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Aliases for KRT6B Gene

Aliases for KRT6B Gene

  • Keratin 6B 2 3 5
  • Keratin-Like 1 (A Type II Keratin Sequence) 2 3
  • Type-II Keratin Kb10 3 4
  • Keratin 6B, Type II 2 3
  • KRTL1 3 4
  • CK-6B 3 4
  • K6B 3 4
  • Keratin, Epidermal, Type II, K6B 3
  • Keratin, Type II Cytoskeletal 6B 3
  • Cytokeratin 6B 3
  • Cytokeratin-6B 4
  • Keratin-6B 4
  • CK6B 3
  • PC2 3
  • PC4 3

External Ids for KRT6B Gene

Previous HGNC Symbols for KRT6B Gene

  • KRTL1

Previous GeneCards Identifiers for KRT6B Gene

  • GC12U990045
  • GC12M052870
  • GC12M052558
  • GC12M051126
  • GC12M052840
  • GC12M049884

Summaries for KRT6B Gene

Entrez Gene Summary for KRT6B Gene

  • 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]

GeneCards Summary for KRT6B Gene

KRT6B (Keratin 6B) is a Protein Coding gene. Diseases associated with KRT6B include Pachyonychia Congenita 4 and Pachyonychia Congenita 1. Among its related pathways are Keratinization and Cytoskeletal Signaling. GO annotations related to this gene include structural molecule activity and structural constituent of cytoskeleton. An important paralog of this gene is KRT6C.

No data available for CIViC summary , UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for KRT6B Gene

Genomics for KRT6B Gene

Regulatory Elements for KRT6B Gene

Enhancers for KRT6B Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH12G052515 1.6 FANTOM5 ENCODE dbSUPER 4.2 -68.9 -68919 11.4 PKNOX1 ZNF133 ARID4B ZNF48 ZNF121 GLIS2 GATA2 FOS DEK ZNF263 KRT5 KRT6A KRT6C KRT71 KRT74 KRT84 KRT2 KRT4 KRT82 KRT83
GH12G052491 1.8 FANTOM5 Ensembl ENCODE dbSUPER 3.3 -42.4 -42431 6.4 RB1 KLF17 SIN3A ZNF48 RAD21 ZNF335 ZNF121 SCRT2 ZNF143 ZNF391 KRT6C KRT5 KRT6A KRT71 KRT82 KRT84 KRT87P KRT86 KRT2 KRT78
GH12G052143 2 FANTOM5 Ensembl ENCODE dbSUPER 1.2 +301.5 301523 14.9 HDGF PKNOX1 SIN3A YBX1 ZBTB7B ZNF207 ZNF143 FOS DEK ZNF263 TFCP2 KRT5 ENSG00000257989 KRT7 KRT6A OR7E47P IGFBP6 KRT6C KRT80 ATG101
GH12G052439 1.4 Ensembl ENCODE dbSUPER 0.4 +10.4 10404 3.6 PKNOX1 RAD21 TCF12 GATA2 EGR1 ZNF366 FOS CREM EGR2 ZNF654 KRT6C KRT84 KRT2 KRT4 KRT75 KRT6B
GH12G052451 0.7 ENCODE dbSUPER 0.7 -0.8 -761 2.0 CTBP1 ZKSCAN1 KRT6C PFDN5 KRT6B GC12M052334
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around KRT6B on UCSC Golden Path with GeneCards custom track

Genomic Location for KRT6B Gene

Chromosome:
12
Start:
52,446,651 bp from pter
End:
52,452,126 bp from pter
Size:
5,476 bases
Orientation:
Minus strand

Genomic View for KRT6B Gene

Genes around KRT6B on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
KRT6B Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for KRT6B Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for KRT6B Gene

Proteins for KRT6B Gene

  • Protein details for KRT6B Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P04259-K2C6B_HUMAN
    Recommended name:
    Keratin, type II cytoskeletal 6B
    Protein Accession:
    P04259
    Secondary Accessions:
    • P48669

    Protein attributes for KRT6B Gene

    Size:
    564 amino acids
    Molecular mass:
    60067 Da
    Quaternary structure:
    • Heterodimer of a type I and a type II keratin. KRT6 isomers associate with KRT16 and/or KRT17.
    Miscellaneous:
    • There are at least six isoforms of human type II keratin-6 (K6).
    • There are two types of cytoskeletal and microfibrillar keratin, I (acidic) and II (neutral to basic) (40-55 and 56-70 kDa, respectively).

neXtProt entry for KRT6B Gene

Post-translational modifications for KRT6B Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for KRT6B Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for KRT6B Gene

Domains & Families for KRT6B Gene

Gene Families for KRT6B Gene

Suggested Antigen Peptide Sequences for KRT6B Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

P04259

UniProtKB/Swiss-Prot:

K2C6B_HUMAN :
  • Belongs to the intermediate filament family.
Family:
  • Belongs to the intermediate filament family.
genes like me logo Genes that share domains with KRT6B: view

Function for KRT6B Gene

Molecular function for KRT6B Gene

GENATLAS Biochemistry:
keratin 6B,type II,upper outer hair root sheat,nail bed,palm and sole skin,suprabasal orogenital mucosal keratinocytes,dimerizing with KRT17

Gene Ontology (GO) - Molecular Function for KRT6B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005200 structural constituent of cytoskeleton TAS 9618173
GO:0005515 protein binding IPI 16189514
genes like me logo Genes that share ontologies with KRT6B: view
genes like me logo Genes that share phenotypes with KRT6B: view

Human Phenotype Ontology for KRT6B Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for KRT6B Gene

MGI Knock Outs for KRT6B:

Animal Model Products

miRNA for KRT6B Gene

miRTarBase miRNAs that target KRT6B

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for KRT6B Gene

Localization for KRT6B Gene

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for KRT6B gene
Compartment Confidence
extracellular 5
cytosol 5
cytoskeleton 3
nucleus 2
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for KRT6B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005829 cytosol TAS --
GO:0005882 intermediate filament IEA --
GO:0045095 keratin filament IEA --
GO:0070062 extracellular exosome IDA 19199708
genes like me logo Genes that share ontologies with KRT6B: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for KRT6B Gene

Pathways & Interactions for KRT6B Gene

genes like me logo Genes that share pathways with KRT6B: view

Pathways by source for KRT6B Gene

1 Cell Signaling Technology pathway for KRT6B Gene
2 Reactome pathways for KRT6B Gene

Gene Ontology (GO) - Biological Process for KRT6B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007010 cytoskeleton organization IEA --
GO:0007398 ectoderm development TAS 9618173
GO:0031424 keratinization TAS --
GO:0070268 cornification TAS --
genes like me logo Genes that share ontologies with KRT6B: view

No data available for SIGNOR curated interactions for KRT6B Gene

Drugs & Compounds for KRT6B Gene

(1) Drugs for KRT6B Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
genes like me logo Genes that share compounds with KRT6B: view

Transcripts for KRT6B Gene

mRNA/cDNA for KRT6B Gene

(1) REFSEQ mRNAs :
(3) Additional mRNA sequences :
(404) Selected AceView cDNA sequences:
(1) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for KRT6B Gene

Keratin 6B:
Representative Sequences:

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for KRT6B Gene

No ASD Table

Relevant External Links for KRT6B Gene

GeneLoc Exon Structure for
KRT6B
ECgene alternative splicing isoforms for
KRT6B

Expression for KRT6B Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for KRT6B Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for KRT6B Gene

This gene is overexpressed in Esophagus - Mucosa (x23.2), Skin - Not Sun Exposed (Suprapubic) (x9.2), Cervix - Ectocervix (x6.0), Minor Salivary Gland (x5.3), Skin - Sun Exposed (Lower leg) (x4.3), and Vagina (x4.1).

Protein differential expression in normal tissues from HIPED for KRT6B Gene

This gene is overexpressed in Urinary Bladder (36.1) and Saliva (12.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for KRT6B Gene



NURSA nuclear receptor signaling pathways regulating expression of KRT6B Gene:

KRT6B

SOURCE GeneReport for Unigene cluster for KRT6B Gene:

Hs.708950

mRNA Expression by UniProt/SwissProt for KRT6B Gene:

P04259-K2C6B_HUMAN
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.

Evidence on tissue expression from TISSUES for KRT6B Gene

  • Skin(4.9)
  • Lung(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for KRT6B Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • digestive
  • integumentary
  • nervous
  • respiratory
  • skeletal muscle
  • skeleton
Organs:
Head and neck:
  • brain
  • face
  • forehead
  • head
  • jaw
  • larynx
  • lip
  • mandible
  • maxilla
  • mouth
  • neck
  • scalp
  • skull
  • tongue
  • tooth
  • vocal cord
Limb:
  • digit
  • finger
  • foot
  • hand
  • lower limb
  • nail
  • toe
  • upper limb
General:
  • hair
  • skin
  • sweat gland
genes like me logo Genes that share expression patterns with KRT6B: view

Primer Products

No data available for Protein tissue co-expression partners for KRT6B Gene

Orthologs for KRT6B Gene

This gene was present in the common ancestor of chordates.

Orthologs for KRT6B Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia KRT6C 34
  • 99.23 (n)
-- 35
  • 99 (a)
OneToMany
dog
(Canis familiaris)
Mammalia -- 35
  • 89 (a)
OneToMany
mouse
(Mus musculus)
Mammalia Krt6b 16 35
  • 86 (a)
Krt6a 34 35
  • 85.93 (n)
Gm5414 35
  • 69 (a)
ManyToMany
cow
(Bos Taurus)
Mammalia -- 35
  • 86 (a)
ManyToMany
-- 35
  • 86 (a)
ManyToMany
KRT6B 35
  • 86 (a)
ManyToMany
oppossum
(Monodelphis domestica)
Mammalia -- 35
  • 73 (a)
ManyToMany
chicken
(Gallus gallus)
Aves KRT6A 35
  • 72 (a)
ManyToMany
KRT75 35
  • 66 (a)
ManyToMany
lizard
(Anolis carolinensis)
Reptilia -- 35
  • 68 (a)
OneToMany
Species where no ortholog for KRT6B was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rat (Rattus norvegicus)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)
  • zebrafish (Danio rerio)

Evolution for KRT6B Gene

ENSEMBL:
Gene Tree for KRT6B (if available)
TreeFam:
Gene Tree for KRT6B (if available)

Paralogs for KRT6B Gene

genes like me logo Genes that share paralogs with KRT6B: view

Variants for KRT6B Gene

Sequence variations from dbSNP and Humsavar for KRT6B Gene

SNP ID Clin Chr 12 pos Sequence Context AA Info Type
rs60627726 Pathogenic, Pachyonychia congenita 4 (PC4) [MIM:615728] 52,447,788(-) AGGGC(A/G)AGGAG reference, missense
rs267607472 Pathogenic 52,451,561(-) AACAA(-/CAA)GTTTG cds-indel
rs267607473 Pathogenic 52,447,821(-) ATGTG(A/G)AGATC reference, missense
rs1000376828 -- 52,449,245(+) CACAG(A/G)TGACT intron-variant
rs1000663226 -- 52,448,525(+) TGACC(G/T)GACAT intron-variant

Structural Variations from Database of Genomic Variants (DGV) for KRT6B Gene

Variant ID Type Subtype PubMed ID
dgv1504n100 CNV gain 25217958
dgv2633n54 CNV loss 21841781
esv2751106 CNV loss 17911159
esv3629518 CNV loss 21293372
esv7827 CNV loss 19470904
nsv1035936 CNV gain 25217958
nsv1039931 CNV gain 25217958
nsv832410 CNV gain 17160897
nsv832411 CNV loss 17160897
nsv832412 CNV loss 17160897
nsv983325 CNV duplication 23825009

Variation tolerance for KRT6B Gene

Residual Variation Intolerance Score: 95.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.71; 66.18% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for KRT6B Gene

Human Gene Mutation Database (HGMD)
KRT6B
SNPedia medical, phenotypic, and genealogical associations of SNPs for
KRT6B

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for KRT6B Gene

Disorders for KRT6B Gene

MalaCards: The human disease database

(9) MalaCards diseases for KRT6B Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
pachyonychia congenita 4
  • pc4
pachyonychia congenita 1
  • pachyonychia congenita
krt6b-related pachyonychia congenita
  • pc-k6b
median rhomboid glossitis
  • persistent tuberculum impar
glossitis
- elite association - COSMIC cancer census association via MalaCards
Search KRT6B in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

K2C6B_HUMAN
  • Pachyonychia congenita 4 (PC4) [MIM:615728]: An autosomal dominant genodermatosis characterized by hypertrophic nail dystrophy, painful and highly debilitating plantar keratoderma, oral leukokeratosis, and a variety of epidermal cysts. {ECO:0000269 PubMed:16250206, ECO:0000269 PubMed:21326300, ECO:0000269 PubMed:9618173}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for KRT6B

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
KRT6B
genes like me logo Genes that share disorders with KRT6B: view

No data available for Genatlas for KRT6B Gene

Publications for KRT6B Gene

  1. A mutation in human keratin K6b produces a phenocopy of the K17 disorder pachyonychia congenita type 2. (PMID: 9618173) Smith F.J.D. … McLean W.H.I. (Hum. Mol. Genet. 1998) 3 4 22 64
  2. Cloning and characterization of multiple human genes and cDNAs encoding highly related type II keratin 6 isoforms. (PMID: 7543104) Takahashi K. … Coulombe P.A. (J. Biol. Chem. 1995) 3 4 22 64
  3. Three epidermal and one simple epithelial type II keratin genes map to human chromosome 12. (PMID: 1713141) Rosenberg M. … Shows T.B. (Cytogenet. Cell Genet. 1991) 2 3 22 64
  4. New consensus nomenclature for mammalian keratins. (PMID: 16831889) Schweizer J. … Wright M.W. (J. Cell Biol. 2006) 2 3 64
  5. The genetic basis of pachyonychia congenita. (PMID: 16250206) Smith F.J. … McLean W.H. (J. Investig. Dermatol. Symp. Proc. 2005) 4 22 64

Products for KRT6B Gene

Sources for KRT6B Gene

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