CLRN2
entrez
645104
canonical
uniprot
A0PK11
canonical
ensembl
ENSG00000249581
resolver
ensp
ENSP00000424711
resolver
enst
ENST00000511148
resolver
genesymbol
CLRN2
resolver
hgnc
HGNC:33939
resolver
uniprot_entry
CLRN2_HUMAN
resolver
amino_acid_sequence
MPGWFKKAWYGLASLLSFSSFILIIVALVVPHWLSGKILCQTGVDLVNATDRELVKFIGDIYYGLFRGCKVRQCGLGGRQSQFTIFPHLVKELNAGLHVMILLLLFLALALALVSMGFAILNMIQVPYRAVSGPGGICLWNVLAGGVVALAIASFVAAVKFHDLTERIANFQEKLFQFVVVEEQYEESFWICVASASAHAANLVVVAISQIPLPEIKTKIEEATVTAEDILY
uniprot
proteins
disease_involvement
DISEASE: Deafness, autosomal recessive, 117 (DFNB117) [MIM:619174]: A form of non-syndromic deafness characterized by prelingual, moderate-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:33496845}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Plays a key role to hearing function. Required for normal organization and maintenance of the stereocilia bundle and for mechano-electrical transduction. {ECO:0000250|UniProtKB:B2RVW2}.
uniprot
proteins
mass_dalton
25446
uniprot
proteins
protein_family
Clarin family
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15815621
uniprot
proteins
pubmed
33496845
uniprot
proteins
sequence_length
232
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cell projection, stereocilium membrane {ECO:0000250|UniProtKB:B2RVW2}; Multi-pass membrane protein {ECO:0000255}.
uniprot
proteins
transmembrane_region
TRANSMEM 10..30; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 101..121; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 139..159; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 188..208; /note="Helical"; /evidence="ECO:0000255
uniprot
proteins