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	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Adenocarcinoma	Adenocarcinoma	BEFREE	30401712		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of lung (disorder)	Lung adenocarcinoma	BEFREE	29069744		★☆☆☆☆ Found in Text Mining only
Alopecia	Alopecia	HPO_DG			★☆☆☆☆ Found in Text Mining only
ANONYCHIA	Anonychia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	Pubtator	31430856, 32460303	Associate	★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	15741235, 21532625		★☆☆☆☆ Found in Text Mining only
Bronchopulmonary Dysplasia	Bronchopulmonary dysplasia	Pubtator	37147394	Associate	★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	35311447	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Basal Cell	Basal cell carcinoma	Pubtator	31047981	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	31272500	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Pancreatic Ductal	Pancreatic ductal carcinoma	Pubtator	30092011, 33221741, 38613239	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Squamous Cell	Squamous cell carcinoma	Pubtator	19176476, 34504628, 37442189	Associate	★☆☆☆☆ Found in Text Mining only
Cataract	Cataract	HPO_DG			★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	37647260	Associate	★☆☆☆☆ Found in Text Mining only
Corneal dystrophy	Corneal Dystrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cyst	Cyst	BEFREE	22264670		★☆☆☆☆ Found in Text Mining only
Dementia, Vascular	Dementia	BEFREE	28852399		★☆☆☆☆ Found in Text Mining only
Dermatologic disorders	Dermatologic Disorders	BEFREE	17914454		★☆☆☆☆ Found in Text Mining only
Dystrophia unguium	Nail dystrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Gingivitis	Gingivitis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hyperkeratosis	Hyperkeratosis	BEFREE	30307612		★☆☆☆☆ Found in Text Mining only
Hypothyroidism	Hypothyroidism	BEFREE	14736740		★☆☆☆☆ Found in Text Mining only
Hypoxia	Hypoxia	Pubtator	37081097	Associate	★☆☆☆☆ Found in Text Mining only
Ichthyoses	Ichthyosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Impaired cognition	Impaired Cognition	HPO_DG			★☆☆☆☆ Found in Text Mining only
Keratoconus	Keratoconus	Pubtator	23727491	Associate	★☆☆☆☆ Found in Text Mining only
Keratoderma, Palmoplantar	Palmoplantar keratoderma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Keratosis	Keratosis	BEFREE	27041546		★☆☆☆☆ Found in Text Mining only
Laryngomalacia	Laryngomalacia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Leukoplakia, Oral	Leukoplakia	BEFREE	22264670, 31823354		★☆☆☆☆ Found in Text Mining only
Leukoplakia, Oral	Leukoplakia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	28619761	Stimulate	★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	32329414	Associate	★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	36793937	Associate	★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	15741235, 21532625		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of liver	Liver Cancer	BEFREE	31272500		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	12460893		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of urinary bladder	Urinary bladder cancer	BEFREE	25284287		★☆☆☆☆ Found in Text Mining only
Melanoma	Melanoma	Pubtator	32934956	Associate	★☆☆☆☆ Found in Text Mining only
Melanoma Cutaneous Malignant	Melanoma	Pubtator	32934956	Associate	★☆☆☆☆ Found in Text Mining only
Nasopharyngeal carcinoma	Nasopharyngeal Carcinoma	BEFREE	30896882		★☆☆☆☆ Found in Text Mining only
Nasopharyngeal Carcinoma	Nasopharyngeal carcinoma	Pubtator	30896882	Stimulate	★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	21532625, 28376177, 29432691		★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	BEFREE	15741235		★☆☆☆☆ Found in Text Mining only
Onychogryposis	Onychogryposis	BEFREE	31364784		★☆☆☆☆ Found in Text Mining only
Onychogryposis	Onychogryposis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Pachyonychia Congenita	Pachyonychia congenita	Pubtator	11886499, 17511954, 18071332, 19609311, 19935778, 21160496, 21191405, 21248764, 21326300, 21390048, 24611874, 25656049, 26087092, 28648685, 34724947, 36116508, 36658016	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Pachyonychia Congenita	Pachyonychia Congenita	BEFREE	12823309, 17914454, 18495438, 21150925, 21160496, 21248764, 21326300, 21390048, 21430705, 21576551, 21790523, 22098151, 26087092, 27041546, 27776012, 29357356, 30255608, 30307612, 31777952, 31823354, 31845382		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Pachyonychia Congenita	Pachyonychia Congenita	LHGDN	17719747		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Pachyonychia congenita	Pachyonychia Congenita	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Pachyonychia Congenita	Pachyonychia Congenita	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PACHYONYCHIA CONGENITA 3	Pachyonychia Congenita	UNIPROT_DG	10232400, 11886499, 15387942, 15840119, 16250206, 17309457, 17719747, 18489596, 19416275, 21326300, 22668561, 7545493		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
PACHYONYCHIA CONGENITA 3	Pachyonychia Congenita	CLINVAR_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Pachyonychia Congenita, Jadassohn Lewandowsky Type	Pachyonychia Congenita	BEFREE	10232400, 17309457, 22668561		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Pachyonychia Congenita, Jadassohn Lewandowsky Type	Pachyonychia Congenita	GENOMICS_ENGLAND_DG	22098151		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Pachyonychia Congenita, Jadassohn Lewandowsky Type	Pachyonychia Congenita	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Pachyonychia Congenita, Type 2 (disorder)	Pachyonychia Congenita	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Palmar hyperkeratosis	Palmar hyperkeratosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Palmoplantar Keratosis	Palmoplantar Keratosis	BEFREE	31364784		★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	30092011, 37260110, 38613239	Associate	★☆☆☆☆ Found in Text Mining only
Phrynoderma	Phrynoderma	BEFREE	30307612		★☆☆☆☆ Found in Text Mining only
Prostatic Hyperplasia	Prostatic hyperplasia	Pubtator	15819412	Associate	★☆☆☆☆ Found in Text Mining only
Rhinitis	Rhinitis	Pubtator	32460303	Associate	★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	BEFREE	29069744, 30914778		★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	12460893		★☆☆☆☆ Found in Text Mining only
Urinary Bladder Neoplasms	Urinary bladder neoplasms	Pubtator	35311447	Stimulate	★☆☆☆☆ Found in Text Mining only