MRPL42
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Also known as MRPS32MRP-L31RPML31PTD007HSPC204MRPL31mL42
Summary
MRPL42 (mitochondrial ribosomal protein L42, HGNC:14493) is a protein-coding gene on chromosome 12q22, encoding Large ribosomal subunit protein mL42 (Q9Y6G3).
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. This gene encodes a protein identified as belonging to both the 28S and the 39S subunits. Alternative splicing results in multiple transcript variants. Pseudogenes corresponding to this gene are found on chromosomes 4q, 6p, 6q, 7p, and 15q.
Source: NCBI Gene 28977 — RefSeq curated summary.
At a glance
- Gene–disease (curated): complex neurodevelopmental disorder (Limited, GenCC)
- GWAS associations: 3
- Clinical variants (ClinVar): 32 total — 1 pathogenic
- MANE Select transcript:
NM_014050
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:14493 |
| Approved symbol | MRPL42 |
| Name | mitochondrial ribosomal protein L42 |
| Location | 12q22 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | MRPS32, MRP-L31, RPML31, PTD007, HSPC204, MRPL31, mL42 |
| Ensembl gene | ENSG00000198015 |
| Ensembl biotype | protein_coding |
| OMIM | 611847 |
| Entrez | 28977 |
Gene structure
Transcript identifiers
Ensembl transcripts: 26 — 21 protein_coding, 3 nonsense_mediated_decay, 2 protein_coding_CDS_not_defined
ENST00000358678, ENST00000393128, ENST00000547098, ENST00000548545, ENST00000549561, ENST00000549982, ENST00000551396, ENST00000552217, ENST00000552326, ENST00000552938, ENST00000873991, ENST00000873992, ENST00000873993, ENST00000873994, ENST00000873995, ENST00000873996, ENST00000873997, ENST00000873998, ENST00000919736, ENST00000919737, ENST00000919738, ENST00000919739, ENST00000919740, ENST00000919741, ENST00000919742, ENST00000919743
RefSeq mRNA: 2 — MANE Select: NM_014050
NM_014050, NM_172177
CCDS: CCDS9045
Canonical transcript exons
ENST00000549982 — 6 exons
| Exon | Start | End |
|---|---|---|
| ENSE00002367395 | 93467514 | 93467554 |
| ENSE00002389794 | 93501176 | 93516214 |
| ENSE00003503758 | 93476954 | 93477017 |
| ENSE00003520696 | 93487497 | 93487660 |
| ENSE00003552476 | 93469192 | 93469355 |
| ENSE00003609549 | 93479388 | 93479472 |
Expression profiles
Bgee: expression breadth ubiquitous, 284 present calls, max score 97.87.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 39.7601 / max 1099.5960, expressed in 1802 samples.
FANTOM5 promoters (2 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 127351 | 36.4475 | 1801 |
| 127350 | 3.3126 | 1408 |
Top tissues by expression
287 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| adrenal tissue | UBERON:0018303 | 97.87 | gold quality |
| islet of Langerhans | UBERON:0000006 | 97.44 | gold quality |
| ganglionic eminence | UBERON:0004023 | 96.27 | gold quality |
| rectum | UBERON:0001052 | 95.51 | gold quality |
| embryo | UBERON:0000922 | 94.86 | gold quality |
| sperm | CL:0000019 | 94.55 | gold quality |
| endothelial cell | CL:0000115 | 94.44 | gold quality |
| ventricular zone | UBERON:0003053 | 94.02 | gold quality |
| right testis | UBERON:0004534 | 93.77 | gold quality |
| left testis | UBERON:0004533 | 93.75 | gold quality |
| primordial germ cell in gonad | CL:0000670 ∩ UBERON:0000991 | 93.70 | gold quality |
| right adrenal gland cortex | UBERON:0035827 | 93.37 | gold quality |
| heart right ventricle | UBERON:0002080 | 93.25 | gold quality |
| left ventricle myocardium | UBERON:0006566 | 93.21 | gold quality |
| testis | UBERON:0000473 | 93.14 | gold quality |
| male germ cell | CL:0000015 | 93.10 | gold quality |
| calcaneal tendon | UBERON:0003701 | 93.06 | gold quality |
| right adrenal gland | UBERON:0001233 | 92.96 | gold quality |
| myocardium | UBERON:0002349 | 92.80 | gold quality |
| left adrenal gland | UBERON:0001234 | 92.77 | gold quality |
| adrenal gland | UBERON:0002369 | 92.47 | gold quality |
| mucosa of sigmoid colon | UBERON:0004993 | 92.46 | gold quality |
| gall bladder | UBERON:0002110 | 92.32 | gold quality |
| stromal cell of endometrium | CL:0002255 | 92.29 | gold quality |
| left adrenal gland cortex | UBERON:0035825 | 92.28 | gold quality |
| smooth muscle tissue | UBERON:0001135 | 92.19 | gold quality |
| cardiac muscle of right atrium | UBERON:0003379 | 92.07 | gold quality |
| colonic mucosa | UBERON:0000317 | 92.04 | gold quality |
| olfactory segment of nasal mucosa | UBERON:0005386 | 91.95 | gold quality |
| endometrium | UBERON:0001295 | 91.91 | gold quality |
Single-cell (SCXA)
Detected in 3 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 14.44 |
| E-MTAB-6819 | no | 1217.60 |
| E-MTAB-9388 | no | 13.82 |
Regulation
Is transcription factor: no
Upstream regulators (CollecTRI, top): TP63
miRNA regulators (miRDB)
98 targeting MRPL42, 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-6740-5P | 100.00 | 65.64 | 932 |
| HSA-MIR-3646 | 100.00 | 73.56 | 5283 |
| HSA-MIR-1277-5P | 100.00 | 73.95 | 5056 |
| HSA-MIR-6833-3P | 100.00 | 70.63 | 3197 |
| HSA-MIR-8485 | 100.00 | 77.57 | 4731 |
| HSA-MIR-4768-5P | 100.00 | 69.49 | 2861 |
| HSA-MIR-548P | 99.98 | 72.25 | 3784 |
| HSA-MIR-3688-3P | 99.97 | 72.02 | 2834 |
| HSA-MIR-3148 | 99.97 | 75.06 | 6478 |
| HSA-MIR-302E | 99.96 | 70.74 | 2669 |
| HSA-MIR-1468-3P | 99.96 | 72.74 | 3797 |
| HSA-MIR-590-3P | 99.96 | 74.34 | 6478 |
| HSA-MIR-96-5P | 99.95 | 72.80 | 2140 |
| HSA-MIR-101-3P | 99.94 | 75.03 | 2230 |
| HSA-MIR-335-3P | 99.93 | 73.36 | 4958 |
| HSA-MIR-539-5P | 99.93 | 70.30 | 2855 |
| HSA-MIR-3143 | 99.93 | 71.96 | 3104 |
| HSA-MIR-6835-3P | 99.93 | 70.49 | 2904 |
| HSA-MIR-12133 | 99.92 | 71.82 | 2006 |
| HSA-MIR-6508-5P | 99.92 | 70.67 | 2465 |
| HSA-MIR-1271-5P | 99.91 | 71.99 | 1972 |
| HSA-MIR-6809-3P | 99.91 | 71.45 | 3814 |
| HSA-MIR-374A-5P | 99.90 | 71.34 | 2923 |
| HSA-MIR-374B-5P | 99.90 | 69.98 | 2734 |
| HSA-MIR-302A-3P | 99.89 | 71.23 | 1777 |
| HSA-MIR-302B-3P | 99.89 | 71.23 | 1777 |
| HSA-MIR-302C-3P | 99.89 | 71.20 | 1778 |
| HSA-MIR-302D-3P | 99.89 | 71.25 | 1777 |
| HSA-MIR-153-5P | 99.89 | 73.86 | 6317 |
| HSA-MIR-8067 | 99.86 | 69.59 | 2260 |
Literature-anchored findings (GeneRIF, showing 2)
- MPO and BPI in CD4(+)T-lymphocytes, and PDHA1 and MRPL42 in CD8(+) T-lymphocytes might be used as specific biomarkers of severe asthma progression. (PMID:26107902)
- MRPL42 is a novel oncogene in glioma and might help us develop promising targetted therapies for glioma patients. (PMID:29531015)
Cross-species orthologs
4 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| mus_musculus | Mrpl42 | ENSMUSG00000062981 |
| rattus_norvegicus | Mrpl42l1 | ENSRNOG00000025964 |
| rattus_norvegicus | ENSRNOG00000031132 | |
| rattus_norvegicus | Mrpl42 | ENSRNOG00000042740 |
Protein
Protein identifiers
Large ribosomal subunit protein mL42 — Q9Y6G3 (reviewed: Q9Y6G3)
Alternative names: 39S ribosomal protein L31, mitochondrial, 39S ribosomal protein L42, mitochondrial
All UniProt accessions (6): Q9Y6G3, F8VVR0, J3KP21, J3KPP0, S4R2Z7, S4R360
UniProt curated annotations — full annotation on UniProt →
Subunit / interactions. Component of the mitochondrial large ribosomal subunit (mt-LSU). 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 mL42 family.
RefSeq proteins (2): NP_054769, NP_751917 (=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR019346 | Ribosomal_mL42 | Family |
Pfam: PF10210
UniProt features (9 total): helix 4, strand 3, transit peptide 1, chain 1
Structure
Experimental structures (PDB)
85 structures, top 30 by resolution.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 7OF0 | ELECTRON MICROSCOPY | 2.2 |
| 7QI4 | ELECTRON MICROSCOPY | 2.21 |
| 8RRI | ELECTRON MICROSCOPY | 2.4 |
| 8QU5 | ELECTRON MICROSCOPY | 2.42 |
| 9OLF | ELECTRON MICROSCOPY | 2.46 |
| 7OF7 | ELECTRON MICROSCOPY | 2.5 |
| 7PO4 | ELECTRON MICROSCOPY | 2.56 |
| 6ZM6 | ELECTRON MICROSCOPY | 2.59 |
| 7O9M | ELECTRON MICROSCOPY | 2.6 |
| 7OF6 | ELECTRON MICROSCOPY | 2.6 |
| 9CN3 | ELECTRON MICROSCOPY | 2.62 |
| 7QI5 | ELECTRON MICROSCOPY | 2.63 |
| 7OF2 | ELECTRON MICROSCOPY | 2.7 |
| 7OF3 | ELECTRON MICROSCOPY | 2.7 |
| 7OF4 | ELECTRON MICROSCOPY | 2.7 |
| 9PR4 | ELECTRON MICROSCOPY | 2.77 |
| 9PRA | ELECTRON MICROSCOPY | 2.83 |
| 8ANY | ELECTRON MICROSCOPY | 2.85 |
| 6ZM5 | ELECTRON MICROSCOPY | 2.89 |
| 7QH7 | ELECTRON MICROSCOPY | 2.89 |
| 7ODR | ELECTRON MICROSCOPY | 2.9 |
| 7OF5 | ELECTRON MICROSCOPY | 2.9 |
| 8K2A | ELECTRON MICROSCOPY | 2.9 |
| 8OIT | ELECTRON MICROSCOPY | 2.9 |
| 9PGL | ELECTRON MICROSCOPY | 2.9 |
| 9PGF | ELECTRON MICROSCOPY | 2.93 |
| 6VMI | ELECTRON MICROSCOPY | 2.96 |
| 6VLZ | ELECTRON MICROSCOPY | 2.97 |
| 7QI6 | ELECTRON MICROSCOPY | 2.98 |
| 9PSM | ELECTRON MICROSCOPY | 2.98 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q9Y6G3-F1 | 75.26 | 0.41 |
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: 182 (showing top):
RODRIGUES_THYROID_CARCINOMA_ANAPLASTIC_UP, RODRIGUES_THYROID_CARCINOMA_POORLY_DIFFERENTIATED_UP, STARK_PREFRONTAL_CORTEX_22Q11_DELETION_DN, CHIANG_LIVER_CANCER_SUBCLASS_UNANNOTATED_DN, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_DN, GOBP_MITOCHONDRIAL_TRANSLATION, PATIL_LIVER_CANCER, GOBP_TRANSLATION, WEI_MYCN_TARGETS_WITH_E_BOX, ROZANOV_MMP14_TARGETS_UP, GOMF_STRUCTURAL_CONSTITUENT_OF_RIBOSOME, MODULE_206, GOCC_MITOCHONDRIAL_ENVELOPE, DODD_NASOPHARYNGEAL_CARCINOMA_UP, MAYBURD_RESPONSE_TO_L663536_DN
GO Biological Process (2): translation (GO:0006412), mitochondrial translation (GO:0032543)
GO Molecular Function (2): RNA binding (GO:0003723), structural constituent of ribosome (GO:0003735)
GO Cellular Component (8): mitochondrion (GO:0005739), mitochondrial inner membrane (GO:0005743), mitochondrial large ribosomal subunit (GO:0005762), mitochondrial small ribosomal subunit (GO:0005763), plasma membrane (GO:0005886), ribosome (GO:0005840), membrane (GO:0016020), 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 |
|---|---|
| mitochondrial ribosome | 2 |
| mitochondrial protein-containing complex | 2 |
| 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 |
| nucleic acid binding | 1 |
| structural molecule activity | 1 |
| ribosome | 1 |
| cytoplasm | 1 |
| intracellular membrane-bounded organelle | 1 |
| organelle inner membrane | 1 |
| mitochondrial membrane | 1 |
| organellar large ribosomal subunit | 1 |
| organellar small ribosomal subunit | 1 |
| membrane | 1 |
| cell periphery | 1 |
| intracellular membraneless organelle | 1 |
| cellular anatomical structure | 1 |
| protein-containing complex | 1 |
Protein interactions and networks
STRING
1484 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| MRPL42 | KGD4 | P82909 | 630 |
| MRPL42 | MRPL37 | Q9BZE1 | 615 |
| MRPL42 | DAP3 | P51398 | 589 |
| MRPL42 | MRPS18C | Q9Y3D5 | 587 |
| MRPL42 | MRPL41 | Q8IXM3 | 585 |
| MRPL42 | MRPL32 | Q9BYC8 | 574 |
| MRPL42 | PTCD3 | Q96EY7 | 543 |
| MRPL42 | CHCHD1 | Q96BP2 | 525 |
| MRPL42 | MRPL47 | Q9HD33 | 494 |
| MRPL42 | QRICH2 | Q9H0J4 | 491 |
| MRPL42 | MRPS18B | Q9Y676 | 488 |
| MRPL42 | MRPS18A | Q9NVS2 | 488 |
| MRPL42 | EMC4 | Q5J8M3 | 486 |
| MRPL42 | MRPL16 | Q9NX20 | 484 |
| MRPL42 | MRPL1 | Q9BYD6 | 478 |
IntAct
65 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| TEPSIN | AP4M1 | psi-mi:“MI:0914”(association) | 0.700 |
| LIN28A | IGF2BP3 | psi-mi:“MI:0914”(association) | 0.640 |
| MRPL42 | GATC | psi-mi:“MI:0914”(association) | 0.530 |
| YBX1 | IGF2BP3 | psi-mi:“MI:0914”(association) | 0.530 |
| MRPL13 | GTPBP10 | psi-mi:“MI:0914”(association) | 0.530 |
| MRPL18 | GTPBP10 | psi-mi:“MI:0914”(association) | 0.530 |
| ABT1 | ZNF316 | psi-mi:“MI:0914”(association) | 0.530 |
| NDUFAB1 | MIEF1 | psi-mi:“MI:0915”(physical association) | 0.490 |
| rev | TMED10 | psi-mi:“MI:0914”(association) | 0.460 |
| psi-mi:“MI:0914”(association) | 0.350 | ||
| ATAD3A | TMEM223 | psi-mi:“MI:0914”(association) | 0.350 |
| RASA1 | MYO1C | psi-mi:“MI:0914”(association) | 0.350 |
| ARPC2 | psi-mi:“MI:0914”(association) | 0.350 | |
| H1-7 | psi-mi:“MI:0914”(association) | 0.350 | |
| S100A2 | PLEKHG3 | psi-mi:“MI:0914”(association) | 0.350 |
| FAM120A | GTPBP10 | psi-mi:“MI:0914”(association) | 0.350 |
| MRPL33 | psi-mi:“MI:0914”(association) | 0.350 | |
| MRPL53 | psi-mi:“MI:0914”(association) | 0.350 | |
| MRPL51 | psi-mi:“MI:0914”(association) | 0.350 | |
| MRPL42 | psi-mi:“MI:0914”(association) | 0.350 | |
| MRPL52 | psi-mi:“MI:0914”(association) | 0.350 | |
| RPL37 | psi-mi:“MI:0914”(association) | 0.350 | |
| YBX2 | psi-mi:“MI:0914”(association) | 0.350 | |
| RBMS2 | ZNF275 | psi-mi:“MI:0914”(association) | 0.350 |
| PRR3 | RBM47 | psi-mi:“MI:0914”(association) | 0.350 |
| MRPL42 | UBA6 | psi-mi:“MI:0914”(association) | 0.350 |
| FAHD1 | VWA8 | psi-mi:“MI:0914”(association) | 0.350 |
| NEIL1 | GTPBP10 | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (344): MRPL42 (Affinity Capture-MS), MRPL42 (Affinity Capture-MS), MRPL42 (Affinity Capture-MS), MRPL42 (Affinity Capture-MS), MRPL42 (Affinity Capture-MS), MRPL42 (Affinity Capture-MS), MRPL42 (Affinity Capture-MS), MRPL42 (Affinity Capture-MS), MRPL42 (Affinity Capture-MS), MRPL42 (Affinity Capture-MS), MRPL42 (Affinity Capture-MS), MRPL42 (Affinity Capture-MS), MRPL42 (Affinity Capture-MS), MRPS30 (Affinity Capture-MS), MRPL50 (Affinity Capture-MS)
ESM2 similar proteins: A3KP48, A8WGU8, O09111, O43674, O95169, O95178, P0C2B7, P0C2B9, P0CB69, P0CB70, P0CB85, P0CB86, P82649, P82927, P83565, Q02372, Q02380, Q0MQC7, Q0MQC9, Q0MQD6, Q0MQD7, Q0MQD8, Q0MQE6, Q0MQE7, Q0MQF5, Q0MQJ3, Q0MQJ4, Q0MQJ5, Q29259, Q2NKR7, Q4G0I0, Q4QQV3, Q4R4E0, Q5R4S3, Q5R504, Q5RFR4, Q6DQX6, Q6RUT7, Q8HXG5, Q96A26
Diamond homologs: P0C2B9, P82927, Q5R4S3, Q9CPV3, Q9Y6G3
SIGNOR signaling
1 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| MRPL42 | “form complex” | “39S mitochondrial large ribosomal subunit” | binding |
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 66 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 ribosome-associated quality control | 18 | 50.2× | 6e-25 |
| Mitochondrial translation | 15 | 46.9× | 1e-20 |
| Mitochondrial translation initiation | 16 | 46.1× | 1e-21 |
| Mitochondrial translation elongation | 16 | 46.1× | 1e-21 |
| Mitochondrial translation termination | 16 | 39.9× | 9e-21 |
| Translation | 15 | 21.2× | 3e-15 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| mitochondrial translation | 17 | 50.1× | 1e-22 |
| translation | 11 | 19.2× | 1e-09 |
| negative regulation of translation | 5 | 16.6× | 1e-03 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
32 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 1 |
| Likely pathogenic | 0 |
| Uncertain significance | 21 |
| Likely benign | 0 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (1)
| Variant ID | HGVS | Classification |
|---|---|---|
| 4071942 | NM_014050.4(MRPL42):c.219+6T>A | Pathogenic |
SpliceAI
1416 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 12:93467551:CAAG:C | donor_loss | 1.0000 |
| 12:93467552:AAGGT:A | donor_loss | 1.0000 |
| 12:93467553:AG:A | donor_loss | 1.0000 |
| 12:93467555:GT:G | donor_loss | 1.0000 |
| 12:93469356:G:GG | donor_gain | 1.0000 |
| 12:93476940:T:TA | acceptor_gain | 1.0000 |
| 12:93476941:G:A | acceptor_gain | 1.0000 |
| 12:93479469:AAAAG:A | donor_loss | 1.0000 |
| 12:93479470:AAA:A | donor_gain | 1.0000 |
| 12:93479471:AAG:A | donor_loss | 1.0000 |
| 12:93479472:AGTA:A | donor_loss | 1.0000 |
| 12:93479473:G:A | donor_loss | 1.0000 |
| 12:93479473:G:GG | donor_gain | 1.0000 |
| 12:93479474:T:A | donor_loss | 1.0000 |
| 12:93487483:T:A | acceptor_gain | 1.0000 |
| 12:93487495:A:AG | acceptor_gain | 1.0000 |
| 12:93487496:G:GT | acceptor_gain | 1.0000 |
| 12:93487496:GC:G | acceptor_gain | 1.0000 |
| 12:93487496:GCC:G | acceptor_gain | 1.0000 |
| 12:93487496:GCCT:G | acceptor_gain | 1.0000 |
| 12:93487496:GCCTA:G | acceptor_gain | 1.0000 |
| 12:93487656:GGACG:G | donor_gain | 1.0000 |
| 12:93487657:GACG:G | donor_gain | 1.0000 |
| 12:93487657:GACGG:G | donor_gain | 1.0000 |
| 12:93487658:ACG:A | donor_gain | 1.0000 |
| 12:93487659:CG:C | donor_gain | 1.0000 |
| 12:93487660:GG:G | donor_gain | 1.0000 |
| 12:93487661:G:GA | donor_loss | 1.0000 |
| 12:93487661:G:GG | donor_gain | 1.0000 |
| 12:93501297:G:GG | donor_gain | 1.0000 |
AlphaMissense
0 scored. Top likely-pathogenic:
dbSNP variants (sampled 300 via entrez): RS1000150608 (12:93497163 T>C), RS1000161991 (12:93497363 A>T), RS1000194108 (12:93489076 TAATG>T), RS1000308793 (12:93513905 C>G), RS1000322548 (12:93495931 TAAA>T), RS1000428127 (12:93489473 A>C,G), RS1000438770 (12:93495742 G>A,C), RS1000458052 (12:93505047 C>T), RS1000508935 (12:93467513 G>A), RS1000515893 (12:93483523 T>G), RS1000683140 (12:93471782 G>A), RS1000731298 (12:93509149 C>T), RS1000764409 (12:93489695 T>C), RS1000902483 (12:93472094 G>A), RS1000914406 (12:93515429 G>A,T)
Disease associations
OMIM: gene MIM:611847 | disease phenotypes:
GenCC curated gene-disease
| Disease | Classification | Inheritance |
|---|---|---|
| complex neurodevelopmental disorder | Limited | Autosomal recessive |
Mondo (1): complex neurodevelopmental disorder (MONDO:0100038)
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
3 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST000175_22 | Height | 2.000000e-07 |
| GCST005723_3 | Peanut allergy (maternal genetic effects) | 9.000000e-06 |
| GCST005991_19 | Platelet count | 2.000000e-08 |
EFO canonical traits (3, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0005939 | parental genotype effect measurement |
| EFO:0007017 | peanut allergy measurement |
| EFO:0004309 | platelet count |
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, decreases expression, increases abundance, affects expression | 3 |
| Valproic Acid | affects expression, decreases expression | 3 |
| sodium arsenite | decreases expression | 2 |
| Ozone | affects cotreatment, decreases expression, increases abundance, affects expression | 2 |
| Tretinoin | decreases expression | 2 |
| dicrotophos | decreases expression | 1 |
| alpha-pinene | affects cotreatment, decreases expression, increases abundance | 1 |
| bisphenol A | decreases expression | 1 |
| beta-lapachone | increases expression | 1 |
| arsenite | increases reaction, affects binding | 1 |
| cobaltous chloride | decreases expression | 1 |
| perfluorooctanoic acid | decreases expression | 1 |
| methacrylaldehyde | affects cotreatment, decreases expression, increases abundance | 1 |
| beta-methylcholine | affects expression | 1 |
| di-n-butylphosphoric acid | affects expression | 1 |
| cylindrospermopsin | increases expression | 1 |
| CGP 52608 | affects binding, increases reaction | 1 |
| K 7174 | decreases expression | 1 |
| jinfukang | decreases expression | 1 |
| Temozolomide | increases expression | 1 |
| Arsenic Trioxide | decreases expression | 1 |
| Acetaminophen | decreases expression | 1 |
| Acrolein | affects cotreatment, decreases expression, increases abundance | 1 |
| Atrazine | decreases expression | 1 |
| Dimethyl Sulfoxide | decreases expression | 1 |
| Hydrogen Peroxide | affects expression | 1 |
| Methyl Methanesulfonate | decreases expression | 1 |
| Ribonucleotides | affects binding | 1 |
| Tunicamycin | decreases expression | 1 |
| Aflatoxin B1 | increases expression | 1 |
Clinical trials (associated diseases)
2 trials via MONDO — disease-level, not drug-specific.
| Trial | Phase | Status | Title |
|---|---|---|---|
| NCT06310681 | Not specified | COMPLETED | Pilot Testing of a Co-adapted Group Programme for Parents/Carers of Children With Complex Neurodisability |
| NCT07303049 | Not specified | NOT_YET_RECRUITING | Cognitive Benefit of Intensive Rehabilitation Using Rhythmic Music Training in Children With Complex Neurodevelopmental Disorder |
Related Atlas pages
- Associated diseases: complex neurodevelopmental disorder
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): complex neurodevelopmental disorder