Gene Gene information from NCBI Gene database.
Entrez ID 163778
Gene name Small proline rich protein 4
Gene symbol SPRR4
Synonyms (NCBI Gene)
-
Chromosome 1
Chromosome location 1q21.3
miRNA miRNA information provided by mirtarbase database.
12
miRTarBase ID miRNA Experiments Reference
MIRT1386013 hsa-miR-1252 CLIP-seq
MIRT1386014 hsa-miR-3150b-3p CLIP-seq
MIRT1386015 hsa-miR-3185 CLIP-seq
MIRT1386016 hsa-miR-3192 CLIP-seq
MIRT1386017 hsa-miR-4434 CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
3
GO ID Ontology Definition Evidence Reference
GO:0005737 Component Cytoplasm IEA
GO:0005938 Component Cell cortex IEA
GO:0031424 Process Keratinization IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
616363 23173 ENSG00000184148
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q96PI1
Protein name Small proline-rich protein 4
Protein function Cross-linked envelope protein of keratinocytes. Involved in UV-induced cornification.
Family and domains
Sequence
MSSQQQQRQQQQCPPQRAQQQQVKQPCQPPPVKCQETCAPKTKDPCAPQVKKQCPPKGTI
IPAQQKCPSAQQASKSKQK
Sequence length 79
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
1
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
ATOPIC ECZEMA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations