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CNFN cornifelin [ Homo sapiens (human) ]

Gene ID: 84518, updated on 23-Nov-2021

Summary

Official Symbol
CNFNprovided by HGNC
Official Full Name
cornifelinprovided by HGNC
Primary source
HGNC:HGNC:30183
See related
Ensembl:ENSG00000105427 MIM:611764
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
Expression
Biased expression in esophagus (RPKM 174.2) and skin (RPKM 39.8) See more
Orthologs
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Genomic context

See CNFN in Genome Data Viewer
Location:
19q13.2
Exon count:
5
Annotation release Status Assembly Chr Location
109.20211119 current GRCh38.p13 (GCF_000001405.39) 19 NC_000019.10 (42387019..42390318, complement)
105.20201022 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 transmembrane protein 145 Neighboring gene multiple EGF like domains 8 Neighboring gene microRNA 8077 Neighboring gene uncharacterized LOC101930071 Neighboring gene LIPE antisense RNA 1 Neighboring gene lipase E, hormone sensitive type 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

Homology

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
PubMed 
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)

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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
    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: Homo sapiens Updated Annotation Release 109.20211119

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000019.10 Reference GRCh38.p13 Primary Assembly

    Range
    42387019..42390318 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005259332.3XP_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
  2. XM_011527397.2XP_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
  3. XM_011527396.2XP_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
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