Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	131096
Gene name	Potassium voltage-gated channel subfamily H member 8
Gene symbol	KCNH8
Synonyms (NCBI Gene)	ELKELK1Kv12.1elk3hElk-1
Chromosome	3
Chromosome location	3p24.3
Summary	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, neuro

Show/Hide all (35)

miRTarBase ID	miRNA	Experiments	Reference
MIRT019154	hsa-miR-335-5p	Microarray	18185580
MIRT1081119	hsa-miR-4760-5p	CLIP-seq
MIRT2020101	hsa-miR-221	CLIP-seq
MIRT2020102	hsa-miR-222	CLIP-seq
MIRT2020103	hsa-miR-3120-3p	CLIP-seq
MIRT2020104	hsa-miR-3689d	CLIP-seq
MIRT2020105	hsa-miR-4802-5p	CLIP-seq
MIRT2020106	hsa-miR-548v	CLIP-seq
MIRT2251916	hsa-miR-1302	CLIP-seq
MIRT2020101	hsa-miR-221	CLIP-seq
MIRT2020102	hsa-miR-222	CLIP-seq
MIRT2020103	hsa-miR-3120-3p	CLIP-seq
MIRT2020104	hsa-miR-3689d	CLIP-seq
MIRT2251917	hsa-miR-4298	CLIP-seq
MIRT2251918	hsa-miR-4717-3p	CLIP-seq
MIRT2251919	hsa-miR-4719	CLIP-seq
MIRT2020105	hsa-miR-4802-5p	CLIP-seq
MIRT2020106	hsa-miR-548v	CLIP-seq
MIRT2251920	hsa-miR-876-3p	CLIP-seq
MIRT2389629	hsa-miR-1264	CLIP-seq
MIRT2389630	hsa-miR-136	CLIP-seq
MIRT2389631	hsa-miR-2110	CLIP-seq
MIRT2389632	hsa-miR-3150a-3p	CLIP-seq
MIRT2389633	hsa-miR-4260	CLIP-seq
MIRT2389634	hsa-miR-4450	CLIP-seq
MIRT2452184	hsa-miR-1276	CLIP-seq
MIRT2452185	hsa-miR-129-5p	CLIP-seq
MIRT2452186	hsa-miR-146a	CLIP-seq
MIRT2452187	hsa-miR-146b-5p	CLIP-seq
MIRT2452188	hsa-miR-2113	CLIP-seq
MIRT2452189	hsa-miR-3148	CLIP-seq
MIRT2452190	hsa-miR-3165	CLIP-seq
MIRT2452191	hsa-miR-3925-5p	CLIP-seq
MIRT2452192	hsa-miR-4311	CLIP-seq
MIRT2452193	hsa-miR-583	CLIP-seq

Show/Hide all (19)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005216	Function	Monoatomic ion channel activity	IEA
GO:0005249	Function	Voltage-gated potassium channel activity	IBA
GO:0005249	Function	Voltage-gated potassium channel activity	IEA
GO:0005251	Function	Delayed rectifier potassium channel activity	IDA	11897058
GO:0005251	Function	Delayed rectifier potassium channel activity	IEA
GO:0005267	Function	Potassium channel activity	IEA
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IDA
GO:0005886	Component	Plasma membrane	TAS
GO:0006811	Process	Monoatomic ion transport	IEA
GO:0006813	Process	Potassium ion transport	IDA	11897058
GO:0006813	Process	Potassium ion transport	IEA
GO:0016020	Component	Membrane	IEA
GO:0034220	Process	Monoatomic ion transmembrane transport	IEA
GO:0034702	Component	Monoatomic ion channel complex	IEA
GO:0042391	Process	Regulation of membrane potential	IBA
GO:0055085	Process	Transmembrane transport	IEA
GO:0071805	Process	Potassium ion transmembrane transport	IBA
GO:0071805	Process	Potassium ion transmembrane transport	IEA

MIM	HGNC	e!Ensembl
608260	18864	ENSG00000183960

Q96L42

Protein name

Voltage-gated delayed rectifier potassium channel KCNH8 (ELK1) (hElk-1) (Ether-a-go-go-like potassium channel 3) (ELK channel 3) (ELK3) (Potassium voltage-gated channel subfamily H member 8) (Voltage-gated potassium channel subunit Kv12.1)

Protein function

Pore-forming (alpha) subunit of a voltage-gated delayed rectifier potassium channel that mediates outward-rectifying potassium currents (PubMed:11897058). Elicits a slowly activating, non-inactivating and slowly deactivation outwards potassium c

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF13426	PAS_9	29 → 135	PAS domain	Domain
PF00520	Ion_trans	221 → 481	Ion transport protein	Family
PF00027	cNMP_binding	570 → 654	Cyclic nucleotide-binding domain	Domain

Tissue specificity

TISSUE SPECIFICITY: Primarily expressed in the nervous system. {ECO:0000269|PubMed:12890647}.

Sequence

MPVMKGLLAPQNTFLDTIATRFDGTHSNFILANAQVAKGFPIVYCSDGFCELAGFARTEV
MQKSCSCKFLFGVETNEQLMLQIEKSLEEKTEFKGEIMFYKKNGSPFWCLLDIVPIKNEK
GDVVLFLASFKDITDTKVKITPEDKKEDKVKGRSRAGTHFDSARRRSRAVLYHISGHLQR
REKNKLKINNNVFVDKPAFPEYKVSDAKKSKFILLHFSTFKAGWDWLILLATFYVAVTVP
YNVCFIGNDDLSTTRSTTVSDIAVEILFIIDIILNFRTTYVSKSGQVIFEARSICIHYVT
TWFIIDLIAALPFDLLYAFNVTVVSLVHLLKTVRLLRLLRLLQKLDRYSQHSTIVLTLLM
SMFALLAHWMACIWYVIGKMEREDNSLLKWEVGWLHELGKRLESPYYGNNTLGGPSIRSA
YIAALYFTLSSLTSVGFGNVSANTDAEKIFSICTMLIGALMHALVFGNVTAIIQRMYSRW
SLYHTRTKDLKDFIRVHHLPQQLKQRMLEYFQTTWSVNNGIDSNELLKDFPDELRSDITM
HLNKEILQLSLFECASRGCLRSLSLHIKTSFCAPGEYLLRQGDALQAIYFVCSGSMEVLK
DSMVLAILGKGDLIGANLSIKDQVIKTNADVKALTYCDLQCIILKGLFEVLDLYPEYAHK
FVEDIQHDLTYNLREGHESDVISRLSNKSMVSQSEPKGNGNINKRLPSIVEDEEEEEEGE
EEEAVSLSPICTRGSSSRNKKVGSNKAYLGLSLKQLASGTVPFHSPIRVSRSNSPKTKQE
IDPPNHNKRKEKNLKLQLSTLNNAGPPDLSPRIVDGIEDGNSSEESQTFDFGSERIRSEP
RISPPLGDPEIGAAVLFIKAEETKQQINKLNSEVTTLTQEVSQLGKDMRNVIQLLENVLS
PQQPSRFCSLHSTSVCPSRESLQTRTSWSAHQPCLHLQTGGAAYTQAQLCSSNITSDIWS
VDPSSVGSSPQRTGAHEQNPADSELYHSPSLDYSPSHYQVVQEGHLQFLRCISPHSDSTL
TPLQSISATLSSSVCSSSETSLHLVLPSRSEEGSFSQGTVSSFSLENLPGSWNQEGMASA
STKPLENLPLEVVTSTAEVKDNKAINV

Sequence length

1107

Interactions

View interactions

	Reactome
			Voltage gated Potassium channels

Show/Hide Causal Diseases (1)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Action myoclonus-renal failure syndrome	Likely pathogenic	rs565744148	RCV003126210

Show/Hide Unknown Diseases (2)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Lung cancer	Benign	rs145641641	RCV005905213
Ovarian serous cystadenocarcinoma	Benign	rs145641641	RCV005905212

Show/Hide Text Mining Associations (2)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Carcinoma Non Small Cell Lung	Associate	19945765
Lymphoma T Cell Peripheral	Associate	26536348

KCNH8 (potassium voltage-gated channel subfamily H member 8)