2. Gene
  3. CNFN - cornifelin Gene

CNFN - cornifelin Gene

  • Gene
  • Protein
  • Disease
  • Agent
  • Ortholog
Homo sapiens

Also known as PLAC8L2

Gene ID: 84518 | Gene type: protein coding

About CNFN

Cytogenetic location: 19q13.2 Genomic coordinates (GRCh38): 19:42,387,019-42,390,297 (from NCBI)

This gene has 2 transcripts (splice variants), 174 orthologues and 2 paralogues. Biased expression in esophagus (RPKM 174.2) and skin (RPKM 39.8).

Summary

Predicted to be involved in keratinization. Located in cornified envelope. [provided by Alliance of Genome Resources, Apr 2022]

CNFN Products(1)

mRNA Protein Name
NM_032488.4 NP_115877.2 cornifelin
Gene Ontology
  • Molecular Function
  • Cellular Component
Molecular Function GO Annotation Evidence Reference Source
enables protein binding IPI
IPI: Inferred from physical interaction
32296183 GOA
Cellular Component GO Annotation Evidence Reference Source
located in cornified envelope IDA
IDA: Inferred from direct assay
15147942 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

CNFN Protein Structure

PLAC8

PLAC8: PLAC8 family (24 - 108)

  • 0
  • 100
  • 112 a.a.
Protein Preferred Names Protein Names

cornifelin

cornefied envelope protein cornefilin

CNFN Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method Reference
Intra CNFN Q9BYD5 TCF7L2 Homo sapiens Q9NQB0-10
Validated Y2H
32296183
Intra CNFN Q9BYD5 SLC12A4 Homo sapiens Q9UP95
Validated Y2H
32296183
Intra CNFN Q9BYD5 ZNF581 Homo sapiens Q9P0T4
Validated Y2H
32296183
Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases Alias
Idiopathic Peripheral Autonomic Neuropathy
Hermansky-Pudlak Syndrome 1

Albinism With Hemorrhagic Diathesis And Pigmented Reticuloendothelial Cells

HPS1

Delta Storage Pool Disease

Albinism With Hemorrhagic Diathesis And Pigmented Reticuloendothelial

Hermansky-Pudlak Syndrome, Type 1

Platelet Storage Pool Deficiency
Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase
Bioactive Molecules (1)
Cat. No. Product Name Effect
Purity Rare Diseases
HY-RS02878 CNFN Human Pre-designed siRNA Set A Pre-designed Sets / Unkown

Orthologs Information

Species Symbol Source ID
Rattus norvegicus CNFN RGD RGD:1563577
Felis catus CNFN VGNC VGNC:61010
Canis familiaris CNFN VGNC VGNC:39394
Macaca mulatta CNFN VGNC VGNC:109602
Bos taurus CNFN VGNC VGNC:27496
Mus musculus CNFN MGD MGI:1919633