KRT6B - keratin 6B Gene

Homo sapiens

Also known as K6B; PC2; PC4; CK6B; CK-6B; KRTL1

Gene ID: 3854 | Gene type: protein coding

About KRT6B

Cytogenetic location: 12q13.13 Genomic coordinates (GRCh38): 12:52,446,651-52,452,146 (from NCBI)

This gene has 1 transcript (splice variant), 143 orthologues, 68 paralogues and is associated with 3 phenotypes. Restricted expression toward esophagus (RPKM 785.7).

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 epithelial tissues. As many as six of this type II cytokeratin (KRT6) have been identified; the multiplicity of the genes is attributed to successive gene duplication events. The genes are expressed with family members KRT16 and/or KRT17 in the filiform papillae of the tongue, the stratified epithelial lining of oral mucosa and esophagus, the outer root sheath of hair follicles, and the glandular epithelia. Mutations in these genes have been associated with pachyonychia congenita. The type II cytokeratins are clustered in a region of chromosome 12q12-q13. [provided by RefSeq, Jul 2008]

KRT6B Products(1)

mRNA	Protein	Name
NM_005555.4	NP_005546.2	keratin, type II cytoskeletal 6B

Gene Ontology

Molecular Function

Molecular Function GO Annotation	Evidence	Reference	Source
enables protein binding	IPI IPI: Inferred from physical interaction	16189514	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

KRT6B Protein Structure

Filament

0
100
200
300
400
500
564 a.a.

Protein Preferred Names

Protein Names

keratin, type II cytoskeletal 6B

cytokeratin 6B

Related Diseases

Diseases

Alias

Pachyonychia Congenita 4

PC4	Pachyonychia Congenita, Type 4

Pachyonychia Congenita 1

Pachyonychia Congenita	Jadassohn-Lewandowsky Syndrome
Pachyonychia Congenita Syndrome	PC1
Pachyonychia Congenita, Jadassohn-Lewandowsky Type	Congenital Pachyonychia
Pachyonychia Congenita, Type 1	Pachyonychia Congenita, Jadassohn-Lewandowsky Type, Formerly
Jadassohn-Lewandowsky Syndrome, Formerly	Jackson-Lawler Type Pachyonychia Congenita
Pachyonychia Congenita Type 1	Jackson-Lawler Syndrome
Jadassohn-Lewandowski Syndrome	Pc
Pachyonychia Congenita Jackson-Lawler Type	Pachyonychia Congenita Jadassohn-Lewandowsky Type
Pachyonychia Congenita Jackson Lawler Type	Pc-1
Pachyonychia Congenita, Jadassohn Lewandowsky Type	Pachyonychia Congenita, Type 2

Pachyonychia Congenita 2

Pachyonychia Congenita, Type 2	PC2
Pachyonychia Congenita, Jackson-Lawler Type, Formerly	Pachyonychia Congenita Jackson-Lawler Type

Median Rhomboid Glossitis

Persistent Tuberculum Impar	Glossitis Rhomboidea Mediana
Superficial Midline Glossitis

Glossitis

Inflammation Of Tongue	Tongue Inflammation
Glazed Tongue

Epidermolytic Hyperkeratosis

Bullous Congenital Ichthyosiform Erythroderma	Bullous Ichthyosiform Erythroderma
EHK	Bullous Erythroderma Ichthyosiformis Congenita Of Brocq
Bcie	Bie
Epidermolytic Ichthyosis	Ichthyosis Bullosa Of Siemens
Superficial Epidermolytic Ichthyosis	Hyperkeratosis, Epidermolytic
Congenital Bullous Ichthyosiform Erythroderma	Bullous Type Ichthyosis
Epidermolytic Palmoplantar Hyperkeratosis	Bullous Ichthyosiform Erythroderma Congenita
Bullous Erythroderma Ichthyosiforme	Sei
Epidermolytic Hyperkeratosis Late-Onset	Epidermolytic Hyperkeratosis, Late-Onset

Palmoplantar Keratoderma, Nonepidermolytic, Focal Or Diffuse

PPKNEFD	Focal Or Diffuse Nonepidermolytic Palmoplantar Keratoderma
Autosomal Dominant Focal Non-Epidermolytic Palmoplantar Keratoderma With Plantar Blistering	Palmoplantar Keratoderma, Non-Epidermolytic, Focal Or Diffuse
Nonepidermolytic Focal Or Diffuse Palmoplantar Keratoderma	Keratoderma, Palmoplantar, Nonepidermolytic, Focal Or Diffuse

Cataract 38

CTRCT38	Catc5
Autosomal Recessive Congenital Cataract 5	Cataract, Autosomal Recessive Congenital 5
Cataract 38, Autosomal Recessive	Cataract, Type 38

Palmoplantar Keratoderma, Nonepidermolytic, Focal 1

Focal Nonepidermolytic Palmoplantar Keratoderma	Isolated Focal Non-Epidermolytic Palmoplantar Keratoderma
FNEPPK1	Ppkfne
Keratoderma, Focal Nonepidermolytic Palmoplantar	Palmoplantar Keratoderma, Nonepidermolytic, Focal
Hyperkeratosis Of The Palms And Soles And Esophageal Papillomas	Fneppk
Focal Nonepidermolytic Palmoplantar Keratoderma 1	Keratoderma, Palmoplantar, Non-Epidermolytic, Focal 1
Keratoderma, Palmoplantar, Nonepidermolytic, Focal, Type 1

Steatocystoma Multiplex

Sebocystomatosis	Multiple Sebaceous Cysts
Multiplex Steatocystoma	Sebaceous Cysts, Multiple
SM

Focal Palmoplantar Keratoderma

Focal Ppk	Focal Keratosis Palmoplantaris
Focal Palmoplantar Hyperkeratosis

Occupational Dermatitis

Dermatitis, Occupational	Occupational Allergic Contact Dermatitis
Occupational Eczema

Palmoplantar Keratoderma, Epidermolytic

Epidermolytic Palmoplantar Keratoderma	EPPK
Keratosis Palmaris Et Plantaris Familiaris	Tylosis
Keratosis Of Greither	Diffuse Nonepidermolytic Palmoplantar Keratoderma
Keratoderma, Palmoplantar, Epidermolytic	Unna-Thost Palmoplantar Keratoderma
Epidermolytic Palmoplantar Keratoderma Of Voerner	Ppke
Keratoderma, Epidermolytic Palmoplantar	Palmoplantar Keratoderma, Vorner Type
Hyperkeratosis, Localized Epidermolytic	Diffuse Erythrodermic Palmoplantar Keratoderma, Vörner Type
Epidermolytic Palmoplantar Keratoderma Of Vörner	Hyperkeratosis Palmoplantar Localized Epidermolytic
Diffuse Neppk	Ppk Diffusa Circumscripta
Thost-Unna Disease	Thost-Unna Palmoplantar Keratoderma
Diffuse Erythrodermic Palmoplantar Keratoderma, Voerner Type	Diffuse Erythrodermic Palmoplantar Keratoderma, Vorner Type
Epidermolytic Palmoplantar Keratoderma Of Vorner	Ehppk
Epidermolytic Unna-Thost Disease	Localized Epidermolytic Hyperkeratosis
Palmoplantar Keratoderma Vorner Type	Unilateral Palmoplantar Verrucous Nevus
UPVN	Keratoderma, Palmoplantar, Diffuse
Hyperkeratosis	Palmoplantar Keratoderma, Nonepidermolytic
Epidermolytic Palmoplantar Keratoderma Vorner Type	Type B Tylosis
Hyperkeratosis Of The Palms And Soles And Esophageal Papillomas	Type A Tylosis

Naegeli-Franceschetti-Jadassohn Syndrome

Naegeli Syndrome	Nfj Syndrome
NFJS	Reticular Skin Changes, Dental Anomalies, Decreased Function Of Sweat Glands, Strabismus, And Optic Atrophy
Naegeli-Franceschetti-Jadassohn Syndrome/Dermatopathia Pigmentosa Reticularis	Dpr
Franceschetti-Jadassohn Syndrome	Nfjs/Dpr

White Sponge Nevus 1

White Sponge Nevus Of Cannon	Leukokeratosis, Hereditary Mucosal
Hereditary Mucosal Leukokeratosis	White Sponge Nevus
WSN1	Wsn
Cannon'S Disease	Familial White Folded Mucosal Dysplasia
Hereditary Leukokeratosis	Hereditary Oral Keratosis
Leukokeratosis Of Oral Mucosa	Nevus Of Cannon
White Folded Gingivostomatosis	White Gingivostomatitis
White Sponge Naevus	White Sponge Nevus Of Mucosa

Monilethrix

Beaded Hair	MNLIX
Nodose Hair	Moniliform Hair Syndrome

Palmoplantar Keratosis

Palmoplantar Keratoderma	Keratosis Palmaris Et Plantaris
Palmo-Plantar Keratodermas	Keratoderma, Palmoplantar
Keratoderma Palmoplantar	Keratoderma, Palmoplantar, Diffuse
Hyperkeratosis Of Palms And Soles	Palmoplantar Hyperkeratosis

Angular Cheilitis

Cheilosis	Angular Cheilosis
Angular Stomatitis	Commissural Cheilitis

Epidermolysis Bullosa Simplex 1a, Generalized Severe

Epidermolysis Bullosa Simplex, Dowling-Meara Type	Epidermolysis Bullosa Herpetiformis, Dowling-Meara Type
EBS1A	Ebsdm
Epidermolysis Bullosa Simplex Dowling-Meara Type	Epidermolysis Bullosa Simplex, Herpetiformis
Ebs-Dm	Epidermolysis Bullosa Simplex 1a, Dowling-Meara Type
Ebs-Gen Sev	Epidermolysis Bullosa Herpetiformis Dowling-Meara Type
Generalized Severe Epidermolysis Bullosa Simplex	Dowling-Meara Type Epidermolysis Bullosa Simplex
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form	Autosomal Dominant Generalized Ebs, Severe Form
Epidermolysis Bullosa Simplex Herpetiformis	Dm-Ebs
Epidermolysis Bullosa Simplex, Generalized Severe	Epidermolysis Bullosa Herpetiformis, Dowling-Meara
Epidermolysis Bullosa Herpetiformis Dowling-Meara

Epidermolysis Bullosa Simplex

Ebs	Epidermolysis Bullosa Intraepidermic
Epidermolytic Epidermolysis Bullosa

Autosomal Recessive Congenital Ichthyosis

Lamellar Ichthyosis	Congenital Ichthyosiform Erythroderma
Li	Congenital Nonbullous Ichthyosiform Erythroderma
Arci	Congenital Lamellar Ichthyosis
Nonbullous Congenital Ichthyosiform Erythroderma	Cie
Congenital Non-Bullous Ichthyosiform Erythroderma	Erythrodermic Ichthyosis
Nbcie	Ncie
Non-Bullous Congenital Ichthyosiform Erythroderma	Collodion Baby
Ichthyosis, Lamellar	Non Bullous Congenital Ichthyosiform Erythroderma
Ichthyosiform Erythroderma, Brocq Congenital, Nonbullous Form	Ichthyosiform Erythroderma, Congenital, Nonbullous, 1
Collodion Baby Syndrome	Ichthyoses, Lamellar
Nbie	Nonbullous Ichthyosiform Erythroderma
Classic Lamellar Ichthyosis	Ichthyosiform Erythroderma Nonbullous Congenital
Ichthyosiform Erythroderma Congenital	Ichthyosis, Congenital, Autosomal Recessive
Ichthyosiform Erythroderma, Congenital	Collodion Fetus
Non-Bullous Ichthyosiform Erythroderma

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS07459	KRT6B Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

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