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Aliases for SNRPB Gene

Aliases for SNRPB Gene

  • Small Nuclear Ribonucleoprotein Polypeptides B And B1 2 3 5
  • Sm Protein B/B 3 4
  • SnRNP-B 3 4
  • SNRPB1 3 4
  • Sm-B/B 3 4
  • SmB/B 3 4
  • COD 3 4
  • Small Nuclear Ribonucleoprotein-Associated Proteins B And B 3
  • Small Nuclear Ribonucleoprotein Polypeptides B And B 3
  • Small Nuclear Ribonucleoprotein Polypeptide B 3
  • B Polypeptide Of Sm Protein 3
  • Sm-B/Sm-B 3
  • SmB/SmB 3
  • CCMS 3

External Ids for SNRPB Gene

Previous HGNC Symbols for SNRPB Gene

  • SNRPB1

Previous GeneCards Identifiers for SNRPB Gene

  • GC20M002430
  • GC20M002390
  • GC20M002437
  • GC20M002442
  • GC20M002392

Summaries for SNRPB Gene

Entrez Gene Summary for SNRPB Gene

  • 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 role in pre-mRNA splicing or snRNP structure. Autoantibodies from patients with systemic lupus erythematosus frequently recognize epitopes on the encoded protein. Two transcript variants encoding different isoforms (B and B') have been found for this gene. [provided by RefSeq, Jul 2008]

GeneCards Summary for SNRPB Gene

SNRPB (Small Nuclear Ribonucleoprotein Polypeptides B And B1) is a Protein Coding gene. Diseases associated with SNRPB include Cerebrocostomandibular Syndrome and Lupus Erythematosus. Among its related pathways are Transport of the SLBP independent Mature mRNA and Processing of Capped Intronless Pre-mRNA. GO annotations related to this gene include poly(A) RNA binding and histone pre-mRNA DCP binding. An important paralog of this gene is SNRPN.

UniProtKB/Swiss-Prot for SNRPB Gene

  • Core component of the spliceosomal U1, U2, U4 and U5 small nuclear ribonucleoproteins (snRNPs), the building blocks of the spliceosome. Thereby, plays an important role in the splicing of cellular pre-mRNAs. Most spliceosomal snRNPs contain a common set of Sm proteins SNRPB, SNRPD1, SNRPD2, SNRPD3, SNRPE, SNRPF and SNRPG that assemble in a heptameric protein ring on the Sm site of the small nuclear RNA to form the core snRNP. As part of the U7 snRNP it is involved in histone 3-end processing.

Gene Wiki entry for SNRPB Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SNRPB Gene

Genomics for SNRPB Gene

Regulatory Elements for SNRPB Gene

Enhancers for SNRPB Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH20F002507 0.6 ENCODE 12 -37.9 -37918 2.6 PKNOX1 ATF1 CREB3L1 WRNIP1 ARID4B SIN3A DMAP1 ZNF48 ZNF2 ETS1 ZNF343 SNRPB TMC2 MIR1292 NOP56 SNORD56 SNORD57 ENSG00000228293 IDH3B ENSG00000256566
GH20F002468 0.4 ENCODE 9.6 +0.8 815 3.5 HDGF PKNOX1 ARNT CREB3L1 MLX WRNIP1 ZFP64 ARID4B SIN3A DMAP1 ZNF343 VPS16 ITPA SNRPB GC20M002464 SNORD119
GH20F002473 0.8 ENCODE 8.3 -3.1 -3083 0.8 CTCF MAX ZNF384 RAD21 ZEB1 SMC3 FOS ZNF654 ZNF362 BHLHE40 SNRPB GC20M002474
GH20F001948 1 Ensembl ENCODE 5.5 +518.5 518453 8.0 EBF1 ZIC2 YY1 ZNF664 ZNF366 HNF4G PRDM10 ETV6 FOS MAFK SNRPB LOC727993 GC20P001953
GH20F003092 1.3 FANTOM5 Ensembl ENCODE 5.4 -622.8 -622808 2.5 CEBPG THRB RARA SCRT2 ZNF207 ZNF600 SCRT1 GATAD2A KLF6 HLF SNRPB PCED1A UBOX5 FASTKD5 PTPRA AVP RN7SL555P
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around SNRPB on UCSC Golden Path with GeneCards custom track

Promoters for SNRPB Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000007921 553 2201 HDGF PKNOX1 ARNT CREB3L1 MLX WRNIP1 ZFP64 ARID4B SIN3A DMAP1

Genomic Location for SNRPB Gene

Chromosome:
20
Start:
2,461,634 bp from pter
End:
2,470,853 bp from pter
Size:
9,220 bases
Orientation:
Minus strand

Genomic View for SNRPB Gene

Genes around SNRPB on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SNRPB Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SNRPB Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SNRPB Gene

Proteins for SNRPB Gene

  • Protein details for SNRPB Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P14678-RSMB_HUMAN
    Recommended name:
    Small nuclear ribonucleoprotein-associated proteins B and B
    Protein Accession:
    P14678
    Secondary Accessions:
    • Q15490
    • Q6IB35
    • Q9UIS5

    Protein attributes for SNRPB Gene

    Size:
    240 amino acids
    Molecular mass:
    24610 Da
    Quaternary structure:
    • U1 snRNP is for instance composed of the 7 core Sm proteins SNRPB, SNRPD1, SNRPD2, SNRPD3, SNRPE, SNRPF and SNRPG that assemble in a heptameric protein ring on the Sm site of the small nuclear RNA to form the core snRNP, and at least three U1 snRNP-specific proteins SNRNP70/U1-70K, SNRPA/U1-A and SNRPC/U1-C. Component of the U11/U12 snRNPs that are part of the U12-type spliceosome. Component of the heptameric ring U7 snRNP complex, or U7 Sm protein core complex, at least composed of LSM10, LSM11, SNRPB, SNRPD3, SNRPE, SNRPF, SNRPG and U7 snRNA. Part of the SMN-Sm complex that contains SMN1, GEMIN2/SIP1, DDX20/GEMIN3, GEMIN4, GEMIN5, GEMIN6, GEMIN7, GEMIN8, STRAP/UNRIP and the Sm proteins SNRPB, SNRPD1, SNRPD2, SNRPD3, SNRPE, SNRPF and SNRPG; catalyzes core snRNPs assembly. Forms a 6S pICln-Sm complex composed of CLNS1A/pICln, SNRPD1, SNRPD2, SNRPE, SNRPF and SNRPG; ring-like structure where CLNS1A/pICln mimics additional Sm proteins and which is unable to assemble into the core snRNP. Identified in a histone pre-mRNA complex, at least composed of ERI1, LSM11, SLBP, SNRPB, SYNCRIP and YBX1. Interacts with TDRD3 and SNUPN.
    Miscellaneous:
    • Patients with the autoimmune disease systemic lupus erythematosus (SLE) have autoantibodies directed against some of the individual snRNP polypeptides. The most common autoantigen is called Sm. B/b bear Sm epitopes.
    SequenceCaution:
    • Sequence=AAD54488.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for SNRPB Gene

    Alternative splice isoforms for SNRPB Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for SNRPB Gene

Post-translational modifications for SNRPB Gene

  • Methylated. Arg-108 and Arg-112 are dimethylated, probably to asymmetric dimethylarginine.
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for SNRPB Gene

No data available for DME Specific Peptides for SNRPB Gene

Domains & Families for SNRPB Gene

Graphical View of Domain Structure for InterPro Entry

P14678

UniProtKB/Swiss-Prot:

RSMB_HUMAN :
  • Belongs to the snRNP SmB/SmN family.
Family:
  • Belongs to the snRNP SmB/SmN family.
genes like me logo Genes that share domains with SNRPB: view

No data available for Gene Families for SNRPB Gene

Function for SNRPB Gene

Molecular function for SNRPB Gene

GENATLAS Biochemistry:
small nuclear ribonucleoprotein,polypeptides B and B1
UniProtKB/Swiss-Prot Function:
Core component of the spliceosomal U1, U2, U4 and U5 small nuclear ribonucleoproteins (snRNPs), the building blocks of the spliceosome. Thereby, plays an important role in the splicing of cellular pre-mRNAs. Most spliceosomal snRNPs contain a common set of Sm proteins SNRPB, SNRPD1, SNRPD2, SNRPD3, SNRPE, SNRPF and SNRPG that assemble in a heptameric protein ring on the Sm site of the small nuclear RNA to form the core snRNP. As part of the U7 snRNP it is involved in histone 3-end processing.

Gene Ontology (GO) - Molecular Function for SNRPB Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003723 RNA binding IEA --
GO:0005515 protein binding IPI 8076607
GO:0030620 U2 snRNA binding IPI 18082603
GO:0044822 poly(A) RNA binding IDA 22681889
GO:0070034 telomerase RNA binding IPI 18082603
genes like me logo Genes that share ontologies with SNRPB: view
genes like me logo Genes that share phenotypes with SNRPB: view

Human Phenotype Ontology for SNRPB Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for SNRPB

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets and HOMER Transcription for SNRPB Gene

Localization for SNRPB Gene

Subcellular locations from UniProtKB/Swiss-Prot for SNRPB Gene

Cytoplasm, cytosol. Nucleus. Note=SMN-mediated assembly into core snRNPs occurs in the cytosol before SMN-mediated transport to the nucleus to be included in spliceosomes.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for SNRPB Gene COMPARTMENTS Subcellular localization image for SNRPB gene
Compartment Confidence
cytosol 5
extracellular 5
nucleus 5

Gene Ontology (GO) - Cellular Components for SNRPB Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
GO:0005654 nucleoplasm TAS --
GO:0005681 spliceosomal complex IEA,TAS 2531083
GO:0005682 U5 snRNP IBA --
GO:0005683 U7 snRNP IDA 11574479
genes like me logo Genes that share ontologies with SNRPB: view

Pathways & Interactions for SNRPB Gene

genes like me logo Genes that share pathways with SNRPB: view

Pathways by source for SNRPB Gene

Gene Ontology (GO) - Biological Process for SNRPB Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000387 spliceosomal snRNP assembly TAS --
GO:0000398 mRNA splicing, via spliceosome IC,TAS --
GO:0006369 termination of RNA polymerase II transcription TAS --
GO:0006397 mRNA processing IEA --
GO:0006479 protein methylation IDA 18495660
genes like me logo Genes that share ontologies with SNRPB: view

No data available for SIGNOR curated interactions for SNRPB Gene

Transcripts for SNRPB Gene

mRNA/cDNA for SNRPB Gene

Unigene Clusters for SNRPB Gene

Small nuclear ribonucleoprotein polypeptides B and B1:
Representative Sequences:

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for SNRPB

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for SNRPB Gene

ExUns: 1a · 1b · 1c ^ 2 ^ 3a · 3b · 3c ^ 4 ^ 5a · 5b ^ 6a · 6b ^ 7a · 7b · 7c ^ 8 ^ 9a · 9b · 9c ^ 10 ^ 11a · 11b
SP1: - - - - - - - -
SP2: - - - - - - - - -
SP3: - - - - - - - -
SP4: - - -
SP5: - - - - - -
SP6: - - - - - -
SP7: - - -
SP8: - - -
SP9:
SP10: - - -
SP11:
SP12:

Relevant External Links for SNRPB Gene

GeneLoc Exon Structure for
SNRPB
ECgene alternative splicing isoforms for
SNRPB

Expression for SNRPB Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for SNRPB Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for SNRPB Gene

This gene is overexpressed in Lung (17.7), Tlymphocyte (12.9), and Monocytes (9.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for SNRPB Gene



NURSA nuclear receptor signaling pathways regulating expression of SNRPB Gene:

SNRPB

SOURCE GeneReport for Unigene cluster for SNRPB Gene:

Hs.83753
genes like me logo Genes that share expression patterns with SNRPB: view

Primer Products

No data available for mRNA differential expression in normal tissues , Protein tissue co-expression partners and mRNA Expression by UniProt/SwissProt for SNRPB Gene

Orthologs for SNRPB Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for SNRPB Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia SNRPB 34 35
  • 99.86 (n)
dog
(Canis familiaris)
Mammalia -- 35
  • 99 (a)
OneToMany
SNRPB 34
  • 91.67 (n)
-- 35
  • 85 (a)
OneToMany
cow
(Bos Taurus)
Mammalia SNRPB 34 35
  • 92.78 (n)
mouse
(Mus musculus)
Mammalia Snrpb 34 16 35
  • 91.85 (n)
rat
(Rattus norvegicus)
Mammalia Snrpb 34
  • 90.68 (n)
chicken
(Gallus gallus)
Aves SNRB 35
  • 49 (a)
OneToMany
lizard
(Anolis carolinensis)
Reptilia -- 35
  • 96 (a)
OneToMany
African clawed frog
(Xenopus laevis)
Amphibia snrpn-prov 34
zebrafish
(Danio rerio)
Actinopterygii snrpb 35
  • 95 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta SmB 36 35
  • 70 (a)
worm
(Caenorhabditis elegans)
Secernentea snr-2 35
  • 58 (a)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes SMB1 35
  • 30 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.8195 35
  • 66 (a)
OneToMany
Species where no ortholog for SNRPB was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • oppossum (Monodelphis domestica)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)

Evolution for SNRPB Gene

ENSEMBL:
Gene Tree for SNRPB (if available)
TreeFam:
Gene Tree for SNRPB (if available)

Paralogs for SNRPB Gene

Paralogs for SNRPB Gene

(3) SIMAP similar genes for SNRPB Gene using alignment to 7 proteins:

Pseudogenes.org Pseudogenes for SNRPB Gene

genes like me logo Genes that share paralogs with SNRPB: view

Variants for SNRPB Gene

Sequence variations from dbSNP and Humsavar for SNRPB Gene

SNP ID Clin Chr 20 pos Sequence Context AA Info Type
VAR_073380 Cerebrocostomandibular syndrome (CCMS) [MIM:117650]
VAR_073381 Cerebrocostomandibular syndrome (CCMS) [MIM:117650]
VAR_073382 Cerebrocostomandibular syndrome (CCMS) [MIM:117650]
VAR_073383 Cerebrocostomandibular syndrome (CCMS) [MIM:117650]
rs786201019 Pathogenic 2,467,306(-) GTGAG(C/G)GGGGA intron-variant

Structural Variations from Database of Genomic Variants (DGV) for SNRPB Gene

Variant ID Type Subtype PubMed ID
esv2758778 CNV gain 17122850
esv3644998 CNV gain 21293372
nsv470535 CNV gain 18288195

Variation tolerance for SNRPB Gene

Residual Variation Intolerance Score: 26.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.61; 13.06% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for SNRPB Gene

Human Gene Mutation Database (HGMD)
SNRPB
SNPedia medical, phenotypic, and genealogical associations of SNPs for
SNRPB

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SNRPB Gene

Disorders for SNRPB Gene

MalaCards: The human disease database

(9) MalaCards diseases for SNRPB Gene - From: OMIM, ClinVar, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
cerebrocostomandibular syndrome
  • cerebro-costo-mandibular syndrome
lupus erythematosus
  • lupus
systemic lupus erythematosus
  • lupus nephritis
intracranial structure hemangioma
  • angioma of intracranial structure
brain angioma
  • brain hemangioma
- elite association - COSMIC cancer census association via MalaCards
Search SNRPB in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

RSMB_HUMAN
  • Cerebrocostomandibular syndrome (CCMS) [MIM:117650]: A syndrome characterized by severe micrognathia, rib defects ranging from a few dorsal rib segments to complete absence of ossification, and mental retardation. {ECO:0000269 PubMed:25047197, ECO:0000269 PubMed:25504470}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for SNRPB

Genetic Association Database (GAD)
SNRPB
Human Genome Epidemiology (HuGE) Navigator
SNRPB
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
SNRPB
genes like me logo Genes that share disorders with SNRPB: view

No data available for Genatlas for SNRPB Gene

Publications for SNRPB Gene

  1. Mutations in SNRPB, encoding components of the core splicing machinery, cause cerebro-costo-mandibular syndrome. (PMID: 25504470) Bacrot S. … Cormier-Daire V. (Hum. Mutat. 2015) 3 4 64
  2. Disrupted auto-regulation of the spliceosomal gene SNRPB causes cerebro-costo-mandibular syndrome. (PMID: 25047197) Lynch D.C. … Bernier F.P. (Nat Commun 2014) 3 4 64
  3. Structure of the spliceosomal U4 snRNP core domain and its implication for snRNP biogenesis. (PMID: 21516107) Leung A.K. … Li J. (Nature 2011) 3 4 64
  4. Common variants associated with breast cancer in genome-wide association studies are modifiers of breast cancer risk in BRCA1 and BRCA2 mutation carriers. (PMID: 20418484) Wang X. … Couch F.J. (Hum. Mol. Genet. 2010) 3 46 64
  5. An assembly chaperone collaborates with the SMN complex to generate spliceosomal SnRNPs. (PMID: 18984161) Chari A. … Fischer U. (Cell 2008) 3 4 64

Products for SNRPB Gene

Sources for SNRPB Gene

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