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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 nameGene Name - the full gene name approved by the HGNC.
Keratin 16
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
KRT16
SynonymsGene synonyms aliases
CK16, FNEPPK, K16, K1CP, KRT16A, NEPPK, PC1
ChromosomeChromosome number
17
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
17q21.2
SummarySummary 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
SNPsSNP information provided by dbSNP.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
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
miRNAmiRNA information provided by mirtarbase database.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
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
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
GO ID Ontology Definition Evidence Reference
GO:0002009 Process Morphogenesis of an epithelium ISS
GO:0005200 Function Structural constituent of cytoskeleton NAS 2451124
GO:0005515 Function Protein binding IPI 15731013, 32296183
GO:0005634 Component Nucleus HDA 21630459
GO:0005829 Component Cytosol TAS
Other IDsOther 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
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
Sequence
Sequence length 473
Interactions View interactions
PathwaysPathway information has different metabolic/signaling pathways associated with genes. Each record is hyperlinked to a complete information page which also includes links to the KEGG/Reactome pathway database.
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
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Causal
Disease name Disease term dbSNP ID References
Anonychia ANONYCHIA rs74315420, rs74315421, rs74315422, rs74315423, rs387907026, rs387907027, rs387907028, rs780261665, rs775644973, rs370554150
Cataract Cataract rs118203965, rs118203966, rs104893685, rs121908938, rs104894175, rs121909048, rs28937573, rs121909049, rs121909050, rs74315488, rs80358200, rs80358203, rs121434643, rs56141211, rs132630322, rs121917775, rs121917735, rs121917736, rs137853199, rs137853200, rs121917867, rs121917869, rs121913555, rs104893736, rs121909595, rs121909596, rs121909597, rs28931605, rs121909598, rs104893618, rs1695062782, rs74315486, rs74315487, rs74315490, rs74315489, rs745938679, rs1566402656, rs74315439, rs74315441, rs121912973, rs121917823, rs1593332981, rs121917825, rs121917827, rs113994108, rs387906963, rs387906964, rs1240503246, rs387906965, rs387906966, rs750207077, rs387907336, rs387907337, rs387907342, rs140332366, rs397514703, rs398122937, rs398122378, rs398122392, rs398122944, rs137853924, rs398122947, rs397515623, rs397515624, rs397515625, rs397515626, rs398122948, rs587778872, rs398123066, rs587777601, rs370424081, rs786205221, rs786205222, rs864309684, rs864309688, rs864309701, rs864309689, rs864309690, rs864309681, rs864309686, rs864309696, rs864309693, rs864309687, rs864309691, rs864309692, rs864309695, rs864309678, rs864309685, rs864309700, rs864309698, rs864309683, rs864309682, rs864309679, rs111534978, rs864309680, rs864309702, rs864622780, rs756898971, rs869312732, rs775038545, rs878852983, rs1114167312, rs1114167313, rs1114167314, rs1114167315, rs1114167307, rs886041410, rs886041412, rs1057518738, rs1057517926, rs1057518878, rs1057519616, rs12799308, rs1064793935, rs1064797219, rs1085307126, rs1085307127, rs765628635, rs1114167427, rs1114167433, rs1554744860, rs1554743428, rs747093432, rs1411557416, rs1555179713, rs1481963503, rs1555549755, rs1456161420, rs1555547008, rs1555889308, rs1555888762, rs766522434, rs1264025914, rs1553585262, rs1567671947, rs1337897299, rs764945940, rs1307969607, rs949335475, rs1184095219, rs776129797, rs1569203234, rs1567668570, rs749141857, rs764098604, rs1184398243, rs1578956689, rs1568480054, rs1564745688, rs1564722302, rs1564723150, rs1571175950, rs1569602837, rs1576552712, rs1575369255, rs981126461, rs1570403798, rs200557771, rs1477743112, rs1651879427, rs1651881222, rs1651919374, rs2024441691, rs148284531, rs1246080692
Corneal dystrophy Corneal dystrophy rs121909212, rs121909214, rs760714959, rs766305306, rs1554579819, rs1554579832, rs1554579878
Ichthyosis Ichthyoses rs199766569, rs587776996, rs587777262, rs863223405, rs370031870, rs1569044747, rs200806519
Unknown
Disease name Disease term dbSNP ID References
Alopecia Alopecia
Urinary bladder cancer Malignant neoplasm of urinary bladder 20186695
Bladder neoplasm Bladder Neoplasm 20186695
Eczema Eczema

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