• Gene id: 90134

Gene Summary

• Gene Symbol: KCNH7   Gene   UCSC   Ensembl
• Aliases: ERG3, HERG3, Kv11.3
• Gene name: potassium voltage-gated channel subfamily H member 7
• Alternate names: potassium voltage-gated channel subfamily H member 7, ERG-3, eag-related protein 3, ether-a-go-go-related gene potassium channel 3, ether-a-go-go-related protein 3, potassium channel subunit HERG-3, potassium channel, voltage gated eag related subfamily H, memb,
• Gene location: 2q24.2 (162838816: 162371406)     Exons: 17     NC_000002.12
• 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: 605679

Protein Summary

• Protein general information: Q9NS40  
  • Name: Potassium voltage gated channel subfamily H member 7 (Ether a go go related gene potassium channel 3) (ERG 3) (Eag related protein 3) (Ether a go go related protein 3) (hERG 3) (Voltage gated potassium channel subunit Kv11.3)
  • Length: 1196  
  • Mass: 135000
  • Tissue specificity: Expressed in prolactin-secreting adenomas. {ECO
• Sequence:

  MPVRRGHVAPQNTFLGTIIRKFEGQNKKFIIANARVQNCAIIYCNDGFCEMTGFSRPDVMQKPCTCDFLHGPETK
  RHDIAQIAQALLGSEERKVEVTYYHKNGSTFICNTHIIPVKNQEGVAMMFIINFEYVTDNENAATPERVNPILPI
  KTVNRKFFGFKFPGLRVLTYRKQSLPQEDPDVVVIDSSKHSDDSVAMKHFKSPTKESCSPSEADDTKALIQPSKC
  SPLVNISGPLDHSSPKRQWDRLYPDMLQSSSQLSHSRSRESLCSIRRASSVHDIEGFGVHPKNIFRDRHASEDNG
  RNVKGPFNHIKSSLLGSTSDSNLNKYSTINKIPQLTLNFSEVKTEKKNSSPPSSDKTIIAPKVKDRTHNVTEKVT
  QVLSLGADVLPEYKLQTPRINKFTILHYSPFKAVWDWLILLLVIYTAIFTPYSAAFLLNDREEQKRRECGYSCSP
  LNVVDLIVDIMFIIDILINFRTTYVNQNEEVVSDPAKIAIHYFKGWFLIDMVAAIPFDLLIFGSGSDETTTLIGL
  LKTARLLRLVRVARKLDRYSEYGAAVLMLLMCIFALIAHWLACIWYAIGNVERPYLTDKIGWLDSLGQQIGKRYN
  DSDSSSGPSIKDKYVTALYFTFSSLTSVGFGNVSPNTNSEKIFSICVMLIGSLMYASIFGNVSAIIQRLYSGTAR
  YHMQMLRVKEFIRFHQIPNPLRQRLEEYFQHAWTYTNGIDMNMVLKGFPECLQADICLHLNQTLLQNCKAFRGAS
  KGCLRALAMKFKTTHAPPGDTLVHCGDVLTALYFLSRGSIEILKDDIVVAILGKNDIFGEMVHLYAKPGKSNADV
  RALTYCDLHKIQREDLLEVLDMYPEFSDHFLTNLELTFNLRHESAKADLLRSQSMNDSEGDNCKLRRRKLSFESE
  GEKENSTNDPEDSADTIRHYQSSKRHFEEKKSRSSSFISSIDDEQKPLFSGIVDSSPGIGKASGLDFEETVPTSG
  RMHIDKRSHSCKDITDMRSWERENAHPQPEDSSPSALQRAAWGISETESDLTYGEVEQRLDLLQEQLNRLESQMT
  TDIQTILQLLQKQTTVVPPAYSMVTAGSEYQRPIIQLMRTSQPEASIKTDRSFSPSSQCPEFLDLEKSKLKSKES
  LSSGVHLNTASEDNLTSLLKQDSDLSLELHLRQRKTYVHPIRHPSLPDSSLSTVGIVGLHRHVSDPGLPGK

• Structural information:
  • Protein Domains: (41..7-)
    (/note="PAS-)
    (92..14-)
    (/note="PAC"-)
  • Interpro: IPR018490  IPR000595  IPR005821  IPR003938  IPR003967   IPR000014  IPR035965  IPR014710  IPR027359  
  • Prosite: PS50042
  • CDD: cd00038 cd00130
  • STRING: ENSP00000331727
• Other Databases: GeneCards:  KCNH7  Malacards:  KCNH7

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: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:0071805	potassium ion transmembrane transport	IEA	biological process
GO:0016021	integral component of membrane	IEA	cellular component
GO:0034765	regulation of ion transmembrane transport	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0016020	membrane	IEA	cellular component

Diseases

Associated diseases	References
Unexplained infertility	MIK: 25753583

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
25753583	Unexplained infertility			46 (17 fertile men, 29 male patients)	Male infertility	Microarray