KRT25 (keratin 25)

Gene Gene information from NCBI Gene database.
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID 147183
Gene name Keratin 25
Gene symbol KRT25
Synonyms (NCBI Gene)
ARWH3KRT24IRS1KRT25A
Chromosome 17
Chromosome location 17q21.2
Summary This gene encodes a member of the type I (acidic) keratin family, which belongs to the superfamily of intermediate filament (IF) proteins. Keratins are heteropolymeric structural proteins which form the intermediate filament. These filaments, along with a
SNPs SNP information provided by dbSNP.
2
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (2)
SNP ID Visualize variation Clinical significance Consequence
rs766783183 A>G Pathogenic Coding sequence variant, missense variant
rs879253749 C>A Pathogenic Missense variant, coding sequence variant
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
21
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (21)
GO ID Ontology Definition Evidence Reference
GO:0002009 Process Morphogenesis of an epithelium IBA
GO:0005198 Function Structural molecule activity IEA
GO:0005515 Function Protein binding IPI 32296183
GO:0005737 Component Cytoplasm IEA
GO:0005829 Component Cytosol IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
616646 30839 ENSG00000204897
Protein Protein information from UniProt database.
Gene SNPs 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.
Q7Z3Z0
Protein name Keratin, type I cytoskeletal 25 (Cytokeratin-25) (CK-25) (Keratin-25) (K25) (Keratin-25A) (K25A) (Type I inner root sheath-specific keratin-K25irs1)
Protein function Essential for the proper assembly of type I and type II keratin protein complexes and formation of keratin intermediate filaments in the inner root sheath (irs) (By similarity). Plays a role in the cytoskeleton organization (PubMed:26902920). {E
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00038 Filament 78 → 393 Intermediate filament protein Coiled-coil
Tissue specificity TISSUE SPECIFICITY: Strongly expressed in skin and scalp, and weak expression observed in thymus and tongue. In the hair follicle, expressed in Henle layer, Huxley layer and in the inner root sheath cuticle of the hair follicle. Expression extends from th
Sequence
Sequence length 450
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
  KEGG  Reactome
  Estrogen signaling pathway
Staphylococcus aureus infection 		  Keratinization
Formation of the cornified envelope
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
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Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (3)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Autosomal Recessive Hypotrichosis with Woolly Hair Pathogenic rs879253749 RCV000234939
Hypotrichosis 8 Pathogenic rs766783183 RCV000201248
Wooly hair, autosomal recessive 3 Pathogenic rs766783183, rs879253749 RCV000203575
RCV000490551
Show/Hide Unknown Diseases (2)
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Gastric cancer Likely benign rs150885868 RCV005926653
KRT25-related disorder Benign; Likely benign rs141255550, rs139726500, rs141965826, rs139223285 RCV003943778
RCV004757587
RCV003929269
RCV003895557
Show/Hide Text Mining Associations (4)
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Hair Diseases Associate 26160856
Hypotrichosis Associate 26902920
Periodontitis Associate 37466550
Woolly hair congenital Associate 26160856