MRPL14
gene geneOn this page
Also known as RPML32MRP-L32uL14m
Summary
MRPL14 (mitochondrial ribosomal protein L14, HGNC:14279) is a protein-coding gene on chromosome 6p21.1, encoding Large ribosomal subunit protein uL14m (Q6P1L8). Forms part of 2 intersubunit bridges in the assembled ribosome. It is a selective cancer dependency (DepMap: 45.5% of cell lines).
This nuclear gene encodes a protein component of the 39S subunit of the mitochondrial ribosome. A pseudogene of this gene is found on chromosome 17.
Source: NCBI Gene 64928 — RefSeq curated summary.
At a glance
- GWAS associations: 6
- Clinical variants (ClinVar): 45 total
- Cancer dependency (DepMap): dependent in 45.5% of screened cell lines
- MANE Select transcript:
NM_032111
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:14279 |
| Approved symbol | MRPL14 |
| Name | mitochondrial ribosomal protein L14 |
| Location | 6p21.1 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | RPML32, MRP-L32, uL14m |
| Ensembl gene | ENSG00000180992 |
| Ensembl biotype | protein_coding |
| OMIM | 611827 |
| Entrez | 64928 |
Gene structure
Transcript identifiers
Ensembl transcripts: 24 — 24 protein_coding
ENST00000372014, ENST00000872326, ENST00000872327, ENST00000872328, ENST00000872329, ENST00000872330, ENST00000872331, ENST00000872332, ENST00000872333, ENST00000872334, ENST00000872335, ENST00000872336, ENST00000872337, ENST00000930436, ENST00000930437, ENST00000930438, ENST00000930439, ENST00000930440, ENST00000930441, ENST00000930442, ENST00000930443, ENST00000930444, ENST00000967823, ENST00000967824
RefSeq mRNA: 6 — MANE Select: NM_032111
NM_001318767, NM_001318768, NM_001318769, NM_001318770, NM_001318771, NM_032111
CCDS: CCDS34460
Canonical transcript exons
ENST00000372014 — 3 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001456702 | 44113451 | 44114209 |
| ENSE00001456711 | 44116541 | 44116629 |
| ENSE00001456714 | 44127344 | 44127452 |
Expression profiles
Bgee: expression breadth ubiquitous, 252 present calls, max score 97.99.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 28.9830 / max 120.1378, expressed in 1817 samples.
FANTOM5 promoters (3 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 73738 | 21.6184 | 1814 |
| 73739 | 5.5764 | 1668 |
| 73737 | 1.7883 | 675 |
Top tissues by expression
255 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| tibialis anterior | UBERON:0001385 | 97.99 | gold quality |
| quadriceps femoris | UBERON:0001377 | 97.79 | gold quality |
| biceps brachii | UBERON:0001507 | 97.78 | gold quality |
| vastus lateralis | UBERON:0001379 | 97.70 | gold quality |
| deltoid | UBERON:0001476 | 97.68 | gold quality |
| upper arm skin | UBERON:0004263 | 97.62 | gold quality |
| gastrocnemius | UBERON:0001388 | 97.61 | gold quality |
| skeletal muscle tissue of rectus abdominis | UBERON:0004511 | 97.45 | gold quality |
| skeletal muscle tissue of biceps brachii | UBERON:0004502 | 97.23 | gold quality |
| skeletal muscle tissue | UBERON:0001134 | 97.01 | gold quality |
| muscle of leg | UBERON:0001383 | 96.96 | gold quality |
| gingival epithelium | UBERON:0001949 | 96.84 | gold quality |
| hindlimb stylopod muscle | UBERON:0004252 | 96.49 | gold quality |
| adult organism | UBERON:0007023 | 96.38 | gold quality |
| mucosa of transverse colon | UBERON:0004991 | 96.30 | gold quality |
| body of tongue | UBERON:0011876 | 96.03 | gold quality |
| cartilage tissue | UBERON:0002418 | 95.93 | gold quality |
| gingiva | UBERON:0001828 | 95.83 | gold quality |
| muscle tissue | UBERON:0002385 | 95.72 | gold quality |
| nasal cavity epithelium | UBERON:0005384 | 95.63 | gold quality |
| left ventricle myocardium | UBERON:0006566 | 95.27 | gold quality |
| mammalian vulva | UBERON:0000997 | 95.20 | gold quality |
| upper lobe of lung | UBERON:0008948 | 94.82 | gold quality |
| upper lobe of left lung | UBERON:0008952 | 94.81 | gold quality |
| tongue | UBERON:0001723 | 94.80 | gold quality |
| islet of Langerhans | UBERON:0000006 | 94.70 | gold quality |
| lower lobe of lung | UBERON:0008949 | 94.33 | gold quality |
| apex of heart | UBERON:0002098 | 94.24 | gold quality |
| palpebral conjunctiva | UBERON:0001812 | 94.21 | gold quality |
| right lobe of liver | UBERON:0001114 | 94.15 | gold quality |
Single-cell (SCXA)
Detected in 7 experiment(s), a significant marker in 6.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-MTAB-8410 | yes | 660.71 |
| E-HCAD-1 | yes | 92.69 |
| E-MTAB-7316 | yes | 19.72 |
| E-MTAB-8271 | yes | 7.61 |
| E-GEOD-130148 | yes | 7.01 |
| E-MTAB-10137 | no | 318.45 |
| E-ANND-3 | no | 0.00 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
16 targeting MRPL14, 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-4768-5P | 100.00 | 69.49 | 2861 |
| HSA-MIR-6833-3P | 100.00 | 70.63 | 3197 |
| HSA-MIR-4789-3P | 99.99 | 70.75 | 2484 |
| HSA-MIR-4302 | 99.89 | 67.94 | 1187 |
| HSA-MIR-9902 | 99.89 | 69.15 | 2250 |
| HSA-MIR-4729 | 99.69 | 72.18 | 4233 |
| HSA-MIR-875-3P | 99.63 | 69.47 | 2548 |
| HSA-MIR-150-3P | 99.43 | 70.51 | 920 |
| HSA-MIR-12125 | 98.59 | 67.54 | 1044 |
| HSA-MIR-3130-5P | 98.14 | 66.00 | 711 |
| HSA-MIR-4483 | 98.09 | 64.12 | 1642 |
| HSA-MIR-4482-5P | 97.53 | 65.68 | 598 |
| HSA-MIR-7106-3P | 97.33 | 65.33 | 644 |
| HSA-MIR-10398-5P | 97.12 | 64.94 | 1051 |
| HSA-MIR-5579-5P | 96.32 | 68.54 | 730 |
Functional genomics
DepMap (CRISPR cell-line fitness): dependent in 45.5% of screened cell lines.
Literature-anchored findings (GeneRIF, showing 1)
- C7orf30 promotes incorporation of MRPL14 into the mitochondrial large ribosomal subunit. (PMID:23171548)
Cross-species orthologs
4 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | mrpl14 | ENSDARG00000068886 |
| mus_musculus | Mrpl14 | ENSMUSG00000023939 |
| rattus_norvegicus | Mrpl14 | ENSRNOG00000019734 |
| drosophila_melanogaster | mRpL14 | FBGN0040389 |
Paralogs (1): C1orf53 (ENSG00000203724)
Protein
Protein identifiers
Large ribosomal subunit protein uL14m — Q6P1L8 (reviewed: Q6P1L8)
Alternative names: 39S ribosomal protein L14, mitochondrial, 39S ribosomal protein L32, mitochondrial
All UniProt accessions (1): Q6P1L8
UniProt curated annotations — full annotation on UniProt →
Function. Forms part of 2 intersubunit bridges in the assembled ribosome. Upon binding to MALSU1 intersubunit bridge formation is blocked, preventing ribosome formation and repressing translation.
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. Interacts with MALSU1.
Subcellular location. Mitochondrion.
Similarity. Belongs to the universal ribosomal protein uL14 family.
RefSeq proteins (6): NP_001305696, NP_001305697, NP_001305698, NP_001305699, NP_001305700, NP_115487* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR000218 | Ribosomal_uL14 | Family |
| IPR036853 | Ribosomal_uL14_sf | Homologous_superfamily |
Pfam: PF00238
UniProt features (15 total): strand 10, helix 3, transit peptide 1, chain 1
Structure
Experimental structures (PDB)
86 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-Q6P1L8-F1 | 85.38 | 0.76 |
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: 104 (showing top):
AREB6_03, GOBP_MITOCHONDRIAL_TRANSLATION, TGACCTY_ERR1_Q2, CAGCTG_AP4_Q5, GOBP_TRANSLATION, WEI_MYCN_TARGETS_WITH_E_BOX, GOMF_STRUCTURAL_CONSTITUENT_OF_RIBOSOME, HEN1_01, GOCC_MITOCHONDRIAL_ENVELOPE, GOCC_LARGE_RIBOSOMAL_SUBUNIT, GOCC_RIBOSOME, GOCC_ORGANELLAR_RIBOSOME, GOCC_MITOCHONDRIAL_MATRIX, GOCC_ORGANELLE_INNER_MEMBRANE, YGCGYRCGC_UNKNOWN
GO Biological Process (2): mitochondrial translation (GO:0032543), translation (GO:0006412)
GO Molecular Function (2): RNA binding (GO:0003723), structural constituent of ribosome (GO:0003735)
GO Cellular Component (5): mitochondrion (GO:0005739), mitochondrial inner membrane (GO:0005743), 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 |
|---|---|
| mitochondrion | 1 |
| translation | 1 |
| mitochondrial gene expression | 1 |
| peptidyltransferase activity | 1 |
| translational initiation | 1 |
| translational elongation | 1 |
| translational termination | 1 |
| macromolecule biosynthetic process | 1 |
| protein metabolic process | 1 |
| protein biosynthetic process | 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 |
| mitochondrial ribosome | 1 |
| mitochondrial protein-containing complex | 1 |
| intracellular membraneless organelle | 1 |
| protein-containing complex | 1 |
Protein interactions and networks
STRING
1186 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| MRPL14 | MALSU1 | Q96EH3 | 621 |
| MRPL14 | MRPL11 | Q9Y3B7 | 522 |
| MRPL14 | C2orf15 | Q8WU43 | 480 |
| MRPL14 | DAP3 | P51398 | 467 |
| MRPL14 | ZNF239 | Q16600 | 447 |
| MRPL14 | MRPL44 | Q9H9J2 | 434 |
| MRPL14 | MRPS18B | Q9Y676 | 418 |
| MRPL14 | MRPS27 | Q92552 | 418 |
| MRPL14 | LINC03040 | Q8N319 | 398 |
| MRPL14 | TMEM217 | Q8N7C4 | 391 |
| MRPL14 | MTG1 | Q9BT17 | 390 |
| MRPL14 | TMEM217B | A0A494BZU4 | 383 |
| MRPL14 | MTERF4 | Q7Z6M4 | 380 |
| MRPL14 | MRPS22 | P82650 | 373 |
| MRPL14 | MRPL36 | Q9P0J6 | 371 |
IntAct
70 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| CFTR | ESYT2 | psi-mi:“MI:2364”(proximity) | 0.710 |
| MALSU1 | NDUFAB1 | psi-mi:“MI:0914”(association) | 0.710 |
| MRPS30 | GTPBP10 | psi-mi:“MI:0914”(association) | 0.640 |
| NP | KPNA6 | psi-mi:“MI:0914”(association) | 0.550 |
| MRPL50 | GTPBP10 | psi-mi:“MI:0914”(association) | 0.530 |
| MRPL10 | ZZEF1 | psi-mi:“MI:0914”(association) | 0.530 |
| MRPL41 | MRPL3 | 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 |
| COX15 | SLC25A3 | psi-mi:“MI:0914”(association) | 0.530 |
| NDUFAB1 | MIEF1 | psi-mi:“MI:0915”(physical association) | 0.490 |
| SDC1 | ILVBL | psi-mi:“MI:0915”(physical association) | 0.400 |
| Brwd3 | WDR91 | psi-mi:“MI:0914”(association) | 0.350 |
| ETS2 | ANKS6 | psi-mi:“MI:0914”(association) | 0.350 |
| WRAP53 | STK24 | 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 |
| GOLT1B | psi-mi:“MI:0914”(association) | 0.350 | |
| MRPL1 | MRPL43 | psi-mi:“MI:0914”(association) | 0.350 |
| NP | HNRNPDL | psi-mi:“MI:0914”(association) | 0.350 |
| NP | KPNA6 | psi-mi:“MI:0914”(association) | 0.350 |
| NP | TRIM66 | psi-mi:“MI:0914”(association) | 0.350 |
| PDHA1 | psi-mi:“MI:0914”(association) | 0.350 | |
| CUL3 | PXDNL | psi-mi:“MI:0914”(association) | 0.350 |
| LRRK2 | psi-mi:“MI:0914”(association) | 0.350 | |
| MRPL39 | PTCD1 | psi-mi:“MI:0914”(association) | 0.350 |
| MRPL47 | MRPL33 | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (163): MRPL14 (Affinity Capture-MS), MRPL14 (Affinity Capture-MS), MRPL14 (Affinity Capture-MS), MRPL14 (Affinity Capture-MS), MRPL14 (Affinity Capture-MS), MRPL14 (Affinity Capture-MS), MRPL14 (Affinity Capture-MS), MRPL14 (Affinity Capture-MS), MRPL14 (Co-fractionation), MRPL14 (Co-fractionation), MRPL14 (Affinity Capture-MS), MRPL14 (Affinity Capture-MS), MRPL14 (Affinity Capture-MS), MRPL14 (Affinity Capture-MS), MRPL14 (Affinity Capture-MS)
ESM2 similar proteins: A0A1D8PFG4, A1XQU5, G1TXF6, O14388, O74538, P02412, P0C2H6, P0C2H7, P0CX29, P0CX30, P0CY39, P0CY40, P36105, P38754, P46222, P55844, P61353, P61354, P61355, P61356, P61357, P61358, P61359, P62251, P69090, P69091, P91914, Q02753, Q02984, Q12672, Q1JQ99, Q43291, Q4R8Z4, Q6FLA8, Q6P1L8, Q6YIA3, Q7M0E7, Q7ZTZ2, Q7ZV82, Q8LJU5
Diamond homologs: A0L5Y3, A0PXV6, A1BJ24, A2C4Y9, A3PGM1, A4SCR9, A4WVJ8, A4XBN6, A5CCK2, A5GVX0, A5I7J6, A6LPS1, A6X0C8, A7FZ59, A7GJ64, A8IAQ6, A8LM67, A8M519, A9B421, A9BCN7, A9IW13, A9M5P0, B0B892, B0BCF7, B0SA37, B0SSG7, B1IGE4, B1KSL5, B1WQS0, B1X4Z8, B1XJS9, B2S2E6, B2S669, B3CN36, B3EGY0, B3EP51, B3EUL3, B3QR72, B3QYD4, B4S5B8
SIGNOR signaling
1 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| MRPL14 | “form complex” | “39S mitochondrial large ribosomal subunit” | binding |
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 83 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 | 20 | 39.0× | 8e-25 |
| Mitochondrial translation initiation | 17 | 34.2× | 4e-20 |
| Mitochondrial translation elongation | 17 | 34.2× | 4e-20 |
| Mitochondrial translation | 15 | 32.8× | 2e-17 |
| Mitochondrial translation termination | 17 | 29.6× | 4e-19 |
| Translation | 15 | 14.8× | 3e-12 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| mitochondrial translation | 18 | 42.3× | 3e-22 |
| negative regulation of translation | 5 | 13.2× | 4e-03 |
| protein autophosphorylation | 6 | 11.8× | 1e-03 |
| translation | 8 | 11.1× | 1e-04 |
| MAPK cascade | 5 | 10.3× | 9e-03 |
| protein phosphorylation | 8 | 7.3× | 1e-03 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
45 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 32 |
| Likely benign | 1 |
| Benign | 2 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
634 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 6:44114205:TGGTG:T | acceptor_gain | 1.0000 |
| 6:44114207:GTG:G | acceptor_gain | 1.0000 |
| 6:44114208:TG:T | acceptor_gain | 1.0000 |
| 6:44114206:GGTG:G | acceptor_gain | 0.9900 |
| 6:44114208:TGC:T | acceptor_loss | 0.9900 |
| 6:44114209:GCT:G | acceptor_loss | 0.9900 |
| 6:44114210:C:CC | acceptor_gain | 0.9900 |
| 6:44114210:CTG:C | acceptor_loss | 0.9900 |
| 6:44114211:T:G | acceptor_loss | 0.9900 |
| 6:44114213:G:GC | acceptor_gain | 0.9900 |
| 6:44116536:GTTA:G | donor_loss | 0.9900 |
| 6:44116537:TTAC:T | donor_loss | 0.9900 |
| 6:44116538:TA:T | donor_loss | 0.9900 |
| 6:44116539:ACC:A | donor_loss | 0.9900 |
| 6:44116540:C:CA | donor_loss | 0.9900 |
| 6:44116626:GATCC:G | acceptor_loss | 0.9900 |
| 6:44116628:TC:T | acceptor_gain | 0.9900 |
| 6:44116629:CC:C | acceptor_gain | 0.9900 |
| 6:44116629:CCTG:C | acceptor_loss | 0.9900 |
| 6:44116630:C:CG | acceptor_loss | 0.9900 |
| 6:44116631:T:A | acceptor_loss | 0.9900 |
| 6:44127068:AGCAG:A | donor_loss | 0.9900 |
| 6:44127069:GCAGG:G | donor_loss | 0.9900 |
| 6:44127070:CAG:C | donor_loss | 0.9900 |
| 6:44127071:AGG:A | donor_loss | 0.9900 |
| 6:44127072:GGTG:G | donor_loss | 0.9900 |
| 6:44127073:GTGA:G | donor_loss | 0.9900 |
| 6:44127074:T:G | donor_loss | 0.9900 |
| 6:44114213:G:C | acceptor_gain | 0.9800 |
| 6:44116630:C:CC | acceptor_gain | 0.9800 |
AlphaMissense
949 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 6:44113964:A:T | V106D | 0.984 |
| 6:44113981:G:C | F100L | 0.984 |
| 6:44113981:G:T | F100L | 0.984 |
| 6:44113983:A:G | F100L | 0.984 |
| 6:44114063:A:T | I73K | 0.979 |
| 6:44114063:A:C | I73R | 0.969 |
| 6:44113928:C:G | R118P | 0.967 |
| 6:44113977:A:G | S102P | 0.967 |
| 6:44114024:A:T | I86N | 0.967 |
| 6:44114027:A:G | L85P | 0.966 |
| 6:44114149:A:C | S44R | 0.966 |
| 6:44114149:A:T | S44R | 0.966 |
| 6:44114151:T:G | S44R | 0.966 |
| 6:44113859:G:T | A141D | 0.965 |
| 6:44114112:A:G | C57R | 0.965 |
| 6:44113972:G:C | N103K | 0.964 |
| 6:44113972:G:T | N103K | 0.964 |
| 6:44113967:A:T | V105E | 0.962 |
| 6:44114110:G:C | C57W | 0.962 |
| 6:44114063:A:G | I73T | 0.961 |
| 6:44113961:A:T | L107H | 0.957 |
| 6:44114072:C:A | G70V | 0.957 |
| 6:44114021:A:T | V87E | 0.956 |
| 6:44114157:C:G | D42H | 0.954 |
| 6:44113873:C:A | K136N | 0.953 |
| 6:44113873:C:G | K136N | 0.953 |
| 6:44113913:A:T | I123N | 0.953 |
| 6:44113925:A:G | I119T | 0.953 |
| 6:44113935:C:A | G116W | 0.953 |
| 6:44114030:G:T | A84E | 0.953 |
dbSNP variants (sampled 300 via entrez): RS1000098100 (6:44115374 T>C), RS1000277610 (6:44121774 T>C), RS1000339022 (6:44128132 T>C), RS1000770792 (6:44126696 A>T), RS1001018520 (6:44120523 T>C), RS1001795351 (6:44117846 T>G), RS1002114455 (6:44114504 C>T), RS1002162612 (6:44128296 G>T), RS1002448631 (6:44125093 T>C), RS1002835070 (6:44114089 A>C,G), RS1002910005 (6:44114264 A>C), RS1003133131 (6:44128445 C>G,T), RS1003244079 (6:44113197 G>T), RS1003560906 (6:44124888 C>T), RS1003591869 (6:44125232 T>C)
Disease associations
OMIM: gene MIM:611827 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
6 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST001155_1 | Vascular endothelial growth factor levels | 0.000000e+00 |
| GCST001850_17 | Major depressive disorder | 9.000000e-06 |
| GCST002942_11 | Percentage gas trapping | 9.000000e-07 |
| GCST009144_30 | Disease progression in age-related macular degeneration (adjusted for baseline) | 9.000000e-07 |
| GCST010867_63 | Coronary artery disease | 4.000000e-08 |
| GCST012048_5 | Triglyceride levels | 9.000000e-07 |
EFO canonical traits (3, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0007628 | gas trapping measurement |
| EFO:0008336 | disease progression measurement |
| EFO:0004530 | triglyceride measurement |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
34 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| sodium arsenite | affects expression, decreases expression | 2 |
| ginger extract | decreases expression, increases abundance | 1 |
| bisphenol A | decreases methylation | 1 |
| arsenite | affects binding, increases reaction | 1 |
| manganese chloride | increases expression, increases abundance | 1 |
| ochratoxin A | decreases expression | 1 |
| gossypol acetic acid | decreases expression | 1 |
| pinosylvin | decreases expression | 1 |
| di-n-butylphosphoric acid | affects expression | 1 |
| CGP 52608 | affects binding, increases reaction | 1 |
| K 7174 | decreases expression | 1 |
| 4-chloro-N-((4-(1,1-dimethylethyl)phenyl)methyl)-3-ethyl-1-methyl-1H-pyrazole-5-carboxamide | increases expression | 1 |
| pyrimidifen | increases expression | 1 |
| ICG 001 | decreases expression | 1 |
| 2-(1H-indazol-4-yl)-6-(4-methanesulfonylpiperazin-1-ylmethyl)-4-morpholin-4-ylthieno(3,2-d)pyrimidine | decreases expression, increases response to substance | 1 |
| Acetaminophen | affects cotreatment, decreases expression | 1 |
| Air Pollutants | decreases expression, increases abundance | 1 |
| Ethyl Methanesulfonate | decreases expression | 1 |
| Hydrogen Peroxide | affects expression | 1 |
| Lipopolysaccharides | affects cotreatment, decreases expression | 1 |
| Manganese | increases abundance, increases expression | 1 |
| Methyl Methanesulfonate | decreases expression | 1 |
| Oils, Volatile | decreases expression, increases abundance | 1 |
| Ribonucleotides | affects binding | 1 |
| Rotenone | increases expression | 1 |
| Smoke | decreases expression | 1 |
| Dronabinol | decreases expression | 1 |
| Thiram | decreases expression | 1 |
| Tobacco Smoke Pollution | increases expression | 1 |
| Valproic Acid | decreases methylation | 1 |
Clinical trials (associated diseases)
0 trials via MONDO — disease-level, not drug-specific.
Related Atlas pages
No linked Atlas pages yet — the cross-entity mesh grows as the corpus expands.