CLDN9
entrez
9080
canonical
uniprot
O95484
canonical
ensembl
ENSG00000213937
resolver
ensp
ENSP00000398017
resolver
enst
ENST00000445369
resolver
genesymbol
CLDN9
resolver
hgnc
HGNC:2051
resolver
uniprot_entry
CLD9_HUMAN
resolver
amino_acid_sequence
MASTGLELLGMTLAVLGWLGTLVSCALPLWKVTAFIGNSIVVAQVVWEGLWMSCVVQSTGQMQCKVYDSLLALPQDLQAARALCVIALLLALLGLLVAITGAQCTTCVEDEGAKARIVLTAGVILLLAGILVLIPVCWTAHAIIQDFYNPLVAEALKRELGASLYLGWAAAALLMLGGGLLCCTCPPPQVERPRGPRLGYSIPSRSGASGLDKRDYV
uniprot
proteins
disease_involvement
DISEASE: Deafness, autosomal recessive, 116 (DFNB116) [MIM:619093]: A form of non-syndromic deafness characterized by slowly progressive, moderate to profound sensorineural hearing loss. Sensorineural deafness 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:31175426}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Plays a major role in tight junction-specific obliteration of the intercellular space, through calcium-independent cell-adhesion activity. {ECO:0000250|UniProtKB:O95832}.; FUNCTION: (Microbial infection) Acts as a receptor for hepatitis C virus (HCV) entry into hepatic cells. {ECO:0000269|PubMed:17804490, ECO:0000269|PubMed:20375010}.
uniprot
proteins
mass_dalton
22848
uniprot
proteins
mutagenesis
MUTAGEN 38; /note="N->S: Mildly decrease HCV infection susceptibility in cell culture."; /evidence="ECO:0000269|PubMed:17804490"; MUTAGEN 43; /note="A->S: No effect on HCV infection susceptibility in cell culture."; /evidence="ECO:0000269|PubMed:17804490"; MUTAGEN 45; /note="V->N: Abolishes HCV infection susceptibility in cell culture."; /evidence="ECO:0000269|PubMed:17804490"; MUTAGEN 53; /note="S->N: No effect on HCV infection susceptibility in cell culture."; /evidence="ECO:0000269|PubMed:17804490
uniprot
proteins
protein_family
Claudin family
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
17804490
uniprot
proteins
pubmed
20375010
uniprot
proteins
pubmed
31175426
uniprot
proteins
sequence_length
217
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cell junction, tight junction. Cell membrane {ECO:0000269|PubMed:20375010, ECO:0000269|PubMed:31175426}; Multi-pass membrane protein {ECO:0000255}.
uniprot
proteins
transmembrane_region
TRANSMEM 8..28; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 82..102; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 117..137; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 160..180; /note="Helical"; /evidence="ECO:0000255
uniprot
proteins