CNFN - cornifelin Gene

Also Known as PLAC8L2

生物種: Homo sapiens

遺伝子タイプ: protein coding
遺伝子ID: 84518

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
Molecular Function GO Annotation Evidence 参考文献 由来
enables protein binding IPI
IPI: Inferred from physical interaction
32296183 GOA
Cellular Component GO Annotation Evidence 参考文献 由来
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
タンパク質名 Protein ID Interactor Interactor Species Interactor ID Detection Method 参考文献
Intra
CNFN Q9BYD5 TCF7L2 Homo sapiens Q9NQB0-10 32296183
Intra
CNFN Q9BYD5 SLC12A4 Homo sapiens Q9UP95 32296183
Intra
CNFN Q9BYD5 ZNF581 Homo sapiens Q9P0T4 32296183
Cross: Cross-species interaction Intra: Intraspecies interaction

関連疾患

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

Orthologs Information

生物種 Symbol 由来 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
Others CNFN NCBI