Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	286887
Gene name	Keratin 6C
Gene symbol	KRT6C
Synonyms (NCBI Gene)	K6EKRT6EPPKNEFD
Chromosome	12
Chromosome location	12q13.13
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

Show/Hide all (3)

SNP ID	Visualize variation	Clinical significance	Consequence
rs267607474	TTG>-	Pathogenic, not-provided	Inframe deletion, coding sequence variant
rs267607475	GCAGCTTGCGGTAGGTGGCGATCTCCA>-	Pathogenic, not-provided	Inframe deletion, coding sequence variant
rs587777292	C>T	Pathogenic	Coding sequence variant, missense variant

Show/Hide all (51)

miRTarBase ID	miRNA	Experiments	Reference
MIRT021778	hsa-miR-132-3p	Microarray	17612493
MIRT1101383	hsa-miR-1275	CLIP-seq
MIRT1101384	hsa-miR-1321	CLIP-seq
MIRT1101385	hsa-miR-1908	CLIP-seq
MIRT1101386	hsa-miR-2115	CLIP-seq
MIRT1101387	hsa-miR-3148	CLIP-seq
MIRT1101388	hsa-miR-3162-5p	CLIP-seq
MIRT1101389	hsa-miR-3180	CLIP-seq
MIRT1101390	hsa-miR-3180-3p	CLIP-seq
MIRT1101391	hsa-miR-3190	CLIP-seq
MIRT1101392	hsa-miR-3196	CLIP-seq
MIRT1101393	hsa-miR-3688-3p	CLIP-seq
MIRT1101394	hsa-miR-382	CLIP-seq
MIRT1101395	hsa-miR-4260	CLIP-seq
MIRT1101396	hsa-miR-4270	CLIP-seq
MIRT1101397	hsa-miR-4273	CLIP-seq
MIRT1101398	hsa-miR-4323	CLIP-seq
MIRT1101399	hsa-miR-4441	CLIP-seq
MIRT1101400	hsa-miR-4488	CLIP-seq
MIRT1101401	hsa-miR-4665-5p	CLIP-seq
MIRT1101402	hsa-miR-4677-5p	CLIP-seq
MIRT1101403	hsa-miR-4697-5p	CLIP-seq
MIRT1101404	hsa-miR-4706	CLIP-seq
MIRT1101405	hsa-miR-4734	CLIP-seq
MIRT1101406	hsa-miR-4739	CLIP-seq
MIRT1101407	hsa-miR-4749-5p	CLIP-seq
MIRT1101408	hsa-miR-4756-5p	CLIP-seq
MIRT1101409	hsa-miR-4766-5p	CLIP-seq
MIRT1101410	hsa-miR-4787-5p	CLIP-seq
MIRT1101411	hsa-miR-513a-5p	CLIP-seq
MIRT1101412	hsa-miR-513b	CLIP-seq
MIRT1101413	hsa-miR-516a-3p	CLIP-seq
MIRT1101414	hsa-miR-548u	CLIP-seq
MIRT1101415	hsa-miR-663	CLIP-seq
MIRT1101416	hsa-miR-744	CLIP-seq
MIRT1101417	hsa-miR-892a	CLIP-seq
MIRT1101412	hsa-miR-513b	CLIP-seq
MIRT1101385	hsa-miR-1908	CLIP-seq
MIRT2258898	hsa-miR-2278	CLIP-seq
MIRT1101389	hsa-miR-3180	CLIP-seq
MIRT1101390	hsa-miR-3180-3p	CLIP-seq
MIRT1101392	hsa-miR-3196	CLIP-seq
MIRT2258899	hsa-miR-3919	CLIP-seq
MIRT1101404	hsa-miR-4706	CLIP-seq
MIRT1101405	hsa-miR-4734	CLIP-seq
MIRT1101407	hsa-miR-4749-5p	CLIP-seq
MIRT1101410	hsa-miR-4787-5p	CLIP-seq
MIRT1101412	hsa-miR-513b	CLIP-seq
MIRT2258900	hsa-miR-539	CLIP-seq
MIRT1101415	hsa-miR-663	CLIP-seq
MIRT1101416	hsa-miR-744	CLIP-seq

Show/Hide all (12)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	25416956, 30021884, 32296183
GO:0005829	Component	Cytosol	IEA
GO:0005829	Component	Cytosol	TAS
GO:0005882	Component	Intermediate filament	IEA
GO:0005882	Component	Intermediate filament	NAS	9054461
GO:0030280	Function	Structural constituent of skin epidermis	IBA
GO:0031424	Process	Keratinization	IBA
GO:0045095	Component	Keratin filament	IBA
GO:0045095	Component	Keratin filament	IEA
GO:0045104	Process	Intermediate filament cytoskeleton organization	IMP	23662636
GO:0045109	Process	Intermediate filament organization	IBA
GO:0070062	Component	Extracellular exosome	HDA	23533145

MIM	HGNC	e!Ensembl
612315	20406	ENSG00000170465

P48668

Protein name

Keratin, type II cytoskeletal 6C (Cytokeratin-6C) (CK-6C) (Cytokeratin-6E) (CK-6E) (Keratin K6h) (Keratin-6C) (K6C) (Type-II keratin Kb12)

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF16208	Keratin_2_head	17 → 159	Keratin type II head	Family
PF00038	Filament	162 → 475	Intermediate filament protein	Coiled-coil

Tissue specificity

TISSUE SPECIFICITY: Constitutively expressed in distinct types of epithelia such as those in oral mucosa, esophagus, papillae of tongue and hair follicle outer root sheath.

Sequence

MASTSTTIRSHSSSRRGFSANSARLPGVSRSGFSSISVSRSRGSGGLGGACGGAGFGSRS
LYGLGGSKRISIGGGSCAISGGYGSRAGGSYGFGGAGSGFGFGGGAGIGFGLGGGAGLAG
GFGGPGFPVCPPGGIQEVTVNQSLLTPLNLQIDPAIQRVRAEEREQIKTLNNKFASFIDK
VRFLEQQNKVLDTKWTLLQEQGTKTVRQNLEPLFEQYINNLRRQLDSIVGERGRLDSELR
NMQDLVEDLKNKYEDEINKRTAAENEFVTLKKDVDAAYMNKVELQAKADTLTDEINFLRA
LYDAELSQMQTHISDTSVVLSMDNNRNLDLDSIIAEVKAQYEEIAQRSRAEAESWYQTKY
EELQVTAGRHGDDLRNTKQEIAEINRMIQRLRSEIDHVKKQCASLQAAIADAEQRGEMAL
KDAKNKLEGLEDALQKAKQDLARLLKEYQELMNVKLALDVEIATYRKLLEGEECRLNGEG
VGQVNVSVVQSTISSGYGGASGVGSGLGLGGGSSYSYGSGLGIGGGFSSSSGRAIGGGLS
SVGGGSSTIKYTTTSSSSRKSYKH

Sequence length

564

Interactions

View interactions

	Reactome
			Keratinization Formation of the cornified envelope

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Causal Diseases (2)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Focal palmoplantar keratoderma	Pathogenic	rs267607474, rs267607475	RCV001799618 RCV001799616	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Palmoplantar keratoderma, nonepidermolytic, focal or diffuse	Likely pathogenic; Pathogenic	rs587777292	RCV000114418	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (3)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
AUTOSOMAL DOMINANT FOCAL NON-EPIDERMOLYTIC PALMOPLANTAR KERATODERMA WITH PLANTAR BLISTERING	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EBV-positive nodal T- and NK-cell lymphoma	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
KRT6C-related disorder	Likely benign; Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (20)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Autosomal dominant focal non-epidermolytic palmoplantar keratoderma with plantar blistering	Focal Non-Epidermolytic Palmoplantar Keratoderma With Plantar Blistering	Orphanet			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Carcinoma Basal Cell	Basal cell carcinoma	Pubtator	31047981	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Squamous Cell	Squamous cell carcinoma	Pubtator	20839314	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma, Ovarian Epithelial	Ovarian Epithelial carcinoma	BEFREE	28147318		★★★★★ ★☆☆☆☆ Found in Text Mining only
Dystrophia unguium	Nail dystrophy	GENOMICS_ENGLAND_DG	19609311		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hyperkeratosis	Hyperkeratosis	BEFREE	21801157		★★★★★ ★☆☆☆☆ Found in Text Mining only
Keratoderma, Palmoplantar	Palmoplantar keratoderma	BEFREE	21801157		★★★★★ ★☆☆☆☆ Found in Text Mining only
Keratoderma, Palmoplantar	Palmoplantar keratoderma	GENOMICS_ENGLAND_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Keratoderma, Palmoplantar	Palmoplantar keratoderma	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	28619761	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of ovary	Ovarian cancer	BEFREE	28147318		★★★★★ ★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	BEFREE	28147318		★★★★★ ★☆☆☆☆ Found in Text Mining only
Pachyonychia Congenita	Pachyonychia Congenita	BEFREE	20081885, 29357356, 31777952, 31823354		★★★★★ ★☆☆☆☆ Found in Text Mining only
Pachyonychia Congenita	Pachyonychia congenita	Pubtator	24611874, 28648685, 34116063, 34724947, 36116508, 36658016	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
PALMOPLANTAR KERATODERMA, NONEPIDERMOLYTIC, FOCAL 1	Nonepidermolytic palmoplantar keratoderma	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
PALMOPLANTAR KERATODERMA, NONEPIDERMOLYTIC, FOCAL OR DIFFUSE	Nonepidermolytic palmoplantar keratoderma	ORPHANET_DG	19609311, 21801157		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
PALMOPLANTAR KERATODERMA, NONEPIDERMOLYTIC, FOCAL OR DIFFUSE	Nonepidermolytic palmoplantar keratoderma	GENOMICS_ENGLAND_DG	19609311		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
PALMOPLANTAR KERATODERMA, NONEPIDERMOLYTIC, FOCAL OR DIFFUSE	Nonepidermolytic palmoplantar keratoderma	UNIPROT_DG	19609311, 21801157, 23662636		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
PALMOPLANTAR KERATODERMA, NONEPIDERMOLYTIC, FOCAL OR DIFFUSE	Nonepidermolytic palmoplantar keratoderma	CLINVAR_DG			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
PALMOPLANTAR KERATODERMA, NONEPIDERMOLYTIC, FOCAL OR DIFFUSE	Nonepidermolytic palmoplantar keratoderma	CTD_human_DG			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

KRT6C (keratin 6C)