TIMM9
gene geneOn this page
Also known as TIM9A
Summary
TIMM9 (translocase of inner mitochondrial membrane 9, HGNC:11819) is a protein-coding gene on chromosome 14q23.1, encoding Mitochondrial import inner membrane translocase subunit Tim9 (Q9Y5J7). Mitochondrial intermembrane chaperone that participates in the import and insertion of multi-pass transmembrane proteins into the mitochondrial inner membrane. It is a selective cancer dependency (DepMap: 68.4% of cell lines).
TIMM9 belongs to a family of evolutionarily conserved proteins that are organized in heterooligomeric complexes in the mitochondrial intermembrane space. These proteins mediate the import and insertion of hydrophobic membrane proteins into the mitochondrial inner membrane.
Source: NCBI Gene 26520 — RefSeq curated summary.
At a glance
- GWAS associations: 1
- Clinical variants (ClinVar): 16 total
- Druggable target: yes
- Cancer dependency (DepMap): dependent in 68.4% of screened cell lines
- MANE Select transcript:
NM_012460
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:11819 |
| Approved symbol | TIMM9 |
| Name | translocase of inner mitochondrial membrane 9 |
| Location | 14q23.1 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | TIM9A |
| Ensembl gene | ENSG00000100575 |
| Ensembl biotype | protein_coding |
| OMIM | 607384 |
| Entrez | 26520 |
Gene structure
Transcript identifiers
Ensembl transcripts: 36 — 34 protein_coding, 2 protein_coding_CDS_not_defined
ENST00000216463, ENST00000395159, ENST00000555061, ENST00000555097, ENST00000555404, ENST00000555593, ENST00000555930, ENST00000556007, ENST00000556367, ENST00000557397, ENST00000871598, ENST00000871599, ENST00000871600, ENST00000871601, ENST00000871602, ENST00000871603, ENST00000922994, ENST00000922995, ENST00000922996, ENST00000922997, ENST00000922998, ENST00000922999, ENST00000923000, ENST00000923001, ENST00000923002, ENST00000923003, ENST00000923004, ENST00000923005, ENST00000923006, ENST00000923007, ENST00000923008, ENST00000923009, ENST00000923010, ENST00000923011, ENST00000923012, ENST00000941474
RefSeq mRNA: 8 — MANE Select: NM_012460
NM_001304485, NM_001304486, NM_001304487, NM_001304488, NM_001304489, NM_001304490, NM_001304491, NM_012460
CCDS: CCDS76685, CCDS86393, CCDS86394, CCDS9735
Canonical transcript exons
ENST00000395159 — 6 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001520754 | 58408495 | 58409168 |
| ENSE00001520773 | 58424008 | 58424095 |
| ENSE00001520774 | 58427054 | 58427242 |
| ENSE00002452592 | 58427392 | 58427531 |
| ENSE00003655999 | 58410843 | 58410938 |
| ENSE00003804185 | 58411907 | 58411971 |
Expression profiles
Bgee: expression breadth ubiquitous, 283 present calls, max score 97.32.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 23.9392 / max 288.0773, expressed in 1807 samples.
FANTOM5 promoters (6 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 143434 | 20.3951 | 1797 |
| 143433 | 1.4184 | 892 |
| 143436 | 1.3266 | 686 |
| 143437 | 0.3239 | 139 |
| 207236 | 0.2777 | 122 |
| 143435 | 0.1975 | 53 |
Top tissues by expression
287 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| body of pancreas | UBERON:0001150 | 97.32 | gold quality |
| ganglionic eminence | UBERON:0004023 | 95.63 | gold quality |
| hindlimb stylopod muscle | UBERON:0004252 | 95.52 | gold quality |
| pancreas | UBERON:0001264 | 94.83 | gold quality |
| colonic epithelium | UBERON:0000397 | 94.77 | gold quality |
| ventricular zone | UBERON:0003053 | 94.77 | gold quality |
| gastrocnemius | UBERON:0001388 | 94.57 | gold quality |
| left ovary | UBERON:0002119 | 94.36 | gold quality |
| primordial germ cell in gonad | CL:0000670 ∩ UBERON:0000991 | 94.31 | gold quality |
| muscle of leg | UBERON:0001383 | 94.30 | gold quality |
| muscle layer of sigmoid colon | UBERON:0035805 | 93.82 | gold quality |
| right ovary | UBERON:0002118 | 93.69 | gold quality |
| cortical plate | UBERON:0005343 | 93.69 | gold quality |
| omental fat pad | UBERON:0010414 | 93.47 | gold quality |
| peritoneum | UBERON:0002358 | 93.41 | gold quality |
| islet of Langerhans | UBERON:0000006 | 93.36 | gold quality |
| popliteal artery | UBERON:0002250 | 93.34 | gold quality |
| tibial artery | UBERON:0007610 | 93.34 | gold quality |
| endocervix | UBERON:0000458 | 93.03 | gold quality |
| olfactory segment of nasal mucosa | UBERON:0005386 | 93.01 | gold quality |
| ovary | UBERON:0000992 | 92.98 | gold quality |
| lower esophagus muscularis layer | UBERON:0035833 | 92.96 | gold quality |
| body of uterus | UBERON:0009853 | 92.94 | gold quality |
| lower esophagus | UBERON:0013473 | 92.94 | gold quality |
| body of stomach | UBERON:0001161 | 92.92 | gold quality |
| mucosa of stomach | UBERON:0001199 | 92.91 | gold quality |
| right adrenal gland cortex | UBERON:0035827 | 92.87 | gold quality |
| left adrenal gland | UBERON:0001234 | 92.77 | gold quality |
| esophagogastric junction muscularis propria | UBERON:0035841 | 92.77 | gold quality |
| left adrenal gland cortex | UBERON:0035825 | 92.76 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 11.00 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
33 targeting TIMM9, 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-4795-3P | 100.00 | 74.62 | 4024 |
| HSA-MIR-4282 | 99.99 | 75.36 | 6408 |
| HSA-MIR-4482-3P | 99.98 | 72.50 | 3147 |
| HSA-MIR-3605-5P | 99.96 | 67.12 | 932 |
| HSA-MIR-144-3P | 99.94 | 73.98 | 2698 |
| HSA-MIR-182-5P | 99.87 | 74.03 | 2589 |
| HSA-MIR-576-5P | 99.84 | 70.46 | 2582 |
| HSA-MIR-4420 | 99.82 | 70.08 | 1624 |
| HSA-MIR-181B-2-3P | 99.81 | 70.06 | 1646 |
| HSA-MIR-181B-3P | 99.81 | 70.06 | 1646 |
| HSA-MIR-4320 | 99.75 | 65.80 | 793 |
| HSA-MIR-132-3P | 99.73 | 70.56 | 1424 |
| HSA-MIR-212-3P | 99.73 | 70.65 | 1424 |
| HSA-MIR-4729 | 99.69 | 72.18 | 4233 |
| HSA-MIR-587 | 99.64 | 70.86 | 2611 |
| HSA-MIR-1827 | 99.63 | 68.57 | 3265 |
| HSA-MIR-4753-5P | 99.54 | 68.51 | 1356 |
| HSA-MIR-7159-3P | 99.51 | 70.17 | 1920 |
| HSA-MIR-766-3P | 99.47 | 65.24 | 1811 |
| HSA-MIR-8070 | 99.07 | 69.30 | 1303 |
| HSA-MIR-1304-5P | 98.90 | 68.58 | 1054 |
| HSA-MIR-3145-3P | 98.85 | 69.07 | 2031 |
| HSA-MIR-6894-5P | 98.70 | 63.78 | 809 |
| HSA-MIR-299-5P | 98.56 | 71.14 | 1140 |
| HSA-MIR-4766-3P | 98.48 | 67.94 | 1347 |
| HSA-MIR-1910-3P | 98.44 | 67.51 | 1695 |
| HSA-MIR-4704-3P | 98.28 | 69.33 | 1300 |
| HSA-MIR-4450 | 98.26 | 68.35 | 725 |
| HSA-MIR-1263 | 98.13 | 69.18 | 459 |
| HSA-MIR-6511A-5P | 98.13 | 67.47 | 1770 |
Functional genomics
DepMap (CRISPR cell-line fitness): dependent in 68.4% of screened cell lines.
Literature-anchored findings (GeneRIF, showing 3)
- in contrast to yeast, only a small fraction of Tim9-Tim10a-Tim10b complex is in a stable association with Tim22 (PMID:14726512)
- The crystal structure of TIM9.10 described here reveals a previously undescribed alpha-propeller topology in which helical “blades” radiate from a narrow central pore lined with polar residues. (PMID:16387659)
- in gastric cancer patients, a borderline association was found between overexpression of TIMM9 and vascular invasion; patients with high expression levels of TIMM9 achieved a significantly lower disease-free survival rate compared with those with low expression levels (PMID:27720672)
Cross-species orthologs
5 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | timm9 | ENSDARG00000043865 |
| mus_musculus | Timm9 | ENSMUSG00000021079 |
| rattus_norvegicus | Timm9 | ENSRNOG00000008222 |
| drosophila_melanogaster | Tim9a | FBGN0030480 |
| caenorhabditis_elegans | WBGENE00006572 |
Protein
Protein identifiers
Mitochondrial import inner membrane translocase subunit Tim9 — Q9Y5J7 (reviewed: Q9Y5J7)
All UniProt accessions (5): Q9Y5J7, A0A1W2PQS5, A0A1W2PRH9, G3V2F3, G3V502
UniProt curated annotations — full annotation on UniProt →
Function. Mitochondrial intermembrane chaperone that participates in the import and insertion of multi-pass transmembrane proteins into the mitochondrial inner membrane. May also be required for the transfer of beta-barrel precursors from the TOM complex to the sorting and assembly machinery (SAM complex) of the outer membrane. Acts as a chaperone-like protein that protects the hydrophobic precursors from aggregation and guide them through the mitochondrial intermembrane space.
Subunit / interactions. Heterohexamer; composed of 3 copies of TIMM9 and 3 copies of TIMM10/TIM10A, named soluble 70 kDa complex. The complex forms a 6-bladed alpha-propeller structure and associates with the TIMM22 component of the TIM22 complex. Interacts with multi-pass transmembrane proteins in transit. Also forms a complex composed of TIMM9, TIMM10/TIM10A and FXC1/TIM10B.
Subcellular location. Mitochondrion inner membrane.
Tissue specificity. Ubiquitous, with highest expression in heart, kidney, liver and skeletal muscle.
Domain organisation. The twin CX3C motif contains 4 conserved Cys residues that form 2 disulfide bonds in the mitochondrial intermembrane space. However, during the transit of TIMM9 from cytoplasm into mitochondrion, the Cys residues probably coordinate zinc, thereby preventing folding and allowing its transfer across mitochondrial outer membrane.
Similarity. Belongs to the small Tim family.
RefSeq proteins (8): NP_001291414, NP_001291415, NP_001291416, NP_001291417, NP_001291418, NP_001291419, NP_001291420, NP_036592* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR004217 | Tim10-like | Domain |
| IPR035427 | Tim10-like_dom_sf | Homologous_superfamily |
| IPR050673 | Mito_inner_translocase_sub | Family |
Pfam: PF02953
UniProt features (11 total): helix 3, disulfide bond 2, strand 2, initiator methionine 1, chain 1, short sequence motif 1, modified residue 1
Structure
Experimental structures (PDB)
2 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 2BSK | X-RAY DIFFRACTION | 3.3 |
| 7CGP | ELECTRON MICROSCOPY | 3.7 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q9Y5J7-F1 | 91.30 | 0.82 |
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 (1): 2
Disulfide bonds (2): 28–52, 32–48
Function
Pathways and Gene Ontology
Reactome pathways
2 pathways
| ID | Pathway |
|---|---|
| R-HSA-1268020 | Mitochondrial protein import |
| R-HSA-9837999 | Mitochondrial protein degradation |
MSigDB gene sets: 199 (showing top):
GSE18804_SPLEEN_MACROPHAGE_VS_TUMORAL_MACROPHAGE_UP, RORA1_01, GOBP_SENSORY_PERCEPTION_OF_MECHANICAL_STIMULUS, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_DN, GRAESSMANN_RESPONSE_TO_MC_AND_DOXORUBICIN_DN, GOBP_PROTEIN_TARGETING, TGACCTY_ERR1_Q2, GOBP_ESTABLISHMENT_OF_PROTEIN_LOCALIZATION_TO_ORGANELLE, GGGTGGRR_PAX4_03, USF_C, FREAC3_01, SHETH_LIVER_CANCER_VS_TXNIP_LOSS_PAM4, GOBP_INNER_MITOCHONDRIAL_MEMBRANE_ORGANIZATION, MYCMAX_01, GROSS_HYPOXIA_VIA_HIF1A_UP
GO Biological Process (4): obsolete protein targeting to mitochondrion (GO:0006626), sensory perception of sound (GO:0007605), protein transport (GO:0015031), protein insertion into mitochondrial inner membrane (GO:0045039)
GO Molecular Function (7): zinc ion binding (GO:0008270), membrane insertase activity (GO:0032977), protein homodimerization activity (GO:0042803), protein-folding chaperone binding (GO:0051087), protein transporter activity (GO:0140318), protein binding (GO:0005515), metal ion binding (GO:0046872)
GO Cellular Component (6): mitochondrion (GO:0005739), mitochondrial inner membrane (GO:0005743), mitochondrial intermembrane space (GO:0005758), mitochondrial intermembrane space chaperone complex (GO:0042719), TIM22 mitochondrial import inner membrane insertion complex (GO:0042721), membrane (GO:0016020)
Reactome top-level categories
Rollup of top-2 pathways:
| Category | Pathways |
|---|---|
| Protein localization | 1 |
| Metabolism of proteins | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| sensory perception of mechanical stimulus | 1 |
| transport | 1 |
| intracellular protein localization | 1 |
| establishment of protein localization | 1 |
| inner mitochondrial membrane organization | 1 |
| mitochondrial protein import pathway | 1 |
| transition metal ion binding | 1 |
| establishment of protein localization to membrane | 1 |
| protein carrier activity | 1 |
| identical protein binding | 1 |
| protein dimerization activity | 1 |
| protein binding | 1 |
| transporter activity | 1 |
| binding | 1 |
| cation binding | 1 |
| cytoplasm | 1 |
| intracellular membrane-bounded organelle | 1 |
| organelle inner membrane | 1 |
| mitochondrial membrane | 1 |
| mitochondrial envelope | 1 |
| organelle envelope lumen | 1 |
| mitochondrial intermembrane space | 1 |
| mitochondrial protein-containing complex | 1 |
| inner mitochondrial membrane protein complex | 1 |
| cellular anatomical structure | 1 |
Protein interactions and networks
STRING
1520 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| TIMM9 | TIMM10 | P62072 | 999 |
| TIMM9 | TIMM8A | O60220 | 982 |
| TIMM9 | TIMM13 | P62206 | 981 |
| TIMM9 | TIMM23 | O14925 | 904 |
| TIMM9 | TIMM22 | Q9Y584 | 897 |
| TIMM9 | CHCHD4 | Q8N4Q1 | 883 |
| TIMM9 | TIMM10B | Q9Y5J6 | 820 |
| TIMM9 | TIMM17A | Q99595 | 807 |
| TIMM9 | TIMM29 | Q9BSF4 | 783 |
| TIMM9 | TIMM21 | Q9BVV7 | 773 |
| TIMM9 | TOMM70 | O94826 | 744 |
| TIMM9 | TIMM50 | Q3ZCQ8 | 736 |
| TIMM9 | TIMM44 | O43615 | 733 |
| TIMM9 | SLC25A12 | O75746 | 733 |
| TIMM9 | TOMM40 | O96008 | 733 |
IntAct
33 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| TIMM9 | TIMM10 | psi-mi:“MI:0914”(association) | 0.830 |
| TIMM10 | TIMM9 | psi-mi:“MI:0915”(physical association) | 0.830 |
| TIMM9 | TIMM10 | psi-mi:“MI:0915”(physical association) | 0.830 |
| TIMM10B | TIMM10 | psi-mi:“MI:0914”(association) | 0.710 |
| TIMM10 | TIMM10B | psi-mi:“MI:0914”(association) | 0.710 |
| TIMM10B | TIMM10 | psi-mi:“MI:0915”(physical association) | 0.710 |
| TIMM10 | AGK | psi-mi:“MI:0914”(association) | 0.640 |
| rep | IDE | psi-mi:“MI:0914”(association) | 0.530 |
| ANKS6 | DCAF7 | psi-mi:“MI:0914”(association) | 0.510 |
| TIMM22 | TIMM10 | psi-mi:“MI:0914”(association) | 0.350 |
| BAD | PPP6C | psi-mi:“MI:0914”(association) | 0.350 |
| BAD | ERLIN1 | psi-mi:“MI:0914”(association) | 0.350 |
| rep | CEBPZOS | psi-mi:“MI:0914”(association) | 0.350 |
| FEV | PSMB4 | psi-mi:“MI:0914”(association) | 0.350 |
| FOXQ1 | TIMM8A | psi-mi:“MI:0914”(association) | 0.350 |
| PRDM1 | HSPD1 | psi-mi:“MI:0914”(association) | 0.350 |
| FGFR3 | TIMM8A | psi-mi:“MI:0914”(association) | 0.350 |
| TIMM10 | DCTN6 | psi-mi:“MI:0914”(association) | 0.350 |
| TIMM10 | IGLL5 | psi-mi:“MI:0914”(association) | 0.350 |
| AGK | RAB29 | psi-mi:“MI:0914”(association) | 0.350 |
| ATF2 | CLIC1 | psi-mi:“MI:0914”(association) | 0.350 |
| SLC14A2 | SMCHD1 | psi-mi:“MI:0914”(association) | 0.350 |
| SCO1 | HAX1 | psi-mi:“MI:2364”(proximity) | 0.270 |
| SFXN1 | HAX1 | psi-mi:“MI:2364”(proximity) | 0.270 |
| PARL | HAX1 | psi-mi:“MI:2364”(proximity) | 0.270 |
| KLF15 | TAF4 | psi-mi:“MI:2364”(proximity) | 0.270 |
| PRDM1 | ZNF609 | psi-mi:“MI:2364”(proximity) | 0.270 |
BioGRID (66): COX5A (Co-fractionation), NUDC (Co-fractionation), PTGES3 (Co-fractionation), TIMM10 (Co-fractionation), TIMM13 (Co-fractionation), TIMM8A (Co-fractionation), TIMM8B (Co-fractionation), TIMM9 (Co-fractionation), TIMM9 (Affinity Capture-MS), TIMM9 (Affinity Capture-MS), TIMM9 (Affinity Capture-MS), TIMM9 (Negative Genetic), TIMM9 (Positive Genetic), TIMM9 (Positive Genetic), TIMM9 (Negative Genetic)
ESM2 similar proteins: A4QNC6, B0BN94, O74700, P0CR96, P0CR97, P0CS00, P0CS01, P30629, P62075, P62076, P62077, P62078, Q10481, Q2HJI3, Q2KIV2, Q3SZ93, Q4I6B0, Q4V7R1, Q59MI8, Q59R24, Q5ZIR8, Q616Q2, Q61TH2, Q63ZH8, Q66L32, Q6BN23, Q6BU42, Q6CM57, Q6DEM5, Q6DGJ3, Q6FK81, Q6GPY0, Q6PBU0, Q75DU7, Q7SBR3, Q8AVK1, Q90YI5, Q96C01, Q9CR98, Q9N408
Diamond homologs: O74700, P0CR96, P0CR97, P57745, Q17754, Q2KIV2, Q4IB65, Q4V7R1, Q4WIQ2, Q559H1, Q568N4, Q59R24, Q5ZIR8, Q61TH2, Q6BU42, Q6C6Z2, Q6CM57, Q6FRT3, Q757S0, Q8J1Z1, Q9P7K0, Q9VYD7, Q9W762, Q9WV97, Q9WV98, Q9XGX7, Q9XGX8, Q9XGX9, Q9Y0V2, Q9Y5J7, Q9Y8A7, Q3SZW4, Q5RDJ0, Q6CWH5, Q6GR66, Q9R1B1, Q9WV96, Q9Y0V3, Q9Y5J6, P57744
SIGNOR signaling
2 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| TIMM9 | “form complex” | “TIM22 complex” | binding |
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 34 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 protein import | 5 | 36.5× | 4e-05 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
16 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 9 |
| Likely benign | 0 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
1141 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 14:58410605:G:C | donor_gain | 1.0000 |
| 14:58410838:CATA:C | donor_loss | 1.0000 |
| 14:58410839:ATAC:A | donor_loss | 1.0000 |
| 14:58410840:TA:T | donor_loss | 1.0000 |
| 14:58410841:A:C | donor_loss | 1.0000 |
| 14:58410842:CCT:C | donor_gain | 1.0000 |
| 14:58410934:TTAAA:T | acceptor_gain | 1.0000 |
| 14:58410935:TAAA:T | acceptor_gain | 1.0000 |
| 14:58410936:AAA:A | acceptor_gain | 1.0000 |
| 14:58410937:AA:A | acceptor_gain | 1.0000 |
| 14:58410937:AAC:A | acceptor_gain | 1.0000 |
| 14:58410937:AACTA:A | acceptor_loss | 1.0000 |
| 14:58410938:ACT:A | acceptor_gain | 1.0000 |
| 14:58410938:ACTA:A | acceptor_loss | 1.0000 |
| 14:58410939:C:CC | acceptor_gain | 1.0000 |
| 14:58410939:CT:C | acceptor_gain | 1.0000 |
| 14:58410939:CTACA:C | acceptor_loss | 1.0000 |
| 14:58410940:T:G | acceptor_gain | 1.0000 |
| 14:58410859:T:TA | donor_gain | 0.9900 |
| 14:58410935:TAAAC:T | acceptor_gain | 0.9900 |
| 14:58410936:AAACT:A | acceptor_gain | 0.9900 |
| 14:58411901:CCTTA:C | donor_loss | 0.9900 |
| 14:58411902:CTTA:C | donor_loss | 0.9900 |
| 14:58411903:TTAC:T | donor_loss | 0.9900 |
| 14:58411904:TA:T | donor_loss | 0.9900 |
| 14:58411905:ACCTG:A | donor_loss | 0.9900 |
| 14:58411970:ACCTA:A | acceptor_loss | 0.9900 |
| 14:58411972:CTA:C | acceptor_loss | 0.9900 |
| 14:58411973:T:G | acceptor_loss | 0.9900 |
| 14:58424091:CTTAC:C | acceptor_gain | 0.9900 |
AlphaMissense
0 scored. Top likely-pathogenic:
dbSNP variants (sampled 300 via entrez): RS1000199336 (14:58416477 C>T), RS1000242201 (14:58409647 C>T), RS1000296070 (14:58409959 G>A), RS1000418708 (14:58428917 A>G), RS1000477156 (14:58416109 T>G), RS1000605697 (14:58411763 C>A,T), RS1000671722 (14:58422158 C>G,T), RS1000775294 (14:58428896 C>T), RS1000807956 (14:58418352 A>G), RS1000819036 (14:58425068 T>C), RS1000912350 (14:58424696 C>T), RS1001074810 (14:58418628 A>T), RS1001177257 (14:58417199 C>G), RS1001251105 (14:58411205 T>C), RS1001364294 (14:58423916 A>G)
Disease associations
OMIM: gene MIM:607384 | 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 |
|---|---|---|
| GCST010703_93 | Brain morphology (MOSTest) | 6.000000e-54 |
EFO canonical traits (1, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0004346 | neuroimaging measurement |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: yes
ChEMBL targets (1): CHEMBL6066451 (SINGLE PROTEIN)
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
42 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Air Pollutants | decreases expression, increases abundance, increases expression | 3 |
| Cyclosporine | increases expression, increases methylation | 3 |
| Particulate Matter | decreases expression, increases abundance, increases expression | 3 |
| bisphenol A | affects expression, increases expression | 2 |
| Acetaminophen | affects response to substance, decreases expression | 2 |
| Tunicamycin | increases expression | 2 |
| 7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide | decreases expression | 2 |
| Cadmium Chloride | decreases expression | 2 |
| aristolochic acid I | decreases expression | 1 |
| bisphenol F | increases expression, affects cotreatment | 1 |
| beauvericin | affects cotreatment, decreases expression | 1 |
| deoxynivalenol | increases expression | 1 |
| beta-lapachone | increases expression | 1 |
| sodium arsenite | decreases expression | 1 |
| perfluorooctanoic acid | increases expression | 1 |
| beta-methylcholine | affects expression | 1 |
| enniatins | affects cotreatment, decreases expression | 1 |
| perfluoro-n-nonanoic acid | increases expression | 1 |
| 4-(4-((5-(4,5-dimethyl-2-nitrophenyl)-2-furanyl)methylene)-4,5-dihydro-3-methyl-5-oxo-1H-pyrazol-1-yl)benzoic acid | decreases expression | 1 |
| Resveratrol | affects cotreatment, decreases expression | 1 |
| Sunitinib | increases expression | 1 |
| Vehicle Emissions | increases abundance, increases expression | 1 |
| Benzo(a)pyrene | increases methylation | 1 |
| Cannabidiol | increases expression | 1 |
| Dichlorodiphenyl Dichloroethylene | increases expression | 1 |
| Dexamethasone | affects cotreatment, increases expression | 1 |
| Doxorubicin | decreases expression | 1 |
| Indomethacin | affects cotreatment, increases expression | 1 |
| Ivermectin | decreases expression | 1 |
| Plant Extracts | affects cotreatment, decreases expression | 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 |
|---|---|---|---|
| CHEMBL5652633 | Binding | Binding affinity to human TIMM9 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.