KRTAP9-4 (keratin associated protein 9-4)

Gene Gene information from NCBI Gene database.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID 85280
Gene name Keratin associated protein 9-4
Gene symbol KRTAP9-4
Synonyms (NCBI Gene)
KAP9.4KRTAP9.4
Chromosome 17
Chromosome location 17q21.2
Summary This protein is a member of the keratin-associated protein (KAP) family. The KAP proteins form a matrix of keratin intermediate filaments which contribute to the structure of hair fibers. KAP family members appear to have unique, family-specific amino- an
miRNA miRNA information provided by mirtarbase database.
13
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (13)
miRTarBase ID miRNA Experiments Reference
MIRT2027827 hsa-miR-1185 CLIP-seq
MIRT2027828 hsa-miR-1193 CLIP-seq
MIRT2027829 hsa-miR-1294 CLIP-seq
MIRT2027830 hsa-miR-147 CLIP-seq
MIRT2027831 hsa-miR-2117 CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
5
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
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GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 25416956, 29892012
GO:0005829 Component Cytosol IEA
GO:0005829 Component Cytosol TAS
GO:0005882 Component Intermediate filament IEA
GO:0045095 Component Keratin 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
HGNC N/A HGNC
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.
Q9BYQ2
Protein name Keratin-associated protein 9-4 (Keratin-associated protein 9.4) (Ultrahigh sulfur keratin-associated protein 9.4)
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
PF13885 Keratin_B2_2 1 → 36 Keratin, high sulfur B2 protein Family
PF13885 Keratin_B2_2 28 → 69 Keratin, high sulfur B2 protein Family
PF13885 Keratin_B2_2 65 → 109 Keratin, high sulfur B2 protein Family
PF13885 Keratin_B2_2 108 → 154 Keratin, high sulfur B2 protein Family
Sequence 
MTHCCSPCCQPTCCRTTCCRTTCWKPTTVTTCSSTPCCQPSCCVSSCCQPCCRPTCCQNT
CCQPTCVTSCCQPSCCSTPCCQPTCCGSSCDQSSSCAPVYCRRTCYYPTTVCLPGCLNQS
CGSNCCQPCCRPACCETTCFQPTCVSSCCQPFCC
Sequence length 154
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
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
1
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 (1)
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
OLIGODENDROGLIOMA — GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations