• Gene id: 23415

Gene Summary

• Gene Symbol: KCNH4   Gene   UCSC   Ensembl
• Aliases: BEC2, ELK1, Kv12.3
• Gene name: potassium voltage-gated channel subfamily H member 4
• Alternate names: potassium voltage-gated channel subfamily H member 4, ELK channel 1, brain-specific eag-like channel 2, ether-a-go-go K(+) channel family member, ether-a-go-go-like potassium channel 1, potassium channel, voltage gated eag related subfamily H, member 4, potassi,
• Gene location: 17q21.2 (67521130: 67530145)     Exons: 2     NC_000015.10
• Gene summary(Entrez): 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
• OMIM: 604528

Protein Summary

• Protein general information: Q9UQ05  
  • Name: Potassium voltage gated channel subfamily H member 4 (Brain specific eag like channel 2) (BEC2) (Ether a go go like potassium channel 1) (ELK channel 1) (ELK1) (Voltage gated potassium channel subunit Kv12.3)
  • Length: 1017  
  • Mass: 111693
  • Tissue specificity: Detected only in brain, in particular in the telencephalon. Detected in putamen and caudate nucleus, and at lower levels in cerebral cortex, occipital and hippocampus.
• Sequence:

  MPVMKGLLAPQNTFLDTIATRFDGTHSNFLLANAQGTRGFPIVYCSDGFCELTGYGRTEVMQKTCSCRFLYGPET
  SEPALQRLHKALEGHQEHRAEICFYRKDGSAFWCLLDMMPIKNEMGEVVLFLFSFKDITQSGSPGLGPQGGRGDS
  NHENSLGRRGATWKFRSARRRSRTVLHRLTGHFGRRGQGGMKANNNVFEPKPSVPEYKVASVGGSRCLLLHYSVS
  KAIWDGLILLATFYVAVTVPYNVCFSGDDDTPITSRHTLVSDIAVEMLFILDIILNFRTTYVSQSGQVISAPRSI
  GLHYLATWFFIDLIAALPFDLLYIFNITVTSLVHLLKTVRLLRLLRLLQKLERYSQCSAVVLTLLMSVFALLAHW
  MACIWYVIGRREMEANDPLLWDIGWLHELGKRLEVPYVNGSVGGPSRRSAYIAALYFTLSSLTSVGFGNVCANTD
  AEKIFSICTMLIGALMHAVVFGNVTAIIQRMYSRRSLYHSRMKDLKDFIRVHRLPRPLKQRMLEYFQTTWAVNSG
  IDANELLRDFPDELRADIAMHLNREILQLPLFGAASRGCLRALSLHIKTSFCAPGEYLLRRGDALQAHYYVCSGS
  LEVLRDNMVLAILGKGDLIGADIPEPGQEPGLGADPNFVLKTSADVKALTYCGLQQLSSRGLAEVLRLYPEYGAA
  FRAGLPRDLTFNLRQGSDTSGLSRFSRSPRLSQPRSESLGSSSDKTLPSITEAESGAEPGGGPRPRRPLLLPNLS
  PARPRGSLVSLLGEELPPFSALVSSPSLSPSLSPALAGQGHSASPHGPPRCSAAWKPPQLLIPPLGTFGPPDLSP
  RIVDGIEDSGSTAEAPSFRFSRRPELPRPRSQAPPTGTRPSPELASEAEEVKEKVCRLNQEISRLNQEVSQLSRE
  LRHIMGLLQARLGPPGHPAGSAWTPDPPCPQLRPPCLSPCASRPPPSLQDTTLAEVHCPASVGTMETGTALLDLR
  PSILPPYPSEPDPLGPSPVPEASPPTPSLLRHSFQSRSDTFH

• Structural information:
  • Protein Domains: (14..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  IPR027359  
  • Prosite: PS50042 PS50113 PS50112
  • CDD: cd00038 cd00130
  • STRING: ENSP00000264661
• Other Databases: GeneCards:  KCNH4  Malacards:  KCNH4

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:0071805	potassium ion transmembrane transport	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0006813	potassium ion transport	IEA	biological process
GO:0006811	ion transport	IEA	biological process
GO:0034765	regulation of ion transmembrane transport	IEA	biological process
GO:0016021	integral component of membrane	IEA	cellular component
GO:0005249	voltage-gated potassium channel activity	TAS	molecular function
GO:0006813	potassium ion transport	TAS	biological process
GO:0008076	voltage-gated potassium channel complex	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0016020	membrane	IEA	cellular component

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)
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)