Gene Gene information from NCBI Gene database.
Entrez ID 110806278
Gene name Small proline rich protein 5
Gene symbol SPRR5
Synonyms (NCBI Gene)
-
Chromosome 1
Chromosome location 1q21.3
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
1
GO ID Ontology Definition Evidence Reference
GO:0045618 Process Positive regulation of keratinocyte differentiation IMP 30622217
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.
A0A1B0GTR4
Protein name Small proline-rich protein 5
Protein function Positively regulates keratinocyte differentiation by inducing genes associated with epidermal differentiation.
Family and domains
Sequence
MSQQKQKQCAPPQQCCPPPQQRCPPPQQCCPPPQQCCPPPQQCCPPPQQCCPPPQQCCPP
PQQCCPPPQQYCPPPQQTKQPCQPPPKCQEPCAPKCPPPQQCQTSKQK
Sequence length 108
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
3
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
ASTHMA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ATOPIC ECZEMA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CHILDHOOD ONSET ASTHMA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations