SCYGR5 (small cysteine and glycine repeat containing 5)

Gene Gene information from NCBI Gene database.
Gene Gene ontology Other IDs Protein Associated diseases
Entrez ID 112441437
Gene name Small cysteine and glycine repeat containing 5
Gene symbol SCYGR5
Synonyms (NCBI Gene)
KRTAP28-5
Chromosome 2
Chromosome location 2q36.3
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
1
Gene Gene ontology Other IDs Protein Associated diseases
Show/Hide all (1)
GO ID Ontology Definition Evidence Reference
GO:0005882 Component Intermediate filament IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
HGNC N/A HGNC
Protein Protein information from UniProt database.
Gene Gene ontology Other IDs Protein Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
A0A286YF46
Protein name Small cysteine and glycine repeat-containing protein 5 (Keratin-associated protein 28-5)
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
Sequence 
MGCCGCGGCGGCGGGCGGGCGSCTTCRCYRVGCCSSCCPCCRGCCGGCCSTPVICCCRRT
CCSCGCGCGKGCCQQKGCCQKQCCC
Sequence length 85
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
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Gene Gene ontology Other IDs Protein 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 (4)
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
CENTRAL NERVOUS SYSTEM CANCER — GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
GLIOBLASTOMA MULTIFORME — GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
GLIOMA — GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
NEPHROTIC SYNDROME — GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations