CNFN cornifelin [Homo sapiens (human)] - Gene

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, Dec 2024]
Expression: Biased expression in esophagus (RPKM 174.2) and skin (RPKM 39.8) See more
Orthologs: mouse all
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Genomic context

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_000019.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Expression

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See details

Project title: Tissue-specific circular RNA induction during human fetal development
Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
BioProject: PRJNA270632
Publication: PMID 26076956
Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Entorhinal cortex epigenome-wide association study highlights four novel loci showing differential methylation in Alzheimer's disease.
Title: Entorhinal cortex epigenome-wide association study highlights four novel loci showing differential methylation in Alzheimer's disease.

Submit: New GeneRIF Correction

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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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

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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.