KRT4 (keratin 4)

Gene

• Entrez ID: 3851
• Gene name: Keratin 4
• Gene symbol: KRT4
• Synonyms: CK-4, CK4, CYK4, K4, WSN1
• 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

SNPs

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

miRNA

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

Transcription factors

Transcription factor	Regulation	Reference
ELF3	Repression	10773884

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	17709412, 22458338, 25416956, 29892012, 31391242, 31515488, 32296183
GO:0005634	Component	Nucleus	HDA	21630459
GO:0005829	Component	Cytosol	TAS
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:0030855	Process	Epithelial cell differentiation	ISS
GO:0031424	Process	Keratinization	TAS
GO:0045095	Component	Keratin filament	IDA	21371075
GO:0045111	Component	Intermediate filament cytoskeleton	IDA	21371075
GO:0050680	Process	Negative regulation of epithelial cell proliferation	ISS
GO:0070268	Process	Cornification	TAS

Other IDs

• MIM: 123940
• HGNC: 6441
• e!Ensembl: ENSG00000170477

Protein

• UniProt ID: 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

• Sequence:

  MIARQQCVRGGPRGFSCGSAIVGGGKRGAFSSVSMSGGAGRCSSGGFGSRSLYNLRGNKS
  ISMSVAGSRQGACFGGAGGFGTGGFGGGFGGSFSGKGGPGFPVCPAGGIQEVTINQSLLT
  PLHVEIDPEIQKVRTEEREQIKLLNNKFASFIDKVQFLEQQNKVLETKWNLLQQQTTTTS
  SKNLEPLFETYLSVLRKQLDTLGNDKGRLQSELKTMQDSVEDFKTKYEEEINKRTAAEND
  FVVLKKDVDAAYLNKVELEAKVDSLNDEINFLKVLYDAELSQMQTHVSDTSVVLSMDNNR
  NLDLDSIIAEVRAQYEEIAQRSKAEAEALYQTKVQQLQISVDQHGDNLKNTKSEIAELNR
  MIQRLRAEIENIKKQCQTLQVSVADAEQRGENALKDAHSKRVELEAALQQAKEELARMLR
  EYQELMSVKLALDIEIATYRKLLEGEEYRMSGECQSAVSISVVSGSTSTGGISGGLGSGS
  GFGLSSGFGSGSGSGFGFGGSVSGSSSSKIISTTTLNKRR

• Sequence length: 520

Pathways

Reactome:

Keratinization
Formation of the cornified envelope

Associated diseases

Causal
Disease name	Disease term	dbSNP ID	References
Dermatitis	Contact Dermatitis	rs61816761, rs150597413, rs138726443, rs201356558, rs149484917, rs372754256, rs747301529, rs567795279, rs745915174	25724174
White sponge nevus	WHITE SPONGE NEVUS 1, White sponge nevus	rs60440396, rs587776844, rs587776845, rs62642055, rs59897026	10652003, 12828738

Unknown
Disease name	Disease term	dbSNP ID	References
Leukokeratosis	Leukokeratosis, Hereditary Mucosal		23182699, 10652003, 12828738
Leukoplakia	Leukoplakia, Oral