Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

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

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
rs58608173	T>C	Pathogenic	Missense variant, coding sequence variant
rs59328451	T>A	Likely-pathogenic, pathogenic	Missense variant, coding sequence variant
rs59349773	T>C,G	Likely-pathogenic, pathogenic, not-provided	Missense variant, coding sequence variant
rs59856285	G>A,C	Pathogenic	Missense variant, coding sequence variant
rs60723330	T>C	Pathogenic	Missense variant, coding sequence variant
rs60944949	A>G	Pathogenic	Missense variant, coding sequence variant
rs587777717	TT>CC	Pathogenic	Coding sequence variant, missense variant
rs1555573633	CGCCCTCCAGCAGGCGGCGGTAGGTGG>GCC	Pathogenic	Coding sequence variant, inframe indel

Show/Hide all (8)

miRTarBase ID	miRNA	Experiments
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
MIRT1101155	hsa-miR-4646-5p	CLIP-seq
MIRT1101156	hsa-miR-4768-3p	CLIP-seq
MIRT1101157	hsa-miR-665	CLIP-seq

Show/Hide all (4)

Transcription factor	Regulation	Reference
EP300	Activation	12954631;16214953
JUN	Activation	12954631;16214953
NFE2L2	Activation	18629308
SP1	Activation	12954631

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
GO:0005200	Function	Structural constituent of cytoskeleton	IEA
GO:0005200	Function	Structural constituent of cytoskeleton	NAS	2451124
GO:0005515	Function	Protein binding	IPI	15731013, 32296183, 33961781
GO:0005634	Component	Nucleus	HDA	21630459
GO:0005829	Component	Cytosol	IEA
GO:0005829	Component	Cytosol	TAS
GO:0005856	Component	Cytoskeleton	IBA
GO:0005856	Component	Cytoskeleton	IDA	20403371
GO:0005882	Component	Intermediate filament	IEA
GO:0005882	Component	Intermediate filament	NAS	2451124
GO:0006954	Process	Inflammatory response	IEA
GO:0006954	Process	Inflammatory response	ISS
GO:0007010	Process	Cytoskeleton organization	NAS	2451124
GO:0030216	Process	Keratinocyte differentiation	IBA
GO:0030216	Process	Keratinocyte differentiation	IEA
GO:0030216	Process	Keratinocyte differentiation	ISS
GO:0030280	Function	Structural constituent of skin epidermis	IBA
GO:0030336	Process	Negative regulation of cell migration	IDA	20403371
GO:0031424	Process	Keratinization	IEA
GO:0031424	Process	Keratinization	ISS
GO:0042633	Process	Hair cycle	IDA	21916889
GO:0045087	Process	Innate immune response	IEA
GO:0045087	Process	Innate immune response	ISS
GO:0045095	Component	Keratin filament	IBA
GO:0045104	Process	Intermediate filament cytoskeleton organization	IEA
GO:0045109	Process	Intermediate filament organization	IBA
GO:0051546	Process	Keratinocyte migration	IEA
GO:0051546	Process	Keratinocyte migration	ISS
GO:0061436	Process	Establishment of skin barrier	IEA
GO:0061436	Process	Establishment of skin barrier	ISS
GO:0070062	Component	Extracellular exosome	HDA	19199708

MIM	HGNC	e!Ensembl
148067	6423	ENSG00000186832

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

MTTCSRQFTSSSSMKGSCGIGGGIGGGSSRISSVLAGGSCRAPSTYGGGLSVSSRFSSGG
ACGLGGGYGGGFSSSSSFGSGFGGGYGGGLGAGFGGGLGAGFGGGFAGGDGLLVGSEKVT
MQNLNDRLASYLDKVRALEEANADLEVKIRDWYQRQRPSEIKDYSPYFKTIEDLRNKIIA
ATIENAQPILQIDNARLAADDFRTKYEHELALRQTVEADVNGLRRVLDELTLARTDLEMQ
IEGLKEELAYLRKNHEEEMLALRGQTGGDVNVEMDAAPGVDLSRILNEMRDQYEQMAEKN
RRDAETWFLSKTEELNKEVASNSELVQSSRSEVTELRRVLQGLEIELQSQLSMKASLENS
LEETKGRYCMQLSQIQGLIGSVEEQLAQLRCEMEQQSQEYQILLDVKTRLEQEIATYRRL
LEGEDAHLSSQQASGQSYSSREVFTSSSSSSSRQTRPILKEQSSSSFSQGQSS

Sequence length

473

Interactions

View interactions

	KEGG		Reactome
	Estrogen signaling pathway Staphylococcus aureus infection		Keratinization Formation of the cornified envelope

Show/Hide Causal Diseases (3)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
KRT16-related disorder	Pathogenic	rs59856285	RCV003415709
Pachyonychia congenita 1	Pathogenic; Likely pathogenic	rs587777717, rs59349773, rs59856285, rs60944949, rs60723330, rs58181827, rs57424749, rs58293603, rs28928894, rs28928895, rs58608173	RCV000144082 RCV000198279 RCV002494798 RCV000015704 RCV000578284 RCV000144080 RCV000015707 RCV000015708 RCV000015709 RCV000015710 RCV000015712 RCV000015713 RCV002504957 RCV000144081
Palmoplantar keratoderma, nonepidermolytic, focal 1	Pathogenic; Likely pathogenic	rs59856285, rs2508756879, rs60723330, rs28928894, rs1555573633, rs58293603	RCV002494798 RCV003448795 RCV000015705 RCV000015706 RCV002496376 RCV000015714 RCV002504957

Show/Hide Unknown Diseases (3)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
EBV-positive nodal T- and NK-cell lymphoma	Likely benign	rs2508755942	RCV004557762
Malignant tumor of urinary bladder	Conflicting classifications of pathogenicity	rs147423442	RCV005910691
Palmoplantar keratoderma, epidermolytic	Conflicting classifications of pathogenicity	rs142750223	RCV000714559

Show/Hide Text Mining Associations (52)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
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
Carcinoma Squamous Cell	Associate	1379783, 16989503, 19176476, 23379751, 2479695, 35769468, 37442189
Cholesteatoma	Associate	8703383
Colorectal Neoplasms	Associate	32651213
Dermatitis Allergic Contact	Associate	35028126
Dermatitis Atopic	Associate	30685456, 30787169, 33717163
Drug Eruptions	Associate	26946987
Epidermal Cyst	Associate	2458356, 2473080, 2479695
Food Hypersensitivity	Associate	30787169
Head and Neck Neoplasms	Associate	20443891
Histiocytoma Benign Fibrous	Associate	2479695
HIV Infections	Associate	22747944
Hyperkeratosis of the palms and soles and esophageal papillomas	Associate	19609311
Hyperplasia	Stimulate	16470182
Hyperplasia	Associate	25482871, 30685456, 30738171
Ichthyosis	Associate	27554821
Ichthyosis Lamellar	Associate	9204952
Infections	Associate	19153227
Inflammation	Associate	17392834, 27415000
Keratoconus	Associate	23727491, 36240204
Keratoderma Palmoplantar Epidermolytic	Associate	34199056
Lupus Erythematosus Systemic	Inhibit	19089296
Melanoma	Associate	29229936, 29377892, 32934956
Melanoma Cutaneous Malignant	Associate	32934956
Mucocutaneous Lymph Node Syndrome	Associate	26946987
Nail Diseases	Associate	19609311, 21160496
Neoplasms	Associate	16989503, 22073364, 2479695, 29377892, 35022570
Neoplasms	Stimulate	28418924
Nephrosis Lipoid	Associate	19609311
Nevus	Associate	32934956
Nevus Pigmented	Associate	32934956
Nevus Sebaceous of Jadassohn	Associate	10844556, 29166506
Pachyonychia Congenita	Associate	11886499, 14594585, 17511954, 19609311, 21160496, 21326300, 21390048, 24611874, 25656049, 28648685, 34116063, 34724947, 36116508, 36658016, 37317732
Pain	Associate	34116063
Pancreatic Neoplasms	Associate	28418924
Peritonitis	Associate	29229936
Psoriasis	Associate	18669614, 29784039
Squamous Cell Carcinoma of Head and Neck	Associate	16080511, 32468250, 34693597
Testicular Germ Cell Tumor	Associate	20977544
Tinea	Associate	17392834
Trichilemmal Cyst 1	Associate	17091763
Ulcer	Associate	18413645, 8651025
Urinary Bladder Neoplasms	Associate	40481075

KRT16 (keratin 16)