• Gene id: 81033

Gene Summary

• Gene Symbol: KCNH6   Gene   UCSC   Ensembl
• Aliases: ERG-2, ERG2, HERG2, Kv11.2, hERG-2
• Gene name: potassium voltage-gated channel subfamily H member 6
• Alternate names: potassium voltage-gated channel subfamily H member 6, eag-related gene member 2, ether-a-go-go-related protein 2, potassium channel, voltage gated eag related subfamily H, member 6, potassium voltage-gated channel, subfamily H (eag-related), member 6, voltage-,
• Gene location: 17q23.3 (5684758: 5765778)     Exons: 28     NC_000010.11
• 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: 608168

Protein Summary

• Protein general information: Q9H252  
  • Name: Potassium voltage gated channel subfamily H member 6 (Ether a go go related gene potassium channel 2) (ERG 2) (Eag related protein 2) (Ether a go go related protein 2) (hERG 2) (hERG2) (Voltage gated potassium channel subunit Kv11.2)
  • Length: 994  
  • Mass: 109925
  • Tissue specificity: Expressed in prolactin-secreting adenomas. {ECO
• Sequence:

  MPVRRGHVAPQNTYLDTIIRKFEGQSRKFLIANAQMENCAIIYCNDGFCELFGYSRVEVMQQPCTCDFLTGPNTP
  SSAVSRLAQALLGAEECKVDILYYRKDASSFRCLVDVVPVKNEDGAVIMFILNFEDLAQLLAKCSSRSLSQRLLS
  QSFLGSEGSHGRPGGPGPGTGRGKYRTISQIPQFTLNFVEFNLEKHRSSSTTEIEIIAPHKVVERTQNVTEKVTQ
  VLSLGADVLPEYKLQAPRIHRWTILHYSPFKAVWDWLILLLVIYTAVFTPYSAAFLLSDQDESRRGACSYTCSPL
  TVVDLIVDIMFVVDIVINFRTTYVNTNDEVVSHPRRIAVHYFKGWFLIDMVAAIPFDLLIFRTGSDETTTLIGLL
  KTARLLRLVRVARKLDRYSEYGAAVLFLLMCTFALIAHWLACIWYAIGNVERPYLEHKIGWLDSLGVQLGKRYNG
  SDPASGPSVQDKYVTALYFTFSSLTSVGFGNVSPNTNSEKVFSICVMLIGSLMYASIFGNVSAIIQRLYSGTARY
  HTQMLRVKEFIRFHQIPNPLRQRLEEYFQHAWSYTNGIDMNAVLKGFPECLQADICLHLHRALLQHCPAFSGAGK
  GCLRALAVKFKTTHAPPGDTLVHLGDVLSTLYFISRGSIEILRDDVVVAILGKNDIFGEPVSLHAQPGKSSADVR
  ALTYCDLHKIQRADLLEVLDMYPAFAESFWSKLEVTFNLRDAAGGLHSSPRQAPGSQDHQGFFLSDNQSGSPHEL
  GPQFPSKGYSLLGPGSQNSMGAGPCAPGHPDAAPPLSISDASGLWPELLQEMPPRHSPQSPQEDPDCWPLKLGSR
  LEQLQAQMNRLESRVSSDLSRILQLLQKPMPQGHASYILEAPASNDLALVPIASETTSPGPRLPQGFLPPAQTPS
  YGDLDDCSPKHRNSSPRMPHLAVATDKTLAPSSEQEQPEGLWPPLASPLHPLEVQGLICGPCFSSLPEHLGSVPK
  QLDFQRHGSDPGFAGSWGH

• Structural information:
  • Protein Domains: (41..7-)
    (/note="PAS-)
    (92..14-)
    (/note="PAC"-)
  • Interpro: IPR018490  IPR000595  IPR005821  IPR003938  IPR003967   IPR030172  IPR000014  IPR035965  IPR014710  IPR027359  
  • Prosite: PS50042
  • CDD: cd00038 cd00130
  • STRING: ENSP00000463533
• Other Databases: GeneCards:  KCNH6  Malacards:  KCNH6

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005249	voltage-gated potassium channel activity	IBA	molecular function
GO:0005887	integral component of plasma membrane	IBA	cellular component
GO:0042391	regulation of membrane potential	IBA	biological process
GO:0071805	potassium ion transmembrane transport	IBA	biological process
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:0016021	integral component of 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:0006813	potassium ion transport	IEA	biological process
GO:0006811	ion transport	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0034765	regulation of ion transmembrane transport	IEA	biological process
GO:0016021	integral component of membrane	IEA	cellular component
GO:0071805	potassium ion transmembrane transport	IEA	biological process
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)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq