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

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	27133
Gene name	Potassium voltage-gated channel subfamily H member 5
Gene symbol	KCNH5
Synonyms (NCBI Gene)	DEE112EAG2H-EAG2Kv10.2hEAG2
Chromosome	14
Chromosome location	14q23.2
Summary	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, noninactiva

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SNP ID	Visualize variation	Clinical significance	Consequence
rs587777164	C>T	Uncertain-significance, pathogenic	Coding sequence variant, missense variant

Show/Hide all (49)

miRTarBase ID	miRNA	Experiments	Reference
MIRT442127	hsa-miR-5582-3p	PAR-CLIP	22100165
MIRT442126	hsa-miR-4717-5p	PAR-CLIP	22100165
MIRT442125	hsa-miR-15a-3p	PAR-CLIP	22100165
MIRT442123	hsa-miR-1295b-3p	PAR-CLIP	22100165
MIRT442124	hsa-miR-1323	PAR-CLIP	22100165
MIRT442122	hsa-miR-548o-3p	PAR-CLIP	22100165
MIRT442121	hsa-miR-3926	PAR-CLIP	22100165
MIRT442120	hsa-miR-5704	PAR-CLIP	22100165
MIRT442119	hsa-miR-513c-5p	PAR-CLIP	22100165
MIRT442118	hsa-miR-514b-5p	PAR-CLIP	22100165
MIRT442127	hsa-miR-5582-3p	PAR-CLIP	22100165
MIRT442126	hsa-miR-4717-5p	PAR-CLIP	22100165
MIRT442125	hsa-miR-15a-3p	PAR-CLIP	22100165
MIRT442123	hsa-miR-1295b-3p	PAR-CLIP	22100165
MIRT442124	hsa-miR-1323	PAR-CLIP	22100165
MIRT442122	hsa-miR-548o-3p	PAR-CLIP	22100165
MIRT442121	hsa-miR-3926	PAR-CLIP	22100165
MIRT442120	hsa-miR-5704	PAR-CLIP	22100165
MIRT442119	hsa-miR-513c-5p	PAR-CLIP	22100165
MIRT442118	hsa-miR-514b-5p	PAR-CLIP	22100165
MIRT442127	hsa-miR-5582-3p	PAR-CLIP	22100165
MIRT442126	hsa-miR-4717-5p	PAR-CLIP	22100165
MIRT442125	hsa-miR-15a-3p	PAR-CLIP	22100165
MIRT442123	hsa-miR-1295b-3p	PAR-CLIP	22100165
MIRT442124	hsa-miR-1323	PAR-CLIP	22100165
MIRT442122	hsa-miR-548o-3p	PAR-CLIP	22100165
MIRT442121	hsa-miR-3926	PAR-CLIP	22100165
MIRT442120	hsa-miR-5704	PAR-CLIP	22100165
MIRT442119	hsa-miR-513c-5p	PAR-CLIP	22100165
MIRT442118	hsa-miR-514b-5p	PAR-CLIP	22100165
MIRT442127	hsa-miR-5582-3p	PAR-CLIP	22100165
MIRT442126	hsa-miR-4717-5p	PAR-CLIP	22100165
MIRT442125	hsa-miR-15a-3p	PAR-CLIP	22100165
MIRT442123	hsa-miR-1295b-3p	PAR-CLIP	22100165
MIRT442124	hsa-miR-1323	PAR-CLIP	22100165
MIRT442122	hsa-miR-548o-3p	PAR-CLIP	22100165
MIRT442121	hsa-miR-3926	PAR-CLIP	22100165
MIRT442120	hsa-miR-5704	PAR-CLIP	22100165
MIRT442119	hsa-miR-513c-5p	PAR-CLIP	22100165
MIRT442118	hsa-miR-514b-5p	PAR-CLIP	22100165
MIRT1081075	hsa-miR-1262	CLIP-seq
MIRT1081076	hsa-miR-198	CLIP-seq
MIRT1081077	hsa-miR-3657	CLIP-seq
MIRT1081078	hsa-miR-4476	CLIP-seq
MIRT1081079	hsa-miR-4506	CLIP-seq
MIRT1081080	hsa-miR-4669	CLIP-seq
MIRT1081081	hsa-miR-4701-3p	CLIP-seq
MIRT1081082	hsa-miR-4790-3p	CLIP-seq
MIRT1081083	hsa-miR-665	CLIP-seq

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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:0005249	Function	Voltage-gated potassium channel activity	IMP	24133262
GO:0005251	Function	Delayed rectifier potassium channel activity	IDA	11943152, 12135768, 24133262, 36928654
GO:0005251	Function	Delayed rectifier potassium channel activity	IEA
GO:0005267	Function	Potassium channel activity	IEA
GO:0005516	Function	Calmodulin binding	IEA
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	TAS
GO:0006811	Process	Monoatomic ion transport	IEA
GO:0006813	Process	Potassium ion transport	IDA	11943152, 12135768, 24133262, 36928654
GO:0006813	Process	Potassium ion transport	IEA
GO:0008076	Component	Voltage-gated potassium channel complex	IBA
GO:0008076	Component	Voltage-gated potassium channel complex	IDA	11943152, 12135768
GO:0008076	Component	Voltage-gated potassium channel complex	IEA
GO:0009986	Component	Cell surface	IDA	22855790
GO:0010389	Process	Regulation of G2/M transition of mitotic cell cycle	IDA	22855790
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:0044325	Function	Transmembrane transporter binding	IEA
GO:0044877	Function	Protein-containing complex binding	IEA
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
605716	6254	ENSG00000140015

Q8NCM2

Protein name

Voltage-gated delayed rectifier potassium channel KCNH5 (Ether-a-go-go potassium channel 2) (hEAG2) (Potassium voltage-gated channel subfamily H member 5) (Voltage-gated potassium channel subunit Kv10.2)

Protein 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:1213576

PDB

7YID , 7YIE , 7YIF , 7YIG , 7YIH , 7YIJ

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF13426	PAS_9	26 → 133	PAS domain	Domain
PF00520	Ion_trans	214 → 479	Ion transport protein	Family
PF00027	cNMP_binding	568 → 653	Cyclic nucleotide-binding domain	Domain

Tissue specificity

TISSUE SPECIFICITY: Detected in brain, skeletal muscle, heart, placenta, lung and liver, and at low levels in kidney.

Sequence

MPGGKRGLVAPQNTFLENIVRRSSESSFLLGNAQIVDWPVVYSNDGFCKLSGYHRADVMQ
KSSTCSFMYGELTDKKTIEKVRQTFDNYESNCFEVLLYKKNRTPVWFYMQIAPIRNEHEK
VVLFLCTFKDITLFKQPIEDDSTKGWTKFARLTRALTNSRSVLQQLTPMNKTEVVHKHSR
LAEVLQLGSDILPQYKQEAPKTPPHIILHYCAFKTTWDWVILILTFYTAIMVPYNVSFKT
KQNNIAWLVLDSVVDVIFLVDIVLNFHTTFVGPGGEVISDPKLIRMNYLKTWFVIDLLSC
LPYDIINAFENVDEGISSLFSSLKVVRLLRLGRVARKLDHYLEYGAAVLVLLVCVFGLVA
HWLACIWYSIGDYEVIDEVTNTIQIDSWLYQLALSIGTPYRYNTSAGIWEGGPSKDSLYV
SSLYFTMTSLTTIGFGNIAPTTDVEKMFSVAMMMVGSLLYATIFGNVTTIFQQMYANTNR
YHEMLNNVRDFLKLYQVPKGLSERVMDYIVSTWSMSKGIDTEKVLSICPKDMRADICVHL
NRKVFNEHPAFRLASDGCLRALAVEFQTIHCAPGDLIYHAGESVDALCFVVSGSLEVIQD
DEVVAILGKGDVFGDIFWKETTLAHACANVRALTYCDLHIIKREALLKVLDFYTAFANSF
SRNLTLTCNLRKRIIFRKISDVKKEEEERLRQKNEVTLSIPVDHPVRKLFQKFKQQKELR
NQGSTQGDPERNQLQVESRSLQNGASITGTSVVTVSQITPIQTSLAYVKTSESLKQNNRD
AMELKPNGGADQKCLKVNSPIRMKNGNGKGWLRLKNNMGAHEEKKEDWNNVTKAESMGLL
SEDPKSSDSENSVTKNPLRKTDSCDSGITKSDLRLDKAGEARSPLEHSPIQADAKHPFYP
IPEQALQTTLQEVKHELKEDIQLLSCRMTALEKQVAEILKILSEKSVPQASSPKSQMPLQ
VPPQIPCQDIFSVSRPESPESDKDEIHF

Sequence length

988

Interactions

View interactions

	Reactome
			Voltage gated Potassium channels

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Causal Diseases (3)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Developmental and epileptic encephalopathy	Pathogenic; Likely pathogenic	rs1383017734, rs587777164, rs1164997707	RCV001346092 RCV000701370 RCV001977026 RCV003754501	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Developmental and epileptic encephalopathy 112	Pathogenic; Likely pathogenic	rs1383017734, rs587777164, rs2502867311	RCV004762112 RCV003448263 RCV003334451	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Developmental and epileptic encephalopathy, 12	Pathogenic	rs1383017734, rs587777164, rs2502654819, rs1294653855, rs2502867213	RCV003339604 RCV003334350 RCV003334361 RCV003334363 RCV003334364	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Show/Hide Unknown Diseases (12)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
ALZHEIMER DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ANEURYSM	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AORTIC ANEURYSM	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLOR VISION DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONOTRUNCAL HEART MALFORMATIONS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 12	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GASTROESOPHAGEAL REFLUX DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
KCNH5-related disorder	Benign; Likely benign; Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MAJOR DEPRESSIVE DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
METABOLIC SYNDROME	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NON-SPECIFIC EARLY-ONSET EPILEPTIC ENCEPHALOPATHY	—	Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (18)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Adult Medulloblastoma	Medulloblastoma	BEFREE	22855790		★★★★★ ★☆☆☆☆ Found in Text Mining only
Autism Spectrum Disorder	Autism	Pubtator	36068614	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Autistic Disorder	Autism	Pubtator	24133262, 36068614	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Brain Diseases	Brain disease	Pubtator	24133262	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Childhood Medulloblastoma	Medulloblastoma	BEFREE	22855790		★★★★★ ★☆☆☆☆ Found in Text Mining only
Epilepsies Partial	Partial epilepsy	Pubtator	36307226	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	BEFREE	23647072		★★★★★ ★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	GENOMICS_ENGLAND_DG	23647072		★★★★★ ★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	Pubtator	24133262, 36068614, 36307226	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Epileptic Encephalopathy Early Infantile 3	Developmental and epileptic encephalopathy	Pubtator	36307226	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver Cirrhosis Biliary	Liver cirrhosis	Pubtator	33833419	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Medulloblastoma	Medulloblastoma	BEFREE	22855790		★★★★★ ★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	24759919		★★★★★ ★☆☆☆☆ Found in Text Mining only
Melanoma	Melanoma	Pubtator	24759919	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Movement Disorders	Movement disorder	Pubtator	36307226	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	22855790		★★★★★ ★☆☆☆☆ Found in Text Mining only
Seizures	Seizures	Pubtator	36307226	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	BEFREE	19945765		★★★★★ ★☆☆☆☆ Found in Text Mining only

KCNH5 (potassium voltage-gated channel subfamily H member 5)