• Gene id: 23416

Gene Summary

• Gene Symbol: KCNH3   Gene   UCSC   Ensembl
• Aliases: BEC1, ELK2, Kv12.2
• Gene name: potassium voltage-gated channel subfamily H member 3
• Alternate names: potassium voltage-gated channel subfamily H member 3, ELK channel 2, brain-specific eag-like channel 1, ether-a-go-go K(+) channel family member, ether-a-go-go-like potassium channel 2, potassium channel, voltage gated eag related subfamily H, member 3, potassi,
• Gene location: 12q13.12 (49538540: 49558336)     Exons: 16     NC_000012.12
• Gene summary(Entrez): 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
• OMIM: 604527

Protein Summary

• Protein general information: Q9ULD8  
  • Name: Potassium voltage gated channel subfamily H member 3 (Brain specific eag like channel 1) (BEC1) (Ether a go go like potassium channel 2) (ELK channel 2) (ELK2) (Voltage gated potassium channel subunit Kv12.2)
  • Length: 1083  
  • Mass: 117129
  • Tissue specificity: Detected only in brain, in particular in the telencephalon. Detected in the cerebral cortex, occipital pole, frontal and temporal lobe, putamen, amygdala, hippocampus and caudate nucleus.
• Sequence:

  MPAMRGLLAPQNTFLDTIATRFDGTHSNFVLGNAQVAGLFPVVYCSDGFCDLTGFSRAEVMQRGCACSFLYGPDT
  SELVRQQIRKALDEHKEFKAELILYRKSGLPFWCLLDVIPIKNEKGEVALFLVSHKDISETKNRGGPDRWKETGG
  GRRRYGRARSKGFNANRRRSRAVLYHLSGHLQKQPKGKHKLNKGVFGEKPNLPEYKVAAIRKSPFILLHCGALRA
  TWDGFILLATLYVAVTVPYSVCVSTAREPSAARGPPSVCDLAVEVLFILDIVLNFRTTFVSKSGQVVFAPKSICL
  HYVTTWFLLDVIAALPFDLLHAFKVNVYFGAHLLKTVRLLRLLRLLPRLDRYSQYSAVVLTLLMAVFALLAHWVA
  CVWFYIGQREIESSESELPEIGWLQELARRLETPYYLVGRRPAGGNSSGQSDNCSSSSEANGTGLELLGGPSLRS
  AYITSLYFALSSLTSVGFGNVSANTDTEKIFSICTMLIGALMHAVVFGNVTAIIQRMYARRFLYHSRTRDLRDYI
  RIHRIPKPLKQRMLEYFQATWAVNNGIDTTELLQSLPDELRADIAMHLHKEVLQLPLFEAASRGCLRALSLALRP
  AFCTPGEYLIHQGDALQALYFVCSGSMEVLKGGTVLAILGKGDLIGCELPRREQVVKANADVKGLTYCVLQCLQL
  AGLHDSLALYPEFAPRFSRGLRGELSYNLGAGGGSAEVDTSSLSGDNTLMSTLEEKETDGEQGPTVSPAPADEPS
  SPLLSPGCTSSSSAAKLLSPRRTAPRPRLGGRGRPGRAGALKAEAGPSAPPRALEGLRLPPMPWNVPPDLSPRVV
  DGIEDGCGSDQPKFSFRVGQSGPECSSSPSPGPESGLLTVPHGPSEARNTDTLDKLRQAVTELSEQVLQMREGLQ
  SLRQAVQLVLAPHREGPCPRASGEGPCPASTSGLLQPLCVDTGASSYCLQPPAGSVLSGTWPHPRPGPPPLMAPW
  PWGPPASQSSPWPRATAFWTSTSDSEPPASGDLCSEPSTPASPPPSEEGARTGPAEPVSQAEATSTGEPPPGSGG
  LALPWDPHSLEMVLIGCHGSGTVQWTQEEGTGV

• Structural information:
  • Protein Domains: (18..9-)
    (/note="PAS-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00140-)
    (93..14-)
    (/note="PAC-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00141"-)
  • Interpro: IPR018490  IPR000595  IPR005821  IPR003938  IPR003950   IPR001610  IPR000014  IPR000700  IPR035965  IPR014710  
  • Prosite: PS50042 PS50113 PS50112
  • CDD: cd00038 cd00130
  • STRING: ENSP00000257981
• Other Databases: GeneCards:  KCNH3  Malacards:  KCNH3

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0071805	potassium ion transmembrane transport	IBA	biological process
GO:0042391	regulation of membrane potential	IBA	biological process
GO:0005887	integral component of plasma membrane	IBA	cellular component
GO:0005249	voltage-gated potassium channel activity	IBA	molecular function
GO:0005216	ion channel activity	IEA	molecular function
GO:0005249	voltage-gated potassium channel activity	IEA	molecular function
GO:0006811	ion transport	IEA	biological process
GO:0006813	potassium ion transport	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0055085	transmembrane transport	IEA	biological process
GO:0005267	potassium channel activity	IEA	molecular function
GO:0005244	voltage-gated ion channel activity	IEA	molecular function
GO:0034765	regulation of ion transmembrane transport	IEA	biological process
GO:0006811	ion transport	IEA	biological process
GO:0006813	potassium ion transport	IEA	biological process
GO:0016021	integral component of membrane	IEA	cellular component
GO:0071805	potassium ion transmembrane transport	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0016020	membrane	IEA	cellular component
GO:0005249	voltage-gated potassium channel activity	TAS	molecular function
GO:0016021	integral component of membrane	NAS	cellular component
GO:0006813	potassium ion transport	TAS	biological process

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq