KCNH3 (potassium voltage-gated channel subfamily H member 3)

Gene

• Entrez ID: 23416
• Gene name: Potassium voltage-gated channel subfamily H member 3
• Gene symbol: KCNH3
• Synonyms (NCBI Gene): BEC1, ELK2, Kv12.2
• Chromosome: 12
• Chromosome location: 12q13.12
• Summary: The protein encoded by this gene is a voltage-gated potassium channel alpha subunit predominantly expressed in the forebrain. Studies in mice have found that cognitive function increases when this gene is knocked out. In humans, the encoded protein has be

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT016741	hsa-miR-335-5p	Microarray	18185580
MIRT2020098	hsa-miR-1909	CLIP-seq
MIRT2020099	hsa-miR-3121-5p	CLIP-seq
MIRT2020100	hsa-miR-4688	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005216	Function	Monoatomic ion channel activity	IEA
GO:0005242	Function	Inward rectifier potassium channel activity	IDA	10455180
GO:0005242	Function	Inward rectifier potassium 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	TAS	10455180
GO:0005267	Function	Potassium channel activity	IEA
GO:0005515	Function	Protein binding	IPI	20638388
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	TAS
GO:0006811	Process	Monoatomic ion transport	IEA
GO:0006813	Process	Potassium ion transport	IDA	10455180
GO:0006813	Process	Potassium ion transport	IEA
GO:0006813	Process	Potassium ion transport	TAS	10455180
GO:0016020	Component	Membrane	IEA
GO:0016020	Component	Membrane	NAS	10455180
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

Other IDs

• MIM: 604527
• HGNC: 6252
• e!Ensembl: ENSG00000135519

Protein

• UniProt ID: Q9ULD8
• Protein name: Voltage-gated inwardly rectifying potassium channel KCNH3 (Brain-specific eag-like channel 1) (BEC1) (Ether-a-go-go-like potassium channel 2) (ELK channel 2) (ELK2) (Potassium voltage-gated channel subfamily H member 3) (Voltage-gated potassium channel su
• Protein function: Pore-forming (alpha) subunit of a voltage-gated inwardly rectifying potassium channel (PubMed:10455180). Charactherized by a fast rate of activation during depolarization followed by a rapid inactivation at much more depolarized value causing in
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF13426	PAS_9	30 → 135	PAS domain	Domain
  PF00520	Ion_trans	224 → 512	Ion transport protein	Family
  PF00027	cNMP_binding	601 → 683	Cyclic nucleotide-binding domain	Domain

• Tissue specificity: TISSUE SPECIFICITY: Detected only in brain, in particular in the telencephalon (PubMed:10455180). Detected in the cerebral cortex, occipital pole, frontal and temporal lobe, putamen, amygdala, hippocampus and caudate nucleus (PubMed:10455180). {ECO:000026
• Sequence:

  MPAMRGLLAPQNTFLDTIATRFDGTHSNFVLGNAQVAGLFPVVYCSDGFCDLTGFSRAEV
  MQRGCACSFLYGPDTSELVRQQIRKALDEHKEFKAELILYRKSGLPFWCLLDVIPIKNEK
  GEVALFLVSHKDISETKNRGGPDRWKETGGGRRRYGRARSKGFNANRRRSRAVLYHLSGH
  LQKQPKGKHKLNKGVFGEKPNLPEYKVAAIRKSPFILLHCGALRATWDGFILLATLYVAV
  TVPYSVCVSTAREPSAARGPPSVCDLAVEVLFILDIVLNFRTTFVSKSGQVVFAPKSICL
  HYVTTWFLLDVIAALPFDLLHAFKVNVYFGAHLLKTVRLLRLLRLLPRLDRYSQYSAVVL
  TLLMAVFALLAHWVACVWFYIGQREIESSESELPEIGWLQELARRLETPYYLVGRRPAGG
  NSSGQSDNCSSSSEANGTGLELLGGPSLRSAYITSLYFALSSLTSVGFGNVSANTDTEKI
  FSICTMLIGALMHAVVFGNVTAIIQRMYARRFLYHSRTRDLRDYIRIHRIPKPLKQRMLE
  YFQATWAVNNGIDTTELLQSLPDELRADIAMHLHKEVLQLPLFEAASRGCLRALSLALRP
  AFCTPGEYLIHQGDALQALYFVCSGSMEVLKGGTVLAILGKGDLIGCELPRREQVVKANA
  DVKGLTYCVLQCLQLAGLHDSLALYPEFAPRFSRGLRGELSYNLGAGGGSAEVDTSSLSG
  DNTLMSTLEEKETDGEQGPTVSPAPADEPSSPLLSPGCTSSSSAAKLLSPRRTAPRPRLG
  GRGRPGRAGALKAEAGPSAPPRALEGLRLPPMPWNVPPDLSPRVVDGIEDGCGSDQPKFS
  FRVGQSGPECSSSPSPGPESGLLTVPHGPSEARNTDTLDKLRQAVTELSEQVLQMREGLQ
  SLRQAVQLVLAPHREGPCPRASGEGPCPASTSGLLQPLCVDTGASSYCLQPPAGSVLSGT
  WPHPRPGPPPLMAPWPWGPPASQSSPWPRATAFWTSTSDSEPPASGDLCSEPSTPASPPP
  SEEGARTGPAEPVSQAEATSTGEPPPGSGGLALPWDPHSLEMVLIGCHGSGTVQWTQEEG
  TGV

• Sequence length: 1083

Pathways

Reactome:

Voltage gated Potassium channels

Associated diseases

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)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
ATTENTION DEFICIT HYPERACTIVITY DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEURODEVELOPMENTAL DISORDER	—	GenCC	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEURODEVELOPMENTAL DISORDERS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PAPILLARY RENAL CELL CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TOURETTE SYNDROME	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Relationship Type	References	Evidence Score
Developmental Disabilities	Associate	37501076	★☆☆☆☆ Found in Text Mining only
Ectodermal Dysplasia	Associate	31578829	★☆☆☆☆ Found in Text Mining only
Leukemia	Associate	11893742	★☆☆☆☆ Found in Text Mining only
Microcephaly	Associate	31578829, 37501076	★☆☆☆☆ Found in Text Mining only
Rumination Syndrome	Associate	34959947	★☆☆☆☆ Found in Text Mining only
Sjogren's Syndrome	Associate	11893742	★☆☆☆☆ Found in Text Mining only