KRT3 (keratin 3)

Gene
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
3850
Gene name Gene Name - the full gene name approved by the HGNC.
Keratin 3
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
KRT3
Synonyms (NCBI Gene) Gene synonyms aliases
CK3, K3, MECD2
Disease Acronyms (UniProt) Disease acronyms from UniProt database
MECD2
Chromosome Chromosome number
12
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
12q13.13
Summary Summary of gene provided in NCBI Entrez Gene.
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 information provided by dbSNP.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
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
miRNA miRNA information provided by mirtarbase database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(1)
miRTarBase ID miRNA Experiments Reference
MIRT044922 hsa-miR-186-5p CLASH 23622248
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(9)
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 32296183
GO:0005829 Component Cytosol TAS
GO:0005882 Component Intermediate filament NAS 9171831
GO:0030855 Process Epithelial cell differentiation ISS
GO:0031424 Process Keratinization TAS
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
148043 6440 ENSG00000186442
Protein
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID 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
Sequence length 628
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
  Reactome
    Keratinization
Formation of the cornified envelope
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (2)
Causal
Disease term Disease name dbSNP ID References
Corneal dystrophy Corneal dystrophy rs121909212, rs121909214, rs760714959, rs766305306, rs1554579819, rs1554579832, rs1554579878
Meesmann corneal dystrophy Meesmann corneal dystrophy rs57218384, rs58343600, rs58410481, rs58162394, rs58918655, rs28936695, rs57872071, rs267607431, rs60410063, rs886038212
Show/Hide Unknown Diseases (2)
Unknown
Disease term Disease name Evidence References Source
Corneal Dystrophy corneal dystrophy, Meesmann, 1, corneal dystrophy, Meesmann, 2 GenCC
Meesmann Corneal Dystrophy Meesmann corneal dystrophy GenCC
Show/Hide Text Mining Associations (9)
Associations from Text Mining
Disease Name Relationship Type References
Aniridia Associate 19558573, 40334825
Corneal dystrophy Avellino type Associate 21779668
Corneal Dystrophy Juvenile Epithelial of Meesmann Associate 12084738, 18806880, 23569037, 26788030, 33346999, 9399908
Corneodermatoosseous syndrome Associate 9399908
Inflammation Associate 40334825
Leukemia Myeloid Acute Associate 30480765
Optic Disk Drusen Associate 39865650
Sarcoma Kaposi Associate 18806880
Urinary Bladder Neoplasms Associate 12778082