• Gene id: 154881

Gene Summary

• Gene Symbol: KCTD7   Gene   UCSC   Ensembl
• Aliases: CLN14, EPM3
• Gene name: potassium channel tetramerization domain containing 7
• Alternate names: BTB/POZ domain-containing protein KCTD7, potassium channel tetramerisation domain containing 7,
• Gene location: 7q11.21 (66628880: 66643228)     Exons: 4     NC_000007.14
• Gene summary(Entrez): This gene encodes a member of the potassium channel tetramerization domain-containing protein family. Family members are identified on a structural basis and contain an amino-terminal domain similar to the T1 domain present in the voltage-gated potassium
• OMIM: 611725

Protein Summary

• Protein general information: Q96MP8  
  • Name: BTB/POZ domain containing protein KCTD7
  • Length: 289  
  • Mass: 33132
• Sequence:

  MVVVTGREPDSRRQDGAMSSSDAEDDFLEPATPTATQAGHALPLLPQEFPEVVPLNIGGAHFTTRLSTLRCYEDT
  MLAAMFSGRHYIPTDSEGRYFIDRDGTHFGDVLNFLRSGDLPPRERVRAVYKEAQYYAIGPLLEQLENMQPLKGE
  KVRQAFLGLMPYYKDHLERIVEIARLRAVQRKARFAKLKVCVFKEEMPITPYECPLLNSLRFERSESDGQLFEHH
  CEVDVSFGPWEAVADVYDLLHCLVTDLSAQGLTVDHQCIGVCDKHLVNHYYCKRPIYEFKITWW

• Structural information:
  • Protein Domains: (51..14-)
    (/note="BTB"-)
  • Interpro: IPR000210  IPR011333  IPR003131  
  • STRING: ENSP00000275532
• Other Databases: GeneCards:  KCTD7  Malacards:  KCTD7

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0060081	membrane hyperpolarization	IBA	biological process
GO:0032411	positive regulation of transporter activity	IBA	biological process
GO:0005886	plasma membrane	IBA	cellular component
GO:0051260	protein homooligomerization	IEA	biological process
GO:0005886	plasma membrane	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0043687	post-translational protein modification	TAS	biological process
GO:0005886	plasma membrane	IEA	cellular component
GO:0030007	cellular potassium ion homeostasis	IEA	biological process
GO:0032411	positive regulation of transporter activity	IEA	biological process
GO:0060081	membrane hyperpolarization	IEA	biological process
GO:0005829	cytosol	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0005886	plasma membrane	IDA	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0090461	glutamate homeostasis	IMP	biological process

Diseases

Associated diseases	References
Progressive myoclonic epilepsy	KEGG:H00810
Progressive myoclonic epilepsy	KEGG:H00810
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881