• Gene id: 84518

Gene Summary

• Gene Symbol: CNFN   Gene   UCSC   Ensembl
• Aliases: PLAC8L2
• Gene name: cornifelin
• Alternate names: cornifelin, cornefied envelope protein cornefilin,
• Gene location: 19q13.2 (42390317: 42387018)     Exons: 5     NC_000019.10
• OMIM: 611764

Protein Summary

• Protein general information: Q9BYD5  
  • Name: Cornifelin
  • Length: 112  
  • Mass: 12376
  • Tissue specificity: Abundant in the cervix. Moderately abundant in the uterus and fetal skin. Expression is markedly increased in psoriatic skin (18.5 fold increase in comparison with normal skin) and its overexpression alters the protein composition of c
• Sequence:

  MSYPVTSQPQCATTSCYQTQLSDWHTGLTDCCNDMPVCLCGTFAPLCLACRISDDFGECCCAPYLPGGLHSIRTG
  MRERYHIQGSVGHDWAALTFCLPCALCQMARELKIRE

• Structural information:
  • Interpro: IPR006461  
  • STRING: ENSP00000222032
• Other Databases: GeneCards:  CNFN  Malacards:  CNFN

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0001533	cornified envelope	IBA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0031424	keratinization	IEA	biological process
GO:0001533	cornified envelope	IDA	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: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: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:0005515	protein binding	IPI	molecular function
GO:0005737	cytoplasm	IEA	cellular component

Diseases

Associated diseases	References
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