KCNH8
Voltage-gated delayed rectifier potassium channel KCNH8
Also known as: elk3, KCNH8_HUMAN, Kv12.1
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- Q96L42
- Gene
- KCNH8
- Ensembl
- ENSG00000183960
- Chromosome
- 3
- Canonical length
- 1107 aa
- Protein class
- Predicted membrane proteins, Voltage-gated ion channels
- Subcellular location
- Plasma membrane
OverviewNCBI Gene
Voltage-gated potassium (Kv) channels represent the most complex class of voltage-gated ion channels from both functional and structural standpoints. Their diverse functions include regulating neurotransmitter release, heart rate, insulin secretion, neuronal excitability, epithelial electrolyte transport, smooth muscle contraction, and cell volume. This gene encodes a member of the potassium channel, voltage-gated, subfamily H. This member is a pore-forming (alpha) subunit. [provided by RefSeq, Jul 2008]
Canonical amino-acid sequenceUniProt
1107 residues, UniProt reviewed canonical sequence.
>Q96L42|KCNH8
1 MPVMKGLLAP QNTFLDTIAT RFDGTHSNFI LANAQVAKGF PIVYCSDGFC ELAGFARTEV
61 MQKSCSCKFL FGVETNEQLM LQIEKSLEEK TEFKGEIMFY KKNGSPFWCL LDIVPIKNEK
121 GDVVLFLASF KDITDTKVKI TPEDKKEDKV KGRSRAGTHF DSARRRSRAV LYHISGHLQR
181 REKNKLKINN NVFVDKPAFP EYKVSDAKKS KFILLHFSTF KAGWDWLILL ATFYVAVTVP
241 YNVCFIGNDD LSTTRSTTVS DIAVEILFII DIILNFRTTY VSKSGQVIFE ARSICIHYVT
301 TWFIIDLIAA LPFDLLYAFN VTVVSLVHLL KTVRLLRLLR LLQKLDRYSQ HSTIVLTLLM
361 SMFALLAHWM ACIWYVIGKM EREDNSLLKW EVGWLHELGK RLESPYYGNN TLGGPSIRSA
421 YIAALYFTLS SLTSVGFGNV SANTDAEKIF SICTMLIGAL MHALVFGNVT AIIQRMYSRW
481 SLYHTRTKDL KDFIRVHHLP QQLKQRMLEY FQTTWSVNNG IDSNELLKDF PDELRSDITM
541 HLNKEILQLS LFECASRGCL RSLSLHIKTS FCAPGEYLLR QGDALQAIYF VCSGSMEVLK
601 DSMVLAILGK GDLIGANLSI KDQVIKTNAD VKALTYCDLQ CIILKGLFEV LDLYPEYAHK
661 FVEDIQHDLT YNLREGHESD VISRLSNKSM VSQSEPKGNG NINKRLPSIV EDEEEEEEGE
721 EEEAVSLSPI CTRGSSSRNK KVGSNKAYLG LSLKQLASGT VPFHSPIRVS RSNSPKTKQE
781 IDPPNHNKRK EKNLKLQLST LNNAGPPDLS PRIVDGIEDG NSSEESQTFD FGSERIRSEP
841 RISPPLGDPE IGAAVLFIKA EETKQQINKL NSEVTTLTQE VSQLGKDMRN VIQLLENVLS
901 PQQPSRFCSL HSTSVCPSRE SLQTRTSWSA HQPCLHLQTG GAAYTQAQLC SSNITSDIWS
961 VDPSSVGSSP QRTGAHEQNP ADSELYHSPS LDYSPSHYQV VQEGHLQFLR CISPHSDSTL
1021 TPLQSISATL SSSVCSSSET SLHLVLPSRS EEGSFSQGTV SSFSLENLPG SWNQEGMASA
1081 STKPLENLPL EVVTSTAEVK DNKAINVLocalizationUniProt · AlphaFold · HPA
Whether an antibody against KCNH8 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)
- 0.47
- Highest tissue expression
- 11 nTPM
Expression across tissuesHPA
Tissue
- pituitary gland: 11 nTPM
- midbrain: 10 nTPM
- hippocampal formation: 10 nTPM
- basal ganglia: 8.6 nTPM
- spinal cord: 7.9 nTPM
- amygdala: 6.6 nTPM
Single-cell type
- somatotrophs: 1,042 nCPM
- oligodendrocytes: 1,013 nCPM
- lactotrophs: 886 nCPM
- thyrotrophs: 746 nCPM
- adrenal medulla cells: 511 nCPM
- oligodendrocyte progenitor cells: 436 nCPM
Immune cell
- naive B-cell: 1.4 nTPM
- memory B-cell: 0.6 nTPM
- plasmacytoid DC: 0.3 nTPM
- naive CD4 T-cell: 0.1 nTPM
- basophil: 0 nTPM
- classical monocyte: 0 nTPM
Brain region
- white matter: 27 nTPM
- basal ganglia: 20 nTPM
- thalamus: 15 nTPM
- cerebral cortex: 14 nTPM
- hypothalamus: 13 nTPM
- midbrain: 13 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about KCNH8.
Disease | GeneticClinVar
1 pathogenic / likely-pathogenic of 143 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
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)
- 0.67
- gnomAD pLI
- 0
- gnomAD missense Z
- 1.2
- DepMap mean gene effect
- 0.18
- DepMap dependency class
- none
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
Molecular functions
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, ELK
- 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 KCNH8 as an antibody target. Whether an autoantibody or antibody against KCNH8 could matter depends on whether native KCNH8 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
KCNH8 is annotated at the cell surface, where native KCNH8 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 KCNH8 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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