• Gene id: 56479

Gene Summary

• Gene Symbol: KCNQ5   Gene   UCSC   Ensembl
• Aliases: Kv7.5, MRD46
• Gene name: potassium voltage-gated channel subfamily Q member 5
• Alternate names: potassium voltage-gated channel subfamily KQT member 5, KQT-like 5, potassium channel protein, potassium channel subunit alpha KvLQT5, potassium channel, voltage gated KQT-like subfamily Q, member 5, voltage-gated potassium channel subunit Kv7.5,
• Gene location: 6q13 (72621842: 73198852)     Exons: 17     NC_000006.12
• Gene summary(Entrez): This gene is a member of the KCNQ potassium channel gene family that is differentially expressed in subregions of the brain and in skeletal muscle. The protein encoded by this gene yields currents that activate slowly with depolarization and can form hete
• OMIM: 600514

Protein Summary

• Protein general information: Q9NR82  
  • Name: Potassium voltage gated channel subfamily KQT member 5 (KQT like 5) (Potassium channel subunit alpha KvLQT5) (Voltage gated potassium channel subunit Kv7.5)
  • Length: 932  
  • Mass: 102179
  • Tissue specificity: Strongly expressed in brain and skeletal muscle. In brain, expressed in cerebral cortex, occipital pole, frontal lobe and temporal lobe. Lower levels in hippocampus and putamen. Low to undetectable levels in medulla, cerebellum and tha
• Sequence:

  MPRHHAGGEEGGAAGLWVKSGAAAAAAGGGRLGSGMKDVESGRGRVLLNSAAARGDGLLLLGTRAATLGGGGGGL
  RESRRGKQGARMSLLGKPLSYTSSQSCRRNVKYRRVQNYLYNVLERPRGWAFIYHAFVFLLVFGCLILSVFSTIP
  EHTKLASSCLLILEFVMIVVFGLEFIIRIWSAGCCCRYRGWQGRLRFARKPFCVIDTIVLIASIAVVSAKTQGNI
  FATSALRSLRFLQILRMVRMDRRGGTWKLLGSVVYAHSKELITAWYIGFLVLIFSSFLVYLVEKDANKEFSTYAD
  ALWWGTITLTTIGYGDKTPLTWLGRLLSAGFALLGISFFALPAGILGSGFALKVQEQHRQKHFEKRRNPAANLIQ
  CVWRSYAADEKSVSIATWKPHLKALHTCSPTKKEQGEASSSQKLSFKERVRMASPRGQSIKSRQASVGDRRSPST
  DITAEGSPTKVQKSWSFNDRTRFRPSLRLKSSQPKPVIDADTALGTDDVYDEKGCQCDVSVEDLTPPLKTVIRAI
  RIMKFHVAKRKFKETLRPYDVKDVIEQYSAGHLDMLCRIKSLQTRVDQILGKGQITSDKKSREKITAEHETTDDL
  SMLGRVVKVEKQVQSIESKLDCLLDIYQQVLRKGSASALALASFQIPPFECEQTSDYQSPVDSKDLSGSAQNSGC
  LSRSTSANISRGLQFILTPNEFSAQTFYALSPTMHSQATQVPISQSDGSAVAATNTIANQINTAPKPAAPTTLQI
  PPPLPAIKHLPRPETLHPNPAGLQESISDVTTCLVASKENVQVAQSNLTKDRSMRKSFDMGGETLLSVCPMVPKD
  LGKSLSVQNLIRSTEELNIQLSGSESSGSRGSQDFYPKWRESKLFITDEEVGPEETETDTFDAAPQPAREAAFAS
  DSLRTGRSRSSQSICKAGESTDALSLPHVKLK

• Structural information:
  • Interpro: IPR005821  IPR003937  IPR013821  
  • PDB: 6B8Q
  • PDBsum: 6B8Q
  • STRING: ENSP00000345055
• Other Databases: GeneCards:  KCNQ5  Malacards:  KCNQ5

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005251	delayed rectifier potassium channel activity	IBA	molecular function
GO:0005516	calmodulin binding	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:0005249	voltage-gated potassium channel activity	IDA	molecular function
GO:0008076	voltage-gated potassium channel complex	IDA	cellular component
GO:0005887	integral component of plasma membrane	IDA	cellular component
GO:0071805	potassium ion transmembrane transport	IDA	biological process
GO:0005249	voltage-gated potassium channel activity	IDA	molecular function
GO:0008076	voltage-gated potassium channel complex	IDA	cellular component
GO:0005887	integral component of plasma membrane	IDA	cellular component
GO:0005249	voltage-gated potassium channel activity	IDA	molecular function
GO:0071805	potassium ion transmembrane transport	IDA	biological process
GO:0030118	clathrin coat	IDA	cellular component
GO:0071805	potassium ion transmembrane transport	IMP	biological process
GO:0005249	voltage-gated potassium channel activity	IMP	molecular function
GO:0005515	protein binding	IPI	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:0071805	potassium ion transmembrane transport	IEA	biological process
GO:0005267	potassium channel activity	IEA	molecular function
GO:0005244	voltage-gated ion channel activity	IEA	molecular function
GO:0034765	regulation of ion transmembrane transport	IEA	biological process
GO:0006813	potassium ion transport	IEA	biological process
GO:0071805	potassium ion transmembrane transport	IEA	biological process
GO:0006811	ion transport	IEA	biological process
GO:0016021	integral component of membrane	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0006813	potassium ion transport	IEA	biological process
GO:0005249	voltage-gated potassium channel activity	IEA	molecular function
GO:0005886	plasma membrane	IEA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa04725	Cholinergic synapse

Diseases

Associated diseases	References
Autosomal dominant mental retardation	KEGG:H00773
Autosomal dominant mental retardation	KEGG:H00773
Cryptorchidism	MIK: 28606200
Spermatogenic defects	MIK: 31037746

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
31037746	Spermatogenic defects			16 (1 control, 15 cases)	Male infertility	GSE6023 analyzed using GEO2R