SNRNP48

gene
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Also known as FLJ32234dJ512B11.2dJ336K20B.1

Summary

SNRNP48 (small nuclear ribonucleoprotein U11/U12 subunit 48, HGNC:21368) is a protein-coding gene on chromosome 6p24.3, encoding U11/U12 small nuclear ribonucleoprotein 48 kDa protein (Q6IEG0). Likely involved in U12-type 5’ splice site recognition. It is a selective cancer dependency (DepMap: 36.4% of cell lines).

Predicted to enable zinc ion binding activity. Predicted to be involved in RNA splicing. Located in cytosol and nucleoplasm. Part of U12-type spliceosomal complex.

Source: NCBI Gene 154007 — RefSeq curated summary.

At a glance

  • GWAS associations: 6
  • Clinical variants (ClinVar): 62 total
  • Cancer dependency (DepMap): dependent in 36.4% of screened cell lines
  • MANE Select transcript: NM_152551

Identifiers

Gene identifiers

FieldValue
HGNC IDHGNC:21368
Approved symbolSNRNP48
Namesmall nuclear ribonucleoprotein U11/U12 subunit 48
Location6p24.3
Locus typegene with protein product
StatusApproved
AliasesFLJ32234, dJ512B11.2, dJ336K20B.1
Ensembl geneENSG00000168566
Ensembl biotypeprotein_coding
Entrez154007

Gene structure

Transcript identifiers

Ensembl transcripts: 6 — 4 protein_coding, 1 retained_intron, 1 nonsense_mediated_decay

ENST00000342415, ENST00000496946, ENST00000634363, ENST00000864978, ENST00000864979, ENST00000944524

RefSeq mRNA: 1 — MANE Select: NM_152551 NM_152551

CCDS: CCDS4502

Canonical transcript exons

ENST00000342415 — 9 exons

ExonStartEnd
ENSE0000115270576013367601524
ENSE0000115491075950277595101
ENSE0000115491875940997594159
ENSE0000115492775937347593847
ENSE0000115493275901987590413
ENSE0000142818676088257611967
ENSE0000355023176053987605486
ENSE0000355128276060317606195
ENSE0000357201976026237602744

Expression profiles

Bgee: expression breadth ubiquitous, 244 present calls, max score 91.53.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 14.2232 / max 169.1686, expressed in 1794 samples.

FANTOM5 promoters (2 alternative TSS)

Promoter IDTPM avgSamples expressed
6570610.91251773
657053.31071476

Top tissues by expression

254 total, by Bgee expression score (0-100, higher = more expressed):

TissueAnatomy IDExpression scoreQuality
buccal mucosa cellCL:000233691.53gold quality
tendonUBERON:000004388.21gold quality
calcaneal tendonUBERON:000370188.13gold quality
tendon of biceps brachiiUBERON:000818887.68silver quality
oviduct epitheliumUBERON:000480487.26gold quality
islet of LangerhansUBERON:000000685.63gold quality
medial globus pallidusUBERON:000247784.27gold quality
ileal mucosaUBERON:000033183.98silver quality
cerebellar hemisphereUBERON:000224583.28gold quality
adrenal tissueUBERON:001830383.26gold quality
cerebellar cortexUBERON:000212983.22gold quality
muscle of legUBERON:000138382.95gold quality
monocyteCL:000057682.92gold quality
gastrocnemiusUBERON:000138882.87gold quality
leukocyteCL:000073882.75gold quality
right hemisphere of cerebellumUBERON:001489082.43gold quality
heart left ventricleUBERON:000208482.40gold quality
male germ line stem cell (sensu Vertebrata) in testisCL:0000089 ∩ UBERON:000047382.38gold quality
right atrium auricular regionUBERON:000663182.34gold quality
cerebellumUBERON:000203782.15gold quality
left ovaryUBERON:000211982.15gold quality
cardiac ventricleUBERON:000208282.13gold quality
endothelial cellCL:000011581.86gold quality
smooth muscle tissueUBERON:000113581.74gold quality
biceps brachiiUBERON:000150781.64gold quality
pancreasUBERON:000126481.52gold quality
endocervixUBERON:000045881.48gold quality
right ovaryUBERON:000211881.46gold quality
heartUBERON:000094881.42gold quality
cartilage tissueUBERON:000241881.40gold quality

Single-cell (SCXA)

Detected in 1 experiment(s), a significant marker in 0.

ExperimentMarker?Max mean expression
E-ANND-3no4.38

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

118 targeting SNRNP48, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):

miRNAMax scoreAvg scoremiRNA target_count
HSA-MIR-5011-5P100.0083.465820
HSA-MIR-190A-3P100.0080.355520
HSA-MIR-1277-5P100.0073.955056
HSA-MIR-3163100.0077.238605
HSA-MIR-4795-3P100.0074.624024
HSA-MIR-3613-3P100.0076.367965
HSA-MIR-3646100.0073.565283
HSA-MIR-5692A100.0074.406850
HSA-MIR-186-5P99.9970.833707
HSA-MIR-428299.9975.366408
HSA-MIR-477599.9875.006394
HSA-MIR-548P99.9872.253784
HSA-MIR-493-5P99.9672.472382
HSA-MIR-548AJ-3P99.9673.385345
HSA-MIR-548X-3P99.9673.385345
HSA-MIR-651-3P99.9473.485177
HSA-MIR-548J-3P99.9472.614881
HSA-MIR-144-3P99.9473.982698
HSA-MIR-548AE-3P99.9372.664867
HSA-MIR-548AH-3P99.9372.544872
HSA-MIR-548AM-3P99.9372.544872
HSA-MIR-548AQ-3P99.9372.664867
HSA-MIR-6768-5P99.9267.361942
HSA-MIR-145-5P99.9271.131836
HSA-MIR-5195-3P99.9270.921877
HSA-MIR-129799.9173.413162
HSA-MIR-568099.9169.833421
HSA-MIR-329-3P99.9166.561234
HSA-MIR-362-3P99.9166.381267
HSA-MIR-10527-5P99.9172.283754

Functional genomics

DepMap (CRISPR cell-line fitness): dependent in 36.4% of screened cell lines.

Literature-anchored findings (GeneRIF, showing 2)

  • RNA interference-induced knockdown of 48K led to reduced cell growth and the inhibition of U12-type splicing, as well as the activation of cryptic, U2-type splice sites, suggesting that 48K plays a critical role in U12-type intron recognition. (PMID:18347052)
  • A model in which the U11-48K Zn finger stabilizes U11-5’ splice site base pairing and thus plays an important role during the minor spliceosome assembly. (PMID:19217400)

Cross-species orthologs

3 orthologs

OrganismSymbolGene ID
danio_reriosnrnp48ENSDARG00000039989
mus_musculusSnrnp48ENSMUSG00000021431
rattus_norvegicusSnrnp48ENSRNOG00000013756

Paralogs (2): GTSF1L (ENSG00000124196), GTSF1 (ENSG00000170627)

Protein

Protein identifiers

U11/U12 small nuclear ribonucleoprotein 48 kDa proteinQ6IEG0 (reviewed: Q6IEG0)

All UniProt accessions (2): Q6IEG0, A0A0U1RQZ2

UniProt curated annotations — full annotation on UniProt →

Function. Likely involved in U12-type 5’ splice site recognition.

Subunit / interactions. Component of the U11/U12 snRNPs that are part of the U12-type spliceosome. Not found in the major spliceosome.

Subcellular location. Nucleus.

Domain organisation. The CHHC region interacts with the 5’ splice site of the U12-type intron.

Isoforms (2)

UniProt IDNamesCanonical?
Q6IEG0-11yes
Q6IEG0-22

RefSeq proteins (1): NP_689764* (*=MANE)

Domains & families (InterPro)

IDNameType
IPR022776TRM13/UPF0224_CHHC_Znf_domDomain
IPR036236Znf_C2H2_sfHomologous_superfamily
IPR051591UPF0224_FAM112_RNA_ProcFamily

Pfam: PF05253

UniProt features (38 total): helix 12, strand 7, binding site 4, compositionally biased region 3, cross-link 2, splice variant 2, sequence variant 2, turn 2, chain 1, zinc finger region 1, sequence conflict 1, region of interest 1

Structure

Experimental structures (PDB)

7 structures.

PDBMethodResolution (Å)
9GCLELECTRON MICROSCOPY3
9GC0ELECTRON MICROSCOPY3.2
8Y6OELECTRON MICROSCOPY3.38
8R7NELECTRON MICROSCOPY3.4
9GBWELECTRON MICROSCOPY3.5
2VY4SOLUTION NMR
2VY5SOLUTION NMR

Predicted structure (AlphaFold)

ModelpLDDTFraction very-high
AF-Q6IEG0-F171.670.13

Functional residue map

Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.

Ligand- & substrate-binding residues (4): 58; 64; 74; 78

Post-translational modifications (2): 87, 104

Function

Pathways and Gene Ontology

Reactome pathways

4 pathways

IDPathway
R-HSA-72165mRNA Splicing - Minor Pathway
R-HSA-72172mRNA Splicing
R-HSA-72203Processing of Capped Intron-Containing Pre-mRNA
R-HSA-8953854Metabolism of RNA

MSigDB gene sets: 88 (showing top): MIDORIKAWA_AMPLIFIED_IN_LIVER_CANCER, chr6p24, GRAESSMANN_APOPTOSIS_BY_SERUM_DEPRIVATION_UP, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_DN, GRAESSMANN_RESPONSE_TO_MC_AND_DOXORUBICIN_DN, REACTOME_PROCESSING_OF_CAPPED_INTRON_CONTAINING_PRE_MRNA, GOBP_PROTEIN_RNA_COMPLEX_ORGANIZATION, GOBP_RNA_SPLICING, LIAO_METASTASIS, REACTOME_MRNA_SPLICING, GOBP_RIBONUCLEOPROTEIN_COMPLEX_BIOGENESIS, MILI_PSEUDOPODIA_CHEMOTAXIS_DN, REACTOME_METABOLISM_OF_RNA, GOCC_PRECATALYTIC_SPLICEOSOME, MARSON_BOUND_BY_E2F4_UNSTIMULATED

GO Biological Process (2): mRNA processing (GO:0006397), RNA splicing (GO:0008380)

GO Molecular Function (3): zinc ion binding (GO:0008270), protein binding (GO:0005515), metal ion binding (GO:0046872)

GO Cellular Component (5): nucleoplasm (GO:0005654), U12-type spliceosomal complex (GO:0005689), cytosol (GO:0005829), nucleus (GO:0005634), spliceosomal complex (GO:0005681)

Reactome top-level categories

Rollup of top-3 pathways:

CategoryPathways
mRNA Splicing1
Processing of Capped Intron-Containing Pre-mRNA1
Metabolism of RNA1

GO top-level categories

Rollup of top GO terms by namespace:

CategoryTerms
RNA processing2
cellular anatomical structure2
mRNA metabolic process1
transition metal ion binding1
binding1
cation binding1
nuclear lumen1
spliceosomal complex1
cytoplasm1
intracellular membrane-bounded organelle1
nuclear protein-containing complex1
ribonucleoprotein complex1

Protein interactions and networks

STRING

1408 interactions, top by confidence (×1000):

Protein AProtein BPartner UniProtScore
SNRNP48RNPC3Q96LT9809
SNRNP48SNRNP25Q9BV90809
SNRNP48SNRNP35Q16560784
SNRNP48ZMAT5Q9UDW3709
SNRNP48ZCRB1Q8TBF4686
SNRNP48PDCD7Q8N8D1643
SNRNP48GTSF1Q8WW33515
SNRNP48ZRSR2Q15696513
SNRNP48SNRPCP09234465
SNRNP48CWC25Q9NXE8428
SNRNP48PCMTD2Q9NV79422
SNRNP48CENATACQ86UT8419
SNRNP48TMEM44Q2T9K0413
SNRNP48GTSF1LQ9H1H1407
SNRNP48SAYSD1Q9NPB0397
SNRNP48RUFY4Q6ZNE9397

IntAct

56 interactions, top by confidence:

ABTypeScore
SNRPEGEMIN2psi-mi:“MI:0914”(association)0.770
ZRSR2SF3B1psi-mi:“MI:0914”(association)0.730
SNRPD2GEMIN2psi-mi:“MI:0914”(association)0.710
SNRPGGEMIN2psi-mi:“MI:0914”(association)0.710
SNRPBPRMT5psi-mi:“MI:0914”(association)0.670
SF3B1SAP18psi-mi:“MI:0914”(association)0.640
ZCRB1SF3B1psi-mi:“MI:0914”(association)0.640
SNRNP48ENKD1psi-mi:“MI:0915”(physical association)0.560
SNRNP48CDCA7Lpsi-mi:“MI:0915”(physical association)0.560
UBASH3ASNRNP48psi-mi:“MI:0915”(physical association)0.560
SNRNP48SPRED1psi-mi:“MI:0915”(physical association)0.560
SNRPEPRMT5psi-mi:“MI:0914”(association)0.530
SNRPNPRMT5psi-mi:“MI:0914”(association)0.530
ZCRB1DKC1psi-mi:“MI:0914”(association)0.530
ZMAT5DENND4Bpsi-mi:“MI:0914”(association)0.530
SNRPESNRPGP15psi-mi:“MI:0914”(association)0.530
SNRPFSNRPGP15psi-mi:“MI:0914”(association)0.530
ELOVL6SNRNP48psi-mi:“MI:0915”(physical association)0.400
Rab11fip1ZKSCAN1psi-mi:“MI:0914”(association)0.350
NCBP3RSL1D1psi-mi:“MI:0914”(association)0.350
SNRPGP15GEMIN2psi-mi:“MI:0914”(association)0.350
SNRPFGEMIN2psi-mi:“MI:0914”(association)0.350
ZRSR2U2SURPpsi-mi:“MI:0914”(association)0.350
SNRNP35SNRNP48psi-mi:“MI:0914”(association)0.350
repCPNE3psi-mi:“MI:0914”(association)0.350

BioGRID (64): SNRNP48 (Affinity Capture-MS), SNRNP48 (Affinity Capture-MS), SNRNP48 (Affinity Capture-MS), SNRNP48 (Affinity Capture-MS), SNRNP48 (Affinity Capture-MS), SNRNP48 (Affinity Capture-MS), SNRNP48 (Affinity Capture-MS), SNRNP48 (Affinity Capture-MS), SNRNP48 (Affinity Capture-MS), SNRNP48 (Affinity Capture-MS), SNRNP48 (Affinity Capture-MS), SNRNP48 (Affinity Capture-MS), SNRNP48 (Affinity Capture-MS), SNRNP48 (Affinity Capture-MS), SNRNP48 (Two-hybrid)

ESM2 similar proteins: A0AUP1, A4II15, A7MCB7, E1C760, F6RRD7, F7AEX0, P14629, P78316, Q1L8X2, Q28DG8, Q2IA00, Q3T071, Q3U155, Q3ZCI6, Q4R6T7, Q4R8R3, Q4R8V8, Q4V7N4, Q5PQS7, Q5R939, Q5RA37, Q5XI65, Q5ZIH9, Q5ZIM6, Q6DFL5, Q6IEG0, Q6PBE2, Q6PII3, Q7SYB2, Q7ZXA8, Q80VN0, Q8C6C7, Q8C9J3, Q8CIL4, Q8IXW5, Q8R3N1, Q8R3N6, Q8VYD3, Q93VM9, Q95JM8

Diamond homologs: Q6IEG0, Q9D361

SIGNOR signaling

0 interactions.

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 46 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:

PathwayPartnersFoldFDR
Metabolism of non-coding RNA7143.3×2e-13
mRNA Splicing - Minor Pathway1286.7×2e-19
snRNP Assembly854.6×1e-11
SARS-CoV-2 modulates host translation machinery750.6×4e-10
mRNA Splicing1139.0×3e-14
CHD1 and CHD2 subfamily1138.6×3e-14
mRNA Polyadenylation1336.8×2e-16
RNA Polymerase II Transcription Termination535.4×1e-06

GO biological processes:

GO termPartnersFoldFDR
U2-type prespliceosome assembly10148.6×2e-18
spliceosomal snRNP assembly8110.7×1e-13
spliceosomal complex assembly686.0×1e-09
mRNA splicing, via spliceosome1634.9×4e-19
RNA splicing1429.4×6e-16
mRNA processing59.4×4e-03

Disease & clinical

Clinical variants and AI predictions

ClinVar

62 variants total. Per-class counts are floors (≥ shown; pagination cap):

ClassificationCount (floor)
Pathogenic0
Likely pathogenic0
Uncertain significance49
Likely benign1
Benign0

Top pathogenic / likely-pathogenic (0)

SpliceAI

1792 predictions. Top by Δscore:

VariantEffectΔscore
6:7590348:G:GTdonor_gain1.0000
6:7593722:T:TAacceptor_gain1.0000
6:7593731:T:Gacceptor_gain1.0000
6:7593731:TAGG:Tacceptor_loss1.0000
6:7593843:AAGAG:Adonor_loss1.0000
6:7593845:G:GTdonor_gain1.0000
6:7593845:GAG:Gdonor_gain1.0000
6:7593846:AGG:Adonor_loss1.0000
6:7593847:GGT:Gdonor_loss1.0000
6:7594155:TTTGA:Tdonor_gain1.0000
6:7594156:TTGA:Tdonor_gain1.0000
6:7594157:TGA:Tdonor_gain1.0000
6:7594157:TGAG:Tdonor_loss1.0000
6:7594158:GA:Gdonor_gain1.0000
6:7594158:GAG:Gdonor_gain1.0000
6:7594159:AGTA:Adonor_loss1.0000
6:7594160:G:Cdonor_loss1.0000
6:7594160:G:GGdonor_gain1.0000
6:7594161:T:Gdonor_loss1.0000
6:7594162:AA:Adonor_loss1.0000
6:7595023:ACAG:Aacceptor_loss1.0000
6:7595024:CA:Cacceptor_loss1.0000
6:7595025:A:AGacceptor_gain1.0000
6:7595025:A:Tacceptor_loss1.0000
6:7595026:G:GGacceptor_gain1.0000
6:7595026:GATAA:Gacceptor_gain1.0000
6:7595098:CAAAG:Cdonor_loss1.0000
6:7595100:AA:Adonor_gain1.0000
6:7595100:AAG:Adonor_loss1.0000
6:7595101:AGT:Adonor_loss1.0000

AlphaMissense

2260 scored. Top likely-pathogenic:

VariantProtein changeam_pathogenicity
6:7602686:G:CR220T1.000
6:7602687:A:CR220S1.000
6:7602687:A:TR220S1.000
6:7602689:G:CR221T1.000
6:7602690:A:CR221S1.000
6:7602690:A:TR221S1.000
6:7602705:A:CR226S1.000
6:7602705:A:TR226S1.000
6:7602664:G:CA213P0.999
6:7602674:G:CR216P0.999
6:7602676:G:CD217H0.999
6:7602678:T:AD217E0.999
6:7602678:T:GD217E0.999
6:7602684:A:CK219N0.999
6:7602684:A:TK219N0.999
6:7602686:G:TR220I0.999
6:7602688:A:GR221G0.999
6:7602689:G:TR221I0.999
6:7602691:C:AR222S0.999
6:7602700:T:CY225H0.999
6:7602700:T:GY225D0.999
6:7602703:A:GR226G0.999
6:7602704:G:CR226T0.999
6:7602707:C:AA227D0.999
6:7602711:G:CK228N0.999
6:7602711:G:TK228N0.999
6:7602716:T:AV230D0.999
6:7605405:G:CR242P0.999
6:7602677:A:CD217A0.998
6:7602677:A:TD217V0.998

dbSNP variants (sampled 300 via entrez): RS1000131141 (6:7602151 C>T), RS1000151217 (6:7590067 A>G), RS1000160496 (6:7602413 A>G), RS1000192638 (6:7597405 C>T), RS1000240935 (6:7601858 TG>T), RS1000313400 (6:7596241 G>A), RS1000409860 (6:7609431 T>G), RS1000454458 (6:7596498 T>A,C), RS1000601826 (6:7608429 C>T), RS1000844132 (6:7609685 A>G,T), RS1001154598 (6:7591008 G>A,C), RS1001221919 (6:7596114 A>T), RS1001352202 (6:7601812 C>G), RS1001454615 (6:7608836 G>T), RS1001483129 (6:7595775 G>A)

Disease associations

OMIM: gene `` | disease phenotypes: MIM:605676, MIM:607450

GenCC curated gene-disease

Mondo (2): arrhythmogenic cardiomyopathy with wooly hair and keratoderma (MONDO:0011581), arrhythmogenic right ventricular dysplasia 8 (MONDO:0011831)

Orphanet (1): Carvajal syndrome (Orphanet:65282)

HPO phenotypes

0 total (0 of 0 shown, HPO-id order):

GWAS associations

6 associations (top):

StudyTraitp-value
GCST001762_276Obesity-related traits9.000000e-06
GCST008839_581Height2.000000e-12
GCST009391_351Metabolite levels8.000000e-06
GCST009391_912Metabolite levels7.000000e-06
GCST012282_5BMI x environmental factors (excluding physical activity) interaction9.000000e-06
GCST012283_3BMI x environmental factors (including physical activity) interaction7.000000e-07

EFO canonical traits (11, from GWAS)

EFO IDTrait name
EFO:0005106body composition measurement
EFO:0010433triacylglycerol 56:6 measurement
EFO:0010442triacylglycerol 58:8 measurement
EFO:0004340body mass index
EFO:0006527smoking status measurement
EFO:0009374energy intake measurement
EFO:0009695household income
EFO:0010810protein intake measurement
EFO:0010811carbohydrate intake measurement
EFO:0011015educational attainment
EFO:0008002physical activity measurement

MeSH disease descriptors (2)

DescriptorNameTree numbers
C564400Arrhythmogenic Right Ventricular Dysplasia, Familial, 8 (supp.)
C535581Cardiomyopathy dilated with woolly hair and keratoderma (supp.)

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

PharmGKB: 1 entry (VIP=true, CPIC=false)

CTD chemical–gene interactions

19 total (human), top 19 by PubMed support.

ChemicalActions (top 5)PubMed papers
Valproic Aciddecreases expression, increases expression4
7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxidedecreases expression, increases expression2
Cyclosporinedecreases expression2
TAK-243increases sumoylation1
methylmercuric chlorideincreases expression1
trichostatin Aaffects expression1
arseniteaffects binding, increases reaction1
versicolorin Aincreases expression1
perfluorooctane sulfonic aciddecreases expression1
bisphenol AFincreases expression1
Bortezomibincreases expression1
Benzo(a)pyreneaffects methylation, decreases methylation1
Carbamazepineaffects expression1
Ethyl Methanesulfonateincreases expression1
Fluorouracildecreases expression1
Formaldehydeincreases expression1
Methyl Methanesulfonateincreases expression1
Tretinoindecreases expression1
Aflatoxin B1increases methylation1

Clinical trials (associated diseases)

0 trials via MONDO — disease-level, not drug-specific.