TMED9
gene geneOn this page
Also known as HSGP25L2Gp24alpha2p24a2
Summary
TMED9 (transmembrane p24 trafficking protein 9, HGNC:24878) is a protein-coding gene on chromosome 5q35.3, encoding Transmembrane emp24 domain-containing protein 9 (Q9BVK6). Appears to be involved in vesicular protein trafficking, mainly in the early secretory pathway.
This gene is a member of a family of genes encoding transport proteins located in the endoplasmic reticulum and the Golgi. A similar gene in mouse is the target of microRNA miR-296, which is part of an imprinted cluster.
Source: NCBI Gene 54732 — RefSeq curated summary.
At a glance
- GWAS associations: 4
- Clinical variants (ClinVar): 25 total
- Druggable target: yes
- MANE Select transcript:
NM_017510
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:24878 |
| Approved symbol | TMED9 |
| Name | transmembrane p24 trafficking protein 9 |
| Location | 5q35.3 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | HSGP25L2G, p24alpha2, p24a2 |
| Ensembl gene | ENSG00000184840 |
| Ensembl biotype | protein_coding |
| OMIM | 620436 |
| Entrez | 54732 |
Gene structure
Transcript identifiers
Ensembl transcripts: 11 — 6 protein_coding, 4 retained_intron, 1 protein_coding_CDS_not_defined
ENST00000332598, ENST00000505521, ENST00000507578, ENST00000507723, ENST00000510499, ENST00000513799, ENST00000884817, ENST00000937296, ENST00000937297, ENST00000937298, ENST00000937299
RefSeq mRNA: 1 — MANE Select: NM_017510
NM_017510
CCDS: CCDS4428
Canonical transcript exons
ENST00000332598 — 5 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001322571 | 177592203 | 177592398 |
| ENSE00001324321 | 177595267 | 177597242 |
| ENSE00003556056 | 177594139 | 177594285 |
| ENSE00003623827 | 177593650 | 177593775 |
| ENSE00003681144 | 177592575 | 177592675 |
Expression profiles
Bgee: expression breadth ubiquitous, 295 present calls, max score 99.55.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 117.2455 / max 546.6957, expressed in 1828 samples.
FANTOM5 promoters (4 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 60501 | 114.2502 | 1828 |
| 60500 | 1.8626 | 1203 |
| 60502 | 0.8514 | 478 |
| 60503 | 0.2814 | 125 |
Top tissues by expression
295 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| tendon of biceps brachii | UBERON:0008188 | 99.55 | gold quality |
| cervix squamous epithelium | UBERON:0006922 | 99.48 | gold quality |
| tibia | UBERON:0000979 | 99.33 | gold quality |
| stromal cell of endometrium | CL:0002255 | 99.20 | gold quality |
| pylorus | UBERON:0001166 | 99.13 | gold quality |
| pericardium | UBERON:0002407 | 99.06 | gold quality |
| choroid plexus epithelium | UBERON:0003911 | 99.05 | gold quality |
| germinal epithelium of ovary | UBERON:0001304 | 98.97 | gold quality |
| body of pancreas | UBERON:0001150 | 98.92 | gold quality |
| parotid gland | UBERON:0001831 | 98.91 | gold quality |
| visceral pleura | UBERON:0002401 | 98.90 | gold quality |
| gingival epithelium | UBERON:0001949 | 98.89 | gold quality |
| squamous epithelium | UBERON:0006914 | 98.88 | gold quality |
| trachea | UBERON:0003126 | 98.79 | gold quality |
| esophagus squamous epithelium | UBERON:0006920 | 98.68 | gold quality |
| amniotic fluid | UBERON:0000173 | 98.60 | gold quality |
| epithelium of esophagus | UBERON:0001976 | 98.59 | gold quality |
| superior surface of tongue | UBERON:0007371 | 98.59 | gold quality |
| cardia of stomach | UBERON:0001162 | 98.57 | gold quality |
| gingiva | UBERON:0001828 | 98.54 | gold quality |
| tongue squamous epithelium | UBERON:0006919 | 98.53 | gold quality |
| pleura | UBERON:0000977 | 98.50 | gold quality |
| epithelium of nasopharynx | UBERON:0001951 | 98.48 | gold quality |
| endothelial cell | CL:0000115 | 98.42 | gold quality |
| parietal pleura | UBERON:0002400 | 98.40 | gold quality |
| hair follicle | UBERON:0002073 | 98.35 | gold quality |
| renal glomerulus | UBERON:0000074 | 98.34 | gold quality |
| type B pancreatic cell | CL:0000169 | 98.33 | gold quality |
| corpus epididymis | UBERON:0004359 | 98.31 | gold quality |
| saliva-secreting gland | UBERON:0001044 | 98.26 | gold quality |
Single-cell (SCXA)
Detected in 12 experiment(s), a significant marker in 11.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-CURD-88 | yes | 93.20 |
| E-MTAB-9467 | yes | 55.29 |
| E-HCAD-4 | yes | 52.70 |
| E-CURD-122 | yes | 42.24 |
| E-HCAD-1 | yes | 39.06 |
| E-HCAD-5 | yes | 38.30 |
| E-CURD-46 | yes | 34.52 |
| E-HCAD-9 | yes | 18.49 |
| E-MTAB-10553 | yes | 9.85 |
| E-CURD-112 | yes | 8.58 |
| E-MTAB-7052 | no | 395.71 |
| E-ANND-3 | no | 0.00 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
43 targeting TMED9, 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-5193 | 100.00 | 67.26 | 1744 |
| HSA-MIR-450A-1-3P | 100.00 | 69.33 | 1837 |
| HSA-MIR-188-3P | 100.00 | 68.76 | 1240 |
| HSA-MIR-3646 | 100.00 | 73.56 | 5283 |
| HSA-MIR-5688 | 99.96 | 73.23 | 4504 |
| HSA-MIR-495-3P | 99.96 | 72.81 | 4197 |
| HSA-MIR-141-3P | 99.94 | 72.79 | 2421 |
| HSA-MIR-200A-3P | 99.94 | 72.68 | 2420 |
| HSA-MIR-7-1-3P | 99.91 | 71.53 | 4384 |
| HSA-MIR-7-2-3P | 99.91 | 71.40 | 4394 |
| HSA-MIR-9902 | 99.89 | 69.15 | 2250 |
| HSA-MIR-3065-3P | 99.87 | 70.25 | 1407 |
| HSA-MIR-6739-5P | 99.80 | 67.87 | 2806 |
| HSA-MIR-4668-5P | 99.79 | 70.58 | 3782 |
| HSA-MIR-4319 | 99.76 | 69.83 | 2586 |
| HSA-MIR-6733-5P | 99.74 | 67.94 | 2759 |
| HSA-MIR-6779-5P | 99.70 | 65.76 | 2363 |
| HSA-MIR-7-5P | 99.67 | 70.53 | 1809 |
| HSA-MIR-670-5P | 99.67 | 69.94 | 1565 |
| HSA-MIR-545-5P | 99.66 | 70.18 | 2308 |
| HSA-MIR-6887-3P | 99.66 | 67.83 | 1778 |
| HSA-MIR-378A-5P | 99.65 | 66.33 | 1311 |
| HSA-MIR-802 | 99.61 | 67.70 | 1254 |
| HSA-MIR-3153 | 99.55 | 67.59 | 2337 |
| HSA-MIR-7106-5P | 99.53 | 67.47 | 3574 |
| HSA-MIR-584-3P | 99.35 | 67.69 | 1082 |
| HSA-MIR-361-3P | 99.19 | 66.45 | 1381 |
| HSA-MIR-4478 | 99.07 | 65.16 | 2320 |
| HSA-MIR-194-5P | 99.01 | 69.65 | 1465 |
| HSA-MIR-3619-5P | 99.00 | 68.87 | 2308 |
Literature-anchored findings (GeneRIF, showing 3)
- TMED9/TMED3 antagonism impacts WNT-TCF and GLI signaling, where TMED9 primacy over TMED3 leads to the establishment of a positive feedback loop together with CNIH4, TGFalpha, and GLI1 that enhances metastases (PMID:31253868)
- High expression of transmembrane P24 trafficking protein 9 predicts poor prognosis in breast carcinoma. (PMID:34635011)
- Molecular basis of TMED9 oligomerization and entrapment of misfolded protein cargo in the early secretory pathway. (PMID:39303030)
Cross-species orthologs
5 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | tmed9 | ENSDARG00000004261 |
| mus_musculus | Tmed9 | ENSMUSG00000058569 |
| rattus_norvegicus | Tmed9 | ENSRNOG00000021882 |
| drosophila_melanogaster | p24-1 | FBGN0030341 |
| caenorhabditis_elegans | WBGENE00013360 |
Paralogs (8): TMED2 (ENSG00000086598), TMED1 (ENSG00000099203), TMED5 (ENSG00000117500), TMED7 (ENSG00000134970), TMED6 (ENSG00000157315), TMED4 (ENSG00000158604), TMED3 (ENSG00000166557), TMED10 (ENSG00000170348)
Protein
Protein identifiers
Transmembrane emp24 domain-containing protein 9 — Q9BVK6 (reviewed: Q9BVK6)
Alternative names: GMP25, Glycoprotein 25L2, p24 family protein alpha-2, p25
All UniProt accessions (1): Q9BVK6
UniProt curated annotations — full annotation on UniProt →
Function. Appears to be involved in vesicular protein trafficking, mainly in the early secretory pathway. In COPI vesicle-mediated retrograde transport involved in the coatomer recruitment to membranes of the early secretory pathway. Increases coatomer-dependent activity of ARFGAP2. Thought to play a crucial role in the specific retention of p24 complexes in cis-Golgi membranes; specifically contributes to the coupled localization of TMED2 and TMED10 in the cis-Golgi network. May be involved in organization of intracellular membranes, such as of the ER-Golgi intermediate compartment and the Golgi apparatus. Involved in ER localization of PTPN2 isoform PTPB.
Subunit / interactions. Monomer and homodimer in endoplasmic reticulum. Predominantly monomeric and to lesser extent homodimeric in endoplasmic reticulum-Golgi intermediate compartment and cis-Golgi network. Probably oligomerizes with other members of the EMP24/GP25L family such as TMED2, TMED7 and TMED10. Interacts with TMED5. Interacts (via C-terminus) with COPG1; the interaction involves dimeric TMED9. Interacts with PTPN2 and SPAST. Interacts with STX17; the interaction is direct.
Subcellular location. Endoplasmic reticulum membrane. Golgi apparatus. cis-Golgi network membrane. Endoplasmic reticulum-Golgi intermediate compartment membrane. trans-Golgi network membrane.
Post-translational modifications. N-linked glycosylated containing high mannose.
Similarity. Belongs to the EMP24/GP25L family.
RefSeq proteins (1): NP_059980* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR009038 | GOLD_dom | Domain |
| IPR015720 | Emp24-like | Family |
Pfam: PF01105
UniProt features (19 total): sequence conflict 5, topological domain 2, short sequence motif 2, signal peptide 1, chain 1, modified residue 1, glycosylation site 1, sequence variant 1, mutagenesis site 1, transmembrane region 1, domain 1, region of interest 1, coiled-coil region 1
Structure
Experimental structures (PDB)
2 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 9CJK | ELECTRON MICROSCOPY | 3.7 |
| 9CJL | ELECTRON MICROSCOPY | 5.5 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q9BVK6-F1 | 84.57 | 0.48 |
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): 160
Glycosylation sites (1): 125
Mutagenesis-validated functional residues (1):
| Position | Phenotype |
|---|---|
| 232–233 | localization to plasma membrane and endocytosis. |
Function
Pathways and Gene Ontology
Reactome pathways
2 pathways
| ID | Pathway |
|---|---|
| R-HSA-6807878 | COPI-mediated anterograde transport |
| R-HSA-6811434 | COPI-dependent Golgi-to-ER retrograde traffic |
MSigDB gene sets: 182 (showing top):
TGGTGCT_MIR29A_MIR29B_MIR29C, GGTGTGT_MIR329, GOBP_VESICLE_LOCALIZATION, GOBP_INTRACELLULAR_PROTEIN_TRANSPORT, GOBP_VESICLE_ORGANIZATION, MORF_HDAC1, GOBP_VESICLE_TARGETING, GOBP_VESICLE_MEDIATED_TRANSPORT, GHO_ATF5_TARGETS_DN, RIZKI_TUMOR_INVASIVENESS_3D_DN, REACTOME_MEMBRANE_TRAFFICKING, GOBP_POSITIVE_REGULATION_OF_ORGANELLE_ORGANIZATION, AGTCTTA_MIR499, GOBP_ENDOPLASMIC_RETICULUM_TO_GOLGI_VESICLE_MEDIATED_TRANSPORT, MARTINEZ_RB1_TARGETS_DN
GO Biological Process (6): intracellular protein transport (GO:0006886), endoplasmic reticulum to Golgi vesicle-mediated transport (GO:0006888), Golgi organization (GO:0007030), positive regulation of organelle organization (GO:0010638), COPI coating of Golgi vesicle (GO:0048205), protein transport (GO:0015031)
GO Molecular Function (2): syntaxin binding (GO:0019905), protein binding (GO:0005515)
GO Cellular Component (12): Golgi membrane (GO:0000139), endoplasmic reticulum (GO:0005783), endoplasmic reticulum membrane (GO:0005789), endoplasmic reticulum-Golgi intermediate compartment (GO:0005793), Golgi apparatus (GO:0005794), synaptic vesicle (GO:0008021), transport vesicle (GO:0030133), COPII-coated ER to Golgi transport vesicle (GO:0030134), trans-Golgi network transport vesicle (GO:0030140), endoplasmic reticulum-Golgi intermediate compartment membrane (GO:0033116), extracellular exosome (GO:0070062), membrane (GO:0016020)
Reactome top-level categories
Rollup of top-2 pathways:
| Category | Pathways |
|---|---|
| ER to Golgi Anterograde Transport | 1 |
| Golgi-to-ER retrograde transport | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cytoplasm | 4 |
| endomembrane system | 3 |
| intracellular membrane-bounded organelle | 3 |
| intracellular protein localization | 2 |
| intracellular transport | 2 |
| organelle organization | 2 |
| bounding membrane of organelle | 2 |
| protein transport | 1 |
| intercellular transport | 1 |
| Golgi vesicle transport | 1 |
| endomembrane system organization | 1 |
| regulation of organelle organization | 1 |
| positive regulation of cellular component organization | 1 |
| COPI-coated vesicle budding | 1 |
| Golgi transport vesicle coating | 1 |
| transport | 1 |
| establishment of protein localization | 1 |
| SNARE binding | 1 |
| binding | 1 |
| Golgi apparatus | 1 |
| organelle membrane | 1 |
| nuclear outer membrane-endoplasmic reticulum membrane network | 1 |
| endoplasmic reticulum subcompartment | 1 |
| exocytic vesicle | 1 |
| presynapse | 1 |
| cytoplasmic vesicle | 1 |
| coated vesicle | 1 |
| Golgi-associated vesicle | 1 |
| transport vesicle | 1 |
| clathrin-coated vesicle | 1 |
| endoplasmic reticulum-Golgi intermediate compartment | 1 |
| extracellular vesicle | 1 |
| cellular anatomical structure | 1 |
Protein interactions and networks
STRING
1134 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| TMED9 | TMED5 | Q9Y3A6 | 944 |
| TMED9 | TMED10 | P49755 | 795 |
| TMED9 | TMED1 | Q13445 | 678 |
| TMED9 | TMED2 | Q15363 | 668 |
| TMED9 | PREB | Q9HCU5 | 553 |
| TMED9 | TMED6 | Q8WW62 | 542 |
| TMED9 | CNIH4 | Q9P003 | 492 |
| TMED9 | SURF4 | O15260 | 449 |
| TMED9 | FAM193B | Q96PV7 | 446 |
| TMED9 | ACBD3 | Q9H3P7 | 422 |
| TMED9 | PRR7 | Q8TB68 | 410 |
| TMED9 | B4GALT7 | Q9UBV7 | 402 |
| TMED9 | SEC22B | O75396 | 395 |
| TMED9 | CASR | P41180 | 386 |
| TMED9 | SMIM13 | P0DJ93 | 365 |
IntAct
136 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| TMED2 | TMED10 | psi-mi:“MI:0914”(association) | 0.910 |
| TMED10 | TMED2 | psi-mi:“MI:0914”(association) | 0.910 |
| TMED7 | TMED10 | psi-mi:“MI:0914”(association) | 0.730 |
| TMED9 | TMED10 | psi-mi:“MI:0914”(association) | 0.730 |
| CFTR | ESYT2 | psi-mi:“MI:2364”(proximity) | 0.710 |
| SURF4 | TMED10 | psi-mi:“MI:0915”(physical association) | 0.660 |
| CHST8 | CANX | psi-mi:“MI:0914”(association) | 0.640 |
| ITM2A | TMED9 | psi-mi:“MI:0915”(physical association) | 0.560 |
| TMED9 | TMEM60 | psi-mi:“MI:0915”(physical association) | 0.560 |
| AQP9 | TMED9 | psi-mi:“MI:0915”(physical association) | 0.560 |
| PLPPR2 | TMED9 | psi-mi:“MI:0915”(physical association) | 0.560 |
| SEC22A | TMED9 | psi-mi:“MI:0915”(physical association) | 0.560 |
| TMED9 | PTPN2 | psi-mi:“MI:0915”(physical association) | 0.540 |
| PTPN2 | TMED9 | psi-mi:“MI:0915”(physical association) | 0.540 |
| TMED9 | PTPN2 | psi-mi:“MI:0403”(colocalization) | 0.540 |
| FGF3 | GTPBP10 | psi-mi:“MI:0914”(association) | 0.530 |
| LIPG | NRP1 | psi-mi:“MI:0914”(association) | 0.530 |
| SPPL2B | UQCRQ | psi-mi:“MI:0914”(association) | 0.530 |
| TMED9 | COPB2 | psi-mi:“MI:0914”(association) | 0.530 |
| rev | TMED10 | psi-mi:“MI:0914”(association) | 0.460 |
| TMED9 | TMED9 | psi-mi:“MI:0915”(physical association) | 0.400 |
| TK2 | psi-mi:“MI:0915”(physical association) | 0.400 | |
| GPC1 | SNAP23 | psi-mi:“MI:0915”(physical association) | 0.400 |
| GPC1 | GANAB | psi-mi:“MI:0915”(physical association) | 0.400 |
| CKMT2 | TMED9 | psi-mi:“MI:0915”(physical association) | 0.370 |
BioGRID (216): TMED9 (Affinity Capture-RNA), TMED9 (Affinity Capture-RNA), TMED9 (Affinity Capture-MS), TMED9 (Affinity Capture-MS), TMED9 (Affinity Capture-MS), TMED9 (Affinity Capture-MS), TMED9 (Co-fractionation), TMED9 (Co-fractionation), TMED9 (Co-fractionation), TMED9 (Co-fractionation), TMED9 (Proximity Label-MS), TMED9 (Proximity Label-MS), TMED9 (Affinity Capture-MS), TMED9 (Affinity Capture-MS), TMED9 (Affinity Capture-MS)
ESM2 similar proteins: A0AQ71, B3LVB0, B3P6T8, B4GE47, B4HJV5, B4JYU5, B4K4G5, B4KB41, B4LYB8, B4MGF8, B4NIY1, B4NKL0, B4PUZ3, B4PVC6, B4QWH9, F4J4Y0, O13770, O13946, O14324, O35587, O81045, P27869, P32803, P38819, P49755, P53198, Q05359, Q12403, Q12450, Q28735, Q3T133, Q4P958, Q54BN0, Q5E971, Q5I0E7, Q5RE32, Q63584, Q6C503, Q759T8, Q8GYG1
Diamond homologs: B3MTS8, B3NZM5, B4GMC3, B4HJV5, B4JG34, B4KB41, B4LYB8, B4NKL0, B4PVC6, B4QWH9, O14324, O35587, P0CN72, P0CN73, P27869, P49755, P53198, Q28735, Q295B2, Q3T133, Q4WQL0, Q5B5L5, Q5E971, Q5I0E7, Q5RE32, Q63584, Q6BTC2, Q6CWW7, Q759T8, Q769F9, Q7Z7H5, Q8R1V4, Q90515, Q99KF1, Q9BVK6, Q9D1D4, Q9D2R4, Q9I7K5, Q9P7I9, P38819
SIGNOR signaling
0 interactions.
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 135 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.
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| endoplasmic reticulum to Golgi vesicle-mediated transport | 10 | 11.6× | 2e-05 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
25 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 20 |
| Likely benign | 1 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
408 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 5:177592355:G:GT | donor_gain | 1.0000 |
| 5:177592380:G:GT | donor_gain | 1.0000 |
| 5:177592572:AAG:A | acceptor_gain | 1.0000 |
| 5:177592573:A:G | acceptor_gain | 1.0000 |
| 5:177592673:AAGGT:A | donor_loss | 1.0000 |
| 5:177592675:GGTG:G | donor_loss | 1.0000 |
| 5:177592676:G:A | donor_loss | 1.0000 |
| 5:177592677:T:A | donor_loss | 1.0000 |
| 5:177593647:CA:C | acceptor_loss | 1.0000 |
| 5:177593648:A:AC | acceptor_loss | 1.0000 |
| 5:177593648:A:AG | acceptor_gain | 1.0000 |
| 5:177593649:G:GA | acceptor_gain | 1.0000 |
| 5:177593649:GGTC:G | acceptor_gain | 1.0000 |
| 5:177593776:G:A | donor_loss | 1.0000 |
| 5:177593777:T:TC | donor_loss | 1.0000 |
| 5:177594126:T:TA | acceptor_gain | 1.0000 |
| 5:177594130:T:TA | acceptor_gain | 1.0000 |
| 5:177594134:CTCA:C | acceptor_loss | 1.0000 |
| 5:177594136:CA:C | acceptor_loss | 1.0000 |
| 5:177594137:A:AC | acceptor_loss | 1.0000 |
| 5:177594137:A:AG | acceptor_gain | 1.0000 |
| 5:177594138:G:GG | acceptor_gain | 1.0000 |
| 5:177594138:GA:G | acceptor_gain | 1.0000 |
| 5:177594138:GAGA:G | acceptor_gain | 1.0000 |
| 5:177594281:AGCGG:A | donor_gain | 1.0000 |
| 5:177594282:GCGG:G | donor_gain | 1.0000 |
| 5:177594282:GCGGG:G | donor_gain | 1.0000 |
| 5:177594283:CGG:C | donor_gain | 1.0000 |
| 5:177594284:GG:G | donor_gain | 1.0000 |
| 5:177594284:GGG:G | donor_gain | 1.0000 |
AlphaMissense
1522 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 5:177593699:C:T | S112F | 1.000 |
| 5:177594239:T:C | L171P | 1.000 |
| 5:177595286:G:C | R193P | 1.000 |
| 5:177592359:T:A | C49S | 0.999 |
| 5:177592359:T:C | C49R | 0.999 |
| 5:177592360:G:C | C49S | 0.999 |
| 5:177592363:T:C | F50S | 0.999 |
| 5:177592363:T:G | F50C | 0.999 |
| 5:177592575:G:A | G62E | 0.999 |
| 5:177593680:G:C | G106R | 0.999 |
| 5:177593687:T:C | F108S | 0.999 |
| 5:177593692:T:C | F110L | 0.999 |
| 5:177593693:T:C | F110S | 0.999 |
| 5:177593693:T:G | F110C | 0.999 |
| 5:177593694:C:A | F110L | 0.999 |
| 5:177593694:C:G | F110L | 0.999 |
| 5:177593699:C:A | S112Y | 0.999 |
| 5:177593710:G:T | G116C | 0.999 |
| 5:177593711:G:T | G116V | 0.999 |
| 5:177593716:C:G | H118D | 0.999 |
| 5:177593723:T:A | I120N | 0.999 |
| 5:177593723:T:C | I120T | 0.999 |
| 5:177593723:T:G | I120S | 0.999 |
| 5:177593725:T:A | C121S | 0.999 |
| 5:177593725:T:C | C121R | 0.999 |
| 5:177593726:G:A | C121Y | 0.999 |
| 5:177593726:G:C | C121S | 0.999 |
| 5:177593729:T:C | L122P | 0.999 |
| 5:177594149:T:C | L141P | 0.999 |
| 5:177594163:G:T | G146C | 0.999 |
dbSNP variants (sampled 300 via entrez): RS1000707620 (5:177597590 T>G), RS1000845826 (5:177594775 T>C), RS1001240543 (5:177597650 A>G,T), RS1001447061 (5:177593284 T>C), RS1001804361 (5:177590561 C>G,T), RS1002008906 (5:177592514 G>A,T), RS1002068386 (5:177591049 A>T), RS1002395408 (5:177592157 G>A), RS1003258373 (5:177596796 G>C), RS1003491696 (5:177595992 C>A), RS1003585291 (5:177595611 T>C), RS1004499054 (5:177594409 G>A,C,T), RS1005137484 (5:177591502 A>C), RS1005271770 (5:177591183 T>C), RS1006326278 (5:177592557 C>A,T)
Disease associations
OMIM: gene MIM:620436 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
4 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST001762_65 | Obesity-related traits | 8.000000e-06 |
| GCST005956_15 | Waist-to-hip ratio adjusted for BMI | 1.000000e-07 |
| GCST005957_13 | Waist-to-hip ratio adjusted for BMI (age <50) | 3.000000e-07 |
| GCST005962_42 | Waist-to-hip ratio adjusted for BMI x sex x age interaction (4df test) | 1.000000e-08 |
EFO canonical traits (3, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0007788 | BMI-adjusted waist-hip ratio |
| EFO:0008007 | age at assessment |
| EFO:0008343 | sex interaction measurement |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: yes
ChEMBL targets (1): CHEMBL6066330 (SINGLE PROTEIN)
PharmGKB: 1 entry (VIP=true, CPIC=false)
ChEMBL bioactivities
2 potent at pChembl≥5 of 4 total, top 2 by pChembl (potency: 10 = 0.1 nM, 6 = 1 µM).
| pChembl | Type | Value | Unit | Molecule |
|---|---|---|---|---|
| 8.40 | Kd | 3.956 | nM | CHEMBL5653589 |
| 8.40 | ED50 | 3.956 | nM | CHEMBL5653589 |
PubChem BioAssay actives
1 with measured affinity, of 4 total; 1 most potent distinct compounds. Largely complementary to BindingDB; screening values are coarse (µM, 4 dp), so sub-nM hits tie at the floor.
| Compound | Assay | Type | Value | Unit |
|---|---|---|---|---|
| 4-methyl-3-[(2-methyl-6-pyridin-3-ylpyrazolo[3,4-d]pyrimidin-4-yl)amino]-N-[3-(trifluoromethyl)phenyl]benzamide | 2149604: Binding affinity to human TMED9 incubated for 45 mins by Kinobead based pull down assay | kd | 0.0040 | uM |
CTD chemical–gene interactions
35 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| bisphenol A | affects expression, increases expression, affects cotreatment | 3 |
| Tobacco Smoke Pollution | affects expression, increases expression | 2 |
| Tunicamycin | increases expression | 2 |
| Cyclosporine | increases expression | 2 |
| Cadmium Chloride | increases abundance, increases expression | 2 |
| Thapsigargin | increases expression | 2 |
| bisphenol F | increases expression | 1 |
| lead acetate | increases expression | 1 |
| sodium arsenite | increases expression | 1 |
| di-n-butylphosphoric acid | affects expression | 1 |
| chloropicrin | decreases expression | 1 |
| ICG 001 | increases expression | 1 |
| bisphenol B | increases expression | 1 |
| jinfukang | increases expression | 1 |
| bisphenol AF | 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 | increases expression | 1 |
| Air Pollutants | decreases expression, increases abundance | 1 |
| Aspirin | increases expression | 1 |
| Atrazine | increases expression | 1 |
| Benzo(a)pyrene | decreases methylation | 1 |
| Cadmium | increases expression, increases abundance | 1 |
| Cytarabine | decreases expression | 1 |
| Dexamethasone | affects cotreatment, increases expression | 1 |
| Doxorubicin | increases expression | 1 |
| Indomethacin | affects cotreatment, increases expression | 1 |
| Ivermectin | decreases expression | 1 |
| Silicon Dioxide | increases expression | 1 |
| Smoke | decreases expression | 1 |
| Dihydrotestosterone | increases expression | 1 |
| Sulindac | 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 |
|---|---|---|---|
| CHEMBL5652646 | Binding | Binding affinity to human TMED9 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 |
Cellosaurus cell lines
4 cell lines: 3 cancer cell line, 1 transformed cell line
First 10 cell lines (id-ordered, not curated):
| Cellosaurus | Name | Category | Sex |
|---|---|---|---|
| CVCL_B3JF | Abcam HEK293T TMED9 KO | Transformed cell line | Female |
| CVCL_TS74 | HAP1 TMED9 (-) 1 | Cancer cell line | Male |
| CVCL_XU35 | HAP1 TMED9 (-) 2 | Cancer cell line | Male |
| CVCL_XU36 | HAP1 TMED9 (-) 3 | Cancer cell line | Male |
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.