MRPL35
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Also known as bL35m
Summary
MRPL35 (mitochondrial ribosomal protein L35, HGNC:14489) is a protein-coding gene on chromosome 2p11.2, encoding Large ribosomal subunit protein bL35m (Q9NZE8). It is a selective cancer dependency (DepMap: 71.3% of cell lines).
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 39S subunit protein. Sequence analysis identified three transcript variants. Pseudogenes corresponding to this gene are found on chromosomes 6p, 10q, and Xp.
Source: NCBI Gene 51318 — RefSeq curated summary.
At a glance
- GWAS associations: 3
- Clinical variants (ClinVar): 43 total — 1 pathogenic
- Cancer dependency (DepMap): dependent in 71.3% of screened cell lines
- MANE Select transcript:
NM_016622
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:14489 |
| Approved symbol | MRPL35 |
| Name | mitochondrial ribosomal protein L35 |
| Location | 2p11.2 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | bL35m |
| Ensembl gene | ENSG00000132313 |
| Ensembl biotype | protein_coding |
| OMIM | 611841 |
| Entrez | 51318 |
Gene structure
Transcript identifiers
Ensembl transcripts: 4 — 4 protein_coding
ENST00000254644, ENST00000337109, ENST00000409180, ENST00000605125
RefSeq mRNA: 3 — MANE Select: NM_016622
NM_001363782, NM_016622, NM_145644
CCDS: CCDS1987, CCDS1988, CCDS86858
Canonical transcript exons
ENST00000337109 — 4 exons
| Exon | Start | End |
|---|---|---|
| ENSE00000902566 | 86206106 | 86206295 |
| ENSE00000902567 | 86207183 | 86207327 |
| ENSE00001186033 | 86199457 | 86199533 |
| ENSE00001390621 | 86210480 | 86213790 |
Expression profiles
Bgee: expression breadth ubiquitous, 283 present calls, max score 95.97.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 37.8312 / max 443.1959, expressed in 1813 samples.
FANTOM5 promoters (1 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 21291 | 37.8312 | 1813 |
Top tissues by expression
293 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| rectum | UBERON:0001052 | 95.97 | gold quality |
| heart left ventricle | UBERON:0002084 | 94.42 | gold quality |
| mucosa of transverse colon | UBERON:0004991 | 94.40 | gold quality |
| left ventricle myocardium | UBERON:0006566 | 94.36 | gold quality |
| cardiac ventricle | UBERON:0002082 | 94.35 | gold quality |
| heart right ventricle | UBERON:0002080 | 93.73 | gold quality |
| apex of heart | UBERON:0002098 | 92.99 | gold quality |
| islet of Langerhans | UBERON:0000006 | 92.97 | gold quality |
| heart | UBERON:0000948 | 92.94 | gold quality |
| hindlimb stylopod muscle | UBERON:0004252 | 92.53 | gold quality |
| right atrium auricular region | UBERON:0006631 | 92.52 | gold quality |
| cardiac atrium | UBERON:0002081 | 92.29 | gold quality |
| muscle of leg | UBERON:0001383 | 91.95 | gold quality |
| adrenal tissue | UBERON:0018303 | 91.84 | gold quality |
| myocardium | UBERON:0002349 | 91.72 | gold quality |
| gastrocnemius | UBERON:0001388 | 91.68 | gold quality |
| biceps brachii | UBERON:0001507 | 91.47 | gold quality |
| transverse colon | UBERON:0001157 | 91.39 | gold quality |
| duodenum | UBERON:0002114 | 91.24 | gold quality |
| mucosa of sigmoid colon | UBERON:0004993 | 91.21 | gold quality |
| diaphragm | UBERON:0001103 | 91.18 | gold quality |
| colonic mucosa | UBERON:0000317 | 91.06 | gold quality |
| muscle organ | UBERON:0001630 | 90.93 | gold quality |
| primordial germ cell in gonad | CL:0000670 ∩ UBERON:0000991 | 90.65 | gold quality |
| right adrenal gland | UBERON:0001233 | 90.44 | gold quality |
| large intestine | UBERON:0000059 | 90.23 | gold quality |
| colon | UBERON:0001155 | 90.19 | gold quality |
| left adrenal gland | UBERON:0001234 | 90.09 | gold quality |
| right adrenal gland cortex | UBERON:0035827 | 90.08 | gold quality |
| intestine | UBERON:0000160 | 89.88 | gold quality |
Single-cell (SCXA)
Detected in 3 experiment(s), a significant marker in 2.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-GEOD-100618 | yes | 223.69 |
| E-MTAB-6386 | no | 94.51 |
| E-ANND-3 | no | 0.00 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
116 targeting MRPL35, 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-3163 | 100.00 | 77.23 | 8605 |
| HSA-MIR-4481 | 100.00 | 66.42 | 1669 |
| HSA-MIR-4282 | 99.99 | 75.36 | 6408 |
| HSA-MIR-548AW | 99.99 | 72.57 | 3559 |
| HSA-MIR-520G-5P | 99.99 | 66.76 | 658 |
| HSA-MIR-4745-5P | 99.98 | 65.95 | 1028 |
| HSA-MIR-507 | 99.97 | 70.11 | 1915 |
| HSA-MIR-557 | 99.96 | 70.01 | 1640 |
| HSA-MIR-1468-3P | 99.96 | 72.74 | 3797 |
| HSA-MIR-548AT-5P | 99.96 | 70.83 | 2666 |
| HSA-MIR-3658 | 99.96 | 73.87 | 4379 |
| HSA-MIR-767-5P | 99.95 | 70.85 | 993 |
| HSA-MIR-9983-3P | 99.94 | 71.48 | 3631 |
| HSA-MIR-144-3P | 99.94 | 73.98 | 2698 |
| HSA-MIR-335-3P | 99.93 | 73.36 | 4958 |
| HSA-MIR-450B-5P | 99.92 | 71.48 | 3175 |
| HSA-MIR-6508-5P | 99.92 | 70.67 | 2465 |
| HSA-MIR-1297 | 99.91 | 73.41 | 3162 |
| HSA-MIR-10523-5P | 99.91 | 69.22 | 2038 |
| HSA-MIR-627-3P | 99.90 | 71.42 | 3316 |
| HSA-MIR-95-5P | 99.89 | 72.17 | 3973 |
| HSA-MIR-129-5P | 99.88 | 70.26 | 3273 |
| HSA-MIR-5582-3P | 99.86 | 72.48 | 4221 |
| HSA-MIR-8067 | 99.86 | 69.59 | 2260 |
| HSA-MIR-629-3P | 99.85 | 67.99 | 1875 |
| HSA-MIR-5003-3P | 99.85 | 69.29 | 2517 |
| HSA-MIR-4799-5P | 99.82 | 70.60 | 2663 |
| HSA-MIR-548AJ-5P | 99.78 | 71.12 | 3085 |
| HSA-MIR-548F-5P | 99.78 | 71.02 | 3093 |
| HSA-MIR-548G-5P | 99.78 | 71.12 | 3085 |
Functional genomics
DepMap (CRISPR cell-line fitness): dependent in 71.3% of screened cell lines.
Literature-anchored findings (GeneRIF, showing 3)
- High MRPL35 expression Cooperate in Colorectal Cancer. (PMID:30862482)
- Knockdown of MRPL35 promotes cell apoptosis and inhibits cell proliferation in non-small-cell lung cancer. (PMID:38093266)
- MRPL35 Induces Proliferation, Invasion, and Glutamine Metabolism in NSCLC Cells by Upregulating SLC7A5 Expression. (PMID:38987867)
Cross-species orthologs
5 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | mrpl35 | ENSDARG00000070589 |
| mus_musculus | Mrpl35 | ENSMUSG00000052962 |
| rattus_norvegicus | Mrpl35 | ENSRNOG00000008546 |
| drosophila_melanogaster | mRpL35 | FBGN0038923 |
| caenorhabditis_elegans | WBGENE00010812 |
Protein
Protein identifiers
Large ribosomal subunit protein bL35m — Q9NZE8 (reviewed: Q9NZE8)
Alternative names: 39S ribosomal protein L35, mitochondrial
All UniProt accessions (3): Q9NZE8, D3YTC1, S4R348
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 bacterial ribosomal protein bL35 family.
Isoforms (2)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q9NZE8-1 | 1 | yes |
| Q9NZE8-2 | 2 |
RefSeq proteins (3): NP_001350711, NP_057706, NP_663619 (=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR019338 | Ribosomal_bL35m | Family |
| IPR021137 | Ribosomal_bL35-like | Family |
| IPR037229 | Ribosomal_bL35_sf | Homologous_superfamily |
Pfam: PF01632
UniProt features (23 total): helix 6, sequence variant 6, strand 4, turn 4, transit peptide 1, chain 1, splice variant 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 |
| 8QU1 | ELECTRON MICROSCOPY | 2.74 |
| 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 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q9NZE8-F1 | 76.58 | 0.54 |
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: 193 (showing top):
GNF2_CKS1B, GOBP_MITOCHONDRIAL_TRANSLATION, GNF2_RRM1, GOBP_TRANSLATION, WEI_MYCN_TARGETS_WITH_E_BOX, RUTELLA_RESPONSE_TO_CSF2RB_AND_IL4_UP, GNF2_SMC4L1, GOMF_STRUCTURAL_CONSTITUENT_OF_RIBOSOME, BYSTRYKH_HEMATOPOIESIS_STEM_CELL_AND_BRAIN_QTL_CIS, GNF2_RFC3, GOCC_MITOCHONDRIAL_ENVELOPE, AAAGGGA_MIR204_MIR211, YAO_TEMPORAL_RESPONSE_TO_PROGESTERONE_CLUSTER_13, GARY_CD5_TARGETS_DN, ZHOU_INFLAMMATORY_RESPONSE_LIVE_DN
GO Biological Process (2): translation (GO:0006412), mitochondrial translation (GO:0032543)
GO Molecular Function (2): structural constituent of ribosome (GO:0003735), protein binding (GO:0005515)
GO Cellular Component (6): mitochondrion (GO:0005739), mitochondrial inner membrane (GO:0005743), mitochondrial ribosome (GO:0005761), mitochondrial large ribosomal subunit (GO:0005762), 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 |
| binding | 1 |
| cytoplasm | 1 |
| intracellular membrane-bounded organelle | 1 |
| organelle inner membrane | 1 |
| mitochondrial membrane | 1 |
| organellar ribosome | 1 |
| mitochondrial matrix | 1 |
| organellar large ribosomal subunit | 1 |
| mitochondrial ribosome | 1 |
| mitochondrial protein-containing complex | 1 |
| intracellular membraneless organelle | 1 |
| protein-containing complex | 1 |
Protein interactions and networks
STRING
1430 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| MRPL35 | MRPS11 | P82912 | 524 |
| MRPL35 | MRPL39 | Q9NYK5 | 467 |
| MRPL35 | MTRF1 | O75570 | 467 |
| MRPL35 | SMPDL3B | Q92485 | 443 |
| MRPL35 | PPIF | P30405 | 441 |
| MRPL35 | MGAT4A | Q9UM21 | 438 |
| MRPL35 | HCCS | P53701 | 436 |
| MRPL35 | MTMR7 | Q9Y216 | 421 |
| MRPL35 | LIMD2 | Q9BT23 | 418 |
| MRPL35 | FAH | P16930 | 414 |
| MRPL35 | MRPS23 | Q9Y3D9 | 408 |
| MRPL35 | SERTAD4 | Q9NUC0 | 408 |
| MRPL35 | CCNL1 | Q9UK58 | 396 |
| MRPL35 | PTGR3 | Q8N4Q0 | 395 |
| MRPL35 | KRCC1 | Q9NPI7 | 394 |
IntAct
94 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| H2AX | PPM1G | psi-mi:“MI:0914”(association) | 0.730 |
| MRPS30 | GTPBP10 | psi-mi:“MI:0914”(association) | 0.640 |
| NSA2 | GNL2 | psi-mi:“MI:0914”(association) | 0.640 |
| MRPL50 | GTPBP10 | psi-mi:“MI:0914”(association) | 0.530 |
| MRPL42 | GATC | 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 |
| MRPL2 | GTPBP10 | psi-mi:“MI:0914”(association) | 0.530 |
| MRPL16 | MRPL2 | psi-mi:“MI:0914”(association) | 0.530 |
| ABT1 | ZNF316 | psi-mi:“MI:0914”(association) | 0.530 |
| MRPL27 | MRPL33 | psi-mi:“MI:0914”(association) | 0.530 |
| NDUFAB1 | MIEF1 | psi-mi:“MI:0915”(physical association) | 0.490 |
| Kif4 | UMPS | psi-mi:“MI:0914”(association) | 0.350 |
| RACGAP1 | STX18 | psi-mi:“MI:0914”(association) | 0.350 |
| MRPL50 | MRPL43 | psi-mi:“MI:0914”(association) | 0.350 |
| MRPL9 | MRPL43 | psi-mi:“MI:0914”(association) | 0.350 |
| MRPL1 | MRPL43 | psi-mi:“MI:0914”(association) | 0.350 |
| HSCB | RBP5 | psi-mi:“MI:0914”(association) | 0.350 |
| psi-mi:“MI:0914”(association) | 0.350 | ||
| MRPL35 | IPO5 | psi-mi:“MI:0914”(association) | 0.350 |
| LUC7L | CASC3 | psi-mi:“MI:0914”(association) | 0.350 |
| TFAM | MRPS14 | psi-mi:“MI:0914”(association) | 0.350 |
| SSBP1 | MRPS14 | psi-mi:“MI:0914”(association) | 0.350 |
| ATAD3A | TMEM223 | psi-mi:“MI:0914”(association) | 0.350 |
| rl36a_rl36l_human | IPO5 | psi-mi:“MI:0914”(association) | 0.350 |
| PIPSL | C1orf226 | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (144): MRPL35 (Affinity Capture-MS), MRPL35 (Affinity Capture-MS), MRPL35 (Affinity Capture-MS), MRPL35 (Affinity Capture-MS), MRPL35 (Reconstituted Complex), MRPL35 (Affinity Capture-MS), MRPL35 (Affinity Capture-MS), MRPL35 (Affinity Capture-MS), MRPL35 (Affinity Capture-MS), MRPL35 (Affinity Capture-MS), MRPL35 (Affinity Capture-MS), MRPL47 (Affinity Capture-MS), MRPS30 (Affinity Capture-MS), MRPL35 (Affinity Capture-MS), MRPL4 (Affinity Capture-MS)
ESM2 similar proteins: A0A0R0IHP4, A2Y5T7, A2YLX7, A3BKF2, F4I933, F4K6X0, O22795, O64654, P16180, P17092, P23326, P30956, P31164, P41348, P41349, P42732, P51412, P82130, P82162, P82163, P82191, P82245, P82248, P82413, Q0JG75, Q1K4P1, Q3SZA9, Q5KQI6, Q5R9N0, Q6K471, Q84JH7, Q8RXX5, Q8VY88, Q8VZ55, Q8W463, Q940U6, Q94A65, Q9ASV6, Q9CQL6, Q9FFU1
Diamond homologs: Q21454, Q3SZA9, Q5R9N0, Q61JI9, Q8MS27, Q9CQL6, Q9NZE8
SIGNOR signaling
1 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| MRPL35 | “form complex” | “39S mitochondrial large ribosomal subunit” | binding |
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 88 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 | 30 | 61.4× | 2e-46 |
| Mitochondrial translation | 26 | 59.6× | 9e-40 |
| Mitochondrial translation initiation | 27 | 57.1× | 1e-40 |
| Mitochondrial translation elongation | 27 | 57.1× | 1e-40 |
| Mitochondrial translation termination | 27 | 49.4× | 6e-39 |
| Translation | 27 | 27.9× | 1e-31 |
| Peptide chain elongation | 5 | 10.6× | 2e-03 |
| Viral mRNA Translation | 5 | 10.6× | 2e-03 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| mitochondrial translation | 28 | 60.8× | 1e-41 |
| translation | 20 | 25.7× | 4e-21 |
| cytoplasmic translation | 5 | 11.6× | 3e-03 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
43 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 1 |
| Likely pathogenic | 0 |
| Uncertain significance | 29 |
| Likely benign | 2 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (1)
| Variant ID | HGVS | Classification |
|---|---|---|
| 2426780 | NC_000002.11:g.(?85766411)(86564633_?)del | Pathogenic |
SpliceAI
458 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 2:86206100:TTACA:T | acceptor_loss | 1.0000 |
| 2:86206101:TACAG:T | acceptor_loss | 1.0000 |
| 2:86206103:CAGG:C | acceptor_loss | 1.0000 |
| 2:86206104:A:AG | acceptor_gain | 1.0000 |
| 2:86206104:A:G | acceptor_loss | 1.0000 |
| 2:86206105:G:GG | acceptor_gain | 1.0000 |
| 2:86207181:A:AG | acceptor_gain | 1.0000 |
| 2:86207181:AGAAT:A | acceptor_gain | 1.0000 |
| 2:86207182:G:GG | acceptor_gain | 1.0000 |
| 2:86207182:GA:G | acceptor_gain | 1.0000 |
| 2:86207182:GAAT:G | acceptor_gain | 1.0000 |
| 2:86207182:GAATG:G | acceptor_gain | 1.0000 |
| 2:86210468:A:AG | acceptor_gain | 1.0000 |
| 2:86210478:A:AG | acceptor_gain | 1.0000 |
| 2:86210479:G:GG | acceptor_gain | 1.0000 |
| 2:86210479:GGCT:G | acceptor_gain | 1.0000 |
| 2:86199515:GC:G | donor_gain | 0.9900 |
| 2:86199532:AGGTC:A | donor_loss | 0.9900 |
| 2:86199533:GGTC:G | donor_loss | 0.9900 |
| 2:86199534:GTC:G | donor_loss | 0.9900 |
| 2:86199535:T:G | donor_loss | 0.9900 |
| 2:86206104:AG:A | acceptor_gain | 0.9900 |
| 2:86206105:GG:G | acceptor_gain | 0.9900 |
| 2:86206105:GGA:G | acceptor_gain | 0.9900 |
| 2:86206193:G:GT | donor_gain | 0.9900 |
| 2:86206267:T:G | donor_gain | 0.9900 |
| 2:86207177:TTTTA:T | acceptor_loss | 0.9900 |
| 2:86207178:TTTA:T | acceptor_loss | 0.9900 |
| 2:86207179:TTA:T | acceptor_loss | 0.9900 |
| 2:86207181:A:C | acceptor_loss | 0.9900 |
AlphaMissense
1202 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 2:86207289:T:C | F114L | 0.992 |
| 2:86207291:T:A | F114L | 0.992 |
| 2:86207291:T:G | F114L | 0.992 |
| 2:86207313:T:A | W122R | 0.987 |
| 2:86207313:T:C | W122R | 0.987 |
| 2:86210551:C:G | C150W | 0.979 |
| 2:86210574:T:C | L158S | 0.978 |
| 2:86207315:G:C | W122C | 0.977 |
| 2:86207315:G:T | W122C | 0.977 |
| 2:86207290:T:C | F114S | 0.976 |
| 2:86210594:T:C | F165L | 0.975 |
| 2:86210596:C:A | F165L | 0.975 |
| 2:86210596:C:G | F165L | 0.975 |
| 2:86210584:G:A | M161I | 0.974 |
| 2:86210584:G:C | M161I | 0.974 |
| 2:86210584:G:T | M161I | 0.974 |
| 2:86210597:T:A | W166R | 0.974 |
| 2:86210597:T:C | W166R | 0.974 |
| 2:86210550:G:A | C150Y | 0.972 |
| 2:86210564:A:C | S155R | 0.965 |
| 2:86210566:T:A | S155R | 0.965 |
| 2:86210566:T:G | S155R | 0.965 |
| 2:86207287:G:T | R113M | 0.963 |
| 2:86207288:G:C | R113S | 0.963 |
| 2:86207288:G:T | R113S | 0.963 |
| 2:86210571:T:C | L157P | 0.961 |
| 2:86207321:G:C | R124S | 0.960 |
| 2:86207321:G:T | R124S | 0.960 |
| 2:86210501:T:A | W134R | 0.960 |
| 2:86210501:T:C | W134R | 0.960 |
dbSNP variants (sampled 300 via entrez): RS1000006173 (2:86212059 T>C), RS1000034783 (2:86204088 G>A), RS1000370968 (2:86213580 C>T), RS1000631067 (2:86198223 C>A), RS1000639324 (2:86199771 C>G), RS1000710675 (2:86208384 G>GT), RS1000743118 (2:86208168 A>G), RS1000923042 (2:86201365 A>G), RS1001028818 (2:86208867 A>G), RS1001543472 (2:86209224 T>C), RS1001583271 (2:86209852 T>C,G), RS1001586422 (2:86203683 A>T), RS1001702257 (2:86204026 C>T), RS1001927887 (2:86210079 T>G), RS1002132325 (2:86197825 C>A,G,T)
Disease associations
OMIM: gene MIM:611841 | disease phenotypes: MIM:610250
GenCC curated gene-disease
Mondo (1): hereditary spastic paraplegia 31 (MONDO:0012453)
Orphanet (1): Autosomal dominant spastic paraplegia type 31 (Orphanet:101011)
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
3 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST003542_125 | Night sleep phenotypes | 5.000000e-06 |
| GCST004730_1 | Facial emotion recognition (sad faces) | 2.000000e-06 |
| GCST007267_289 | Systolic blood pressure | 7.000000e-11 |
EFO canonical traits (2, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0008329 | facial emotion recognition measurement |
| EFO:0006335 | systolic blood pressure |
MeSH disease descriptors (1)
| Descriptor | Name | Tree numbers |
|---|---|---|
| C565210 | Spastic Paraplegia 31, Autosomal Dominant (supp.) |
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 |
|---|---|---|
| Acetaminophen | decreases expression | 2 |
| Cyclosporine | decreases expression | 2 |
| dicrotophos | decreases expression | 1 |
| triphenyl phosphate | affects expression | 1 |
| bisphenol A | decreases expression | 1 |
| arsenite | affects binding, increases reaction | 1 |
| sodium arsenite | increases expression, increases abundance | 1 |
| cobaltous chloride | decreases expression | 1 |
| nickel sulfate | decreases expression | 1 |
| isobutyl alcohol | affects cotreatment, decreases expression, increases abundance | 1 |
| beta-methylcholine | affects expression | 1 |
| di-n-butylphosphoric acid | affects expression | 1 |
| K 7174 | decreases expression | 1 |
| ICG 001 | increases expression | 1 |
| Sunitinib | decreases expression | 1 |
| Arsenic | increases expression, increases abundance | 1 |
| Atrazine | decreases expression | 1 |
| Dichlorodiphenyl Dichloroethylene | increases expression | 1 |
| Diethylhexyl Phthalate | increases expression | 1 |
| Dinitrochlorobenzene | decreases expression | 1 |
| Ethyl Methanesulfonate | decreases expression | 1 |
| Eugenol | decreases expression | 1 |
| Formaldehyde | decreases expression | 1 |
| Gasoline | affects cotreatment, decreases expression, increases abundance | 1 |
| Methyl Methanesulfonate | decreases expression | 1 |
| Oxazolone | decreases expression | 1 |
| Polycyclic Aromatic Hydrocarbons | affects cotreatment, decreases expression, increases abundance | 1 |
| Thiram | decreases expression | 1 |
| Valproic Acid | affects expression | 1 |
| Vitamin E | decreases expression | 1 |
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): hereditary spastic paraplegia 31