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

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	3850
Gene name	Keratin 3
Gene symbol	KRT3
Synonyms (NCBI Gene)	CK3K3MECD2
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

Show/Hide all (3)

SNP ID	Visualize variation	Clinical significance	Consequence
rs57872071	C>T	Not-provided, pathogenic	Missense variant, coding sequence variant
rs60410063	C>A,G,T	Not-provided, pathogenic	Missense variant, coding sequence variant
rs267607431	T>A	Pathogenic, not-provided	Missense variant, coding sequence variant

Show/Hide all (1)

miRTarBase ID	miRNA	Experiments	Reference
MIRT044922	hsa-miR-186-5p	CLASH	23622248

Show/Hide all (14)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	32296183
GO:0005829	Component	Cytosol	IEA
GO:0005829	Component	Cytosol	TAS
GO:0005882	Component	Intermediate filament	IEA
GO:0005882	Component	Intermediate filament	NAS	9171831
GO:0030280	Function	Structural constituent of skin epidermis	IBA
GO:0030855	Process	Epithelial cell differentiation	ISS
GO:0031424	Process	Keratinization	IBA
GO:0045095	Component	Keratin filament	IBA
GO:0045095	Component	Keratin filament	IEA
GO:0045095	Component	Keratin filament	TAS	9171831
GO:0045104	Process	Intermediate filament cytoskeleton organization	IMP	9171831
GO:0045109	Process	Intermediate filament organization	IBA
GO:0070062	Component	Extracellular exosome	HDA	23533145

MIM	HGNC	e!Ensembl
148043	6440	ENSG00000186442

P12035

Protein name

Keratin, type II cytoskeletal 3 (65 kDa cytokeratin) (Cytokeratin-3) (CK-3) (Keratin-3) (K3) (Type-II keratin Kb3)

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF16208	Keratin_2_head	15 → 194	Keratin type II head	Family
PF00038	Filament	197 → 512	Intermediate filament protein	Coiled-coil

Tissue specificity

TISSUE SPECIFICITY: Cornea specific.

Sequence

MSRQASKTSGGGSQGFSGRSAVVSGSSRMSCVAHSGGAGGGAYGFRSGAGGFGSRSLYNL
GGNKSISISVAAGGSRAGGFGGGRSSCAFAGGYGGGFGSGYGGGFGGGFGGGRGMGGGFG
GAGGFGGAGGFGGAGGFGGPGGFGGSGGFGGPGSLGSPGGFGPGGFPGGIQEVTINQSLL
QPLNVEIDPQIGQVKAQEREQIKTLNNKFASFIDKVRFLEQQNKVLETKWNLLQQQGTSS
ISGTNNLEPLFENHINYLRSYLDNILGERGRLDSELKNMEDLVEDFKKKYEDEINKRTAA
ENEFVTLKKDVDSAYMNKVELQAKVDALIDEIDFLRTLYDAELSQMQSHISDTSVVLSMD
NNRSLDLDSIIAEVRAQYEDIAQRSKAEAEALYQTKLGELQTTAGRHGDDLRNTKSEIIE
LNRMIQRLRAEIEGVKKQNANLQTAIAEAEQHGEMALKDANAKLQELQAALQQAKDDLAR
LLRDYQELMNVKLALDVEIATYRKLLEGEEYRMSGECPSAVSISVVSSSTTSASAGGYGG
GYGGGMGGGLGGGFSAGGGSGSGFGRGGGGGIGGGFGGGSSGFSGGSGFGSISGARYGVS
GGGFSSASNRGGSIKFSQSSQSSQRYSR

Sequence length

628

Interactions

View interactions

	Reactome
			Keratinization Formation of the cornified envelope

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Causal Diseases (1)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Corneal dystrophy, Meesmann, 2	Likely pathogenic; Pathogenic	rs2121217835, rs2498757244, rs57872071, rs267607431, rs60410063	RCV001591798 RCV003389583 RCV000015738 RCV000118979 RCV000118978	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Show/Hide Unknown Diseases (7)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Congenital hereditary endothelial dystrophy of cornea	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CORNEAL DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CORNEAL DYSTROPHY, JUVENILE EPITHELIAL OF MEESMANN	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CORNEAL DYSTROPHY, MEESMANN, 1	—	Disgenet, GWAS catalog Disgenet, GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CORNEAL ENDOTHELIAL DYSTROPHY 2	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
KRT3-related disorder	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
POLYCYSTIC OVARY SYNDROME	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (21)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Aniridia	Aniridia	Pubtator	19558573, 40334825	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Corneal dystrophy	Corneal Dystrophy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Corneal dystrophy Avellino type	Corneal dystrophy	Pubtator	21779668	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Corneal Dystrophy Juvenile Epithelial of Meesmann	Corneal dystrophy	Pubtator	12084738, 18806880, 23569037, 26788030, 33346999, 9399908	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Corneal Dystrophy, Juvenile Epithelial of Meesmann	Corneal Dystrophy, Epithelial Of Meesmann	BEFREE	12084738, 15148206, 16227835, 23569037, 26758872, 26788030, 9399908		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Corneal Dystrophy, Juvenile Epithelial of Meesmann	Corneal Dystrophy, Epithelial Of Meesmann	UNIPROT_DG	16227835, 9171831		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Corneal Dystrophy, Juvenile Epithelial of Meesmann	Corneal Dystrophy, Epithelial Of Meesmann	GENOMICS_ENGLAND_DG	16227835		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Corneal Dystrophy, Juvenile Epithelial of Meesmann	Corneal Dystrophy, Epithelial Of Meesmann	ORPHANET_DG	9171831		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Corneal Dystrophy, Juvenile Epithelial of Meesmann	Corneal Dystrophy, Epithelial Of Meesmann	CTD_human_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Corneal Neovascularization	Corneal Neovascularization	BEFREE	31208228		★★★★★ ★☆☆☆☆ Found in Text Mining only
Excessive tearing	Excessive Tearing	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Granulomatosis with polyangiitis	Granulomatosis With Polyangiitis	BEFREE	10440272		★★★★★ ★☆☆☆☆ Found in Text Mining only
Keratoconus	Keratoconus	BEFREE	16083875		★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid Acute	Myeloid leukemia	Pubtator	30480765	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Macular dystrophy, corneal type 1	Macular corneal dystrophy	BEFREE	16227835		★★★★★ ★☆☆☆☆ Found in Text Mining only
Meesmann corneal dystrophy	Meesmann Corneal Dystrophy	Orphanet			★★★★★ ★☆☆☆☆ Found in Text Mining only
Pauci-immune Glomerulonephritis associated with Granulomatosis with Polyangiitis	Granulomatosis with polyangiitis	BEFREE	10440272		★★★★★ ★☆☆☆☆ Found in Text Mining only
Polycystic Ovary Syndrome	Polycystic Ovary Syndrome	CTD_human_DG	21411543		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma Kaposi	Sarcoma	Pubtator	18806880	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Sclerocystic Ovaries	Sclerocystic Ovaries	CTD_human_DG	21411543		★★★★★ ★☆☆☆☆ Found in Text Mining only
Urinary Bladder Neoplasms	Urinary bladder neoplasms	Pubtator	12778082	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only

KRT3 (keratin 3)