Gene Gene information from NCBI Gene database.
Entrez ID 10286
Gene name BCAS2 pre-mRNA processing factor
Gene symbol BCAS2
Synonyms (NCBI Gene)
DAM1SPF27Snt309
Chromosome 1
Chromosome location 1p13.2
miRNA miRNA information provided by mirtarbase database.
274
miRTarBase ID miRNA Experiments Reference
MIRT031526 hsa-miR-16-5p Proteomics 18668040
MIRT722403 hsa-miR-2052 HITS-CLIP 19536157
MIRT722404 hsa-miR-19a-5p HITS-CLIP 19536157
MIRT722402 hsa-miR-19b-1-5p HITS-CLIP 19536157
MIRT722401 hsa-miR-19b-2-5p HITS-CLIP 19536157
Transcription factors Transcription factors information provided by TRRUST V2 database.
1
Transcription factor Regulation Reference
ESRRB Unknown 24667650
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
27
GO ID Ontology Definition Evidence Reference
GO:0000375 Process RNA splicing, via transesterification reactions TAS 9731529
GO:0000380 Process Alternative mRNA splicing, via spliceosome IEA
GO:0000398 Process MRNA splicing, via spliceosome IDA 28076346
GO:0000398 Process MRNA splicing, via spliceosome NAS 23742842
GO:0000974 Component Prp19 complex IBA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
605783 975 ENSG00000116752
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
O75934
Protein name Pre-mRNA-splicing factor SPF27 (Breast carcinoma-amplified sequence 2) (DNA amplified in mammary carcinoma 1 protein) (Spliceosome-associated protein SPF 27)
Protein function Required for pre-mRNA splicing as component of the activated spliceosome (PubMed:28076346, PubMed:28502770, PubMed:29301961, PubMed:29360106, PubMed:30705154). Component of the PRP19-CDC5L complex that forms an integral part of the spliceosome a
PDB 5MQF , 5XJC , 5YZG , 5Z56 , 5Z57 , 6FF7 , 6ICZ , 6ID0 , 6ID1 , 6QDV , 7A5P , 7W59 , 7W5A , 7W5B , 8C6J , 8CH6 , 8I0T , 8I0U , 8I0V , 8I0W , 8RO2 , 9FMD
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF05700 BCAS2 11 216 Breast carcinoma amplified sequence 2 (BCAS2) Family
Tissue specificity TISSUE SPECIFICITY: Ubiquitously expressed. {ECO:0000269|PubMed:10403562}.
Sequence
Sequence length 225
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
AUTISM GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
LYMPHOMA, LARGE B-CELL, DIFFUSE CTD
★★☆☆☆
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
Autistic Disorder Autism BEFREE 24189344
★☆☆☆☆
Found in Text Mining only
Breast Carcinoma Breast Carcinoma BEFREE 10403562, 12169396, 19903847, 24667650, 28128212, 30813351
★☆☆☆☆
Found in Text Mining only
Breast Neoplasms Breast neoplasm Pubtator 24667650, 30813351, 35705040 Associate
★☆☆☆☆
Found in Text Mining only
Colorectal Carcinoma Colorectal Cancer UNIPROT_DG
★☆☆☆☆
Found in Text Mining only
Diffuse Large B-Cell Lymphoma Diffuse Lymphoma CTD_human_DG 27356265
★☆☆☆☆
Found in Text Mining only
Esophageal carcinoma Esophageal Carcinoma BEFREE 29115564
★☆☆☆☆
Found in Text Mining only
Esophageal Neoplasms Esophagus Neoplasm BEFREE 29115564
★☆☆☆☆
Found in Text Mining only
Esophageal Neoplasms Esophageal neoplasm Pubtator 29115564 Associate
★☆☆☆☆
Found in Text Mining only
Malignant neoplasm of breast Breast Cancer BEFREE 10403562, 12169396, 19903847, 24667650, 28128212, 30813351
★☆☆☆☆
Found in Text Mining only
Malignant neoplasm of esophagus Esophagus Neoplasm BEFREE 29115564
★☆☆☆☆
Found in Text Mining only