• Gene id: 3742

Gene Summary

• Gene Symbol: KCNA6   Gene   UCSC   Ensembl
• Aliases: HBK2, KV1.6, PPP1R96
• Gene name: potassium voltage-gated channel subfamily A member 6
• Alternate names: potassium voltage-gated channel subfamily A member 6, human brain potassium channel-2, potassium channel, voltage gated shaker related subfamily A, member 6, potassium voltage-gated channel, shaker-related subfamily, member 6, protein phosphatase 1, regulator,
• Gene location: 12p13.32 (4806876: 4851926)     Exons: 4     NC_000012.12
• Gene summary(Entrez): Potassium 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, neuronal excitability, e
• OMIM: 607813

Protein Summary

• Protein general information: P17658  
  • Name: Potassium voltage gated channel subfamily A member 6 (Voltage gated potassium channel HBK2) (Voltage gated potassium channel subunit Kv1.6)
  • Length: 529  
  • Mass: 58729
• Sequence:

  MRSEKSLTLAAPGEVRGPEGEQQDAGDFPEAGGGGGCCSSERLVINISGLRFETQLRTLSLFPDTLLGDPGRRVR
  FFDPLRNEYFFDRNRPSFDAILYYYQSGGRLRRPVNVPLDIFLEEIRFYQLGDEALAAFREDEGCLPEGGEDEKP
  LPSQPFQRQVWLLFEYPESSGPARGIAIVSVLVILISIVIFCLETLPQFRVDGRGGNNGGVSRVSPVSRGSQEEE
  EDEDDSYTFHHGITPGEMGTGGSSSLSTLGGSFFTDPFFLVETLCIVWFTFELLVRFSACPSKPAFFRNIMNIID
  LVAIFPYFITLGTELVQQQEQQPASGGGGQNGQQAMSLAILRVIRLVRVFRIFKLSRHSKGLQILGKTLQASMRE
  LGLLIFFLFIGVILFSSAVYFAEADDDDSLFPSIPDAFWWAVVTMTTVGYGDMYPMTVGGKIVGSLCAIAGVLTI
  ALPVPVIVSNFNYFYHRETEQEEQGQYTHVTCGQPAPDLRATDNGLGKPDFPEANRERRPSYLPTPHRAYAEKRM
  LTEV

• Structural information:
  • Interpro: IPR000210  IPR005821  IPR003968  IPR003972  IPR004053   IPR011333  IPR003131  IPR028325  IPR027359  
  • STRING: ENSP00000280684
• Other Databases: GeneCards:  KCNA6  Malacards:  KCNA6

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005251	delayed rectifier potassium channel activity	IBA	molecular function
GO:0005249	voltage-gated potassium channel activity	IBA	molecular function
GO:0008076	voltage-gated potassium channel complex	IBA	cellular component
GO:0016021	integral component of membrane	IBA	cellular component
GO:0071805	potassium ion transmembrane transport	IBA	biological process
GO:0005251	delayed rectifier potassium channel activity	IDA	molecular function
GO:0071805	potassium ion transmembrane transport	IDA	biological process
GO:0034705	potassium channel complex	ISS	cellular component
GO:0008076	voltage-gated potassium channel complex	ISS	cellular component
GO:0005887	integral component of plasma membrane	ISS	cellular component
GO:0005887	integral component of plasma membrane	IMP	cellular component
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:0008076	voltage-gated potassium channel complex	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0051260	protein homooligomerization	IEA	biological process
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:0005886	plasma membrane	IEA	cellular component
GO:0034765	regulation of ion transmembrane transport	IEA	biological process
GO:0071805	potassium ion transmembrane transport	IEA	biological process
GO:0016021	integral component of membrane	IEA	cellular component
GO:0006811	ion transport	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0006813	potassium ion transport	IEA	biological process
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:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0030424	axon	IEA	cellular component
GO:0043679	axon terminus	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq