TOMM22
gene geneOn this page
Also known as TOM22
Summary
TOMM22 (translocase of outer mitochondrial membrane 22, HGNC:18002) is a protein-coding gene on chromosome 22q13.1, encoding Mitochondrial import receptor subunit TOM22 homolog (Q9NS69). Central receptor component of the translocase of the outer membrane of mitochondria (TOM) complex essential for the recognition and translocation of cytosolically synthesized mitochondrial preproteins. It is a common-essential gene (DepMap: required in 99.2% of cancer cell lines).
The protein encoded by this gene is an integral membrane protein of the mitochondrial outer membrane. The encoded protein interacts with TOMM20 and TOMM40, and forms a complex with several other proteins to import cytosolic preproteins into the mitochondrion.
Source: NCBI Gene 56993 — RefSeq curated summary.
At a glance
- GWAS associations: 3
- Clinical variants (ClinVar): 11 total
- Druggable target: yes
- Cancer dependency (DepMap): dependent in 99.2% of screened cell lines (common-essential)
- MANE Select transcript:
NM_020243
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:18002 |
| Approved symbol | TOMM22 |
| Name | translocase of outer mitochondrial membrane 22 |
| Location | 22q13.1 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | TOM22 |
| Ensembl gene | ENSG00000100216 |
| Ensembl biotype | protein_coding |
| OMIM | 607046 |
| Entrez | 56993 |
Gene structure
Transcript identifiers
Ensembl transcripts: 5 — 4 protein_coding, 1 retained_intron
ENST00000216034, ENST00000492561, ENST00000915615, ENST00000915616, ENST00000915617
RefSeq mRNA: 1 — MANE Select: NM_020243
NM_020243
CCDS: CCDS13975
Canonical transcript exons
ENST00000216034 — 4 exons
| Exon | Start | End |
|---|---|---|
| ENSE00000654439 | 38682323 | 38682441 |
| ENSE00000880314 | 38681957 | 38682095 |
| ENSE00000880315 | 38683767 | 38685421 |
| ENSE00003637957 | 38682879 | 38682996 |
Expression profiles
Bgee: expression breadth ubiquitous, 274 present calls, max score 97.86.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 94.9107 / max 422.9215, expressed in 1827 samples.
FANTOM5 promoters (2 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 192262 | 94.8676 | 1827 |
| 192263 | 0.0432 | 6 |
Top tissues by expression
286 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| tendon of biceps brachii | UBERON:0008188 | 97.86 | gold quality |
| mucosa of transverse colon | UBERON:0004991 | 96.13 | gold quality |
| rectum | UBERON:0001052 | 95.73 | gold quality |
| ganglionic eminence | UBERON:0004023 | 94.84 | gold quality |
| cortical plate | UBERON:0005343 | 94.73 | gold quality |
| medial globus pallidus | UBERON:0002477 | 94.60 | gold quality |
| monocyte | CL:0000576 | 94.33 | gold quality |
| apex of heart | UBERON:0002098 | 94.25 | gold quality |
| hindlimb stylopod muscle | UBERON:0004252 | 94.25 | gold quality |
| prefrontal cortex | UBERON:0000451 | 94.10 | gold quality |
| granulocyte | CL:0000094 | 94.02 | gold quality |
| leukocyte | CL:0000738 | 94.01 | gold quality |
| mononuclear cell | CL:0000842 | 93.92 | gold quality |
| islet of Langerhans | UBERON:0000006 | 93.85 | gold quality |
| transverse colon | UBERON:0001157 | 93.45 | gold quality |
| tendon | UBERON:0000043 | 93.41 | gold quality |
| esophagus mucosa | UBERON:0002469 | 93.40 | gold quality |
| buccal mucosa cell | CL:0002336 | 93.35 | gold quality |
| right adrenal gland | UBERON:0001233 | 93.10 | gold quality |
| right atrium auricular region | UBERON:0006631 | 93.04 | gold quality |
| left adrenal gland | UBERON:0001234 | 93.03 | gold quality |
| gastrocnemius | UBERON:0001388 | 93.02 | gold quality |
| heart left ventricle | UBERON:0002084 | 92.91 | gold quality |
| muscle of leg | UBERON:0001383 | 92.88 | gold quality |
| anterior cingulate cortex | UBERON:0009835 | 92.88 | gold quality |
| left adrenal gland cortex | UBERON:0035825 | 92.86 | gold quality |
| right adrenal gland cortex | UBERON:0035827 | 92.86 | gold quality |
| right testis | UBERON:0004534 | 92.77 | gold quality |
| cardiac ventricle | UBERON:0002082 | 92.72 | gold quality |
| cingulate cortex | UBERON:0003027 | 92.71 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | no | 0.00 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
46 targeting TOMM22, 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-4668-3P | 100.00 | 68.74 | 2635 |
| HSA-MIR-8485 | 100.00 | 77.57 | 4731 |
| HSA-MIR-4534 | 99.99 | 66.58 | 1907 |
| HSA-MIR-3617-3P | 99.98 | 67.86 | 918 |
| HSA-MIR-8082 | 99.95 | 67.27 | 1170 |
| HSA-MIR-4753-3P | 99.90 | 71.03 | 3786 |
| HSA-MIR-153-5P | 99.89 | 73.86 | 6317 |
| HSA-MIR-4524A-3P | 99.72 | 66.85 | 2406 |
| HSA-MIR-5700 | 99.64 | 69.88 | 2280 |
| HSA-MIR-587 | 99.64 | 70.86 | 2611 |
| HSA-MIR-4261 | 99.59 | 70.30 | 3415 |
| HSA-MIR-6733-3P | 99.54 | 67.80 | 1281 |
| HSA-MIR-4672 | 99.50 | 71.58 | 2893 |
| HSA-MIR-4687-3P | 99.48 | 66.41 | 968 |
| HSA-MIR-147B-5P | 99.45 | 70.62 | 2432 |
| HSA-MIR-889-5P | 99.41 | 68.75 | 1025 |
| HSA-MIR-6505-3P | 99.34 | 67.39 | 1071 |
| HSA-MIR-130A-5P | 99.33 | 70.26 | 2623 |
| HSA-MIR-3614-5P | 99.30 | 65.25 | 837 |
| HSA-MIR-593-3P | 99.22 | 67.28 | 1327 |
| HSA-MIR-4291 | 99.20 | 68.88 | 2969 |
| HSA-MIR-4426 | 99.17 | 66.74 | 1949 |
| HSA-MIR-491-5P | 99.13 | 65.98 | 1468 |
| HSA-MIR-371A-5P | 99.08 | 66.51 | 1914 |
| HSA-MIR-4478 | 99.07 | 65.16 | 2320 |
| HSA-MIR-922 | 99.02 | 67.23 | 1838 |
| HSA-MIR-3619-5P | 99.00 | 68.87 | 2308 |
| HSA-MIR-361-5P | 98.95 | 70.16 | 1340 |
| HSA-MIR-455-5P | 98.74 | 67.31 | 795 |
| HSA-MIR-214-3P | 98.71 | 68.12 | 2128 |
Functional genomics
DepMap (CRISPR cell-line fitness): dependent in 99.2% of screened cell lines, common-essential.
Literature-anchored findings (GeneRIF, showing 10)
- Levels of Tom22 in mitochondria accelerate the rate of Tom7 assembly into the mature TOM complex. (PMID:12198123)
- the cytosolic domains of Tom20 and Tom22 function to maintain their substrate preproteins unfolded and prevent them from aggregating on the mitochondrial surface (PMID:14699115)
- We have identified TOM22, a component of the translocase of the outer mitochondrial membrane (TOM), as a mitochondrial receptor of Bax. (PMID:17096026)
- Studies indicate that PUMA and TOMM22 as potential targets for miRNA-BART viral transcripts. (PMID:22178394)
- The interaction with the cytosolic domain of Tom22 helps Bax to acquire a conformation able to interact with the outer mitochondrial membrane. (PMID:22198199)
- Blockade of mitochondrial protein import triggers the recruitment of PARK2, by PINK1, to the TOMM machinery. (PMID:24149440)
- Tom22 is essential for metabolic conversion, as its knockdown by small interfering RNA (siRNA) completely ablated progesterone conversion in both steroidogenic mouse Leydig MA-10 and human adrenal NCI cells. (PMID:26787839)
- A directed proteomic approach discovered the novel interaction of BKCa with Tom22, a component of the mitochondrion outer membrane import system, and the adenine nucleotide translocator (ANT). (PMID:27592226)
- Structural basis of Tom20 and Tom22 cytosolic domains as the human TOM complex receptors. (PMID:35733257)
- Mitochondrial Translocase TOMM22 Is Overexpressed in Pancreatic Cancer and Promotes Aggressive Growth by Modulating Mitochondrial Protein Import and Function. (PMID:37878010)
Cross-species orthologs
5 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | tomm22 | ENSDARG00000045146 |
| mus_musculus | Tomm22 | ENSMUSG00000022427 |
| rattus_norvegicus | Tomm22 | ENSRNOG00000014058 |
| drosophila_melanogaster | mge | FBGN0035473 |
| caenorhabditis_elegans | WBGENE00021133 |
Protein
Protein identifiers
Mitochondrial import receptor subunit TOM22 homolog — Q9NS69 (reviewed: Q9NS69)
Alternative names: 1C9-2, Translocase of outer membrane 22 kDa subunit homolog
All UniProt accessions (2): Q9NS69, Q549C5
UniProt curated annotations — full annotation on UniProt →
Function. Central receptor component of the translocase of the outer membrane of mitochondria (TOM) complex essential for the recognition and translocation of cytosolically synthesized mitochondrial preproteins. Together with the peripheral receptor TOMM20, functions as the transit peptide receptor and facilitates the movement of preproteins into the translocation pore. The TOM complex associates with the ion channel VDAC2 and PINK1 kinase at depolarized mitochondria, this interaction stabilizes PINK1 at the outer mitochondrial membrane and triggers downstream mitophagy by the recruitment of the E3 ubiquitin ligase PRKN. Required for the translocation across the mitochondrial outer membrane of cytochrome P450 monooxygenases.
Subunit / interactions. Part of the translocase of the outer mitochondrial membrane (TOM complex) consisting of at least TOMM5, TOMM6, TOMM7, TOMM20, TOMM22 and TOMM40. TOMM70 may also be found in the TOM complex. The TOM complex interacts with the VDAC2 homodimer. Upon mitochondrial depolarization, the TOM-VDAC assembly interacts with PINK1; the interaction stabilizes PINK1 at the outer mitochondrial membrane and triggers downstream mitophagy. Interacts with PPP2R2B.
Subcellular location. Mitochondrion outer membrane.
Tissue specificity. Ubiquitous.
Domain organisation. Requires the transmembrane domain (TMD), a short segment (the import sequence) in the cytoplasmic domain localizing separately from the TMD and the C-tail signal in the C-terminal domain for efficient targeting and integration into the TOM complex. The N-terminal domain (residues 1-62) is important for binding to the unfolded mature imported proteins. Residues (49-71) of the cytoplasmic domain interacts with TOMM20 while the C-terminal segment (residues 63-82) binds presequence of preproteins.
Similarity. Belongs to the Tom22 family.
RefSeq proteins (1): NP_064628* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR005683 | Tom22 | Family |
Pfam: PF04281
UniProt features (20 total): helix 5, modified residue 4, region of interest 4, compositionally biased region 2, topological domain 2, initiator methionine 1, chain 1, transmembrane region 1
Structure
Experimental structures (PDB)
12 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 7VD2 | ELECTRON MICROSCOPY | 2.53 |
| 7VBY | ELECTRON MICROSCOPY | 2.54 |
| 9EII | ELECTRON MICROSCOPY | 2.75 |
| 9JXV | ELECTRON MICROSCOPY | 2.89 |
| 8XDN | ELECTRON MICROSCOPY | 2.93 |
| 7CP9 | ELECTRON MICROSCOPY | 3 |
| 9EIH | ELECTRON MICROSCOPY | 3.1 |
| 9EIJ | ELECTRON MICROSCOPY | 3.3 |
| 7CK6 | ELECTRON MICROSCOPY | 3.4 |
| 7VC4 | ELECTRON MICROSCOPY | 3.74 |
| 7VDD | ELECTRON MICROSCOPY | 3.74 |
| 8XVA | ELECTRON MICROSCOPY | 5.92 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q9NS69-F1 | 72.65 | 0.23 |
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 (4): 2, 15, 43, 45
Function
Pathways and Gene Ontology
Reactome pathways
2 pathways
| ID | Pathway |
|---|---|
| R-HSA-1268020 | Mitochondrial protein import |
| R-HSA-5205685 | PINK1-PRKN Mediated Mitophagy |
MSigDB gene sets: 167 (showing top):
GSE45365_NK_CELL_VS_CD8_TCELL_DN, ELVIDGE_HYPOXIA_DN, RODRIGUES_THYROID_CARCINOMA_POORLY_DIFFERENTIATED_UP, GOBP_INTRACELLULAR_PROTEIN_TRANSPORT, GOBP_PROTEIN_TARGETING, GOBP_ESTABLISHMENT_OF_PROTEIN_LOCALIZATION_TO_ORGANELLE, AMIT_SERUM_RESPONSE_40_MCF10A, TGCTGAY_UNKNOWN, GOBP_ESTABLISHMENT_OF_PROTEIN_LOCALIZATION_TO_MEMBRANE, GOCC_MITOCHONDRIAL_ENVELOPE, AACTTT_UNKNOWN, GOBP_PROTEIN_LOCALIZATION_TO_ORGANELLE, NRF2_01, GOBP_PROTEIN_TRANSMEMBRANE_TRANSPORT, GOBP_MEMBRANE_ORGANIZATION
GO Biological Process (5): obsolete protein targeting to mitochondrion (GO:0006626), intracellular protein transport (GO:0006886), protein import into mitochondrial matrix (GO:0030150), protein insertion into mitochondrial outer membrane (GO:0045040), protein transport (GO:0015031)
GO Molecular Function (3): transmembrane protein transporter activity (GO:0008320), mitochondrion targeting sequence binding (GO:0030943), protein binding (GO:0005515)
GO Cellular Component (5): mitochondrion (GO:0005739), mitochondrial outer membrane (GO:0005741), mitochondrial outer membrane translocase complex (GO:0005742), membrane (GO:0016020), TOM complex (GO:0140596)
Reactome top-level categories
Rollup of top-2 pathways:
| Category | Pathways |
|---|---|
| Protein localization | 1 |
| Mitophagy | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| intracellular protein localization | 2 |
| protein transport | 1 |
| intracellular transport | 1 |
| protein transmembrane import into intracellular organelle | 1 |
| protein localization to mitochondrion | 1 |
| import into the mitochondrion | 1 |
| mitochondrial protein import pathway | 1 |
| outer mitochondrial membrane organization | 1 |
| protein insertion into mitochondrial membrane | 1 |
| transport | 1 |
| establishment of protein localization | 1 |
| macromolecule transmembrane transporter activity | 1 |
| protein transmembrane transport | 1 |
| protein transporter activity | 1 |
| signal sequence receptor activity | 1 |
| binding | 1 |
| cytoplasm | 1 |
| intracellular membrane-bounded organelle | 1 |
| mitochondrial membrane | 1 |
| organelle outer membrane | 1 |
| outer mitochondrial membrane protein complex | 1 |
| cellular anatomical structure | 1 |
| mitochondrial outer membrane translocase complex | 1 |
Protein interactions and networks
STRING
2740 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| TOMM22 | TOMM70 | O94826 | 999 |
| TOMM22 | TOMM40 | O96008 | 999 |
| TOMM22 | TOMM20 | Q15388 | 999 |
| TOMM22 | TOMM7 | Q9P0U1 | 999 |
| TOMM22 | TOMM5 | Q8N4H5 | 996 |
| TOMM22 | TOMM6 | Q96B49 | 996 |
| TOMM22 | SAMM50 | Q9Y512 | 968 |
| TOMM22 | TIMM21 | Q9BVV7 | 922 |
| TOMM22 | TIMM50 | Q3ZCQ8 | 911 |
| TOMM22 | STAR | P49675 | 892 |
| TOMM22 | TIMM23 | O14925 | 876 |
| TOMM22 | TIMM17A | Q99595 | 872 |
| TOMM22 | TIMM44 | O43615 | 851 |
| TOMM22 | TIMM13 | P62206 | 817 |
| TOMM22 | PINK1 | Q9BXM7 | 784 |
IntAct
146 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| TOMM22 | TOMM40 | psi-mi:“MI:0915”(physical association) | 0.740 |
| TOMM22 | TOMM40 | psi-mi:“MI:0914”(association) | 0.740 |
| CFTR | ESYT2 | psi-mi:“MI:2364”(proximity) | 0.710 |
| TOMM22 | XRCC3 | psi-mi:“MI:0914”(association) | 0.640 |
| AQP6 | TOMM22 | psi-mi:“MI:0915”(physical association) | 0.560 |
| LAMP2 | TOMM22 | psi-mi:“MI:0915”(physical association) | 0.560 |
| SH3GLB1 | TOMM22 | psi-mi:“MI:0915”(physical association) | 0.560 |
| HTT | TOMM22 | psi-mi:“MI:0915”(physical association) | 0.560 |
| ILK | HAX1 | psi-mi:“MI:0914”(association) | 0.530 |
| TMEM184A | SLC33A1 | psi-mi:“MI:0914”(association) | 0.530 |
| SFXN5 | TOMM40 | psi-mi:“MI:0914”(association) | 0.530 |
| M | TOMM22 | psi-mi:“MI:0915”(physical association) | 0.520 |
| STOM | EI24 | psi-mi:“MI:0914”(association) | 0.510 |
| NRAS | ESYT2 | psi-mi:“MI:2364”(proximity) | 0.480 |
| TOMM20 | TPP1 | psi-mi:“MI:0914”(association) | 0.480 |
| LTK | PIK3R2 | psi-mi:“MI:0914”(association) | 0.420 |
| TOMM7 | TOMM22 | psi-mi:“MI:0915”(physical association) | 0.400 |
| TOMM22 | TOMM7 | psi-mi:“MI:0915”(physical association) | 0.400 |
BioGRID (599): TOMM22 (Two-hybrid), TOMM22 (Affinity Capture-MS), TOMM22 (Affinity Capture-MS), TOMM22 (Affinity Capture-MS), CLTC (Co-fractionation), EHD1 (Co-fractionation), HSD17B12 (Co-fractionation), PDHA1 (Co-fractionation), SSR3 (Co-fractionation), SSR4 (Co-fractionation), TOMM22 (Co-fractionation), TOMM22 (Co-fractionation), TOMM22 (Co-fractionation), TOMM22 (Co-fractionation), TOMM22 (Co-fractionation)
ESM2 similar proteins: A0A1B0GVV1, A0M8U1, A6H6W9, A6QPI6, B1AZA5, D3ZXD8, D4ABL6, E1BWM5, E9PV86, F1QH17, G3MWR8, O43399, P01134, P01135, Q0X0A5, Q1RLU8, Q29S14, Q2PG42, Q3KNM2, Q3SZB3, Q3ZC24, Q3ZCQ8, Q4R3C7, Q5RAJ8, Q5RBB8, Q5RCT1, Q5SQY2, Q5ZJ41, Q5ZJB7, Q6AYJ2, Q6DN14, Q6GM44, Q6ZVM7, Q75Q41, Q7RTP6, Q8BR65, Q8CJ19, Q8IVP5, Q8K1Z0, Q8TF64
Diamond homologs: A6QPI6, O17287, Q4R3C7, Q75Q41, Q9CPQ3, Q9NS69, O64497, Q9FNC9
SIGNOR signaling
1 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| TOMM22 | “form complex” | “TOM40 complex” | binding |
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 158 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 |
|---|---|---|---|
| Signaling by phosphorylated juxtamembrane, extracellular and kinase domain KIT mutants | 5 | 24.7× | 2e-04 |
| Downstream signal transduction | 5 | 18.1× | 7e-04 |
| PINK1-PRKN Mediated Mitophagy | 5 | 17.0× | 7e-04 |
| RAF activation | 5 | 16.0× | 9e-04 |
| Signaling by high-kinase activity BRAF mutants | 5 | 15.1× | 1e-03 |
| MAP2K and MAPK activation | 5 | 13.6× | 1e-03 |
| Signaling by RAF1 mutants | 5 | 13.3× | 1e-03 |
| Negative regulation of MAPK pathway | 5 | 12.7× | 1e-03 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| obsolete protein targeting to mitochondrion | 6 | 25.8× | 6e-05 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
11 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 8 |
| Likely benign | 0 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
319 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 22:38682092:GGAG:G | donor_gain | 1.0000 |
| 22:38682093:G:GT | donor_gain | 1.0000 |
| 22:38682095:GG:G | donor_loss | 1.0000 |
| 22:38682096:GTACT:G | donor_loss | 1.0000 |
| 22:38682097:T:A | donor_loss | 1.0000 |
| 22:38682875:GCA:G | acceptor_loss | 1.0000 |
| 22:38682877:A:AG | acceptor_gain | 1.0000 |
| 22:38682877:A:G | acceptor_loss | 1.0000 |
| 22:38682877:AG:A | acceptor_gain | 1.0000 |
| 22:38682878:G:GA | acceptor_gain | 1.0000 |
| 22:38682878:GG:G | acceptor_gain | 1.0000 |
| 22:38682878:GGT:G | acceptor_gain | 1.0000 |
| 22:38682878:GGTT:G | acceptor_gain | 1.0000 |
| 22:38682878:GGTTT:G | acceptor_gain | 1.0000 |
| 22:38682994:CAGG:C | donor_loss | 1.0000 |
| 22:38682995:AGGTG:A | donor_loss | 1.0000 |
| 22:38682996:GGTG:G | donor_loss | 1.0000 |
| 22:38682997:G:T | donor_loss | 1.0000 |
| 22:38682998:T:A | donor_loss | 1.0000 |
| 22:38682078:G:GT | donor_gain | 0.9900 |
| 22:38682081:G:GT | donor_gain | 0.9900 |
| 22:38682093:G:T | donor_gain | 0.9900 |
| 22:38682322:GCTA:G | acceptor_gain | 0.9900 |
| 22:38682440:AG:A | donor_loss | 0.9900 |
| 22:38682442:GTAAG:G | donor_loss | 0.9900 |
| 22:38682874:T:TA | acceptor_gain | 0.9900 |
| 22:38682874:TGCAG:T | acceptor_gain | 0.9900 |
| 22:38682875:GCAGG:G | acceptor_gain | 0.9900 |
| 22:38682876:CAGGT:C | acceptor_gain | 0.9900 |
| 22:38682877:AGGT:A | acceptor_gain | 0.9900 |
AlphaMissense
909 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 22:38682893:C:A | A84D | 1.000 |
| 22:38682898:T:A | W86R | 1.000 |
| 22:38682898:T:C | W86R | 1.000 |
| 22:38682904:G:A | G88R | 1.000 |
| 22:38682904:G:C | G88R | 1.000 |
| 22:38682905:G:A | G88E | 1.000 |
| 22:38682926:T:C | L95P | 1.000 |
| 22:38682932:T:A | L97H | 1.000 |
| 22:38682934:C:T | P98S | 1.000 |
| 22:38682935:C:A | P98H | 1.000 |
| 22:38682935:C:G | P98R | 1.000 |
| 22:38683768:T:C | I119T | 1.000 |
| 22:38683771:T:A | L120H | 1.000 |
| 22:38683777:G:A | G122E | 1.000 |
| 22:38682345:G:C | R47T | 0.999 |
| 22:38682346:A:C | R47S | 0.999 |
| 22:38682346:A:T | R47S | 0.999 |
| 22:38682353:G:C | G50R | 0.999 |
| 22:38682357:T:A | L51Q | 0.999 |
| 22:38682357:T:C | L51P | 0.999 |
| 22:38682366:T:C | M54T | 0.999 |
| 22:38682393:C:A | A63D | 0.999 |
| 22:38682426:C:A | A74D | 0.999 |
| 22:38682887:G:T | R82M | 0.999 |
| 22:38682892:G:C | A84P | 0.999 |
| 22:38682900:G:C | W86C | 0.999 |
| 22:38682900:G:T | W86C | 0.999 |
| 22:38682911:C:T | T90I | 0.999 |
| 22:38682913:T:C | S91P | 0.999 |
| 22:38682914:C:A | S91Y | 0.999 |
dbSNP variants (sampled 300 via entrez): RS1000228231 (22:38681947 C>A,T), RS1000917266 (22:38683468 A>C), RS1000963116 (22:38683151 G>GC,GT), RS1001231812 (22:38680933 A>G,T), RS1002417674 (22:38684629 G>A,C), RS1002750836 (22:38684290 A>G), RS1003774980 (22:38685420 T>C), RS1005333871 (22:38684379 G>A), RS1005750456 (22:38681888 G>C,T), RS1006013666 (22:38682757 G>A,C), RS1006092541 (22:38681651 T>C), RS1006506560 (22:38683073 T>C), RS1007708892 (22:38682798 G>A,C), RS1008197529 (22:38683201 T>C), RS1008603427 (22:38684965 A>G)
Disease associations
OMIM: gene MIM:607046 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
3 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST003818_40 | Resting heart rate | 5.000000e-16 |
| GCST007561_72 | Sleep duration | 4.000000e-08 |
| GCST007614_7 | C-reactive protein levels | 7.000000e-14 |
EFO canonical traits (1, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0004458 | C-reactive protein measurement |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: yes
ChEMBL targets (1): CHEMBL6067373 (SINGLE PROTEIN)
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 | increases expression, decreases expression, affects cotreatment, increases abundance | 3 |
| Acetaminophen | decreases expression | 2 |
| GSK-J4 | decreases expression | 1 |
| FR900359 | increases phosphorylation | 1 |
| beauvericin | affects cotreatment, decreases expression | 1 |
| deoxynivalenol | decreases expression | 1 |
| O,O-diethyl O-3,5,6-trichloro-2-pyridyl phosphate | affects expression, affects response to substance | 1 |
| arsenite | affects binding, increases reaction | 1 |
| cobaltous chloride | decreases expression | 1 |
| manganese chloride | increases expression, affects cotreatment, increases abundance | 1 |
| coumarin | increases phosphorylation | 1 |
| 2,3,5-(triglutathion-S-yl)hydroquinone | increases ADP-ribosylation, decreases ADP-ribosylation | 1 |
| enniatins | affects cotreatment, decreases expression | 1 |
| K 7174 | decreases expression | 1 |
| 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide | affects cotreatment, decreases expression | 1 |
| LDN 193189 | affects cotreatment, decreases expression | 1 |
| Arsenic | affects cotreatment, increases abundance, increases expression | 1 |
| Atrazine | decreases expression | 1 |
| Benzo(a)pyrene | decreases expression | 1 |
| Dichlorodiphenyl Dichloroethylene | increases expression | 1 |
| Ethyl Methanesulfonate | decreases expression | 1 |
| Ivermectin | decreases expression | 1 |
| Manganese | increases expression, affects cotreatment, increases abundance | 1 |
| Methyl Methanesulfonate | decreases expression | 1 |
| Quercetin | decreases expression | 1 |
| Smoke | decreases expression | 1 |
| Thiram | decreases expression | 1 |
| Tretinoin | decreases expression | 1 |
| Tunicamycin | decreases expression | 1 |
| Valproic Acid | decreases methylation | 1 |
ChEMBL screening assays
1 unique, capped per target: 1 binding
Representative assays (with source publication via chembl_document):
| Assay ID | Type | Description | Source paper |
|---|---|---|---|
| CHEMBL5652673 | Binding | Binding affinity to human TOMM22 incubated for 45 mins by Kinobead based pull down assay | NVP-BHG712: Effects of Regioisomers on the Affinity and Selectivity toward the EPHrin Family. — ChemMedChem |
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.