TMED7
gene geneOn this page
Also known as CGI-109FLJ90481p24gamma3p24g3
Summary
TMED7 (transmembrane p24 trafficking protein 7, HGNC:24253) is a protein-coding gene on chromosome 5q22.3, encoding Transmembrane emp24 domain-containing protein 7 (Q9Y3B3). Potential role in vesicular protein trafficking, mainly in the early secretory pathway.
Predicted to be involved in Golgi organization; endoplasmic reticulum to Golgi vesicle-mediated transport; and intracellular protein transport. Located in Golgi apparatus; endoplasmic reticulum; and endoplasmic reticulum-Golgi intermediate compartment.
Source: NCBI Gene 51014 — RefSeq curated summary.
At a glance
- Gene–disease (curated): retinal disorder (Limited, GenCC)
- GWAS associations: 4
- Clinical variants (ClinVar): 58 total
- Druggable target: yes
- MANE Select transcript:
NM_181836
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:24253 |
| Approved symbol | TMED7 |
| Name | transmembrane p24 trafficking protein 7 |
| Location | 5q22.3 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | CGI-109, FLJ90481, p24gamma3, p24g3 |
| Ensembl gene | ENSG00000134970 |
| Ensembl biotype | protein_coding |
| OMIM | 619990 |
| Entrez | 51014 |
Gene structure
Transcript identifiers
Ensembl transcripts: 9 — 8 protein_coding, 1 protein_coding_CDS_not_defined
ENST00000456936, ENST00000503010, ENST00000508420, ENST00000878959, ENST00000878960, ENST00000878961, ENST00000878962, ENST00000923920, ENST00000923921
RefSeq mRNA: 1 — MANE Select: NM_181836
NM_181836
CCDS: CCDS4120
Canonical transcript exons
ENST00000456936 — 3 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001756050 | 115613210 | 115616445 |
| ENSE00002252373 | 115625601 | 115626036 |
| ENSE00003515673 | 115620435 | 115620680 |
Expression profiles
Bgee: expression breadth ubiquitous, 291 present calls, max score 97.76.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 3.6221 / max 54.2742, expressed in 1571 samples.
FANTOM5 promoters (6 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 63020 | 80.5731 | 1821 |
| 63021 | 2.9650 | 1419 |
| 63018 | 1.6400 | 1044 |
| 63023 | 0.9405 | 544 |
| 203660 | 0.7098 | 477 |
| 63017 | 0.3319 | 142 |
Top tissues by expression
294 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| choroid plexus epithelium | UBERON:0003911 | 97.76 | gold quality |
| islet of Langerhans | UBERON:0000006 | 97.24 | gold quality |
| calcaneal tendon | UBERON:0003701 | 97.13 | gold quality |
| corpus epididymis | UBERON:0004359 | 97.06 | gold quality |
| seminal vesicle | UBERON:0000998 | 96.83 | gold quality |
| germinal epithelium of ovary | UBERON:0001304 | 96.61 | gold quality |
| stromal cell of endometrium | CL:0002255 | 96.55 | gold quality |
| palpebral conjunctiva | UBERON:0001812 | 96.46 | gold quality |
| adrenal tissue | UBERON:0018303 | 96.36 | gold quality |
| jejunal mucosa | UBERON:0000399 | 95.59 | gold quality |
| caput epididymis | UBERON:0004358 | 95.30 | gold quality |
| cauda epididymis | UBERON:0004360 | 95.14 | gold quality |
| rectum | UBERON:0001052 | 95.03 | gold quality |
| epithelium of nasopharynx | UBERON:0001951 | 94.97 | gold quality |
| heart right ventricle | UBERON:0002080 | 94.87 | gold quality |
| lower lobe of lung | UBERON:0008949 | 94.86 | gold quality |
| jejunum | UBERON:0002115 | 94.72 | gold quality |
| endometrium | UBERON:0001295 | 94.48 | gold quality |
| cartilage tissue | UBERON:0002418 | 94.48 | gold quality |
| pancreas | UBERON:0001264 | 94.38 | gold quality |
| endothelial cell | CL:0000115 | 94.20 | gold quality |
| descending thoracic aorta | UBERON:0002345 | 94.16 | gold quality |
| monocyte | CL:0000576 | 94.07 | gold quality |
| mononuclear cell | CL:0000842 | 94.01 | gold quality |
| thoracic aorta | UBERON:0001515 | 93.96 | gold quality |
| mucosa of sigmoid colon | UBERON:0004993 | 93.94 | gold quality |
| ascending aorta | UBERON:0001496 | 93.93 | gold quality |
| nasal cavity mucosa | UBERON:0001826 | 93.93 | gold quality |
| pericardium | UBERON:0002407 | 93.86 | gold quality |
| mucosa of paranasal sinus | UBERON:0005030 | 93.86 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 11.98 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
221 targeting TMED7, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):
| miRNA | Max score | Avg score | miRNA target_count |
|---|---|---|---|
| HSA-MIR-3646 | 100.00 | 73.56 | 5283 |
| HSA-MIR-5011-5P | 100.00 | 83.46 | 5820 |
| HSA-MIR-190A-3P | 100.00 | 80.35 | 5520 |
| HSA-LET-7A-3P | 100.00 | 74.03 | 3932 |
| HSA-LET-7B-3P | 100.00 | 74.08 | 3913 |
| HSA-LET-7F-1-3P | 100.00 | 74.02 | 3928 |
| HSA-MIR-98-3P | 100.00 | 74.08 | 3907 |
| HSA-MIR-3163 | 100.00 | 77.23 | 8605 |
| HSA-MIR-450A-1-3P | 100.00 | 69.33 | 1837 |
| HSA-MIR-1277-5P | 100.00 | 73.95 | 5056 |
| HSA-MIR-12118 | 100.00 | 65.88 | 1270 |
| HSA-MIR-6740-5P | 100.00 | 65.64 | 932 |
| HSA-MIR-3613-3P | 100.00 | 76.36 | 7965 |
| HSA-MIR-186-5P | 99.99 | 70.83 | 3707 |
| HSA-MIR-4282 | 99.99 | 75.36 | 6408 |
| HSA-MIR-548C-3P | 99.99 | 74.01 | 7587 |
| HSA-MIR-3662 | 99.99 | 73.82 | 5684 |
| HSA-MIR-520D-5P | 99.98 | 73.34 | 4883 |
| HSA-MIR-524-5P | 99.98 | 73.43 | 4882 |
| HSA-MIR-4775 | 99.98 | 75.00 | 6394 |
| HSA-MIR-548P | 99.98 | 72.25 | 3784 |
| HSA-MIR-3692-3P | 99.98 | 70.27 | 2139 |
| HSA-MIR-6891-5P | 99.98 | 66.53 | 1372 |
| HSA-MIR-3173-3P | 99.98 | 66.49 | 1217 |
| HSA-MIR-548N | 99.98 | 71.94 | 4170 |
| HSA-MIR-12136 | 99.98 | 72.81 | 5713 |
| HSA-MIR-607 | 99.97 | 73.62 | 5593 |
| HSA-MIR-302C-5P | 99.97 | 72.56 | 3642 |
| HSA-MIR-548AN | 99.97 | 70.91 | 2817 |
| HSA-MIR-570-3P | 99.96 | 72.41 | 4910 |
Literature-anchored findings (GeneRIF, showing 2)
- TMED7 is essential for TAG-mediated disruption of the TRAM/TRIF complex and the degradation of toll-like receptor 4 (PMID:22426228)
- TMED7 is required to initiate and mediate the delivery of TLR4 to the plasma membrane (PMID:25074978)
Cross-species orthologs
4 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | tmed7 | ENSDARG00000046022 |
| mus_musculus | Tmed7 | ENSMUSG00000033184 |
| drosophila_melanogaster | p24-1 | FBGN0030341 |
| caenorhabditis_elegans | tmed-3 | WBGENE00019003 |
Paralogs (8): TMED2 (ENSG00000086598), TMED1 (ENSG00000099203), TMED5 (ENSG00000117500), TMED6 (ENSG00000157315), TMED4 (ENSG00000158604), TMED3 (ENSG00000166557), TMED10 (ENSG00000170348), TMED9 (ENSG00000184840)
Protein
Protein identifiers
Transmembrane emp24 domain-containing protein 7 — Q9Y3B3 (reviewed: Q9Y3B3)
Alternative names: p24 family protein gamma-3, p27
All UniProt accessions (2): G3V2Y2, Q9Y3B3
UniProt curated annotations — full annotation on UniProt →
Function. Potential role in vesicular protein trafficking, mainly in the early secretory pathway. Appears to play a role in the biosynthesis of secreted cargo including processing and post-translational modifications.
Subunit / interactions. Predominantly monomeric and to lesser extent homodimeric in endoplasmic reticulum, endoplasmic reticulum-Golgi intermediate compartment and cis-Golgi network. Oligomerizes with other members of the EMP24/GP25L family such as TMED2, TMED9 and TMED10. Interacts (via C-terminus) with COPG1; the interaction involves dimeric TMED7.
Subcellular location. Endoplasmic reticulum membrane. Golgi apparatus. cis-Golgi network membrane. Endoplasmic reticulum-Golgi intermediate compartment membrane. Cytoplasmic vesicle. COPI-coated vesicle membrane. COPII-coated vesicle membrane.
Post-translational modifications. N-linked glycosylated in complex form containing terminal sialic acid.
Similarity. Belongs to the EMP24/GP25L family.
Isoforms (2)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q9Y3B3-1 | 1 | yes |
| Q9Y3B3-2 | 2 |
RefSeq proteins (1): NP_861974* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR009038 | GOLD_dom | Domain |
| IPR015720 | Emp24-like | Family |
| IPR036598 | GOLD_dom_sf | Homologous_superfamily |
Pfam: PF01105
UniProt features (15 total): sequence conflict 5, topological domain 2, short sequence motif 2, signal peptide 1, chain 1, transmembrane region 1, domain 1, glycosylation site 1, splice variant 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q9Y3B3-F1 | 84.82 | 0.67 |
Functional residue map
Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.
Glycosylation sites (1): 103
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: 242 (showing top):
GSE45365_NK_CELL_VS_CD8A_DC_MCMV_INFECTION_DN, BORCZUK_MALIGNANT_MESOTHELIOMA_UP, TAATAAT_MIR126, GOBP_INTRACELLULAR_PROTEIN_TRANSPORT, GOBP_VESICLE_MEDIATED_TRANSPORT, REACTOME_MEMBRANE_TRAFFICKING, GOLDRATH_ANTIGEN_RESPONSE, GOBP_ENDOPLASMIC_RETICULUM_TO_GOLGI_VESICLE_MEDIATED_TRANSPORT, GOCC_COATED_VESICLE, DAZARD_RESPONSE_TO_UV_SCC_UP, ATTCTTT_MIR186, GOCC_GOLGI_ASSOCIATED_VESICLE, GOCC_VESICLE_COAT, GOBP_ENDOMEMBRANE_SYSTEM_ORGANIZATION, TAATGTG_MIR323
GO Biological Process (4): intracellular protein transport (GO:0006886), endoplasmic reticulum to Golgi vesicle-mediated transport (GO:0006888), Golgi organization (GO:0007030), protein transport (GO:0015031)
GO Molecular Function (1): protein binding (GO:0005515)
GO Cellular Component (14): Golgi membrane (GO:0000139), endoplasmic reticulum (GO:0005783), endoplasmic reticulum membrane (GO:0005789), endoplasmic reticulum-Golgi intermediate compartment (GO:0005793), Golgi apparatus (GO:0005794), COPI vesicle coat (GO:0030126), COPII vesicle coat (GO:0030127), transport vesicle (GO:0030133), COPII-coated ER to Golgi transport vesicle (GO:0030134), endoplasmic reticulum-Golgi intermediate compartment membrane (GO:0033116), ER to Golgi transport vesicle membrane (GO:0012507), membrane (GO:0016020), COPI-coated vesicle membrane (GO:0030663), cytoplasmic vesicle (GO:0031410)
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 | 5 |
| endomembrane system | 3 |
| intracellular membrane-bounded organelle | 3 |
| intracellular protein localization | 2 |
| intracellular transport | 2 |
| Golgi apparatus | 2 |
| bounding membrane of organelle | 2 |
| vesicle coat | 2 |
| coated vesicle membrane | 2 |
| protein transport | 1 |
| intercellular transport | 1 |
| Golgi vesicle transport | 1 |
| organelle organization | 1 |
| endomembrane system organization | 1 |
| transport | 1 |
| establishment of protein localization | 1 |
| binding | 1 |
| organelle membrane | 1 |
| nuclear outer membrane-endoplasmic reticulum membrane network | 1 |
| endoplasmic reticulum subcompartment | 1 |
| COPI-coated vesicle membrane | 1 |
| ER to Golgi transport vesicle membrane | 1 |
| cytoplasmic vesicle | 1 |
| coated vesicle | 1 |
| endoplasmic reticulum-Golgi intermediate compartment | 1 |
| COPII-coated ER to Golgi transport vesicle | 1 |
| transport vesicle membrane | 1 |
| cellular anatomical structure | 1 |
| COPI-coated vesicle | 1 |
| Golgi-associated vesicle membrane | 1 |
| intracellular vesicle | 1 |
Protein interactions and networks
STRING
1692 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| TMED7 | TMED6 | Q8WW62 | 551 |
| TMED7 | TM9SF3 | Q9HD45 | 448 |
| TMED7 | PIGG | Q5H8A4 | 429 |
| TMED7 | TIRAP | P58753 | 409 |
| TMED7 | ATP2B2 | Q01814 | 387 |
| TMED7 | ATP2A1 | O14983 | 386 |
| TMED7 | TMED10 | P49755 | 382 |
| TMED7 | TMEM63A | O94886 | 381 |
| TMED7 | SSMEM1 | Q8WWF3 | 375 |
| TMED7 | PHF7 | Q9BWX1 | 373 |
| TMED7 | UNC80 | Q8N2C7 | 364 |
| TMED7 | GPR83 | Q9NYM4 | 353 |
| TMED7 | ATP2B3 | Q16720 | 353 |
| TMED7 | TMED9 | Q9BVK6 | 353 |
| TMED7 | KCNQ5 | Q9NR82 | 353 |
| TMED7 | ATP2A3 | Q93084 | 353 |
| TMED7 | CA6 | P23280 | 353 |
| TMED7 | SH3GL2 | Q99962 | 353 |
IntAct
75 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| TMED10 | TMED2 | psi-mi:“MI:0914”(association) | 0.910 |
| GORASP2 | GOLGA2 | psi-mi:“MI:0914”(association) | 0.880 |
| TMED10 | TMED1 | psi-mi:“MI:0914”(association) | 0.730 |
| TMED7 | TMED10 | psi-mi:“MI:0914”(association) | 0.730 |
| TMED9 | TMED10 | psi-mi:“MI:0914”(association) | 0.730 |
| SURF4 | TMED10 | psi-mi:“MI:0915”(physical association) | 0.660 |
| TBP | TAF7 | psi-mi:“MI:0914”(association) | 0.640 |
| TMED2 | ATP9A | psi-mi:“MI:0914”(association) | 0.640 |
| PA2G4 | TMED7 | psi-mi:“MI:0915”(physical association) | 0.640 |
| ADGRG5 | KLRG2 | psi-mi:“MI:0914”(association) | 0.530 |
| SCN3B | ABCC5 | psi-mi:“MI:0914”(association) | 0.530 |
| FGF9 | PPID | psi-mi:“MI:0914”(association) | 0.530 |
| Gorasp1 | CLIP-170 | psi-mi:“MI:0915”(physical association) | 0.400 |
| TMED7 | TMED7 | psi-mi:“MI:0915”(physical association) | 0.400 |
| TMED7 | SEC23A | psi-mi:“MI:0915”(physical association) | 0.400 |
| FGF16 | TMED7 | psi-mi:“MI:0915”(physical association) | 0.400 |
| TMPRSS3 | TMED7 | psi-mi:“MI:0915”(physical association) | 0.370 |
| Gorasp1 | GOLGA2 | psi-mi:“MI:0914”(association) | 0.350 |
| Tmed10 | TARS3 | psi-mi:“MI:0914”(association) | 0.350 |
| Tmed10 | NDUFS8 | psi-mi:“MI:0914”(association) | 0.350 |
| Tmed2 | psi-mi:“MI:0914”(association) | 0.350 | |
| Uso1 | SLC30A6 | psi-mi:“MI:0914”(association) | 0.350 |
| OCRL | MYO1C | psi-mi:“MI:0914”(association) | 0.350 |
| Cdx1 | TAF7 | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (140): TMED7 (Affinity Capture-MS), TMED7 (Affinity Capture-MS), TMED7 (Affinity Capture-MS), TMED7 (Affinity Capture-MS), TMED7 (Affinity Capture-MS), TMED7 (Affinity Capture-MS), TMED7 (Affinity Capture-MS), TMED7 (Affinity Capture-MS), TMED7 (Affinity Capture-MS), TMED7 (Affinity Capture-MS), TMED7 (Affinity Capture-MS), TMED7 (Affinity Capture-MS), TMED7 (Affinity Capture-MS), TMED7 (Affinity Capture-MS), TMED7 (Affinity Capture-MS)
ESM2 similar proteins: A0JN27, A5PJI5, A5PKD9, B5DFK7, D3Z7P3, D3ZTX0, G3MWR8, G3V9T7, O43681, O54984, O94925, P13264, P16298, P23438, P43308, Q15303, Q15363, Q1LZ53, Q28D01, Q2HJ19, Q4V899, Q4W5Z4, Q5E9E4, Q5JUK3, Q5NVE6, Q5RIC0, Q5TA45, Q5XIJ5, Q5ZIH0, Q5ZJX1, Q61527, Q62956, Q63524, Q6AY25, Q6NVL5, Q6PCB6, Q6ZPR4, Q78IS1, Q7RTP6, Q8CJ19
Diamond homologs: A7SXK3, D3ZTX0, O17528, P32803, P49020, Q15363, Q3T133, Q54BN0, Q5I0E7, Q63524, Q6AY25, Q6BTC2, Q769F9, Q78IS1, Q7Z7H5, Q8R1V4, Q99KF1, Q9P7I9, Q9R0Q3, Q9Y3B3, Q9Y3Q3, O13770, Q13445, Q28BQ6, Q2KJ84, Q2TBK5, Q3V009, Q5BK85, Q5R7E6, Q5R809, Q6AXN3, Q9BVK6, Q9CXE7, Q9Y3A6, P39704, Q12403, Q9S7M9, Q12450, B3MTS8, B3NZM5
SIGNOR signaling
0 interactions.
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 88 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 |
|---|---|---|---|
| COPII-mediated vesicle transport | 6 | 16.3× | 4e-04 |
| COPI-dependent Golgi-to-ER retrograde traffic | 6 | 11.1× | 2e-03 |
| COPI-mediated anterograde transport | 6 | 11.0× | 2e-03 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| Golgi organization | 10 | 18.3× | 1e-07 |
| endoplasmic reticulum to Golgi vesicle-mediated transport | 8 | 14.9× | 1e-05 |
| transmembrane transport | 5 | 11.5× | 4e-03 |
| intracellular protein transport | 11 | 9.8× | 4e-06 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
58 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 32 |
| Likely benign | 23 |
| Benign | 2 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
374 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 5:115620677:TCAC:T | acceptor_gain | 1.0000 |
| 5:115620678:CAC:C | acceptor_gain | 1.0000 |
| 5:115620678:CACC:C | acceptor_gain | 1.0000 |
| 5:115620679:ACCTG:A | acceptor_loss | 1.0000 |
| 5:115620681:C:CA | acceptor_loss | 1.0000 |
| 5:115620681:C:CC | acceptor_gain | 1.0000 |
| 5:115620682:T:A | acceptor_loss | 1.0000 |
| 5:115616443:CAT:C | acceptor_gain | 0.9900 |
| 5:115616444:ATCTG:A | acceptor_loss | 0.9900 |
| 5:115616445:TC:T | acceptor_loss | 0.9900 |
| 5:115620676:ATCAC:A | acceptor_gain | 0.9900 |
| 5:115620679:AC:A | acceptor_gain | 0.9900 |
| 5:115620680:CC:C | acceptor_gain | 0.9900 |
| 5:115620690:A:C | acceptor_gain | 0.9900 |
| 5:115620691:T:C | acceptor_gain | 0.9900 |
| 5:115620691:T:TC | acceptor_gain | 0.9900 |
| 5:115625595:TGATA:T | donor_loss | 0.9900 |
| 5:115625596:GATAC:G | donor_loss | 0.9900 |
| 5:115625597:ATAC:A | donor_loss | 0.9900 |
| 5:115625598:TA:T | donor_loss | 0.9900 |
| 5:115625599:ACCTG:A | donor_loss | 0.9900 |
| 5:115625600:C:CT | donor_loss | 0.9900 |
| 5:115625600:C:G | donor_loss | 0.9900 |
| 5:115616312:A:AC | donor_gain | 0.9800 |
| 5:115616313:C:CC | donor_gain | 0.9800 |
| 5:115616443:CATCT:C | acceptor_loss | 0.9800 |
| 5:115616445:TCTG:T | acceptor_loss | 0.9800 |
| 5:115616446:C:A | acceptor_loss | 0.9800 |
| 5:115616446:C:CC | acceptor_gain | 0.9800 |
| 5:115616447:T:A | acceptor_loss | 0.9800 |
AlphaMissense
1452 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 5:115620513:T:A | K120N | 1.000 |
| 5:115620513:T:G | K120N | 1.000 |
| 5:115620514:T:A | K120I | 1.000 |
| 5:115620531:A:C | F114L | 1.000 |
| 5:115620531:A:T | F114L | 1.000 |
| 5:115620533:A:G | F114L | 1.000 |
| 5:115620537:A:C | N112K | 1.000 |
| 5:115620537:A:T | N112K | 1.000 |
| 5:115620538:T:A | N112I | 1.000 |
| 5:115616281:G:C | S201R | 0.999 |
| 5:115616281:G:T | S201R | 0.999 |
| 5:115616283:T:G | S201R | 0.999 |
| 5:115616349:C:G | A179P | 0.999 |
| 5:115616357:C:G | R176P | 0.999 |
| 5:115616367:C:G | A173P | 0.999 |
| 5:115616378:C:G | R169P | 0.999 |
| 5:115616411:A:G | L158P | 0.999 |
| 5:115620508:A:T | V122E | 0.999 |
| 5:115620515:T:C | K120E | 0.999 |
| 5:115620529:G:A | S115F | 0.999 |
| 5:115620532:A:C | F114C | 0.999 |
| 5:115620539:T:A | N112Y | 0.999 |
| 5:115620544:A:G | F110S | 0.999 |
| 5:115620548:A:G | C109R | 0.999 |
| 5:115620670:C:A | G68V | 0.999 |
| 5:115620671:C:A | G68C | 0.999 |
| 5:115625604:G:C | F63L | 0.999 |
| 5:115625604:G:T | F63L | 0.999 |
| 5:115625606:A:G | F63L | 0.999 |
| 5:115616248:G:C | F212L | 0.998 |
dbSNP variants (sampled 300 via entrez): RS1000002066 (5:115615435 T>C), RS1000272926 (5:115619220 T>C), RS1001226481 (5:115615001 C>T), RS1001264664 (5:115617528 A>G), RS1001304207 (5:115622416 C>G), RS1001351606 (5:115622025 A>C), RS1001403721 (5:115622291 A>G), RS1001680813 (5:115615342 A>G), RS1002371427 (5:115616851 C>G), RS1002641175 (5:115627135 T>C), RS1002968279 (5:115626861 CTT>C), RS1003177897 (5:115621894 A>G), RS1003228575 (5:115627043 C>T), RS1003235435 (5:115625991 G>A,C), RS1003309662 (5:115625040 G>C)
Disease associations
OMIM: gene MIM:619990 | disease phenotypes:
GenCC curated gene-disease
| Disease | Classification | Inheritance |
|---|---|---|
| retinal disorder | Limited | Autosomal recessive |
Mondo (1): retinal disorder (MONDO:0005283)
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
4 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST004262_3 | Liver injury in combined anti-retroviral and anti-tuberculosis drug-treated HIV with tuberculosis | 4.000000e-06 |
| GCST007059_14 | Response to antidepressants (symptom improvement) | 5.000000e-06 |
| GCST012226_56 | Waist circumference adjusted for body mass index | 8.000000e-11 |
| GCST012227_182 | Hip circumference adjusted for BMI | 8.000000e-13 |
EFO canonical traits (2, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0007789 | BMI-adjusted waist circumference |
| EFO:0008039 | BMI-adjusted hip circumference |
MeSH disease descriptors (1)
| Descriptor | Name | Tree numbers |
|---|---|---|
| D012164 | Retinal Diseases | C11.768 |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: yes
ChEMBL targets (1): CHEMBL6067355 (SINGLE PROTEIN)
PharmGKB: 1 entry (VIP=true, CPIC=false)
ChEMBL bioactivities
2 potent at pChembl≥5 of 2 total, top 2 by pChembl (potency: 10 = 0.1 nM, 6 = 1 µM).
| pChembl | Type | Value | Unit | Molecule |
|---|---|---|---|---|
| 5.67 | Kd | 2125 | nM | CHEMBL5653589 |
| 5.67 | ED50 | 2125 | nM | CHEMBL5653589 |
PubChem BioAssay actives
1 with measured affinity, of 2 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 | 2149603: Binding affinity to human TMED7 incubated for 45 mins by Kinobead based pull down assay | kd | 2.1246 | uM |
CTD chemical–gene interactions
15 total (human), top 15 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Cyclosporine | decreases methylation, increases expression | 3 |
| sodium arsenite | decreases expression | 2 |
| Tunicamycin | increases expression | 2 |
| Valproic Acid | increases expression | 2 |
| aristolochic acid I | decreases expression | 1 |
| bisphenol A | increases expression | 1 |
| abrine | decreases expression | 1 |
| jinfukang | decreases expression | 1 |
| Air Pollutants | decreases expression, increases abundance | 1 |
| Cisplatin | decreases expression | 1 |
| Piroxicam | increases expression | 1 |
| Smoke | decreases expression, increases abundance | 1 |
| Tobacco Smoke Pollution | increases expression | 1 |
| Aflatoxin B1 | decreases methylation | 1 |
| Aflatoxin M1 | 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 |
|---|---|---|---|
| CHEMBL5652645 | Binding | Binding affinity to human TMED7 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
2 cell lines: 2 cancer cell line
First 10 cell lines (id-ordered, not curated):
| Cellosaurus | Name | Category | Sex |
|---|---|---|---|
| CVCL_TS73 | HAP1 TMED7 (-) 1 | Cancer cell line | Male |
| CVCL_XU34 | HAP1 TMED7 (-) 2 | Cancer cell line | Male |
Clinical trials (associated diseases)
27 trials via MONDO — disease-level, not drug-specific.
| Trial | Phase | Status | Title |
|---|---|---|---|
| NCT01955135 | PHASE4 | COMPLETED | Anesthesia for Retinopathy of Prematurity |
| NCT01373476 | PHASE2 | COMPLETED | Multicentre, Randomized, Controlled Trial of Qideng Mingmu Capsule in The Treatment of Diabetic Retinopathy |
| NCT01793090 | PHASE2 | COMPLETED | EPI-743 in Cobalamin C Defect: Effects on Visual and Neurological Impairment |
| NCT04311112 | PHASE2/PHASE3 | WITHDRAWN | Safety and Efficacy of Zuretinol Acetate in Subjects With Inherited Retinal Disease |
| NCT04008121 | EARLY_PHASE1 | RECRUITING | Feasibility and Safety of MB-102 in Ocular Angiography as Compared to Fluorescein Sodium |
| NCT00259701 | Not specified | COMPLETED | Microvascular Reactivity. |
| NCT00331370 | Not specified | UNKNOWN | Hypertension Related Damage to the Microcirculation in South Asian: Emergence, Predictive Power and Reversibility |
| NCT00618644 | Not specified | WITHDRAWN | Ranibizumab for Neovascularization in Sickle Cell Retinopathy |
| NCT00735657 | Not specified | COMPLETED | Anesthesia for Pars Plana Vitrectomy (PPV) With Insulin Needle |
| NCT00828425 | Not specified | COMPLETED | Management of Diabetes Mellitus Patients With Retinopathy |
| NCT00969956 | Not specified | TERMINATED | Time To Complications Occurs in Diabetes |
| NCT01412905 | Not specified | COMPLETED | Telemedicine Retinal Screening Utilizing a Mobile Medical Unit |
| NCT01546766 | Not specified | COMPLETED | Rapid, Non-invasive, Regional Functional Imaging of the Retina. (Diabetic Retinopathy Diagnosis Device) |
| NCT01552993 | Not specified | TERMINATED | Registration and Treatment of Pain During Eye Examination of Prematurity |
| NCT01815567 | Not specified | COMPLETED | DETECT and Retinal Outcomes in Hypertension |
| NCT02321904 | Not specified | COMPLETED | Corneal Confocal Microscopy to Detect Diabetic Neuropathy in Children |
| NCT02466607 | Not specified | COMPLETED | Study of Stimulus Parameters in Flicker Electroretinogram (ERG) |
| NCT02558478 | Not specified | UNKNOWN | Identification of New Genes Implicated in Rare Neurosensory Diseases by Whole Exome Sequencing |
| NCT02702973 | Not specified | UNKNOWN | Characteristic Analysis of Retinopathy Associated With High Doses of Interferon α-2b Therapy |
| NCT03011541 | Not specified | RECRUITING | Stem Cell Ophthalmology Treatment Study II |
| NCT03542734 | Not specified | RECRUITING | Cognitive Impairment, Retinopathy, and Cerebrovascular Lesions in the Elderly |
| NCT03901898 | Not specified | COMPLETED | Feasibility of an Intervention to Increase Diabetic Retinopathy Screening Attendance |
| NCT04819893 | Not specified | RECRUITING | Study of the Involvement of Fatty Acids in Retinopathy of Prematurity: Relationship Between Retinopathy of Prematurity and the Rate of Expression of Transplacental Fatty Acid Receptors. |
| NCT05921981 | Not specified | COMPLETED | Multisensory Stimulation Versus White Noise |
| NCT06239064 | Not specified | ACTIVE_NOT_RECRUITING | Early Genetic Identification of Obesity |
| NCT06355219 | Not specified | COMPLETED | Macrovascular and Microvascular Morbidity and Mortality After Metabolic Surgery Versus Medicines |
| NCT06837181 | Not specified | RECRUITING | Studying the Presence of CFRD Complications With Thoughtful Recruitment (SPeCTRuM) |
Related Atlas pages
- Associated diseases: retinal disorder
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): drug-induced liver injury, retinal disorder