KRTAP19-4 (keratin associated protein 19-4)

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Gene Gene information from NCBI Gene database.
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Entrez ID 337971
Gene name Keratin associated protein 19-4
Gene symbol KRTAP19-4
Synonyms (NCBI Gene)
KAP19.4
Chromosome 21
Chromosome location 21q22.11
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
4
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GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 32296183
GO:0005829 Component Cytosol IEA
GO:0005829 Component Cytosol TAS
GO:0005882 Component Intermediate 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.
Q3LI73
Protein name Keratin-associated protein 19-4
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
PF11759 KRTAP 1 → 57 Keratin-associated matrix Family
Sequence 
MSYYGSYYRGLGYGCGGFGGLGYGYGCGCGSFRRLGYGCGFGGNGYGYCRPSCYGGYGFS
ILLKSYPEDTISEVIRRSFNLTKY
Sequence length 84
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.).
1
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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
URINARY BLADDER CANCER — GWAS catalog 34353775
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations

No strongly related genes found yet for KRTAP19-4.

No additional diseases found yet through genes similar to KRTAP19-4.