• Gene id: 114908

Gene Summary

• Gene Symbol: TMEM123   Gene   UCSC   Ensembl
• Aliases: KCT3, PORIMIN, PORMIN
• Gene name: transmembrane protein 123
• Alternate names: porimin, KCT-3, keratinocytes associated transmembrane protein 3, pro-oncosis receptor inducing membrane injury, serine/threonine-rich receptor,
• Gene location: 11q22.2 (102452764: 102396331)     Exons: 5     NC_000011.10
• Gene summary(Entrez): This gene encodes a highly glycosylated transmembrane protein with a high content of threonine and serine residues in its extracellular domain, similar to a broadly defined category of proteins termed mucins. Exposure of some cell types to anti-PORIMIN (p
• OMIM: 606725

Protein Summary

• Protein general information: Q8N131  
  • Name: Porimin (Keratinocytes associated transmembrane protein 3) (KCT 3) (Pro oncosis receptor inducing membrane injury) (Transmembrane protein 123)
  • Length: 208  
  • Mass: 21531
  • Tissue specificity: Ubiquitous. Not expressed in ovary. Expressed in keratinocytes. {ECO
• Sequence:

  MGLGARGAWAALLLGTLQVLALLGAAHESAAMAASANIENSGLPHNSSANSTETLQHVPSDHTNETSNSTVKPPT
  SVASDSSNTTVTTMKPTAASNTTTPGMVSTNMTSTTLKSTPKTTSVSQNTSQISTSTMTVTHNSSVTSAASSVTI
  TTTMHSEAKKGSKFDTGSFVGGIVLTLGVLSILYIGCKMYYSRRGIRYRTIDEHDAII

• Structural information:
  • Interpro: IPR007947  
  • STRING: ENSP00000381204
• Other Databases: GeneCards:  TMEM123  Malacards:  TMEM123

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0031410	cytoplasmic vesicle	IBA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0016020	membrane	IEA	cellular component
GO:0070267	oncosis	IDA	biological process
GO:0070267	oncosis	IDA	biological process
GO:0009897	external side of plasma membrane	IDA	cellular component
GO:0038023	signaling receptor activity	NAS	molecular function
GO:0016021	integral component of membrane	NAS	cellular component

Diseases

Associated diseases	References
Spermatogenic defects	MIK: 31037746

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
31037746	Spermatogenic defects			16 (1 control, 15 cases)	Male infertility	GSE6023 analyzed using GEO2R