Basic Information
MCUB
Full name: mitochondrial calcium uniporter dominant negative subunit beta
Gene type: protein coding
HGNC ID: HGNC:26076
Gene location: 4q25
Gene resources
NCBI: https://www.ncbi.nlm.nih.gov/gene/55013
Alliance of genome: https://www.alliancegenome.org/gene/HGNC:26076
MANE select: https://www.ncbi.nlm.nih.gov/gene/?term=NM_017918.5
Protein resources
UniProt/Swiss-Prot: https://www.uniprot.org/uniprot/Q9NWR8
AlphaFold: https://alphafold.ebi.ac.uk/entry/Q9NWR8
MEME motif:
Clinical resources
Pathway resources
Variant resources
| Gene | Disease type | Variant type | NCBI dbSNP | Alleles | Variant location |
|---|---|---|---|---|---|
| MCUB | Advanced AMD | Intron Variant | rs7690921 | T>A / T>G | chr4:109657590 (GRCh38.p13) |
| MCUB | CNV vs Irregular PED (+) in CSC | Intron Variant | rs4698775 | G>A / G>C / G>T | chr4:109669323 (GRCh38.p13) |
| MCUB | exudative AMD | Intron Variant | rs13101299 | G>A | chr4:109647066 (GRCh38.p13) |
| MCUB | exudative AMD | Intron Variant | rs9990765 | C>T | chr4:109647555 (GRCh38.p13) |
| MCUB | exudative AMD | Intron Variant | rs4698774 | C>A / C>G / C>T | chr4:109651187 (GRCh38.p13) |
| MCUB | exudative AMD | Intron Variant | rs6830606 | C>A / C>T | chr4:109652893 (GRCh38.p13) |
| MCUB | exudative AMD | Intron Variant | rs17440280 | T>A / T>C | chr4:109660944 (GRCh38.p13) |
| MCUB | exudative AMD | Intron Variant | rs4698779 | C>G | chr4:109675761 (GRCh38.p13) |
