Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
9119
Gene name Gene Name - the full gene name approved by the HGNC.
Keratin 75
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
KRT75
Synonyms (NCBI Gene) Gene synonyms aliases
CK-75, K6HF, K75, KB18, PFB, hK6hf
Disease Acronyms (UniProt) Disease acronyms from UniProt database
PFB
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.
This gene is a member of the type II keratin family clustered on the long arm of chromosome 12. Type I and type II keratins heteropolymerize to form intermediate-sized filaments in the cytoplasm of epithelial cells. This gene is expressed in the companion
SNPs SNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs2232387 C>T Not-provided, risk-factor Coding sequence variant, missense variant
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT023996 hsa-miR-1-3p Proteomics;Microarray 18668037
MIRT1101482 hsa-miR-1321 CLIP-seq
MIRT1101483 hsa-miR-3689d CLIP-seq
MIRT1101484 hsa-miR-4419a CLIP-seq
MIRT1101485 hsa-miR-4510 CLIP-seq
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0002244 Process Hematopoietic progenitor cell differentiation IEA
GO:0005198 Function Structural molecule activity TAS 9856802
GO:0005515 Function Protein binding IPI 32296183
GO:0005829 Component Cytosol TAS
GO:0005882 Component Intermediate filament IDA 15086549
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
609025 24431 ENSG00000170454
Protein
UniProt ID O95678
Protein name Keratin, type II cytoskeletal 75 (Cytokeratin-75) (CK-75) (Keratin-6 hair follicle) (hK6hf) (Keratin-75) (K75) (Type II keratin-K6hf) (Type-II keratin Kb18)
Protein function Plays a central role in hair and nail formation. Essential component of keratin intermediate filaments in the companion layer of the hair follicle.
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF16208 Keratin_2_head 16 145 Keratin type II head Family
PF00038 Filament 148 461 Intermediate filament protein Coiled-coil
Tissue specificity TISSUE SPECIFICITY: Highly expressed in hair follicles from scalp. Specifically expressed in the of the hair companion layer follicle, a single layered band of flat and vertically oriented cells between the cuboidal outer root sheath (ORS) cells and the i
Sequence
Sequence length 551
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  Reactome
    Keratinization
Formation of the cornified envelope