• Gene id: 115207

Gene Summary

• Gene Symbol: KCTD12   Gene   UCSC   Ensembl
• Aliases: C13orf2, PFET1, PFETIN
• Gene name: potassium channel tetramerization domain containing 12
• Alternate names: BTB/POZ domain-containing protein KCTD12, potassium channel tetramerisation domain containing 12, predominantly fetal expressed T1 domain, testicular tissue protein Li 100,
• Gene location: 13q22.3 (76886404: 76880174)     Exons: 1     NC_000013.11
• OMIM: 610521

Protein Summary

• Protein general information: Q96CX2  
  • Name: BTB/POZ domain containing protein KCTD12 (Pfetin) (Predominantly fetal expressed T1 domain)
  • Length: 325  
  • Mass: 35701
  • Tissue specificity: Present in a variety of fetal organs, with highest expression levels in the cochlea and brain and, in stark contrast, is detected only at extremely low levels in adult organs, such as brain and lung. {ECO
• Sequence:

  MALADSTRGLPNGGGGGGGSGSSSSSAEPPLFPDIVELNVGGQVYVTRRCTVVSVPDSLLWRMFTQQQPQELARD
  SKGRFFLDRDGFLFRYILDYLRDLQLVLPDYFPERSRLQREAEYFELPELVRRLGAPQQPGPGPPPSRRGVHKEG
  SLGDELLPLGYSEPEQQEGASAGAPSPTLELASRSPSGGAAGPLLTPSQSLDGSRRSGYITIGYRGSYTIGRDAQ
  ADAKFRRVARITVCGKTSLAKEVFGDTLNESRDPDRPPERYTSRYYLKFNFLEQAFDKLSESGFHMVACSSTGTC
  AFASSTDQSEDKIWTSYTEYVFCRE

• Structural information:
  • Interpro: IPR000210  IPR011333  IPR003131  
  • PDB: 6M8S 6QZL
  • PDBsum: 6M8S 6QZL
  • STRING: ENSP00000366694
• Other Databases: GeneCards:  KCTD12  Malacards:  KCTD12

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0043235	receptor complex	IBA	cellular component
GO:0042734	presynaptic membrane	IBA	cellular component
GO:0008277	regulation of G protein-coupled receptor signaling pathway	IBA	biological process
GO:0045211	postsynaptic membrane	IBA	cellular component
GO:0051260	protein homooligomerization	IEA	biological process
GO:0042995	cell projection	IEA	cellular component
GO:0030054	cell junction	IEA	cellular component
GO:0045211	postsynaptic membrane	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0045202	synapse	IEA	cellular component
GO:0042802	identical protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0042734	presynaptic membrane	IEA	cellular component
GO:0045211	postsynaptic membrane	IEA	cellular component
GO:0003723	RNA binding	HDA	molecular function

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Hypospermatogenesis	MIK: 28361989
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
28361989	Hypospermatogenesis			6 (3 controls, 3 Klienfelter syndrome	Male infertility	Microarray