SNRPB2
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Also known as Msl1U2B''
Summary
SNRPB2 (small nuclear ribonucleoprotein polypeptide B2, HGNC:11155) is a protein-coding gene on chromosome 20p12.1, encoding U2 small nuclear ribonucleoprotein B’’ (P08579). Involved in pre-mRNA splicing as component of the spliceosome. It is a selective cancer dependency (DepMap: 66.4% of cell lines).
The protein encoded by this gene associates with stem loop IV of U2 small nuclear ribonucleoprotein (U2 snRNP) in the presence of snRNP-A’. The encoded protein may play a role in pre-mRNA splicing. Autoantibodies from patients with systemic lupus erythematosus frequently recognize epitopes on the encoded protein. Two transcript variants encoding the same protein have been found for this gene.
Source: NCBI Gene 6629 — RefSeq curated summary.
At a glance
- GWAS associations: 5
- Clinical variants (ClinVar): 72 total
- Druggable target: yes — 1 molecules with ChEMBL bioactivity
- Cancer dependency (DepMap): dependent in 66.4% of screened cell lines
- MANE Select transcript:
NM_003092
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:11155 |
| Approved symbol | SNRPB2 |
| Name | small nuclear ribonucleoprotein polypeptide B2 |
| Location | 20p12.1 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | Msl1, U2B'' |
| Ensembl gene | ENSG00000125870 |
| Ensembl biotype | protein_coding |
| OMIM | 603520 |
| Entrez | 6629 |
Gene structure
Transcript identifiers
Ensembl transcripts: 20 — 19 protein_coding, 1 protein_coding_CDS_not_defined
ENST00000246071, ENST00000377943, ENST00000478522, ENST00000872497, ENST00000872498, ENST00000872499, ENST00000872500, ENST00000872501, ENST00000872502, ENST00000911315, ENST00000911316, ENST00000911317, ENST00000911318, ENST00000911319, ENST00000911320, ENST00000911321, ENST00000911322, ENST00000911323, ENST00000911324, ENST00000911325
RefSeq mRNA: 2 — MANE Select: NM_003092
NM_003092, NM_198220
CCDS: CCDS13123
Canonical transcript exons
ENST00000246071 — 7 exons
| Exon | Start | End |
|---|---|---|
| ENSE00000859180 | 16732164 | 16732336 |
| ENSE00000859181 | 16737261 | 16737401 |
| ENSE00000859183 | 16738852 | 16738902 |
| ENSE00000859186 | 16740325 | 16740413 |
| ENSE00001940206 | 16730026 | 16730164 |
| ENSE00003657914 | 16731668 | 16731766 |
| ENSE00003718067 | 16740846 | 16742564 |
Expression profiles
Bgee: expression breadth ubiquitous, 295 present calls, max score 98.68.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 112.7535 / max 1011.7585, expressed in 1821 samples.
FANTOM5 promoters (2 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 183631 | 112.5344 | 1821 |
| 183632 | 0.2191 | 77 |
Top tissues by expression
295 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| oocyte | CL:0000023 | 98.68 | gold quality |
| secondary oocyte | CL:0000655 | 97.84 | gold quality |
| ganglionic eminence | UBERON:0004023 | 97.52 | gold quality |
| embryo | UBERON:0000922 | 97.12 | gold quality |
| calcaneal tendon | UBERON:0003701 | 97.09 | gold quality |
| monocyte | CL:0000576 | 96.67 | gold quality |
| mononuclear cell | CL:0000842 | 96.67 | gold quality |
| cortical plate | UBERON:0005343 | 96.64 | gold quality |
| leukocyte | CL:0000738 | 96.56 | gold quality |
| epithelium of nasopharynx | UBERON:0001951 | 96.46 | gold quality |
| endometrium epithelium | UBERON:0004811 | 96.45 | gold quality |
| skin of hip | UBERON:0001554 | 96.07 | gold quality |
| vermiform appendix | UBERON:0001154 | 95.61 | gold quality |
| islet of Langerhans | UBERON:0000006 | 95.57 | gold quality |
| superficial temporal artery | UBERON:0001614 | 95.42 | gold quality |
| caecum | UBERON:0001153 | 95.36 | gold quality |
| adult organism | UBERON:0007023 | 95.33 | gold quality |
| mammary duct | UBERON:0001765 | 95.29 | gold quality |
| lower lobe of lung | UBERON:0008949 | 95.04 | gold quality |
| lymph node | UBERON:0000029 | 95.03 | gold quality |
| mucosa of paranasal sinus | UBERON:0005030 | 95.03 | gold quality |
| ventricular zone | UBERON:0003053 | 94.86 | gold quality |
| endometrium | UBERON:0001295 | 94.83 | gold quality |
| blood vessel layer | UBERON:0004797 | 94.61 | gold quality |
| bone marrow | UBERON:0002371 | 94.57 | gold quality |
| epithelium of mammary gland | UBERON:0003244 | 94.49 | gold quality |
| corpus epididymis | UBERON:0004359 | 94.44 | gold quality |
| oral cavity | UBERON:0000167 | 94.25 | gold quality |
| amniotic fluid | UBERON:0000173 | 94.23 | gold quality |
| seminal vesicle | UBERON:0000998 | 94.23 | gold quality |
Single-cell (SCXA)
Detected in 2 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 9.83 |
| E-MTAB-6524 | no | 462.02 |
Regulation
Is transcription factor: no
Upstream regulators (CollecTRI, top): MYC
miRNA regulators (miRDB)
77 targeting SNRPB2, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):
| miRNA | Max score | Avg score | miRNA target_count |
|---|---|---|---|
| HSA-MIR-200B-3P | 100.00 | 73.31 | 2693 |
| HSA-MIR-200C-3P | 100.00 | 73.35 | 2685 |
| HSA-MIR-429 | 100.00 | 73.44 | 2698 |
| HSA-MIR-3613-3P | 100.00 | 76.36 | 7965 |
| HSA-MIR-5193 | 100.00 | 67.26 | 1744 |
| HSA-MIR-5692A | 100.00 | 74.40 | 6850 |
| HSA-MIR-1252-5P | 100.00 | 69.80 | 2774 |
| HSA-MIR-548N | 99.98 | 71.94 | 4170 |
| HSA-MIR-4789-5P | 99.98 | 70.76 | 2721 |
| HSA-MIR-568 | 99.98 | 69.86 | 2084 |
| HSA-MIR-493-5P | 99.96 | 72.47 | 2382 |
| HSA-MIR-5688 | 99.96 | 73.23 | 4504 |
| HSA-MIR-495-3P | 99.96 | 72.81 | 4197 |
| HSA-MIR-1250-3P | 99.96 | 70.04 | 4038 |
| HSA-MIR-590-3P | 99.96 | 74.34 | 6478 |
| HSA-LET-7C-3P | 99.95 | 73.42 | 2862 |
| HSA-MIR-545-3P | 99.95 | 70.74 | 2783 |
| HSA-MIR-141-3P | 99.94 | 72.79 | 2421 |
| HSA-MIR-200A-3P | 99.94 | 72.68 | 2420 |
| HSA-MIR-497-5P | 99.92 | 71.83 | 2674 |
| HSA-MIR-15A-5P | 99.90 | 72.80 | 2787 |
| HSA-MIR-16-5P | 99.90 | 72.80 | 2780 |
| HSA-MIR-195-5P | 99.90 | 72.81 | 2805 |
| HSA-MIR-15B-5P | 99.90 | 72.78 | 2798 |
| HSA-MIR-424-5P | 99.89 | 71.90 | 2641 |
| HSA-MIR-6838-5P | 99.89 | 71.94 | 2690 |
| HSA-MIR-95-5P | 99.89 | 72.17 | 3973 |
| HSA-LET-7A-2-3P | 99.87 | 70.53 | 1921 |
| HSA-MIR-579-3P | 99.86 | 71.66 | 3628 |
| HSA-LET-7G-3P | 99.85 | 70.43 | 1929 |
Functional genomics
DepMap (CRISPR cell-line fitness): dependent in 66.4% of screened cell lines.
Literature-anchored findings (GeneRIF, showing 1)
- Data suggest that protein-protein interactions localize U2A’ (SNRPA1) to the U2 snRNP (U2 small nuclear ribonucleoprotein) and exclude it from the U1 snRNP, rather than to enhance U2 snRNA (U2 small nuclear RNA; RNU2-1) binding of U2B’’ (SNRPB2). (PMID:24866816)
Cross-species orthologs
6 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | snrpb2 | ENSDARG00000039424 |
| mus_musculus | Snrpb2 | ENSMUSG00000008333 |
| rattus_norvegicus | Snrpb2 | ENSRNOG00000004967 |
| drosophila_melanogaster | snf | FBGN0003449 |
| caenorhabditis_elegans | WBGENE00004385 | |
| caenorhabditis_elegans | WBGENE00004386 |
Paralogs (1): SNRPA (ENSG00000077312)
Protein
Protein identifiers
U2 small nuclear ribonucleoprotein B’’ — P08579 (reviewed: P08579)
All UniProt accessions (1): P08579
UniProt curated annotations — full annotation on UniProt →
Function. Involved in pre-mRNA splicing as component of the spliceosome. Associated with sn-RNP U2, where it contributes to the binding of stem loop IV of U2 snRNA.
Subunit / interactions. Identified in the spliceosome B complex. Identified in the spliceosome C complex. Present in a spliceosome complex assembled in vitro, and composed of SNRPB2, HPRP8BP and CRNKL1. Contributes to the binding of stem loop IV of U2 snRNA with SNRPP1.
Subcellular location. Nucleus.
Miscellaneous. Patients with systemic lupus erythematosus produce antibodies which interact with snRNP proteins.
Similarity. Belongs to the RRM U1 A/B’’ family.
RefSeq proteins (2): NP_003083, NP_937863 (=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR000504 | RRM_dom | Domain |
| IPR012677 | Nucleotide-bd_a/b_plait_sf | Homologous_superfamily |
| IPR034562 | U2B’’_RRM2 | Domain |
| IPR034564 | U2B’’_RRM1 | Domain |
| IPR035979 | RBD_domain_sf | Homologous_superfamily |
Pfam: PF00076
UniProt features (26 total): strand 9, helix 5, domain 2, turn 2, compositionally biased region 2, modified residue 2, chain 1, region of interest 1, cross-link 1, sequence variant 1
Structure
Experimental structures (PDB)
50 structures, top 30 by resolution.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 1A9N | X-RAY DIFFRACTION | 2.38 |
| 7EVO | ELECTRON MICROSCOPY | 2.5 |
| 8H6L | ELECTRON MICROSCOPY | 2.6 |
| 8H6K | ELECTRON MICROSCOPY | 2.7 |
| 8HK1 | ELECTRON MICROSCOPY | 2.7 |
| 8C6J | ELECTRON MICROSCOPY | 2.8 |
| 6ID1 | ELECTRON MICROSCOPY | 2.86 |
| 6ID0 | ELECTRON MICROSCOPY | 2.9 |
| 6ICZ | ELECTRON MICROSCOPY | 3 |
| 7VPX | ELECTRON MICROSCOPY | 3 |
| 8I0R | ELECTRON MICROSCOPY | 3 |
| 8I0T | ELECTRON MICROSCOPY | 3 |
| 8I0V | ELECTRON MICROSCOPY | 3 |
| 8H6E | ELECTRON MICROSCOPY | 3.2 |
| 8H6J | ELECTRON MICROSCOPY | 3.25 |
| 6QX9 | ELECTRON MICROSCOPY | 3.28 |
| 6QDV | ELECTRON MICROSCOPY | 3.3 |
| 8I0U | ELECTRON MICROSCOPY | 3.3 |
| 9FMD | ELECTRON MICROSCOPY | 3.3 |
| 8I0P | ELECTRON MICROSCOPY | 3.4 |
| 8I0W | ELECTRON MICROSCOPY | 3.4 |
| 5XJC | ELECTRON MICROSCOPY | 3.6 |
| 7W59 | ELECTRON MICROSCOPY | 3.6 |
| 7W5A | ELECTRON MICROSCOPY | 3.6 |
| 6AHD | ELECTRON MICROSCOPY | 3.8 |
| 5YZG | ELECTRON MICROSCOPY | 4.1 |
| 8QZS | ELECTRON MICROSCOPY | 4.1 |
| 8I0S | ELECTRON MICROSCOPY | 4.2 |
| 7W5B | ELECTRON MICROSCOPY | 4.3 |
| 8R09 | ELECTRON MICROSCOPY | 4.3 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-P08579-F1 | 83.46 | 0.62 |
Functional residue map
Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.
Post-translational modifications (3): 111, 151, 111
Function
Pathways and Gene Ontology
Reactome pathways
7 pathways
| ID | Pathway |
|---|---|
| R-HSA-72163 | mRNA Splicing - Major Pathway |
| R-HSA-9770562 | mRNA Polyadenylation |
| R-HSA-9918481 | Dengue Virus-Host Interactions |
| R-HSA-9943411 | CHD1 and CHD2 subfamily |
| R-HSA-72172 | mRNA Splicing |
| R-HSA-72203 | Processing of Capped Intron-Containing Pre-mRNA |
| R-HSA-8953854 | Metabolism of RNA |
MSigDB gene sets: 386 (showing top):
GSE18804_SPLEEN_MACROPHAGE_VS_BRAIN_TUMORAL_MACROPHAGE_UP, GSE18804_SPLEEN_MACROPHAGE_VS_TUMORAL_MACROPHAGE_UP, MODULE_52, GCM_GSPT1, MODULE_151, MORF_UBE2I, MODULE_16, PUJANA_CHEK2_PCC_NETWORK, OUELLET_OVARIAN_CANCER_INVASIVE_VS_LMP_UP, MODULE_388, ONKEN_UVEAL_MELANOMA_UP, ROZANOV_MMP14_TARGETS_UP, REACTOME_MRNA_3_END_PROCESSING, REACTOME_PROCESSING_OF_CAPPED_INTRON_CONTAINING_PRE_MRNA, BYSTRYKH_HEMATOPOIESIS_STEM_CELL_AND_BRAIN_QTL_CIS
GO Biological Process (4): mRNA splicing, via spliceosome (GO:0000398), U2-type prespliceosome assembly (GO:1903241), mRNA processing (GO:0006397), RNA splicing (GO:0008380)
GO Molecular Function (4): U1 snRNA binding (GO:0030619), nucleic acid binding (GO:0003676), RNA binding (GO:0003723), protein binding (GO:0005515)
GO Cellular Component (14): fibrillar center (GO:0001650), nucleus (GO:0005634), nucleoplasm (GO:0005654), spliceosomal complex (GO:0005681), U2-type spliceosomal complex (GO:0005684), U1 snRNP (GO:0005685), U2 snRNP (GO:0005686), nuclear speck (GO:0016607), cytoplasmic ribonucleoprotein granule (GO:0036464), U2-type precatalytic spliceosome (GO:0071005), U2-type catalytic step 2 spliceosome (GO:0071007), catalytic step 2 spliceosome (GO:0071013), spliceosomal snRNP complex (GO:0097525), ribonucleoprotein complex (GO:1990904)
Reactome top-level categories
Rollup of top-6 pathways:
| Category | Pathways |
|---|---|
| mRNA Splicing | 1 |
| mRNA 3’-end processing | 1 |
| Dengue Virus Infection | 1 |
| CHD chromatin remodelers | 1 |
| Processing of Capped Intron-Containing Pre-mRNA | 1 |
| Metabolism of RNA | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| RNA processing | 2 |
| binding | 2 |
| cellular anatomical structure | 2 |
| spliceosomal complex | 2 |
| spliceosomal snRNP complex | 2 |
| U2-type spliceosomal complex | 2 |
| U2 snRNP | 2 |
| RNA splicing, via transesterification reactions with bulged adenosine as nucleophile | 1 |
| mRNA processing | 1 |
| spliceosomal complex assembly | 1 |
| mRNA metabolic process | 1 |
| snRNA binding | 1 |
| nucleic acid binding | 1 |
| nucleolus | 1 |
| intracellular membrane-bounded organelle | 1 |
| nuclear lumen | 1 |
| nuclear protein-containing complex | 1 |
| ribonucleoprotein complex | 1 |
| nuclear ribonucleoprotein granule | 1 |
| cytoplasm | 1 |
| ribonucleoprotein granule | 1 |
| U1 snRNP | 1 |
| U4/U6 x U5 tri-snRNP complex | 1 |
| precatalytic spliceosome | 1 |
| U6 snRNP | 1 |
| catalytic step 2 spliceosome | 1 |
| Prp19 complex | 1 |
| U5 snRNP | 1 |
| catalytic complex | 1 |
| small nuclear ribonucleoprotein complex | 1 |
| protein-containing complex | 1 |
Protein interactions and networks
STRING
2807 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| SNRPB2 | SNRPA1 | P09661 | 997 |
| SNRPB2 | SNRPB | P14678 | 856 |
| SNRPB2 | WBP4 | O75554 | 855 |
| SNRPB2 | SNRPC | P09234 | 789 |
| SNRPB2 | SNRNP70 | P08621 | 769 |
| SNRPB2 | SNRPG | P62308 | 702 |
| SNRPB2 | U2AF1 | Q01081 | 670 |
| SNRPB2 | SNRPD2 | P43330 | 658 |
| SNRPB2 | SRSF2 | Q01130 | 577 |
| SNRPB2 | CGB5 | P01233 | 568 |
| SNRPB2 | SNRPN | P14648 | 567 |
| SNRPB2 | SRSF1 | Q07955 | 540 |
| SNRPB2 | LACTBL1 | A8MY62 | 531 |
| SNRPB2 | SNRPF | P62306 | 514 |
| SNRPB2 | APOL2 | Q9BQE5 | 512 |
IntAct
212 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| IFIT1 | IFIT3 | psi-mi:“MI:0914”(association) | 0.920 |
| SNRPB2 | SNRPA1 | psi-mi:“MI:0915”(physical association) | 0.910 |
| CSNK1A1 | FAM83G | psi-mi:“MI:0914”(association) | 0.900 |
| IFIT2 | IFIT3 | psi-mi:“MI:0914”(association) | 0.780 |
| SNRPE | GEMIN2 | psi-mi:“MI:0914”(association) | 0.770 |
| EZH2 | EPOP | psi-mi:“MI:0914”(association) | 0.730 |
| PHF5A | SF3B1 | psi-mi:“MI:0914”(association) | 0.730 |
| ZBTB14 | SNRPB2 | psi-mi:“MI:0915”(physical association) | 0.720 |
| TRIM27 | SNRPB2 | psi-mi:“MI:0915”(physical association) | 0.720 |
| SNRPB2 | ZBTB14 | psi-mi:“MI:0915”(physical association) | 0.720 |
| SNRPB2 | TRIM27 | psi-mi:“MI:0915”(physical association) | 0.720 |
| SNRPD2 | GEMIN2 | psi-mi:“MI:0914”(association) | 0.710 |
| SNRPG | GEMIN2 | psi-mi:“MI:0914”(association) | 0.710 |
| SNRPB2 | PNMA1 | psi-mi:“MI:0915”(physical association) | 0.700 |
| PNMA1 | SNRPB2 | psi-mi:“MI:0915”(physical association) | 0.700 |
| SNRPB | PRMT5 | psi-mi:“MI:0914”(association) | 0.670 |
| SNRPA1 | HTATSF1 | psi-mi:“MI:0914”(association) | 0.640 |
| NCBP1 | KPNA3 | psi-mi:“MI:0914”(association) | 0.640 |
| SF3B1 | SAP18 | psi-mi:“MI:0914”(association) | 0.640 |
| SNRNP70 | GEMIN2 | psi-mi:“MI:0914”(association) | 0.640 |
| SNRPA1 | U2SURP | psi-mi:“MI:0914”(association) | 0.640 |
| PPP4R2 | SF3B1 | psi-mi:“MI:0914”(association) | 0.570 |
BioGRID (412): SNRPB2 (Two-hybrid), SNRPB2 (Two-hybrid), SNRPB2 (Two-hybrid), SNRPB2 (Two-hybrid), ZBTB14 (Two-hybrid), PNMA1 (Two-hybrid), MTUS2 (Two-hybrid), HOMEZ (Two-hybrid), HMBOX1 (Two-hybrid), SNRPB2 (Affinity Capture-MS), SNRPB2 (Affinity Capture-MS), SNRPB2 (Affinity Capture-MS), SNRPB2 (Affinity Capture-MS), SF3A3 (Co-fractionation), SF3B1 (Co-fractionation)
ESM2 similar proteins: A2Y0J7, B5DF91, B8AM21, O22922, O95758, P08579, P09012, P17225, P26599, P43332, P45429, P70372, Q00438, Q06AA4, Q08E07, Q0DKM4, Q0J9Y2, Q10MR0, Q12926, Q14576, Q15717, Q28FX0, Q29099, Q2KIR1, Q39244, Q54J05, Q5SZQ8, Q5U259, Q60900, Q62189, Q66H20, Q6GLB5, Q7ZWM3, Q8BHD7, Q8CH84, Q8CIN6, Q8H1S6, Q8WN55, Q8WVV9, Q91579
Diamond homologs: A2Y0J7, A5A6M3, A6NDE4, A6NEQ0, B8AM21, O22922, O74968, O75494, P08579, P09012, P0C7P1, P0DJD3, P0DJD4, P38159, P40567, P43332, P45429, P59708, Q06AA4, Q0DKM4, Q10MR0, Q15415, Q2KIR1, Q39244, Q4R7F0, Q4V898, Q54J05, Q62189, Q6IRQ4, Q7LL14, Q7ZWA3, Q8H1S6, Q8ITY4, Q8WXF0, Q91VM5, Q9CQI7, Q9FMP4, Q9R0U0, Q9WV02, Q9Y3B4
SIGNOR signaling
1 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| SNRPB2 | “form complex” | “U2 snRNP complex” | binding |
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 157 IntAct physical interaction partners (hypergeometric vs the genome-wide background, BH-FDR, gene-set size 15–500, ranked by fold). A functional readout of the neighbourhood — distinct from this gene’s own memberships above, and biased toward well-studied / hub proteins, so read it as themes rather than proof.
Reactome pathways:
| Pathway | Partners | Fold | FDR |
|---|---|---|---|
| Metabolism of non-coding RNA | 9 | 48.0× | 3e-12 |
| mRNA Splicing | 30 | 27.7× | 7e-34 |
| mRNA Splicing - Minor Pathway | 13 | 24.5× | 2e-13 |
| mRNA Polyadenylation | 32 | 23.6× | 7e-34 |
| Processing of Capped Intron-Containing Pre-mRNA | 34 | 23.5× | 9e-36 |
| SARS-CoV-2 modulates host translation machinery | 10 | 18.8× | 5e-09 |
| RNA Polymerase II Transcription Termination | 10 | 18.5× | 6e-09 |
| CHD1 and CHD2 subfamily | 20 | 18.3× | 3e-18 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| U2-type prespliceosome assembly | 17 | 75.2× | 6e-27 |
| spliceosomal snRNP assembly | 10 | 41.2× | 5e-12 |
| spliceosomal complex assembly | 9 | 38.4× | 2e-10 |
| RNA splicing, via transesterification reactions | 6 | 26.6× | 8e-06 |
| mRNA splicing, via spliceosome | 34 | 22.1× | 1e-33 |
| RNA splicing | 22 | 13.8× | 1e-16 |
| intrinsic apoptotic signaling pathway | 5 | 12.7× | 4e-03 |
| regulation of RNA splicing | 6 | 9.3× | 4e-03 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
72 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 48 |
| Likely benign | 1 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
2074 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 17:40123379:CGGTA:C | donor_loss | 1.0000 |
| 17:40123380:GGT:G | donor_loss | 1.0000 |
| 17:40123381:G:GG | donor_gain | 1.0000 |
| 17:40123381:GTACG:G | donor_loss | 1.0000 |
| 17:40123382:T:A | donor_loss | 1.0000 |
| 17:40126178:TTTA:T | acceptor_loss | 1.0000 |
| 17:40126179:TTA:T | acceptor_loss | 1.0000 |
| 17:40126180:TAGCT:T | acceptor_loss | 1.0000 |
| 17:40126181:A:AG | acceptor_gain | 1.0000 |
| 17:40126181:A:T | acceptor_loss | 1.0000 |
| 17:40126182:G:GT | acceptor_gain | 1.0000 |
| 17:40126182:GC:G | acceptor_gain | 1.0000 |
| 17:40126182:GCT:G | acceptor_gain | 1.0000 |
| 17:40126182:GCTC:G | acceptor_gain | 1.0000 |
| 17:40126182:GCTCC:G | acceptor_gain | 1.0000 |
| 17:40126396:GGACA:G | donor_gain | 1.0000 |
| 17:40126404:AAG:A | donor_loss | 1.0000 |
| 17:40126405:AGGTG:A | donor_loss | 1.0000 |
| 17:40126406:GGTG:G | donor_loss | 1.0000 |
| 17:40126407:G:C | donor_loss | 1.0000 |
| 17:40129624:GCAA:G | donor_gain | 1.0000 |
| 17:40129628:G:GG | donor_gain | 1.0000 |
| 17:40131580:GGCTG:G | donor_gain | 1.0000 |
| 17:40131581:GCTG:G | donor_gain | 1.0000 |
| 17:40131581:GCTGG:G | donor_gain | 1.0000 |
| 17:40131582:CTGGT:C | donor_loss | 1.0000 |
| 17:40131583:TGGT:T | donor_loss | 1.0000 |
| 17:40131585:G:C | donor_loss | 1.0000 |
| 17:40131585:G:GG | donor_gain | 1.0000 |
| 17:40131586:T:A | donor_loss | 1.0000 |
AlphaMissense
1496 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 20:16732175:T:C | S26P | 1.000 |
| 20:16732179:T:C | L27P | 1.000 |
| 20:16732199:T:C | F34L | 1.000 |
| 20:16732201:T:A | F34L | 1.000 |
| 20:16732201:T:G | F34L | 1.000 |
| 20:16732202:G:C | G35R | 1.000 |
| 20:16732203:G:A | G35D | 1.000 |
| 20:16732203:G:T | G35V | 1.000 |
| 20:16732245:G:C | R49T | 1.000 |
| 20:16732245:G:T | R49M | 1.000 |
| 20:16732246:G:C | R49S | 1.000 |
| 20:16732246:G:T | R49S | 1.000 |
| 20:16732247:G:A | G50R | 1.000 |
| 20:16732247:G:C | G50R | 1.000 |
| 20:16732247:G:T | G50W | 1.000 |
| 20:16732248:G:A | G50E | 1.000 |
| 20:16732248:G:T | G50V | 1.000 |
| 20:16732251:A:C | Q51P | 1.000 |
| 20:16732252:G:C | Q51H | 1.000 |
| 20:16732252:G:T | Q51H | 1.000 |
| 20:16732253:G:C | A52P | 1.000 |
| 20:16732254:C:A | A52D | 1.000 |
| 20:16732256:T:A | F53I | 1.000 |
| 20:16732256:T:C | F53L | 1.000 |
| 20:16732258:T:A | F53L | 1.000 |
| 20:16732258:T:G | F53L | 1.000 |
| 20:16732260:T:A | V54D | 1.000 |
| 20:16732263:T:A | I55K | 1.000 |
| 20:16732266:T:C | F56S | 1.000 |
| 20:16732292:G:C | A65P | 1.000 |
dbSNP variants (sampled 300 via entrez): RS1000089991 (20:16742696 G>A,C), RS1000797936 (20:16730205 A>G), RS1001030440 (20:16734640 T>A,C), RS1001073869 (20:16741380 A>G), RS1001092297 (20:16733854 G>A), RS1001181537 (20:16736052 A>G), RS1001409687 (20:16729915 C>A,T), RS1001713350 (20:16742709 TC>T), RS1002184152 (20:16734711 G>A,C), RS1002298113 (20:16730535 C>G,T), RS1002359039 (20:16728712 C>T), RS1002717887 (20:16741872 C>G,T), RS1002816696 (20:16728369 A>G,T), RS1002855520 (20:16737497 T>C), RS1002892763 (20:16739722 CCTTT>C)
Disease associations
OMIM: gene MIM:603520 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
5 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST005724_3 | Food allergy (maternal genetic effects) | 7.000000e-06 |
| GCST006298_6 | Response to haloperidol in schizophrenia | 9.000000e-06 |
| GCST008916_21 | Asthma | 2.000000e-62 |
| GCST008916_85 | Asthma | 2.000000e-12 |
| GCST009391_546 | Metabolite levels | 2.000000e-06 |
EFO canonical traits (3, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0005939 | parental genotype effect measurement |
| EFO:0007016 | food allergy measurement |
| EFO:0010496 | hippuric acid measurement |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: yes
ChEMBL targets (1): CHEMBL5725125 (SINGLE PROTEIN)
Molecules with ChEMBL bioactivity
1 molecules (phase ≥1), by development phase (incl. off-target/promiscuous compounds). Patent mentions across the top 20 by phase: 1,538 (via chembl_molecule»patent_compound — counts attach to the compound, not the gene–compound relationship, so off-target/promiscuous molecules can dominate).
| Molecule | Name | Phase | Patents |
|---|---|---|---|
| CHEMBL1232461 | MOLIBRESIB | 2 | 1,538 |
PharmGKB: 1 entry (VIP=true, CPIC=false)
ChEMBL bioactivities
3 potent at pChembl≥5 of 3 total, top 3 by pChembl (potency: 10 = 0.1 nM, 6 = 1 µM).
| pChembl | Type | Value | Unit | Molecule |
|---|---|---|---|---|
| 7.02 | Kd | 94.7 | nM | CHEMBL5653589 |
| 7.02 | ED50 | 94.7 | nM | CHEMBL5653589 |
| 5.23 | IC50 | 5870 | nM | MOLIBRESIB |
PubChem BioAssay actives
2 with measured affinity, of 8 total; 2 most potent distinct compounds. Largely complementary to BindingDB; screening values are coarse (µM, 4 dp), so sub-nM hits tie at the floor.
| Compound | Assay | Type | Value | Unit |
|---|---|---|---|---|
| 4-methyl-3-[(2-methyl-6-pyridin-3-ylpyrazolo[3,4-d]pyrimidin-4-yl)amino]-N-[3-(trifluoromethyl)phenyl]benzamide | 2149456: Binding affinity to human SNRPB2 incubated for 45 mins by Kinobead based pull down assay | kd | 0.0947 | uM |
| 2-[(4S)-6-(4-chlorophenyl)-8-methoxy-1-methyl-4H-[1,2,4]triazolo[4,3-a][1,4]benzodiazepin-4-yl]-N-ethylacetamide | 2178631: Inhibition of SNRPB2 (unknown origin) incubated for 1 hr by colloidal coomassie staining based LC-MS/MS analysis | ic50 | 5.8700 | uM |
CTD chemical–gene interactions
46 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Air Pollutants | affects expression, increases abundance, decreases expression | 3 |
| bisphenol F | increases expression, affects cotreatment | 2 |
| sodium arsenite | decreases expression, affects cotreatment, increases abundance, increases expression | 2 |
| Benzo(a)pyrene | increases expression, increases methylation | 2 |
| 2,4,6-tribromophenol | decreases expression | 1 |
| methylmercuric chloride | decreases expression | 1 |
| bisphenol A | decreases expression | 1 |
| nobiletin | decreases expression, decreases reaction | 1 |
| sodium arsenate | decreases expression, decreases reaction | 1 |
| decabromobiphenyl ether | decreases expression | 1 |
| arsenite | affects binding, increases reaction | 1 |
| mono-(2-ethylhexyl)phthalate | decreases expression | 1 |
| tetrabromobisphenol A | decreases expression | 1 |
| manganese chloride | affects cotreatment, increases abundance, increases expression | 1 |
| nickel sulfate | decreases expression | 1 |
| pinosylvin | decreases expression | 1 |
| CGP 52608 | affects binding, increases reaction | 1 |
| 2,2’,4,4’-tetrabromodiphenyl ether | decreases expression | 1 |
| pentabrominated diphenyl ether 100 | decreases expression | 1 |
| hexabrominated diphenyl ether 153 | decreases expression | 1 |
| bisphenol AF | increases expression | 1 |
| Temozolomide | increases expression | 1 |
| Arsenic | increases expression, affects cotreatment, increases abundance | 1 |
| Cadmium | decreases expression, increases abundance | 1 |
| Carmustine | increases expression | 1 |
| Copper | affects binding, decreases expression | 1 |
| Dichlorodiphenyl Dichloroethylene | increases expression | 1 |
| Dexamethasone | affects cotreatment, increases expression | 1 |
| Disulfiram | affects binding, decreases expression | 1 |
| Diuron | decreases expression | 1 |
ChEMBL screening assays
7 unique, capped per target: 7 binding
Representative assays (with source publication via chembl_document):
| Assay ID | Type | Description | Source paper |
|---|---|---|---|
| CHEMBL5652498 | Binding | Binding affinity to human SNRPB2 incubated for 45 mins by Kinobead based pull down assay | NVP-BHG712: Effects of Regioisomers on the Affinity and Selectivity toward the EPHrin Family. — ChemMedChem |
Cellosaurus cell lines
1 cell lines: 1 cancer cell line
First 10 cell lines (id-ordered, not curated):
| Cellosaurus | Name | Category | Sex |
|---|---|---|---|
| CVCL_B2GW | Abcam HeLa SNRPB2 KO | Cancer cell line | Female |
Clinical trials (associated diseases)
0 trials via MONDO — disease-level, not drug-specific.
Related Atlas pages
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): asthma