Gene Gene information from NCBI Gene database.
Entrez ID 10695
Gene name Canopy FGF signaling regulator 3
Gene symbol CNPY3
Synonyms (NCBI Gene)
CAG4ADEE60EIEE60ERDA5PRAT4ATNRC5
Chromosome 6
Chromosome location 6p21.1
Summary This gene encodes a protein that binds members of the toll-like receptor protein family and functions as a chaperone to aid in folding and export of these proteins. Alternative splicing results in multiple transcript variants. Naturally occuring readthrou
miRNA miRNA information provided by mirtarbase database.
131
miRTarBase ID miRNA Experiments Reference
MIRT004231 hsa-miR-346 Microarray 16822819
MIRT029859 hsa-miR-26b-5p Microarray 19088304
MIRT031881 hsa-miR-16-5p Proteomics 18668040
MIRT901326 hsa-miR-1234 CLIP-seq
MIRT901327 hsa-miR-4722-3p CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
7
GO ID Ontology Definition Evidence Reference
GO:0002376 Process Immune system process IEA
GO:0005102 Function Signaling receptor binding IBA
GO:0005102 Function Signaling receptor binding IEA
GO:0005515 Function Protein binding IPI 28514442, 32296183, 32814053, 33961781
GO:0005783 Component Endoplasmic reticulum IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
610774 11968 ENSG00000137161
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9BT09
Protein name Protein canopy homolog 3 (CTG repeat protein 4a) (Expanded repeat-domain protein CAG/CTG 5) (Protein associated with TLR4) (Trinucleotide repeat-containing gene 5 protein)
Protein function Toll-like receptor (TLR)-specific co-chaperone for HSP90B1. Required for proper TLR folding, except that of TLR3, and hence controls TLR exit from the endoplasmic reticulum. Consequently, required for both innate and adaptive immune responses (B
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF11938 DUF3456 48 206 TLR4 regulator and MIR-interacting MSAP Family
Sequence
MDSMPEPASRCLLLLPLLLLLLLLLPAPELGPSQAGAEENDWVRLPSKCEVCKYVAVELK
SAFEETGKTKEVIGTGYGILDQKASGVKYTKSDLRLIEVTETICKRLLDYSLHKERTGSN
RFAKGMSETFETLHNLVHKGVKVVMDIPYELWNETSAEVADLKKQCDVLVEEFEEVIEDW
YRNHQEEDLTEFLCANHVLKGKDTSC
LAEQWSGKKGDTAALGGKKSKKKSSRAKAAGGRS
SSSKQRKELGGLEGDPSPEEDEGIQKASPLTHSPPDEL
Sequence length 278
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  Reactome
    Trafficking and processing of endosomal TLR
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)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Developmental and epileptic encephalopathy, 60 Pathogenic; Likely pathogenic rs2481078839, rs1554292759, rs1554123960, rs1554292820, rs1581718297, rs1768394971, rs1197219692 RCV003228772
RCV000615970
RCV000604665
RCV000610672
RCV000985216
View all (2 more)
★★★★★
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
CNPY3-related disorder Benign; Likely benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 60 Disgenet, HPO
Disgenet, HPO
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
WEST SYNDROME Disgenet
★★☆☆☆
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
Asthma, Aspirin-Induced Asthma BEFREE 26646719
★☆☆☆☆
Found in Text Mining only
Brain Diseases Brain disease Pubtator 35334124 Associate
★☆☆☆☆
Found in Text Mining only
Carcinogenesis Carcinogenesis Pubtator 40171811 Associate
★☆☆☆☆
Found in Text Mining only
Developmental regression Developmental regression HPO_DG
★☆☆☆☆
Found in Text Mining only
Epileptic encephalopathy Epileptic encephalopathy HPO_DG
★☆☆☆☆
Found in Text Mining only
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 60 Epileptic encephalopathy UNIPROT_DG 29394991
★☆☆☆☆
Found in Text Mining only
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 60 Epileptic encephalopathy GENOMICS_ENGLAND_DG 29394991
★☆☆☆☆
Found in Text Mining only
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 60 Epileptic encephalopathy CLINVAR_DG
★☆☆☆☆
Found in Text Mining only
Glioma Glioma Pubtator 40171811 Associate
★☆☆☆☆
Found in Text Mining only
Hypoxia Hypoxia Pubtator 29180379 Associate
★☆☆☆☆
Found in Text Mining only