• Gene id: 27133

Gene Summary

• Gene Symbol: KCNH5   Gene   UCSC   Ensembl
• Aliases: EAG2, H-EAG2, Kv10.2, hEAG2
• Gene name: potassium voltage-gated channel subfamily H member 5
• Alternate names: potassium voltage-gated channel subfamily H member 5, ether-a-go-go 2, ether-a-go-go-related potassium channel 2, potassium channel, voltage gated eag related subfamily H, member 5, potassium voltage-gated channel, subfamily H (eag-related), member 5, voltage-,
• Gene location: 14q23.2 (63045457: 62699463)     Exons: 11     NC_000014.9
• Gene summary(Entrez): This gene encodes a member of voltage-gated potassium channels. Members of this family have diverse functions, including regulating neurotransmitter and hormone release, cardiac function, and cell volume. This protein is an outward-rectifying, noninactiva
• OMIM: 607220

Protein Summary

• Protein general information: Q8NCM2  
  • Name: Potassium voltage gated channel subfamily H member 5 (Ether a go go potassium channel 2) (hEAG2) (Voltage gated potassium channel subunit Kv10.2)
  • Length: 988  
  • Mass: 111877
  • Tissue specificity: Detected in brain, skeletal muscle, heart, placenta, lung and liver, and at low levels in kidney.
• Sequence:

  MPGGKRGLVAPQNTFLENIVRRSSESSFLLGNAQIVDWPVVYSNDGFCKLSGYHRADVMQKSSTCSFMYGELTDK
  KTIEKVRQTFDNYESNCFEVLLYKKNRTPVWFYMQIAPIRNEHEKVVLFLCTFKDITLFKQPIEDDSTKGWTKFA
  RLTRALTNSRSVLQQLTPMNKTEVVHKHSRLAEVLQLGSDILPQYKQEAPKTPPHIILHYCAFKTTWDWVILILT
  FYTAIMVPYNVSFKTKQNNIAWLVLDSVVDVIFLVDIVLNFHTTFVGPGGEVISDPKLIRMNYLKTWFVIDLLSC
  LPYDIINAFENVDEGISSLFSSLKVVRLLRLGRVARKLDHYLEYGAAVLVLLVCVFGLVAHWLACIWYSIGDYEV
  IDEVTNTIQIDSWLYQLALSIGTPYRYNTSAGIWEGGPSKDSLYVSSLYFTMTSLTTIGFGNIAPTTDVEKMFSV
  AMMMVGSLLYATIFGNVTTIFQQMYANTNRYHEMLNNVRDFLKLYQVPKGLSERVMDYIVSTWSMSKGIDTEKVL
  SICPKDMRADICVHLNRKVFNEHPAFRLASDGCLRALAVEFQTIHCAPGDLIYHAGESVDALCFVVSGSLEVIQD
  DEVVAILGKGDVFGDIFWKETTLAHACANVRALTYCDLHIIKREALLKVLDFYTAFANSFSRNLTLTCNLRKRII
  FRKISDVKKEEEERLRQKNEVTLSIPVDHPVRKLFQKFKQQKELRNQGSTQGDPERNQLQVESRSLQNGASITGT
  SVVTVSQITPIQTSLAYVKTSESLKQNNRDAMELKPNGGADQKCLKVNSPIRMKNGNGKGWLRLKNNMGAHEEKK
  EDWNNVTKAESMGLLSEDPKSSDSENSVTKNPLRKTDSCDSGITKSDLRLDKAGEARSPLEHSPIQADAKHPFYP
  IPEQALQTTLQEVKHELKEDIQLLSCRMTALEKQVAEILKILSEKSVPQASSPKSQMPLQVPPQIPCQDIFSVSR
  PESPESDKDEIHF

• Structural information:
  • Protein Domains: (12..9-)
    (/note="PAS-)
    (91..14-)
    (/note="PAC-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00141"-)
  • Interpro: IPR018490  IPR000595  IPR030171  IPR005821  IPR003949   IPR003938  IPR001610  IPR000014  IPR000700  IPR035965  IPR014710  IPR027359  
  • Prosite: PS50042 PS50113
  • CDD: cd00038 cd00130
  • STRING: ENSP00000321427
• Other Databases: GeneCards:  KCNH5  Malacards:  KCNH5

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:0005516	calmodulin binding	IEA	molecular function
GO:0005244	voltage-gated ion channel activity	IEA	molecular function
GO:0006811	ion transport	IEA	biological process
GO:0071805	potassium ion transmembrane transport	IEA	biological process
GO:0034765	regulation of ion transmembrane transport	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0006813	potassium ion transport	IEA	biological process
GO:0016021	integral component of membrane	IEA	cellular component
GO:0010389	regulation of G2/M transition of mitotic cell cycle	IDA	biological process
GO:0009986	cell surface	IDA	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0044325	ion channel binding	IEA	molecular function
GO:0044877	protein-containing complex binding	IEA	molecular function
GO:0016020	membrane	IEA	cellular component

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq