KRT16 (keratin 16)

Gene Gene information from NCBI Gene database.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID 3868
Gene name Keratin 16
Gene symbol KRT16
Synonyms (NCBI Gene)
CK16FNEPPKK16K1CPKRT16ANEPPKPC1
Chromosome 17
Chromosome location 17q21.2
Summary 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.
13
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.
8
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 Transcription factors information provided by TRRUST V2 database.
4
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 (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
36
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 identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
148067 6423 ENSG00000186832
Protein Protein information from UniProt database.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
12
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways 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)
Show/Hide Causal Diseases (3)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
KRT16-related disorder Pathogenic rs59856285 RCV003415709
★★★★★
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Pachyonychia congenita 1 Pathogenic; Likely pathogenic rs587777717, rs59349773, rs59856285, rs60944949, rs60723330, rs58181827, rs57424749, rs58293603, rs28928894, rs28928895, rs58608173 RCV000144082
RCV000198279
RCV002494798
RCV000015704
RCV000578284
View all (9 more)
★★★★★
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Palmoplantar keratoderma, nonepidermolytic, focal 1 Pathogenic; Likely pathogenic rs59856285, rs2508756879, rs60723330, rs28928894, rs1555573633, rs58293603 RCV002494798
RCV003448795
RCV000015705
RCV000015706
RCV002496376
View all (2 more)
★★★★★
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Show/Hide Unknown Diseases (9)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
EBV-positive nodal T- and NK-cell lymphoma Likely benign ClinVar
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ECTODERMAL DYSPLASIA — Disgenet
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
EPIDERMOLYTIC PALMOPLANTAR KERATODERMA — Orphanet
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Malignant tumor of urinary bladder Conflicting classifications of pathogenicity ClinVar
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Show/Hide Text Mining Associations (114)
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Actinic keratosis Actinic keratosis BEFREE 23379751
★★★★★
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma Adenocarcinoma BEFREE 30914778
★★★★★
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of lung (disorder) Lung adenocarcinoma BEFREE 31337972
★★★★★
★☆☆☆☆
Found in Text Mining only
Alopecia Alopecia HPO_DG
★★★★★
★☆☆☆☆
Found in Text Mining only
ANONYCHIA Anonychia HPO_DG
★★★★★
★☆☆☆☆
Found in Text Mining only
ANOPHTHALMIA AND PULMONARY HYPOPLASIA Syndromic microphthalmia BEFREE 28418924
★★★★★
★☆☆☆☆
Found in Text Mining only
Arthritis Psoriatic Psoriatic arthritis Pubtator 16741508, 29784039, 9138475 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Bladder Neoplasm Bladder Neoplasm CTD_human_DG 20186695
★★★★★
★☆☆☆☆
Found in Text Mining only
Breast Neoplasms Breast neoplasm Pubtator 30358191, 35022570 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Carcinogenesis Carcinogenesis Pubtator 29377892 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only