Gene Gene information from NCBI Gene database.
Entrez ID 8896
Gene name BUD31 spliceosome associated protein
Gene symbol BUD31
Synonyms (NCBI Gene)
Cwc14EDG-2EDG2G10YCR063WfSAP17
Chromosome 7
Chromosome location 7q22.1
miRNA miRNA information provided by mirtarbase database.
55
miRTarBase ID miRNA Experiments Reference
MIRT020651 hsa-miR-155-5p Proteomics 18668040
MIRT029348 hsa-miR-26b-5p Microarray 19088304
MIRT441091 hsa-miR-218-5p HITS-CLIP 23212916
MIRT441091 hsa-miR-218-5p HITS-CLIP 23212916
MIRT827723 hsa-miR-2277-3p CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
19
GO ID Ontology Definition Evidence Reference
GO:0000398 Process MRNA splicing, via spliceosome IBA
GO:0000398 Process MRNA splicing, via spliceosome IDA 28076346
GO:0000785 Component Chromatin IDA 25091737
GO:0003713 Function Transcription coactivator activity IDA 25091737
GO:0005515 Function Protein binding IPI 25091737, 25416956, 32296183
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
603477 29629 ENSG00000106245
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P41223
Protein name Protein BUD31 homolog (Protein EDG-2) (Protein G10 homolog)
Protein function Involved in the pre-mRNA splicing process (PubMed:28076346, PubMed:28502770). May play a role as regulator of AR transcriptional activity; may increase AR transcriptional activity (PubMed:25091737). {ECO:0000269|PubMed:28076346, ECO:0000269|PubM
PDB 4OED , 4OH6 , 4OKB , 5MQF , 5XJC , 5YZG , 5Z56 , 5Z57 , 6FF4 , 6FF7 , 6ICZ , 6ID0 , 6ID1 , 6QDV , 6ZYM , 7AAV , 7ABF , 7ABG , 7ABI , 7QTT , 7W59 , 7W5A , 7W5B , 8C6J , 8CH6 , 8I0P , 8I0R , 8I0S , 8I0T , 8I0U , 8I0V , 8I0W , 8Q7N , 8QO9 , 8RO2 , 9FMD
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF01125 G10 1 144 G10 protein Domain
Tissue specificity TISSUE SPECIFICITY: Detected in epithelial and stromal cells in benign prostate hyperplasia tissue (at protein level). {ECO:0000269|PubMed:25091737}.
Sequence
Sequence length 144
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Spliceosome   mRNA Splicing - Major Pathway
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
NON-ALCOHOLIC FATTY LIVER DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS 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
Breast Carcinoma Breast Carcinoma BEFREE 18089805
★☆☆☆☆
Found in Text Mining only
Breast Neoplasms Breast neoplasm Pubtator 31278301 Associate
★☆☆☆☆
Found in Text Mining only
Carcinoma, Ovarian Epithelial Ovarian Epithelial carcinoma BEFREE 10537322
★☆☆☆☆
Found in Text Mining only
Charcot-Marie-Tooth Disease Charcot-Marie-Tooth Disease BEFREE 10384882
★☆☆☆☆
Found in Text Mining only
Cyanosis Cyanosis Pubtator 36867085 Associate
★☆☆☆☆
Found in Text Mining only
Degenerative polyarthritis Arthritis BEFREE 18325907, 18625619
★☆☆☆☆
Found in Text Mining only
Liver carcinoma Liver carcinoma BEFREE 29029500
★☆☆☆☆
Found in Text Mining only
Malignant neoplasm of ovary Ovarian cancer BEFREE 10537322
★☆☆☆☆
Found in Text Mining only
Malignant neoplasm of prostate Prostate cancer BEFREE 31057123
★☆☆☆☆
Found in Text Mining only
Malignant Neoplasms Malignant Neoplasm BEFREE 11291053, 31278301
★☆☆☆☆
Found in Text Mining only