Gene Gene information from NCBI Gene database.
Entrez ID 6628
Gene name Small nuclear ribonucleoprotein polypeptides B and B1
Gene symbol SNRPB
Synonyms (NCBI Gene) CCMS, COD, SNRPB1, Sm-B/B', SmB/B', SmB/SmB', snRNP-B
Chromosome 20
Chromosome location 20p13
Summary The protein encoded by this gene is one of several nuclear proteins that are found in common among U1, U2, U4/U6, and U5 small ribonucleoprotein particles (snRNPs). These snRNPs are involved in pre-mRNA splicing, and the encoded protein may also play a ro
SNPs SNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs786201019 C>A,G,T Pathogenic Intron variant
rs786201020 C>A,G Pathogenic Intron variant
rs786201021 G>T Pathogenic Intron variant
rs786201022 G>T Pathogenic 5 prime UTR variant
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT022383 hsa-miR-124-3p Proteomics;Microarray 18668037
MIRT045972 hsa-miR-125b-5p CLASH 23622248
MIRT044720 hsa-miR-320a CLASH 23622248
MIRT041541 hsa-miR-193b-3p CLASH 23622248
MIRT508961 hsa-miR-4428 PAR-CLIP 20371350
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
GO ID Ontology Definition Evidence Reference
GO:0000387 Process Spliceosomal snRNP assembly IDA 18984161
GO:0000398 Process MRNA splicing, via spliceosome IBA
GO:0000398 Process MRNA splicing, via spliceosome IC 11991638
GO:0000398 Process MRNA splicing, via spliceosome IDA 28076346, 28781166, 32494006, 36797247
GO:0000398 Process MRNA splicing, via spliceosome NAS 15564372, 30975767, 31744343, 33677607
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
182282 11153 ENSG00000125835
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P14678
Protein name Small nuclear ribonucleoprotein-associated proteins B and B' (snRNP-B) (Sm protein B/B') (Sm-B/B') (SmB/B')
Protein function Plays a role in pre-mRNA splicing as a core component of the spliceosomal U1, U2, U4 and U5 small nuclear ribonucleoproteins (snRNPs), the building blocks of the spliceosome (PubMed:11991638, PubMed:18984161, PubMed:19325628, PubMed:25555158, Pu
PDB 1D3B , 3CW1 , 3JCR , 3PGW , 4PJO , 4WZJ , 5MQF , 5O9Z , 5XJC , 5YZG , 5Z56 , 5Z57 , 5Z58 , 6AH0 , 6FF7 , 6ICZ , 6ID0 , 6ID1 , 6QDV , 6QW6 , 6QX9 , 6V4X , 6Y53 , 6Y5Q , 7A5P , 7ABG , 7ABI , 7DVQ , 7EVO , 7QTT , 7VPX , 7W59 , 7W5A , 7W5B , 8C6J , 8CH6 , 8H6E , 8H6J , 8H6K , 8H6L , 8HK1 , 8I0P , 8I0R , 8I0S , 8I0T , 8I0U , 8I0V , 8I0W , 8Q7Q , 8Q7V , 8Q7W
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF01423 LSM 7 82 LSM domain Domain
Sequence
MTVGKSSKMLQHIDYRMRCILQDGRIFIGTFKAFDKHMNLILCDCDEFRKIKPKNSKQAE
REEKRVLGLVLLRGENLVSMTV
EGPPPKDTGIARVPLAGAAGGPGIGRAAGRGIPAGVPM
PQAPAGLAGPVRGVGGPSQQVMTPQGRGTVAAAAAAATASIAGAPTQYPPGRGGPPPPMG
RGAPPPGMMGPPPGMRPPMGPPMGIPPGRGTPMGMPPPGMRPPPPGMRGPPPPGMRPPRP
Sequence length 240
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG   Reactome
  Spliceosome
Systemic lupus erythematosus
  SLBP independent Processing of Histone Pre-mRNAs
snRNP Assembly
mRNA Splicing - Major Pathway
mRNA Splicing - Minor Pathway
RNA Polymerase II Transcription Termination
SLBP Dependent Processing of Replication-Dependent Histone Pre-mRNAs
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Associated diseases Disease associations categorized as Causal, Unknown, or Literature-based
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Cerebrocostomandibular Syndrome Cerebro-costo-mandibular syndrome rs786201021, rs786201022, rs786201019, rs786201020 N/A
Unknown ClinVar non-pathogenic, GenCC, GWAS & CBGDA associations
Disease merge term Disease name Evidence References Source
Hepatocellular Carcinoma Hepatocellular carcinoma Overlapping CRISPR screens and HCC expression microarray data, we found 13 clinically relevant targets that are essential for HCC tumor cell growth and were significantly up-regulated in HCC tumors 31022357 CBGDA
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Adenocarcinoma Associate 22876301
Breast Neoplasms Associate 20418484
Carcinoma Hepatocellular Associate 33289700, 38189879
Carcinoma Renal Cell Associate 35617983
Cardiomyopathies Associate 32631246
Esophageal Neoplasms Associate 39287291
Glioblastoma Associate 27287018
Lung Neoplasms Associate 22876301
Mandibular Injuries Associate 25047197
Muscular Atrophy Spinal Associate 11720283