LSM8
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Also known as YJR022W
Summary
LSM8 (LSM8 homolog, U6 small nuclear RNA associated, HGNC:20471) is a protein-coding gene on chromosome 7q31.31, encoding U6 snRNA-associated Sm-like protein LSm8 (O95777). 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 99.7% of cancer cell lines).
This gene encodes a member of the like-Sm family of proteins. The encoded protein consists of a closed barrel shape, made up of five anti-parallel beta strands and an alpha helix. This protein partners with six paralogs to form a heteroheptameric ring which transiently binds U6 small nuclear RNAs and is involved in the general maturation of RNA in the nucleus.
Source: NCBI Gene 51691 — RefSeq curated summary.
At a glance
- GWAS associations: 13
- Clinical variants (ClinVar): 7 total
- Druggable target: yes
- Cancer dependency (DepMap): dependent in 99.7% of screened cell lines (common-essential)
- MANE Select transcript:
NM_016200
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:20471 |
| Approved symbol | LSM8 |
| Name | LSM8 homolog, U6 small nuclear RNA associated |
| Location | 7q31.31 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | YJR022W |
| Ensembl gene | ENSG00000128534 |
| Ensembl biotype | protein_coding |
| OMIM | 607288 |
| Entrez | 51691 |
Gene structure
Transcript identifiers
Ensembl transcripts: 6 — 6 protein_coding
ENST00000249299, ENST00000411938, ENST00000422760, ENST00000424702, ENST00000915332, ENST00000915333
RefSeq mRNA: 1 — MANE Select: NM_016200
NM_016200
CCDS: CCDS5775
Canonical transcript exons
ENST00000249299 — 4 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001018687 | 118185654 | 118185694 |
| ENSE00001129736 | 118184164 | 118184254 |
| ENSE00001217918 | 118191912 | 118204035 |
| ENSE00003785688 | 118188278 | 118188405 |
Expression profiles
Bgee: expression breadth ubiquitous, 280 present calls, max score 93.97.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 82.2435 / max 839.3366, expressed in 1827 samples.
FANTOM5 promoters (3 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 80732 | 50.3253 | 1824 |
| 80731 | 31.8865 | 1822 |
| 80733 | 0.0317 | 5 |
Top tissues by expression
288 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| calcaneal tendon | UBERON:0003701 | 93.97 | gold quality |
| colonic epithelium | UBERON:0000397 | 92.01 | gold quality |
| heart right ventricle | UBERON:0002080 | 91.89 | gold quality |
| ventricular zone | UBERON:0003053 | 91.43 | gold quality |
| monocyte | CL:0000576 | 91.23 | gold quality |
| bone marrow | UBERON:0002371 | 91.23 | gold quality |
| leukocyte | CL:0000738 | 91.16 | gold quality |
| mononuclear cell | CL:0000842 | 91.16 | gold quality |
| bone marrow cell | CL:0002092 | 90.90 | gold quality |
| upper leg skin | UBERON:0004262 | 90.79 | gold quality |
| granulocyte | CL:0000094 | 90.74 | gold quality |
| oocyte | CL:0000023 | 90.41 | gold quality |
| skeletal muscle tissue of biceps brachii | UBERON:0004502 | 90.20 | gold quality |
| cartilage tissue | UBERON:0002418 | 90.15 | gold quality |
| corpus epididymis | UBERON:0004359 | 90.07 | gold quality |
| embryo | UBERON:0000922 | 90.02 | gold quality |
| ganglionic eminence | UBERON:0004023 | 89.87 | gold quality |
| olfactory segment of nasal mucosa | UBERON:0005386 | 89.55 | gold quality |
| hindlimb stylopod muscle | UBERON:0004252 | 89.47 | gold quality |
| blood vessel layer | UBERON:0004797 | 89.46 | gold quality |
| tendon | UBERON:0000043 | 89.28 | gold quality |
| mucosa of sigmoid colon | UBERON:0004993 | 89.27 | gold quality |
| bone element | UBERON:0001474 | 88.89 | gold quality |
| vermiform appendix | UBERON:0001154 | 88.66 | gold quality |
| male germ line stem cell (sensu Vertebrata) in testis | CL:0000089 ∩ UBERON:0000473 | 88.52 | gold quality |
| oral cavity | UBERON:0000167 | 88.49 | gold quality |
| skin of hip | UBERON:0001554 | 88.34 | gold quality |
| colonic mucosa | UBERON:0000317 | 88.25 | gold quality |
| adrenal tissue | UBERON:0018303 | 88.22 | gold quality |
| seminal vesicle | UBERON:0000998 | 87.82 | gold quality |
Single-cell (SCXA)
Detected in 2 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 7.77 |
| E-MTAB-6386 | no | 291.18 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
426 targeting LSM8, 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-5692A | 100.00 | 74.40 | 6850 |
| HSA-MIR-3163 | 100.00 | 77.23 | 8605 |
| HSA-MIR-340-5P | 100.00 | 72.50 | 4437 |
| HSA-MIR-3646 | 100.00 | 73.56 | 5283 |
| HSA-MIR-3613-3P | 100.00 | 76.36 | 7965 |
| HSA-MIR-518D-5P | 100.00 | 67.51 | 979 |
| HSA-MIR-518E-5P | 100.00 | 67.66 | 954 |
| HSA-MIR-518F-5P | 100.00 | 67.51 | 979 |
| HSA-MIR-519A-5P | 100.00 | 67.66 | 954 |
| HSA-MIR-519B-5P | 100.00 | 67.66 | 954 |
| HSA-MIR-519C-5P | 100.00 | 67.66 | 954 |
| HSA-MIR-520C-5P | 100.00 | 67.51 | 979 |
| HSA-MIR-522-5P | 100.00 | 67.66 | 954 |
| HSA-MIR-523-5P | 100.00 | 67.66 | 954 |
| HSA-MIR-526A-5P | 100.00 | 67.51 | 979 |
| HSA-LET-7A-3P | 100.00 | 74.03 | 3932 |
| HSA-LET-7B-3P | 100.00 | 74.08 | 3913 |
| HSA-LET-7F-1-3P | 100.00 | 74.02 | 3928 |
| HSA-MIR-98-3P | 100.00 | 74.08 | 3907 |
| HSA-MIR-656-3P | 100.00 | 72.15 | 2788 |
| HSA-MIR-5692B | 100.00 | 71.32 | 2622 |
| HSA-MIR-5692C | 100.00 | 71.32 | 2622 |
| HSA-MIR-6833-3P | 100.00 | 70.63 | 3197 |
| HSA-MIR-1277-5P | 100.00 | 73.95 | 5056 |
| HSA-MIR-1252-5P | 100.00 | 69.80 | 2774 |
| HSA-MIR-574-5P | 100.00 | 66.01 | 989 |
| HSA-MIR-450A-1-3P | 100.00 | 69.33 | 1837 |
| HSA-MIR-429 | 100.00 | 73.44 | 2698 |
| HSA-MIR-513A-5P | 100.00 | 69.77 | 2465 |
| HSA-MIR-4668-3P | 100.00 | 68.74 | 2635 |
Functional genomics
DepMap (CRISPR cell-line fitness): dependent in 99.7% of screened cell lines, common-essential.
Literature-anchored findings (GeneRIF, showing 1)
- LSm8 controls nuclear accumulation of all LSm2-7 proteins and the number of cytoplasmic processing bodies. (PMID:22875987)
Cross-species orthologs
5 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | lsm8 | ENSDARG00000091656 |
| mus_musculus | Lsm8 | ENSMUSG00000044155 |
| rattus_norvegicus | Lsm8 | ENSRNOG00000070946 |
| drosophila_melanogaster | CG2021 | FBGN0035271 |
| caenorhabditis_elegans | WBGENE00003082 |
Paralogs (1): LSM1 (ENSG00000175324)
Protein
Protein identifiers
U6 snRNA-associated Sm-like protein LSm8 — O95777 (reviewed: O95777)
All UniProt accessions (5): O95777, A4D0W0, C9JIZ0, C9JNV3, F2Z2Y6
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_057284* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR001163 | Sm_dom_euk/arc | Domain |
| IPR010920 | LSM_dom_sf | Homologous_superfamily |
| IPR034103 | Lsm8 | Domain |
| IPR044642 | PTHR15588 | 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-O95777-F1 | 95.53 | 0.94 |
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
4 pathways
| ID | Pathway |
|---|---|
| R-HSA-72163 | mRNA Splicing - Major Pathway |
| R-HSA-72172 | mRNA Splicing |
| R-HSA-72203 | Processing of Capped Intron-Containing Pre-mRNA |
| R-HSA-8953854 | Metabolism of RNA |
MSigDB gene sets: 161 (showing top):
TGCGCANK_UNKNOWN, MIDORIKAWA_AMPLIFIED_IN_LIVER_CANCER, GOBP_SPLICEOSOMAL_TRI_SNRNP_COMPLEX_ASSEMBLY, REACTOME_PROCESSING_OF_CAPPED_INTRON_CONTAINING_PRE_MRNA, GNF2_FBL, GOBP_PROTEIN_RNA_COMPLEX_ORGANIZATION, GOBP_RNA_SPLICING, YAO_TEMPORAL_RESPONSE_TO_PROGESTERONE_CLUSTER_13, REACTOME_MRNA_SPLICING, DODD_NASOPHARYNGEAL_CARCINOMA_UP, BASAKI_YBX1_TARGETS_DN, SCHLINGEMANN_SKIN_CARCINOGENESIS_TPA_UP, DANG_BOUND_BY_MYC, RIGGI_EWING_SARCOMA_PROGENITOR_UP, GOBP_RIBONUCLEOPROTEIN_COMPLEX_BIOGENESIS
GO Biological Process (3): mRNA splicing, via spliceosome (GO:0000398), mRNA processing (GO:0006397), RNA splicing (GO:0008380)
GO Molecular Function (4): RNA binding (GO:0003723), mRNA binding (GO:0003729), U6 snRNA binding (GO:0017070), protein binding (GO:0005515)
GO Cellular Component (9): nucleus (GO:0005634), nucleoplasm (GO:0005654), spliceosomal complex (GO:0005681), U6 snRNP (GO:0005688), U4/U6 x U5 tri-snRNP complex (GO:0046540), U2-type precatalytic spliceosome (GO:0071005), precatalytic spliceosome (GO:0071011), Lsm2-8 complex (GO:0120115), ribonucleoprotein complex (GO:1990904)
Reactome top-level categories
Rollup of top-3 pathways:
| Category | Pathways |
|---|---|
| mRNA Splicing | 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 |
| RNA splicing, via transesterification reactions with bulged adenosine as nucleophile | 1 |
| mRNA processing | 1 |
| mRNA metabolic process | 1 |
| nucleic acid binding | 1 |
| RNA binding | 1 |
| snRNA binding | 1 |
| binding | 1 |
| intracellular membrane-bounded organelle | 1 |
| nuclear lumen | 1 |
| cellular anatomical structure | 1 |
| nuclear protein-containing complex | 1 |
| ribonucleoprotein complex | 1 |
| spliceosomal snRNP complex | 1 |
| Lsm2-8 complex | 1 |
| U5 snRNP | 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 |
| spliceosomal complex | 1 |
| Sm-like protein family complex | 1 |
| protein-containing complex | 1 |
Protein interactions and networks
STRING
2216 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| LSM8 | LSM2 | Q9Y333 | 999 |
| LSM8 | LSM3 | P62310 | 993 |
| LSM8 | LSM4 | Q9Y4Z0 | 993 |
| LSM8 | LSM7 | Q9UK45 | 990 |
| LSM8 | LSM6 | P62312 | 986 |
| LSM8 | LSM5 | Q9Y4Y9 | 984 |
| LSM8 | XRN1 | Q8IZH2 | 922 |
| LSM8 | SNRPD2 | P43330 | 871 |
| LSM8 | SNRPE | P08578 | 713 |
| LSM8 | SNRPD1 | P13641 | 713 |
| LSM8 | SNRPD3 | P43331 | 710 |
| LSM8 | USB1 | Q9BQ65 | 690 |
| LSM8 | LSM1 | O15116 | 618 |
| LSM8 | SART3 | Q15020 | 617 |
| LSM8 | EXOSC6 | Q5RKV6 | 593 |
IntAct
173 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| LSM3 | LSM1 | psi-mi:“MI:0914”(association) | 0.950 |
| PRPF4 | PPIH | psi-mi:“MI:0914”(association) | 0.910 |
| LSM2 | LSM8 | psi-mi:“MI:0915”(physical association) | 0.790 |
| LSM3 | LSM8 | psi-mi:“MI:0915”(physical association) | 0.780 |
| SART3 | PRPF4 | psi-mi:“MI:0914”(association) | 0.730 |
| SNRPB | PRMT5 | psi-mi:“MI:0914”(association) | 0.670 |
| LSM5 | LSM1 | psi-mi:“MI:0914”(association) | 0.640 |
| DCTN1 | LSM8 | psi-mi:“MI:0915”(physical association) | 0.560 |
| LSM8 | psi-mi:“MI:0915”(physical association) | 0.560 | |
| LSM8 | psi-mi:“MI:0915”(physical association) | 0.560 | |
| PRKN | LSM8 | psi-mi:“MI:0915”(physical association) | 0.560 |
| LSM8 | PMP22 | psi-mi:“MI:0915”(physical association) | 0.560 |
| UCHL1 | LSM8 | psi-mi:“MI:0915”(physical association) | 0.560 |
| LSM8 | SOD1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| LSM8 | SNCA | psi-mi:“MI:0915”(physical association) | 0.560 |
| LSM8 | HTT | psi-mi:“MI:0915”(physical association) | 0.560 |
| LSM8 | TARDBP | psi-mi:“MI:0915”(physical association) | 0.560 |
BioGRID (152): LSM8 (Two-hybrid), PGD (Two-hybrid), LSM8 (Two-hybrid), IGHMBP2 (Two-hybrid), SNRPD1 (Two-hybrid), LSM8 (Affinity Capture-MS), LSM8 (Affinity Capture-MS), LSM8 (Affinity Capture-MS), LSM8 (Affinity Capture-MS), LSM8 (Affinity Capture-MS), LSM8 (Affinity Capture-MS), LSM8 (Affinity Capture-MS), GTF2I (Two-hybrid), LSM8 (Affinity Capture-MS), LSM8 (Affinity Capture-MS)
ESM2 similar proteins: A1CE19, A1DM27, A4RQ29, A5DRQ6, A6R363, A6S5C9, A7F5M4, A7UXE4, A8NHT8, B0DWN3, C5A1H1, O22823, O26745, O43080, O59734, O74966, O82221, O95777, P0CR24, P0CR25, P24715, P34659, P38203, P54999, P57743, P62312, P62313, Q0UWI9, Q0W8R9, Q12U30, Q1DRN0, Q24297, Q2HAN0, Q3ZCE0, Q465S1, Q4PG71, Q4WNI0, Q54RX0, Q54XP2, Q5RCP3
Diamond homologs: A2BIG9, A4IGZ4, O43080, O95777, P91918, Q10163, Q3ZCE0, Q55A45, Q5RCP3, Q6GQ67, Q6NU60, Q6ZWM4, Q8IPZ7, Q9BRA0, Q9D2U5, O15116, O74483, O74966, O82221, P24715, P47017, P87173, Q1ZXD5, Q54W83, Q5E9Z8, Q8LFL8, Q8VC85, Q8VYI0, Q945P8, Q9VXE0, O74499, P14678, P17136, P27048, P40018, P47093, P53905, P62308, P62309, P63162
SIGNOR signaling
1 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| LSM8 | “form complex” | “U4/U6.U5 snRNP complex” | binding |
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 94 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 | 8 | 85.8× | 8e-13 |
| Metabolism of non-coding RNA | 6 | 53.6× | 3e-08 |
| mRNA Splicing - Minor Pathway | 7 | 22.1× | 8e-07 |
| mRNA Splicing | 14 | 21.6× | 2e-13 |
| snRNP Assembly | 7 | 20.9× | 1e-06 |
| SARS-CoV-2 modulates host translation machinery | 6 | 18.9× | 1e-05 |
| mRNA Splicing - Major Pathway | 22 | 16.9× | 3e-19 |
| Processing of Capped Intron-Containing Pre-mRNA | 14 | 16.2× | 6e-12 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| spliceosomal snRNP assembly | 10 | 68.4× | 4e-14 |
| RNA splicing, via transesterification reactions | 5 | 36.7× | 2e-05 |
| U2-type prespliceosome assembly | 5 | 36.7× | 2e-05 |
| spliceosomal complex assembly | 5 | 35.4× | 2e-05 |
| mRNA splicing, via spliceosome | 22 | 23.7× | 9e-22 |
| RNA splicing | 16 | 16.6× | 3e-13 |
| protein deubiquitination | 5 | 10.4× | 6e-03 |
| mRNA processing | 8 | 7.4× | 8e-04 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
7 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 0 |
| Likely benign | 0 |
| Benign | 1 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
961 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 7:118188404:GT:G | donor_gain | 1.0000 |
| 7:118188406:G:GG | donor_gain | 1.0000 |
| 7:118191910:A:AG | acceptor_gain | 1.0000 |
| 7:118191911:G:GA | acceptor_gain | 1.0000 |
| 7:118191911:GT:G | acceptor_gain | 1.0000 |
| 7:118191911:GTGCA:G | acceptor_gain | 1.0000 |
| 7:118184277:GGGC:G | donor_gain | 0.9900 |
| 7:118184278:G:GT | donor_gain | 0.9900 |
| 7:118184278:GGC:G | donor_gain | 0.9900 |
| 7:118184279:GC:G | donor_gain | 0.9900 |
| 7:118184279:GCG:G | donor_gain | 0.9900 |
| 7:118184281:G:GG | donor_gain | 0.9900 |
| 7:118184323:G:T | donor_gain | 0.9900 |
| 7:118185031:G:GG | donor_gain | 0.9900 |
| 7:118185065:GCC:G | donor_gain | 0.9900 |
| 7:118185645:A:AG | acceptor_gain | 0.9900 |
| 7:118185646:G:GG | acceptor_gain | 0.9900 |
| 7:118188276:A:AG | acceptor_gain | 0.9900 |
| 7:118188276:A:T | acceptor_loss | 0.9900 |
| 7:118188276:AG:A | acceptor_gain | 0.9900 |
| 7:118188276:AGG:A | acceptor_gain | 0.9900 |
| 7:118188277:G:GG | acceptor_gain | 0.9900 |
| 7:118188277:GG:G | acceptor_gain | 0.9900 |
| 7:118188277:GGG:G | acceptor_gain | 0.9900 |
| 7:118188277:GGGA:G | acceptor_gain | 0.9900 |
| 7:118188356:G:GT | donor_gain | 0.9900 |
| 7:118188370:G:GA | donor_gain | 0.9900 |
| 7:118188397:TGACA:T | donor_gain | 0.9900 |
| 7:118188399:ACAAC:A | donor_gain | 0.9900 |
| 7:118188402:ACGT:A | donor_gain | 0.9900 |
AlphaMissense
615 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 7:118188279:G:A | G25E | 1.000 |
| 7:118185660:T:A | V13D | 0.999 |
| 7:118188278:G:A | G25R | 0.999 |
| 7:118188278:G:C | G25R | 0.999 |
| 7:118188290:G:C | G29R | 0.999 |
| 7:118188310:T:A | N35K | 0.999 |
| 7:118188310:T:G | N35K | 0.999 |
| 7:118188326:A:C | S41R | 0.999 |
| 7:118188328:C:A | S41R | 0.999 |
| 7:118188328:C:G | S41R | 0.999 |
| 7:118188378:G:A | G58E | 0.999 |
| 7:118188393:G:T | R63I | 0.999 |
| 7:118188395:G:C | G64R | 0.999 |
| 7:118188396:G:A | G64D | 0.999 |
| 7:118188396:G:T | G64V | 0.999 |
| 7:118185666:T:A | V15D | 0.998 |
| 7:118185680:G:T | G20W | 0.998 |
| 7:118185681:G:A | G20E | 0.998 |
| 7:118185681:G:T | G20V | 0.998 |
| 7:118188279:G:T | G25V | 0.998 |
| 7:118188285:T:C | L27P | 0.998 |
| 7:118188297:A:T | D31V | 0.998 |
| 7:118188298:C:A | D31E | 0.998 |
| 7:118188298:C:G | D31E | 0.998 |
| 7:118188315:T:A | I37N | 0.998 |
| 7:118188318:T:C | L38S | 0.998 |
| 7:118188336:G:C | R44P | 0.998 |
| 7:118188377:G:A | G58R | 0.998 |
| 7:118188377:G:C | G58R | 0.998 |
| 7:118188378:G:T | G58V | 0.998 |
dbSNP variants (sampled 300 via entrez): RS1000164092 (7:118190534 T>C), RS1000217694 (7:118190259 G>A), RS1000218936 (7:118193904 A>C), RS1000300075 (7:118195465 G>A,T), RS1000355276 (7:118195742 T>C), RS1000423237 (7:118203299 C>T), RS1000440978 (7:118196496 C>T), RS1000459867 (7:118184535 A>C,T), RS1000492866 (7:118189281 A>G), RS1000543871 (7:118189156 A>G), RS1000558211 (7:118189496 C>G,T), RS1000671468 (7:118184152 T>A,G), RS1000787024 (7:118183988 G>A), RS1000877829 (7:118201288 T>C,G), RS1000895155 (7:118196170 T>C,G)
Disease associations
OMIM: gene MIM:607288 | 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 |
|---|---|---|
| GCST002408_2 | Response to methotrexate in juvenile idiopathic arthritis | 5.000000e-07 |
| GCST002408_3 | Response to methotrexate in juvenile idiopathic arthritis | 6.000000e-06 |
| GCST005580_180 | Intraocular pressure | 2.000000e-08 |
| GCST006065_3 | Glaucoma (primary open-angle) | 1.000000e-08 |
| GCST006436_4 | Triglyceride levels | 2.000000e-08 |
| GCST007624_1 | Positive urgency | 9.000000e-07 |
| GCST007831_1 | Anti-thyroglobulin (TgAb) levels in Hashimoto’s thyroiditis | 2.000000e-07 |
| GCST007851_2 | Anti-thyroid peroxidase (TPOAb) and anti-thyroglobulin (TgAb) levels in Hashimoto’s thyroiditis | 2.000000e-06 |
| GCST008368_10 | Plasma anti-thyroid peroxidase levels | 4.000000e-06 |
| GCST011703_84 | Smoking initiation | 5.000000e-16 |
| GCST011704_7 | Smoking status (current vs never) | 7.000000e-09 |
| GCST90011766_14 | Glaucoma (primary open-angle) | 9.000000e-09 |
| GCST90011770_13 | Glaucoma (primary open-angle) | 8.000000e-17 |
EFO canonical traits (5, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0004695 | intraocular pressure measurement |
| EFO:0004530 | triglyceride measurement |
| EFO:0006946 | behavioural disinhibition measurement |
| EFO:0005670 | smoking initiation |
| EFO:0006527 | smoking status measurement |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: yes
ChEMBL targets (1): CHEMBL5465283 (SINGLE PROTEIN)
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
28 total (human), top 28 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Valproic Acid | affects cotreatment, decreases expression, affects expression | 5 |
| bisphenol A | increases expression, increases methylation | 2 |
| trichostatin A | affects cotreatment, decreases expression | 2 |
| entinostat | decreases expression, affects cotreatment | 2 |
| 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide | affects cotreatment, increases expression, decreases expression | 2 |
| methylmercuric chloride | decreases expression | 1 |
| sodium arsenate | increases expression | 1 |
| arsenite | affects binding, increases reaction | 1 |
| sodium arsenite | affects cotreatment, increases abundance, increases expression | 1 |
| manganese chloride | increases abundance, increases expression, affects cotreatment | 1 |
| di-n-butylphosphoric acid | affects expression | 1 |
| CGP 52608 | affects binding, increases reaction | 1 |
| 2-palmitoylglycerol | increases expression | 1 |
| dorsomorphin | affects cotreatment, decreases expression | 1 |
| LDN 193189 | affects cotreatment, increases expression | 1 |
| Resveratrol | affects cotreatment, increases expression | 1 |
| Air Pollutants | affects expression, increases abundance | 1 |
| Arsenic | affects cotreatment, increases abundance, increases expression | 1 |
| Hydrogen Peroxide | affects cotreatment, decreases expression | 1 |
| Ivermectin | decreases expression | 1 |
| Manganese | increases abundance, increases expression, affects cotreatment | 1 |
| Ozone | affects expression, increases abundance | 1 |
| Plant Extracts | affects cotreatment, increases expression | 1 |
| Ribonucleotides | affects binding | 1 |
| Theophylline | affects cotreatment, decreases expression | 1 |
| Tretinoin | decreases expression | 1 |
| Cyclosporine | increases expression | 1 |
| Sodium Selenite | increases expression | 1 |
ChEMBL screening assays
2 unique, capped per target: 2 binding
Representative assays (with source publication via chembl_document):
| Assay ID | Type | Description | Source paper |
|---|---|---|---|
| CHEMBL5338445 | Binding | Binding affinity to Lsm8 (unknown origin) at 200 uM preincubated for 2 hrs followed by pronase addition and measured after 30 mins by coomassie blue staining based SDS-PAGE gel analysis | Structurally Diverse Alkaloids with Anti-Renal-Fibrosis Activity from the Centipede Scolopendra subspinipes mutilans. — J Nat Prod |
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): juvenile idiopathic arthritis, open-angle glaucoma