LSM1
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Also known as CASMYJL124C
Summary
LSM1 (LSM1 homolog, mRNA degradation associated, HGNC:20472) is a protein-coding gene on chromosome 8p11.23, encoding U6 snRNA-associated Sm-like protein LSm1 (O15116). Plays a role in the degradation of histone mRNAs, the only eukaryotic mRNAs that are not polyadenylated.
This gene encodes a member of the LSm family of RNA-binding proteins. LSm proteins form stable heteromers that bind specifically to the 3’-terminal oligo(U) tract of U6 snRNA and may play a role in pre-mRNA splicing by mediating U4/U6 snRNP formation. Increased expression of this gene may play a role in cellular transformation and the progression of several malignancies including lung cancer, mesothelioma and breast cancer. Alternatively spliced transcript variants have been observed for this gene, and a pseudogene of this gene is located on the short arm of chromosome 9.
Source: NCBI Gene 27257 — RefSeq curated summary.
At a glance
- Gene–disease (curated): neurodevelopmental disorder (Limited, GenCC)
- GWAS associations: 4
- Clinical variants (ClinVar): 27 total
- Phenotypes (HPO): 3
- MANE Select transcript:
NM_014462
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:20472 |
| Approved symbol | LSM1 |
| Name | LSM1 homolog, mRNA degradation associated |
| Location | 8p11.23 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | CASM, YJL124C |
| Ensembl gene | ENSG00000175324 |
| Ensembl biotype | protein_coding |
| OMIM | 607281 |
| Entrez | 27257 |
Gene structure
Transcript identifiers
Ensembl transcripts: 7 — 4 protein_coding, 2 protein_coding_CDS_not_defined, 1 nonsense_mediated_decay
ENST00000311351, ENST00000520286, ENST00000520755, ENST00000522515, ENST00000523511, ENST00000906731, ENST00000918433
RefSeq mRNA: 1 — MANE Select: NM_014462
NM_014462
CCDS: CCDS6103
Canonical transcript exons
ENST00000311351 — 4 exons
| Exon | Start | End |
|---|---|---|
| ENSE00002092415 | 38163339 | 38163840 |
| ENSE00002099181 | 38176275 | 38176493 |
| ENSE00003521722 | 38171965 | 38172033 |
| ENSE00003646117 | 38169802 | 38169917 |
Expression profiles
Bgee: expression breadth ubiquitous, 296 present calls, max score 97.00.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 37.1406 / max 421.0361, expressed in 1820 samples.
FANTOM5 promoters (3 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 92733 | 31.1287 | 1819 |
| 92735 | 4.3070 | 1641 |
| 92734 | 1.7048 | 1071 |
Top tissues by expression
298 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| parotid gland | UBERON:0001831 | 97.00 | gold quality |
| gingival epithelium | UBERON:0001949 | 96.28 | gold quality |
| hair follicle | UBERON:0002073 | 96.11 | gold quality |
| heart right ventricle | UBERON:0002080 | 96.05 | gold quality |
| renal medulla | UBERON:0000362 | 96.01 | gold quality |
| saphenous vein | UBERON:0007318 | 95.94 | gold quality |
| cardia of stomach | UBERON:0001162 | 95.90 | gold quality |
| monocyte | CL:0000576 | 95.89 | gold quality |
| vena cava | UBERON:0004087 | 95.78 | gold quality |
| mononuclear cell | CL:0000842 | 95.69 | gold quality |
| gingiva | UBERON:0001828 | 95.51 | gold quality |
| left ventricle myocardium | UBERON:0006566 | 95.50 | gold quality |
| leukocyte | CL:0000738 | 95.47 | gold quality |
| myocardium | UBERON:0002349 | 95.37 | gold quality |
| right atrium auricular region | UBERON:0006631 | 95.34 | gold quality |
| cardiac atrium | UBERON:0002081 | 95.25 | gold quality |
| cervix squamous epithelium | UBERON:0006922 | 95.15 | silver quality |
| tongue squamous epithelium | UBERON:0006919 | 95.11 | gold quality |
| cardiac ventricle | UBERON:0002082 | 95.03 | gold quality |
| dorsal motor nucleus of vagus nerve | UBERON:0002870 | 95.02 | gold quality |
| heart left ventricle | UBERON:0002084 | 94.99 | gold quality |
| lateral globus pallidus | UBERON:0002476 | 94.96 | gold quality |
| heart | UBERON:0000948 | 94.95 | gold quality |
| tongue | UBERON:0001723 | 94.93 | gold quality |
| body of tongue | UBERON:0011876 | 94.85 | gold quality |
| thoracic aorta | UBERON:0001515 | 94.84 | gold quality |
| ascending aorta | UBERON:0001496 | 94.83 | gold quality |
| superior surface of tongue | UBERON:0007371 | 94.80 | gold quality |
| choroid plexus epithelium | UBERON:0003911 | 94.73 | gold quality |
| pharyngeal mucosa | UBERON:0000355 | 94.69 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 8.59 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
27 targeting LSM1, 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-340-5P | 100.00 | 72.50 | 4437 |
| HSA-MIR-548C-3P | 99.99 | 74.01 | 7587 |
| HSA-MIR-128-3P | 99.95 | 71.17 | 2484 |
| HSA-MIR-216A-3P | 99.95 | 71.19 | 2505 |
| HSA-MIR-338-5P | 99.92 | 72.34 | 2951 |
| HSA-MIR-3681-3P | 99.88 | 70.46 | 2254 |
| HSA-MIR-548AZ-5P | 99.83 | 69.94 | 3230 |
| HSA-MIR-548T-5P | 99.83 | 69.91 | 3220 |
| HSA-MIR-1323 | 99.83 | 69.89 | 2471 |
| HSA-MIR-4495 | 99.82 | 72.08 | 3080 |
| HSA-MIR-139-5P | 99.80 | 69.50 | 1399 |
| HSA-MIR-448 | 99.79 | 72.37 | 2103 |
| HSA-MIR-548O-3P | 99.74 | 69.30 | 2228 |
| HSA-MIR-4699-3P | 99.71 | 70.15 | 3142 |
| HSA-MIR-6134 | 99.63 | 65.68 | 1537 |
| HSA-MIR-105-5P | 99.54 | 69.24 | 2060 |
| HSA-MIR-7853-5P | 99.54 | 69.30 | 2055 |
| HSA-MIR-6513-5P | 99.43 | 67.81 | 1071 |
| HSA-MIR-6882-5P | 99.35 | 71.13 | 1206 |
| HSA-MIR-542-3P | 99.34 | 67.58 | 1270 |
| HSA-MIR-4252 | 98.45 | 66.37 | 987 |
| HSA-MIR-4684-3P | 98.24 | 69.91 | 1075 |
| HSA-MIR-3085-5P | 97.72 | 65.43 | 544 |
| HSA-MIR-618 | 97.62 | 67.46 | 861 |
| HSA-MIR-1227-3P | 97.36 | 66.94 | 834 |
| HSA-MIR-1224-3P | 97.24 | 65.92 | 851 |
Literature-anchored findings (GeneRIF, showing 9)
- Lsm1 is deeply involved in prostate cancer progression through its down-regulation, independent of any gene mutation. (PMID:11953827)
- LSm1-7 proteins colocalize with DCP1,DCP2 and Xrn1 in cytoplasmic foci (PMID:12515382)
- LSM1 is a breast cancer oncogene from the 8p11-12 amplicon. (PMID:17001308)
- Results suggest that LSm-1/CaSm functions as an oncogene in the promotion of cellular transformation and cancer progression. (PMID:18218995)
- The results of this study provided further support for previous genetic findings reporting the association of an intronic SNP (rs16887244) in LSM1 and schizophrenia in a Chinese sample (PMID:24035562)
- These results provide evidence that LSm1 binding to the DENV RNA 3’ UTR positively regulates DENV RNA replication. (PMID:25872476)
- DIS3L2 and LSm proteins are involved in the surveillance of Sm ring-deficient snRNAs. (PMID:32374871)
- Integrated analysis of pivotal biomarker of LSM1, immune cell infiltration and therapeutic drugs in breast cancer. (PMID:35692083)
- The role of LSM1 in breast cancer: Shaping metabolism and tumor-associated macrophage infiltration. (PMID:37995895)
Cross-species orthologs
5 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | lsm1 | ENSDARG00000043177 |
| mus_musculus | Lsm1 | ENSMUSG00000037296 |
| rattus_norvegicus | Lsm1 | ENSRNOG00000015375 |
| drosophila_melanogaster | LSm1 | FBGN0261067 |
| caenorhabditis_elegans | WBGENE00003076 |
Paralogs (1): LSM8 (ENSG00000128534)
Protein
Protein identifiers
U6 snRNA-associated Sm-like protein LSm1 — O15116 (reviewed: O15116)
Alternative names: Cancer-associated Sm-like, Small nuclear ribonuclear CaSm
All UniProt accessions (4): A0A0S2Z590, E5RH18, E5RJ47, O15116
UniProt curated annotations — full annotation on UniProt →
Function. Plays a role in the degradation of histone mRNAs, the only eukaryotic mRNAs that are not polyadenylated. Probably also part of an LSm subunits-containing complex involved in the general process of mRNA degradation.
Subunit / interactions. Interacts with SLBP; interaction with SLBP occurs when histone mRNA is being rapidly degraded during the S phase. LSm subunits form a heteromer with a donut shape.
Subcellular location. Cytoplasm. P-body.
Disease relevance. FICUS syndrome (FICUS) [MIM:621193] An autosomal recessive disorder characterized by facial dysmorphism, impaired intellectual development, global developmental delay, and multisystem features including cardiovascular, urogenital, skeletal, gastrointestinal, and ophthalmologic abnormalities. The disease is caused by variants affecting the gene represented in this entry.
Similarity. Belongs to the snRNP Sm proteins family.
RefSeq proteins (1): NP_055277* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR001163 | Sm_dom_euk/arc | Domain |
| IPR010920 | LSM_dom_sf | Homologous_superfamily |
| IPR034104 | Lsm1 | Domain |
| IPR044642 | PTHR15588 | Family |
| IPR047575 | Sm | Domain |
Pfam: PF01423
UniProt features (5 total): modified residue 2, chain 1, domain 1, sequence variant 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-O15116-F1 | 89.59 | 0.76 |
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 (2): 123, 129
Function
Pathways and Gene Ontology
Reactome pathways
3 pathways
| ID | Pathway |
|---|---|
| R-HSA-430039 | mRNA decay by 5’ to 3’ exoribonuclease |
| R-HSA-429914 | Deadenylation-dependent mRNA decay |
| R-HSA-8953854 | Metabolism of RNA |
MSigDB gene sets: 162 (showing top):
GSE18804_BRAIN_VS_COLON_TUMORAL_MACROPHAGE_DN, GSE18804_SPLEEN_MACROPHAGE_VS_TUMORAL_MACROPHAGE_DN, MORF_RAGE, MODULE_52, GOBP_NEGATIVE_REGULATION_OF_NEURON_DIFFERENTIATION, GOBP_REGULATION_OF_MRNA_CATABOLIC_PROCESS, MORF_ATRX, REACTOME_MRNA_DECAY_BY_5_TO_3_EXORIBONUCLEASE, GOBP_MACROMOLECULE_CATABOLIC_PROCESS, GOBP_NEUROGENESIS, MODULE_16, PUJANA_CHEK2_PCC_NETWORK, MODULE_388, GOBP_POST_TRANSCRIPTIONAL_REGULATION_OF_GENE_EXPRESSION, MUELLER_PLURINET
GO Biological Process (9): deadenylation-dependent decapping of nuclear-transcribed mRNA (GO:0000290), RNA splicing, via transesterification reactions (GO:0000375), mRNA processing (GO:0006397), RNA splicing (GO:0008380), stem cell population maintenance (GO:0019827), neuron differentiation (GO:0030182), negative regulation of neuron differentiation (GO:0045665), histone mRNA catabolic process (GO:0071044), nuclear-transcribed mRNA catabolic process (GO:0000956)
GO Molecular Function (3): RNA binding (GO:0003723), mRNA binding (GO:0003729), protein binding (GO:0005515)
GO Cellular Component (6): P-body (GO:0000932), nucleus (GO:0005634), cytoplasm (GO:0005737), cytosol (GO:0005829), Lsm1-7-Pat1 complex (GO:1990726), ribonucleoprotein complex (GO:1990904)
Reactome top-level categories
Rollup of top-2 pathways:
| Category | Pathways |
|---|---|
| Deadenylation-dependent mRNA decay | 1 |
| Metabolism of RNA | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| nuclear-transcribed mRNA catabolic process | 2 |
| RNA processing | 2 |
| cellular anatomical structure | 2 |
| nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay | 1 |
| mRNA methylguanosine-cap decapping | 1 |
| RNA splicing | 1 |
| mRNA metabolic process | 1 |
| multicellular organismal process | 1 |
| maintenance of cell number | 1 |
| cell differentiation | 1 |
| generation of neurons | 1 |
| neuron differentiation | 1 |
| negative regulation of cell differentiation | 1 |
| regulation of neuron differentiation | 1 |
| histone mRNA metabolic process | 1 |
| mRNA catabolic process | 1 |
| nucleic acid binding | 1 |
| RNA binding | 1 |
| binding | 1 |
| cytoplasmic ribonucleoprotein granule | 1 |
| intracellular membrane-bounded organelle | 1 |
| intracellular anatomical structure | 1 |
| cytoplasm | 1 |
| Sm-like protein family complex | 1 |
| protein-containing complex | 1 |
Protein interactions and networks
STRING
1750 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| LSM1 | XRN1 | Q8IZH2 | 999 |
| LSM1 | LSM7 | Q9UK45 | 998 |
| LSM1 | EDC3 | Q96F86 | 991 |
| LSM1 | LSM4 | Q9Y4Z0 | 988 |
| LSM1 | LSM3 | P62310 | 986 |
| LSM1 | LSM2 | Q9Y333 | 986 |
| LSM1 | LSM6 | P62312 | 981 |
| LSM1 | PATL1 | Q86TB9 | 969 |
| LSM1 | DCP2 | Q8IU60 | 967 |
| LSM1 | LSM5 | Q9Y4Y9 | 965 |
| LSM1 | DDX6 | P26196 | 907 |
| LSM1 | SNRPD2 | P43330 | 886 |
| LSM1 | EDC4 | Q6P2E9 | 882 |
| LSM1 | LSM14A | Q8ND56 | 862 |
| LSM1 | DCP1A | Q9NPI6 | 839 |
IntAct
159 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| LSM1 | LSM3 | psi-mi:“MI:0915”(physical association) | 0.950 |
| LSM3 | LSM1 | psi-mi:“MI:0915”(physical association) | 0.950 |
| LSM3 | LSM1 | psi-mi:“MI:0914”(association) | 0.950 |
| LSM1 | LSM4 | psi-mi:“MI:0915”(physical association) | 0.840 |
| LSM1 | LSM6 | psi-mi:“MI:0914”(association) | 0.840 |
| LSM6 | LSM1 | psi-mi:“MI:0914”(association) | 0.840 |
| LSM1 | LSM2 | psi-mi:“MI:0915”(physical association) | 0.830 |
| LSM1 | PATL1 | psi-mi:“MI:0915”(physical association) | 0.770 |
| PATL1 | LSM1 | psi-mi:“MI:0914”(association) | 0.770 |
| PATL1 | LSM1 | psi-mi:“MI:0915”(physical association) | 0.770 |
BioGRID (151): LSM3 (Two-hybrid), LSM1 (Two-hybrid), LSM1 (Co-fractionation), LSM1 (Co-fractionation), LSM1 (Co-fractionation), LSM1 (Co-fractionation), PRPF3 (Co-fractionation), SNRPE (Co-fractionation), LSM1 (Affinity Capture-MS), NARS (Two-hybrid), PSMB5 (Two-hybrid), LSM1 (Affinity Capture-MS), LSM1 (Affinity Capture-MS), LSM1 (Affinity Capture-MS), LSM1 (Affinity Capture-MS)
ESM2 similar proteins: A2BIG9, A4IGZ4, A6H8I2, B8JKF4, D2GXY4, G2TRR1, O14036, O15116, O74499, O80396, P23059, P47017, P53905, P87173, Q02260, Q06217, Q08DB2, Q0IIM8, Q38E83, Q4R804, Q54HF6, Q54W83, Q55EX5, Q5E9Z8, Q6AZT2, Q6C7U0, Q6DJ48, Q6E0V2, Q6GQ67, Q6NU60, Q6NW58, Q7PWB1, Q8IPZ7, Q8LFL8, Q8N2I9, Q8VC85, Q945P8, Q94C95, Q9BRA0, Q9CQQ8
Diamond homologs: O15116, O74483, O74966, O82221, O95777, P24715, P47017, P87173, Q1ZXD5, Q3ZCE0, Q54W83, Q5E9Z8, Q5RCP3, Q6ZWM4, Q8LFL8, Q8VC85, Q8VYI0, Q945P8, Q9VXE0, O74499, P14678, P17136, P27048, P40018, P47093, P53905, P62308, P62309, P63162, P63163, P63164, Q05856, Q17QN3, Q3ZBL0, Q58DW4, Q5R6I0, Q60HD3, Q8SQH7, Q9N1Q0, Q9PV94
SIGNOR signaling
0 interactions.
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 77 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 | 9 | 124.6× | 2e-15 |
| mRNA Splicing | 8 | 16.0× | 6e-06 |
| Processing of Capped Intron-Containing Pre-mRNA | 8 | 11.9× | 3e-05 |
| Metabolism of RNA | 11 | 8.3× | 8e-06 |
| mRNA Splicing - Major Pathway | 8 | 8.0× | 6e-04 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| P-body assembly | 6 | 90.3× | 3e-08 |
| spliceosomal snRNP assembly | 5 | 41.5× | 5e-05 |
| epidermal growth factor receptor signaling pathway | 5 | 17.7× | 2e-03 |
| negative regulation of translation | 6 | 16.8× | 3e-04 |
| mRNA splicing, via spliceosome | 8 | 10.5× | 3e-04 |
| mRNA processing | 7 | 7.9× | 4e-03 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
27 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 16 |
| Likely benign | 0 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
461 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 8:38163838:GTCCT:G | acceptor_loss | 1.0000 |
| 8:38163839:TCCT:T | acceptor_loss | 1.0000 |
| 8:38169800:A:AC | donor_gain | 1.0000 |
| 8:38169801:C:CC | donor_gain | 1.0000 |
| 8:38169801:CT:C | donor_gain | 1.0000 |
| 8:38169801:CTAT:C | donor_gain | 1.0000 |
| 8:38169918:C:CC | acceptor_gain | 1.0000 |
| 8:38169924:G:C | acceptor_gain | 1.0000 |
| 8:38169924:G:GC | acceptor_gain | 1.0000 |
| 8:38169926:G:C | acceptor_gain | 1.0000 |
| 8:38169926:G:GC | acceptor_gain | 1.0000 |
| 8:38169928:A:C | acceptor_gain | 1.0000 |
| 8:38172034:C:CC | acceptor_gain | 1.0000 |
| 8:38163837:AGTC:A | acceptor_gain | 0.9900 |
| 8:38163838:GTC:G | acceptor_gain | 0.9900 |
| 8:38163839:TC:T | acceptor_gain | 0.9900 |
| 8:38163840:CC:C | acceptor_gain | 0.9900 |
| 8:38163841:C:CC | acceptor_gain | 0.9900 |
| 8:38169793:TTCAC:T | donor_loss | 0.9900 |
| 8:38169794:TCAC:T | donor_loss | 0.9900 |
| 8:38169795:CACT:C | donor_loss | 0.9900 |
| 8:38169796:AC:A | donor_loss | 0.9900 |
| 8:38169797:C:CT | donor_loss | 0.9900 |
| 8:38169798:TTA:T | donor_loss | 0.9900 |
| 8:38169799:T:G | donor_loss | 0.9900 |
| 8:38169800:AC:A | donor_loss | 0.9900 |
| 8:38169801:CTA:C | donor_gain | 0.9900 |
| 8:38169801:CTATT:C | donor_gain | 0.9900 |
| 8:38169913:GTTTG:G | acceptor_gain | 0.9900 |
| 8:38169914:TTTG:T | acceptor_gain | 0.9900 |
AlphaMissense
863 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 8:38169830:C:A | G68V | 1.000 |
| 8:38169830:C:T | G68E | 1.000 |
| 8:38169831:C:G | G68R | 1.000 |
| 8:38169831:C:T | G68R | 1.000 |
| 8:38169836:A:T | V66D | 1.000 |
| 8:38171966:A:C | F38L | 1.000 |
| 8:38171966:A:T | F38L | 1.000 |
| 8:38171968:A:G | F38L | 1.000 |
| 8:38171973:T:A | D36V | 1.000 |
| 8:38171991:C:T | G30D | 1.000 |
| 8:38171992:C:G | G30R | 1.000 |
| 8:38169809:C:T | G75E | 0.999 |
| 8:38169815:A:G | L73P | 0.999 |
| 8:38169823:A:C | N70K | 0.999 |
| 8:38169823:A:T | N70K | 0.999 |
| 8:38169827:T:A | E69V | 0.999 |
| 8:38169832:T:A | R67S | 0.999 |
| 8:38169832:T:G | R67S | 0.999 |
| 8:38169833:C:A | R67I | 0.999 |
| 8:38169833:C:G | R67T | 0.999 |
| 8:38169848:C:A | G62V | 0.999 |
| 8:38169848:C:T | G62E | 0.999 |
| 8:38169849:C:A | G62W | 0.999 |
| 8:38169849:C:G | G62R | 0.999 |
| 8:38169849:C:T | G62R | 0.999 |
| 8:38169887:C:G | R49P | 0.999 |
| 8:38169888:G:T | R49S | 0.999 |
| 8:38169905:A:G | L43P | 0.999 |
| 8:38169913:G:C | N40K | 0.999 |
| 8:38169913:G:T | N40K | 0.999 |
dbSNP variants (sampled 300 via entrez): RS1000000268 (8:38176068 T>A), RS1000096517 (8:38171438 G>A), RS1000254934 (8:38177093 C>T), RS1000392532 (8:38175889 T>G), RS1000449486 (8:38176224 G>A), RS1000860282 (8:38175980 T>C), RS1001425566 (8:38163474 T>C), RS1001598082 (8:38165952 T>C), RS1002023522 (8:38164887 T>C), RS1002356500 (8:38166565 C>T), RS1002708910 (8:38167678 T>C), RS1002744045 (8:38177041 G>A), RS1003066289 (8:38167414 T>C), RS1003194057 (8:38163264 CT>C), RS1003339861 (8:38178224 C>A,T)
Disease associations
OMIM: gene MIM:607281 | disease phenotypes: MIM:621193, MIM:219050
GenCC curated gene-disease
| Disease | Classification | Inheritance |
|---|---|---|
| neurodevelopmental disorder | Limited | Autosomal recessive |
Mondo (9): FICUS syndrome (MONDO:0978296), intellectual disability (MONDO:0001071), constipation disorder (MONDO:0002203), strabismus (MONDO:0003432), mitral valve stenosis (MONDO:0005852), oligohydramnios (MONDO:0005881), cryptorchidism (MONDO:0009047), complex neurodevelopmental disorder (MONDO:0100038), neurodevelopmental disorder (MONDO:0700092)
Orphanet (2): Non-specific syndromic intellectual disability (Orphanet:528084), NON RARE IN EUROPE: Unexplained intellectual disability (Orphanet:319658)
HPO phenotypes
3 total (3 of 3 shown, HPO-id order):
| HPO | Term |
|---|---|
| HP:0002019 | Constipation |
| HP:0001562 | Oligohydramnios |
| HP:0000028 | Cryptorchidism |
GWAS associations
4 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST001301_2 | Schizophrenia | 1.000000e-10 |
| GCST004521_242 | Autism spectrum disorder or schizophrenia | 4.000000e-09 |
| GCST004946_16 | Schizophrenia | 1.000000e-11 |
| GCST006803_65 | Schizophrenia | 6.000000e-10 |
MeSH disease descriptors (7)
| Descriptor | Name | Tree numbers |
|---|---|---|
| D003248 | Constipation | C23.888.821.150 |
| D003456 | Cryptorchidism | C12.100.500.829.258; C12.200.294.829.258; C12.200.706.258; C12.800.258; C16.131.939.258; C19.391.829.258 |
| D008607 | Intellectual Disability | C10.597.606.360; C23.888.592.604.646; F01.700.687; F03.625.539 |
| D008946 | Mitral Valve Stenosis | C14.280.484.517 |
| D065886 | Neurodevelopmental Disorders | F03.625 |
| D016104 | Oligohydramnios | C12.050.703.560 |
| D013285 | Strabismus | C10.292.562.887; C11.590.810 |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
33 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Air Pollutants | affects cotreatment, increases abundance, increases oxidation, decreases expression | 2 |
| Particulate Matter | decreases expression, increases abundance, affects cotreatment | 2 |
| aristolochic acid I | increases expression | 1 |
| dicrotophos | decreases expression | 1 |
| alpha-pinene | affects cotreatment, increases oxidation, increases abundance | 1 |
| bisphenol A | decreases expression | 1 |
| sodium arsenate | decreases 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 |
| methacrylaldehyde | increases abundance, affects cotreatment, increases oxidation | 1 |
| di-n-butylphosphoric acid | affects expression | 1 |
| abrine | increases expression | 1 |
| (4-amino-1,4-dihydro-3-(2-pyridyl)-5-thioxo-1,2,4-triazole)copper(II) | increases expression | 1 |
| Acrolein | increases abundance, affects cotreatment, increases oxidation | 1 |
| Arsenic | affects cotreatment, increases abundance, increases expression | 1 |
| Cadmium | increases abundance, increases expression | 1 |
| Gasoline | increases abundance, affects cotreatment, decreases expression | 1 |
| Hydrogen Peroxide | affects expression | 1 |
| Ivermectin | decreases expression | 1 |
| Manganese | increases abundance, increases expression, affects cotreatment | 1 |
| Ozone | affects cotreatment, increases oxidation, increases abundance | 1 |
| Paraquat | increases expression | 1 |
| Polycyclic Aromatic Hydrocarbons | affects cotreatment, decreases expression, increases abundance | 1 |
| Potassium Dichromate | decreases expression | 1 |
| Rotenone | increases expression | 1 |
| Smoke | decreases expression | 1 |
| Metribolone | increases expression | 1 |
| Aflatoxin B1 | decreases methylation | 1 |
| Cadmium Chloride | increases expression, increases abundance | 1 |
Clinical trials (associated diseases)
493 trials via MONDO — disease-level, not drug-specific.
| Trial | Phase | Status | Title |
|---|---|---|---|
| NCT04586348 | PHASE4 | UNKNOWN | Prenatal Iodine Supplementation and Early Childhood Neurodevelopment |
| NCT04873115 | PHASE4 | UNKNOWN | Double-blind, Placebo-controlled, Randomized Clinical Trial Comparing the Efficacy and Safety of Sialanar Plus orAl rehabiLitation Against Placebo Plus Oral Rehabilitation for chIldren and Adolescents With seVere Sialorrhoea and Neurodisabilties, |
| NCT05657860 | PHASE4 | COMPLETED | Guanfacine Extended Release for the Reduction of Aggression and Self-injurious Behavior Associated With Prader-Willi Syndrome |
| NCT05744479 | PHASE4 | RECRUITING | Metformin for Antipsychotic-induced Weight Gain in Adults With Intellectual Disability |
| NCT06107829 | PHASE4 | WITHDRAWN | Valbenazine Treatment of Tardive Dyskinesia in Adults With Intellectual/Developmental Disabilities |
| NCT06997198 | PHASE4 | NOT_YET_RECRUITING | Deutetrabenazine Treatment for Tardive Dyskinesia in Intellectual/Developmental Disabilities |
| NCT00149877 | PHASE4 | COMPLETED | Efficacy, Safety and Tolerability of Tegaserod in Patients With Chronic Constipation |
| NCT00153114 | PHASE4 | COMPLETED | PolyethyleneGlycol3350 Laxative vs Placebo in Constipated Children |
| NCT00153127 | PHASE4 | COMPLETED | Comparison of PolyethyleneGlycol and Placebo for Relief of Constipation From Constipating Medications |
| NCT00153140 | PHASE4 | COMPLETED | Polyethyleneglycol3350 vs Tegaserod in Treatment of Patients With Chronic Constipation |
| NCT00153153 | PHASE4 | COMPLETED | Extended Use of Polyethyleneglycol3350 Laxative in Constipated Patients |
| NCT00157638 | PHASE4 | COMPLETED | Integrating Family Medicine and Pharmacy to Advance Primary Care Therapeutics |
| NCT00164125 | PHASE4 | COMPLETED | An Open Label Study of Chronic Polyethyleneglycol3350 Use in Constipated Patients |
| NCT00171522 | PHASE4 | COMPLETED | Preference of Tegaserod vs. PEG 3350 in Patients With Constipation |
| NCT00256984 | PHASE4 | COMPLETED | Study of Stapled Transanal Rectal Resection (STARR) Surgery in Refractory Constipation Associated With Obstructive Defecation Syndrome (ODS) |
| NCT00276354 | PHASE4 | COMPLETED | Study of Long-term Use of Forlax® in Elderly Patients With Chronic Constipation |
| NCT00286520 | PHASE4 | COMPLETED | Treatment of Fecal Incontinence and Constipation in Patients With Spinal Cord Injury |
| NCT00319670 | PHASE4 | COMPLETED | A Pilot Study of a New MiraLax® Dose Formulation For Use in Constipated Children |
| NCT00348634 | PHASE4 | TERMINATED | Effect of Tegaserod on Orocecal Transit in Elderly Chronic Constipation Patients |
| NCT00452335 | PHASE4 | COMPLETED | Safety and Efficacy of Lubiprostone in Pediatric Patients With Constipation |
| NCT00521872 | PHASE4 | COMPLETED | Stapled Trans Anal Rectal Resection (STARR) for Outlet Obstruction: Functional and Morphological Outcome |
| NCT00583609 | PHASE4 | COMPLETED | A Pilot Study of a New PEG3350 Dose Formulation For Use in Constipated Children |
| NCT00603681 | PHASE4 | COMPLETED | Comparison of PEG Solutions With and Without Electrolytes in the Treatment of Constipation |
| NCT00712543 | PHASE4 | COMPLETED | A Preference Study Comparing Kristalose® and Liquid Lactulose |
| NCT00763399 | PHASE4 | COMPLETED | Effect of Probiotics on Intestinal Bacterial Population and Immune Modulation |
| NCT00770432 | PHASE4 | COMPLETED | Study Comparing PEG 3350 Laxative to Placebo in the Treatment of Occasional Constipation (Study CL2007-12)(P08216) |
| NCT00799201 | PHASE4 | TERMINATED | Enteral Naloxone Versus a Traditional Bowel Regimen for the Prevention of Opioid Induced Constipation in Trauma Patients |
| NCT00844831 | PHASE4 | COMPLETED | Effects of Lubiprostone on Small Bowel and Colonic Bacteria: A Correlation Study With Segmental and Whole Gut Transit |
| NCT00949377 | PHASE4 | WITHDRAWN | Can Methylnaltrexone Safely Treat Opioid Related Constipation in the Emergency Department? |
| NCT01003249 | PHASE4 | TERMINATED | Dysfunctional Voiding and Lower Urinary Tract Symptoms With Baclofen |
| NCT01096290 | PHASE4 | TERMINATED | Comparison of Lubiprostone and Placebo for the Relief of Constipation From Constipating Medications |
| NCT01114997 | PHASE4 | TERMINATED | Effect of Lidocaine and Esmolol to Improve the Quality of Recovery |
| NCT01170039 | PHASE4 | COMPLETED | The Effectiveness of Lubiprostone in Constipated Diabetics |
| NCT01180725 | PHASE4 | COMPLETED | Investigation of Dried Plums in the Treatment of Adults With Constipation |
| NCT01189409 | PHASE4 | TERMINATED | Polyethylene Glycol (PEG) Versus Sennosides Study in Opioid-Induced Constipation in Cancer Patients |
| NCT01230840 | PHASE4 | COMPLETED | Effect of Wheat Dextrin on Calcium and Magnesium Absorption |
| NCT01236534 | PHASE4 | COMPLETED | Lubiprostone in Patients With Multiple Sclerosis Associated Constipation |
| NCT01267370 | PHASE4 | COMPLETED | Soy Polysaccharide Fiber for the Treatment of Chronic Constipation in Children: a Randomized, Double-blind Trial |
| NCT01333787 | PHASE4 | COMPLETED | Dietary Fiber Mixture in Constipated Pediatric Patients |
| NCT01424228 | PHASE4 | COMPLETED | Evaluation of Long-term Prucalopride Treatment With Chronic Constipation in Subjects Aged ≥ 18 Years |
Related Atlas pages
- Associated diseases: neurodevelopmental disorder
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): constipation disorder, cryptorchidism, FICUS syndrome, mitral valve stenosis, oligohydramnios, strabismus