KCNH5
entrez
27133
canonical
uniprot
Q8NCM2
canonical
ensembl
ENSG00000140015
resolver
ensp
ENSP00000321427
resolver
ensp
ENSP00000378419
resolver
ensp
ENSP00000395439
resolver
genesymbol
KCNH5
resolver
genesymbol_syn
EAG2
resolver
hgnc
HGNC:6254
resolver
uniprot
C9JP98
resolver
uniprot_entry
KCNH5_HUMAN
resolver
uniprot_sec
C9JP98
resolver
amino_acid_sequence
MPGGKRGLVAPQNTFLENIVRRSSESSFLLGNAQIVDWPVVYSNDGFCKLSGYHRADVMQKSSTCSFMYGELTDKKTIEKVRQTFDNYESNCFEVLLYKKNRTPVWFYMQIAPIRNEHEKVVLFLCTFKDITLFKQPIEDDSTKGWTKFARLTRALTNSRSVLQQLTPMNKTEVVHKHSRLAEVLQLGSDILPQYKQEAPKTPPHIILHYCAFKTTWDWVILILTFYTAIMVPYNVSFKTKQNNIAWLVLDSVVDVIFLVDIVLNFHTTFVGPGGEVISDPKLIRMNYLKTWFVIDLLSCLPYDIINAFENVDEGISSLFSSLKVVRLLRLGRVARKLDHYLEYGAAVLVLLVCVFGLVAHWLACIWYSIGDYEVIDEVTNTIQIDSWLYQLALSIGTPYRYNTSAGIWEGGPSKDSLYVSSLYFTMTSLTTIGFGNIAPTTDVEKMFSVAMMMVGSLLYATIFGNVTTIFQQMYANTNRYHEMLNNVRDFLKLYQVPKGLSERVMDYIVSTWSMSKGIDTEKVLSICPKDMRADICVHLNRKVFNEHPAFRLASDGCLRALAVEFQTIHCAPGDLIYHAGESVDALCFVVSGSLEVIQDDEVVAILGKGDVFGDIFWKETTLAHACANVRALTYCDLHIIKREALLKVLDFYTAFANSFSRNLTLTCNLRKRIIFRKISDVKKEEEERLRQKNEVTLSIPVDHPVRKLFQKFKQQKELRNQGSTQGDPERNQLQVESRSLQNGASITGTSVVTVSQITPIQTSLAYVKTSESLKQNNRDAMELKPNGGADQKCLKVNSPIRMKNGNGKGWLRLKNNMGAHEEKKEDWNNVTKAESMGLLSEDPKSSDSENSVTKNPLRKTDSCDSGITKSDLRLDKAGEARSPLEHSPIQADAKHPFYPIPEQALQTTLQEVKHELKEDIQLLSCRMTALEKQVAEILKILSEKSVPQASSPKSQMPLQVPPQIPCQDIFSVSRPESPESDKDEIHF
uniprot
proteins
disease_involvement
DISEASE: Developmental and epileptic encephalopathy 112 (DEE112) [MIM:620537]: A form of epileptic encephalopathy, a heterogeneous group of early-onset epilepsies characterized by refractory seizures, neurodevelopmental impairment, and poor prognosis. Development is normal prior to seizure onset, after which cognitive and motor delays become apparent. DEE112 is an autosomal dominant form characterized by onset in infancy, and a wide range of seizure types including focal and generalized seizures. Cognitive outcomes range from normal intellect to profound intellectual development impairment. {ECO:0000269|PubMed:23647072, ECO:0000269|PubMed:24133262, ECO:0000269|PubMed:32725632, ECO:0000269|PubMed:34136434, ECO:0000269|PubMed:35874597, ECO:0000269|PubMed:36307226}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Pore-forming (alpha) subunit of a voltage-gated delayed rectifier potassium channel that mediates outward-rectifying potassium currents which, on depolarization, reaches a steady-state level and do not inactivate (PubMed:11943152, PubMed:12135768, PubMed:24133262, PubMed:36928654). The kinetic is characterized by a slow activation time course and a small voltage dependence of the activation time constants, therefore, starts to open at more negative voltages (PubMed:11943152, PubMed:12135768). The activation kinetics depend on the prepulse potential and external divalent cation concentration (PubMed:11943152, PubMed:24133262). The time course of activation is biphasic with a fast and a slowly activating current component (PubMed:11943152, PubMed:12135768, PubMed:36928654). With negative prepulses, the current activation is delayed and slowed down several fold, whereas more positive prepulses speed up activation, therefore the activation rate depends on holding potential (PubMed:11943152, PubMed:12135768, PubMed:36928654). {ECO:0000269|PubMed:11943152, ECO:0000269|PubMed:12135768, ECO:0000269|PubMed:24133262, ECO:0000269|PubMed:36928654}.
uniprot
proteins
mass_dalton
111877
uniprot
proteins
mutagenesis
MUTAGEN 337; /note="K->A: Left-shifts the half-activation membrane potential."; /evidence="ECO:0000269|PubMed:36928654"; MUTAGEN 468; /note="T->A: Reduces the delayed rectifier potassium channel activity. Has little effect on the voltage sensitivity."; /evidence="ECO:0000269|PubMed:36928654"; MUTAGEN 472; /note="Q->A: Almost loss of the delayed rectifier potassium channel activity. Has little effect on the voltage sensitivity."; /evidence="ECO:0000269|PubMed:36928654
uniprot
proteins
protein_family
H (Eag) (TC 1.A.1.20) subfamily
uniprot
proteins
protein_family
Kv10.2/KCNH5 sub-subfamily
uniprot
proteins
protein_family
Potassium channel family
uniprot
proteins
pubmed
11943152
uniprot
proteins
pubmed
12135768
uniprot
proteins
pubmed
12508121
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
18655026
uniprot
proteins
pubmed
23647072
uniprot
proteins
pubmed
24133262
uniprot
proteins
pubmed
32725632
uniprot
proteins
pubmed
34136434
uniprot
proteins
pubmed
35874597
uniprot
proteins
pubmed
36307226
uniprot
proteins
pubmed
36928654
uniprot
proteins
sequence_length
988
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Membrane; Multi-pass membrane protein.
uniprot
proteins
transmembrane_region
TRANSMEM 218..238; /note="Helical; Name=Segment S1"; /evidence="ECO:0000255"; TRANSMEM 244..264; /note="Helical; Name=Segment S2"; /evidence="ECO:0000255"; TRANSMEM 292..312; /note="Helical; Name=Segment S3"; /evidence="ECO:0000255"; TRANSMEM 320..340; /note="Helical; Voltage-sensor; Name=Segment S4"; /evidence="ECO:0000255"; TRANSMEM 347..367; /note="Helical; Name=Segment S5"; /evidence="ECO:0000255"; TRANSMEM 447..467; /note="Helical; Name=Segment S6"; /evidence="ECO:0000255
uniprot
proteins