Gene Gene information from NCBI Gene database.
Entrez ID 285311
Gene name PRR23 family member E
Gene symbol PRR23E
Synonyms (NCBI Gene)
C3orf56
Chromosome 3
Chromosome location 3q21.3
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
1
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 32296183
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
HGNC N/A HGNC
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q8N813
Protein name Proline-rich protein 23E
Family and domains
Sequence
MGTGASEKQAEQKVRRAFEASEEAHGTLAASTPWVAMGSAYGSCTCLGAQPVTDLALWPV
IYSCMGFSPQAYPAFWAYPWVLYGGYLWMGYPPPAALVPSVWLYWRGASSFDPLIGSPYL
AALAPNLFPFPMKFPPTYSLASPTLGGATSSHCPQVGCWTPASSAPRAAVEGPSRGAPYL
KTCKAPPSEWASRFGIWAPLPCCSSELRPLPPSPIEDSQLDPGCSRSSSRSPCRARRRLF
EC
Sequence length 242
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
SPORADIC AMYOTROPHIC LATERAL SCLEROSIS GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations