Gene Gene information from NCBI Gene database.
Entrez ID 56342
Gene name Peter pan homolog
Gene symbol PPAN
Synonyms (NCBI Gene)
BXDC3SSFSSF-1SSF1SSF2
Chromosome 19
Chromosome location 19p13.2
Summary The protein encoded by this gene is an evolutionarily conserved protein similar to yeast SSF1 as well as to the gene product of the Drosophila gene peter pan (ppan). SSF1 is known to be involved in the second step of mRNA splicing. Both SSF1 and ppan are
miRNA miRNA information provided by mirtarbase database.
42
miRTarBase ID miRNA Experiments Reference
MIRT022241 hsa-miR-124-3p Proteomics;Microarray 18668037
MIRT027452 hsa-miR-98-5p Microarray 19088304
MIRT031381 hsa-miR-16-5p Proteomics 18668040
MIRT050514 hsa-miR-20a-5p CLASH 23622248
MIRT049693 hsa-miR-92a-3p CLASH 23622248
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
9
GO ID Ontology Definition Evidence Reference
GO:0000463 Process Maturation of LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) IBA
GO:0003723 Function RNA binding HDA 22658674, 22681889
GO:0005634 Component Nucleus IDA 15302935
GO:0005634 Component Nucleus IEA
GO:0005730 Component Nucleolus IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
607793 9227 ENSG00000130810
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
2
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
Cataplexy and narcolepsy association ClinVar
Disgenet
★★★☆☆
Reported in Unknown/Other Associations (≥2 sources)
NARCOLEPSY-CATAPLEXY SYNDROME GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations