• Gene id: 131096

Gene Summary

• Gene Symbol: KCNH8   Gene   UCSC   Ensembl
• Aliases: ELK, ELK1, Kv12.1, elk3
• Gene name: potassium voltage-gated channel subfamily H member 8
• Alternate names: potassium voltage-gated channel subfamily H member 8, ELK channel 3, ether-a-go-go-like potassium channel 1, ether-a-go-go-like potassium channel 3, hElk1, potassium channel, voltage gated eag related subfamily H, member 8, potassium voltage-gated channel, subf,
• Gene location: 3p24.3 (19148509: 19535641)     Exons: 17     NC_000003.12
• 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

Protein Summary

• Protein general information: Q96L42  
  • Name: Potassium voltage gated channel subfamily H member 8 (ELK1) (hElk1) (Ether a go go like potassium channel 3) (ELK channel 3) (ELK3) (Voltage gated potassium channel subunit Kv12.1)
  • Length: 1107  
  • Mass: 123804
  • Tissue specificity: Primarily expressed in the nervous system. {ECO
• Sequence:

  MPVMKGLLAPQNTFLDTIATRFDGTHSNFILANAQVAKGFPIVYCSDGFCELAGFARTEVMQKSCSCKFLFGVET
  NEQLMLQIEKSLEEKTEFKGEIMFYKKNGSPFWCLLDIVPIKNEKGDVVLFLASFKDITDTKVKITPEDKKEDKV
  KGRSRAGTHFDSARRRSRAVLYHISGHLQRREKNKLKINNNVFVDKPAFPEYKVSDAKKSKFILLHFSTFKAGWD
  WLILLATFYVAVTVPYNVCFIGNDDLSTTRSTTVSDIAVEILFIIDIILNFRTTYVSKSGQVIFEARSICIHYVT
  TWFIIDLIAALPFDLLYAFNVTVVSLVHLLKTVRLLRLLRLLQKLDRYSQHSTIVLTLLMSMFALLAHWMACIWY
  VIGKMEREDNSLLKWEVGWLHELGKRLESPYYGNNTLGGPSIRSAYIAALYFTLSSLTSVGFGNVSANTDAEKIF
  SICTMLIGALMHALVFGNVTAIIQRMYSRWSLYHTRTKDLKDFIRVHHLPQQLKQRMLEYFQTTWSVNNGIDSNE
  LLKDFPDELRSDITMHLNKEILQLSLFECASRGCLRSLSLHIKTSFCAPGEYLLRQGDALQAIYFVCSGSMEVLK
  DSMVLAILGKGDLIGANLSIKDQVIKTNADVKALTYCDLQCIILKGLFEVLDLYPEYAHKFVEDIQHDLTYNLRE
  GHESDVISRLSNKSMVSQSEPKGNGNINKRLPSIVEDEEEEEEGEEEEAVSLSPICTRGSSSRNKKVGSNKAYLG
  LSLKQLASGTVPFHSPIRVSRSNSPKTKQEIDPPNHNKRKEKNLKLQLSTLNNAGPPDLSPRIVDGIEDGNSSEE
  SQTFDFGSERIRSEPRISPPLGDPEIGAAVLFIKAEETKQQINKLNSEVTTLTQEVSQLGKDMRNVIQLLENVLS
  PQQPSRFCSLHSTSVCPSRESLQTRTSWSAHQPCLHLQTGGAAYTQAQLCSSNITSDIWSVDPSSVGSSPQRTGA
  HEQNPADSELYHSPSLDYSPSHYQVVQEGHLQFLRCISPHSDSTLTPLQSISATLSSSVCSSSETSLHLVLPSRS
  EEGSFSQGTVSSFSLENLPGSWNQEGMASASTKPLENLPLEVVTSTAEVKDNKAINV

• Structural information:
  • Protein Domains: (18..9-)
    (/note="PAS-)
    (93..14-)
    (/note="PAC-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00141"-)
  • Interpro: IPR018490  IPR000595  IPR005821  IPR003938  IPR003950   IPR001610  IPR000014  IPR000700  IPR035965  IPR014710  
  • Prosite: PS50042 PS50113
  • CDD: cd00038 cd00130
  • STRING: ENSP00000328813
• Other Databases: GeneCards:  KCNH8  Malacards:  KCNH8

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:0006811	ion transport	IEA	biological process
GO:0016020	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:0006813	potassium ion transport	IEA	biological process
GO:0005886	plasma membrane	TAS	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0005886	plasma membrane	IDA	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
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq