KRT78 (keratin 78)

Gene Gene information from NCBI Gene database.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID 196374
Gene name Keratin 78
Gene symbol KRT78
Synonyms (NCBI Gene)
CK-78K5BK78Kb40
Chromosome 12
Chromosome location 12q13.13
Summary This gene is a member of the type II keratin gene family and encodes a protein with an intermediate filament domain. Keratins are the major structural proteins in epithelial cells, forming a cytoplasmic network of 10 to 12 nm wide intermediate filaments a
miRNA miRNA information provided by mirtarbase database.
50
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (50)
miRTarBase ID miRNA Experiments Reference
MIRT441914 hsa-miR-4426 PAR-CLIP 22100165
MIRT441915 hsa-miR-4647 PAR-CLIP 22100165
MIRT441913 hsa-miR-4662b PAR-CLIP 22100165
MIRT441912 hsa-miR-4712-3p PAR-CLIP 22100165
MIRT441911 hsa-miR-6814-5p PAR-CLIP 22100165
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
11
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (11)
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 32296183
GO:0005615 Component Extracellular space HDA 22664934
GO:0005829 Component Cytosol IEA
GO:0005829 Component Cytosol TAS
GO:0005882 Component Intermediate filament IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
611159 28926 ENSG00000170423
Protein Protein information from UniProt database.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q8N1N4
Protein name Keratin, type II cytoskeletal 78 (Cytokeratin-78) (CK-78) (Keratin-5b) (Keratin-78) (K78) (Type-II keratin Kb40)
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF16208 Keratin_2_head 47 → 107 Keratin type II head Family
PF00038 Filament 110 → 423 Intermediate filament protein Coiled-coil
Tissue specificity TISSUE SPECIFICITY: In non-keratinising esophageal and vaginal epithelium, strongly expressed in the basal and parabasal/lower suprabasal cell layers with considerably decreased expression in the mid/upper suprabasal layers (at protein level) (PubMed:2634
Sequence
Sequence length 520
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
  Reactome
    Keratinization
Formation of the cornified envelope
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
3
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
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 Unknown Diseases (3)
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.
Phenotype Name Clinical Significance Source Evidence Score
EBV-positive nodal T- and NK-cell lymphoma Uncertain significance ClinVar
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
PROSTATE CANCER — GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
PROSTATE CARCINOMA — GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Show/Hide Text Mining Associations (4)
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Melanoma Melanoma Pubtator 29377892 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Pulmonary Disease Chronic Obstructive Chronic obstructive pulmonary disease Pubtator 36899372 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck Squamous cell carcinoma Pubtator 37092360 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck Squamous cell carcinoma Pubtator 39596132 Inhibit
★★★★★
★☆☆☆☆
Found in Text Mining only