Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	55013
Gene name Gene Name - the full gene name approved by the HGNC.	Mitochondrial calcium uniporter dominant negative subunit beta
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	MCUB
Synonyms (NCBI Gene) Gene synonyms aliases	CCDC109B
Chromosome Chromosome number	4
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	4q25

Show/Hide all(19)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005216	Function	Ion channel activity	ISS
GO:0005654	Component	Nucleoplasm	IDA
GO:0005739	Component	Mitochondrion	IDA
GO:0005739	Component	Mitochondrion	ISS
GO:0005743	Component	Mitochondrial inner membrane	TAS
GO:0006851	Process	Mitochondrial calcium ion transmembrane transport	ISS
GO:0006851	Process	Mitochondrial calcium ion transmembrane transport	TAS
GO:0019855	Function	Calcium channel inhibitor activity	IBA	21873635
GO:0019855	Function	Calcium channel inhibitor activity	ISS
GO:0031224	Component	Intrinsic component of membrane	ISS
GO:0031305	Component	Integral component of mitochondrial inner membrane	IBA	21873635
GO:0031305	Component	Integral component of mitochondrial inner membrane	IDA	24231807
GO:0034704	Component	Calcium channel complex	ISS
GO:0036444	Process	Calcium import into the mitochondrion	IBA	21873635
GO:0043231	Component	Intracellular membrane-bounded organelle	IDA
GO:0051560	Process	Mitochondrial calcium ion homeostasis	IBA	21873635
GO:0051560	Process	Mitochondrial calcium ion homeostasis	ISS
GO:1990246	Component	Uniplex complex	IBA	21873635
GO:1990246	Component	Uniplex complex	IDA	24231807

MIM	HGNC	e!Ensembl
620702	26076	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

Interactions

View interactions

	Reactome
			Mitochondrial calcium ion transport Processing of SMDT1

Show/Hide Causal Diseases (1)

Disease term	Disease name	dbSNP ID	References
Causal
Age-related macular degeneration	Age related macular degeneration	rs199474657, rs61750120, rs1800728, rs62654397, rs61749423, rs61751412, rs61749439, rs61751398, rs61752417, rs62645946, rs1801269, rs62646860, rs61750142, rs61750145, rs61750152 View all (20 more)	23455636

Show/Hide Unknown Diseases (2)

Disease term	Disease name	Source
Unknown
Coronary Heart Disease	Coronary Heart Disease	GWAS
Atrial Fibrillation	Atrial Fibrillation	GWAS

MCUB (mitochondrial calcium uniporter dominant negative subunit beta)