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	3861
Gene name	Keratin 14
Gene symbol	KRT14
Synonyms (NCBI Gene)	CK14EBS1EBS1AEBS1BEBS1CEBS1DEBS3EBS4K14NFJ
Chromosome	17
Chromosome location	17q21.2
Summary	This gene encodes a member of the keratin family, the most diverse group of intermediate filaments. This gene product, a type I keratin, is usually found as a heterotetramer with two keratin 5 molecules, a type II keratin. Together they form the cytoskele

Show/Hide all (30)

SNP ID	Visualize variation	Clinical significance	Consequence
rs28928893	A>G	Pathogenic, not-provided	Missense variant, coding sequence variant
rs56974573	CCT>-	Pathogenic, not-provided	Inframe deletion, coding sequence variant
rs57121345	T>G	Pathogenic, not-provided	Missense variant, coding sequence variant
rs57278315	GC>-	Pathogenic, not-provided	Frameshift variant, coding sequence variant
rs57358989	C>T	Pathogenic, not-provided	Missense variant, coding sequence variant
rs57364972	A>T	Pathogenic, not-provided	Missense variant, coding sequence variant
rs58330629	C>A,G,T	Pathogenic, not-provided	Missense variant, coding sequence variant
rs58380626	A>G	Pathogenic	Missense variant, coding sequence variant
rs58645163	C>G,T	Pathogenic, not-provided	Missense variant, coding sequence variant
rs58762773	C>G,T	Pathogenic, not-provided	Missense variant, coding sequence variant
rs59629244	A>G	Pathogenic, not-provided	Missense variant, coding sequence variant
rs59966597	G>A,C	Pathogenic, not-provided	Missense variant, coding sequence variant
rs60090257	C>T	Pathogenic	Stop gained, coding sequence variant
rs60171927	T>C	Pathogenic	Missense variant, coding sequence variant
rs60231560	A>-	Pathogenic, not-provided	Frameshift variant, coding sequence variant
rs60399023	G>A,C	Pathogenic, not-provided	Missense variant, coding sequence variant
rs60725382	A>G,T	Pathogenic, not-provided	Synonymous variant, stop gained, coding sequence variant
rs60831116	G>A,T	Pathogenic, benign, not-provided	Synonymous variant, stop gained, coding sequence variant
rs61027685	C>A,G,T	Pathogenic, not-provided	Missense variant, coding sequence variant
rs61371557	A>C,G	Pathogenic, not-provided	Missense variant, coding sequence variant
rs61664582	C>A,T	Pathogenic, not-provided	Stop gained, missense variant, coding sequence variant
rs200779504	T>G	Not-provided, pathogenic	Splice acceptor variant
rs267607390	C>-	Not-provided, pathogenic	Frameshift variant, coding sequence variant
rs267607391	G>A	Not-provided, pathogenic	Stop gained, coding sequence variant
rs267607400	G>A	Pathogenic	Stop gained, coding sequence variant
rs1064794983	G>A,T	Likely-pathogenic	Coding sequence variant, missense variant
rs1555571791	G>-	Pathogenic	Stop gained, coding sequence variant
rs1555571799	A>G	Likely-pathogenic	Coding sequence variant, missense variant
rs1567738332	T>-	Likely-pathogenic	Stop gained, coding sequence variant
rs1597798429	GGAGC>-	Likely-pathogenic	Frameshift variant, coding sequence variant

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miRTarBase ID	miRNA	Experiments	Reference
MIRT023065	hsa-miR-124-3p	Proteomics;Microarray	18668037
MIRT023354	hsa-miR-122-5p	Microarray	17612493
MIRT1101140	hsa-miR-4722-5p	CLIP-seq
MIRT1101141	hsa-miR-4768-3p	CLIP-seq
MIRT1101142	hsa-miR-635	CLIP-seq

Show/Hide all (2)

Transcription factor	Regulation	Reference
SMAD7	Repression	15023526
SP1	Repression	22911849

Show/Hide all (31)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001533	Component	Cornified envelope	IEA
GO:0002009	Process	Morphogenesis of an epithelium	IBA
GO:0005198	Function	Structural molecule activity	IEA
GO:0005200	Function	Structural constituent of cytoskeleton	TAS	7525408
GO:0005515	Function	Protein binding	IPI	10852826, 11684708, 15671067, 15731013, 22705788, 24940650, 27798626, 30021884, 31995743, 32296183, 33961781
GO:0005634	Component	Nucleus	HDA	21630459
GO:0005634	Component	Nucleus	IDA	11724817
GO:0005634	Component	Nucleus	IEA
GO:0005737	Component	Cytoplasm	IDA	11724817, 20346438, 32179842
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	IEA
GO:0005829	Component	Cytosol	TAS
GO:0005856	Component	Cytoskeleton	IBA
GO:0005882	Component	Intermediate filament	IDA	10852826
GO:0005882	Component	Intermediate filament	IEA
GO:0008544	Process	Epidermis development	TAS	7525408
GO:0009314	Process	Response to radiation	IEA
GO:0030216	Process	Keratinocyte differentiation	IBA
GO:0030216	Process	Keratinocyte differentiation	IEA
GO:0030280	Function	Structural constituent of skin epidermis	IBA
GO:0042633	Process	Hair cycle	IDA	21916889
GO:0045095	Component	Keratin filament	IBA
GO:0045095	Component	Keratin filament	IDA	7679677, 22705788
GO:0045095	Component	Keratin filament	IEA
GO:0045109	Process	Intermediate filament organization	IBA
GO:0045110	Process	Intermediate filament bundle assembly	IMP	11724817
GO:0045178	Component	Basal part of cell	IEA
GO:0048863	Process	Stem cell differentiation	IEA
GO:0070062	Component	Extracellular exosome	HDA	19199708
GO:0071944	Component	Cell periphery	IEA
GO:1990254	Function	Keratin filament binding	IPI	20346438

MIM	HGNC	e!Ensembl
148066	6416	ENSG00000186847

P02533

Protein name

Keratin, type I cytoskeletal 14 (Cytokeratin-14) (CK-14) (Keratin-14) (K14)

Protein function

The nonhelical tail domain is involved in promoting KRT5-KRT14 filaments to self-organize into large bundles and enhances the mechanical properties involved in resilience of keratin intermediate filaments in vitro.

PDB

3TNU , 6JFV

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00038	Filament	114 → 425	Intermediate filament protein	Coiled-coil

Tissue specificity

TISSUE SPECIFICITY: Expressed in the corneal epithelium (at protein level) (PubMed:26758872). Detected in the basal layer, lowered within the more apically located layers specifically in the stratum spinosum, stratum granulosum but is not detected in stra

Sequence

MTTCSRQFTSSSSMKGSCGIGGGIGGGSSRISSVLAGGSCRAPSTYGGGLSVSSSRFSSG
GACGLGGGYGGGFSSSSSSFGSGFGGGYGGGLGAGLGGGFGGGFAGGDGLLVGSEKVTMQ
NLNDRLASYLDKVRALEEANADLEVKIRDWYQRQRPAEIKDYSPYFKTIEDLRNKILTAT
VDNANVLLQIDNARLAADDFRTKYETELNLRMSVEADINGLRRVLDELTLARADLEMQIE
SLKEELAYLKKNHEEEMNALRGQVGGDVNVEMDAAPGVDLSRILNEMRDQYEKMAEKNRK
DAEEWFFTKTEELNREVATNSELVQSGKSEISELRRTMQNLEIELQSQLSMKASLENSLE
ETKGRYCMQLAQIQEMIGSVEEQLAQLRCEMEQQNQEYKILLDVKTRLEQEIATYRRLLE
GEDAHLSSSQFSSGSQSSRDVTSSSRQIRTKVMDVHDGKVVSTHEQVLRTKN

Sequence length

472

Interactions

View interactions

	KEGG		Reactome
	Estrogen signaling pathway Staphylococcus aureus infection		Type I hemidesmosome assembly Keratinization Formation of the cornified envelope

Show/Hide Causal Diseases (12)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Abnormality of the skin	Pathogenic	rs60231560	RCV001814040
Dermatopathia pigmentosa reticularis	Likely pathogenic; Pathogenic	rs752374133, rs28928893, rs58330629, rs60831116, rs61263401	RCV002249091 RCV002249092 RCV003137528 RCV000015731 RCV002247454
Epidermolysis bullosa simplex	Pathogenic	rs1907395416, rs1907400034, rs1907401835, rs773920224, rs60399023, rs267607389, rs59442925, rs60338701, rs60470268, rs61027685, rs267607406, rs61371557	RCV001352835 RCV001352832 RCV001352831 RCV001352830 RCV000679886 RCV001352833 RCV001352834 RCV001352789 RCV001352937 RCV001352828 RCV001352829 RCV003993782
Epidermolysis bullosa simplex 1A, generalized severe	Pathogenic; Likely pathogenic	rs2144582186, rs2508734157, rs59629244, rs60399023, rs58330629, rs28928893, rs57364972, rs60171927, rs61371557, rs58393329, rs58357841, rs60090257	RCV001775534 RCV003388735 RCV003387723 RCV000015716 RCV000015717 RCV000015723 RCV000015727 RCV000015733 RCV003989195 RCV003338401 RCV001778696 RCV005862961 RCV003989311
Epidermolysis bullosa simplex 1C, localized	Pathogenic; Likely pathogenic	rs57358989, rs58762773, rs56974573, rs61536893, rs58393329, rs58330629	RCV000015724 RCV001731186 RCV000015719 RCV001777147 RCV001823105 RCV005862961
Epidermolysis bullosa simplex 1D, generalized, intermediate or severe, autosomal recessive	Pathogenic; Likely pathogenic	rs528295894, rs57121345, rs60725382, rs58393329, rs57278315, rs58330629, rs200779504, rs61371557, rs60090257, rs60231560	RCV002052092 RCV000015718 RCV000015720 RCV003338402 RCV000015732 RCV005862961 RCV000015722 RCV005256559 RCV006252605 RCV000015729
Epidermolysis bullosa simplex, Koebner type	Likely pathogenic; Pathogenic	rs59629244, rs60399023, rs61371557, rs58380626, rs61664582, rs61263401, rs58330629, rs58560979	RCV000015715 RCV002243645 RCV000015721 RCV001731185 RCV001778695 RCV001778697 RCV005862961 RCV001807773
KRT14-related disorder	Pathogenic	rs60399023, rs58330629, rs28928893	RCV003924837 RCV003407339 RCV004754262
Naegeli-Franceschetti-Jadassohn syndrome	Pathogenic	rs267607390, rs267607391	RCV000015730 RCV000415603
Palmoplantar blistering	Pathogenic	rs59966597	RCV000626696
	Pathogenic	rs60231560	RCV001291416
Skin fragility with non-scarring blistering	Pathogenic	rs59966597	RCV000626696

Show/Hide Unknown Diseases (1)

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	rs2508733925	RCV004557760

Show/Hide Text Mining Associations (105)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
AA amyloidosis	Associate	32861330
Acute Disease	Associate	24335474
Adenocarcinoma	Associate	9930073
Adenocarcinoma of Lung	Associate	38240936
Allergic Fungal Sinusitis	Stimulate	21177983
Ameloblastoma	Associate	28390135
Angina Unstable	Associate	35437049
Anus Neoplasms	Associate	20563874
Arthritis Psoriatic	Associate	29784039
Astrocytoma	Associate	17217540
Blister	Associate	17039244, 1721080, 19847192, 25961909, 32927888, 34643242, 35490743, 7561171, 9284105, 9804357
Brain Injuries Diffuse	Associate	28199407
Breast Neoplasms	Stimulate	15990899
Breast Neoplasms	Associate	16941011, 1705754, 17217540, 17263897, 18275599, 18510725, 18536655, 19855377, 20426817, 20482762, 21801876, 25012653, 30236106, 31829259
Calcinosis Cutis	Associate	17217540
Carcinoma Adenoid Cystic	Associate	28152077
Carcinoma Basal Cell	Associate	1383350, 17217540, 18752048, 23702728, 29135512, 31047981, 33538412
Carcinoma Ductal	Associate	11487275, 7535804
Carcinoma in Situ	Associate	17187659, 33650041
Carcinoma Intraductal Noninfiltrating	Associate	1705754, 30236106
Carcinoma Mucoepidermoid	Associate	34247629
Carcinoma Signet Ring Cell	Associate	23573317
Carcinoma Squamous Cell	Associate	16989503, 20614292, 21897749, 23106579, 24168496, 25961909, 32170368, 33658703, 9516889, 9930073
Carcinoma Squamous Cell	Inhibit	26084998
Carcinoma Transitional Cell	Associate	9516889
Cardiomyopathy infantile histiocytoid	Associate	19843013
Cystic Fibrosis	Stimulate	21177983
Death	Stimulate	21801876
Dermatitis Atopic	Associate	30787169
Dermatomyositis	Associate	40140985
Dermatopathia pigmentosa reticularis	Associate	16960809
Diabetes Mellitus	Associate	25446319
Diabetes Mellitus	Inhibit	28403359
Drug Related Side Effects and Adverse Reactions	Associate	14660619
Ectodermal Dysplasia	Associate	16960809
Ectodermal Dysplasia Skin Fragility Syndrome	Associate	11407989, 21326298, 34680898
Eosinophilic Esophagitis	Stimulate	28104354
Epidermal Cyst	Associate	2458356
Epidermolysis Bullosa	Associate	17476356, 36578049
Epidermolysis Bullosa Simplex	Associate	10383750, 10733662, 11407988, 11407989, 11710919, 11973334, 1371287, 14660619, 15647384, 16098032, 16439965, 16960809, 17039244, 1721080, 19847192 View all (36 more)
Epidermolysis Bullosa Simplex Autosomal Recessive	Associate	11918708, 14578178, 7525408
Epidermolysis bullosa simplex with mottled pigmentation	Associate	9129237
Epidermolysis bullosa with pyloric atresia	Associate	21844930
Esophageal Squamous Cell Carcinoma	Stimulate	17187659
Esophageal Squamous Cell Carcinoma	Associate	27797221, 31048097
Food Hypersensitivity	Associate	30787169
Genetic Diseases Inborn	Associate	7688477, 8799157
Glaucoma Open Angle	Associate	36002796
Glucose Galactose Malabsorption	Associate	25633990
Hepatitis Chronic	Associate	9011570
Histiocytoma Benign Fibrous	Associate	2479695
HIV Infections	Associate	22747944
Hyperglycemia	Associate	21890681
Hypospadias	Associate	39909126
Idiopathic Pulmonary Fibrosis	Associate	26390052, 27423691
Idiopathic subglottic tracheal stenosis	Stimulate	35141889
Infections	Associate	19153227
Inflammatory Breast Neoplasms	Associate	18230143
Keratoconus	Associate	36240204
Laryngotracheal Stenosis Progressive with Short Stature and Arthropathy	Associate	35141889
Leukoplakia	Associate	15995578
Lichen Planus Oral	Associate	15995578, 19776502, 24608215
Lichenoid Eruptions	Associate	15764042
Lung Diseases Interstitial	Associate	28199407
Lung Neoplasms	Associate	23106579
Lupus Erythematosus Systemic	Associate	19089296
Lymphoma Non Hodgkin	Inhibit	26084998
Melanoma	Associate	29377892, 31673075, 36553569
Mesothelioma	Associate	2414994
Mouth Diseases	Associate	19776502
Naegeli syndrome	Associate	16960809, 18049449
Neoplasm Invasiveness	Associate	18536655
Neoplasm Metastasis	Stimulate	17217540
Neoplasm Metastasis	Associate	21801876, 28152077, 35054979
Neoplasms	Associate	11487275, 15990899, 15995578, 16050957, 16989503, 17263897, 18036263, 18275599, 21801876, 22073364, 22308455, 23330018, 23573331, 2466404, 25972552 View all (11 more)
Neoplasms	Stimulate	17217540
Neoplasms Glandular and Epithelial	Associate	23264211
Neoplasms Squamous Cell	Associate	23827819
Neoplastic Syndromes Hereditary	Associate	32283594
Non Muscle Invasive Bladder Neoplasms	Associate	31500577, 33538412, 33650041, 34707176
Odontoma	Associate	28390135, 38133085
Ovarian Neoplasms	Associate	31315664, 32512936
Periapical Diseases	Associate	23264211
Peritonitis	Associate	36446780
Prostatic Intraepithelial Neoplasia	Associate	9033282
Psoriasis	Associate	29784039
Pyruvate Carboxylase Deficiency Disease	Associate	38133771
Reflex Abnormal	Associate	9804355
Retinal Dysplasia	Associate	17187659
Sarcoma Kaposi	Associate	16616289
Sensation Disorders	Associate	11487275
Skin Diseases	Associate	29130490
Skin Diseases Vesiculobullous	Associate	15647384
Spastic paraplegia 11 autosomal recessive	Associate	1689541
Squamous Cell Carcinoma of Head and Neck	Associate	16080511, 32468250
Thyroid Cancer Papillary	Associate	36438899
Tinea	Associate	17392834
Trichilemmal Cyst 1	Associate	17091763
Triple Negative Breast Neoplasms	Associate	19855377, 30335837, 32266539, 36446780
Tubular Sweat Gland Adenomas	Associate	16222893
Urethral Neoplasms	Associate	23106579, 26606927, 29249035
Urinary Bladder Neoplasms	Associate	22308455
Uterine Cervical Neoplasms	Associate	1379783
Vascular Diseases	Associate	21890681
Virus Diseases	Associate	22685561

KRT14 (keratin 14)