Gene Gene information from NCBI Gene database.
Entrez ID 6706
Gene name Small proline rich protein 2G
Gene symbol SPRR2G
Synonyms (NCBI Gene)
-
Chromosome 1
Chromosome location 1q21.3
miRNA miRNA information provided by mirtarbase database.
9
miRTarBase ID miRNA Experiments Reference
MIRT018908 hsa-miR-335-5p Microarray 18185580
MIRT1385998 hsa-miR-2110 CLIP-seq
MIRT1385999 hsa-miR-218 CLIP-seq
MIRT1386000 hsa-miR-3150a-3p CLIP-seq
MIRT1386001 hsa-miR-3175 CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
8
GO ID Ontology Definition Evidence Reference
GO:0001533 Component Cornified envelope IEA
GO:0001533 Component Cornified envelope NAS 8325635
GO:0001533 Component Cornified envelope TAS
GO:0005737 Component Cytoplasm IEA
GO:0005829 Component Cytosol TAS
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
617590 11267 ENSG00000159516
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9BYE4
Protein name Small proline-rich protein 2G (SPR-2G)
Protein function Cross-linked envelope protein of keratinocytes. It is a keratinocyte protein that first appears in the cell cytosol, but ultimately becomes cross-linked to membrane proteins by transglutaminase. All that results in the formation of an insoluble
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF14820 SPRR2 2 70 Small proline-rich 2 Family
Sequence
Sequence length 73
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  Reactome
    Formation of the cornified envelope
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
4
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
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
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Squamous Cell Carcinoma of Head and Neck Squamous cell carcinoma Pubtator 34693597 Associate
★☆☆☆☆
Found in Text Mining only