TMED1
gene geneOn this page
Also known as ST2LMGC1270IL1RL1LGIl1rl1lp24gamma1p24g1
Summary
TMED1 (transmembrane p24 trafficking protein 1, HGNC:17291) is a protein-coding gene on chromosome 19p13.2, encoding Transmembrane emp24 domain-containing protein 1 (Q13445). Potential role in vesicular protein trafficking, mainly in the early secretory pathway.
This gene belongs to the TMED (transmembrane emp24 domain-containing) protein family, which is involved in the vesicular trafficking of proteins. The protein encoded by this gene was identified by its interaction with interleukin 1 receptor-like 1 (IL1RL1) and may play a role in innate immunity. This protein lacks any similarity to other interleukin 1 ligands. Alternative splicing results in multiple transcript variants of this gene.
Source: NCBI Gene 11018 — RefSeq curated summary.
At a glance
- Clinical variants (ClinVar): 49 total
- MANE Select transcript:
NM_006858
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:17291 |
| Approved symbol | TMED1 |
| Name | transmembrane p24 trafficking protein 1 |
| Location | 19p13.2 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | ST2L, MGC1270, IL1RL1LG, Il1rl1l, p24gamma1, p24g1 |
| Ensembl gene | ENSG00000099203 |
| Ensembl biotype | protein_coding |
| OMIM | 605395 |
| Entrez | 11018 |
Gene structure
Transcript identifiers
Ensembl transcripts: 8 — 6 protein_coding, 2 nonsense_mediated_decay
ENST00000214869, ENST00000586835, ENST00000588259, ENST00000588289, ENST00000589638, ENST00000591157, ENST00000591695, ENST00000941053
RefSeq mRNA: 1 — MANE Select: NM_006858
NM_006858
CCDS: CCDS12249
Canonical transcript exons
ENST00000214869 — 4 exons
| Exon | Start | End |
|---|---|---|
| ENSE00000888260 | 10832067 | 10833213 |
| ENSE00002887657 | 10836009 | 10836212 |
| ENSE00003462337 | 10835256 | 10835353 |
| ENSE00003475959 | 10834934 | 10835117 |
Expression profiles
Bgee: expression breadth ubiquitous, 281 present calls, max score 94.97.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 12.7500 / max 85.2862, expressed in 1801 samples.
FANTOM5 promoters (2 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 179176 | 7.6978 | 1739 |
| 179177 | 5.0522 | 1712 |
Top tissues by expression
296 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| stromal cell of endometrium | CL:0002255 | 94.97 | gold quality |
| apex of heart | UBERON:0002098 | 93.74 | gold quality |
| hindlimb stylopod muscle | UBERON:0004252 | 92.57 | gold quality |
| gastrocnemius | UBERON:0001388 | 92.55 | gold quality |
| muscle of leg | UBERON:0001383 | 92.07 | gold quality |
| primordial germ cell in gonad | CL:0000670 ∩ UBERON:0000991 | 91.20 | gold quality |
| adenohypophysis | UBERON:0002196 | 91.11 | gold quality |
| right lobe of liver | UBERON:0001114 | 91.02 | gold quality |
| right uterine tube | UBERON:0001302 | 90.68 | gold quality |
| left ovary | UBERON:0002119 | 90.33 | gold quality |
| pituitary gland | UBERON:0000007 | 90.30 | gold quality |
| heart left ventricle | UBERON:0002084 | 90.30 | gold quality |
| muscle organ | UBERON:0001630 | 90.27 | gold quality |
| cardiac ventricle | UBERON:0002082 | 90.04 | gold quality |
| metanephros cortex | UBERON:0010533 | 90.01 | gold quality |
| right adrenal gland | UBERON:0001233 | 89.99 | gold quality |
| right ovary | UBERON:0002118 | 89.99 | gold quality |
| endocervix | UBERON:0000458 | 89.82 | gold quality |
| right adrenal gland cortex | UBERON:0035827 | 89.80 | gold quality |
| adult mammalian kidney | UBERON:0000082 | 89.69 | gold quality |
| left adrenal gland | UBERON:0001234 | 89.66 | gold quality |
| periodontal ligament | UBERON:0008266 | 89.24 | gold quality |
| left adrenal gland cortex | UBERON:0035825 | 89.20 | gold quality |
| male germ line stem cell (sensu Vertebrata) in testis | CL:0000089 ∩ UBERON:0000473 | 88.95 | gold quality |
| adrenal cortex | UBERON:0001235 | 88.92 | gold quality |
| granulocyte | CL:0000094 | 88.88 | gold quality |
| right lobe of thyroid gland | UBERON:0001119 | 88.86 | gold quality |
| skeletal muscle tissue of rectus abdominis | UBERON:0004511 | 88.82 | gold quality |
| body of pancreas | UBERON:0001150 | 88.81 | gold quality |
| heart | UBERON:0000948 | 88.77 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 6.17 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
45 targeting TMED1, 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-4283 | 100.00 | 66.42 | 2097 |
| HSA-MIR-3910 | 99.95 | 71.13 | 2227 |
| HSA-MIR-124-3P | 99.89 | 73.74 | 3043 |
| HSA-MIR-506-3P | 99.89 | 73.55 | 3057 |
| HSA-MIR-221-5P | 99.86 | 65.45 | 1052 |
| HSA-MIR-8073 | 99.86 | 65.21 | 1118 |
| HSA-MIR-4728-5P | 99.85 | 69.39 | 4718 |
| HSA-MIR-6785-5P | 99.82 | 68.68 | 4428 |
| HSA-MIR-4659A-3P | 99.80 | 72.62 | 4248 |
| HSA-MIR-4659B-3P | 99.80 | 72.62 | 4248 |
| HSA-MIR-1273H-5P | 99.77 | 66.32 | 2471 |
| HSA-MIR-4319 | 99.76 | 69.83 | 2586 |
| HSA-MIR-149-3P | 99.72 | 68.22 | 3963 |
| HSA-MIR-3714 | 99.71 | 70.74 | 2671 |
| HSA-MIR-6883-5P | 99.69 | 68.05 | 3785 |
| HSA-MIR-6887-3P | 99.66 | 67.83 | 1778 |
| HSA-MIR-7150 | 99.62 | 66.80 | 1322 |
| HSA-MIR-8064 | 99.45 | 66.92 | 875 |
| HSA-MIR-4762-3P | 99.43 | 69.72 | 2363 |
| HSA-MIR-125A-5P | 99.36 | 70.59 | 1640 |
| HSA-MIR-125B-5P | 99.36 | 70.36 | 1662 |
| HSA-MIR-128-1-5P | 99.33 | 60.46 | 332 |
| HSA-MIR-5582-5P | 99.27 | 71.42 | 1879 |
| HSA-MIR-8070 | 99.07 | 69.30 | 1303 |
| HSA-MIR-4695-5P | 99.06 | 64.87 | 1151 |
| HSA-MIR-3619-5P | 99.00 | 68.87 | 2308 |
| HSA-MIR-214-3P | 98.71 | 68.12 | 2128 |
| HSA-MIR-761 | 98.71 | 68.07 | 2051 |
| HSA-MIR-1227-5P | 98.65 | 65.32 | 1549 |
| HSA-MIR-12125 | 98.59 | 67.54 | 1044 |
Literature-anchored findings (GeneRIF, showing 3)
- ST2L is stably and selectively expressed on human Th2, Tc2 and NK2 lymphocyte lines and can be used as a marker for determining shifts in immune status of human diseases such as HIV infection. (PMID:11466339)
- The GOLD domain-containing protein TMED1 is involved in interleukin-33 signaling (PMID:23319592)
- Structural and thermodynamic analyses of human TMED1 (p24gamma1) Golgi dynamics. (PMID:34634369)
Cross-species orthologs
6 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | tmed1b | ENSDARG00000017255 |
| danio_rerio | tmed1a | ENSDARG00000031325 |
| mus_musculus | Tmed1 | ENSMUSG00000032180 |
| rattus_norvegicus | Tmed1 | ENSRNOG00000008037 |
| drosophila_melanogaster | p24-1 | FBGN0030341 |
| caenorhabditis_elegans | WBGENE00011606 |
Paralogs (8): TMED2 (ENSG00000086598), TMED5 (ENSG00000117500), TMED7 (ENSG00000134970), TMED6 (ENSG00000157315), TMED4 (ENSG00000158604), TMED3 (ENSG00000166557), TMED10 (ENSG00000170348), TMED9 (ENSG00000184840)
Protein
Protein identifiers
Transmembrane emp24 domain-containing protein 1 — Q13445 (reviewed: Q13445)
Alternative names: Interleukin-1 receptor-like 1 ligand, Putative T1/ST2 receptor-binding protein, p24 family protein gamma-1
All UniProt accessions (7): Q13445, K7EIN4, K7EIR1, K7EQ63, K7ER03, K7ERK5, K7ES06
UniProt curated annotations — full annotation on UniProt →
Function. Potential role in vesicular protein trafficking, mainly in the early secretory pathway. May act as a cargo receptor at the lumenal side for incorporation of secretory cargo molecules into transport vesicles and may be involved in vesicle coat formation at the cytoplasmic side. Plays a positive role in IL-33-mediated IL-8 and IL-6 production by interacting with interleukin-33 receptor IL1RL1. Also plays a role in the modulation of innate immune signaling through the cGAS-STING pathway by interacting with RNF26.
Subunit / interactions. Homodimer in endoplasmic reticulum, endoplasmic reticulum-Golgi intermediate compartment and cis-Golgi network. Interacts with IL1RL1. Interacts with RNF26; this interaction is important to modulate innate immune signaling through the cGAS-STING pathway.
Subcellular location. Cell membrane. Endoplasmic reticulum membrane. Golgi apparatus. cis-Golgi network membrane. Endoplasmic reticulum-Golgi intermediate compartment membrane.
Tissue specificity. Widely expressed.
Miscellaneous. Found only in very low concentrations in the endoplasmic reticulum, Golgi apparatus and endoplasmic reticulum-Golgi intermediate compartment compared to other members of the EMP24/GP25L family.
Similarity. Belongs to the EMP24/GP25L family.
RefSeq proteins (1): NP_006849* (*=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 (19 total): strand 7, mutagenesis site 2, topological domain 2, short sequence motif 2, signal peptide 1, chain 1, transmembrane region 1, domain 1, coiled-coil region 1, sequence variant 1
Structure
Experimental structures (PDB)
1 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 7RRM | X-RAY DIFFRACTION | 1.72 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q13445-F1 | 83.68 | 0.54 |
Functional residue map
Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.
Mutagenesis-validated functional residues (2):
| Position | Phenotype |
|---|---|
| 45 | significant loss of interaction with il1rl1. |
| 106 | significant loss of interaction with il1rl1. |
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 144 (showing top):
GSE18804_SPLEEN_MACROPHAGE_VS_COLON_TUMORAL_MACROPHAGE_DN, GOBP_INTRACELLULAR_PROTEIN_TRANSPORT, DACOSTA_UV_RESPONSE_VIA_ERCC3_UP, AREB6_01, GOBP_VESICLE_MEDIATED_TRANSPORT, MODULE_70, GOBP_CELL_CELL_SIGNALING, GTGCCTT_MIR506, GOBP_DEFENSE_RESPONSE_TO_OTHER_ORGANISM, GOBP_ENDOPLASMIC_RETICULUM_TO_GOLGI_VESICLE_MEDIATED_TRANSPORT, GOCC_COATED_VESICLE, GOBP_ENDOMEMBRANE_SYSTEM_ORGANIZATION, GOMF_SIGNALING_RECEPTOR_BINDING, TGCCTTA_MIR124A, GOBP_GOLGI_ORGANIZATION
GO Biological Process (8): intracellular protein transport (GO:0006886), endoplasmic reticulum to Golgi vesicle-mediated transport (GO:0006888), Golgi organization (GO:0007030), signal transduction (GO:0007165), cell-cell signaling (GO:0007267), innate immune response (GO:0045087), immune system process (GO:0002376), protein transport (GO:0015031)
GO Molecular Function (2): signaling receptor binding (GO:0005102), protein binding (GO:0005515)
GO Cellular Component (8): endoplasmic reticulum (GO:0005783), endoplasmic reticulum membrane (GO:0005789), endoplasmic reticulum-Golgi intermediate compartment (GO:0005793), Golgi apparatus (GO:0005794), plasma membrane (GO:0005886), COPII-coated ER to Golgi transport vesicle (GO:0030134), endoplasmic reticulum-Golgi intermediate compartment membrane (GO:0033116), membrane (GO:0016020)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cytoplasm | 4 |
| intracellular membrane-bounded organelle | 3 |
| intracellular protein localization | 2 |
| intracellular transport | 2 |
| cell communication | 2 |
| signaling | 2 |
| endomembrane system | 2 |
| protein transport | 1 |
| intercellular transport | 1 |
| Golgi vesicle transport | 1 |
| organelle organization | 1 |
| endomembrane system organization | 1 |
| cellular process | 1 |
| regulation of cellular process | 1 |
| cellular response to stimulus | 1 |
| immune response | 1 |
| defense response to symbiont | 1 |
| biological_process | 1 |
| transport | 1 |
| establishment of protein localization | 1 |
| protein binding | 1 |
| binding | 1 |
| organelle membrane | 1 |
| nuclear outer membrane-endoplasmic reticulum membrane network | 1 |
| endoplasmic reticulum subcompartment | 1 |
| membrane | 1 |
| cell periphery | 1 |
| coated vesicle | 1 |
| endoplasmic reticulum-Golgi intermediate compartment | 1 |
| bounding membrane of organelle | 1 |
| cellular anatomical structure | 1 |
Protein interactions and networks
STRING
582 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| TMED1 | IL1RL1 | Q01638 | 814 |
| TMED1 | TMED9 | Q9BVK6 | 678 |
| TMED1 | TMED10 | P49755 | 631 |
| TMED1 | TMED4 | Q7Z7H5 | 622 |
| TMED1 | ENDOD1 | O94919 | 550 |
| TMED1 | TMEM33 | P57088 | 529 |
| TMED1 | C3orf18 | Q9UK00 | 497 |
| TMED1 | IL1RN | P18510 | 493 |
| TMED1 | FAM8A1 | Q9UBU6 | 490 |
| TMED1 | E9PSI1 | E9PSI1 | 479 |
| TMED1 | GFRAL | Q6UXV0 | 461 |
| TMED1 | APP | P05067 | 459 |
| TMED1 | PRSS57 | Q6UWY2 | 455 |
| TMED1 | RNF26 | Q9BY78 | 451 |
| TMED1 | DENND1A | Q8TEH3 | 445 |
IntAct
93 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| CDK5RAP3 | UFL1 | psi-mi:“MI:0914”(association) | 0.870 |
| SGF29 | NDC80 | psi-mi:“MI:0914”(association) | 0.840 |
| EXOC1 | EXOC5 | psi-mi:“MI:0914”(association) | 0.730 |
| TMED10 | TMED1 | psi-mi:“MI:0914”(association) | 0.730 |
| TMED9 | TMED10 | psi-mi:“MI:0914”(association) | 0.730 |
| DDRGK1 | UFL1 | psi-mi:“MI:0914”(association) | 0.710 |
| TMED2 | ATP9A | psi-mi:“MI:0914”(association) | 0.640 |
| RAF1 | CALU | psi-mi:“MI:0914”(association) | 0.640 |
| CHST8 | CANX | psi-mi:“MI:0914”(association) | 0.640 |
| FGF3 | GTPBP10 | psi-mi:“MI:0914”(association) | 0.530 |
| SPPL2B | UQCRQ | psi-mi:“MI:0914”(association) | 0.530 |
| JPH4 | ZSWIM8 | psi-mi:“MI:0914”(association) | 0.530 |
| CD226 | MEN1 | psi-mi:“MI:0914”(association) | 0.530 |
| CDK5RAP3 | PLD2 | psi-mi:“MI:0914”(association) | 0.530 |
| CREB3 | MYO9A | psi-mi:“MI:0914”(association) | 0.530 |
| EXOC3 | TMED1 | psi-mi:“MI:0914”(association) | 0.510 |
| JUN | NKRF | psi-mi:“MI:0914”(association) | 0.460 |
| TMED1 | TMED1 | 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 |
| TMED1 | F2RL1 | psi-mi:“MI:0915”(physical association) | 0.370 |
| TMED1 | GPR37 | psi-mi:“MI:0915”(physical association) | 0.370 |
| TMED1 | LTB4R2 | psi-mi:“MI:0915”(physical association) | 0.370 |
| SMAD3 | TMED1 | psi-mi:“MI:0915”(physical association) | 0.370 |
| Tmed10 | TARS3 | psi-mi:“MI:0914”(association) | 0.350 |
| Tmed10 | NDUFS8 | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (103): TMED1 (Affinity Capture-MS), TMED1 (Affinity Capture-MS), TMED1 (Affinity Capture-MS), TMED1 (Affinity Capture-MS), TMED1 (Affinity Capture-MS), TMED1 (Affinity Capture-MS), TMED1 (Affinity Capture-MS), TMED1 (Affinity Capture-MS), TMED1 (Affinity Capture-MS), TMED1 (Affinity Capture-MS), TMED1 (Affinity Capture-MS), TMED1 (Affinity Capture-MS), TMED1 (Affinity Capture-MS), TMED1 (Affinity Capture-MS), TMED1 (Affinity Capture-MS)
ESM2 similar proteins: A5PK45, A6NDV4, B1AWJ5, O14908, O18735, O60568, O70422, O97583, P04626, P06494, P52849, P52850, P60027, P70424, Q0GA42, Q13445, Q1WIM1, Q28BQ6, Q2KJ84, Q2TBK5, Q3V009, Q5BK85, Q5R6K5, Q5R7E6, Q5R809, Q5U367, Q5ZIW1, Q60553, Q6AXN3, Q6AY25, Q6IEE7, Q78IS1, Q7Z4H8, Q812F8, Q8BRK9, Q8K297, Q8NBJ5, Q8NFZ8, Q8R464, Q92759
Diamond homologs: A7SXK3, D3ZTX0, O13770, O17528, P49020, Q13445, Q15363, Q28BQ6, Q2KJ84, Q2TBK5, Q3T133, Q3V009, Q54BN0, Q5BK85, Q5I0E7, Q5R7E6, Q5R809, Q63524, Q6AXN3, Q6AY25, Q769F9, Q78IS1, Q7Z7H5, Q99KF1, Q9BVK6, Q9CXE7, Q9R0Q3, Q9Y3A6, Q9Y3B3, Q9Y3Q3, P39704, Q12450
SIGNOR signaling
0 interactions.
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 116 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 |
|---|---|---|---|
| response to endoplasmic reticulum stress | 7 | 11.0× | 1e-03 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
49 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 37 |
| Likely benign | 1 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
550 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 19:10833209:GACTC:G | acceptor_gain | 1.0000 |
| 19:10833210:ACTC:A | acceptor_gain | 1.0000 |
| 19:10833211:CTC:C | acceptor_gain | 1.0000 |
| 19:10833211:CTCC:C | acceptor_gain | 1.0000 |
| 19:10833212:TC:T | acceptor_gain | 1.0000 |
| 19:10833212:TCCT:T | acceptor_gain | 1.0000 |
| 19:10833213:CC:C | acceptor_gain | 1.0000 |
| 19:10833213:CCTAC:C | acceptor_loss | 1.0000 |
| 19:10833214:C:CC | acceptor_gain | 1.0000 |
| 19:10833215:T:G | acceptor_loss | 1.0000 |
| 19:10833222:C:CT | acceptor_gain | 1.0000 |
| 19:10833223:A:T | acceptor_gain | 1.0000 |
| 19:10834929:CACA:C | donor_loss | 1.0000 |
| 19:10834930:ACACC:A | donor_loss | 1.0000 |
| 19:10834931:CACC:C | donor_loss | 1.0000 |
| 19:10834932:A:AC | donor_gain | 1.0000 |
| 19:10834933:C:CA | donor_gain | 1.0000 |
| 19:10834933:C:CC | donor_gain | 1.0000 |
| 19:10834933:C:CT | donor_loss | 1.0000 |
| 19:10834944:T:TA | donor_gain | 1.0000 |
| 19:10834956:T:TA | donor_gain | 1.0000 |
| 19:10835113:CCACC:C | acceptor_gain | 1.0000 |
| 19:10835114:CACC:C | acceptor_gain | 1.0000 |
| 19:10835114:CACCC:C | acceptor_gain | 1.0000 |
| 19:10835116:CC:C | acceptor_gain | 1.0000 |
| 19:10835117:CC:C | acceptor_gain | 1.0000 |
| 19:10835118:C:CC | acceptor_gain | 1.0000 |
| 19:10835118:C:T | acceptor_gain | 1.0000 |
| 19:10835123:C:CT | acceptor_gain | 1.0000 |
| 19:10835250:A:C | donor_gain | 1.0000 |
AlphaMissense
1478 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 19:10835072:G:C | N109K | 1.000 |
| 19:10835072:G:T | N109K | 1.000 |
| 19:10833131:C:G | R183P | 0.999 |
| 19:10835079:A:G | F107S | 0.999 |
| 19:10835039:G:C | F120L | 0.998 |
| 19:10835039:G:T | F120L | 0.998 |
| 19:10835041:A:G | F120L | 0.998 |
| 19:10833141:C:G | A180P | 0.997 |
| 19:10835043:A:T | V119E | 0.997 |
| 19:10835063:G:C | S112R | 0.997 |
| 19:10835063:G:T | S112R | 0.997 |
| 19:10835065:T:G | S112R | 0.997 |
| 19:10835066:G:C | F111L | 0.997 |
| 19:10835066:G:T | F111L | 0.997 |
| 19:10835068:A:G | F111L | 0.997 |
| 19:10835073:T:A | N109I | 0.997 |
| 19:10835079:A:C | F107C | 0.997 |
| 19:10835082:C:G | C106S | 0.997 |
| 19:10835083:A:G | C106R | 0.997 |
| 19:10835083:A:T | C106S | 0.997 |
| 19:10835316:A:G | L74P | 0.997 |
| 19:10835322:A:G | F72S | 0.997 |
| 19:10836013:T:C | Y60C | 0.997 |
| 19:10833137:C:G | R181P | 0.996 |
| 19:10833175:G:C | S168R | 0.996 |
| 19:10833175:G:T | S168R | 0.996 |
| 19:10833177:T:G | S168R | 0.996 |
| 19:10835064:C:A | S112I | 0.996 |
| 19:10835092:A:C | Y103D | 0.996 |
| 19:10835098:C:A | G101W | 0.996 |
dbSNP variants (sampled 300 via entrez): RS1000966057 (19:10837700 G>A,T), RS1002826531 (19:10835317 G>A,C), RS1002865126 (19:10832381 C>A,T), RS1002929105 (19:10832197 C>G,T), RS1003688947 (19:10836543 G>A,T), RS1003920864 (19:10833218 A>G), RS1004411238 (19:10834639 C>A,T), RS1006130665 (19:10837166 A>G), RS1006209341 (19:10834836 G>A,T), RS1006264656 (19:10834614 G>A,C), RS1006342777 (19:10832208 C>T), RS1006887596 (19:10836996 A>C,T), RS1006938468 (19:10836777 C>A,T), RS1007247015 (19:10831653 C>T), RS1008445844 (19:10831894 G>A)
Disease associations
OMIM: gene MIM:605395 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
0 associations (top):
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
17 total (human), top 17 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Valproic Acid | affects expression, decreases expression | 3 |
| Cadmium Chloride | decreases reaction, increases abundance, increases palmitoylation, decreases expression | 2 |
| triphenyl phosphate | affects expression | 1 |
| propionaldehyde | decreases expression | 1 |
| sodium arsenite | decreases expression | 1 |
| 2-bromopalmitate | decreases reaction, increases abundance, increases palmitoylation | 1 |
| ICG 001 | increases expression | 1 |
| bisphenol B | increases expression | 1 |
| abrine | increases expression | 1 |
| bisphenol S | 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 |
| Vorinostat | decreases expression | 1 |
| Cadmium | decreases reaction, increases abundance, increases palmitoylation | 1 |
| Cytarabine | decreases expression | 1 |
| Ivermectin | decreases expression | 1 |
| Smoke | decreases expression | 1 |
Cellosaurus cell lines
4 cell lines: 4 cancer cell line
First 10 cell lines (id-ordered, not curated):
| Cellosaurus | Name | Category | Sex |
|---|---|---|---|
| CVCL_C7YT | HAP1 TMED1 (-) 1 | Cancer cell line | Male |
| CVCL_C7YU | HAP1 TMED1 (-) 2 | Cancer cell line | Male |
| CVCL_C7YV | HAP1 TMED1 (-) 3 | Cancer cell line | Male |
| CVCL_C7YW | HAP1 TMED1 (-) 4 | 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.