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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 I cytokeratins consist of acidic proteins which are arranged in pairs of heterotypic keratin chains and are clustered in a re... See more...
Aliases for KRT16 Gene
Aliases for KRT16 Gene
External Ids for KRT16 Gene
- HGNC: 6423
- NCBI Entrez Gene: 3868
- Ensembl: ENSG00000186832
- OMIM®: 148067
- UniProtKB/Swiss-Prot: P08779
Previous GeneCards Identifiers for KRT16 Gene
- GC17M020580
- GC17M041881
- GC17M039544
- GC17M040139
- GC17M037019
- GC17M039766
- GC17M035529
Summaries for KRT16 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 I cytokeratins consist of acidic proteins which are arranged in pairs of heterotypic keratin chains and are clustered in a region of chromosome 17q12-q21. This keratin has been coexpressed with keratin 14 in a number of epithelial tissues, including esophagus, tongue, and hair follicles. Mutations in this gene are associated with type 1 pachyonychia congenita, non-epidermolytic palmoplantar keratoderma and unilateral palmoplantar verrucous nevus. [provided by RefSeq, Jul 2008]
GeneCards Summary for KRT16 Gene
KRT16 (Keratin 16) is a Protein Coding gene. Diseases associated with KRT16 include Pachyonychia Congenita 1 and Palmoplantar Keratoderma, Nonepidermolytic, Focal 1. Among its related pathways are Cytoskeleton remodeling Neurofilaments and Developmental Biology. Gene Ontology (GO) annotations related to this gene include structural molecule activity and structural constituent of cytoskeleton. An important paralog of this gene is KRT14.
UniProtKB/Swiss-Prot Summary for KRT16 Gene
-
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.
Additional gene information for KRT16 Gene
- HGNC (6423)
- NCBI Entrez Gene (3868)
- Ensembl (ENSG00000186832)
- OMIM® (148067)
- UniProtKB/Swiss-Prot (P08779)
- Open Targets Platform(ENSG00000186832)
- Monarch Initiative
- Search for KRT16 at DataMed
- Search for KRT16 at HumanCyc
No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for KRT16 Gene
Genomics for KRT16 Gene
GeneHancer (GH) Regulatory Elements Pubs
Promoters and enhancers for KRT16 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data from 2017 publication |
Request up-to-date GeneHancer data (full dataset)
GeneHancers around KRT16 on the GeneHancer Hub at the UCSC Golden Path
Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for KRT16
- Top Transcription factor binding sites by QIAGEN in the KRT16 gene promoter:
-
- ATF-2
- Lmo2
- Pax-6
- RREB-1
- STAT1
- STAT3
- TBP
Genomic Locations for KRT16 Gene
Latest Assembly
- chr17:41,609,778-41,615,899
- (GRCh38/hg38)
- Size:
- 6,122 bases
- Orientation:
- Minus strand
Previous Assembly
- chr17:39,766,030-39,769,019
- (GRCh37/hg19 by Entrez Gene)
- Size:
- 2,990 bases
- Orientation:
- Minus strand
- chr17:39,766,030-39,772,151
- (GRCh37/hg19 by Ensembl)
- Size:
- 6,122 bases
- Orientation:
- Minus strand
Genomic View for KRT16 Gene
Genes around KRT16 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 17q21.2 by HGNC
- 17q21.2 by Entrez Gene
- 17q21.2 by Ensembl
KRT16 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene Density
RefSeq DNA sequence for KRT16 Gene
Proteins for KRT16 Gene
-
Protein details for KRT16 Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- P08779-K1C16_HUMAN
- Recommended name:
- Keratin, type I cytoskeletal 16
- Protein Accession:
- P08779
- A8K488
- P30654
- Q16402
- Q9UBG8
Protein attributes for KRT16 Gene
- Size:
- 473 amino acids
- Molecular mass:
- 51268 Da
- Quaternary structure:
-
- Heterodimer of a type I and a type II keratin. KRT16 associates with KRT6 isomers (KRT6A or KRT6B) (By similarity). Interacts with TCHP (PubMed:15731013). Interacts with TRADD (By similarity).
- Miscellaneous:
-
- There are two types of cytoskeletal and microfibrillar keratin, I (acidic) and II (neutral to basic) (40-55 and 56-70 kDa, respectively).
Protein Expression for KRT16 Gene
Post-translational modifications for KRT16 Gene
Other Protein References for KRT16 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibodies for research
- LifeSpan BioSciences KRT16 / CK16 / Cytokeratin 16 Antibody and KRT16 / CK16 / Cytokeratin 16 Monoclonal Antibody
- NSJ Bioreagents KRT16 Antibody / Cytokeratin 16 (Recombinant Rabbit Monoclonal)
-
Custom Antibody ServicesOriGene Antibodies for KRT16
- AP06197PU-N
- AP09546SU-N
- CF808255
- CF808269
- CF808281
- CF808294
- CF808337
- CF808338
- CF808358
- CF808384
- CF808398
- SM1471-05
- TA312853
- TA322577
- TA322578
- TA346409
- TA346410
- TA347410
- TA348036
- TA353293L
- TA808255
- TA808255S
- TA808269
- TA808269S
- TA808281
- TA808281S
- TA808294
- TA808294S
- TA808337
- TA808337S
- TA808338
- TA808338S
- TA808358
- TA808358S
- TA808384
- TA808384S
- TA808398
- TA808398S
- Novus Biologicals Antibodies for KRT16
- Invitrogen Antibodies for KRT16 (AFLGC-KRT16)
-
Boster Bio Antibodies for KRT16
-
Custom Antibody ServicesProSci Antibodies for KRT16
-
Santa Cruz Biotechnology (SCBT) Antibodies for KRT16
Protein products for research
- Search Origene for MassSpec and Protein Over-expression Lysates for KRT16
- Origene Custom Protein Services for KRT16
- ProSpec Recombinant Proteins for KRT16
- antibodies-online: Show 9 available KRT16 Proteins ranked by validation data
- Compare Top KRT16 Proteins
-
Quality Products:
-
Abcam proteins for KRT16
Assay products for research
- antibodies-online: Show 14 available KRT16 Elisa Kits ranked by validation data
- Compare Top KRT16 Elisa Kits
-
Quality Products:
-
Boster Bio ELISA Kits for KRT16
No data available for DME Specific Peptides for KRT16 Gene
Domains & Families for KRT16 Gene
Gene Families for KRT16 Gene
- HGNC:
- Human Protein Atlas (HPA):
-
- Disease related genes
- Plasma proteins
- Predicted intracellular proteins
Protein Domains for KRT16 Gene
- InterPro:
- Blocks:
-
- Intermediate filament protein
- Type I keratin signature
- ProtoNet:
Suggested Antigen Peptide Sequences for KRT16 Gene
- GenScript: Design optimal peptide antigens:
-
- Keratin-16 (K1C16_HUMAN)
Graphical View of Domain Structure for InterPro Entry
P08779- Family:
-
- Belongs to the intermediate filament family.
Function for KRT16 Gene
Molecular function for KRT16 Gene
- UniProtKB/Swiss-Prot 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.
- GENATLAS Biochemistry:
- keratin 16,type I,hair follicle,nail bed,palmoplantar skin,suprabasal orogenital mucosal keratinocytes,dimerizing with KRT6A,KRT6B
Phenotypes From GWAS Catalog for KRT16 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005198 | structural molecule activity | IEA | -- |
| GO:0005200 | structural constituent of cytoskeleton | IEA,NAS | 2451124 |
| GO:0005515 | protein binding | IPI | 15731013 |
Phenotypes for KRT16 Gene
- MGI mutant phenotypes for KRT16:
- inferred from 1 alleles
- GenomeRNAi human phenotypes for KRT16:
Animal Models for KRT16 Gene
- MGI Knock Outs for KRT16:
-
- Krt16 Krt16<tm1(KOMP)Vlcg>
Animal Models for research
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
CRISPR products for research
- Applied Biological Materials (abm): CRISPR Clones for KRT16 - Starting at $85 >
- * KRT16 CRISPR as ready-to-use vector or virus: Non-viral | Lenti- | Adeno- | AAV- | siRNA - Browse All
- * Cas9 Nucleases, Nickases, Null Mutants, and GFP tag also available.
-
OriGene CRISPR knockouts for KRT16
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for KRT16
-
Santa Cruz Biotechnology (SCBT) CRISPR for KRT16
miRNA for KRT16 Gene
- miRTarBase miRNAs that target KRT16
miRNA products for research
Inhibitory RNAs for research
- Origene shrna, sirna, and RNAi products in human, mouse, rat for KRT16
- Browse OriGene Inhibitory RNA Products For KRT16
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for KRT16
Clone products for research
- Applied Biological Materials (abm): Clones for KRT16 - Starting at $45 >
- * KRT16 as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Retro- | Protein Vector - Browse All
- * Viral Packaging Services and High Titer Production Services also available.
- Sino Biological Human cDNA Clone for KRT16
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for KRT16
Cell Lines for research
-
Horizon Cell Lines for KRT16
No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for KRT16 Gene
Localization for KRT16 Gene
| Compartment | Confidence |
|---|---|
| cytoskeleton | 5 |
| nucleus | 5 |
| cytosol | 5 |
| extracellular | 4 |
| plasma membrane | 2 |
| mitochondrion | 1 |
| peroxisome | 1 |
| endoplasmic reticulum | 1 |
| lysosome | 1 |
| golgi apparatus | 1 |
- Intermediate filaments (2)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005634 | nucleus | HDA | 21630459 |
| GO:0005829 | cytosol | TAS | -- |
| GO:0005856 | cytoskeleton | IDA | 20403371 |
| GO:0005882 | intermediate filament | IEA,NAS | 2451124 |
| GO:0070062 | extracellular exosome | HDA | 19199708 |
No data available for Subcellular locations from UniProtKB/Swiss-Prot for KRT16 Gene
Pathways & Interactions for KRT16 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Relaxin signaling pathway | ||
| 2 | Staphylococcus aureus infection | ||
| 3 | Developmental Biology | ||
| 4 | Keratinization |
.33
|
|
| 5 | Cytoskeleton remodeling Neurofilaments |
Cytoskeleton remodeling Keratin filaments
.32
|
|
Pathways by source for KRT16 Gene
2 Reactome pathways for KRT16 Gene
2 KEGG pathways for KRT16 Gene
1 GeneGo (Thomson Reuters) pathway for KRT16 Gene
- Cytoskeleton remodeling Keratin filaments
Interacting Proteins for KRT16 Gene
Selected Interacting proteins:
P08779-K1C16_HUMAN
ENSP00000301653
for KRT16 Gene via
UniProtKB
STRING
IID
GPS-Prot Interaction Network for KRT16
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0002009 | morphogenesis of an epithelium | IEA,ISS | -- |
| GO:0006954 | inflammatory response | IEA,ISS | -- |
| GO:0007010 | cytoskeleton organization | NAS | 2451124 |
| GO:0007568 | aging | IDA | 21916889 |
| GO:0030216 | keratinocyte differentiation | IEA,ISS | -- |
Transcripts for KRT16 Gene
mRNA/cDNA for KRT16 Gene
- 1 REFSEQ mRNAs :
- 9 NCBI additional mRNA sequence :
- 4 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
-
- ENST00000301653 1658 nts (view in UCSC)
- ENST00000588319 1000 nts (view in UCSC)
- ENST00000590990 499 nts (view in UCSC)
- ENST00000593067 910 nts (view in UCSC)
CRISPR products for research
- Applied Biological Materials (abm): CRISPR Clones for KRT16 - Starting at $85 >
- * KRT16 CRISPR as ready-to-use vector or virus: Non-viral | Lenti- | Adeno- | AAV- | siRNA - Browse All
- * Cas9 Nucleases, Nickases, Null Mutants, and GFP tag also available.
-
OriGene CRISPR knockouts for KRT16
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for KRT16
-
Santa Cruz Biotechnology (SCBT) CRISPR for KRT16
miRNA products for research
Inhibitory RNAs for research
- Origene shrna, sirna, and RNAi products in human, mouse, rat for KRT16
- Browse OriGene Inhibitory RNA Products For KRT16
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for KRT16
Clone products for research
- Applied Biological Materials (abm): Clones for KRT16 - Starting at $45 >
- * KRT16 as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Retro- | Protein Vector - Browse All
- * Viral Packaging Services and High Titer Production Services also available.
- Sino Biological Human cDNA Clone for KRT16
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for KRT16
Relevant External Links for KRT16 Gene
- GeneLoc Exon Structure for
- KRT16
Expression for KRT16 Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
-
Epithelial Cells
- Basal Cells Respiratory Bronchioles
- Fetal Medulla Cells Hair Shaft
- Intermediate Keratinocytes Embryonic Epidermis
- Esophageal keratinocytes
- Epithelial cells (family)
- Bone (Muscoskeletal System)
- Cartilage (Muscoskeletal System)
-
Hair (Integumentary System)
- Fetal Companion Cells Companion Layer
- Fetal Medulla Cells Hair Shaft
- human epithelial stem cells(Yang R et. al. 2014)
-
Lung (Respiratory System)
- Basal Cells Respiratory Bronchioles
- Mature airway epithelial cells(Wong AP et. al. 2012)
-
Epidermis (Integumentary System)
- Intermediate Keratinocytes Embryonic Epidermis
- human epithelial stem cells(Yang R et. al. 2014)
- Gut Tube (Gastrointestinal Tract)
- Thymus (Hematopoietic System)
- Eye (Sensory Organs)
- Esophagus
mRNA differential expression in normal tissues according to GTEx for KRT16 Gene
This gene is overexpressed in Esophagus - Mucosa (x17.8), Skin - Not Sun Exposed (Suprapubic) (x8.7), Minor Salivary Gland (x7.7), Vagina (x7.0), Cervix - Ectocervix (x6.2), and Skin - Sun Exposed (Lower leg) (x4.2).
This gene is overexpressed in Urinary Bladder (35.3), Hair follicle (14.6), and Saliva (6.8).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for KRT16 Gene
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for KRT16
SOURCE GeneReport for Unigene cluster for KRT16 Gene:
Hs.655160mRNA Expression by UniProt/SwissProt for KRT16 Gene:
P08779-K1C16_HUMAN
Tissue specificity:
Expressed in the corneal epithelium (at protein level).
Evidence on tissue expression from TISSUES for KRT16 Gene
- Skin(5)
- Liver(4.4)
- Blood(2.5)
- Nervous system(2.4)
- Lung(2.2)
- Heart(2.1)
Phenotype-based relationships between genes and organs from Gene ORGANizer for KRT16 Gene
Germ Layers:
- ectoderm
- endoderm
- mesoderm
Systems:
- digestive
- immune
- integumentary
- nervous
- respiratory
- skeletal muscle
- skeleton
Regions:
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:
- blood
- hair
- skin
- sweat gland
- white blood cell
Primer products for research
-
OriGene qPCR primer pairs for KRT16
-
OriGene qPCR primer pairs and template standards for KRT16
Gene Expression Assays for research
Orthologs for KRT16 Gene
This gene was present in the common ancestor of chordates.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| Chimpanzee (Pan troglodytes) |
Mammalia | KRT16 30 31 |
|
OneToOne | |
| Dog (Canis familiaris) |
Mammalia | KRT16 30 |
|
||
| -- 31 |
|
ManyToMany | |||
| Rat (Rattus norvegicus) |
Mammalia | Krt16 30 |
|
||
| Cow (Bos Taurus) |
Mammalia | KRT16 30 31 |
|
OneToOne | |
| Mouse (Mus musculus) |
Mammalia | Krt16 30 17 31 |
|
OneToOne | |
| Platypus (Ornithorhynchus anatinus) |
Mammalia | -- 31 |
|
OneToMany | |
| Oppossum (Monodelphis domestica) |
Mammalia | -- 31 |
|
OneToMany | |
| Chicken (Gallus gallus) |
Aves | KRT14 31 |
|
ManyToMany | |
| -- 31 |
|
ManyToMany | |||
| Lizard (Anolis carolinensis) |
Reptilia | -- 31 |
|
ManyToMany | |
| -- 31 |
|
ManyToMany | |||
| Zebrafish (Danio rerio) |
Actinopterygii | Dr.25556 30 |
|
- Species where no ortholog for KRT16 was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Eremothecium 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)
- Rainbow Trout (Oncorhynchus mykiss)
- Rice (Oryza sativa)
- Rice Blast Fungus (Magnaporthe grisea)
- Schistosome Parasite (Schistosoma mansoni)
- Sea Anemone (Nematostella vectensis)
- Sea Vase (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)
Evolution for KRT16 Gene
- ENSEMBL:
- Gene Tree for KRT16 (if available)
- TreeFam:
- Gene Tree for KRT16 (if available)
- Aminode:
- Evolutionary constrained regions (ECRs) for KRT16: view image
Paralogs for KRT16 Gene
Paralogs for KRT16 Gene
- KRT14 5
- KRT17 5
- KRT15 5
- KRT13 5
- KRT10 5
- KRT19 5
- KRT12 5
- KRT24 5
- KRT9 5
- KRT27 5
- KRT25 5
- KRT28 5
- KRT26 5
- KRT36 5
- KRT20 5
- KRT33A 5
- KRT31 5
- KRT35 5
- KRT33B 5
- KRT32 5
- KRT34 5
- KRT18 5
- KRT23 5
- KRT38 5
- KRT39 5
- KRT40 5
- KRT37 5
- KRT6C 5
- KRT6A 5
- KRT5 5
- KRT75 5
- KRT6B 5
- KRT3 5
- KRT84 5
- KRT2 5
- KRT1 5
- KRT76 5
- NEFL 5
- KRT85 5
- KRT77 5
- KRT8 5
- GFAP 5
- DES 5
- INA 5
- KRT4 5
- KRT79 5
- VIM 5
- NEFM 5
- KRT7 5
- KRT81 5
- KRT73 5
- KRT78 5
- LMNA 5
- LMNB2 5
- LMNB1 5
- PRPH 5
- KRT86 5
- KRT83 5
- KRT71 5
- KRT74 5
- BFSP2 5
- KRT80 5
- KRT82 5
- KRT72 5
- SYNM 5
- NES 5
- LMNTD1 5
- ENSG00000264058 5
- KRT222 5
(52) SIMAP similar genes for KRT16 Gene using alignment to 3 proteins:
- K1C16_HUMAN
- K7ENV3_HUMAN
- K7ENW6_HUMAN
- keratin
- KRT14
- K14
- GUCA1B
- JUP
- KRT17
- KRT15
- KRT13
- KRT19
- KRT34
- KRT33A
- KRT33B
- KRT31
- KRT12
- KRT10
- KRT35
- KRT20
- KRT9
- KRT32
- KRT27
- KRT18
- KRT24
- KRT23
- KRT36
- KRTHA7
- KRT38
- KRT37
- KRT28
- KRT26
- KRT25
- KRT39
- KRT7
- KRT40
- VIM
- KRT5
- PRPH
- NEFL
- NEFM
- GFAP
- KRT8
- DES
- KRT75
- KRT3
- KRT1
- INA
- KRT76
- KRT2
- tmp_locus_29
- KRT4
- KRT6C
- KRT6B
- KRT77
Pseudogenes.org Pseudogenes for KRT16 Gene
Variants for KRT16 Gene
Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for KRT16 Gene
| SNP ID | Clinical significance and condition | Chr 17 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| rs112223718 | Benign: not provided. Likely Benign: not provided | 41,612,482(-) |
G/AG/T NM_005557.4(KRT16):c.207C>T (p.Gly69=) |
SYNONYMOUS | |
| rs112891689 | Benign: not provided | 41,611,086(-) |
T/C NM_005557.4(KRT16):c.916A>G (p.Thr306Ala) |
MISSENSE | |
| rs113500657 | Benign: not provided | 41,611,075(-) |
C/T NM_005557.4(KRT16):c.927G>A (p.Leu309=) |
SYNONYMOUS | |
| rs113890856 | Benign: not provided | 41,611,342(-) |
T/C NM_005557.4(KRT16):c.771+3A>G |
INTRON | |
| rs140407898 | Uncertain Significance: not provided | 41,610,924(-) |
C/T NM_005557.4(KRT16):c.989G>A (p.Arg330His) |
MISSENSE |
All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).
| Variant ID | Type | Subtype | PubMed ID |
|---|---|---|---|
| esv2758690 | CNV | gain+loss | 17122850 |
| esv34903 | CNV | gain | 17911159 |
| esv3640591 | CNV | gain | 21293372 |
| nsv1146669 | OTHER | inversion | 26484159 |
| nsv575040 | CNV | gain | 21841781 |
| nsv827992 | CNV | gain | 20364138 |
| nsv962326 | CNV | duplication | 23825009 |
Residual Variation Intolerance Score:
96.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
4.10;
61.07% of all genes are more intolerant (likely to be disease-causing)
Additional Variant Information for KRT16 Gene
SNP Genotyping and Copy Number Assays for research
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for KRT16 Gene
Disorders for KRT16 Gene
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| pachyonychia congenita 1 |
|
|
| palmoplantar keratoderma, nonepidermolytic, focal 1 |
|
|
| focal palmoplantar keratoderma |
|
|
| palmoplantar keratoderma, epidermolytic |
|
|
| palmoplantar keratoderma, nonepidermolytic |
|
|
Search KRT16 in MalaCards
View complete list of genes associated with diseases
UniProtKB/Swiss-Prot
K1C16_HUMAN- Pachyonychia congenita 1 (PC1) [MIM:167200]: An autosomal dominant ectodermal dysplasia characterized by hypertrophic nail dystrophy resulting in onchyogryposis (thickening and increase in curvature of the nail), palmoplantar keratoderma, follicular hyperkeratosis, and oral leukokeratosis. Hyperhidrosis of the hands and feet is usually present. {ECO:0000269 PubMed:10521820, ECO:0000269 PubMed:10606845, ECO:0000269 PubMed:10839714, ECO:0000269 PubMed:11359398, ECO:0000269 PubMed:11886499, ECO:0000269 PubMed:16250206, ECO:0000269 PubMed:17719747, ECO:0000269 PubMed:21160496, ECO:0000269 PubMed:21326300, ECO:0000269 PubMed:22668561, ECO:0000269 PubMed:24118415, ECO:0000269 PubMed:7539673}. Note=The disease is caused by variants affecting the gene represented in this entry.
- Keratoderma, palmoplantar, non-epidermolytic, focal 1 (FNEPPK1) [MIM:613000]: A dermatological disorder characterized by non-epidermolytic palmoplantar keratoderma limited to the pressure points on the balls of the feet, with later mild involvement on the palms. Oral, genital and follicular keratotic lesions are often present. {ECO:0000269 PubMed:8595410}. Note=The disease is caused by variants affecting the gene represented in this entry.
- Note=KRT16 and KRT17 are coexpressed only in pathological situations such as metaplasias and carcinomas of the uterine cervix and in psoriasis vulgaris.
Additional Disease Information for KRT16
- Atlas
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No data available for Genatlas for KRT16 Gene
Publications for KRT16 Gene
- Novel keratin 16 mutations and protein expression studies in pachyonychia congenita type 1 and focal palmoplantar keratoderma. (PMID: 10839714) Smith FJ … McLean WH (Experimental dermatology 2000) 3 4 23 74
- A spectrum of mutations in keratins K6a, K16 and K17 causing pachyonychia congenita. (PMID: 17719747) Liao H … Smith FJ (Journal of dermatological science 2007) 3 4 23
- Novel and recurrent mutations in the genes encoding keratins K6a, K16 and K17 in 13 cases of pachyonychia congenita. (PMID: 11886499) Terrinoni A … McLean WH (The Journal of investigative dermatology 2001) 3 4 23
- Delayed-onset pachyonychia congenita associated with a novel mutation in the central 2B domain of keratin 16. (PMID: 11359398) Connors JB … Milstone LM (The British journal of dermatology 2001) 3 4 23
- A mutation in the V1 domain of K16 is responsible for unilateral palmoplantar verrucous nevus. (PMID: 10844556) Terrinoni A … Melino G (The Journal of investigative dermatology 2000) 3 4 23
ExternalLinks
Products for KRT16 Gene
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