MRPS33
gene geneOn this page
Also known as CGI-139mS33
Summary
MRPS33 (mitochondrial ribosomal protein S33, HGNC:16634) is a protein-coding gene on chromosome 7q34, encoding Small ribosomal subunit protein mS33 (Q9Y291).
Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. The 28S subunit of the mammalian mitoribosome may play a crucial and characteristic role in translation initiation. This gene encodes a 28S subunit protein that is one of the more highly conserved mitochondrial ribosomal proteins among mammals, Drosophila and C. elegans. Splice variants that differ in the 5’ UTR have been found for this gene; all variants encode the same protein. Pseudogenes corresponding to this gene are found on chromosomes 1q, 4p, 4q, and 20q
Source: NCBI Gene 51650 — RefSeq curated summary.
At a glance
- GWAS associations: 6
- Clinical variants (ClinVar): 20 total — 1 pathogenic
- MANE Select transcript:
NM_053035
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:16634 |
| Approved symbol | MRPS33 |
| Name | mitochondrial ribosomal protein S33 |
| Location | 7q34 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | CGI-139, mS33 |
| Ensembl gene | ENSG00000090263 |
| Ensembl biotype | protein_coding |
| OMIM | 611993 |
| Entrez | 51650 |
Gene structure
Transcript identifiers
Ensembl transcripts: 19 — 15 protein_coding, 2 protein_coding_CDS_not_defined, 2 retained_intron
ENST00000324787, ENST00000393008, ENST00000467334, ENST00000469351, ENST00000472343, ENST00000484502, ENST00000485202, ENST00000496641, ENST00000496958, ENST00000893624, ENST00000893625, ENST00000893626, ENST00000918923, ENST00000918924, ENST00000918925, ENST00000918926, ENST00000918927, ENST00000966811, ENST00000966812
RefSeq mRNA: 2 — MANE Select: NM_053035
NM_016071, NM_053035
CCDS: CCDS5864
Canonical transcript exons
ENST00000324787 — 3 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001153630 | 141010419 | 141010660 |
| ENSE00001266750 | 141014911 | 141014952 |
| ENSE00003705040 | 141002610 | 141006535 |
Expression profiles
Bgee: expression breadth ubiquitous, 284 present calls, max score 98.10.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 23.8226 / max 310.2371, expressed in 1802 samples.
FANTOM5 promoters (2 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 86579 | 13.9531 | 1789 |
| 86578 | 9.8695 | 1734 |
Top tissues by expression
287 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| mucosa of transverse colon | UBERON:0004991 | 98.10 | gold quality |
| hindlimb stylopod muscle | UBERON:0004252 | 97.71 | gold quality |
| triceps brachii | UBERON:0001509 | 97.23 | gold quality |
| rectum | UBERON:0001052 | 97.20 | gold quality |
| diaphragm | UBERON:0001103 | 96.99 | gold quality |
| heart left ventricle | UBERON:0002084 | 96.94 | gold quality |
| cardiac ventricle | UBERON:0002082 | 96.86 | gold quality |
| islet of Langerhans | UBERON:0000006 | 96.83 | gold quality |
| biceps brachii | UBERON:0001507 | 96.82 | gold quality |
| gastrocnemius | UBERON:0001388 | 96.70 | gold quality |
| right atrium auricular region | UBERON:0006631 | 96.66 | gold quality |
| apex of heart | UBERON:0002098 | 96.65 | gold quality |
| body of pancreas | UBERON:0001150 | 96.61 | gold quality |
| right adrenal gland | UBERON:0001233 | 96.54 | gold quality |
| muscle of leg | UBERON:0001383 | 96.36 | gold quality |
| skeletal muscle tissue of biceps brachii | UBERON:0004502 | 96.33 | gold quality |
| right adrenal gland cortex | UBERON:0035827 | 96.25 | gold quality |
| adrenal tissue | UBERON:0018303 | 96.22 | gold quality |
| left adrenal gland | UBERON:0001234 | 96.19 | gold quality |
| left adrenal gland cortex | UBERON:0035825 | 96.05 | gold quality |
| transverse colon | UBERON:0001157 | 95.89 | gold quality |
| skeletal muscle tissue of rectus abdominis | UBERON:0004511 | 95.84 | gold quality |
| heart right ventricle | UBERON:0002080 | 95.79 | gold quality |
| olfactory segment of nasal mucosa | UBERON:0005386 | 95.77 | gold quality |
| gluteal muscle | UBERON:0002000 | 95.62 | gold quality |
| heart | UBERON:0000948 | 95.57 | gold quality |
| adrenal cortex | UBERON:0001235 | 95.52 | gold quality |
| C1 segment of cervical spinal cord | UBERON:0006469 | 95.39 | gold quality |
| nucleus accumbens | UBERON:0001882 | 95.36 | gold quality |
| adrenal gland | UBERON:0002369 | 95.28 | gold quality |
Single-cell (SCXA)
Detected in 3 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 12.61 |
| E-MTAB-6379 | no | 1159.14 |
| E-GEOD-100618 | no | 210.59 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
19 targeting MRPS33, 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-5696 | 99.98 | 72.36 | 4487 |
| HSA-MIR-507 | 99.97 | 70.11 | 1915 |
| HSA-MIR-557 | 99.96 | 70.01 | 1640 |
| HSA-MIR-450B-5P | 99.92 | 71.48 | 3175 |
| HSA-MIR-3680-3P | 99.75 | 72.51 | 3095 |
| HSA-MIR-1303 | 99.65 | 69.77 | 1662 |
| HSA-MIR-3123 | 99.47 | 67.15 | 2693 |
| HSA-MIR-3978 | 99.24 | 68.39 | 2201 |
| HSA-MIR-6749-3P | 99.00 | 65.73 | 1443 |
| HSA-MIR-4326 | 98.97 | 67.63 | 962 |
| HSA-MIR-12114 | 98.70 | 63.45 | 730 |
| HSA-MIR-4691-5P | 98.41 | 66.77 | 1343 |
| HSA-MIR-6792-3P | 98.41 | 66.86 | 1359 |
| HSA-MIR-6867-3P | 98.12 | 66.07 | 1305 |
| HSA-MIR-124-5P | 98.11 | 67.65 | 1095 |
| HSA-MIR-4469 | 97.93 | 65.81 | 1319 |
| HSA-MIR-4678 | 97.59 | 68.31 | 902 |
| HSA-MIR-331-5P | 96.59 | 67.94 | 705 |
| HSA-MIR-6802-5P | 94.94 | 65.95 | 366 |
Cross-species orthologs
5 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | mrps33 | ENSDARG00000020015 |
| mus_musculus | Mrps33 | ENSMUSG00000029918 |
| rattus_norvegicus | Mrps33 | ENSRNOG00000026528 |
| drosophila_melanogaster | mRpS33 | FBGN0038426 |
| caenorhabditis_elegans | WBGENE00009013 |
Protein
Protein identifiers
Small ribosomal subunit protein mS33 — Q9Y291 (reviewed: Q9Y291)
Alternative names: 28S ribosomal protein S33, mitochondrial
All UniProt accessions (3): Q9Y291, A4D1T3, C9JBY7
UniProt curated annotations — full annotation on UniProt →
Subunit / interactions. Component of the mitochondrial small ribosomal subunit (mt-SSU). Mature mammalian 55S mitochondrial ribosomes consist of a small (28S) and a large (39S) subunit. The 28S small subunit contains a 12S ribosomal RNA (12S mt-rRNA) and 30 different proteins. The 39S large subunit contains a 16S rRNA (16S mt-rRNA), a copy of mitochondrial valine transfer RNA (mt-tRNA(Val)), which plays an integral structural role, and 52 different proteins.
Subcellular location. Mitochondrion.
Similarity. Belongs to the mitochondrion-specific ribosomal protein mS33 family.
RefSeq proteins (2): NP_057155, NP_444263* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR013219 | Ribosomal_mS33 | Family |
Pfam: PF08293
UniProt features (15 total): helix 6, turn 2, compositionally biased region 2, initiator methionine 1, chain 1, strand 1, region of interest 1, modified residue 1
Structure
Experimental structures (PDB)
77 structures, top 30 by resolution.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 7QI4 | ELECTRON MICROSCOPY | 2.21 |
| 8CSS | ELECTRON MICROSCOPY | 2.36 |
| 7P2E | ELECTRON MICROSCOPY | 2.4 |
| 8RRI | ELECTRON MICROSCOPY | 2.4 |
| 9OLF | ELECTRON MICROSCOPY | 2.46 |
| 9OJM | ELECTRON MICROSCOPY | 2.5 |
| 8CSQ | ELECTRON MICROSCOPY | 2.54 |
| 8CSR | ELECTRON MICROSCOPY | 2.54 |
| 6ZM6 | ELECTRON MICROSCOPY | 2.59 |
| 7QI5 | ELECTRON MICROSCOPY | 2.63 |
| 8CSP | ELECTRON MICROSCOPY | 2.66 |
| 7PNX | ELECTRON MICROSCOPY | 2.76 |
| 8ANY | ELECTRON MICROSCOPY | 2.85 |
| 8CST | ELECTRON MICROSCOPY | 2.85 |
| 6ZM5 | ELECTRON MICROSCOPY | 2.89 |
| 7PO0 | ELECTRON MICROSCOPY | 2.9 |
| 8K2A | ELECTRON MICROSCOPY | 2.9 |
| 9PGL | ELECTRON MICROSCOPY | 2.9 |
| 7PO1 | ELECTRON MICROSCOPY | 2.92 |
| 7PO3 | ELECTRON MICROSCOPY | 2.92 |
| 9PGF | ELECTRON MICROSCOPY | 2.93 |
| 6VMI | ELECTRON MICROSCOPY | 2.96 |
| 6RW4 | ELECTRON MICROSCOPY | 2.97 |
| 6VLZ | ELECTRON MICROSCOPY | 2.97 |
| 7QI6 | ELECTRON MICROSCOPY | 2.98 |
| 8QRN | ELECTRON MICROSCOPY | 2.98 |
| 9PSM | ELECTRON MICROSCOPY | 2.98 |
| 8OIS | ELECTRON MICROSCOPY | 3 |
| 9G5C | ELECTRON MICROSCOPY | 3 |
| 9G5D | ELECTRON MICROSCOPY | 3 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q9Y291-F1 | 91.51 | 0.81 |
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
7 pathways
| ID | Pathway |
|---|---|
| R-HSA-5368286 | Mitochondrial translation initiation |
| R-HSA-5389840 | Mitochondrial translation elongation |
| R-HSA-5419276 | Mitochondrial translation termination |
| R-HSA-9937383 | Mitochondrial ribosome-associated quality control |
| R-HSA-392499 | Metabolism of proteins |
| R-HSA-5368287 | Mitochondrial translation |
| R-HSA-72766 | Translation |
MSigDB gene sets: 171 (showing top):
GOBP_MITOCHONDRIAL_TRANSLATION, GOBP_TRANSLATION, GOMF_STRUCTURAL_CONSTITUENT_OF_RIBOSOME, GOCC_MITOCHONDRIAL_ENVELOPE, YAO_TEMPORAL_RESPONSE_TO_PROGESTERONE_CLUSTER_13, WONG_MITOCHONDRIA_GENE_MODULE, ZHANG_BREAST_CANCER_PROGENITORS_UP, ACEVEDO_LIVER_CANCER_UP, GOCC_RIBOSOME, NUYTTEN_EZH2_TARGETS_DN, GOCC_SMALL_RIBOSOMAL_SUBUNIT, GOCC_ORGANELLAR_RIBOSOME, GOCC_MITOCHONDRIAL_MATRIX, GOCC_ORGANELLE_INNER_MEMBRANE, MARSON_BOUND_BY_FOXP3_UNSTIMULATED
GO Biological Process (2): translation (GO:0006412), mitochondrial translation (GO:0032543)
GO Molecular Function (1): structural constituent of ribosome (GO:0003735)
GO Cellular Component (5): mitochondrion (GO:0005739), mitochondrial inner membrane (GO:0005743), mitochondrial small ribosomal subunit (GO:0005763), ribosome (GO:0005840), ribonucleoprotein complex (GO:1990904)
Reactome top-level categories
Rollup of top-3 pathways:
| Category | Pathways |
|---|---|
| Mitochondrial translation | 4 |
| Translation | 1 |
| Metabolism of proteins | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| peptidyltransferase activity | 1 |
| translational initiation | 1 |
| translational elongation | 1 |
| translational termination | 1 |
| macromolecule biosynthetic process | 1 |
| protein metabolic process | 1 |
| protein biosynthetic process | 1 |
| mitochondrion | 1 |
| translation | 1 |
| mitochondrial gene expression | 1 |
| structural molecule activity | 1 |
| ribosome | 1 |
| cytoplasm | 1 |
| intracellular membrane-bounded organelle | 1 |
| organelle inner membrane | 1 |
| mitochondrial membrane | 1 |
| organellar small ribosomal subunit | 1 |
| mitochondrial ribosome | 1 |
| mitochondrial protein-containing complex | 1 |
| intracellular membraneless organelle | 1 |
| protein-containing complex | 1 |
Protein interactions and networks
STRING
1708 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| MRPS33 | NDUFB2 | O95178 | 875 |
| MRPS33 | SSBP1 | Q04837 | 822 |
| MRPS33 | MRPS18B | Q9Y676 | 666 |
| MRPS33 | MRPL47 | Q9HD33 | 644 |
| MRPS33 | MRPS31 | Q92665 | 574 |
| MRPS33 | MRPS21 | P82921 | 555 |
| MRPS33 | MRPL45 | Q9BRJ2 | 541 |
| MRPS33 | NAXE | Q8NCW5 | 535 |
| MRPS33 | MRPL53 | Q96EL3 | 534 |
| MRPS33 | RPL8 | P25120 | 487 |
| MRPS33 | MRPL50 | Q8N5N7 | 476 |
| MRPS33 | MRPL54 | Q6P161 | 475 |
| MRPS33 | RPL29 | P47914 | 469 |
| MRPS33 | MRPS18A | Q9NVS2 | 464 |
| MRPS33 | NPEPL1 | Q8NDH3 | 458 |
IntAct
134 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| MED17 | MED19 | psi-mi:“MI:0914”(association) | 0.840 |
| NDUFS3 | NDUFS8 | psi-mi:“MI:0914”(association) | 0.730 |
| MRPS27 | MRPS14 | psi-mi:“MI:0914”(association) | 0.640 |
| ZNF169 | ZNF316 | psi-mi:“MI:0914”(association) | 0.530 |
| RPL18 | NOP56 | psi-mi:“MI:0914”(association) | 0.530 |
| ZBTB48 | ZBTB24 | psi-mi:“MI:0914”(association) | 0.530 |
| E4F1 | ZBTB24 | psi-mi:“MI:0914”(association) | 0.530 |
| MRPS15 | MRPS14 | psi-mi:“MI:0914”(association) | 0.530 |
| TRMT10B | MRPS14 | psi-mi:“MI:0914”(association) | 0.530 |
| PDGFB | DKC1 | psi-mi:“MI:0914”(association) | 0.530 |
| MRPS18B | MRPS14 | psi-mi:“MI:0914”(association) | 0.530 |
| SNRNP70 | GTPBP1 | psi-mi:“MI:0914”(association) | 0.530 |
| MRPS34 | ZZEF1 | psi-mi:“MI:0914”(association) | 0.530 |
| MRPS18C | MRPS14 | psi-mi:“MI:0914”(association) | 0.530 |
| MRPS15 | PRKACG | psi-mi:“MI:0914”(association) | 0.530 |
| MRPS27 | YBX1 | psi-mi:“MI:0914”(association) | 0.530 |
| MRPS26 | MRPS10 | psi-mi:“MI:0914”(association) | 0.530 |
| MRPL18 | GTPBP10 | psi-mi:“MI:0914”(association) | 0.530 |
| MRPL2 | GTPBP10 | psi-mi:“MI:0914”(association) | 0.530 |
| MRPS34 | MRPS12 | psi-mi:“MI:0914”(association) | 0.530 |
| MRPS11 | MRPS14 | psi-mi:“MI:0914”(association) | 0.530 |
| ABT1 | ZNF316 | psi-mi:“MI:0914”(association) | 0.530 |
| RPL18 | NAP1L1 | psi-mi:“MI:0914”(association) | 0.530 |
| AURKAIP1 | NRDC | psi-mi:“MI:0914”(association) | 0.480 |
BioGRID (199): MRPS33 (Affinity Capture-MS), MRPS33 (Affinity Capture-MS), MRPS33 (Affinity Capture-MS), MRPS33 (Affinity Capture-MS), MRPS33 (Affinity Capture-MS), MRPS33 (Affinity Capture-MS), MRPS33 (Affinity Capture-MS), MRPS33 (Affinity Capture-MS), MRPS33 (Affinity Capture-MS), MRPS33 (Affinity Capture-MS), MRPS33 (Affinity Capture-MS), MRPS33 (Affinity Capture-MS), MRPS33 (Affinity Capture-MS), MRPS33 (Affinity Capture-MS), MRPS33 (Affinity Capture-MS)
ESM2 similar proteins: A0A0K2GUJ4, A0A1D8PJ73, A3LN78, M9RZ95, O01369, O60169, O74533, P00128, P00129, P0CAB8, P14927, P30815, P33334, P34621, P38231, P46268, P49345, P53733, P82926, P90993, Q04697, Q09375, Q17439, Q22438, Q28GD1, Q54HY7, Q54QG4, Q5ABS1, Q5BJJ8, Q5RC24, Q61SE7, Q6BNL9, Q6BNQ5, Q6C3K7, Q6CTS4, Q6CUZ6, Q6FS31, Q6FSD7, Q6FSJ2, Q6PBR7
Diamond homologs: P82926, Q9D2R8, Q9Y291
SIGNOR signaling
1 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| MRPS33 | “form complex” | “28S mitochondrial small ribosomal subunit” | binding |
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 138 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 |
|---|---|---|---|
| Mitochondrial translation | 25 | 37.0× | 3e-31 |
| Mitochondrial ribosome-associated quality control | 26 | 34.3× | 3e-31 |
| Mitochondrial translation initiation | 25 | 34.1× | 2e-30 |
| Mitochondrial translation elongation | 25 | 34.1× | 2e-30 |
| Mitochondrial translation termination | 25 | 29.5× | 8e-29 |
| Translation | 28 | 18.7× | 1e-26 |
| Peptide chain elongation | 7 | 9.6× | 3e-04 |
| Viral mRNA Translation | 7 | 9.6× | 3e-04 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| mitochondrial translation | 26 | 35.6× | 6e-31 |
| translation | 18 | 14.6× | 1e-13 |
| cytoplasmic translation | 9 | 13.1× | 7e-06 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
20 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 1 |
| Likely pathogenic | 0 |
| Uncertain significance | 15 |
| Likely benign | 1 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (1)
| Variant ID | HGVS | Classification |
|---|---|---|
| 4682694 | GRCh37/hg19 7q33-36.3(chr7:137521595-159119707)x1 | Pathogenic |
SpliceAI
463 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 7:141006381:T:A | donor_gain | 1.0000 |
| 7:141006347:T:A | donor_gain | 0.9900 |
| 7:141006435:T:TA | donor_gain | 0.9900 |
| 7:141006531:CATCT:C | acceptor_gain | 0.9900 |
| 7:141006533:TCT:T | acceptor_gain | 0.9900 |
| 7:141006534:CT:C | acceptor_gain | 0.9900 |
| 7:141006534:CTC:C | acceptor_gain | 0.9900 |
| 7:141006535:TCT:T | acceptor_gain | 0.9900 |
| 7:141006536:C:A | acceptor_gain | 0.9900 |
| 7:141006536:C:CC | acceptor_gain | 0.9900 |
| 7:141006328:T:TA | donor_gain | 0.9800 |
| 7:141006535:TC:T | acceptor_loss | 0.9800 |
| 7:141006536:C:CA | acceptor_loss | 0.9800 |
| 7:141010393:AGGTC:A | donor_gain | 0.9700 |
| 7:141006532:ATCT:A | acceptor_gain | 0.9600 |
| 7:141006540:A:AC | acceptor_gain | 0.9600 |
| 7:141014912:TAG:T | donor_gain | 0.9600 |
| 7:141014913:AGA:A | donor_gain | 0.9600 |
| 7:141006454:C:A | donor_gain | 0.9500 |
| 7:141010413:CATCA:C | donor_loss | 0.9500 |
| 7:141010414:ATCAC:A | donor_loss | 0.9500 |
| 7:141010415:TCAC:T | donor_loss | 0.9500 |
| 7:141010416:CA:C | donor_loss | 0.9500 |
| 7:141010417:A:T | donor_loss | 0.9500 |
| 7:141010418:CCT:C | donor_loss | 0.9500 |
| 7:141010419:C:G | donor_loss | 0.9500 |
| 7:141006411:C:CA | donor_gain | 0.9200 |
| 7:141014820:ATT:A | donor_gain | 0.9200 |
| 7:141010420:T:C | donor_loss | 0.9000 |
| 7:141010485:T:C | donor_gain | 0.9000 |
AlphaMissense
0 scored. Top likely-pathogenic:
dbSNP variants (sampled 300 via entrez): RS1000112170 (7:141013613 C>G), RS1001017135 (7:141007903 C>G), RS1001030070 (7:141008252 AT>A), RS1001065416 (7:141015050 GA>G), RS1001225004 (7:141014375 G>A), RS1001535273 (7:141014767 G>A), RS1001579833 (7:141013125 C>T), RS1001632113 (7:141013488 A>G), RS1001814706 (7:141007488 A>G), RS1001870045 (7:141003097 C>T), RS1001915210 (7:141014829 G>A,T), RS1002278470 (7:141015287 T>C), RS1002577017 (7:141002499 C>T), RS1002800789 (7:141009383 C>A,T), RS1002875093 (7:141004634 C>G)
Disease associations
OMIM: gene MIM:611993 | disease phenotypes:
GenCC curated gene-disease
Mondo (1): autism spectrum disorder (MONDO:0005258)
Orphanet (1): NON RARE IN EUROPE: Autism (Orphanet:106)
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
6 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST003070_2 | Cerebrospinal T-tau levels | 3.000000e-07 |
| GCST003079_5 | Cerebrospinal fluid t-tau:AB1-42 ratio | 7.000000e-06 |
| GCST008103_6 | Bipolar disorder | 6.000000e-10 |
| GCST009600_92 | Anorexia nervosa, attention-deficit/hyperactivity disorder, autism spectrum disorder, bipolar disorder, major depression, obsessive-compulsive disorder, schizophrenia, or Tourette syndrome (pleiotropy) | 5.000000e-09 |
| GCST012465_56 | Bipolar disorder | 2.000000e-08 |
| GCST90020029_902 | Waist circumference adjusted for body mass index | 4.000000e-09 |
EFO canonical traits (3, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0004760 | t-tau measurement |
| EFO:0007708 | t-tau:beta-amyloid 1-42 ratio measurement |
| EFO:0007789 | BMI-adjusted waist circumference |
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 |
|---|---|---|
| sodium arsenite | increases abundance, increases expression, decreases expression | 3 |
| arsenite | decreases methylation, affects binding, increases reaction | 2 |
| Acetaminophen | affects cotreatment, decreases expression, increases expression | 2 |
| aristolochic acid I | increases expression | 1 |
| beta-lapachone | decreases expression | 1 |
| manganese chloride | increases abundance, increases expression | 1 |
| beta-methylcholine | affects expression | 1 |
| di-n-butylphosphoric acid | affects expression | 1 |
| CGP 52608 | affects binding, increases reaction | 1 |
| corosolic acid | decreases expression | 1 |
| K 7174 | decreases expression | 1 |
| bisphenol S | decreases methylation | 1 |
| Resveratrol | affects cotreatment, increases expression | 1 |
| Sunitinib | increases expression | 1 |
| Arsenic | increases expression, increases abundance | 1 |
| Atrazine | decreases expression | 1 |
| Vehicle Emissions | decreases methylation | 1 |
| Benzo(a)pyrene | decreases methylation | 1 |
| Camptothecin | increases expression | 1 |
| Doxorubicin | decreases expression | 1 |
| Estradiol | decreases expression | 1 |
| Ivermectin | decreases expression | 1 |
| Lipopolysaccharides | affects cotreatment, decreases expression | 1 |
| Manganese | increases abundance, increases expression | 1 |
| Plant Extracts | affects cotreatment, increases expression | 1 |
| Ribonucleotides | affects binding | 1 |
| Selenium | decreases expression | 1 |
| Urethane | decreases expression | 1 |
| Isotretinoin | decreases expression | 1 |
| Aflatoxin B1 | decreases methylation | 1 |
Clinical trials (associated diseases)
300 trials via MONDO — disease-level, not drug-specific.
| Trial | Phase | Status | Title |
|---|---|---|---|
| NCT00391261 | PHASE4 | COMPLETED | An Open-label Trial of Metformin for Weight Control of Pediatric Patients on Antipsychotic Medications. |
| NCT01028820 | PHASE4 | COMPLETED | FMRI Brain Activation of Aripiprazole Treatment in Autism Spectrum Disorders |
| NCT01333865 | PHASE4 | COMPLETED | A Study of Memantine Hydrochloride (Namenda®) for Cognitive and Behavioral Impairment in Adults With Autism Spectrum Disorders |
| NCT01337700 | PHASE4 | COMPLETED | Milnacipran in Autism and the Functional Locus Coeruleus and Noradrenergic Model of Autism |
| NCT01695200 | PHASE4 | COMPLETED | Omega-3 Fatty Acids in Autism Spectrum Disorders |
| NCT02096952 | PHASE4 | COMPLETED | Methylphenidate ER Liquid Formulation in Adults With ASD and ADHD |
| NCT02235467 | PHASE4 | COMPLETED | Multisite Study: Parental Training Using Video Modelling to Develop Social Skills in Children With Autism |
| NCT02940574 | PHASE4 | COMPLETED | Neural and Behavioral Effects of Oxytocin in Autism Spectrum Disorders |
| NCT03333629 | PHASE4 | COMPLETED | Promoting Positive Outcomes for Individuals With ASD: Linking Early Detection, Treatment, and Long-term Outcomes |
| NCT03337646 | PHASE4 | COMPLETED | Evaluation of the Effect and Safety of Lisdexamfetamine in Children Aged 6-12 With ADHD and Autism |
| NCT03538431 | PHASE4 | COMPLETED | Improving Driving in Young People With Autism Spectrum Disorders |
| NCT03757585 | PHASE4 | COMPLETED | Natural Treatments for the Management of Emotional Dysregulation in Youth With Non-verbal Learning Disability (NVLD) and/or Autism Spectrum Disorders (ASD) |
| NCT04903353 | PHASE4 | COMPLETED | Pragmatic Trial Comparing Weight Gain in Children With Autism Taking Risperidone Versus Aripiprazole |
| NCT05063656 | PHASE4 | COMPLETED | Biomarker-Driven Pharmacological Treatment of Adolescents With Autism Spectrum Disorder With Gabapentin |
| NCT05146245 | PHASE4 | UNKNOWN | Safety and Pharmacokinetics of Antipsychotics in Children 2: Studying TDM in an RCT |
| NCT05916339 | PHASE4 | RECRUITING | AWARE: Management of ADHD in Autism Spectrum Disorder |
| NCT05954052 | PHASE4 | TERMINATED | A Study of Glutathione in Children With Autism Spectrum Disorder |
| NCT06853665 | PHASE4 | RECRUITING | The TEAM Study - Treatment Efficacy for Autism/Attention Using Mixed Amphetamine |
| NCT07054697 | PHASE4 | COMPLETED | Pilot-RCT With Individualized Homeopathic Treatment in the Children With Autism Spectrum Disorder |
| NCT07161804 | PHASE4 | COMPLETED | Pilot RCT Using Homeopathic Medicines in ASD |
| NCT07439042 | PHASE4 | NOT_YET_RECRUITING | Buspirone for Anxiety in Autistic Youth |
| NCT01302964 | PHASE3 | COMPLETED | Mirtazapine Treatment of Anxiety in Children and Adolescents With Pervasive Developmental Disorders |
| NCT01706523 | PHASE3 | TERMINATED | Open Label Extension Study of STX209 (Arbaclofen) in Autism Spectrum Disorders |
| NCT01825798 | PHASE3 | COMPLETED | Treatment of Overweight Induced by Antipsychotic Medication in Young People With Autism Spectrum Disorders (ASD) |
| NCT01972074 | PHASE3 | COMPLETED | Behavioral and Neural Response to Memantine in Adolescents With Autism Spectrum Disorder |
| NCT02985749 | PHASE3 | COMPLETED | A Study of Oxytocin for the Treatment of Social Impairment in Individuals With High Functioning Autism Spectrum Disorder |
| NCT03197922 | PHASE3 | COMPLETED | Treatment of Encopresis in Children With Autism Spectrum Disorders |
| NCT03504917 | PHASE3 | TERMINATED | A Study of Balovaptan in Adults With Autism Spectrum Disorder With a 2-Year Open-Label Extension |
| NCT03553875 | PHASE3 | TERMINATED | Memantine for the Treatment of Social Deficits in Youth With Disorders of Impaired Social Interactions |
| NCT03640156 | PHASE3 | COMPLETED | Modulating Socially Adaptive Mirror System Functioning in Autism by Oxytocin |
| NCT03715153 | PHASE3 | TERMINATED | Efficacy and Safety of Bumetanide Oral Liquid Formulation in Children Aged From 2 to Less Than 7 Years Old With Autism Spectrum Disorder. |
| NCT03715166 | PHASE3 | TERMINATED | Efficacy and Safety of Bumetanide Oral Liquid Formulation in Children and Adolescents Aged From 7 to Less Than 18 Years Old With Autism Spectrum Disorder |
| NCT04233502 | PHASE3 | WITHDRAWN | Efficacy and Safety of Slenyto for Insomnia in Children With ASD |
| NCT04578756 | PHASE3 | COMPLETED | Open-Label, Flexible-dose Study to Evaluate the Long-Term Safety and Tolerability of Cariprazine in the Treatment of Pediatric Participants With Schizophrenia, Bipolar I Disorder, or Autism Spectrum Disorder |
| NCT04623398 | PHASE3 | COMPLETED | Effect of Lithium in Patients With Autism Spectrum Disorder and Phelan-McDermid Syndrome (SHANK3 Haploinsufficiency) |
| NCT04725383 | PHASE3 | TERMINATED | Amitriptyline for Repetitive Behaviors in Autism Spectrum Disorders |
| NCT05212493 | PHASE3 | COMPLETED | The Effects of Medical Cannabis in Children With Autistic Spectrum Disorder |
| NCT05361707 | PHASE3 | UNKNOWN | Evaluating the Effects of Tasimelteon in Individuals With Autism Spectrum Disorder (ASD) and Sleep Disturbances |
| NCT05439616 | PHASE3 | COMPLETED | Study of Cariprazine Oral Capsules or Solution to Assess Adverse Events and Change in Irritability Due to Autism Spectrum Disorder (ASD) in Participants Aged 5-17 Years With ASD |
| NCT06229210 | PHASE3 | RECRUITING | Safety and Tolerability Trial of Lumateperone in Pediatric Patients With Schizophrenia, Bipolar Disorder or Autism Spectrum Disorder |
Related Atlas pages
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): anorexia nervosa, obsessive-compulsive disorder