KRT16 (keratin 16)

Gene
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
3868
Gene name Gene Name - the full gene name approved by the HGNC.
Keratin 16
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
KRT16
Synonyms (NCBI Gene) Gene synonyms aliases
CK16, FNEPPK, K16, K1CP, KRT16A, NEPPK, PC1
Chromosome Chromosome number
17
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
17q21.2
Summary Summary of gene provided in NCBI Entrez Gene.
The protein encoded by this gene is a member of the keratin gene family. The keratins are intermediate filament proteins responsible for the structural integrity of epithelial cells and are subdivided into cytokeratins and hair keratins. Most of the type
SNPs SNP information provided by dbSNP.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(13)
SNP ID Visualize variation Clinical significance Consequence
rs28928894 A>C,G,T Pathogenic, not-provided Missense variant, coding sequence variant
rs28928895 A>G,T Pathogenic, not-provided Missense variant, coding sequence variant
rs57424749 C>G,T Pathogenic, not-provided Missense variant, coding sequence variant
rs58181827 AGG>- Pathogenic Inframe deletion, coding sequence variant
rs58293603 A>C,G,T Pathogenic, not-provided Missense variant, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(8)
miRTarBase ID miRNA Experiments Reference
MIRT1101150 hsa-miR-1292 CLIP-seq
MIRT1101151 hsa-miR-1909 CLIP-seq
MIRT1101152 hsa-miR-2278 CLIP-seq
MIRT1101153 hsa-miR-3175 CLIP-seq
MIRT1101154 hsa-miR-4471 CLIP-seq
Transcription factors
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(4)
Transcription factor Regulation Reference
EP300 Activation 12954631;16214953
JUN Activation 12954631;16214953
NFE2L2 Activation 18629308
SP1 Activation 12954631
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(36)
GO ID Ontology Definition Evidence Reference
GO:0001533 Component Cornified envelope IEA
GO:0002009 Process Morphogenesis of an epithelium IBA
GO:0002009 Process Morphogenesis of an epithelium IEA
GO:0002009 Process Morphogenesis of an epithelium ISS
GO:0005198 Function Structural molecule activity IEA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
148067 6423 ENSG00000186832
Protein
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID P08779
Protein name Keratin, type I cytoskeletal 16 (Cytokeratin-16) (CK-16) (Keratin-16) (K16)
Protein function Epidermis-specific type I keratin that plays a key role in skin. Acts as a regulator of innate immunity in response to skin barrier breach: required for some inflammatory checkpoint for the skin barrier maintenance. {ECO:0000250|UniProtKB:Q9Z2K1
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00038 Filament 116 → 427 Intermediate filament protein Coiled-coil
Tissue specificity TISSUE SPECIFICITY: Expressed in the corneal epithelium (at protein level). {ECO:0000269|PubMed:26758872}.
Sequence
Sequence length 473
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
  KEGG   Reactome
  Estrogen signaling pathway
Staphylococcus aureus infection 		  Keratinization
Formation of the cornified envelope
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (2)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Pachyonychia Congenita Pachyonychia congenita 1 rs59856285, rs587777717, rs59349773, rs60723330, rs58181827, rs57424749, rs58293603, rs28928894, rs28928895, rs60944949, rs58608173 N/A
Nonepidermolytic palmoplantar keratoderma palmoplantar keratoderma, nonepidermolytic, focal 1 rs60723330, rs1555573633, rs59856285 N/A
Show/Hide Unknown Diseases (1)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Isolated Focal Non-Epidermolytic Palmoplantar Keratoderma isolated focal non-epidermolytic palmoplantar keratoderma N/A N/A GenCC
Show/Hide Text Mining Associations (52)
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Acanthosis Nigricans Associate 29784039
Anal Gland Neoplasms Associate 10195031
Arthritis Psoriatic Associate 16741508, 29784039, 9138475
Breast Neoplasms Associate 30358191, 35022570
Carcinogenesis Associate 29377892
Carcinoma Adenoid Cystic Associate 26953815
Carcinoma Basal Cell Associate 1383350, 31047981
Carcinoma in Situ Stimulate 22301701
Carcinoma Non Small Cell Lung Associate 30914778
Carcinoma Pancreatic Ductal Associate 28418924