MTIF2
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Also known as IF-2mt
Summary
MTIF2 (mitochondrial translational initiation factor 2, HGNC:7441) is a protein-coding gene on chromosome 2p16.1, encoding Translation initiation factor IF-2, mitochondrial (P46199). One of the essential components for the initiation of protein synthesis.
During the initiation of protein biosynthesis, initiation factor-2 (IF-2) promotes the binding of the initiator tRNA to the small subunit of the ribosome in a GTP-dependent manner. Prokaryotic IF-2 is a single polypeptide, while eukaryotic cytoplasmic IF-2 (eIF-2) is a trimeric protein. Bovine liver mitochondria contain IF-2(mt), an 85-kD monomeric protein that is equivalent to prokaryotic IF-2. The predicted 727-amino acid human protein contains a 29-amino acid presequence. Human IF-2(mt) shares 32 to 38% amino acid sequence identity with yeast IF-2(mt) and several prokaryotic IF-2s, with the greatest degree of conservation in the G domains of the proteins.
Source: NCBI Gene 4528 — RefSeq curated summary.
At a glance
- GWAS associations: 1
- Clinical variants (ClinVar): 129 total — 2 pathogenic
- MANE Select transcript:
NM_002453
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:7441 |
| Approved symbol | MTIF2 |
| Name | mitochondrial translational initiation factor 2 |
| Location | 2p16.1 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | IF-2mt |
| Ensembl gene | ENSG00000085760 |
| Ensembl biotype | protein_coding |
| OMIM | 603766 |
| Entrez | 4528 |
Gene structure
Transcript identifiers
Ensembl transcripts: 52 — 50 protein_coding, 2 protein_coding_CDS_not_defined
ENST00000263629, ENST00000366137, ENST00000394600, ENST00000403721, ENST00000404297, ENST00000412530, ENST00000417363, ENST00000417741, ENST00000418823, ENST00000420637, ENST00000441307, ENST00000446660, ENST00000853164, ENST00000853165, ENST00000853166, ENST00000853167, ENST00000853168, ENST00000853169, ENST00000853170, ENST00000853171, ENST00000853172, ENST00000853173, ENST00000853174, ENST00000853175, ENST00000853176, ENST00000853177, ENST00000853178, ENST00000918018, ENST00000918019, ENST00000918020, ENST00000918021, ENST00000918022, ENST00000918023, ENST00000918024, ENST00000918025, ENST00000918026, ENST00000918027, ENST00000918028, ENST00000918029, ENST00000918030, ENST00000918031, ENST00000918032, ENST00000918033, ENST00000956665, ENST00000956666, ENST00000956667, ENST00000956668, ENST00000956669, ENST00000956670, ENST00000956671, ENST00000956672, ENST00000956673
RefSeq mRNA: 7 — MANE Select: NM_002453
NM_001005369, NM_001321001, NM_001321002, NM_001321003, NM_001321004, NM_001321005, NM_002453
CCDS: CCDS1853
Canonical transcript exons
ENST00000263629 — 16 exons
| Exon | Start | End |
|---|---|---|
| ENSE00000754164 | 55254041 | 55254201 |
| ENSE00000932678 | 55237288 | 55237428 |
| ENSE00000932680 | 55242940 | 55243080 |
| ENSE00000932681 | 55243416 | 55243668 |
| ENSE00000932682 | 55244029 | 55244233 |
| ENSE00000932683 | 55249395 | 55249534 |
| ENSE00000962823 | 55246337 | 55246461 |
| ENSE00001035807 | 55252477 | 55252653 |
| ENSE00001518974 | 55267569 | 55267635 |
| ENSE00001518977 | 55268578 | 55268739 |
| ENSE00001518978 | 55269169 | 55269231 |
| ENSE00001550401 | 55236595 | 55236820 |
| ENSE00003519351 | 55263640 | 55263865 |
| ENSE00003582464 | 55262316 | 55262427 |
| ENSE00003663029 | 55254654 | 55254825 |
| ENSE00003784428 | 55240011 | 55240175 |
Expression profiles
Bgee: expression breadth ubiquitous, 294 present calls, max score 95.88.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 22.1673 / max 315.7795, expressed in 1809 samples.
FANTOM5 promoters (4 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 28451 | 21.1346 | 1807 |
| 28450 | 0.5185 | 281 |
| 28452 | 0.3245 | 120 |
| 28453 | 0.1897 | 61 |
Top tissues by expression
295 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| esophagus squamous epithelium | UBERON:0006920 | 95.88 | gold quality |
| squamous epithelium | UBERON:0006914 | 93.77 | gold quality |
| biceps brachii | UBERON:0001507 | 93.62 | gold quality |
| parietal pleura | UBERON:0002400 | 93.52 | gold quality |
| visceral pleura | UBERON:0002401 | 93.46 | gold quality |
| germinal epithelium of ovary | UBERON:0001304 | 93.45 | gold quality |
| colonic epithelium | UBERON:0000397 | 93.38 | gold quality |
| epithelium of esophagus | UBERON:0001976 | 93.36 | gold quality |
| skeletal muscle tissue of biceps brachii | UBERON:0004502 | 93.24 | gold quality |
| tibia | UBERON:0000979 | 93.22 | gold quality |
| heart right ventricle | UBERON:0002080 | 92.96 | gold quality |
| pleura | UBERON:0000977 | 92.93 | gold quality |
| cervix squamous epithelium | UBERON:0006922 | 92.89 | gold quality |
| rectum | UBERON:0001052 | 92.80 | gold quality |
| jejunum | UBERON:0002115 | 92.56 | gold quality |
| body of tongue | UBERON:0011876 | 92.56 | gold quality |
| vastus lateralis | UBERON:0001379 | 92.46 | gold quality |
| jejunal mucosa | UBERON:0000399 | 92.34 | gold quality |
| tendon | UBERON:0000043 | 92.10 | gold quality |
| pancreatic ductal cell | CL:0002079 | 91.97 | gold quality |
| superior surface of tongue | UBERON:0007371 | 91.86 | gold quality |
| tongue | UBERON:0001723 | 91.81 | gold quality |
| muscle of leg | UBERON:0001383 | 91.76 | gold quality |
| muscle organ | UBERON:0001630 | 91.76 | gold quality |
| gastrocnemius | UBERON:0001388 | 91.72 | gold quality |
| quadriceps femoris | UBERON:0001377 | 91.69 | gold quality |
| calcaneal tendon | UBERON:0003701 | 91.61 | gold quality |
| duodenum | UBERON:0002114 | 91.60 | gold quality |
| skeletal muscle tissue | UBERON:0001134 | 91.56 | gold quality |
| tendon of biceps brachii | UBERON:0008188 | 91.52 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 5.61 |
Regulation
Is transcription factor: no
Upstream regulators (CollecTRI, top): NFE2L2
Literature-anchored findings (GeneRIF, showing 2)
- This study identified a novel GWS association (1.17 x 10(-10)) mapped to chromosome 2 at rs1437396, between MTIF2 and CCDC88A, across all of the EA and AA cohorts. (PMID:24166409)
- MTIF2 impairs 5 fluorouracil-mediated immunogenic cell death in hepatocellular carcinoma in vivo: Molecular mechanisms and therapeutic significance. (PMID:33129983)
Cross-species orthologs
4 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | mtif2 | ENSDARG00000063213 |
| mus_musculus | Mtif2 | ENSMUSG00000020459 |
| rattus_norvegicus | Mtif2 | ENSRNOG00000004161 |
| drosophila_melanogaster | mIF2 | FBGN0039588 |
Paralogs (18): GTPBP1 (ENSG00000100226), EEF1A2 (ENSG00000101210), GSPT1 (ENSG00000103342), EFTUD2 (ENSG00000108883), HBS1L (ENSG00000112339), EIF2S3 (ENSG00000130741), EEFSEC (ENSG00000132394), EFL1 (ENSG00000140598), GUF1 (ENSG00000151806), EEF1A1 (ENSG00000156508), EIF5B (ENSG00000158417), GFM2 (ENSG00000164347), EEF2 (ENSG00000167658), GFM1 (ENSG00000168827), GTPBP2 (ENSG00000172432), TUFM (ENSG00000178952), EIF2S3B (ENSG00000180574), GSPT2 (ENSG00000189369)
Protein
Protein identifiers
Translation initiation factor IF-2, mitochondrial — P46199 (reviewed: P46199)
All UniProt accessions (7): P46199, A0A1D5RMP2, A0A1Y8EJN7, B5MCU1, C9JIY5, E7EW07, H7C213
UniProt curated annotations — full annotation on UniProt →
Function. One of the essential components for the initiation of protein synthesis. Protects formylmethionyl-tRNA from spontaneous hydrolysis and promotes its binding to the 30S ribosomal subunits. Also involved in the hydrolysis of GTP during the formation of the 70S ribosomal complex.
Subunit / interactions. Monomer.
Subcellular location. Mitochondrion.
Tissue specificity. Expressed in all tissues examined. Highest level in skeletal muscle.
Similarity. Belongs to the TRAFAC class translation factor GTPase superfamily. Classic translation factor GTPase family. IF-2 subfamily.
RefSeq proteins (7): NP_001005369, NP_001307930, NP_001307931, NP_001307932, NP_001307933, NP_001307934, NP_002444* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR000178 | TF_IF2_bacterial-like | Family |
| IPR000795 | T_Tr_GTP-bd_dom | Domain |
| IPR005225 | Small_GTP-bd | Domain |
| IPR009000 | Transl_B-barrel_sf | Homologous_superfamily |
| IPR015760 | TIF_IF2 | Family |
| IPR023115 | TIF_IF2_dom3 | Domain |
| IPR027417 | P-loop_NTPase | Homologous_superfamily |
| IPR036925 | TIF_IF2_dom3_sf | Homologous_superfamily |
| IPR044145 | IF2_II | Domain |
| IPR053905 | EF-G-like_DII | Domain |
Pfam: PF00009, PF11987, PF22042
UniProt features (59 total): strand 27, helix 13, turn 5, region of interest 5, binding site 3, sequence variant 2, transit peptide 1, chain 1, modified residue 1, domain 1
Structure
Experimental structures (PDB)
11 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 9OJM | ELECTRON MICROSCOPY | 2.5 |
| 8QRN | ELECTRON MICROSCOPY | 2.98 |
| 7PO2 | ELECTRON MICROSCOPY | 3.09 |
| 6GAZ | ELECTRON MICROSCOPY | 3.1 |
| 9HFO | ELECTRON MICROSCOPY | 3.1 |
| 6RW5 | ELECTRON MICROSCOPY | 3.14 |
| 6GAW | ELECTRON MICROSCOPY | 3.2 |
| 6GB2 | ELECTRON MICROSCOPY | 3.2 |
| 9G5E | ELECTRON MICROSCOPY | 3.2 |
| 9HFN | ELECTRON MICROSCOPY | 3.3 |
| 9IGT | ELECTRON MICROSCOPY | 5.96 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-P46199-F1 | 83.66 | 0.61 |
Functional residue map
Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.
Ligand- & substrate-binding residues (3): 288–291; 187–194; 234–237
Post-translational modifications (1): 688
Function
Pathways and Gene Ontology
Reactome pathways
1 pathways
| ID | Pathway |
|---|---|
| R-HSA-5368286 | Mitochondrial translation initiation |
MSigDB gene sets: 168 (showing top):
GOBP_CYTOPLASMIC_TRANSLATION, RODRIGUES_THYROID_CARCINOMA_POORLY_DIFFERENTIATED_UP, SWEET_KRAS_ONCOGENIC_SIGNATURE, GOBP_MITOCHONDRIAL_TRANSLATION, GOBP_TRANSLATIONAL_INITIATION, MORF_HDAC2, GOMF_TRANSLATION_INITIATION_FACTOR_ACTIVITY, CAGCTG_AP4_Q5, GOBP_TRANSLATION, WANG_LMO4_TARGETS_DN, GOBP_FORMATION_OF_TRANSLATION_PREINITIATION_COMPLEX, BLALOCK_ALZHEIMERS_DISEASE_UP, BYSTRYKH_HEMATOPOIESIS_STEM_CELL_AND_BRAIN_QTL_CIS, GOBP_CYTOPLASMIC_TRANSLATIONAL_INITIATION, BROWNE_HCMV_INFECTION_14HR_DN
GO Biological Process (6): formation of translation preinitiation complex (GO:0001731), ribosome disassembly (GO:0032790), mitochondrial translational initiation (GO:0070124), translation (GO:0006412), translational initiation (GO:0006413), regulation of translational initiation (GO:0006446)
GO Molecular Function (7): RNA binding (GO:0003723), translation initiation factor activity (GO:0003743), GTPase activity (GO:0003924), GTP binding (GO:0005525), translation factor activity, RNA binding (GO:0008135), ribosomal small subunit binding (GO:0043024), nucleotide binding (GO:0000166)
GO Cellular Component (5): nucleoplasm (GO:0005654), cytoplasm (GO:0005737), mitochondrion (GO:0005739), mitochondrial matrix (GO:0005759), intracellular organelle lumen (GO:0070013)
Reactome top-level categories
Rollup of top-1 pathways:
| Category | Pathways |
|---|---|
| Mitochondrial translation | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| translational initiation | 4 |
| mitochondrion | 2 |
| translation | 2 |
| translation factor activity | 2 |
| cellular anatomical structure | 2 |
| cytoplasmic translational initiation | 1 |
| protein-RNA complex assembly | 1 |
| organelle disassembly | 1 |
| mitochondrial translation | 1 |
| peptidyltransferase activity | 1 |
| translational elongation | 1 |
| translational termination | 1 |
| macromolecule biosynthetic process | 1 |
| protein metabolic process | 1 |
| protein biosynthetic process | 1 |
| formation of translation initiation ternary complex | 1 |
| metabolic process | 1 |
| regulation of translation | 1 |
| nucleic acid binding | 1 |
| ribonucleoside triphosphate phosphatase activity | 1 |
| guanyl ribonucleotide binding | 1 |
| purine ribonucleoside triphosphate binding | 1 |
| RNA binding | 1 |
| ribosome binding | 1 |
| nucleoside phosphate binding | 1 |
| heterocyclic compound binding | 1 |
| nuclear lumen | 1 |
| intracellular anatomical structure | 1 |
| cytoplasm | 1 |
| intracellular membrane-bounded organelle | 1 |
| intracellular organelle lumen | 1 |
| intracellular organelle | 1 |
| organelle lumen | 1 |
Protein interactions and networks
STRING
3592 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| MTIF2 | MTIF3 | Q9H2K0 | 860 |
| MTIF2 | MTRF1L | Q9UGC7 | 775 |
| MTIF2 | MTRF1 | O75570 | 724 |
| MTIF2 | MRRF | Q96E11 | 689 |
| MTIF2 | RNASEL | Q05823 | 688 |
| MTIF2 | MTFMT | Q96DP5 | 665 |
| MTIF2 | ATP5IF1 | Q9UII2 | 644 |
| MTIF2 | MALSU1 | Q96EH3 | 635 |
| MTIF2 | TSFM | P43897 | 625 |
| MTIF2 | GFM2 | Q969S9 | 583 |
| MTIF2 | MRPL58 | Q14197 | 572 |
| MTIF2 | TACO1 | Q9BSH4 | 557 |
| MTIF2 | C1orf105 | O95561 | 543 |
| MTIF2 | ERAL1 | O75616 | 540 |
| MTIF2 | MTG2 | Q9H4K7 | 536 |
IntAct
132 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| NDUFS7 | NDUFS8 | psi-mi:“MI:0914”(association) | 0.640 |
| TRMT61B | MTIF2 | psi-mi:“MI:0914”(association) | 0.610 |
| BPNT1 | GTPBP10 | psi-mi:“MI:0914”(association) | 0.530 |
| ECSIT | NDUFS8 | psi-mi:“MI:0914”(association) | 0.530 |
| NUDT6 | DENR | psi-mi:“MI:0914”(association) | 0.530 |
| MRM3 | NDUFS6 | psi-mi:“MI:0914”(association) | 0.530 |
| TUFM | ZMYM6 | psi-mi:“MI:0914”(association) | 0.530 |
| TSFM | CST4 | psi-mi:“MI:0914”(association) | 0.530 |
| MTG2 | HSPD1 | psi-mi:“MI:0914”(association) | 0.530 |
| PDHX | MTIF2 | psi-mi:“MI:0914”(association) | 0.530 |
| DIRAS3 | MTIF2 | psi-mi:“MI:0914”(association) | 0.530 |
| HSD17B8 | MTIF2 | psi-mi:“MI:0914”(association) | 0.530 |
| LDHAL6B | MTIF2 | psi-mi:“MI:0914”(association) | 0.530 |
| PMPCB | psi-mi:“MI:0914”(association) | 0.530 | |
| YBEY | NME4 | psi-mi:“MI:0914”(association) | 0.530 |
| ATP5F1D | NDUFB5 | psi-mi:“MI:0914”(association) | 0.530 |
| NIPSNAP3A | CLUH | psi-mi:“MI:0914”(association) | 0.530 |
| ARHGEF26 | CPS1 | psi-mi:“MI:0914”(association) | 0.530 |
| TUFM | MTIF2 | psi-mi:“MI:0914”(association) | 0.530 |
BioGRID (452): MTIF2 (Affinity Capture-MS), MTIF2 (Affinity Capture-MS), MTIF2 (Affinity Capture-MS), MTIF2 (Affinity Capture-MS), MTIF2 (Affinity Capture-MS), MTIF2 (Affinity Capture-MS), MTIF2 (Affinity Capture-MS), MTIF2 (Affinity Capture-MS), MTIF2 (Affinity Capture-MS), MTIF2 (Affinity Capture-MS), MTIF2 (Affinity Capture-MS), MTIF2 (Affinity Capture-MS), MTIF2 (Affinity Capture-MS), MTIF2 (Affinity Capture-MS), MTIF2 (Affinity Capture-MS)
ESM2 similar proteins: A4FUD1, A8N2M6, B0S6U7, B2B2C5, B5X2B8, B9FI63, E7FCP8, J9VS37, K7UTH7, O43824, O82626, O82653, O95831, P06625, P08240, P0CM18, P11637, P46198, P46199, Q09523, Q1K8F6, Q2KHZ2, Q3MHE8, Q3T0J9, Q4PB75, Q4V8H8, Q5NBJ3, Q5R6Y0, Q66GP9, Q69ZS7, Q6AXM7, Q6CEE1, Q6DCC6, Q6YPG5, Q7Z2Z2, Q8BH64, Q8C0D5, Q8C7H1, Q8JIF5, Q8MT06
Diamond homologs: A0B8Q6, A1RUX2, A1RXH6, A1WSZ8, A2BJZ8, A2STM8, A3CSP4, A3DMS0, A3MTU7, A4FZQ3, A4WIK2, A4YCQ5, A5IRJ6, A5UJM9, A6QFN0, A6U0C5, A6URS1, A6UVG0, A6VIS4, A7IAP7, A8A8D3, A8AUR6, A8MBV9, A8Z0C4, A9A813, B0R6U5, B1I8Z9, B1XV89, B1YCQ7, B2GUV7, B2J573, B5E6U5, B6YWH3, B8ZKU0, B9LQL7, C1CB46, C6A1V3, G0S8G9, O26359, O29490
SIGNOR signaling
0 interactions.
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 126 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 elongation | 12 | 17.5× | 8e-10 |
| Complex I biogenesis | 9 | 17.1× | 2e-07 |
| Mitochondrial ribosome-associated quality control | 12 | 16.9× | 8e-10 |
| Mitochondrial translation initiation | 10 | 14.6× | 2e-07 |
| Mitochondrial translation | 9 | 14.2× | 7e-07 |
| Mitochondrial translation termination | 10 | 12.6× | 4e-07 |
| Aerobic respiration and respiratory electron transport | 10 | 10.2× | 2e-06 |
| Translation | 11 | 7.8× | 6e-06 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| mitochondrial large ribosomal subunit assembly | 9 | 75.6× | 2e-13 |
| mitochondrial translation | 16 | 23.6× | 3e-15 |
| mitochondrial respiratory chain complex I assembly | 6 | 20.9× | 4e-05 |
| mitochondrial electron transport, NADH to ubiquinone | 6 | 18.2× | 7e-05 |
| proton motive force-driven mitochondrial ATP synthesis | 8 | 17.9× | 3e-06 |
| aerobic respiration | 7 | 14.7× | 4e-05 |
| translation | 8 | 7.0× | 1e-03 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
129 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 2 |
| Likely pathogenic | 0 |
| Uncertain significance | 99 |
| Likely benign | 8 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (2)
| Variant ID | HGVS | Classification |
|---|---|---|
| 225013 | NM_002453.3(MTIF2):c.573C>G (p.His191Gln) | Pathogenic |
| 520564 | NM_002453.3(MTIF2):c.899_909del (p.Val300fs) | Pathogenic |
SpliceAI
2627 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 2:55236822:T:C | acceptor_gain | 1.0000 |
| 2:55240007:TCA:T | donor_loss | 1.0000 |
| 2:55240008:CACC:C | donor_loss | 1.0000 |
| 2:55240009:A:AC | donor_gain | 1.0000 |
| 2:55240009:AC:A | donor_gain | 1.0000 |
| 2:55240010:C:CT | donor_gain | 1.0000 |
| 2:55240010:CC:C | donor_gain | 1.0000 |
| 2:55240010:CCT:C | donor_gain | 1.0000 |
| 2:55240010:CCTA:C | donor_gain | 1.0000 |
| 2:55240013:A:AC | donor_gain | 1.0000 |
| 2:55240014:C:CC | donor_gain | 1.0000 |
| 2:55240173:CAC:C | acceptor_gain | 1.0000 |
| 2:55243081:C:CA | acceptor_loss | 1.0000 |
| 2:55243082:T:A | acceptor_loss | 1.0000 |
| 2:55243451:T:A | donor_gain | 1.0000 |
| 2:55243452:C:A | donor_gain | 1.0000 |
| 2:55243521:T:TA | donor_gain | 1.0000 |
| 2:55243664:CTTGG:C | acceptor_gain | 1.0000 |
| 2:55243667:GG:G | acceptor_gain | 1.0000 |
| 2:55243669:C:CC | acceptor_gain | 1.0000 |
| 2:55243671:T:C | acceptor_gain | 1.0000 |
| 2:55243671:T:TC | acceptor_gain | 1.0000 |
| 2:55244042:T:TA | donor_gain | 1.0000 |
| 2:55244229:CAAGA:C | acceptor_gain | 1.0000 |
| 2:55244234:C:CC | acceptor_gain | 1.0000 |
| 2:55246331:TCCTA:T | donor_loss | 1.0000 |
| 2:55246332:CCTA:C | donor_loss | 1.0000 |
| 2:55246333:CTAC:C | donor_loss | 1.0000 |
| 2:55246334:TACC:T | donor_loss | 1.0000 |
| 2:55246335:A:AC | donor_gain | 1.0000 |
AlphaMissense
0 scored. Top likely-pathogenic:
dbSNP variants (sampled 300 via entrez): RS1000166719 (2:55256845 C>G,T), RS1000241597 (2:55249806 G>A), RS1000281912 (2:55253592 G>A), RS1000282780 (2:55237534 A>T), RS1000297870 (2:55265058 C>A,T), RS1000301360 (2:55255656 A>C,G), RS1000421806 (2:55269732 G>C), RS1000546372 (2:55248613 G>A,T), RS1000563610 (2:55253778 G>A), RS1000862135 (2:55250094 G>GA), RS1000909578 (2:55248275 T>C), RS1001030537 (2:55268629 A>G), RS1001214966 (2:55251077 T>A,C,G), RS1001355811 (2:55245314 G>A,C), RS1001502230 (2:55268278 T>C)
Disease associations
OMIM: gene MIM:603766 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
1 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST002593_2 | Dementia and core Alzheimer’s disease neuropathologic changes | 9.000000e-06 |
EFO canonical traits (1, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0006801 | Alzheimer’s disease neuropathologic change |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
32 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Air Pollutants | affects cotreatment, increases abundance, increases oxidation, decreases expression, increases expression | 3 |
| Arsenic | increases abundance, increases expression, affects methylation, affects cotreatment | 3 |
| bisphenol A | affects expression, decreases expression | 2 |
| sodium arsenite | increases expression, affects cotreatment, increases abundance | 2 |
| methacrylaldehyde | increases abundance, affects cotreatment, increases oxidation | 2 |
| bisphenol S | affects expression, increases expression | 2 |
| Acrolein | affects cotreatment, increases oxidation, increases abundance | 2 |
| Ozone | increases oxidation, increases abundance, affects cotreatment | 2 |
| Particulate Matter | decreases expression, increases abundance, increases expression | 2 |
| dicrotophos | decreases expression | 1 |
| triphenyl phosphate | affects expression | 1 |
| alpha-pinene | affects cotreatment, increases oxidation, increases abundance | 1 |
| trichostatin A | affects expression | 1 |
| beta-lapachone | decreases expression, increases expression | 1 |
| arsenite | affects binding, increases reaction | 1 |
| manganese chloride | affects cotreatment, increases abundance, increases expression | 1 |
| beta-methylcholine | affects expression | 1 |
| abrine | decreases expression | 1 |
| Acetaminophen | decreases expression | 1 |
| Chloramphenicol | decreases response to substance | 1 |
| Hydrogen Peroxide | affects expression | 1 |
| Manganese | affects cotreatment, increases abundance, increases expression | 1 |
| Nicotine | increases expression | 1 |
| Quercetin | decreases expression | 1 |
| Ribonucleotides | affects binding | 1 |
| Tretinoin | decreases expression | 1 |
| Josamycin | decreases response to substance | 1 |
| Clarithromycin | decreases response to substance | 1 |
| Cadmium Chloride | decreases expression | 1 |
| Copper Sulfate | 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): dementia