MINAR2
entrez
100127206
canonical
uniprot
P59773
canonical
ensembl
ENSG00000186367
resolver
ensp
ENSP00000454268
resolver
enst
ENST00000564719
resolver
genesymbol
MINAR2
resolver
genesymbol_syn
KIAA1024L
resolver
hgnc
HGNC:33914
resolver
uniprot
H3BM78
resolver
uniprot_entry
MNARL_HUMAN
resolver
uniprot_sec
H3BM78
resolver
amino_acid_sequence
MDLSVLPNNNHPDKFLQLDVKSLTRSSALLQASLVRFPGGNYPAAQHWQNLVYSQREKKNIAAQRIRGSSADSLVTADSPPPSMSSVMKNNPLYGDLSLEEAMEERKKNPSWTIEEYDKHSLHTNLSGHLKENPNDLRFWLGDMYTPGFDTLLKKEEKQEKHSKFCRMGLILLVVISILVTIVTIITFFT
uniprot
proteins
disease_involvement
DISEASE: Deafness, autosomal recessive, 120 (DFNB120) [MIM:620238]: A form of non-syndromic deafness characterized by congenital or prelingual onset of severe to profound sensorineural hearing loss. Sensorineural hearing loss results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information. {ECO:0000269|PubMed:35727972}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Binds cholesterol and may regulate the distribution and homeostasis of cholesterol in hair cells (PubMed:36317962). May play a role in angiogenesis (PubMed:35727972). {ECO:0000269|PubMed:35727972, ECO:0000269|PubMed:36317962}.
uniprot
proteins
mass_dalton
21573
uniprot
proteins
mutagenesis
MUTAGEN 112; /note="W->A: Compromises cholesterol recruitment to the perinuclear region; when associated with A-117."; /evidence="ECO:0000269|PubMed:36317962"; MUTAGEN 117; /note="Y->A: Compromises cholesterol recruitment to the perinuclear region; when associated with A-112."; /evidence="ECO:0000269|PubMed:36317962
uniprot
proteins
protein_family
MINAR family
uniprot
proteins
pubmed
15372022
uniprot
proteins
pubmed
32954300
uniprot
proteins
pubmed
35727972
uniprot
proteins
pubmed
36317962
uniprot
proteins
sequence_length
190
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Lysosome membrane {ECO:0000250|UniProtKB:F1QEA1}; Single-pass membrane protein {ECO:0000255}. Endoplasmic reticulum membrane {ECO:0000305|PubMed:32954300}; Single-pass membrane protein {ECO:0000255}. Note=Localizes to the stereocilia and the apical region of hair cell, apparently around and just below the cuticular plate (By similarity). Co-localized with cholesterol in the stereocilia (By similarity). {ECO:0000250|UniProtKB:F1QEA1}.
uniprot
proteins
transmembrane_region
TRANSMEM 169..189; /note="Helical"; /evidence="ECO:0000255
uniprot
proteins