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

Gene Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	286887
Gene name Gene Name - the full gene name approved by the HGNC.	Keratin 6C
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	KRT6C
Synonyms (NCBI Gene) Gene synonyms aliases	K6E, KRT6E, PPKNEFD
Chromosome Chromosome number	12
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	12q13.13
Summary Summary of gene provided in NCBI Entrez Gene.	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

Protein

UniProt ID

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

Show/Hide Causal Diseases (1)

Disease merge term	Disease name	dbSNP ID	References
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Nonepidermolytic palmoplantar keratoderma	palmoplantar keratoderma, nonepidermolytic, focal or diffuse	rs587777292	N/A

Show/Hide Text Mining Associations (8)

Disease Name	Relationship Type	References
Associations from Text Mining Disease associations identified through Pubtator
Adenocarcinoma	Associate	20839314
Carcinoma Basal Cell	Associate	31047981
Carcinoma Squamous Cell	Associate	20839314
Hyperkeratosis of the palms and soles and esophageal papillomas	Associate	19609311
Keratoderma Palmoplantar	Associate	19609311
Lung Neoplasms	Associate	28619761
Neoplasms	Associate	19509549
Pachyonychia Congenita	Associate	24611874, 28648685, 34116063, 34724947, 36116508, 36658016

KRT6C (keratin 6C)