	IEA	biological process
GO:0031224	intrinsic component of membrane	IEA	cellular component
GO:0019855	calcium channel inhibitor activity	IEA	molecular function
GO:0034704	calcium channel complex	IEA	cellular component
GO:0006851	mitochondrial calcium ion transmembrane transport	IEA	biological process
GO:0005739	mitochondrion	IEA	cellular component
GO:0005743	mitochondrial inner membrane	IEA	cellular component
GO:0005739	mitochondrion	IDA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0043231	intracellular membrane-bounded organelle	IDA	cellular component

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq