KCNH5
Voltage-gated delayed rectifier potassium channel KCNH5
Also known as: eag2, H-EAG2, hEAG2, KCNH5_HUMAN, Kv10.2
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- Q8NCM2
- Gene
- KCNH5
- Ensembl
- ENSG00000140015
- Chromosome
- 14
- Canonical length
- 988 aa
- Protein class
- Predicted membrane proteins, Transporters, Voltage-gated ion channels
- Subcellular location
- Nucleoplasm,Centrosome,Cytosol
- Quaternary structure
- Homotetramer
OverviewNCBI Gene
This gene encodes a member of voltage-gated potassium channels. Members of this family have diverse functions, including regulating neurotransmitter and hormone release, cardiac function, and cell volume. This protein is an outward-rectifying, noninactivating channel. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]
Canonical amino-acid sequenceUniProt
988 residues, UniProt reviewed canonical sequence.
>Q8NCM2|KCNH5
1 MPGGKRGLVA PQNTFLENIV RRSSESSFLL GNAQIVDWPV VYSNDGFCKL SGYHRADVMQ
61 KSSTCSFMYG ELTDKKTIEK VRQTFDNYES NCFEVLLYKK NRTPVWFYMQ IAPIRNEHEK
121 VVLFLCTFKD ITLFKQPIED DSTKGWTKFA RLTRALTNSR SVLQQLTPMN KTEVVHKHSR
181 LAEVLQLGSD ILPQYKQEAP KTPPHIILHY CAFKTTWDWV ILILTFYTAI MVPYNVSFKT
241 KQNNIAWLVL DSVVDVIFLV DIVLNFHTTF VGPGGEVISD PKLIRMNYLK TWFVIDLLSC
301 LPYDIINAFE NVDEGISSLF SSLKVVRLLR LGRVARKLDH YLEYGAAVLV LLVCVFGLVA
361 HWLACIWYSI GDYEVIDEVT NTIQIDSWLY QLALSIGTPY RYNTSAGIWE GGPSKDSLYV
421 SSLYFTMTSL TTIGFGNIAP TTDVEKMFSV AMMMVGSLLY ATIFGNVTTI FQQMYANTNR
481 YHEMLNNVRD FLKLYQVPKG LSERVMDYIV STWSMSKGID TEKVLSICPK DMRADICVHL
541 NRKVFNEHPA FRLASDGCLR ALAVEFQTIH CAPGDLIYHA GESVDALCFV VSGSLEVIQD
601 DEVVAILGKG DVFGDIFWKE TTLAHACANV RALTYCDLHI IKREALLKVL DFYTAFANSF
661 SRNLTLTCNL RKRIIFRKIS DVKKEEEERL RQKNEVTLSI PVDHPVRKLF QKFKQQKELR
721 NQGSTQGDPE RNQLQVESRS LQNGASITGT SVVTVSQITP IQTSLAYVKT SESLKQNNRD
781 AMELKPNGGA DQKCLKVNSP IRMKNGNGKG WLRLKNNMGA HEEKKEDWNN VTKAESMGLL
841 SEDPKSSDSE NSVTKNPLRK TDSCDSGITK SDLRLDKAGE ARSPLEHSPI QADAKHPFYP
901 IPEQALQTTL QEVKHELKED IQLLSCRMTA LEKQVAEILK ILSEKSVPQA SSPKSQMPLQ
961 VPPQIPCQDI FSVSRPESPE SDKDEIHFLocalizationUniProt · AlphaFold · HPA
Whether an antibody against KCNH5 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.
- Antibody reachability
- Cell surface
- Secreted
- No
- Transmembrane segments
- 6
- Mean surface accessibility (rSASA)
- 0.43
- Highest tissue expression
- 4.1 nTPM
Expression across tissuesHPA
Tissue
- retina: 4.1 nTPM
- cerebral cortex: 2.1 nTPM
- adrenal gland: 1 nTPM
- hypothalamus: 1 nTPM
- amygdala: 0.6 nTPM
- choroid plexus: 0.5 nTPM
Single-cell type
- retinal amacrine cells: 499 nCPM
- retinal pigment epithelial cells: 439 nCPM
- retinal bipolar cells: 418 nCPM
- corticotrophs: 416 nCPM
- choroid plexus epithelial cells: 357 nCPM
- adrenal medulla cells: 128 nCPM
Immune cell
- basophil: 0 nTPM
- classical monocyte: 0 nTPM
- eosinophil: 0 nTPM
- gdT-cell: 0 nTPM
- intermediate monocyte: 0 nTPM
- MAIT T-cell: 0 nTPM
Brain region
- thalamus: 33 nTPM
- cerebral cortex: 29 nTPM
- pons: 21 nTPM
- white matter: 18 nTPM
- midbrain: 16 nTPM
- basal ganglia: 15 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about KCNH5.
Disease | AllUniProt
Conditions KCNH5 is implicated in, by any mechanism.
- Developmental and epileptic encephalopathy 112 (DEE112) MIM:620537
Disease | GeneticClinVar
12 pathogenic / likely-pathogenic of 854 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
- Developmental and epileptic encephalopathy 112
- Early-infantile DEE
- Inborn genetic diseases
- Metabolic crises, recurrent, with variable encephalomyopathic features and neurologic regression
Genetic constraint and essentialitygnomAD · DepMap
Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.
- gnomAD LOEUF (loss-of-function intolerance)
- 0.44
- gnomAD pLI
- 0.02
- gnomAD missense Z
- 2.51
- DepMap mean gene effect
- -0.09
- DepMap dependency class
- selective
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 3% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
- potassium ion transmembrane transport
- potassium ion transport
- regulation of G2/M transition of mitotic cell cycle
- regulation of membrane potential
Molecular functions
- calmodulin binding
- delayed rectifier potassium channel activity
- protein-containing complex binding
- transmembrane transporter binding
- voltage-gated potassium channel activity
Cellular components
Protein domainsUniProt · Pfam · InterPro
- PAS domain
- Cyclic nucleotide-binding domain
- PAS-associated, C-terminal
- PAC motif
- Potassium channel, voltage-dependent, EAG/ELK/ERG-like
- Potassium channel, voltage-dependent, EAG
- Ion transport domain
- RmlC-like jelly roll fold
- Cyclic nucleotide-binding domain superfamily
- PAS domain superfamily
- Potassium channel, voltage-dependent, EAG/ELK/ERG-like, animal-type
- Cyclic nucleotide-binding domain
- Ion transport protein
- PAS domain
KeywordsUniProt
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads KCNH5 as an antibody target. Whether an autoantibody or antibody against KCNH5 could matter depends on whether native KCNH5 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
KCNH5 is annotated at the cell surface, where native KCNH5 is exposed to circulating antibodies and is a prime autoantibody target that could block, deplete, or overstimulate it.
Annotation status
The present source text does not explicitly label KCNH5 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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