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    CNFN cornifelin [ Homo sapiens (human) ]

    Gene ID: 84518, updated on 27-Nov-2024

    Summary

    Official Symbol
    CNFNprovided by HGNC
    Official Full Name
    cornifelinprovided by HGNC
    Primary source
    HGNC:HGNC:30183
    See related
    Ensembl:ENSG00000105427 MIM:611764; AllianceGenome:HGNC:30183
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    PLAC8L2
    Summary
    Predicted to be involved in keratinization. Located in cornified envelope. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Biased expression in esophagus (RPKM 174.2) and skin (RPKM 39.8) See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See CNFN in Genome Data Viewer
    Location:
    19q13.2
    Exon count:
    5
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (42387019..42390297, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (45206404..45209682, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (42891171..42894449, complement)

    Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10707 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:42818801-42819301 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10708 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10709 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10710 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10711 Neighboring gene transmembrane protein 145 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:42853955-42854456 Neighboring gene multiple EGF like domains 8 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:42866515-42867014 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:42873179-42874132 Neighboring gene microRNA 8077 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10713 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10712 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14715 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:42901001-42901684 Neighboring gene uncharacterized LOC101930071 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:42901685-42902368 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10714 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:42910752-42911558 Neighboring gene LIPE antisense RNA 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14717 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14718 Neighboring gene lipase E, hormone sensitive type Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10715 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10716 Neighboring gene C-X-C motif chemokine ligand 17

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in keratinization IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    is_active_in cornified envelope IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in cornified envelope IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in cytoplasm IEA
    Inferred from Electronic Annotation
    more info
     

    General protein information

    Preferred Names
    cornifelin
    Names
    cornefied envelope protein cornefilin

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_032488.4NP_115877.2  cornifelin

      See identical proteins and their annotated locations for NP_115877.2

      Status: VALIDATED

      Source sequence(s)
      AB049591, AC011497, AK312080
      Consensus CDS
      CCDS12606.1
      UniProtKB/Swiss-Prot
      B2R569, Q9BYD5
      Related
      ENSP00000222032.4, ENST00000222032.10
      Conserved Domains (1) summary
      TIGR01571
      Location:22110
      A_thal_Cys_rich; uncharacterized Cys-rich domain

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000019.10 Reference GRCh38.p14 Primary Assembly

      Range
      42387019..42390297 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011527397.3XP_011525699.1  cornifelin isoform X1

      See identical proteins and their annotated locations for XP_011525699.1

      Conserved Domains (1) summary
      TIGR01571
      Location:35123
      A_thal_Cys_rich; uncharacterized Cys-rich domain
    2. XM_005259332.4XP_005259389.1  cornifelin isoform X1

      See identical proteins and their annotated locations for XP_005259389.1

      Conserved Domains (1) summary
      TIGR01571
      Location:35123
      A_thal_Cys_rich; uncharacterized Cys-rich domain
    3. XM_011527396.3XP_011525698.1  cornifelin isoform X1

      See identical proteins and their annotated locations for XP_011525698.1

      Conserved Domains (1) summary
      TIGR01571
      Location:35123
      A_thal_Cys_rich; uncharacterized Cys-rich domain

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060943.1 Alternate T2T-CHM13v2.0

      Range
      45206404..45209682 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054322364.1XP_054178339.1  cornifelin isoform X1

    2. XM_054322363.1XP_054178338.1  cornifelin isoform X1

    3. XM_054322365.1XP_054178340.1  cornifelin isoform X1