KRT6C keratin 6C [Homo sapiens (human)] - Gene

Summary

Official Symbol: KRT6Cprovided by HGNC
Official Full Name: keratin 6Cprovided by HGNC
Primary source: HGNC:HGNC:20406
See related: Ensembl:ENSG00000170465 MIM:612315; AllianceGenome:HGNC:20406
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: K6E; KRT6E; PPKNEFD
Summary: Keratins are intermediate filament proteins responsible for the structural integrity of epithelial cells and are subdivided into epithelial keratins and hair keratins. The type II keratins are clustered in a region of chromosome 12q13. [provided by RefSeq, Jul 2009]
Expression: Restricted expression toward esophagus (RPKM 948.5) See more
Orthologs: all
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Genomic context

Location:: 12q13.13

Exon count:: 9

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	12	NC_000012.12 (52468516..52473805, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	12	NC_060936.1 (52433115..52438404, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	12	NC_000012.11 (52862300..52867589, complement)

Chromosome 12 - NC_000012.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

KRT6C was highly expressed in lung adenocarcinoma (LUAD) patients. The relevance between high expression of KRT6C and poor prognosis of LUAD patients was found in this study.
Title: High expression of keratin 6C is associated with poor prognosis and accelerates cancer proliferation and migration by modulating epithelial-mesenchymal transition in lung adenocarcinoma.
Several missense polymorphisms in KRT6A, KRT6B and KRT6C that lead to a higher risk for dental caries.
Title: Genetic variants in pachyonychia congenita-associated keratins increase susceptibility to tooth decay.
report on a novel mutation of KRT6C and highlight the inclusion of focal PPK secondary to KRT16 and KRT6C mutations as a milder phenotype within the spectrum of PC
Title: Focal PPK secondary to a novel KRT6C mutation (Pachyonychia congenita-K6c).
mutation c.1414G>A resulting in an p.Glu472Lys substitution associated with focal plantar keratoderma
Title: Collapse of the keratin filament network through the expression of mutant keratin 6c observed in a case of focal plantar keratoderma.
Keratin K6c mutations cause focal palmoplantar keratoderma
Title: Keratin K6c mutations cause focal palmoplantar keratoderma.
KRT6C mutations may have a role in focal palmoplantar keratoderma [commentary]
Title: Mutations in a keratin 6 isomer (K6c) cause a type of focal palmoplantar keratoderma.

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

Associated conditions

Description	Tests
Palmoplantar keratoderma, nonepidermolytic, focal or diffuse MedGen: C3810394 OMIM: 615735 GeneReviews: Pachyonychia Congenita	Compare labs

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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Markers

BARC0027 (e-PCR)
- UniSTS:255312

G64257 (e-PCR)
- UniSTS:166790

SHGC-35512 (e-PCR)
- UniSTS:57228

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables structural constituent of skin epidermis	IBA Inferred from Biological aspect of Ancestor more info

Process	Evidence Code	Pubs
involved_in intermediate filament cytoskeleton organization	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in intermediate filament organization	IBA Inferred from Biological aspect of Ancestor more info
involved_in keratinization	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
located_in cytosol	TAS Traceable Author Statement more info
located_in extracellular exosome	HDA more info	PubMed
located_in intermediate filament	NAS Non-traceable Author Statement more info	PubMed
is_active_in keratin filament	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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Preferred Names: keratin, type II cytoskeletal 6C

Names: CK-6C; CK-6E; K6C; cytokeratin-6C; cytokeratin-6E; keratin 6C, type II; keratin 6E; keratin K6h; type-II keratin Kb12

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.