KRTAP9-4 (keratin associated protein 9-4)

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Gene Gene information from NCBI Gene database.
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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.
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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.
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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.
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MIM HGNC e!Ensembl
HGNC N/A HGNC
Protein Protein information from UniProt database.
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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 65 → 109 Keratin, high sulfur B2 protein Family
PF13885 Keratin_B2_2 28 → 69 Keratin, high sulfur B2 protein Family
PF13885 Keratin_B2_2 1 → 36 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.
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Reactome Pathway
Keratinization
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
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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 Reference Evidence Score
OLIGODENDROGLIOMA — GWAS catalog 36810956
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations

No strongly related genes found yet for KRTAP9-4.

No additional diseases found yet through genes similar to KRTAP9-4.