SNRPB (small nuclear ribonucleoprotein polypeptides B and B1)

2014-11-01  

Identity

HGNC
LOCATION
20p13
LOCUSID
ALIAS
CCMS,COD,SNRPB1,Sm-B/B,SmB/B,SmB/SmB,snRNP-B
FUSION GENES

Other Information

Locus ID:

NCBI: 6628
MIM: 182282
HGNC: 11153
Ensembl: ENSG00000125835

Variants:

dbSNP: 6628
ClinVar: 6628
TCGA: ENSG00000125835
COSMIC: SNRPB

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000125835ENST00000381342P14678
ENSG00000125835ENST00000381342Q66K91
ENSG00000125835ENST00000438552P14678
ENSG00000125835ENST00000474384S4R3P3

Expression (GTEx)

0
50
100
150
200
250
300
350
400
450

Pathways

PathwaySourceExternal ID
Systemic lupus erythematosusKEGGko05322
Systemic lupus erythematosusKEGGhsa05322
SpliceosomeKEGGko03040
SpliceosomeKEGGhsa03040
Spliceosome, U1-snRNPKEGGhsa_M00351
Spliceosome, U2-snRNPKEGGhsa_M00352
Spliceosome, 35S U5-snRNPKEGGhsa_M00355
Spliceosome, U4/U6.U5 tri-snRNPKEGGhsa_M00354
Sm core complexKEGGhsa_M00398
Spliceosome, U1-snRNPKEGGM00351
Spliceosome, U2-snRNPKEGGM00352
Spliceosome, U4/U6.U5 tri-snRNPKEGGM00354
Spliceosome, 35S U5-snRNPKEGGM00355
Sm core complexKEGGM00398
Gene ExpressionREACTOMER-HSA-74160
RNA Polymerase II TranscriptionREACTOMER-HSA-73857
RNA Polymerase II Transcription TerminationREACTOMER-HSA-73856
Cleavage of Growing Transcript in the Termination RegionREACTOMER-HSA-109688
Processing of Capped Intron-Containing Pre-mRNAREACTOMER-HSA-72203
mRNA SplicingREACTOMER-HSA-72172
mRNA Splicing - Major PathwayREACTOMER-HSA-72163
mRNA Splicing - Minor PathwayREACTOMER-HSA-72165
Processing of Capped Intronless Pre-mRNAREACTOMER-HSA-75067
SLBP Dependent Processing of Replication-Dependent Histone Pre-mRNAsREACTOMER-HSA-77588
SLBP independent Processing of Histone Pre-mRNAsREACTOMER-HSA-111367
Metabolism of non-coding RNAREACTOMER-HSA-194441
snRNP AssemblyREACTOMER-HSA-191859

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
204184842010Common variants associated with breast cancer in genome-wide association studies are modifiers of breast cancer risk in BRCA1 and BRCA2 mutation carriers.28
199977412010Coilin phosphorylation mediates interaction with SMN and SmB'.23
272870182016Functional genomics analyses of RNA-binding proteins reveal the splicing regulator SNRPB as an oncogenic candidate in glioblastoma.22
250471972014Disrupted auto-regulation of the spliceosomal gene SNRPB causes cerebro-costo-mandibular syndrome.13
105563131999Concerted regulation and molecular evolution of the duplicated SNRPB'/B and SNRPN loci.8
255044702015Mutations in SNRPB, encoding components of the core splicing machinery, cause cerebro-costo-mandibular syndrome.8
243577172014Time-resolved quantitative proteomics implicates the core snRNP protein SmB together with SMN in neural trafficking.6
269718862016Cerebro-costo-mandibular syndrome: Clinical, radiological, and genetic findings.3

Citation

Dessen P

SNRPB (small nuclear ribonucleoprotein polypeptides B and B1)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/74034/snrpb