LSM3
gene geneOn this page
Also known as YLR438CSMX4USS2
Summary
LSM3 (LSM3 homolog, U6 small nuclear RNA and mRNA degradation associated, HGNC:17874) is a protein-coding gene on chromosome 3p25.1, encoding U6 snRNA-associated Sm-like protein LSm3 (P62310). Plays a role in pre-mRNA splicing as component of the U4/U6-U5 tri-snRNP complex that is involved in spliceosome assembly, and as component of the precatalytic spliceosome (spliceosome B complex). It is a common-essential gene (DepMap: required in 99.3% of cancer cell lines).
Sm-like proteins were identified in a variety of organisms based on sequence homology with the Sm protein family (see SNRPD2; MIM 601061). Sm-like proteins contain the Sm sequence motif, which consists of 2 regions separated by a linker of variable length that folds as a loop. The Sm-like proteins are thought to form a stable heteromer present in tri-snRNP particles, which are important for pre-mRNA splicing.
Source: NCBI Gene 27258 — RefSeq curated summary.
At a glance
- GWAS associations: 13
- Clinical variants (ClinVar): 21 total — 4 pathogenic
- Cancer dependency (DepMap): dependent in 99.3% of screened cell lines (common-essential)
- MANE Select transcript:
NM_014463
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:17874 |
| Approved symbol | LSM3 |
| Name | LSM3 homolog, U6 small nuclear RNA and mRNA degradation associated |
| Location | 3p25.1 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | YLR438C, SMX4, USS2 |
| Ensembl gene | ENSG00000170860 |
| Ensembl biotype | protein_coding |
| OMIM | 607283 |
| Entrez | 27258 |
Gene structure
Transcript identifiers
Ensembl transcripts: 3 — 3 protein_coding
ENST00000306024, ENST00000907170, ENST00000907171
RefSeq mRNA: 1 — MANE Select: NM_014463
NM_014463
CCDS: CCDS2619
Canonical transcript exons
ENST00000306024 — 4 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001132721 | 14198036 | 14201122 |
| ENSE00001132728 | 14181560 | 14181670 |
| ENSE00001160195 | 14183937 | 14184032 |
| ENSE00001160202 | 14178817 | 14178881 |
Expression profiles
Bgee: expression breadth ubiquitous, 294 present calls, max score 97.65.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 30.8277 / max 731.2733, expressed in 1804 samples.
FANTOM5 promoters (3 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 35445 | 27.2916 | 1803 |
| 35444 | 2.7126 | 1347 |
| 35443 | 0.8234 | 434 |
Top tissues by expression
294 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| biceps brachii | UBERON:0001507 | 97.65 | gold quality |
| skeletal muscle tissue of biceps brachii | UBERON:0004502 | 97.49 | gold quality |
| diaphragm | UBERON:0001103 | 97.47 | gold quality |
| heart right ventricle | UBERON:0002080 | 97.43 | gold quality |
| type B pancreatic cell | CL:0000169 | 97.01 | gold quality |
| oral cavity | UBERON:0000167 | 96.94 | gold quality |
| triceps brachii | UBERON:0001509 | 96.57 | gold quality |
| mucosa of sigmoid colon | UBERON:0004993 | 96.48 | gold quality |
| skeletal muscle tissue of rectus abdominis | UBERON:0004511 | 96.42 | gold quality |
| adult organism | UBERON:0007023 | 96.32 | gold quality |
| trabecular bone tissue | UBERON:0002483 | 96.25 | gold quality |
| gluteal muscle | UBERON:0002000 | 96.04 | gold quality |
| body of tongue | UBERON:0011876 | 96.03 | gold quality |
| corpus epididymis | UBERON:0004359 | 95.91 | gold quality |
| colonic mucosa | UBERON:0000317 | 95.76 | gold quality |
| pharyngeal mucosa | UBERON:0000355 | 95.69 | gold quality |
| seminal vesicle | UBERON:0000998 | 95.31 | gold quality |
| tongue | UBERON:0001723 | 95.28 | gold quality |
| synovial joint | UBERON:0002217 | 95.27 | gold quality |
| penis | UBERON:0000989 | 95.19 | gold quality |
| olfactory bulb | UBERON:0002264 | 95.18 | gold quality |
| male germ cell | CL:0000015 | 95.17 | gold quality |
| vena cava | UBERON:0004087 | 95.07 | gold quality |
| pigmented layer of retina | UBERON:0001782 | 95.04 | gold quality |
| renal medulla | UBERON:0000362 | 94.98 | gold quality |
| sperm | CL:0000019 | 94.96 | gold quality |
| tendon of biceps brachii | UBERON:0008188 | 94.90 | gold quality |
| mammalian vulva | UBERON:0000997 | 94.88 | gold quality |
| jejunum | UBERON:0002115 | 94.88 | gold quality |
| superior surface of tongue | UBERON:0007371 | 94.86 | gold quality |
Single-cell (SCXA)
Detected in 6 experiment(s), a significant marker in 3.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-HCAD-1 | yes | 41.79 |
| E-ANND-3 | yes | 12.93 |
| E-GEOD-93593 | yes | 8.92 |
| E-MTAB-10485 | no | 760.43 |
| E-MTAB-9388 | no | 727.55 |
| E-MTAB-6386 | no | 206.22 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
21 targeting LSM3, 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-3646 | 100.00 | 73.56 | 5283 |
| HSA-MIR-6833-3P | 100.00 | 70.63 | 3197 |
| HSA-MIR-4768-5P | 100.00 | 69.49 | 2861 |
| HSA-MIR-6758-5P | 100.00 | 66.21 | 1470 |
| HSA-MIR-4531 | 99.99 | 69.70 | 3181 |
| HSA-MIR-3662 | 99.99 | 73.82 | 5684 |
| HSA-MIR-6809-3P | 99.91 | 71.45 | 3814 |
| HSA-MIR-4698 | 99.84 | 71.41 | 4303 |
| HSA-MIR-587 | 99.64 | 70.86 | 2611 |
| HSA-MIR-889-3P | 99.40 | 69.76 | 2103 |
| HSA-MIR-5000-3P | 98.79 | 65.63 | 1251 |
| HSA-MIR-876-3P | 98.76 | 68.23 | 945 |
| HSA-MIR-323A-5P | 98.59 | 65.13 | 651 |
| HSA-MIR-4720-3P | 98.50 | 68.88 | 988 |
| HSA-MIR-6838-3P | 98.40 | 65.88 | 559 |
| HSA-MIR-4436A | 98.05 | 64.83 | 1140 |
| HSA-MIR-1279 | 97.83 | 67.50 | 1898 |
| HSA-MIR-4700-3P | 97.74 | 68.64 | 1014 |
| HSA-MIR-5579-3P | 97.00 | 68.81 | 1111 |
| HSA-MIR-675-3P | 95.77 | 69.27 | 675 |
| HSA-MIR-6763-3P | 90.80 | 64.32 | 80 |
Functional genomics
DepMap (CRISPR cell-line fitness): dependent in 99.3% of screened cell lines, common-essential.
Literature-anchored findings (GeneRIF, showing 1)
- LSm1-7 proteins colocalize with DCP1,DCP2 and Xrn1 in cytoplasmic foci (PMID:12515382)
Cross-species orthologs
5 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | lsm3 | ENSDARG00000089663 |
| mus_musculus | Lsm3 | ENSMUSG00000034192 |
| rattus_norvegicus | Lsm3 | ENSRNOG00000008733 |
| drosophila_melanogaster | LSm3 | FBGN0051184 |
| caenorhabditis_elegans | WBGENE00003077 |
Protein
Protein identifiers
U6 snRNA-associated Sm-like protein LSm3 — P62310 (reviewed: P62310)
All UniProt accessions (1): P62310
UniProt curated annotations — full annotation on UniProt →
Function. Plays a role in pre-mRNA splicing as component of the U4/U6-U5 tri-snRNP complex that is involved in spliceosome assembly, and as component of the precatalytic spliceosome (spliceosome B complex). The heptameric LSM2-8 complex binds specifically to the 3’-terminal U-tract of U6 snRNA.
Subunit / interactions. Component of the precatalytic spliceosome (spliceosome B complex). Component of the U4/U6-U5 tri-snRNP complex, a building block of the precatalytic spliceosome (spliceosome B complex). The U4/U6-U5 tri-snRNP complex is 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. LSM2, LSM3, LSM4, LSM5, LSM6, LSM7 and LSM8 form a heptameric, ring-shaped subcomplex (the LSM2-8 complex) that is part of the U4/U6-U5 tri-snRNP complex and the precatalytic spliceosome.
Subcellular location. Nucleus.
Similarity. Belongs to the snRNP Sm proteins family.
RefSeq proteins (1): NP_055278* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR001163 | Sm_dom_euk/arc | Domain |
| IPR010920 | LSM_dom_sf | Homologous_superfamily |
| IPR034105 | Lsm3 | Domain |
| IPR040002 | Sm-like_LSM3 | Family |
| IPR047575 | Sm | Domain |
Pfam: PF01423
UniProt features (4 total): initiator methionine 1, chain 1, domain 1, modified residue 1
Structure
Experimental structures (PDB)
20 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 8H6L | ELECTRON MICROSCOPY | 2.6 |
| 8H6K | ELECTRON MICROSCOPY | 2.7 |
| 6QW6 | ELECTRON MICROSCOPY | 2.92 |
| 8H6E | ELECTRON MICROSCOPY | 3.2 |
| 8H6J | ELECTRON MICROSCOPY | 3.25 |
| 6QX9 | ELECTRON MICROSCOPY | 3.28 |
| 6AHD | ELECTRON MICROSCOPY | 3.8 |
| 8QZS | ELECTRON MICROSCOPY | 4.1 |
| 8R09 | ELECTRON MICROSCOPY | 4.3 |
| 8R0B | ELECTRON MICROSCOPY | 4.4 |
| 5O9Z | ELECTRON MICROSCOPY | 4.5 |
| 8QO9 | ELECTRON MICROSCOPY | 5.29 |
| 6AH0 | ELECTRON MICROSCOPY | 5.7 |
| 8R0A | ELECTRON MICROSCOPY | 5.8 |
| 8R08 | ELECTRON MICROSCOPY | 6.1 |
| 8RM5 | ELECTRON MICROSCOPY | 6.9 |
| 3JCR | ELECTRON MICROSCOPY | 7 |
| 7ABG | ELECTRON MICROSCOPY | 7.8 |
| 9R8V | ELECTRON MICROSCOPY | 8.5 |
| 8QXD | ELECTRON MICROSCOPY | 9.6 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-P62310-F1 | 89.49 | 0.71 |
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 (1): 2
Function
Pathways and Gene Ontology
Reactome pathways
6 pathways
| ID | Pathway |
|---|---|
| R-HSA-430039 | mRNA decay by 5’ to 3’ exoribonuclease |
| R-HSA-72163 | mRNA Splicing - Major Pathway |
| R-HSA-429914 | Deadenylation-dependent mRNA decay |
| R-HSA-72172 | mRNA Splicing |
| R-HSA-72203 | Processing of Capped Intron-Containing Pre-mRNA |
| R-HSA-8953854 | Metabolism of RNA |
MSigDB gene sets: 203 (showing top):
GOBP_P_BODY_ASSEMBLY, GOBP_REGULATION_OF_MRNA_CATABOLIC_PROCESS, BASSO_B_LYMPHOCYTE_NETWORK, PAL_PRMT5_TARGETS_UP, MODULE_151, REACTOME_MRNA_DECAY_BY_5_TO_3_EXORIBONUCLEASE, GOBP_MACROMOLECULE_CATABOLIC_PROCESS, MORF_RAD21, MODULE_16, PUJANA_CHEK2_PCC_NETWORK, GOBP_POST_TRANSCRIPTIONAL_REGULATION_OF_GENE_EXPRESSION, MORF_SKP1A, MUELLER_PLURINET, GOBP_SPLICEOSOMAL_TRI_SNRNP_COMPLEX_ASSEMBLY, GOBP_REGULATION_OF_CATABOLIC_PROCESS
GO Biological Process (4): mRNA splicing, via spliceosome (GO:0000398), mRNA processing (GO:0006397), P-body assembly (GO:0033962), RNA splicing (GO:0008380)
GO Molecular Function (3): RNA binding (GO:0003723), U6 snRNA 3’-end binding (GO:0030629), protein binding (GO:0005515)
GO Cellular Component (13): P-body (GO:0000932), nucleus (GO:0005634), nucleoplasm (GO:0005654), spliceosomal complex (GO:0005681), U6 snRNP (GO:0005688), cytosol (GO:0005829), U4/U6 x U5 tri-snRNP complex (GO:0046540), U2-type precatalytic spliceosome (GO:0071005), precatalytic spliceosome (GO:0071011), catalytic step 2 spliceosome (GO:0071013), Lsm2-8 complex (GO:0120115), Lsm1-7-Pat1 complex (GO:1990726), ribonucleoprotein complex (GO:1990904)
Reactome top-level categories
Rollup of top-4 pathways:
| Category | Pathways |
|---|---|
| Metabolism of RNA | 2 |
| Deadenylation-dependent mRNA decay | 1 |
| mRNA Splicing | 1 |
| Processing of Capped Intron-Containing Pre-mRNA | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| RNA processing | 2 |
| cellular anatomical structure | 2 |
| U5 snRNP | 2 |
| spliceosomal complex | 2 |
| Sm-like protein family complex | 2 |
| RNA splicing, via transesterification reactions with bulged adenosine as nucleophile | 1 |
| mRNA processing | 1 |
| mRNA metabolic process | 1 |
| membraneless organelle assembly | 1 |
| nucleic acid binding | 1 |
| U6 snRNA binding | 1 |
| binding | 1 |
| cytoplasmic ribonucleoprotein granule | 1 |
| intracellular membrane-bounded organelle | 1 |
| nuclear lumen | 1 |
| nuclear protein-containing complex | 1 |
| ribonucleoprotein complex | 1 |
| spliceosomal snRNP complex | 1 |
| Lsm2-8 complex | 1 |
| cytoplasm | 1 |
| U4/U6 snRNP | 1 |
| spliceosomal tri-snRNP complex | 1 |
| U2-type spliceosomal complex | 1 |
| U1 snRNP | 1 |
| U2 snRNP | 1 |
| U4/U6 x U5 tri-snRNP complex | 1 |
| precatalytic spliceosome | 1 |
| Prp19 complex | 1 |
| catalytic complex | 1 |
| protein-containing complex | 1 |
Protein interactions and networks
STRING
2162 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| LSM3 | LSM2 | Q9Y333 | 999 |
| LSM3 | LSM4 | Q9Y4Z0 | 998 |
| LSM3 | LSM6 | P62312 | 997 |
| LSM3 | LSM7 | Q9UK45 | 996 |
| LSM3 | LSM8 | O95777 | 993 |
| LSM3 | LSM5 | Q9Y4Y9 | 991 |
| LSM3 | LSM1 | O15116 | 986 |
| LSM3 | XRN1 | Q8IZH2 | 921 |
| LSM3 | SNRPF | P62306 | 715 |
| LSM3 | SNRPD1 | P13641 | 665 |
| LSM3 | SNRPE | P08578 | 665 |
| LSM3 | SNRPD3 | P43331 | 625 |
| LSM3 | EDC3 | Q96F86 | 619 |
| LSM3 | LSM12 | Q3MHD2 | 616 |
| LSM3 | DCP2 | Q8IU60 | 561 |
IntAct
246 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| LSM2 | LSM3 | psi-mi:“MI:0915”(physical association) | 0.980 |
| LSM3 | LSM2 | psi-mi:“MI:0915”(physical association) | 0.980 |
| LSM3 | LSM2 | psi-mi:“MI:2364”(proximity) | 0.980 |
BioGRID (217): LSM3 (Two-hybrid), LSM3 (Two-hybrid), LSM3 (Two-hybrid), LSM3 (Two-hybrid), LSM3 (Two-hybrid), LSM2 (Two-hybrid), LSM3 (Two-hybrid), LSM2 (Two-hybrid), LSM10 (Two-hybrid), LSM3 (Two-hybrid), LSM1 (Co-fractionation), LSM3 (Co-fractionation), LSM3 (Co-fractionation), LSM3 (Co-fractionation), LSM3 (Co-fractionation)
ESM2 similar proteins: A5GFZ5, A8MWD9, C9WPN6, O35900, O60762, O70152, P02362, P50894, P62084, P62306, P62307, P62308, P62309, P62310, P62311, P62314, P62315, P62318, P62320, P62321, P62323, P62487, P62488, P62489, P82931, Q16576, Q1JQ93, Q24572, Q2TBV5, Q2VIR3, Q32PE9, Q3SWX8, Q3T0Z8, Q3ZBL0, Q3ZC10, Q4R304, Q4R5F6, Q5E9B8, Q5ZMS3, Q60973
Diamond homologs: A5DRQ6, A8NHT8, B0DWN3, B6YUU5, C5A1H1, C6A1T2, O22823, O26745, O29386, O42978, O59734, O74016, O74966, P34659, P40089, P57670, P62306, P62307, P62310, P62311, P62312, P62313, P62321, Q0W8R9, Q12U30, Q1DRN0, Q1ZXK3, Q24297, Q32PE9, Q3T0Z8, Q465S1, Q4PG71, Q552U1, Q5JIE0, Q6BR90, Q8PZZ9, Q8TL47, Q8U0P4, Q97BU5, Q9C6K5
SIGNOR signaling
1 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| LSM3 | “form complex” | “U4/U6.U5 snRNP complex” | binding |
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 58 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 |
|---|---|---|---|
| mRNA decay by 5’ to 3’ exoribonuclease | 5 | 95.2× | 7e-08 |
| snRNP Assembly | 5 | 26.4× | 4e-05 |
| mRNA Splicing | 9 | 24.7× | 1e-08 |
| Processing of Capped Intron-Containing Pre-mRNA | 9 | 18.5× | 6e-08 |
| mRNA Splicing - Major Pathway | 11 | 15.0× | 1e-08 |
| Metabolism of RNA | 14 | 14.6× | 7e-11 |
| Viral Infection Pathways | 7 | 5.4× | 7e-03 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| spliceosomal snRNP assembly | 6 | 68.4× | 5e-08 |
| mRNA splicing, via spliceosome | 13 | 23.4× | 3e-12 |
| RNA splicing | 8 | 13.8× | 1e-05 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
21 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 4 |
| Likely pathogenic | 0 |
| Uncertain significance | 11 |
| Likely benign | 0 |
| Benign | 2 |
Top pathogenic / likely-pathogenic (4)
| Variant ID | HGVS | Classification |
|---|---|---|
| 1071711 | NC_000003.11:g.(?14166684)(14220439_?)del | Pathogenic |
| 1458454 | NC_000003.11:g.(?14206303)(14220439_?)del | Pathogenic |
| 2425188 | NC_000003.11:g.(?14214357)(14220439_?)del | Pathogenic |
| 831828 | NC_000003.12:g.(?14170428)(14178939_?)del | Pathogenic |
SpliceAI
355 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 3:14181555:A:AG | acceptor_gain | 1.0000 |
| 3:14181557:CAGC:C | acceptor_loss | 1.0000 |
| 3:14181558:A:AG | acceptor_gain | 1.0000 |
| 3:14181559:G:A | acceptor_loss | 1.0000 |
| 3:14181559:G:GA | acceptor_gain | 1.0000 |
| 3:14181559:GC:G | acceptor_gain | 1.0000 |
| 3:14181559:GCA:G | acceptor_gain | 1.0000 |
| 3:14181559:GCAA:G | acceptor_gain | 1.0000 |
| 3:14181559:GCAAC:G | acceptor_gain | 1.0000 |
| 3:14181666:TACAT:T | donor_gain | 1.0000 |
| 3:14181667:ACAT:A | donor_gain | 1.0000 |
| 3:14181668:CAT:C | donor_gain | 1.0000 |
| 3:14181669:AT:A | donor_gain | 1.0000 |
| 3:14181669:ATG:A | donor_loss | 1.0000 |
| 3:14181670:TG:T | donor_loss | 1.0000 |
| 3:14181671:G:GA | donor_loss | 1.0000 |
| 3:14181671:G:GG | donor_gain | 1.0000 |
| 3:14181672:TAAG:T | donor_loss | 1.0000 |
| 3:14181675:G:GG | donor_gain | 1.0000 |
| 3:14183930:A:AG | acceptor_gain | 1.0000 |
| 3:14183931:C:G | acceptor_gain | 1.0000 |
| 3:14183931:CTTTA:C | acceptor_loss | 1.0000 |
| 3:14183932:TTTA:T | acceptor_loss | 1.0000 |
| 3:14183933:TTAGG:T | acceptor_loss | 1.0000 |
| 3:14183934:TAGG:T | acceptor_loss | 1.0000 |
| 3:14183935:A:AG | acceptor_gain | 1.0000 |
| 3:14183935:AG:A | acceptor_gain | 1.0000 |
| 3:14183935:AGG:A | acceptor_loss | 1.0000 |
| 3:14183936:G:A | acceptor_loss | 1.0000 |
| 3:14183936:G:GA | acceptor_gain | 1.0000 |
AlphaMissense
659 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 3:14181588:C:A | P17H | 1.000 |
| 3:14181591:T:C | L18P | 1.000 |
| 3:14181594:A:T | D19V | 1.000 |
| 3:14181597:T:C | L20P | 1.000 |
| 3:14181606:T:C | L23P | 1.000 |
| 3:14181630:T:A | V31E | 1.000 |
| 3:14181639:G:C | R34T | 1.000 |
| 3:14181640:A:C | R34S | 1.000 |
| 3:14181640:A:T | R34S | 1.000 |
| 3:14181648:G:C | R37P | 1.000 |
| 3:14181654:T:A | L39H | 1.000 |
| 3:14181654:T:C | L39P | 1.000 |
| 3:14181659:G:A | G41S | 1.000 |
| 3:14181659:G:C | G41R | 1.000 |
| 3:14181659:G:T | G41C | 1.000 |
| 3:14181660:G:A | G41D | 1.000 |
| 3:14181660:G:T | G41V | 1.000 |
| 3:14181666:T:C | L43S | 1.000 |
| 3:14183937:G:C | A45P | 1.000 |
| 3:14183938:C:A | A45D | 1.000 |
| 3:14183943:G:A | D47N | 1.000 |
| 3:14183943:G:C | D47H | 1.000 |
| 3:14183943:G:T | D47Y | 1.000 |
| 3:14183944:A:C | D47A | 1.000 |
| 3:14183944:A:G | D47G | 1.000 |
| 3:14183944:A:T | D47V | 1.000 |
| 3:14183945:T:A | D47E | 1.000 |
| 3:14183945:T:G | D47E | 1.000 |
| 3:14183949:C:G | H49D | 1.000 |
| 3:14183950:A:G | H49R | 1.000 |
dbSNP variants (sampled 300 via entrez): RS1000060401 (3:14197287 T>C,G), RS1000122809 (3:14192176 T>C), RS1000153986 (3:14192036 T>G), RS1000390228 (3:14197545 A>G), RS1000409652 (3:14179791 A>G), RS1000680819 (3:14198783 G>A,T), RS1000719173 (3:14197836 T>C), RS1000720435 (3:14192159 T>C), RS1000890686 (3:14181210 A>G), RS1001077457 (3:14187757 C>T), RS1001400761 (3:14188047 G>A,T), RS1001418324 (3:14181175 G>A,C), RS1001737149 (3:14200413 G>A), RS1001989049 (3:14196318 C>A), RS1002075069 (3:14185142 G>A)
Disease associations
OMIM: gene MIM:607283 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
13 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST007576_265 | Chronotype | 3.000000e-10 |
| GCST008363_31 | Offspring birth weight | 2.000000e-10 |
| GCST008839_424 | Height | 2.000000e-09 |
| GCST010320_106 | PR interval | 2.000000e-17 |
| GCST010321_199 | PR interval | 2.000000e-19 |
| GCST010796_1637 | Electrocardiogram morphology (amplitude at temporal datapoints) | 2.000000e-15 |
| GCST010796_1638 | Electrocardiogram morphology (amplitude at temporal datapoints) | 7.000000e-10 |
| GCST010796_1639 | Electrocardiogram morphology (amplitude at temporal datapoints) | 6.000000e-12 |
| GCST010796_1640 | Electrocardiogram morphology (amplitude at temporal datapoints) | 1.000000e-13 |
| GCST010796_1641 | Electrocardiogram morphology (amplitude at temporal datapoints) | 3.000000e-15 |
| GCST011202_5 | Dilated cardiomyopathy (MTAG) | 9.000000e-09 |
| GCST012211_1 | Dilated cardiomyopathy | 5.000000e-13 |
| GCST90002403_130 | Red blood cell count | 4.000000e-09 |
EFO canonical traits (6, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0008328 | chronotype measurement |
| EFO:0004344 | birth weight |
| EFO:0005939 | parental genotype effect measurement |
| EFO:0004462 | PR interval |
| EFO:0004327 | electrocardiography |
| EFO:0004305 | erythrocyte count |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
PharmGKB variants
1 variants.
| Variant | Genes | Level | Score | #Clin annots | Drugs |
|---|---|---|---|---|---|
| rs1870134 | LSM3, XPC | 0.00 | 0 |
CTD chemical–gene interactions
30 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| sodium arsenite | increases abundance, increases expression | 3 |
| bisphenol A | affects expression, decreases expression | 2 |
| (+)-JQ1 compound | decreases expression | 2 |
| Air Pollutants | decreases expression, increases abundance | 2 |
| methylmercuric chloride | decreases expression | 1 |
| triphenyl phosphate | affects expression | 1 |
| deoxynivalenol | increases expression | 1 |
| arsenite | affects binding, increases reaction | 1 |
| tris(1,3-dichloro-2-propyl)phosphate | decreases expression | 1 |
| cobaltous chloride | decreases expression | 1 |
| M-VAC protocol | increases response to substance | 1 |
| yessotoxin | decreases expression | 1 |
| CGP 52608 | affects binding, increases reaction | 1 |
| CD 437 | decreases expression | 1 |
| K 7174 | decreases expression | 1 |
| 3-(4’-hydroxy-3’-adamantylbiphenyl-4-yl)acrylic acid | decreases expression | 1 |
| ICG 001 | decreases expression | 1 |
| PP242 | increases expression | 1 |
| Arsenic | increases abundance, increases expression | 1 |
| Benzo(a)pyrene | increases methylation | 1 |
| Coal | decreases expression, increases abundance | 1 |
| Ivermectin | decreases expression | 1 |
| Phenobarbital | affects expression | 1 |
| Ribonucleotides | affects binding | 1 |
| Smoke | decreases expression, increases abundance | 1 |
| Cyclosporine | affects expression | 1 |
| Copper Sulfate | decreases expression | 1 |
| Lactic Acid | decreases expression | 1 |
| Acrylamide | increases expression | 1 |
| Particulate Matter | increases abundance, decreases expression | 1 |
Clinical trials (associated diseases)
0 trials via MONDO — disease-level, not drug-specific.
Related Atlas pages
No linked Atlas pages yet — the cross-entity mesh grows as the corpus expands.