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CNFN Gene

protein-coding   GIFtS: 43
GCID: GC19M042891

Cornifelin

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(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
cornifelin1 2
PLAC8L22
Cornefied Envelope Protein Cornefilin2

External Ids:    HGNC: 301831   Entrez Gene: 845182   Ensembl: ENSG000001054277   OMIM: 6117645   UniProtKB: Q9BYD53   

Export aliases for CNFN gene to outside databases

Previous GC identifers: GC19M047584 GC19M039321


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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GeneCards Summary for CNFN Gene:
CNFN (cornifelin) is a protein-coding gene. An important paralog of this gene is PLAC8L1.

UniProtKB/Swiss-Prot: CNFN_HUMAN, Q9BYD5
Function: Part of the insoluble cornified cell envelope (CE) of stratified squamous epithelia




(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000019.9  NT_011109.17  NC_018930.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the CNFN gene promoter:
         GR   SREBP-1c   GR-beta   Olf-1   SREBP-1b   Pax-3   PPAR-gamma1   SREBP-1a   PPAR-gamma2   GR-alpha   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidCNFN promoter sequence
   Search Chromatin IP Primers for CNFN

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat CNFN


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 19q13.2   Ensembl cytogenetic band:  19q13.2   HGNC cytogenetic band: 19q13.31

CNFN Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
CNFN gene location

GeneLoc information about chromosome 19         GeneLoc Exon Structure

GeneLoc location for GC19M042891:  view genomic region     (about GC identifiers)

Start:
42,891,171 bp from pter      End:
42,894,444 bp from pter
Size:
3,274 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: CNFN_HUMAN, Q9BYD5 (See protein sequence)
Recommended Name: Cornifelin  
Size: 112 amino acids; 12376 Da
Subunit: Directly or indirectly cross-linked to CE proteins loricin and involucrin (IVL)
Secondary accessions: B2R569

Explore the universe of human proteins at neXtProt for CNFN: NX_Q9BYD5

Explore proteomics data for CNFN at MOPED


See CNFN Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

REFSEQ proteins: NP_115877.2  
ENSEMBL proteins: 
 ENSP00000222032   ENSP00000469590  

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(According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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1 InterPro protein domain:
 IPR006461 Uncharacterised_Cys-rich

Graphical View of Domain Structure for InterPro Entry Q9BYD5

ProtoNet protein and cluster: Q9BYD5

UniProtKB/Swiss-Prot: CNFN_HUMAN, Q9BYD5
Similarity: Belongs to the cornifelin family


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(According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, genOway,
transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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Molecular Function:

     UniProtKB/Swiss-Prot Summary: CNFN_HUMAN, Q9BYD5
Function: Part of the insoluble cornified cell envelope (CE) of stratified squamous epithelia

Phenotypes:
     1 GenomeRNAi human phenotype for CNFN:

 Increased gamma-H2AX phosphory 

Animal Models:
   genOway: Develop your customized and physiologically relevant rodent model for CNFN

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(According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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Subcellular locations from UniProtKB/Swiss-Prot
CNFN_HUMAN, Q9BYD5: Cytoplasm. Note=Constituent of the scaffolding of the cornified envelope (By similarity)
Subcellular locations from COMPARTMENTS: 

CompartmentConfidence
cytoskeleton5
cytosol2
extracellular2
nucleus2

Gene Ontology (GO): 2 cellular component terms:    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0001533cornified envelope IDA15147942
GO:0005737cytoplasm IEA--

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(SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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Interactions:

    Search GeneGlobe Interaction Network for CNFN

Gene Ontology (GO): 1 biological process term:    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0031424keratinization IEA--

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(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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Browse Tocris compounds for CNFN



(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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REFSEQ mRNAs for CNFN gene: 
NM_032488.3  

Unigene Cluster for CNFN:

Cornifelin
Hs.148590  [show with all ESTs]
Unigene Representative Sequence: NM_032488
2 Ensembl transcripts including schematic representations, and UCSC links where relevant:
ENST00000222032(uc002otp.4 uc002otq.4) ENST00000597255
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Additional mRNA sequence: 

AB049591.2 AK312080.1 BC101197.1 BC101198.2 

2 DOTS entries:

DT.40306952  DT.100891584 

14 AceView cDNA sequences:

AI829783 NM_032488 AB049591 BU188189 AI818662 AI201964 AJ403107 AA583746 
BE713051 BF221777 AI916118 AW450840 BE713133 BU566759 

GeneLoc Exon Structure


(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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CNFN expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>2/3
CGAP TAG: CGGGAGCGCT
CNFN Expression
About this image


CNFN expression in embryonic tissues and stem cells    About this table
Data from LifeMap, the Embryonic Development and Stem Cells Database
 selected tissues (see all 3) fully expand
 
 Blood (Hematopoietic System)
         Mature B-Cells Peripheral Blood
 
 Epidermis (Integumentary System)
 
 Esophagus (Gastrointestinal Tract)
CNFN Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

CNFN Protein Expression

SOURCE GeneReport for Unigene cluster: Hs.148590

UniProtKB/Swiss-Prot: CNFN_HUMAN, Q9BYD5
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

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In Situ
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(Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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This gene was present in the common ancestor of chordates.

Orthologs for CNFN gene from Selected species (see all 12)    About this table
Organism Taxonomic
classification
Gene Description Human
Similarity
Orthology
Type
Details
mouse
(Mus musculus)
Mammalia Cnfn1 , 5 cornifelin1, 5 90.99(n)1
98.2(a)1
  7 (13.78 cM)5
723831  NM_028219.11  NP_082495.11 
 253676165 
chicken
(Gallus gallus)
Aves --
Uncharacterized protein
37(a)
many ↔ many
4(45841896-45843110)
lizard
(Anolis carolinensis)
Reptilia CNFN6
cornifelin
48(a)
1 ↔ 1
GL344515.1(2825-4748)
tropical clawed frog
(Xenopus tropicalis)
Amphibia Str.61852 Transcribed sequence with weak similarity to protein more 72.5(n)    137713011 
zebrafish
(Danio rerio)
Actinopterygii cnfn6
cornifelin
47(a)
1 ↔ 1
16(13540647-13549001) ENSDARG00000041115


ENSEMBL Gene Tree for CNFN (if available)
TreeFam Gene Tree for CNFN (if available)

(Paralogs according to 1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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Paralogs for CNFN gene
PLAC8L12  PLAC82  
2 SIMAP similar genes for CNFN using alignment to 1 protein entry:     CNFN_HUMAN:
PLAC8L1    PLAC8

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(SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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Selected SNPs for CNFN (see all 132)    About this table                                 

Genomic DataTranscription Related DataAllele Frequencies
SNP IDValidClinical
significance
Chr 19 posSequence#AA
Chg
TypeMore#Allele
freq
PopTotal
sample
More
----------
rs1921767011,2
--42890820(+) AGTCCC/TCCACG 1 -- int10--------
rs1829538821,2
--42890853(+) CAACAG/TTCCAT 1 -- int10--------
rs1476970461,2
--42890862(+) ATAGAC/TATGGA 1 -- int10--------
rs1872051671,2
--42890878(+) CAAGGA/GCGCTC 1 -- int10--------
rs1157148161,2
F--42890918(+) CCGTCC/TTCCCA 1 -- int11Minor allele frequency- T:0.05WA 118
rs1424683481,2
--42891070(+) TGCCTA/GGCGGG 1 -- int10--------
rs754393671,2
C,F--42891093(+) CATCTG/CTCTTG 1 -- int12Minor allele frequency- C:0.03NA EA 240
rs1917103141,2
--42891187(+) GTTTTC/TATTGT 1 -- ut310--------
rs1465042101,2
C--42891400(+) CTAGAA/GGGTAG 1 -- int10--------
rs1999806551,2
--42891450(+) CCAGTC/GCCCAG 1 -- int10--------

HapMap Linkage Disequilibrium report for CNFN (42891171 - 42894444 bp)

Structural Variations
     Database of Genomic Variants (DGV) 7 variations for CNFN:    About this table    
Variant IDTypeSubtypePubMed ID
esv2422471CNV Deletion17116639
nsv520239CNV Loss19592680
nsv911782CNV Loss21882294
nsv911785CNV Loss21882294
nsv911788CNV Gain21882294
nsv522854CNV Gain19592680
nsv526186CNV Gain19592680

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(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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OMIM gene information: 611764    OMIM disorders: --


Find genes that share disorders with CNFN           About GenesLikeMe


Export disorders for CNFN gene to outside databases

(in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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PubMed articles for CNFN gene integrated from 10 sources:
(articles sorted by number of sources associating them with CNFN)
    Utopia: connect your pdf to the dynamic
world of online information

  1. Identification and characterization of a novel component of the cornified envelope, cornifelin. (PubMed id 15147942)1, 2, 9 Michibata H.... Imai Y. (Biochem. Biophys. Res. Commun. 2004)
  2. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)
  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. (PubMed id 9115270)1, 2 Robinson N.A.... Eckert R.L. (J. Biol. Chem. 1997)
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)2 Ota T.... Sugano S. (Nat. Genet. 2004)
  5. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1 Strausberg R.L....Marra M.A. (Proc. Natl. Acad. Sci. U.S.A. 2002)

(in PubMed, OMIM, and NCBI Bookshelf)
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 ANDOR
Aliases
Free Text  

  Query String
PubMed
OMIM
NCBI Bookshelf
  (Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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Entrez Gene: 84518 HGNC: 30183 AceView: CNFN Ensembl:ENSG00000105427 euGenes: HUgn84518
ECgene: CNFN H-InvDB: CNFN

(According to HUGE)
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  --

(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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NameDescription
PharmGKB entry for CNFN Pharmacogenomics, SNPs, Pathways

(Patent information from GeneIP,
Licensable technologies from WIS Yeda, Salk, Tufts,
IP news from LifeMap Sciences, Inc.)
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Patent Information for CNFN gene:
Search GeneIP for patents involving CNFN

GeneCards and IP:
Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, eBioscience, antibodies-online, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
Advanced Cell Diagnostics, Animal models from genOway)
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GeneCards Homepage - Last full update: 7 May 2014 - Incrementals: 9 May 2014 , 2 Jun 2014 , 26 Jun 2014 , 30 Jun 2014 , 21 Aug 2014 , 8 Sep 2014 , 7 Oct 2014

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