KRT12 (keratin 12)

Gene
Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
3859
Gene name Gene Name - the full gene name approved by the HGNC.
Keratin 12
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
KRT12
Synonyms (NCBI Gene) Gene synonyms aliases
K12, MECD1
Chromosome Chromosome number
17
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
17q21.2
Summary Summary of gene provided in NCBI Entrez Gene.
KRT12 encodes the type I intermediate filament chain keratin 12, expressed in corneal epithelia. Mutations in this gene lead to Meesmann corneal dystrophy. [provided by RefSeq, Jul 2008]
miRNA miRNA information provided by mirtarbase database.
Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(14)
miRTarBase ID miRNA Experiments Reference
MIRT1101110 hsa-miR-4694-3p CLIP-seq
MIRT2027546 hsa-miR-134 CLIP-seq
MIRT2027547 hsa-miR-3118 CLIP-seq
MIRT2027548 hsa-miR-3136-5p CLIP-seq
MIRT2027549 hsa-miR-3164 CLIP-seq
Transcription factors
Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(2)
Transcription factor Regulation Reference
KLF6 Unknown 12407152
PAX6 Unknown 9856765
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(15)
GO ID Ontology Definition Evidence Reference
GO:0002009 Process Morphogenesis of an epithelium IBA
GO:0002009 Process Morphogenesis of an epithelium IMP 26758872
GO:0005198 Function Structural molecule activity IEA
GO:0005198 Function Structural molecule activity NAS 9171831
GO:0005829 Component Cytosol IEA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
601687 6414 ENSG00000187242
Protein
Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Q99456
Protein name Keratin, type I cytoskeletal 12 (Cytokeratin-12) (CK-12) (Keratin-12) (K12)
Protein function Involved in corneal epithelium organization, integrity and corneal keratin expression.
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00038 Filament 124 → 439 Intermediate filament protein Coiled-coil
Tissue specificity TISSUE SPECIFICITY: Expressed in the corneal epithelium (at protein level). {ECO:0000269|PubMed:26758872, ECO:0000269|PubMed:8759347}.
Sequence
Sequence length 494
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
  KEGG   Reactome
  Estrogen signaling pathway
Staphylococcus aureus infection 		  Keratinization
Formation of the cornified envelope
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (1)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Meesmann Corneal Dystrophy Corneal dystrophy, Meesmann, 1 rs886038212, rs57218384, rs58343600, rs58410481, rs58162394, rs58918655, rs28936695 N/A
Show/Hide Text Mining Associations (18)
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
AA amyloidosis Associate 32861330
Aniridia Associate 19558573
Blindness Associate 23222558
Choriocarcinoma Associate 16177192
Corneal dystrophy Avellino type Associate 21779668
Corneal Dystrophy Juvenile Epithelial of Meesmann Associate 10781519, 12084738, 15148206, 17653038, 20577595, 22174841, 23222558, 23233254, 23569037, 26788030, 9399908
Corneodermatoosseous syndrome Associate 9399908
Diabetes Mellitus Inhibit 28403359
Keratoconus Associate 36811882
Lymphoma Associate 16177192