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	3851
Gene name	Keratin 4
Gene symbol	KRT4
Synonyms (NCBI Gene)	CK-4CK4CYK4K4WSN1
Chromosome	12
Chromosome location	12q13.13
Summary	The protein encoded by this gene is a member of the keratin gene family. The type II cytokeratins consist of basic or neutral proteins which are arranged in pairs of heterotypic keratin chains coexpressed during differentiation of simple and stratified ep

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SNP ID	Visualize variation	Clinical significance	Consequence
rs587776844	TTG>-	Pathogenic	Coding sequence variant, inframe deletion
rs587776845	->TGT	Pathogenic	Coding sequence variant, inframe indel

Show/Hide all (14)

miRTarBase ID	miRNA	Experiments	Reference
MIRT017456	hsa-miR-335-5p	Microarray	18185580
MIRT029264	hsa-miR-26b-5p	Microarray	19088304
MIRT2027576	hsa-miR-1252	CLIP-seq
MIRT2027577	hsa-miR-3616-5p	CLIP-seq
MIRT2027578	hsa-miR-3647-5p	CLIP-seq
MIRT2027579	hsa-miR-4795-5p	CLIP-seq
MIRT2027580	hsa-miR-573	CLIP-seq
MIRT2258888	hsa-miR-2114	CLIP-seq
MIRT2258889	hsa-miR-339-5p	CLIP-seq
MIRT2438265	hsa-miR-3117-5p	CLIP-seq
MIRT2438266	hsa-miR-4659a-3p	CLIP-seq
MIRT2438267	hsa-miR-4659b-3p	CLIP-seq
MIRT2438268	hsa-miR-483-3p	CLIP-seq
MIRT2438269	hsa-miR-942	CLIP-seq

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Transcription factor	Regulation	Reference
ELF3	Repression	10773884

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GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	17709412, 22458338, 25416956, 29892012, 30021884, 31391242, 31515488, 32296183, 33961781
GO:0005634	Component	Nucleus	HDA	21630459
GO:0005829	Component	Cytosol	IEA
GO:0005829	Component	Cytosol	TAS
GO:0005882	Component	Intermediate filament	IEA
GO:0005882	Component	Intermediate filament	NAS	2452170
GO:0007010	Process	Cytoskeleton organization	IMP	21371075
GO:0007010	Process	Cytoskeleton organization	NAS	2452170
GO:0009986	Component	Cell surface	IDA	17709412
GO:0030280	Function	Structural constituent of skin epidermis	IBA
GO:0030855	Process	Epithelial cell differentiation	IEA
GO:0030855	Process	Epithelial cell differentiation	ISS
GO:0031424	Process	Keratinization	IBA
GO:0045095	Component	Keratin filament	IBA
GO:0045095	Component	Keratin filament	IDA	21371075
GO:0045095	Component	Keratin filament	IEA
GO:0045109	Process	Intermediate filament organization	IBA
GO:0045111	Component	Intermediate filament cytoskeleton	IDA	21371075
GO:0050680	Process	Negative regulation of epithelial cell proliferation	IEA
GO:0050680	Process	Negative regulation of epithelial cell proliferation	ISS

MIM	HGNC	e!Ensembl
123940	6441	ENSG00000170477

P19013

Protein name

Keratin, type II cytoskeletal 4 (Cytokeratin-4) (CK-4) (Keratin-4) (K4) (Type-II keratin Kb4)

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF16208	Keratin_2_head	14 → 147	Keratin type II head	Family
PF00038	Filament	150 → 463	Intermediate filament protein	Coiled-coil

Tissue specificity

TISSUE SPECIFICITY: Detected in the suprabasal layer of the stratified epithelium of the esophagus, exocervix, vagina, mouth and lingual mucosa, and in cells and cell clusters in the mucosa and serous gland ducts of the esophageal submucosa (at protein le

Sequence

MIARQQCVRGGPRGFSCGSAIVGGGKRGAFSSVSMSGGAGRCSSGGFGSRSLYNLRGNKS
ISMSVAGSRQGACFGGAGGFGTGGFGGGFGGSFSGKGGPGFPVCPAGGIQEVTINQSLLT
PLHVEIDPEIQKVRTEEREQIKLLNNKFASFIDKVQFLEQQNKVLETKWNLLQQQTTTTS
SKNLEPLFETYLSVLRKQLDTLGNDKGRLQSELKTMQDSVEDFKTKYEEEINKRTAAEND
FVVLKKDVDAAYLNKVELEAKVDSLNDEINFLKVLYDAELSQMQTHVSDTSVVLSMDNNR
NLDLDSIIAEVRAQYEEIAQRSKAEAEALYQTKVQQLQISVDQHGDNLKNTKSEIAELNR
MIQRLRAEIENIKKQCQTLQVSVADAEQRGENALKDAHSKRVELEAALQQAKEELARMLR
EYQELMSVKLALDIEIATYRKLLEGEEYRMSGECQSAVSISVVSGSTSTGGISGGLGSGS
GFGLSSGFGSGSGSGFGFGGSVSGSSSSKIISTTTLNKRR

Sequence length

520

Interactions

View interactions

	Reactome
			Keratinization Formation of the cornified envelope

Show/Hide Causal Diseases (1)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
White sponge nevus 1	Pathogenic	rs587776844, rs587776845, rs62642055	RCV000018420 RCV000018421 RCV000018422

Show/Hide Unknown Diseases (1)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
KRT4-related disorder	Likely benign; Benign	rs371875636, rs113928381, rs2638525, rs201795280, rs7959052, rs36143766, rs7956809, rs200484321	RCV003909382 RCV003930317 RCV003967901 RCV003910145 RCV003967900 RCV003920287 RCV003977905 RCV003915994

Show/Hide Text Mining Associations (22)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Adenocarcinoma	Associate	35328735, 9930073
Barrett Esophagus	Associate	35328735
Carcinoma Hepatocellular	Associate	12679910
Carcinoma Squamous Cell	Associate	21897749, 9930073
Carcinoma Squamous Cell	Inhibit	24051697
Cardiomyopathy infantile histiocytoid	Associate	19843013
Cholesteatoma	Associate	25093596
Eosinophilic Esophagitis	Inhibit	28104354
Esophageal Neoplasms	Associate	10802067
Esophageal Squamous Cell Carcinoma	Associate	17187659, 21498718
Leukemia Myeloid Acute	Associate	30480765
Leukokeratosis Hereditary Mucosal	Associate	10652003, 29476668, 36553451
Melanoma	Associate	22032772
Mesothelioma	Associate	2414994
Neoplasms	Associate	19509549, 22350791, 35163645, 37382632, 7678716
Ovarian Neoplasms	Associate	35163645
Pancreatic Neoplasms	Associate	1372155
Pterygium	Associate	19956562
Retinal Dysplasia	Associate	17187659
Squamous Cell Carcinoma of Head and Neck	Associate	18254958, 19835631, 37092360, 37185487
Squamous Intraepithelial Lesions	Associate	24051697
Urinary Bladder Neoplasms	Associate	12778082

KRT4 (keratin 4)