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 recogni... See more...

Aliases for SNRPB Gene

Aliases for SNRPB Gene

  • Small Nuclear Ribonucleoprotein Polypeptides B And B1 2 3 5
  • Small Nuclear Ribonucleoprotein-Associated Proteins B And B' 3 4
  • Sm Protein B/B' 3 4
  • Sm-B/B' 3 4
  • SnRNP-B 3 4
  • SNRPB1 3 4
  • SmB/B' 3 4
  • COD 3 4
  • 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 Gene Expression. Gene Ontology (GO) annotations related to this gene include histone pre-mRNA DCP binding. An important paralog of this gene is SNRPN.

UniProtKB/Swiss-Prot Summary for SNRPB Gene

  • Plays role in pre-mRNA splicing as core component of the SMN-Sm complex that mediates spliceosomal snRNP assembly and as 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, PubMed:26912367, PubMed:28502770, PubMed:28781166, PubMed:28076346). Component of both the pre-catalytic spliceosome B complex and activated spliceosome C complexes (PubMed:11991638, PubMed:28502770, PubMed:28781166, PubMed:28076346). Is also a component of the minor U12 spliceosome (PubMed:15146077). As part of the U7 snRNP it is involved in histone pre-mRNA 3'-end processing (PubMed:12975319).

Gene Wiki entry for SNRPB Gene

Additional gene information for SNRPB Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for SNRPB Gene

Genomics for SNRPB Gene

GeneHancer (GH) Regulatory Elements for SNRPB Gene

Promoters and enhancers for SNRPB Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around SNRPB on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for SNRPB

Top Transcription factor binding sites by QIAGEN in the SNRPB gene promoter:
  • COUP
  • COUP-TF
  • COUP-TF1
  • SRF
  • SRF (504 AA)

Genomic Locations for SNRPB Gene

Genomic Locations for SNRPB Gene
chr20:2,461,634-2,470,853
(GRCh38/hg38)
Size:
9,220 bases
Orientation:
Minus strand
chr20:2,442,280-2,451,499
(GRCh37/hg19)
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:
    • Core component of the spliceosomal U1, U2, U4 and U5 small nuclear ribonucleoproteins (snRNPs), the building blocks of the spliceosome (PubMed:11991638, PubMed:10025403, PubMed:19325628, PubMed:21516107, PubMed:25555158, PubMed:26912367, PubMed:28502770, PubMed:28781166, PubMed:28076346). 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 (PubMed:10025403, PubMed:19325628, PubMed:21516107, PubMed:25555158, PubMed:26912367, PubMed:28502770, PubMed:28781166, PubMed:28076346). Component of the U1 snRNP (PubMed:19325628, PubMed:25555158). The U1 snRNP is composed of the U1 snRNA and the 7 core Sm proteins SNRPB, SNRPD1, SNRPD2, SNRPD3, SNRPE, SNRPF and SNRPG, and at least three U1 snRNP-specific proteins SNRNP70/U1-70K, SNRPA/U1-A and SNRPC/U1-C (PubMed:19325628, PubMed:25555158). Component of the U4/U6-U5 tri-snRNP complex composed of the U4, U6 and U5 snRNAs and at least PRPF3, PRPF4, PRPF6, PRPF8, PRPF31, SNRNP200, TXNL4A, SNRNP40, SNRPB, SNRPD1, SNRPD2, SNRPD3, SNRPE, SNRPF, SNRPG, DDX23, CD2BP2, PPIH, SNU13, EFTUD2, SART1 and USP39, plus LSM2, LSM3, LSM4, LSM5, LSM6, LSM7 and LSM8 (PubMed:26912367). Component of the U7 snRNP complex, or U7 Sm protein core complex, that is composed of the U7 snRNA and at least LSM10, LSM11, SNRPB, SNRPD3, SNRPE, SNRPF and SNRPG; the complex does not contain SNRPD1 and SNRPD2 (PubMed:11574479, PubMed:12975319). Component of the U11/U12 snRNPs that are part of the U12-type spliceosome (PubMed:15146077). 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 (PubMed:12095920, PubMed:18984161). 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 (PubMed:18984161). Identified in a histone pre-mRNA complex, at least composed of ERI1, LSM11, SLBP, SNRPB, SYNCRIP and YBX1 (By similarity). Interacts with TDRD3 and SNUPN (PubMed:12095920, PubMed:15955813). Interacts with PRMT5; interaction leads to its symmetric arginine dimethylation (By similarity). Interacts with TDRD6; interaction promotes assiociation with PRMT5 (By similarity).
    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 by PRMT5 (By similarity). Arg-108 and Arg-112 are dimethylated, probably to asymmetric dimethylarginine (PubMed:16087681, Ref.10).
  • 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

Gene Families for SNRPB Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Plasma proteins
  • Predicted intracellular proteins

Protein Domains for SNRPB Gene

Blocks:
  • Small nuclear ribonucleoprotein (Sm protein)
  • Like-Sm ribonucleoprotein-related, core
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for SNRPB Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ56740, highly similar to Small nuclear ribonucleoprotein-associatedproteins B and B' (B4DVS0_HUMAN)
  • SNRPB protein (Q15182_HUMAN)
  • cDNA, FLJ93004, Homo sapiens small nuclear ribonucleoprotein polypeptides B and B1 (SNRPB), mRNA (Q66K91_HUMAN)
  • Small nuclear ribonucleoprotein B' (Q9UIS4_HUMAN)
  • Sm protein B/B' (RSMB_HUMAN)

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

Function for SNRPB Gene

Molecular function for SNRPB Gene

UniProtKB/Swiss-Prot Function:
Plays role in pre-mRNA splicing as core component of the SMN-Sm complex that mediates spliceosomal snRNP assembly and as 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, PubMed:26912367, PubMed:28502770, PubMed:28781166, PubMed:28076346). Component of both the pre-catalytic spliceosome B complex and activated spliceosome C complexes (PubMed:11991638, PubMed:28502770, PubMed:28781166, PubMed:28076346). Is also a component of the minor U12 spliceosome (PubMed:15146077). As part of the U7 snRNP it is involved in histone pre-mRNA 3'-end processing (PubMed:12975319).
GENATLAS Biochemistry:
small nuclear ribonucleoprotein,polypeptides B and B1

Phenotypes From GWAS Catalog for SNRPB Gene

Gene Ontology (GO) - Molecular Function for SNRPB Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003723 RNA binding IPI 18082603
GO:0005515 protein binding IPI 8076607
GO:0070034 telomerase RNA binding IPI 18082603
GO:0071208 histone pre-mRNA DCP binding IEA --
GO:1990446 U1 snRNP binding IEA --
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

CRISPR Products

Clone Products

  • Addgene plasmids for SNRPB

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. {ECO:0000305}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for SNRPB gene
Compartment Confidence
nucleus 5
cytosol 5
plasma membrane 1
extracellular 1
cytoskeleton 1
mitochondrion 1
endosome 1
lysosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for SNRPB Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA,IDA 28076346
GO:0005654 nucleoplasm TAS --
GO:0005681 spliceosomal complex TAS 2531083
GO:0005682 U5 snRNP IBA 21873635
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 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

Drugs & Compounds for SNRPB Gene

No Compound Related Data Available

Transcripts for SNRPB Gene

mRNA/cDNA for SNRPB Gene

2 REFSEQ mRNAs :
16 NCBI additional mRNA sequence :
3 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Clone Products

  • Addgene plasmids for SNRPB

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

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, MaxQB, and MOPED for SNRPB Gene



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for SNRPB

SOURCE GeneReport for Unigene cluster for SNRPB Gene:

Hs.83753

Evidence on tissue expression from TISSUES for SNRPB Gene

  • Skin(4.7)
  • Nervous system(4.7)
  • Lung(4.5)
  • Eye(4)
  • Pancreas(4)
  • Blood(3.7)
  • Intestine(3.6)
  • Liver(3.6)
  • Kidney(3.4)
  • Muscle(2.3)
  • Stomach(2.3)
  • Heart(2.1)

Phenotype-based relationships between genes and organs from Gene ORGANizer for SNRPB Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • integumentary
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
  • urinary
Regions:
Head and neck:
  • brain
  • chin
  • ear
  • eye
  • eyelid
  • face
  • head
  • inner ear
  • jaw
  • larynx
  • lip
  • mandible
  • maxilla
  • middle ear
  • mouth
  • neck
  • nose
  • outer ear
  • pharynx
  • skull
  • tongue
  • tooth
  • vocal cord
Thorax:
  • chest wall
  • clavicle
  • heart
  • lung
  • rib
  • rib cage
  • scapula
  • sternum
  • trachea
Abdomen:
  • kidney
Pelvis:
  • pelvis
  • placenta
  • uterus
Limb:
  • arm
  • digit
  • elbow
  • femur
  • finger
  • foot
  • hand
  • hip
  • humerus
  • lower limb
  • shoulder
  • thigh
  • upper limb
General:
  • blood vessel
  • skin
  • spinal column
  • vertebrae
genes like me logo Genes that share expression patterns with SNRPB: view

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 31 30
  • 99.86 (n)
OneToOne
dog
(Canis familiaris)
Mammalia -- 31
  • 99 (a)
OneToMany
SNRPB 30
  • 91.67 (n)
-- 31
  • 85 (a)
OneToMany
cow
(Bos Taurus)
Mammalia SNRPB 31 30
  • 92.78 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Snrpb 17 31 30
  • 91.85 (n)
rat
(Rattus norvegicus)
Mammalia Snrpb 30
  • 90.68 (n)
chicken
(Gallus gallus)
Aves SNRB' 31
  • 49 (a)
OneToMany
lizard
(Anolis carolinensis)
Reptilia -- 31
  • 96 (a)
OneToMany
African clawed frog
(Xenopus laevis)
Amphibia snrpn-prov 30
zebrafish
(Danio rerio)
Actinopterygii snrpb 31
  • 95 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta SmB 31 32
  • 67 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea snr-2 31
  • 58 (a)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes SMB1 31
  • 30 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.8195 31
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for SNRPB: view image

Paralogs for SNRPB Gene

Paralogs for SNRPB Gene

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

  • RSMB_HUMAN
  • A8MT02_HUMAN
  • B4DVS0_HUMAN
  • Q15182_HUMAN
  • Q66K91_HUMAN
  • Q9UIS4_HUMAN
  • S4R3P3_HUMAN

Pseudogenes.org Pseudogenes for SNRPB Gene

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

Variants for SNRPB Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for SNRPB Gene

SNP ID Clinical significance and condition Chr 20 pos Variation AA Info Type
708741 Likely Benign: not provided 2,463,849(-) G/A SYNONYMOUS_VARIANT
717276 Likely Benign: not provided 2,461,772(-) C/T MISSENSE_VARIANT,THREE_PRIME_UTR_VARIANT
737158 Benign: not provided 2,462,717(-) G/A MISSENSE_VARIANT
750218 Likely Benign: not provided 2,463,756(-) T/G SYNONYMOUS_VARIANT
762630 Likely Benign: not provided 2,463,819(-) A/G SYNONYMOUS_VARIANT

Additional dbSNP identifiers (rs#s) for SNRPB Gene

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)

Additional Variant Information for SNRPB Gene

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

SNP Genotyping and Copy Number Assay Products

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

Disorders for SNRPB Gene

MalaCards: The human disease database

(7) MalaCards diseases for SNRPB Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
cerebrocostomandibular syndrome
  • ccms
lupus erythematosus
  • systemic lupus erythematosus
systemic lupus erythematosus
  • sle
mandibulofacial dysostosis, guion-almeida type
  • mfdga
spinal muscular atrophy
  • progressive muscular atrophy
- 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.

Additional Disease Information for SNRPB

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

No data available for Genatlas for SNRPB Gene

Publications for SNRPB Gene

  1. Cryo-EM structure of a human spliceosome activated for step 2 of splicing. (PMID: 28076346) Bertram K … Lührmann R (Nature 2017) 3 4 54
  2. Cryo-EM Structure of a Pre-catalytic Human Spliceosome Primed for Activation. (PMID: 28781166) Bertram K … Stark H (Cell 2017) 3 4 54
  3. Molecular architecture of the human U4/U6.U5 tri-snRNP. (PMID: 26912367) Agafonov DE … Stark H (Science (New York, N.Y.) 2016) 3 4 54
  4. Crystal structure of human U1 snRNP, a small nuclear ribonucleoprotein particle, reveals the mechanism of 5' splice site recognition. (PMID: 25555158) Kondo Y … Nagai K (eLife 2015) 3 4 54
  5. Mutations in SNRPB, encoding components of the core splicing machinery, cause cerebro-costo-mandibular syndrome. (PMID: 25504470) Bacrot S … Cormier-Daire V (Human mutation 2015) 3 4 54

Products for SNRPB Gene