KRT83 (keratin 83)

Gene
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
3889
Gene name Gene Name - the full gene name approved by the HGNC.
Keratin 83
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
KRT83
Synonyms (NCBI Gene) Gene synonyms aliases
EKVP5, HB3, Hb-3, KRTHB3, MNLIX, MNLIX3
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. As a type II hair keratin, it is a basic protein which heterodimerizes with type I keratins to form hair and nails. The type II hair keratins are clustered in a region of chromosome
SNPs SNP information provided by dbSNP.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(4)
SNP ID Visualize variation Clinical significance Consequence
rs57802288 C>A,T Not-provided, likely-pathogenic Missense variant, stop gained, coding sequence variant
rs753293188 T>- Pathogenic Frameshift variant, coding sequence variant
rs786205480 A>C Likely-pathogenic Missense variant, coding sequence variant
rs1438087533 C>T Pathogenic 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(4)
miRTarBase ID miRNA Experiments Reference
MIRT2027680 hsa-miR-138 CLIP-seq
MIRT2027681 hsa-miR-4456 CLIP-seq
MIRT2027682 hsa-miR-541 CLIP-seq
MIRT2027683 hsa-miR-654-5p CLIP-seq
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(12)
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 25416956, 29892012, 32296183
GO:0005615 Component Extracellular space HDA 23580065
GO:0005829 Component Cytosol IEA
GO:0005829 Component Cytosol TAS
GO:0005882 Component Intermediate filament IEA
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
602765 6460 ENSG00000170523
Protein
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID P78385
Protein name Keratin, type II cuticular Hb3 (Hair keratin K2.10) (Keratin-83) (K83) (Type II hair keratin Hb3) (Type-II keratin Kb23)
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF16208 Keratin_2_head 3 → 107 Keratin type II head Family
PF00038 Filament 110 → 421 Intermediate filament protein Coiled-coil
Tissue specificity TISSUE SPECIFICITY: Synthesis begins in the cortex 10-15 cell layers above the apex of the dermal papilla and ends abruptly in the middle of the cortex. {ECO:0000269|PubMed:9084137}.
Sequence
Sequence length 493
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
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene SNPs miRNA 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
Erythrokeratoderma Erythrokeratodermia variabilis et progressiva 5 rs753293188 N/A
Show/Hide Unknown Diseases (1)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Erythrokeratodermia Variabilis erythrokeratodermia variabilis N/A N/A GenCC
Show/Hide Text Mining Associations (8)
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Alopecia Areata Associate 35983595
Colorectal Neoplasms Associate 19960375
Glioma Associate 27655710
Lung Diseases Associate 28777004
Monilethrix Associate 16575393, 35146972
Multiple Sclerosis Stimulate 24615106
Neuromyelitis Optica Associate 24615106
Urinary Bladder Neoplasms Associate 21483740