KRT6A (keratin 6A)

Gene

• Entrez ID: 3853
• Gene name: Keratin 6A
• Gene symbol: KRT6A
• Synonyms (NCBI Gene): CK-6C, CK-6E, CK6A, CK6C, CK6D, K6A, K6C, K6D, KRT6C, KRT6D, PC3
• Chromosome: 12
• Chromosome location: 12q13.13
• Summary: The protein encoded by this gene is a member of the keratin gene family. The type II cytokeratins consist of basic or neutral proteins which are arranged in pairs of heterotypic keratin chains coexpressed during differentiation of simple and stratified ep

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs28933087	A>C,G	Not-provided, pathogenic	Missense variant, coding sequence variant
rs57052654	A>C,G	Not-provided, pathogenic	Missense variant, coding sequence variant
rs57448541	G>A	Pathogenic	Missense variant, coding sequence variant
rs57629991	A>C,T	Not-provided, pathogenic	Missense variant, coding sequence variant
rs58556099	T>C,G	Not-provided, pathogenic	Missense variant, coding sequence variant
rs59685571	G>T	Pathogenic	Missense variant, coding sequence variant
rs60554162	C>T	Pathogenic	Missense variant, coding sequence variant
rs61145796	A>C,G	Not-provided, pathogenic	Missense variant, coding sequence variant
rs62635294	T>A,C,G	Not-provided, pathogenic	Missense variant, coding sequence variant
rs113369052	T>A,G	Pathogenic	Splice acceptor variant
rs267607462	C>G,T	Pathogenic	Missense variant, coding sequence variant
rs267607463	A>G	Pathogenic	Missense variant, coding sequence variant
rs267607464	C>T	Pathogenic	Missense variant, coding sequence variant
rs267607468	C>A,G,T	Pathogenic, not-provided	Missense variant, stop gained, coding sequence variant
rs606231214	TTG>-	Pathogenic	Coding sequence variant, inframe deletion
rs1064793417	AAG>-	Pathogenic	Inframe deletion, coding sequence variant
rs1318088507	G>A,C	Pathogenic	Coding sequence variant, missense variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT1101377	hsa-miR-3128	CLIP-seq
MIRT1101378	hsa-miR-331-3p	CLIP-seq
MIRT1101379	hsa-miR-4438	CLIP-seq
MIRT1101380	hsa-miR-4756-3p	CLIP-seq
MIRT1101381	hsa-miR-4766-5p	CLIP-seq
MIRT1101382	hsa-miR-5095	CLIP-seq
MIRT1101380	hsa-miR-4756-3p	CLIP-seq
MIRT2452758	hsa-miR-1254	CLIP-seq
MIRT2452759	hsa-miR-1293	CLIP-seq
MIRT2452760	hsa-miR-3116	CLIP-seq
MIRT2452761	hsa-miR-4447	CLIP-seq
MIRT2452762	hsa-miR-4472	CLIP-seq
MIRT2452763	hsa-miR-4483	CLIP-seq
MIRT2452764	hsa-miR-661	CLIP-seq
MIRT2559523	hsa-miR-3150b-3p	CLIP-seq
MIRT2559524	hsa-miR-4689	CLIP-seq
MIRT2559525	hsa-miR-4721	CLIP-seq
MIRT2559526	hsa-miR-4784	CLIP-seq
MIRT2559527	hsa-miR-544b	CLIP-seq
MIRT2559528	hsa-miR-548an	CLIP-seq
MIRT2559523	hsa-miR-3150b-3p	CLIP-seq
MIRT2559524	hsa-miR-4689	CLIP-seq
MIRT2559525	hsa-miR-4721	CLIP-seq
MIRT2559526	hsa-miR-4784	CLIP-seq
MIRT2559527	hsa-miR-544b	CLIP-seq
MIRT2559528	hsa-miR-548an	CLIP-seq
MIRT2683694	hsa-miR-760	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0002009	Process	Morphogenesis of an epithelium	ISS
GO:0005200	Function	Structural constituent of cytoskeleton	NAS	7543104
GO:0005515	Function	Protein binding	IPI	15731013, 16189514, 25416956, 25910212, 26871637, 29892012, 31515488, 32296183, 32814053
GO:0005634	Component	Nucleus	HDA	21630459
GO:0005829	Component	Cytosol	IEA
GO:0005829	Component	Cytosol	TAS
GO:0005882	Component	Intermediate filament	IEA
GO:0008284	Process	Positive regulation of cell population proliferation	NAS	7543104
GO:0016020	Component	Membrane	HDA	19946888
GO:0030154	Process	Cell differentiation	NAS	7543104
GO:0030280	Function	Structural constituent of skin epidermis	IBA
GO:0031424	Process	Keratinization	IBA
GO:0031640	Process	Killing of cells of another organism	IDA	23006328
GO:0031640	Process	Killing of cells of another organism	IMP	23006328
GO:0042060	Process	Wound healing	ISS
GO:0045095	Component	Keratin filament	IBA
GO:0045095	Component	Keratin filament	IEA
GO:0045109	Process	Intermediate filament organization	IBA
GO:0050830	Process	Defense response to Gram-positive bacterium	IDA	23006328
GO:0050830	Process	Defense response to Gram-positive bacterium	IMP	23006328
GO:0061844	Process	Antimicrobial humoral immune response mediated by antimicrobial peptide	IDA	23006328
GO:0061844	Process	Antimicrobial humoral immune response mediated by antimicrobial peptide	IMP	23006328
GO:0070062	Component	Extracellular exosome	HDA	19199708, 23533145
GO:2000536	Process	Negative regulation of entry of bacterium into host cell	IDA	23006328

Other IDs

• MIM: 148041
• HGNC: 6443
• e!Ensembl: ENSG00000205420

Protein

• UniProt ID: P02538
• Protein name: Keratin, type II cytoskeletal 6A (Cytokeratin-6A) (CK-6A) (Cytokeratin-6D) (CK-6D) (Keratin-6A) (K6A) (Type-II keratin Kb6) (allergen Hom s 5)
• Protein function: Epidermis-specific type I keratin involved in wound healing. Involved in the activation of follicular keratinocytes after wounding, while it does not play a major role in keratinocyte proliferation or migration. Participates in the regulation of
• PDB: 5KI0
• 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: Expressed in the corneal epithelium (at protein level). {ECO:0000269|PubMed:26758872}.
• Sequence:

  MASTSTTIRSHSSSRRGFSANSARLPGVSRSGFSSVSVSRSRGSGGLGGACGGAGFGSRS
  LYGLGGSKRISIGGGSCAISGGYGSRAGGSYGFGGAGSGFGFGGGAGIGFGLGGGAGLAG
  GFGGPGFPVCPPGGIQEVTVNQSLLTPLNLQIDPTIQRVRAEEREQIKTLNNKFASFIDK
  VRFLEQQNKVLETKWTLLQEQGTKTVRQNLEPLFEQYINNLRRQLDSIVGERGRLDSELR
  GMQDLVEDFKNKYEDEINKRTAAENEFVTLKKDVDAAYMNKVELQAKADTLTDEINFLRA
  LYDAELSQMQTHISDTSVVLSMDNNRNLDLDSIIAEVKAQYEEIAQRSRAEAESWYQTKY
  EELQVTAGRHGDDLRNTKQEIAEINRMIQRLRSEIDHVKKQCANLQAAIADAEQRGEMAL
  KDAKNKLEGLEDALQKAKQDLARLLKEYQELMNVKLALDVEIATYRKLLEGEECRLNGEG
  VGQVNISVVQSTVSSGYGGASGVGSGLGLGGGSSYSYGSGLGVGGGFSSSSGRAIGGGLS
  SVGGGSSTIKYTTTSSSSRKSYKH

• Sequence length: 564

Pathways

Reactome:

Keratinization
Formation of the cornified envelope

Associated diseases

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)

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Pachyonychia congenita 3	Likely pathogenic; Pathogenic	rs113369052, rs2498491241, rs606231214, rs28933087, rs60554162, rs57052654, rs267607468, rs267607464, rs57126929, rs62635294, rs58556099, rs59685571, rs61145796	RCV000144079 RCV002470574 RCV000015740 RCV000015741 RCV000015742 RCV000015743 RCV005007986 RCV000144075 RCV005624313 RCV004703204 RCV000128818 RCV000128820 RCV000128821 RCV000144078 RCV001027734	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
BASAL CELL CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CUTANEOUS SQUAMOUS CELL CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
KRT6A-related disorder	Likely benign; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PACHYONYCHIA CONGENITA	—	CTD, Disgenet, GWAS catalog, Orphanet CTD, Disgenet, GWAS catalog, Orphanet CTD, Disgenet, GWAS catalog, Orphanet CTD, Disgenet, GWAS catalog, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PACHYONYCHIA CONGENITA, JADASSOHN LEWANDOWSKY TYPE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PACHYONYCHIA CONGENITA, TYPE 2	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Papillary renal cell carcinoma type 1	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SEBORRHEIC KERATOSIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SKIN DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Relationship Type	References	Evidence Score
Adenocarcinoma of Lung	Associate	32329414, 36793937, 37081097, 37199651, 37643778, 37974107, 38240936, 40486872	★☆☆☆☆ Found in Text Mining only
Adrenocortical Adenoma	Associate	31419939	★☆☆☆☆ Found in Text Mining only
Asthma	Associate	31430856, 32460303	★☆☆☆☆ Found in Text Mining only
Bronchopulmonary Dysplasia	Associate	37147394	★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Associate	35311447	★☆☆☆☆ Found in Text Mining only
Carcinoma Basal Cell	Associate	31047981	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Associate	31272500	★☆☆☆☆ Found in Text Mining only
Carcinoma Non Small Cell Lung	Associate	30914778	★☆☆☆☆ Found in Text Mining only
Carcinoma Pancreatic Ductal	Associate	30092011, 33221741, 38613239	★☆☆☆☆ Found in Text Mining only
Carcinoma Squamous Cell	Associate	19176476, 34504628, 37442189	★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Associate	37647260	★☆☆☆☆ Found in Text Mining only
Hypoxia	Associate	37081097	★☆☆☆☆ Found in Text Mining only
Infarction Anterior Cerebral Artery	Associate	31419939	★☆☆☆☆ Found in Text Mining only
Keratoconus	Associate	23727491	★☆☆☆☆ Found in Text Mining only
Keratoderma Palmoplantar	Associate	34724947	★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Stimulate	28619761	★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Associate	32329414	★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Associate	36793937	★☆☆☆☆ Found in Text Mining only
Melanoma	Associate	32934956	★☆☆☆☆ Found in Text Mining only
Melanoma Cutaneous Malignant	Associate	32934956	★☆☆☆☆ Found in Text Mining only
Nail Diseases	Associate	19609311	★☆☆☆☆ Found in Text Mining only
Nasopharyngeal Carcinoma	Stimulate	30896882	★☆☆☆☆ Found in Text Mining only
Neoplasm Metastasis	Stimulate	30896882	★☆☆☆☆ Found in Text Mining only
Neoplasm Metastasis	Associate	32329414	★☆☆☆☆ Found in Text Mining only
Neoplasms	Associate	32329414, 33221741, 37260110, 37817112, 38613239	★☆☆☆☆ Found in Text Mining only
Neoplasms Glandular and Epithelial	Associate	37044260	★☆☆☆☆ Found in Text Mining only
Nevus	Associate	32934956	★☆☆☆☆ Found in Text Mining only
Nevus Pigmented	Associate	32934956	★☆☆☆☆ Found in Text Mining only
Pachyonychia Congenita	Associate	11886499, 17511954, 18071332, 19609311, 19935778, 21160496, 21191405, 21248764, 21326300, 21390048, 24611874, 25656049, 26087092, 28648685, 34724947, 36116508, 36658016	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Pancreatic Neoplasms	Associate	30092011, 37260110, 38613239	★☆☆☆☆ Found in Text Mining only
Prostatic Hyperplasia	Associate	15819412	★☆☆☆☆ Found in Text Mining only
Prostatitis	Associate	15819412	★☆☆☆☆ Found in Text Mining only
Rhinitis	Associate	32460303	★☆☆☆☆ Found in Text Mining only
Urinary Bladder Neoplasms	Stimulate	35311447	★☆☆☆☆ Found in Text Mining only