SPRR3 (small proline rich protein 3)

Gene Gene information from NCBI Gene database.
Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID 6707
Gene name Small proline rich protein 3
Gene symbol SPRR3
Synonyms (NCBI Gene)
-
Chromosome 1
Chromosome location 1q21.3
miRNA miRNA information provided by mirtarbase database.
8
Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (8)
miRTarBase ID miRNA Experiments Reference
MIRT017086 hsa-miR-335-5p Microarray 18185580
MIRT1386006 hsa-miR-2278 CLIP-seq
MIRT1386007 hsa-miR-3126-5p CLIP-seq
MIRT1386008 hsa-miR-4261 CLIP-seq
MIRT1386009 hsa-miR-4419a CLIP-seq
Transcription factors Transcription factors information provided by TRRUST V2 database.
3
Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
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Transcription factor Regulation Reference
ELF3 Unknown 9889002
FOS Unknown 9889002
JUN Unknown 9889002
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
12
Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
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GO ID Ontology Definition Evidence Reference
GO:0001533 Component Cornified envelope TAS
GO:0005198 Function Structural molecule activity TAS 9889002
GO:0005515 Function Protein binding IPI 10510474, 28514442, 33961781
GO:0005737 Component Cytoplasm IEA
GO:0005794 Component Golgi apparatus IDA 19211270
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
182271 11268 ENSG00000163209
Protein Protein information from UniProt database.
Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9UBC9
Protein name Small proline-rich protein 3 (22 kDa pancornulin) (Cornifin beta) (Esophagin)
Protein function Cross-linked envelope protein of keratinocytes.
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF02389 Cornifin 17 → 89 Disordered
PF02389 Cornifin 67 → 167 Disordered
Sequence 
MSSYQQKQTFTPPPQLQQQQVKQPSQPPPQEIFVPTTKEPCHSKVPQPGNTKIPEPGCTK
VPEPGCTKVPEPGCTKVPEPGCTKVPEPGCTKVPEPGCTKVPEPGYTKVPEPGSIKVPDQ
GFIKFPEPGAIKVPEQGYTKVPVPGYTKLPEPCPSTVTPGPAQQKTKQK
Sequence length 169
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
  Reactome
    Formation of the cornified envelope
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
3
Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways 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 (3)
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
INFLAMMATORY SKIN DISEASE — GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
PSORIASIS — GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Show/Hide Text Mining Associations (36)
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Adenocarcinoma Adenocarcinoma BEFREE 15833844
★★★★★
★☆☆☆☆
Found in Text Mining only
Barrett Epithelium Barrett Epithelium BEFREE 15833844
★★★★★
★☆☆☆☆
Found in Text Mining only
Carcinogenesis Carcinogenesis Pubtator 20379613 Stimulate
★★★★★
★☆☆☆☆
Found in Text Mining only
Carcinoma Carcinoma BEFREE 11133802
★★★★★
★☆☆☆☆
Found in Text Mining only
Colorectal Neoplasms Colorectal neoplasm Pubtator 20379613 Stimulate
★★★★★
★☆☆☆☆
Found in Text Mining only
Dermatitis Allergic Contact Allergic contact dermatitis Pubtator 35028126 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Dermatitis Atopic Atopic dermatitis Pubtator 21753762 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Dermatitis Atopic Atopic dermatitis Pubtator 27304082 Inhibit
★★★★★
★☆☆☆☆
Found in Text Mining only
Dermatitis, Atopic Dermatitis BEFREE 21753762, 25131691, 27304082
★★★★★
★☆☆☆☆
Found in Text Mining only
Dermatologic disorders Dermatologic Disorders BEFREE 9008234
★★★★★
★☆☆☆☆
Found in Text Mining only