CNFN Gene
protein-coding GIFtS: 41
GCID: GC19M042891
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cornifelin
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Aliases
for CNFN gene
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc,
7Ensembl,
8DME,
9miRBase,
and/or 10fRNAdb)
About This Section
|
| Aliases |
|---|
| Cornifelin1 | | PLAC8L21 2 | | Cornefied Envelope Protein Cornefilin2 |
Export aliases for CNFN gene to outside databasesPrevious GC identifers: GC19M047584 GC19M039321 |
Summaries
for CNFN gene(According to Entrez Gene,
Tocris Bioscience,
Wikipedia's
Gene Wiki,
PharmGKB,
UniProtKB/Swiss-Prot,
and/or
UniProtKB/TrEMBL)
About This Section
|
UniProtKB/Swiss-Prot: CNFN_HUMAN, Q9BYD5Function: Part of the insoluble cornified cell envelope (CE) of stratified squamous epithelia
|
Genomic Views
for CNFN gene
(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 69),
Regulatory elements and Epigenetics data according to
QIAGEN,
SABiosciences, and/or
SwitchGear Genomics)
About This Section
| RefSeq DNA sequence:- NC_000019.9 NC_018930.1 NT_011109.16
Regulatory elements:
 SABiosciences 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
Search SABiosciences Chromatin IP Primers for CNFN
Epigenetics:
| | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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: 19q13.31CNFN Gene in genomic location: bands according to Ensembl, locations according to
 (and/or Entrez Gene and/or Ensembl if different)
GeneLoc information about chromosome 19 GeneLoc Exon Structure GeneLoc location for GC19M042891: view genomic region
(about GC identifiers)
Start:
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42,891,171 bp from pter |
End:
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42,894,444 bp from pter |
Size:
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3,274 bases |
Orientation:
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minus strand |
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Proteins
for CNFN gene
(According to
1UniProtKB,
HORDE,
neXtProt,
Ensembl,
and/or Reactome,
Modification sites according to 2PhosphoSitePlus,
Specific Peptides from DME,
Protein expression images according to data from SPIRE MOPED and PaxDb,
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, and/or
Uscn,
Biochemical Assays by
EMD Millipore,
R&D Systems,
OriGene,
GenScript,
Cell Signaling Technology,
Enzo Life Sciences, and/or
Uscn,
Ontologies according to Gene
Ontology Consortium 01 Mar 2013 and
Entrez Gene,
Antibodies by
EMD Millipore,
R&D Systems,
GenScript,
Cell Signaling Technology,
OriGene,
Novus Biologicals,
Thermo Fisher Scientific,
Abcam, and/or
Uscn)
About This Section
|
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)
Subcellular location: Cytoplasm. Note=Constituent of the scaffolding of the cornified envelope (By similarity)
Secondary accessions: B2R569Explore the universe of human proteins at neXtProt for CNFN: NX_Q9BYD5
CNFN Protein expression data from MOPED and PaxDb: About this image 
REFSEQ proteins: NP_115877.2
ENSEMBL proteins: ENSP00000222032
Human Recombinant Protein Products:
Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view): About this table
CNFN for ontologies About GeneDecksing
CNFN Antibody Products:
Assay Products for CNFN: |
Protein
Domains /
Families
for CNFN gene(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
|
CNFN for domains About GeneDecksing
1 InterPro domain/family:Graphical View of Domain Structure for InterPro Entry Q9BYD5ProtoNet protein and cluster: Q9BYD5 UniProtKB/Swiss-Prot: CNFN_HUMAN, Q9BYD5Similarity: Belongs to the cornifelin family |
Function
for CNFN gene
(According to 1UniProtKB,
Genatlas,
LifeMap Discovery™,
IUBMB, and/or
2DME,
Human phenotypes from GenomeRNAi,
Animal models from MGI Mar 06 2013,
bound targets from SABiosciences,
miRNA Gene Targets from miRTarBase
shRNA from
OriGene,
RNAi from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
microRNA from QIAGEN,
Gene Editing from DNA2.0,
Clones from EMD Millipore,
OriGene,
SwitchGear Genomics,
GenScript,
Sino Biological,
DNA2.0,
and Vector BioLabs,
Cell Lines from GenScript,
LifeMap BioReagents,
In Situ Hybridization Assays from Advanced Cell Diagnostics,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene.)
About This Section
|
Function Summary:
UniProtKB/Swiss-Prot: CNFN_HUMAN, Q9BYD5Function: Part of the insoluble cornified cell envelope (CE) of stratified squamous epithelia
Clone
Products: |  | Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore | |  | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for CNFN (see all 4)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for CNFN
OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
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Synthesis Service for CNFN | |  | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat CNFN |
1 GenomeRNAi human phenotype for CNFN:
|
Pathways & Interactions
for CNFN gene
(Pathways according to
EMD Millipore,
R&D Systems,
Cell Signaling Technology,
KEGG,
PharmGKB,
BioSystems,
Reactome,
Tocris Bioscience,
GeneGo (Thomson Reuters),
QIAGEN,
and/or UniProtKB,
Sets of similar genes according to GeneDecks,
Interaction Networks according to
SABiosciences,
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 Mar 2013 via
Entrez Gene).
About This Section
|
Interactions:
Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for CNFN
Gene Ontology (GO): 1 biological process term (GO ID links to tree view): About this table | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0031424 | keratinization |
IEA | -- |
CNFN for ontologies About GeneDecksing
|
Drugs & Compounds
for CNFN gene(Chemical Compounds according to UniProtKB, Enzo Life Sciences,
EMD Millipore, Tocris Bioscience
HMDB,
BitterDB, and/or
Novoseek, and Drugs according to
DrugBank,
Enzo Life Sciences, and/or
PharmGKB, with drugs/clinical trials/news
search links to CenterWatch)
About This Section
|
 Browse Tocris compounds for CNFN
Search CenterWatch for drugs/clinical trials and news about CNFN
|
Transcripts
for CNFN gene(Secondary structures according to
fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 235 Homo sapiens; Mar 10 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,
RNAi Products from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
shRNA from
OriGene,
microRNA from QIAGEN,
Tagged/untagged cDNA clones from
OriGene,
SwitchGear Genomics,
GenScript,
DNA2.0,
Vector BioLabs,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN
)
About This Section
|
REFSEQ mRNAs for CNFN gene: NM_032488.3 Unigene Cluster for CNFN: Cornifelin Hs.148590 [show with all ESTs]Unigene Representative Sequence: NM_0324881 Ensembl transcript including schematic representation, and UCSC links where relevant: ENST00000222032(uc002otp.4 uc002otq.4)
Clone
Products: | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for CNFN (see all 4)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for CNFN
OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling
| | | GenScript: all cDNA clones in your preferred vector: CNFN (NM_032488) | | | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for CNFN | | | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat CNFN |
Additional cDNA sequence: AB049591.2 AK312080.1 BC101197.1 BC101198.2 2 DOTS entries: DT.40306952 DT.100891584 14 AceView cDNA sequences: AB049591 NM_032488 AI829783 BU188189 AI818662 AI201964 AJ403107 BE713051 AA583746 AW450840 BF221777 AI916118 BE713133 BU566759
GeneLoc Exon Structure
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Expression
for CNFN gene
(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™,
plus additional links to
Genevestigator, and/or
SOURCE, and/or
BioGPS, and/or
UniProtKB,
PCR Arrays from
SABiosciences,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN,
In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section
| CNFN expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: CGGGAGCGCT
About this image
See CNFN Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for CNFN
SOURCE GeneReport for Unigene cluster: Hs.148590
UniProtKB/Swiss-Prot: CNFN_HUMAN, Q9BYD5Tissue specificity: Abundant in the cervix. Moderately abundant in the uterus and fetal skin. Expression is markedlyincreased in psoriatic skin (18.5 fold increase in comparison with normal skin) and its overexpression alters theprotein composition of cornified cell envelope (CE), but does not affect keratinocyte differentiation. Expressed inthe granular cell layer of epidermis in uninvolved psoriatic skin and in the psoriatic lesions it is found in theupper-spinous layer. Increased expression also seen in atopic dermatitis (14.3 fold increase in comparison with normalskin) and mycosis fungoides (4.6 fold increase in comparison with normal skin) and in both conditions expressed in thegranular cell layer of epidermis
SABiosciences Custom PCR Arrays for CNFN
Primer
Products: | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for CNFN
Browse OriGene validated miRNA SYBR primer pairs
| | | SABiosciences RT2 qPCR Primer Assay in human, mouse, rat CNFN | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat CNFN | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat CNFN |
Orthologs
for CNFN gene
(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)
About This Section
|
This gene was present in the common ancestor of chordates.
Orthologs for CNFN gene from 3/13 species (see all 13) About this table
ENSEMBL Gene Tree for CNFN (if available)
TreeFam Gene Tree for CNFN (if available) |
Paralogs
for CNFN gene(Paralogs according to
1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
About This Section
| Paralogs for CNFN gene
- PLAC8L12 PLAC82
2 SIMAP similar genes for CNFN using alignment to 1 protein entry: CNFN_HUMAN:PLAC8L1 PLAC8
CNFN for paralogs About GeneDecksing
|
Genomic Variants
for CNFN gene(SNPs/Variants according to the
1NCBI SNP Database,
2Ensembl,
3PupaSUITE,
UniProtKB, 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) and the Locus Specific Mutation
Databases (LSDB), Blood group antigen gene mutations by BGMUT,
Resequencing Primers from QIAGEN,
Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section
|
| Genomic Data | Transcription Related Data | Allele Frequencies | | SNP ID | Valid | Clinical
significance | Chr 19 pos | Sequence | # | AA
Chg | Type | More | # | Allele
freq | Pop | Total
sample | More |
|---|
HapMap Linkage Disequilibrium report for CNFN (42891171 - 42894444 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 1 variation for CNFN
1 CNV: 5445 | SABiosciences Cancer Mutation PCR Assays |
| | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing CNFN |
|
Disorders
/ Diseases
for CNFN gene
(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.)
About This Section
|
CNFN for disorders About GeneDecksing
OMIM gene information: 611764
OMIM disorders: --
3  diseases for CNFN: About MalaCardsmycosis fungoides atopic dermatitis dermatitis
Export disorders for CNFN gene to outside databases
|
Publications
for CNFN gene (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)
About This Section
|
PubMed articles for CNFN gene integrated from 9 sources:
(articles sorted by number of sources associating them with CNFN) | |  | Utopia: connect your pdf to the dynamic
world of online information |
- Identification and characterization of a novel component of the cornified envelope, cornifelin. (PubMed id 15147942)1, 2, 9 Michibata H.... Imai Y. (2004)
- 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. (2004)
- 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. (1997)
- Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)2 Ota T.... Sugano S. (2004)
- 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. (2002)
|
External Searches for CNFN gene
(in PubMed,
OMIM, and NCBI Bookshelf)
About This Section
|
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Genome Databases showing CNFN gene
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
Kegg,
and/or
H-InvDB)
About This Section
|
|
Other Databases showing CNFN gene
(According to HUGE)
About This Section
| -- |
Specialized Databases showing CNFN gene(According to PharmGKB,
ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section
|
| Name | Description |
| PharmGKB entry for CNFN | Pharmacogenomics, SNPs, Pathways |
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| | |
About This Section
| 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
|
Products
for CNFN gene(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or
Enzo Life Sciences),
In Situ Hybridization Assays from
Advanced Cell Diagnostics
About This Section
|
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 | |
 |
| | |  | Browse OriGene Antibodies | | OriGene shRNA RFP for CNFN | | | OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for CNFN | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for CNFN | | | OriGene Protein Over-expression Lysate for CNFN | | Browse OriGene Fluorogenic Cell Assay Kits | | | OriGene siRNA for CNFN | | OriGene 3'-UTR Clone for CNFN | | | OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for CNFN | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for CNFN | | | Browse OriGene GFP tagged cDNA clones in CMV expression vector | | Browse OriGene MicroRNA Expression Plasmids | | | Browse OriGene basic RS shRNAs | | Browse OriGene validated miRNA SYBR primer pairs | | | Browse OriGene full length recombinant human proteins expressed in human HEK293 cells | | OriGene custom cloning services - gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling | | | OriGene Custom Antibody Services for CNFN | | OriGene Custom Protein Services for CNFN | | | OriGene Custom Immunoassay Development | | |
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| | | QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat CNFN | | | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing CNFN | | | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat CNFN | | | QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat CNFN | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat CNFN | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat CNFN |
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 | | | CNFN Proteins, Antibodies, CLIAs, and ELISAs |
| | | |  |  |  | | | | Search ThermoFisher Antibodies for CNFN |
| | | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat CNFN |
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