MCUB

mitochondrial calcium uniporter dominant negative subunit beta

Basic information

Region (hg38): 4:109560208-109688719

Previous symbols: [ "CCDC109B" ]

Links

ENSG00000005059 ∙ NCBI:55013 ∙ ∙ HGNC:26076 ∙ Uniprot:Q9NWR8 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the MCUB gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the MCUB gene is commonly pathogenic or not.

In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.

Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.

Variant type	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous						0
missense			3			3
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	3	0	0

Variants in MCUB

This is a list of pathogenic ClinVar variants found in the MCUB region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position	Type	Phenotype	Significance	ClinVar
4-109659025-G-C		See cases	Uncertain significance (Oct 02, 2019)
4-109660341-A-G		not specified	Uncertain significance (Jun 11, 2021)
4-109669323-G-T			not provided (-)
4-109687540-G-A		not specified	Uncertain significance (Sep 01, 2021)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
MCUB	protein_coding	protein_coding	ENST00000394650	8	128514

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
2.28e-8	0.273	125703	0	45	125748	0.000179

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.193	147	154	0.956	0.00000760	2190
Missense in Polyphen		36	37.408	0.96237		488
Synonymous	0.301	53	55.9	0.949	0.00000283	621
Loss of Function	0.542	13	15.3	0.850	7.09e-7	211

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000268	0.000268
Ashkenazi Jewish	0.00	0.00
East Asian	0.000222	0.000217
Finnish	0.000141	0.000139
European (Non-Finnish)	0.000161	0.000158
Middle Eastern	0.000222	0.000217
South Asian	0.000363	0.000359
Other	0.000331	0.000326

dbNSFP

Source: dbNSFP

• Function: 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. {ECO:0000250|UniProtKB:Q810S1}.
• Pathway: Transport of small molecules;Mitochondrial calcium ion transport;Processing of SMDT1 (Consensus)

Recessive Scores

• pRec: 0.0874

Intolerance Scores

• rvis_EVS: 0.4
• rvis_percentile_EVS: 76.15

Haploinsufficiency Scores

• pHI: 0.104
• hipred: N
• hipred_score: 0.170
• ghis: 0.489

Essentials

• essential_gene_gene_trap: N

Mouse Genome Informatics

• Gene name: Mcub
• Phenotype: behavior/neurological phenotype (the observable actions or reactions of mammalian organisms that are manifested through development and lifespan); integument phenotype (the observable morphological and physiological characteristics of the skin and its associated structures, such as the hair, nails, sweat glands, sebaceous glands and other secretory glands that are manifested through development and lifespan)

Gene ontology

• Biological process: mitochondrial calcium ion transmembrane transport;calcium import into the mitochondrion;mitochondrial calcium ion homeostasis
• Cellular component: mitochondrion;mitochondrial inner membrane;intrinsic component of membrane;integral component of mitochondrial inner membrane;calcium channel complex;uniplex complex
• Molecular function: ion channel activity;calcium channel inhibitor activity