Gene Gene information from NCBI Gene database.
Entrez ID 3852
Gene name Keratin 5
Gene symbol KRT5
Synonyms (NCBI Gene)
CK5DDDDDD1EBS1EBS2EBS2AEBS2BEBS2CEBS2DEBS2EEBS2FK5KRT5A
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 information provided by dbSNP.
37
SNP ID Visualize variation Clinical significance Consequence
rs57348201 T>A,G Not-provided, pathogenic Missense variant, stop gained, coding sequence variant
rs57499817 G>A Not-provided, pathogenic Missense variant, coding sequence variant
rs57599352 A>G Pathogenic Missense variant, coding sequence variant
rs57890479 G>A Not-provided, pathogenic Missense variant, coding sequence variant
rs58058996 A>C,T Likely-pathogenic, pathogenic Missense variant, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
71
miRTarBase ID miRNA Experiments Reference
MIRT000221 hsa-miR-196a-5p Review 20026422
MIRT003353 hsa-miR-196b-5p Review 20026422
MIRT000221 hsa-miR-196a-5p Luciferase reporter assayqRT-PCR 19342367
MIRT017843 hsa-miR-335-5p Microarray 18185580
MIRT732780 hsa-let-7a-5p Luciferase reporter assayWestern blotting 32965722
Transcription factors Transcription factors information provided by TRRUST V2 database.
3
Transcription factor Regulation Reference
BRCA1 Unknown 16241993;19882246
SP1 Activation 12024040
TFAP2A Activation 12024040
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
25
GO ID Ontology Definition Evidence Reference
GO:0005200 Function Structural constituent of cytoskeleton TAS 7520042
GO:0005515 Function Protein binding IPI 10727209, 10852826, 15671067, 15731013, 22705788, 24940650, 25416956, 31995743, 32296183, 37671092
GO:0005634 Component Nucleus HDA 21630459
GO:0005737 Component Cytoplasm IDA 20128788, 22170488
GO:0005737 Component Cytoplasm IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
148040 6442 ENSG00000186081
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P13647
Protein name Keratin, type II cytoskeletal 5 (58 kDa cytokeratin) (Cytokeratin-5) (CK-5) (Keratin-5) (K5) (Type-II keratin Kb5)
Protein function Required for the formation of keratin intermediate filaments in the basal epidermis and maintenance of the skin barrier in response to mechanical stress (By similarity). Regulates the recruitment of Langerhans cells to the epidermis, potentially
PDB 3TNU , 6JFV
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF16208 Keratin_2_head 16 164 Keratin type II head Family
PF00038 Filament 167 480 Intermediate filament protein Coiled-coil
Tissue specificity TISSUE SPECIFICITY: Expressed in corneal epithelium (at protein level) (PubMed:26758872). Expressed in keratinocytes (at protein level) (PubMed:20128788, PubMed:31302245). {ECO:0000269|PubMed:20128788, ECO:0000269|PubMed:26758872, ECO:0000269|PubMed:31302
Sequence
Sequence length 590
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  Reactome
    Type I hemidesmosome assembly
Keratinization
Formation of the cornified envelope
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
205
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Dowling-Degos disease 1 Likely pathogenic; Pathogenic rs2498407244, rs58751565, rs61348424, rs61297109 RCV003225775
RCV000015753
RCV000015762
RCV003333731
Epidermolysis bullosa Pathogenic; Likely pathogenic rs58766676, rs56729325 RCV001823714
RCV005234961
Epidermolysis bullosa simplex Likely pathogenic; Pathogenic rs1938615785, rs1938635857, rs1938645889, rs1938666838, rs1938667202, rs376462752, rs57599352, rs60586163, rs57499817, rs121912475, rs61126080, rs59115483, rs59190510, rs1565593355, rs267607458
View all (6 more)
RCV001352784
RCV001352779
RCV001352778
RCV001352777
RCV001352775
RCV001352724
RCV001352783
RCV001352776
RCV001352721
RCV001352726
RCV001352788
RCV001352723
RCV001352787
RCV000761247
RCV001352781
RCV001352782
RCV001352785
RCV001352722
RCV001352725
RCV001352774
RCV005250007
RCV001352780
Epidermolysis bullosa simplex 1A, generalized severe Likely pathogenic; Pathogenic rs1938679596, rs60715293, rs59190510, rs56922686, rs60586163 RCV001808117
RCV000015756
RCV000020296
RCV002247452
RCV002247453
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Cholangiocarcinoma Benign rs61747188 RCV005893109
Clear cell carcinoma of kidney Benign rs74093478 RCV005891257
Epidermolysis bullosa simplex 2C, localized, modifier of risk factor rs121912476 RCV001731301
Uterine corpus endometrial carcinoma Benign rs61747188 RCV005893110
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
AA amyloidosis Associate 23234252, 32861330
Achalasia Addisonianism Alacrimia syndrome Associate 22431556
Adenocarcinoma Associate 20068475, 22623086, 31880186, 35093316
Adenocarcinoma Mucinous Associate 21699710
Adenocarcinoma of Lung Associate 25337222, 31854219, 32360590
Adenolymphoma Associate 22990554
Adenoma Associate 22623086
Adenomatoid Tumor Associate 19543245
Aicardi Syndrome Associate 21577319
Airway Obstruction Associate 19529775