TMED5
gene geneOn this page
Also known as CGI-100p24g2p24gamma2
Summary
TMED5 (transmembrane p24 trafficking protein 5, HGNC:24251) is a protein-coding gene on chromosome 1p22.1, encoding Transmembrane emp24 domain-containing protein 5 (Q9Y3A6). Potential role in vesicular protein trafficking, mainly in the early secretory pathway.
Involved in Golgi ribbon formation. Located in cis-Golgi network; endoplasmic reticulum exit site; and endoplasmic reticulum-Golgi intermediate compartment.
Source: NCBI Gene 50999 — RefSeq curated summary.
At a glance
- GWAS associations: 1
- Clinical variants (ClinVar): 23 total
- MANE Select transcript:
NM_016040
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:24251 |
| Approved symbol | TMED5 |
| Name | transmembrane p24 trafficking protein 5 |
| Location | 1p22.1 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | CGI-100, p24g2, p24gamma2 |
| Ensembl gene | ENSG00000117500 |
| Ensembl biotype | protein_coding |
| OMIM | 616876 |
| Entrez | 50999 |
Gene structure
Transcript identifiers
Ensembl transcripts: 10 — 8 protein_coding, 1 nonsense_mediated_decay, 1 protein_coding_CDS_not_defined
ENST00000370280, ENST00000370282, ENST00000370290, ENST00000479918, ENST00000483033, ENST00000909499, ENST00000909500, ENST00000909501, ENST00000909502, ENST00000935198
RefSeq mRNA: 3 — MANE Select: NM_016040
NM_001167830, NM_001410825, NM_016040
CCDS: CCDS53342, CCDS743, CCDS91003
Canonical transcript exons
ENST00000370282 — 4 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001285089 | 93180054 | 93180413 |
| ENSE00001945361 | 93149742 | 93154888 |
| ENSE00003068067 | 93160129 | 93160226 |
| ENSE00003503514 | 93156300 | 93156483 |
Expression profiles
Bgee: expression breadth ubiquitous, 294 present calls, max score 98.02.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 47.7636 / max 371.8702, expressed in 1825 samples.
FANTOM5 promoters (4 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 13300 | 45.5184 | 1824 |
| 13299 | 1.4329 | 777 |
| 13302 | 0.7519 | 363 |
| 13301 | 0.0604 | 11 |
Top tissues by expression
295 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| skeletal muscle tissue of biceps brachii | UBERON:0004502 | 98.02 | gold quality |
| parietal pleura | UBERON:0002400 | 98.00 | gold quality |
| biceps brachii | UBERON:0001507 | 97.87 | gold quality |
| corpus epididymis | UBERON:0004359 | 97.83 | gold quality |
| choroid plexus epithelium | UBERON:0003911 | 97.60 | gold quality |
| pleura | UBERON:0000977 | 97.56 | gold quality |
| sperm | CL:0000019 | 97.40 | gold quality |
| mucosa of sigmoid colon | UBERON:0004993 | 97.15 | gold quality |
| jejunal mucosa | UBERON:0000399 | 96.90 | gold quality |
| visceral pleura | UBERON:0002401 | 96.89 | gold quality |
| diaphragm | UBERON:0001103 | 96.87 | gold quality |
| decidua | UBERON:0002450 | 96.87 | gold quality |
| pigmented layer of retina | UBERON:0001782 | 96.86 | gold quality |
| colonic mucosa | UBERON:0000317 | 96.76 | gold quality |
| skeletal muscle tissue of rectus abdominis | UBERON:0004511 | 96.67 | gold quality |
| nephron tubule | UBERON:0001231 | 96.36 | gold quality |
| superficial temporal artery | UBERON:0001614 | 96.36 | gold quality |
| lower lobe of lung | UBERON:0008949 | 96.33 | gold quality |
| renal glomerulus | UBERON:0000074 | 96.30 | gold quality |
| cartilage tissue | UBERON:0002418 | 96.27 | gold quality |
| pericardium | UBERON:0002407 | 96.21 | gold quality |
| heart right ventricle | UBERON:0002080 | 96.20 | gold quality |
| metanephric glomerulus | UBERON:0004736 | 96.14 | gold quality |
| male germ cell | CL:0000015 | 95.93 | gold quality |
| cauda epididymis | UBERON:0004360 | 95.90 | gold quality |
| bronchial epithelial cell | CL:0002328 | 95.84 | gold quality |
| caput epididymis | UBERON:0004358 | 95.67 | gold quality |
| palpebral conjunctiva | UBERON:0001812 | 95.60 | gold quality |
| adrenal tissue | UBERON:0018303 | 95.55 | gold quality |
| germinal epithelium of ovary | UBERON:0001304 | 95.48 | gold quality |
Single-cell (SCXA)
Detected in 3 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 13.55 |
| E-CURD-112 | no | 2.55 |
| E-MTAB-9543 | no | 2.36 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
220 targeting TMED5, 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-3646 | 100.00 | 73.56 | 5283 |
| HSA-MIR-3163 | 100.00 | 77.23 | 8605 |
| HSA-MIR-340-5P | 100.00 | 72.50 | 4437 |
| HSA-MIR-5692A | 100.00 | 74.40 | 6850 |
| HSA-MIR-3924 | 100.00 | 72.09 | 2394 |
| HSA-MIR-450A-1-3P | 100.00 | 69.33 | 1837 |
| HSA-MIR-4282 | 99.99 | 75.36 | 6408 |
| HSA-MIR-548C-3P | 99.99 | 74.01 | 7587 |
| HSA-MIR-548AW | 99.99 | 72.57 | 3559 |
| HSA-MIR-371B-5P | 99.99 | 75.34 | 4759 |
| HSA-MIR-186-5P | 99.99 | 70.83 | 3707 |
| HSA-MIR-511-3P | 99.99 | 68.85 | 1467 |
| HSA-MIR-3662 | 99.99 | 73.82 | 5684 |
| HSA-MIR-4500 | 99.99 | 72.72 | 2367 |
| HSA-MIR-4775 | 99.98 | 75.00 | 6394 |
| HSA-MIR-373-5P | 99.98 | 75.36 | 4753 |
| HSA-MIR-616-5P | 99.98 | 75.58 | 4775 |
| HSA-MIR-5696 | 99.98 | 72.36 | 4487 |
| HSA-MIR-520D-5P | 99.98 | 73.34 | 4883 |
| HSA-MIR-524-5P | 99.98 | 73.43 | 4882 |
| HSA-MIR-433-3P | 99.98 | 69.37 | 1203 |
| HSA-MIR-8068 | 99.98 | 73.85 | 2376 |
| HSA-MIR-607 | 99.97 | 73.62 | 5593 |
| HSA-MIR-590-3P | 99.96 | 74.34 | 6478 |
| HSA-MIR-3658 | 99.96 | 73.87 | 4379 |
| HSA-MIR-1468-3P | 99.96 | 72.74 | 3797 |
| HSA-MIR-1250-3P | 99.96 | 70.04 | 4038 |
| HSA-MIR-23A-3P | 99.95 | 74.24 | 3163 |
| HSA-MIR-23B-3P | 99.95 | 74.24 | 3163 |
Literature-anchored findings (GeneRIF, showing 4)
- Expression of cgi-100 mRNA decreased in a dose- and time-dependent manner in the K562 cells treated with matrine and over-expression of cgi-100 elevates the proliferation and the immaturity level of K562 cells. (PMID:18549622)
- The luminal alpha-helical but not GOLD domain of p24gamma2 was required for efficient GPI-AP transport. (PMID:24778190)
- Identification of a novel circ_0018289/miR-183-5p/TMED5 regulatory network in cervical cancer development. (PMID:34404391)
- Silencing of TMED5 inhibits proliferation, migration and invasion, and enhances apoptosis of hepatocellular carcinoma cells. (PMID:36530030)
Cross-species orthologs
5 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | tmed5 | ENSDARG00000008765 |
| mus_musculus | Tmed5 | ENSMUSG00000063406 |
| rattus_norvegicus | Tmed5 | ENSRNOG00000000073 |
| drosophila_melanogaster | p24-1 | FBGN0030341 |
| caenorhabditis_elegans | WBGENE00011606 |
Paralogs (8): TMED2 (ENSG00000086598), TMED1 (ENSG00000099203), TMED7 (ENSG00000134970), TMED6 (ENSG00000157315), TMED4 (ENSG00000158604), TMED3 (ENSG00000166557), TMED10 (ENSG00000170348), TMED9 (ENSG00000184840)
Protein
Protein identifiers
Transmembrane emp24 domain-containing protein 5 — Q9Y3A6 (reviewed: Q9Y3A6)
Alternative names: p24 family protein gamma-2, p28
All UniProt accessions (3): B1AKT3, M0R072, Q9Y3A6
UniProt curated annotations — full annotation on UniProt →
Function. Potential role in vesicular protein trafficking, mainly in the early secretory pathway. Required for the maintenance of the Golgi apparatus; involved in protein exchange between Golgi stacks during assembly. Probably not required for COPI-vesicle-mediated retrograde transport.
Subunit / interactions. Interacts with TMED9 and TMED10.
Subcellular location. Endoplasmic reticulum membrane. Golgi apparatus. cis-Golgi network membrane. Endoplasmic reticulum-Golgi intermediate compartment membrane.
Similarity. Belongs to the EMP24/GP25L family.
Isoforms (2)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q9Y3A6-1 | 1 | yes |
| Q9Y3A6-2 | 2 |
RefSeq proteins (3): NP_001161302, NP_001397754, NP_057124* (*=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 (8 total): topological domain 2, signal peptide 1, chain 1, transmembrane region 1, domain 1, splice variant 1, sequence variant 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q9Y3A6-F1 | 82.83 | 0.57 |
Function
Pathways and Gene Ontology
Reactome pathways
1 pathways
| ID | Pathway |
|---|---|
| R-HSA-3238698 | WNT ligand biogenesis and trafficking |
MSigDB gene sets: 202 (showing top):
HORIUCHI_WTAP_TARGETS_DN, RODRIGUES_THYROID_CARCINOMA_POORLY_DIFFERENTIATED_UP, GOBP_INTRACELLULAR_PROTEIN_TRANSPORT, GRAESSMANN_APOPTOSIS_BY_SERUM_DEPRIVATION_UP, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_UP, GOBP_VESICLE_MEDIATED_TRANSPORT, WEI_MYCN_TARGETS_WITH_E_BOX, GOBP_ENDOPLASMIC_RETICULUM_TO_GOLGI_VESICLE_MEDIATED_TRANSPORT, LI_WILMS_TUMOR_VS_FETAL_KIDNEY_1_UP, GOCC_COATED_VESICLE, GOBP_ENDOMEMBRANE_SYSTEM_ORGANIZATION, SCHLOSSER_SERUM_RESPONSE_DN, GOBP_GOLGI_RIBBON_FORMATION, CHARAFE_BREAST_CANCER_LUMINAL_VS_BASAL_DN, FLECHNER_BIOPSY_KIDNEY_TRANSPLANT_REJECTED_VS_OK_DN
GO Biological Process (4): intracellular protein transport (GO:0006886), endoplasmic reticulum to Golgi vesicle-mediated transport (GO:0006888), Golgi ribbon formation (GO:0090161), protein transport (GO:0015031)
GO Molecular Function (1): protein binding (GO:0005515)
GO Cellular Component (9): endoplasmic reticulum (GO:0005783), endoplasmic reticulum membrane (GO:0005789), endoplasmic reticulum-Golgi intermediate compartment (GO:0005793), Golgi apparatus (GO:0005794), cis-Golgi network (GO:0005801), COPII-coated ER to Golgi transport vesicle (GO:0030134), endoplasmic reticulum-Golgi intermediate compartment membrane (GO:0033116), endoplasmic reticulum exit site (GO:0070971), membrane (GO:0016020)
Reactome top-level categories
Rollup of top-1 pathways:
| Category | Pathways |
|---|---|
| Signaling by WNT | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cytoplasm | 4 |
| intracellular membrane-bounded organelle | 4 |
| intracellular protein localization | 2 |
| intracellular transport | 2 |
| endomembrane system | 2 |
| cellular anatomical structure | 2 |
| protein transport | 1 |
| intercellular transport | 1 |
| Golgi vesicle transport | 1 |
| Golgi 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 |
| Golgi apparatus | 1 |
| coated vesicle | 1 |
| endoplasmic reticulum-Golgi intermediate compartment | 1 |
| bounding membrane of organelle | 1 |
| endoplasmic reticulum | 1 |
Protein interactions and networks
STRING
898 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| TMED5 | TMED9 | Q9BVK6 | 944 |
| TMED5 | TMED10 | P49755 | 876 |
| TMED5 | TMED2 | Q15363 | 738 |
| TMED5 | TMED4 | Q7Z7H5 | 689 |
| TMED5 | PIGC | Q92535 | 543 |
| TMED5 | GRSF1 | Q12849 | 448 |
| TMED5 | OMA1 | Q96E52 | 416 |
| TMED5 | THAP6 | Q8TBB0 | 394 |
| TMED5 | TM9SF4 | Q92544 | 383 |
| TMED5 | MYSM1 | Q5VVJ2 | 377 |
| TMED5 | METTL13 | Q8N6R0 | 371 |
| TMED5 | MTF2 | Q9Y483 | 368 |
| TMED5 | SYPL1 | Q16563 | 362 |
| TMED5 | PGAP1 | Q75T13 | 358 |
| TMED5 | PLAGL2 | Q9UPG8 | 353 |
| TMED5 | HCK | P08631 | 353 |
IntAct
77 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| CDK5RAP3 | UFL1 | psi-mi:“MI:0914”(association) | 0.870 |
| 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 |
| CHST8 | CANX | psi-mi:“MI:0914”(association) | 0.640 |
| CXCL9 | TMED5 | psi-mi:“MI:0915”(physical association) | 0.560 |
| LIPG | NRP1 | psi-mi:“MI:0914”(association) | 0.530 |
| UBXN8 | psi-mi:“MI:0914”(association) | 0.530 | |
| CDK5RAP3 | PLD2 | psi-mi:“MI:0914”(association) | 0.530 |
| CD70 | METTL15 | psi-mi:“MI:0914”(association) | 0.530 |
| TMED5 | PRMT6 | psi-mi:“MI:0915”(physical association) | 0.510 |
| TMED5 | psi-mi:“MI:0915”(physical association) | 0.370 | |
| TMED5 | iglC2 | psi-mi:“MI:0915”(physical association) | 0.370 |
| DNAJC30 | TMED5 | psi-mi:“MI:0915”(physical association) | 0.370 |
| Tmed10 | TARS3 | psi-mi:“MI:0914”(association) | 0.350 |
| Tmed2 | psi-mi:“MI:0914”(association) | 0.350 | |
| KSR1 | DDX39A | psi-mi:“MI:0914”(association) | 0.350 |
| KSR1 | FBLL1 | psi-mi:“MI:0914”(association) | 0.350 |
| KSR1 | psi-mi:“MI:0914”(association) | 0.350 | |
| Prdm16 | ESYT2 | psi-mi:“MI:0914”(association) | 0.350 |
| Mecom | ESYT2 | psi-mi:“MI:0914”(association) | 0.350 |
| PEBP1 | ANXA2P2 | psi-mi:“MI:0914”(association) | 0.350 |
| G | TMED5 | psi-mi:“MI:0914”(association) | 0.350 |
| LHX1 | AIFM1 | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (96): TMED5 (Affinity Capture-MS), TMED5 (Affinity Capture-MS), TMED5 (Affinity Capture-MS), TMED5 (Affinity Capture-MS), TMED5 (Affinity Capture-MS), TMED5 (Affinity Capture-MS), TMED5 (Affinity Capture-MS), TMED5 (Affinity Capture-MS), TMED5 (Affinity Capture-MS), TMED5 (Proximity Label-MS), TMED5 (Affinity Capture-MS), CXCL9 (Two-hybrid), TMED5 (Affinity Capture-MS), TMED5 (Affinity Capture-MS), TMED5 (Affinity Capture-MS)
ESM2 similar proteins: A0A0G2KTI4, A0A7U2QYM2, A1CKN5, A5AAA1, A7SXK3, A8N0V8, B0CPJ0, B0WEV5, B2VVF0, F4JJJ3, O04015, O04226, O17528, P32296, P55014, P55015, P55016, P58421, P91926, Q0CNR4, Q13621, Q28BQ6, Q29N38, Q2KJ84, Q4HY20, Q5B5L5, Q5B971, Q5R809, Q69SA9, Q6AXN3, Q6AY25, Q78IS1, Q7QG73, Q870U4, Q948T9, Q949M9, Q94BV7, Q9CXE7, Q9DEB5, Q9HEK4
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, B3MTS8, B3NZM5, B4GMC3, B4HJV5, B4JG34, B4KB41, B4LYB8, B4NKL0, B4PVC6
SIGNOR signaling
1 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| TMED5 | “up-regulates activity” | TMED10 | binding |
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 95 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 |
|---|---|---|---|
| COPI-dependent Golgi-to-ER retrograde traffic | 7 | 12.5× | 3e-04 |
| COPI-mediated anterograde transport | 6 | 10.6× | 2e-03 |
| Transport of small molecules | 11 | 4.5× | 2e-03 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| retrograde vesicle-mediated transport, Golgi to endoplasmic reticulum | 6 | 25.3× | 3e-05 |
| endoplasmic reticulum to Golgi vesicle-mediated transport | 10 | 17.0× | 3e-07 |
| intracellular protein transport | 10 | 8.1× | 8e-05 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
23 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 13 |
| Likely benign | 0 |
| Benign | 2 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
1168 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 1:93156294:A:AC | donor_gain | 1.0000 |
| 1:93156295:C:CC | donor_gain | 1.0000 |
| 1:93156296:TGA:T | donor_loss | 1.0000 |
| 1:93156298:ACCAG:A | donor_loss | 1.0000 |
| 1:93156310:T:TA | donor_gain | 1.0000 |
| 1:93156479:CTACA:C | acceptor_gain | 1.0000 |
| 1:93156480:TACA:T | acceptor_gain | 1.0000 |
| 1:93156482:CA:C | acceptor_gain | 1.0000 |
| 1:93156484:C:CC | acceptor_gain | 1.0000 |
| 1:93160123:ACTT:A | donor_loss | 1.0000 |
| 1:93160125:TTACG:T | donor_loss | 1.0000 |
| 1:93160126:TACGT:T | donor_loss | 1.0000 |
| 1:93160127:A:AC | donor_gain | 1.0000 |
| 1:93160127:A:T | donor_loss | 1.0000 |
| 1:93160128:C:CA | donor_gain | 1.0000 |
| 1:93160128:CG:C | donor_gain | 1.0000 |
| 1:93160128:CGT:C | donor_gain | 1.0000 |
| 1:93160128:CGTG:C | donor_gain | 1.0000 |
| 1:93160128:CGTGT:C | donor_gain | 1.0000 |
| 1:93160225:AC:A | acceptor_gain | 1.0000 |
| 1:93160226:CC:C | acceptor_gain | 1.0000 |
| 1:93160227:C:CC | acceptor_gain | 1.0000 |
| 1:93180052:A:AC | donor_gain | 1.0000 |
| 1:93180053:C:CT | donor_gain | 1.0000 |
| 1:93154692:T:C | donor_gain | 0.9900 |
| 1:93154794:T:A | donor_gain | 0.9900 |
| 1:93156292:ATAC:A | donor_loss | 0.9900 |
| 1:93156293:TACT:T | donor_loss | 0.9900 |
| 1:93156294:ACT:A | donor_loss | 0.9900 |
| 1:93156295:CTGA:C | donor_gain | 0.9900 |
AlphaMissense
1522 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 1:93154806:C:G | R185P | 1.000 |
| 1:93154816:C:G | A182P | 1.000 |
| 1:93154812:C:G | R183P | 0.999 |
| 1:93156441:A:C | N110K | 0.999 |
| 1:93156441:A:T | N110K | 0.999 |
| 1:93154697:A:C | F221L | 0.998 |
| 1:93154697:A:T | F221L | 0.998 |
| 1:93154698:A:C | F221C | 0.998 |
| 1:93154699:A:G | F221L | 0.998 |
| 1:93154743:A:C | M206R | 0.998 |
| 1:93154765:A:G | S199P | 0.998 |
| 1:93154809:T:A | D184V | 0.998 |
| 1:93154825:C:G | A179P | 0.998 |
| 1:93154850:A:C | S170R | 0.998 |
| 1:93154850:A:T | S170R | 0.998 |
| 1:93154852:T:G | S170R | 0.998 |
| 1:93154860:A:G | L167P | 0.998 |
| 1:93156408:G:C | F121L | 0.998 |
| 1:93156408:G:T | F121L | 0.998 |
| 1:93156410:A:G | F121L | 0.998 |
| 1:93156417:C:A | K118N | 0.998 |
| 1:93156417:C:G | K118N | 0.998 |
| 1:93156432:G:C | S113R | 0.998 |
| 1:93156432:G:T | S113R | 0.998 |
| 1:93156434:T:G | S113R | 0.998 |
| 1:93156442:T:A | N110I | 0.998 |
| 1:93156448:A:G | F108S | 0.998 |
| 1:93156451:C:G | C107S | 0.998 |
| 1:93156451:C:T | C107Y | 0.998 |
| 1:93156452:A:G | C107R | 0.998 |
dbSNP variants (sampled 300 via entrez): RS1000097733 (1:93166418 C>T), RS1000173993 (1:93171555 T>C), RS1000270723 (1:93179014 C>G), RS1000439516 (1:93157742 C>T), RS1000444604 (1:93164988 G>A,C,T), RS1000479081 (1:93170371 G>A,C), RS1000506879 (1:93170528 T>C,G), RS1000749907 (1:93157051 A>G), RS1000880653 (1:93151326 A>G), RS1001120701 (1:93177099 A>T), RS1001150304 (1:93171309 A>C), RS1001188618 (1:93164090 A>G), RS1001359394 (1:93170969 G>A,C,T), RS1001473440 (1:93170796 A>C), RS1001530165 (1:93149539 C>T)
Disease associations
OMIM: gene MIM:616876 | 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 |
|---|---|---|
| GCST006005_1 | High density lipoprotein cholesterol levels | 1.000000e-10 |
EFO canonical traits (1, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0004612 | high density lipoprotein cholesterol measurement |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
37 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Valproic Acid | decreases methylation, affects cotreatment, increases expression | 5 |
| sodium arsenite | affects cotreatment, increases abundance, increases expression, decreases expression | 3 |
| chloropicrin | decreases expression, increases expression | 2 |
| entinostat | increases expression, affects cotreatment | 2 |
| Panobinostat | affects cotreatment, increases expression | 2 |
| Phenylmercuric Acetate | affects cotreatment, increases expression | 2 |
| Tobacco Smoke Pollution | increases expression | 2 |
| aristolochic acid I | decreases expression | 1 |
| bisphenol F | increases expression | 1 |
| TAK-243 | decreases sumoylation | 1 |
| methylmercuric chloride | increases expression | 1 |
| bisphenol A | affects expression | 1 |
| titanium dioxide | affects expression | 1 |
| mono-(2-ethylhexyl)phthalate | increases expression | 1 |
| manganese chloride | increases abundance, increases expression, affects cotreatment | 1 |
| 4-phenylbutyric acid | decreases expression, increases expression | 1 |
| 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide | affects cotreatment, increases expression | 1 |
| dorsomorphin | affects cotreatment, increases expression | 1 |
| jinfukang | decreases expression | 1 |
| Vorinostat | increases expression | 1 |
| Acetaminophen | increases expression | 1 |
| Arsenic | affects cotreatment, increases abundance, increases expression | 1 |
| Cisplatin | decreases expression | 1 |
| Clorgyline | increases expression | 1 |
| Formaldehyde | decreases expression | 1 |
| Ivermectin | decreases expression | 1 |
| Manganese | affects cotreatment, increases abundance, increases expression | 1 |
| Plant Oils | increases expression | 1 |
| Dihydrotestosterone | increases expression | 1 |
| Tunicamycin | increases expression | 1 |
Cellosaurus cell lines
2 cell lines: 2 cancer cell line
First 10 cell lines (id-ordered, not curated):
| Cellosaurus | Name | Category | Sex |
|---|---|---|---|
| CVCL_TS72 | HAP1 TMED5 (-) 1 | Cancer cell line | Male |
| CVCL_XU33 | HAP1 TMED5 (-) 2 | 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.