Gene Gene information from NCBI Gene database.
Entrez ID 100132386
Gene name Keratin associated protein 4-9
Gene symbol KRTAP4-9
Synonyms (NCBI Gene)
KAP4.9
Chromosome 17
Chromosome location 17q21.2
miRNA miRNA information provided by mirtarbase database.
204
miRTarBase ID miRNA Experiments Reference
MIRT717042 hsa-miR-602 HITS-CLIP 19536157
MIRT717041 hsa-miR-1539 HITS-CLIP 19536157
MIRT717040 hsa-miR-3193 HITS-CLIP 19536157
MIRT717039 hsa-miR-3140-3p HITS-CLIP 19536157
MIRT717038 hsa-miR-3074-5p HITS-CLIP 19536157
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
6
GO ID Ontology Definition Evidence Reference
GO:0005829 Component Cytosol IEA
GO:0005829 Component Cytosol TAS
GO:0005882 Component Intermediate filament IEA
GO:0042633 Process Hair cycle IBA
GO:0042633 Process Hair cycle IDA 21916889
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
HGNC N/A HGNC
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9BYQ8
Protein name Keratin-associated protein 4-9 (Keratin-associated protein 4.9) (Ultrahigh sulfur keratin-associated protein 4.9)
Protein function In the hair cortex, hair keratin intermediate filaments are embedded in an interfilamentous matrix, consisting of hair keratin-associated proteins (KRTAP), which are essential for the formation of a rigid and resistant hair shaft through their e
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF01500 Keratin_B2 1 140 Keratin, high sulfur B2 protein Family
Tissue specificity TISSUE SPECIFICITY: Expressed in the hair follicles. {ECO:0000269|PubMed:15955084}.
Sequence
Sequence length 210
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  Reactome
    Keratinization
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
2
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)
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 Likely benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
STROKE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations