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Aliases for CNFN Gene

Aliases for CNFN Gene

  • Cornifelin 2 3 3 5
  • Cornefied Envelope Protein Cornefilin 3
  • PLAC8L2 3

External Ids for CNFN Gene

Previous GeneCards Identifiers for CNFN Gene

  • GC19M047584
  • GC19M042891
  • GC19M039321

Summaries for CNFN Gene

GeneCards Summary for CNFN Gene

CNFN (Cornifelin) is a Protein Coding gene. An important paralog of this gene is PLAC8L1.

UniProtKB/Swiss-Prot for CNFN Gene

  • Part of the insoluble cornified cell envelope (CE) of stratified squamous epithelia.

Additional gene information for CNFN Gene

No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CNFN Gene

Genomics for CNFN Gene

GeneHancer (GH) Regulatory Elements for CNFN Gene

Promoters and enhancers for CNFN Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH19J042390 Promoter 0.5 EPDnew 650.7 0.0 0 0.1 CNFN MEGF8 LOC101930071 LIPE-AS1
GH19J042440 Promoter/Enhancer 2 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 9.8 -52.6 -52636 5.3 FOXA2 ARID4B DMAP1 ZNF48 YY1 ZNF416 ZNF143 RUNX3 KLF13 RXRA CXCL17 ZNF574 ZNF526 LIPE-AS1 CNFN PSG8 ENSG00000268355 CD177 GC19P042435
GH19J042432 Enhancer 1.4 Ensembl ENCODE dbSUPER 11.5 -43.2 -43194 1.8 FOXA2 MLX ZNF493 ARID4B SIN3A ZNF48 ETS1 YY1 ZNF766 ARID2 GC19P042435 CNFN RNU4-60P POU2F2 LOC100505622 MEGF8 LIPE CXCL17 LIPE-AS1
GH19J042196 Enhancer 1.4 Ensembl ENCODE dbSUPER 9.8 +189.5 189513 8.8 HDGF PKNOX1 ATF1 ARNT IRF4 TCF12 ZNF121 E2F8 ZNF143 ZFP91 ZNF574 CCDC97 ZNF526 MEGF8 HNRNPUL1 GRIK5 GSK3A LOC100505622 CIC PAFAH1B3
GH19J042110 Enhancer 1.3 Ensembl ENCODE dbSUPER 9.9 +276.4 276445 7.1 HDGF PKNOX1 ATF1 ZNF133 SIN3A ZNF2 GLIS2 ZNF143 ATF7 FOS POU2F2 CIC GSK3A PRR19 PAFAH1B3 MEGF8 DEDD2 ZNF526 ATP1A3 CNFN
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around CNFN on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the CNFN gene promoter:
  • PPAR-gamma2
  • PPAR-gamma1
  • Olf-1
  • GR-beta
  • GR-alpha
  • GR
  • SREBP-1a
  • SREBP-1b
  • SREBP-1c
  • Pax-3

Genomic Locations for CNFN Gene

Genomic Locations for CNFN Gene
chr19:42,387,019-42,390,317
(GRCh38/hg38)
Size:
3,299 bases
Orientation:
Minus strand
chr19:42,891,171-42,894,444
(GRCh37/hg19)
Size:
3,274 bases
Orientation:
Minus strand

Genomic View for CNFN Gene

Genes around CNFN on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CNFN Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CNFN Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CNFN Gene

Proteins for CNFN Gene

  • Protein details for CNFN Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9BYD5-CNFN_HUMAN
    Recommended name:
    Cornifelin
    Protein Accession:
    Q9BYD5
    Secondary Accessions:
    • B2R569

    Protein attributes for CNFN Gene

    Size:
    112 amino acids
    Molecular mass:
    12376 Da
    Quaternary structure:
    • Directly or indirectly cross-linked to CE proteins loricin and involucrin (IVL).

neXtProt entry for CNFN Gene

Post-translational modifications for CNFN Gene

No Post-translational modifications

Other Protein References for CNFN Gene

No data available for DME Specific Peptides for CNFN Gene

Domains & Families for CNFN Gene

Gene Families for CNFN Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for CNFN Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for CNFN Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9BYD5

UniProtKB/Swiss-Prot:

CNFN_HUMAN :
  • Belongs to the cornifelin family.
Family:
  • Belongs to the cornifelin family.
genes like me logo Genes that share domains with CNFN: view

Function for CNFN Gene

Molecular function for CNFN Gene

UniProtKB/Swiss-Prot Function:
Part of the insoluble cornified cell envelope (CE) of stratified squamous epithelia.
genes like me logo Genes that share phenotypes with CNFN: view

Animal Model Products

CRISPR Products

miRNA for CNFN Gene

miRTarBase miRNAs that target CNFN

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CNFN

No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for CNFN Gene

Localization for CNFN Gene

Subcellular locations from UniProtKB/Swiss-Prot for CNFN Gene

Cytoplasm. Note=Constituent of the scaffolding of the cornified envelope. {ECO:0000250}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for CNFN gene
Compartment Confidence
plasma membrane 5
extracellular 5
cytoskeleton 2
nucleus 2
cytosol 2

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytokinetic bridge (2)
  • Microtubules (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for CNFN Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001533 cornified envelope IDA 15147942
GO:0005737 cytoplasm IEA --
GO:0070062 extracellular exosome HDA --
genes like me logo Genes that share ontologies with CNFN: view

Pathways & Interactions for CNFN Gene

No Data Available

Interacting Proteins for CNFN Gene

Selected Interacting proteins: Q9BYD5-CNFN_HUMAN for CNFN Gene via UniProtKB

Gene Ontology (GO) - Biological Process for CNFN Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0031424 keratinization IEA --
genes like me logo Genes that share ontologies with CNFN: view

No data available for Pathways by source and SIGNOR curated interactions for CNFN Gene

Drugs & Compounds for CNFN Gene

No Compound Related Data Available

Transcripts for CNFN Gene

mRNA/cDNA for CNFN Gene

(4) REFSEQ mRNAs :
(4) Additional mRNA sequences :
(14) Selected AceView cDNA sequences:
(2) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for CNFN Gene

Cornifelin:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CNFN

Alternative Splicing Database (ASD) splice patterns (SP) for CNFN Gene

No ASD Table

Relevant External Links for CNFN Gene

GeneLoc Exon Structure for
CNFN
ECgene alternative splicing isoforms for
CNFN

Expression for CNFN Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for CNFN Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for CNFN Gene

This gene is overexpressed in Esophagus - Mucosa (x23.2), Vagina (x9.8), Cervix - Ectocervix (x8.3), and Skin - Sun Exposed (Lower leg) (x4.1).

Protein differential expression in normal tissues from HIPED for CNFN Gene

This gene is overexpressed in Hair follicle (28.7), Saliva (22.7), and Cervix (11.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for CNFN Gene



Protein tissue co-expression partners for CNFN Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of CNFN Gene:

CNFN

SOURCE GeneReport for Unigene cluster for CNFN Gene:

Hs.148590

mRNA Expression by UniProt/SwissProt for CNFN Gene:

Q9BYD5-CNFN_HUMAN
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 cornified cell envelope (CE), but does not affect keratinocyte differentiation. Expressed in the granular cell layer of epidermis in uninvolved psoriatic skin and in the psoriatic lesions it is found in the upper-spinous layer. Increased expression also seen in atopic dermatitis (14.3 fold increase in comparison with normal skin) and mycosis fungoides (4.6 fold increase in comparison with normal skin) and in both conditions expressed in the granular cell layer of epidermis.

Evidence on tissue expression from TISSUES for CNFN Gene

  • Skin(4.5)
genes like me logo Genes that share expression patterns with CNFN: view

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for CNFN Gene

Orthologs for CNFN Gene

This gene was present in the common ancestor of chordates.

Orthologs for CNFN Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia CNFN 34 33
  • 99.11 (n)
OneToOne
dog
(Canis familiaris)
Mammalia CNFN 34 33
  • 92.79 (n)
OneToOne
cow
(Bos Taurus)
Mammalia CNFN 34 33
  • 92.19 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Cnfn 16 34 33
  • 90.99 (n)
rat
(Rattus norvegicus)
Mammalia Cnfn 33
  • 89.49 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia CNFN 34
  • 84 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia -- 34
  • 41 (a)
ManyToMany
chicken
(Gallus gallus)
Aves -- 34
  • 37 (a)
ManyToMany
lizard
(Anolis carolinensis)
Reptilia CNFN 34
  • 48 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia Str.6185 33
zebrafish
(Danio rerio)
Actinopterygii cnfn 34
  • 47 (a)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 23 (a)
OneToMany
Species where no ortholog for CNFN was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for CNFN Gene

ENSEMBL:
Gene Tree for CNFN (if available)
TreeFam:
Gene Tree for CNFN (if available)
Aminode:
Evolutionary constrained regions (ECRs) for CNFN: view image

Paralogs for CNFN Gene

Paralogs for CNFN Gene

(2) SIMAP similar genes for CNFN Gene using alignment to 1 proteins:

  • CNFN_HUMAN
genes like me logo Genes that share paralogs with CNFN: view

Variants for CNFN Gene

Sequence variations from dbSNP and Humsavar for CNFN Gene

SNP ID Clin Chr 19 pos Variation AA Info Type
rs1001460275 -- 42,389,342(-) G/T intron_variant
rs1001939798 -- 42,387,675(-) T/C intron_variant
rs1001956793 -- 42,392,163(-) A/G upstream_transcript_variant
rs1002347447 -- 42,388,240(-) C/A intron_variant
rs1002535368 -- 42,389,344(-) C/T intron_variant

Structural Variations from Database of Genomic Variants (DGV) for CNFN Gene

Variant ID Type Subtype PubMed ID
esv2422471 CNV deletion 17116639
nsv520239 CNV loss 19592680
nsv522854 CNV gain 19592680
nsv526186 CNV gain 19592680
nsv953584 CNV deletion 24416366

Variation tolerance for CNFN Gene

Residual Variation Intolerance Score: 75% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.50; 10.78% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for CNFN Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
CNFN

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CNFN Gene

Disorders for CNFN Gene

Additional Disease Information for CNFN

No disorders were found for CNFN Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for CNFN Gene

Publications for CNFN Gene

  1. Identification and characterization of a novel component of the cornified envelope, cornifelin. (PMID: 15147942) Michibata H … Imai Y (Biochemical and biophysical research communications 2004) 3 4 22 58
  2. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 58
  3. S100A11, S100A10, annexin I, desmosomal proteins, small proline-rich proteins, plasminogen activator inhibitor-2, and involucrin are components of the cornified envelope of cultured human epidermal keratinocytes. (PMID: 9115270) Robinson NA … Eckert RL (The Journal of biological chemistry 1997) 3 4 58
  4. Proteomic analysis of podocyte exosome-enriched fraction from normal human urine. (PMID: 23376485) Prunotto M … Moll S (Journal of proteomics 2013) 3 58
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 4 58

Products for CNFN Gene

Sources for CNFN Gene

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