KRT6B (keratin 6B)

Gene

• Entrez ID: 3854
• Gene name: Keratin 6B
• Gene symbol: KRT6B
• Synonyms (NCBI Gene): CK-6B, CK6B, K6B, KRTL1, PC2, PC4
• 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
rs60627726	C>T	Pathogenic	Missense variant, coding sequence variant
rs267607472	TTG>-	Pathogenic	Inframe deletion, coding sequence variant
rs267607473	C>T	Pathogenic	Missense variant, coding sequence variant
rs1131691901	A>T	Likely-pathogenic	Missense variant, coding sequence variant
rs1592169234	A>C	Pathogenic	Missense variant, coding sequence variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT020647	hsa-miR-155-5p	Proteomics	18668040
MIRT028499	hsa-miR-30a-5p	Proteomics	18668040
MIRT2258890	hsa-miR-1200	CLIP-seq
MIRT2258891	hsa-miR-3659	CLIP-seq
MIRT2258892	hsa-miR-4280	CLIP-seq
MIRT2258893	hsa-miR-4324	CLIP-seq
MIRT2258894	hsa-miR-4506	CLIP-seq
MIRT2258895	hsa-miR-4658	CLIP-seq
MIRT2258896	hsa-miR-544b	CLIP-seq
MIRT2258897	hsa-miR-574-5p	CLIP-seq
MIRT2559529	hsa-miR-3150b-3p	CLIP-seq
MIRT2559530	hsa-miR-4689	CLIP-seq
MIRT2559531	hsa-miR-4721	CLIP-seq
MIRT2559532	hsa-miR-4784	CLIP-seq
MIRT2258896	hsa-miR-544b	CLIP-seq
MIRT2559529	hsa-miR-3150b-3p	CLIP-seq
MIRT2559530	hsa-miR-4689	CLIP-seq
MIRT2559531	hsa-miR-4721	CLIP-seq
MIRT2559532	hsa-miR-4784	CLIP-seq
MIRT2258896	hsa-miR-544b	CLIP-seq
MIRT2683695	hsa-miR-760	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005200	Function	Structural constituent of cytoskeleton	TAS	9618173
GO:0005515	Function	Protein binding	IPI	16189514, 25416956, 32296183
GO:0005829	Component	Cytosol	IEA
GO:0005829	Component	Cytosol	TAS
GO:0005882	Component	Intermediate filament	IEA
GO:0007398	Process	Ectoderm development	TAS	9618173
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:0045109	Process	Intermediate filament organization	IBA
GO:0070062	Component	Extracellular exosome	HDA	19199708

Other IDs

• MIM: 148042
• HGNC: 6444
• e!Ensembl: ENSG00000185479

Protein

• UniProt ID: P04259
• Protein name: Keratin, type II cytoskeletal 6B (Cytokeratin-6B) (CK-6B) (Keratin-6B) (K6B) (Type-II keratin Kb10)
• 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
  VRFLEQQNKVLDTKWTLLQEQGTKTVRQNLEPLFEQYINNLRRQLDNIVGERGRLDSELR
  NMQDLVEDLKNKYEDEINKRTAAENEFVTLKKDVDAAYMNKVELQAKADTLTDEINFLRA
  LYDAELSQMQTHISDTSVVLSMDNNRNLDLDSIIAEVKAQYEEIAQRSRAEAESWYQTKY
  EELQITAGRHGDDLRNTKQEIAEINRMIQRLRSEIDHVKKQCANLQAAIADAEQRGEMAL
  KDAKNKLEGLEDALQKAKQDLARLLKEYQELMNVKLALDVEIATYRKLLEGEECRLNGEG
  VGQVNISVVQSTVSSGYGGASGVGSGLGLGGGSSYSYGSGLGVGGGFSSSSGRATGGGLS
  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 4	Pathogenic; Likely pathogenic	rs60627726, rs267607473, rs267607472, rs1592169234	RCV000015739 RCV002483085 RCV002496747 RCV001007639	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
CARCINOMA, SQUAMOUS CELL	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIABETIC NEPHROPATHY	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
KRT6B-related disorder	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MOUTH NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PACHYONYCHIA CONGENITA	—	CTD, Disgenet, Orphanet CTD, Disgenet, Orphanet CTD, Disgenet, Orphanet CTD, Disgenet, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Pachyonychia congenita 2	Benign	ClinVar	★★☆☆☆ 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
Uterine carcinosarcoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Adenocarcinoma of lung (disorder)	Lung adenocarcinoma	BEFREE	29069744		★☆☆☆☆ Found in Text Mining only
Adrenal Gland Pheochromocytoma	Adrenal Gland Pheochromocytoma	BEFREE	22217803		★☆☆☆☆ Found in Text Mining only
Alopecia	Alopecia	HPO_DG			★☆☆☆☆ Found in Text Mining only
ANONYCHIA	Anonychia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Bladder Neoplasm	Bladder Neoplasm	BEFREE	31092844		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	25012653, 40650045	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Basal Cell	Basal cell carcinoma	Pubtator	31047981	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma of bladder	Bladder carcinoma	BEFREE	31092844		★☆☆☆☆ Found in Text Mining only
Carcinoma Ovarian Epithelial	Epithelial ovarian carcinoma	Pubtator	26840454	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	26464664	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Squamous Cell	Squamous cell carcinoma	Pubtator	20839314	Associate	★☆☆☆☆ Found in Text Mining only
Cataract	Cataract	HPO_DG			★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	25123959		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	34911835	Associate	★☆☆☆☆ Found in Text Mining only
Corneal dystrophy	Corneal Dystrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Diabetic Nephropathies	Diabetic neuropathy	Pubtator	36444934	Associate	★☆☆☆☆ Found in Text Mining only
Dystrophia unguium	Nail dystrophy	BEFREE	24218583		★☆☆☆☆ Found in Text Mining only
Dystrophia unguium	Nail dystrophy	HPO_DG			★☆☆☆☆ 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
Keratoderma, Palmoplantar	Palmoplantar keratoderma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Laryngomalacia	Laryngomalacia	HPO_DG			★☆☆☆☆ 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	37079368	Associate	★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of mouth	Malignant neoplasm of mouth	CTD_human_DG	15274141		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of urinary bladder	Urinary bladder cancer	BEFREE	31092844		★☆☆☆☆ Found in Text Mining only
Melanoma	Melanoma	Pubtator	36553569	Associate	★☆☆☆☆ Found in Text Mining only
Mouth Neoplasms	Mouth Neoplasms	CTD_human_DG	15274141		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nasal Polyps	Nasal polyp	Pubtator	23709377	Associate	★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	31092844		★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	22918472		★☆☆☆☆ Found in Text Mining only
Onychogryposis	Onychogryposis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Pachyonychia Congenita	Pachyonychia congenita	Pubtator	10571744, 11348474, 11886499, 17511954, 19609311, 21160496, 21326300, 21390048, 24611874, 25656049, 28648685, 34116063, 34724947, 36116508, 36658016	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Pachyonychia congenita	Pachyonychia Congenita	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Pachyonychia Congenita	Pachyonychia Congenita	BEFREE	24218583, 29357356, 31777952, 31823354		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Pachyonychia Congenita	Pachyonychia Congenita	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PACHYONYCHIA CONGENITA 4	Pachyonychia Congenita	GENOMICS_ENGLAND_DG	16250204, 9618173		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
PACHYONYCHIA CONGENITA 4	Pachyonychia Congenita	UNIPROT_DG	16250206, 21326300, 9618173		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
PACHYONYCHIA CONGENITA 4	Pachyonychia Congenita	CLINVAR_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Pachyonychia Congenita, Jadassohn Lewandowsky Type	Pachyonychia Congenita	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Pachyonychia Congenita, Type 2 (disorder)	Pachyonychia Congenita	BEFREE	16620218		★☆☆☆☆ Found in Text Mining only
Pachyonychia Congenita, Type 2 (disorder)	Pachyonychia Congenita	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Pheochromocytoma	Pheochromocytoma	BEFREE	22217803		★☆☆☆☆ Found in Text Mining only
Polycystic Kidney, Autosomal Dominant	Polycystic kidney disease	BEFREE	21392577		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	CTD_human_DG	15274141		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	BEFREE	29069744		★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	32468250, 40650045	Associate	★☆☆☆☆ Found in Text Mining only
Steatocystoma multiplex	Steatocystomas	HPO_DG			★☆☆☆☆ Found in Text Mining only
Urinary Bladder Neoplasms	Urinary bladder neoplasms	Pubtator	31233191, 35794606	Associate	★☆☆☆☆ Found in Text Mining only