KCNV2
entrez
169522
canonical
uniprot
Q8TDN2
canonical
ensembl
ENSG00000168263
resolver
ensp
ENSP00000371514
resolver
enst
ENST00000382082
resolver
genesymbol
KCNV2
resolver
hgnc
HGNC:19698
resolver
uniprot
Q5T6X0
resolver
uniprot_entry
KCNV2_HUMAN
resolver
uniprot_sec
Q5T6X0
resolver
amino_acid_sequence
MLKQSERRRSWSYRPWNTTENEGSQHRRSICSLGARSGSQASIHGWTEGNYNYYIEEDEDGEEEDQWKDDLAEEDQQAGEVTTAKPEGPSDPPALLSTLNVNVGGHSYQLDYCELAGFPKTRLGRLATSTSRSRQLSLCDDYEEQTDEYFFDRDPAVFQLVYNFYLSGVLLVLDGLCPRRFLEELGYWGVRLKYTPRCCRICFEERRDELSERLKIQHELRAQAQVEEAEELFRDMRFYGPQRRRLWNLMEKPFSSVAAKAIGVASSTFVLVSVVALALNTVEEMQQHSGQGEGGPDLRPILEHVEMLCMGFFTLEYLLRLASTPDLRRFARSALNLVDLVAILPLYLQLLLECFTGEGHQRGQTVGSVGKVGQVLRVMRLMRIFRILKLARHSTGLRAFGFTLRQCYQQVGCLLLFIAMGIFTFSAAVYSVEHDVPSTNFTTIPHSWWWAAVSISTVGYGDMYPETHLGRFFAFLCIAFGIILNGMPISILYNKFSDYYSKLKAYEYTTIRRERGEVNFMQRARKKIAECLLGSNPQLTPRQEN
uniprot
proteins
disease_involvement
DISEASE: Cone dystrophy with supernormal rod responses (CDSRR) [MIM:610356]: An autosomal recessive ocular disorder characterized by macular dysfunction, reduced and delayed cone responses, and supernormal and delayed rod responses. The onset of symptoms is in the first and second decades of life, and patients have reduced central vision, marked photophobia, reduced color discrimination predominantly along the red-green axes while tritan color vision is relatively well preserved. Nyctalopia is a later feature of the disorder. {ECO:0000269|PubMed:16909397, ECO:0000269|PubMed:34535971}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Potassium channel subunit. Modulates channel activity by shifting the threshold and the half-maximal activation to more negative values.
uniprot
proteins
mass_dalton
62459
uniprot
proteins
protein_family
Kv8.2/KCNV2 sub-subfamily
uniprot
proteins
protein_family
Potassium channel family
uniprot
proteins
protein_family
V (TC 1.A.1.2) subfamily
uniprot
proteins
pubmed
12060745
uniprot
proteins
pubmed
15164053
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16909397
uniprot
proteins
pubmed
34535971
uniprot
proteins
sequence_length
545
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein. Note=Has to be associated with KCNB1 or possibly another partner to get inserted in the plasma membrane. Remains intracellular in the absence of KCNB1.
uniprot
proteins
transmembrane_region
TRANSMEM 156..176; /note="Helical; Name=Segment S1"; /evidence="ECO:0000255"; TRANSMEM 262..282; /note="Helical; Name=Segment S2"; /evidence="ECO:0000255"; TRANSMEM 337..357; /note="Helical; Name=Segment S3"; /evidence="ECO:0000255"; TRANSMEM 375..395; /note="Helical; Voltage-sensor; Name=Segment S4"; /evidence="ECO:0000255"; TRANSMEM 411..431; /note="Helical; Name=Segment S5"; /evidence="ECO:0000255"; TRANSMEM 472..492; /note="Helical; Name=Segment S6"; /evidence="ECO:0000255
uniprot
proteins