ZDHHC18
gene geneOn this page
Also known as DKFZp667O2416
Summary
ZDHHC18 (zDHHC palmitoyltransferase 18, HGNC:20712) is a protein-coding gene on chromosome 1p36.11, encoding Palmitoyltransferase ZDHHC18 (Q9NUE0). Palmitoyltransferase that catalyzes the addition of palmitate onto various protein substrates, such as CGAS, HRAS and LCK.
Enables protein-cysteine S-palmitoyltransferase activity. Involved in negative regulation of cGAS/STING signaling pathway; negative regulation of innate immune response; and peptidyl-L-cysteine S-palmitoylation. Located in cytosol. Is active in Golgi apparatus.
Source: NCBI Gene 84243 — RefSeq curated summary.
At a glance
- GWAS associations: 8
- Clinical variants (ClinVar): 47 total
- MANE Select transcript:
NM_032283
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:20712 |
| Approved symbol | ZDHHC18 |
| Name | zDHHC palmitoyltransferase 18 |
| Location | 1p36.11 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | DKFZp667O2416 |
| Ensembl gene | ENSG00000204160 |
| Ensembl biotype | protein_coding |
| OMIM | 620963 |
| Entrez | 84243 |
Gene structure
Transcript identifiers
Ensembl transcripts: 7 — 6 protein_coding, 1 protein_coding_CDS_not_defined
ENST00000374141, ENST00000374142, ENST00000478902, ENST00000488397, ENST00000534643, ENST00000920892, ENST00000920893
RefSeq mRNA: 1 — MANE Select: NM_032283
NM_032283
CCDS: CCDS30650
Canonical transcript exons
ENST00000374142 — 8 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001462570 | 26853726 | 26857604 |
| ENSE00001462573 | 26850558 | 26850606 |
| ENSE00001462576 | 26852753 | 26852865 |
| ENSE00001462580 | 26850301 | 26850438 |
| ENSE00001462582 | 26848608 | 26848757 |
| ENSE00001462584 | 26826688 | 26827139 |
| ENSE00003557274 | 26832447 | 26832607 |
| ENSE00003657240 | 26851129 | 26851231 |
Expression profiles
Bgee: expression breadth ubiquitous, 231 present calls, max score 96.63.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 43.8695 / max 2762.2297, expressed in 1811 samples.
FANTOM5 promoters (7 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 1656 | 39.8662 | 1811 |
| 1659 | 1.1730 | 383 |
| 1663 | 0.7896 | 52 |
| 1658 | 0.7494 | 356 |
| 1657 | 0.6329 | 192 |
| 1664 | 0.3330 | 23 |
| 1662 | 0.3255 | 33 |
Top tissues by expression
275 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| blood | UBERON:0000178 | 96.63 | gold quality |
| granulocyte | CL:0000094 | 94.63 | gold quality |
| lower esophagus mucosa | UBERON:0035834 | 91.95 | gold quality |
| spleen | UBERON:0002106 | 90.92 | gold quality |
| secondary oocyte | CL:0000655 | 89.30 | gold quality |
| stromal cell of endometrium | CL:0002255 | 89.23 | gold quality |
| esophagus mucosa | UBERON:0002469 | 88.78 | gold quality |
| lymph node | UBERON:0000029 | 88.75 | gold quality |
| right hemisphere of cerebellum | UBERON:0014890 | 88.62 | gold quality |
| vermiform appendix | UBERON:0001154 | 88.53 | gold quality |
| gall bladder | UBERON:0002110 | 88.04 | gold quality |
| bone marrow | UBERON:0002371 | 87.96 | gold quality |
| minor salivary gland | UBERON:0001830 | 87.95 | gold quality |
| cerebellar hemisphere | UBERON:0002245 | 87.94 | gold quality |
| cortical plate | UBERON:0005343 | 87.92 | gold quality |
| bone marrow cell | CL:0002092 | 87.87 | gold quality |
| cerebellar cortex | UBERON:0002129 | 87.84 | gold quality |
| rectum | UBERON:0001052 | 87.81 | gold quality |
| leukocyte | CL:0000738 | 87.56 | gold quality |
| right frontal lobe | UBERON:0002810 | 87.34 | gold quality |
| monocyte | CL:0000576 | 86.92 | gold quality |
| apex of heart | UBERON:0002098 | 86.87 | gold quality |
| mononuclear cell | CL:0000842 | 86.82 | gold quality |
| right lobe of liver | UBERON:0001114 | 86.79 | gold quality |
| saliva-secreting gland | UBERON:0001044 | 86.76 | gold quality |
| left lobe of thyroid gland | UBERON:0001120 | 86.71 | gold quality |
| esophagus | UBERON:0001043 | 86.69 | gold quality |
| mouth mucosa | UBERON:0003729 | 86.68 | gold quality |
| right lobe of thyroid gland | UBERON:0001119 | 86.66 | gold quality |
| smooth muscle tissue | UBERON:0001135 | 86.65 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 4.33 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
69 targeting ZDHHC18, 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-432-3P | 100.00 | 67.86 | 705 |
| HSA-MIR-8485 | 100.00 | 77.57 | 4731 |
| HSA-MIR-3163 | 100.00 | 77.23 | 8605 |
| HSA-MIR-19A-3P | 99.98 | 75.33 | 2762 |
| HSA-MIR-19B-3P | 99.98 | 75.44 | 2754 |
| HSA-MIR-1468-3P | 99.96 | 72.74 | 3797 |
| HSA-MIR-6721-5P | 99.93 | 68.92 | 2981 |
| HSA-MIR-1297 | 99.91 | 73.41 | 3162 |
| HSA-MIR-4731-5P | 99.89 | 67.23 | 2537 |
| HSA-MIR-4492 | 99.87 | 68.25 | 3611 |
| HSA-MIR-221-5P | 99.86 | 65.45 | 1052 |
| HSA-MIR-8073 | 99.86 | 65.21 | 1118 |
| HSA-MIR-629-3P | 99.85 | 67.99 | 1875 |
| HSA-MIR-6739-5P | 99.80 | 67.87 | 2806 |
| HSA-MIR-4668-5P | 99.79 | 70.58 | 3782 |
| HSA-MIR-26A-5P | 99.78 | 73.52 | 2303 |
| HSA-MIR-26B-5P | 99.78 | 73.51 | 2305 |
| HSA-MIR-4517 | 99.76 | 69.19 | 1867 |
| HSA-MIR-6764-5P | 99.75 | 67.89 | 2304 |
| HSA-MIR-6733-5P | 99.74 | 67.94 | 2759 |
| HSA-MIR-4465 | 99.71 | 72.56 | 2096 |
| HSA-MIR-548AU-3P | 99.70 | 68.22 | 1373 |
| HSA-MIR-7161-5P | 99.68 | 68.92 | 1592 |
| HSA-MIR-6512-3P | 99.65 | 66.07 | 1468 |
| HSA-MIR-6720-5P | 99.65 | 66.22 | 1459 |
| HSA-MIR-548U | 99.65 | 67.78 | 1463 |
| HSA-MIR-24-3P | 99.59 | 69.97 | 1934 |
| HSA-MIR-4310 | 99.59 | 68.84 | 2527 |
| HSA-MIR-1915-3P | 99.58 | 66.79 | 1988 |
| HSA-MIR-762 | 99.58 | 66.61 | 1994 |
Cross-species orthologs
14 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | zdhhc18a | ENSDARG00000069807 |
| danio_rerio | zdhhc18b | ENSDARG00000105034 |
| mus_musculus | Zdhhc18 | ENSMUSG00000037553 |
| rattus_norvegicus | Zdhhc18 | ENSRNOG00000058156 |
| drosophila_melanogaster | Dnz1 | FBGN0027453 |
| drosophila_melanogaster | CG1407 | FBGN0033474 |
| drosophila_melanogaster | CG17287 | FBGN0034202 |
| caenorhabditis_elegans | dhhc-7 | WBGENE00007637 |
| caenorhabditis_elegans | dhhc-12 | WBGENE00010323 |
| caenorhabditis_elegans | dhhc-2 | WBGENE00012948 |
| caenorhabditis_elegans | WBGENE00014075 | |
| caenorhabditis_elegans | WBGENE00016620 | |
| caenorhabditis_elegans | WBGENE00020066 | |
| caenorhabditis_elegans | dhhc-11 | WBGENE00020694 |
Paralogs (17): ZDHHC6 (ENSG00000023041), ZDHHC15 (ENSG00000102383), ZDHHC2 (ENSG00000104219), ZDHHC4 (ENSG00000136247), ZDHHC7 (ENSG00000153786), ZDHHC1 (ENSG00000159714), ZDHHC12 (ENSG00000160446), ZDHHC3 (ENSG00000163812), ZDHHC19 (ENSG00000163958), ZDHHC14 (ENSG00000175048), ZDHHC21 (ENSG00000175893), ZDHHC22 (ENSG00000177108), ZDHHC20 (ENSG00000180776), ZDHHC23 (ENSG00000184307), ZDHHC9 (ENSG00000188706), ZDHHC11 (ENSG00000188818), ZDHHC11B (ENSG00000206077)
Protein
Protein identifiers
Palmitoyltransferase ZDHHC18 — Q9NUE0 (reviewed: Q9NUE0)
Alternative names: DHHC domain-containing cysteine-rich protein 18, Zinc finger DHHC domain-containing protein 18
All UniProt accessions (3): E9PJS3, Q9NUE0, H0YEN1
UniProt curated annotations — full annotation on UniProt →
Function. Palmitoyltransferase that catalyzes the addition of palmitate onto various protein substrates, such as CGAS, HRAS and LCK. Acts as a negative regulator of the cGAS-STING pathway be mediating palmitoylation and inactivation of CGAS. May also have a palmitoyltransferase activity toward the beta-2 adrenergic receptor/ADRB2 and therefore regulate G protein-coupled receptor signaling.
Subcellular location. Golgi apparatus membrane.
Tissue specificity. Widely expressed.
Domain organisation. The DHHC domain is required for palmitoyltransferase activity.
Similarity. Belongs to the DHHC palmitoyltransferase family. ERF2/ZDHHC9 subfamily.
Isoforms (2)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q9NUE0-1 | 1 | yes |
| Q9NUE0-2 | 2 |
RefSeq proteins (1): NP_115659* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR001594 | Palmitoyltrfase_DHHC | Domain |
| IPR039859 | PFA4/ZDH16/20/ERF2-like | Family |
Pfam: PF01529
Catalyzed reactions (Rhea), 1 shown:
- L-cysteinyl-[protein] + hexadecanoyl-CoA = S-hexadecanoyl-L-cysteinyl-[protein] + CoA (RHEA:36683)
UniProt features (19 total): topological domain 5, transmembrane region 4, compositionally biased region 3, region of interest 2, chain 1, domain 1, active site 1, modified residue 1, splice variant 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q9NUE0-F1 | 81.50 | 0.65 |
Functional residue map
Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.
Catalytic / active sites (1): 222 (s-palmitoyl cysteine intermediate)
Post-translational modifications (1): 19
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 174 (showing top):
GOBP_LIPOPROTEIN_METABOLIC_PROCESS, GOBP_PROTEIN_TARGETING, GOBP_NEGATIVE_REGULATION_OF_INNATE_IMMUNE_RESPONSE, GOBP_PEPTIDYL_CYSTEINE_MODIFICATION, GOBP_NEGATIVE_REGULATION_OF_INTRACELLULAR_SIGNAL_TRANSDUCTION, GOBP_NEGATIVE_REGULATION_OF_RESPONSE_TO_BIOTIC_STIMULUS, GOBP_POSITIVE_REGULATION_OF_RESPONSE_TO_EXTERNAL_STIMULUS, GOBP_REGULATION_OF_IMMUNE_RESPONSE, GOBP_PROTEIN_TARGETING_TO_MEMBRANE, GOBP_DEFENSE_RESPONSE_TO_OTHER_ORGANISM, FOSTER_TOLERANT_MACROPHAGE_DN, RUTELLA_RESPONSE_TO_CSF2RB_AND_IL4_UP, GOBP_LIPOPROTEIN_BIOSYNTHETIC_PROCESS, RUTELLA_RESPONSE_TO_HGF_VS_CSF2RB_AND_IL4_DN, GOBP_REGULATION_OF_RESPONSE_TO_STRESS
GO Biological Process (8): protein targeting to membrane (GO:0006612), intracellular protein localization (GO:0008104), peptidyl-L-cysteine S-palmitoylation (GO:0018230), innate immune response (GO:0045087), negative regulation of innate immune response (GO:0045824), negative regulation of cGAS/STING signaling pathway (GO:0160049), immune system process (GO:0002376), cGAS/STING signaling pathway (GO:0140896)
GO Molecular Function (4): palmitoyltransferase activity (GO:0016409), protein-cysteine S-palmitoyltransferase activity (GO:0019706), transferase activity (GO:0016740), acyltransferase activity (GO:0016746)
GO Cellular Component (5): Golgi membrane (GO:0000139), endoplasmic reticulum (GO:0005783), Golgi apparatus (GO:0005794), cytosol (GO:0005829), membrane (GO:0016020)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cytoplasm | 3 |
| endomembrane system | 2 |
| intracellular membrane-bounded organelle | 2 |
| cellular anatomical structure | 2 |
| protein targeting | 1 |
| establishment of protein localization to membrane | 1 |
| macromolecule localization | 1 |
| peptidyl-S-diacylglycerol-L-cysteine biosynthetic process from peptidyl-cysteine | 1 |
| protein palmitoylation | 1 |
| immune response | 1 |
| defense response to symbiont | 1 |
| negative regulation of response to biotic stimulus | 1 |
| negative regulation of defense response | 1 |
| negative regulation of response to external stimulus | 1 |
| innate immune response | 1 |
| regulation of innate immune response | 1 |
| negative regulation of immune response | 1 |
| negative regulation of cytoplasmic pattern recognition receptor signaling pathway | 1 |
| cGAS/STING signaling pathway | 1 |
| biological_process | 1 |
| cytoplasmic pattern recognition receptor signaling pathway | 1 |
| acyltransferase activity, transferring groups other than amino-acyl groups | 1 |
| palmitoyltransferase activity | 1 |
| protein-cysteine S-acyltransferase activity | 1 |
| catalytic activity | 1 |
| transferase activity | 1 |
| Golgi apparatus | 1 |
| bounding membrane of organelle | 1 |
Protein interactions and networks
STRING
620 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| ZDHHC18 | ZDHHC22 | Q8N966 | 510 |
| ZDHHC18 | FAM110A | Q9BQ89 | 475 |
| ZDHHC18 | LYPLA2 | O95372 | 414 |
| ZDHHC18 | PPT2 | Q9UMR5 | 411 |
| ZDHHC18 | LYPLA1 | O75608 | 402 |
| ZDHHC18 | GOLGA7 | Q7Z5G4 | 394 |
| ZDHHC18 | TMEM86A | Q8N2M4 | 372 |
| ZDHHC18 | KCTD3 | Q9Y597 | 366 |
| ZDHHC18 | ZDHHC24 | Q6UX98 | 349 |
| ZDHHC18 | ZDHHC13 | Q8IUH4 | 347 |
| ZDHHC18 | PALM | O75781 | 324 |
| ZDHHC18 | TEKT4 | Q8WW24 | 319 |
| ZDHHC18 | PPT1 | P50897 | 317 |
| ZDHHC18 | ZDHHC17 | Q8IUH5 | 316 |
| ZDHHC18 | RNF144A | P50876 | 315 |
IntAct
57 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| LPAR1 | TMEM223 | psi-mi:“MI:0914”(association) | 0.530 |
| IPPK | TMEM223 | psi-mi:“MI:0914”(association) | 0.530 |
| KLRG2 | GXYLT2 | psi-mi:“MI:0914”(association) | 0.530 |
| IL13RA2 | METTL15 | psi-mi:“MI:0914”(association) | 0.530 |
| GDPD5 | GOLIM4 | psi-mi:“MI:0914”(association) | 0.530 |
| SPINT2 | UPK3BL1 | psi-mi:“MI:0914”(association) | 0.530 |
| ZNRF4 | UPK3BL1 | psi-mi:“MI:0914”(association) | 0.530 |
| ASGR2 | MT-CO1 | psi-mi:“MI:0914”(association) | 0.530 |
| IL9R | RETSAT | psi-mi:“MI:0914”(association) | 0.530 |
| PCDHAC2 | TMEM223 | psi-mi:“MI:0914”(association) | 0.530 |
| LPAR1 | TMEM120B | psi-mi:“MI:0914”(association) | 0.530 |
| SLC1A5 | GPR89A | psi-mi:“MI:0914”(association) | 0.530 |
| TPCN2 | AP3B1 | psi-mi:“MI:0914”(association) | 0.530 |
| NRAS | ESYT2 | psi-mi:“MI:2364”(proximity) | 0.480 |
| UPK1A | TMEM223 | psi-mi:“MI:0914”(association) | 0.350 |
| ADGRE5 | TMEM223 | psi-mi:“MI:0914”(association) | 0.350 |
| PCDHAC2 | TMEM223 | psi-mi:“MI:0914”(association) | 0.350 |
| DLK2 | SLC22A23 | psi-mi:“MI:0914”(association) | 0.350 |
| TPCN2 | DDX11L8 | psi-mi:“MI:0914”(association) | 0.350 |
| SLC1A5 | GPR89A | psi-mi:“MI:0914”(association) | 0.350 |
| GPM6A | HAX1 | psi-mi:“MI:0914”(association) | 0.350 |
| SLC34A2 | SYNGR2 | psi-mi:“MI:0914”(association) | 0.350 |
| TMEM223 | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (102): ZDHHC18 (Affinity Capture-MS), ZDHHC18 (Affinity Capture-MS), ZDHHC18 (Affinity Capture-MS), ZDHHC18 (Affinity Capture-MS), ZDHHC18 (Affinity Capture-MS), ZDHHC18 (Affinity Capture-MS), ZDHHC18 (Affinity Capture-MS), ZDHHC18 (Affinity Capture-MS), ZDHHC18 (Affinity Capture-MS), ZDHHC18 (Affinity Capture-MS), ZDHHC18 (Affinity Capture-MS), ZDHHC18 (Affinity Capture-MS), ZDHHC18 (Affinity Capture-MS), ZDHHC18 (Affinity Capture-MS), ZDHHC18 (Affinity Capture-MS)
ESM2 similar proteins: A0A0R4IF99, B3DN87, E7EZI4, E7F4Z4, E7FH11, E9QCD3, F1Q7H8, F1QHM7, F1R013, O74384, O80685, P0C7U3, P59267, P59268, Q06551, Q0VC89, Q0WQK2, Q14AK4, Q2TGJ1, Q2TGJ4, Q3EBC2, Q4I1J3, Q4WN54, Q58DA8, Q5BLG4, Q5PNZ1, Q5R5J8, Q5W0Z9, Q5Y5T1, Q5Y5T2, Q5Y5T3, Q6C890, Q6DR03, Q76IC6, Q7ZVN4, Q8BGJ0, Q8BQQ1, Q8I0G4, Q8IYP9, Q8IZN3
Diamond homologs: A0A0R4IDP3, A2CEX1, A2VEY9, A5WVX9, B3DN87, C8VCL4, E1BLT8, E7F021, E7F587, E7FBS9, E7FH11, E9PTT0, E9QCD3, F1Q7H8, F1QAM1, F1QHM7, F1QX91, F1QXD3, F1R013, F1RE57, J9VJ99, O60069, O74384, O80685, P42836, P59267, P59268, Q04629, Q0VC89, Q10L01, Q2TGJ1, Q2TGJ4, Q2TGK3, Q2THW7, Q2THW8, Q2THW9, Q2THX0, Q2THX1, Q4R690, Q4WZL8
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
47 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 38 |
| Likely benign | 0 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
1268 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 1:26827138:GA:G | donor_gain | 1.0000 |
| 1:26827140:G:GG | donor_gain | 1.0000 |
| 1:26832445:A:AG | acceptor_gain | 1.0000 |
| 1:26832446:G:GG | acceptor_gain | 1.0000 |
| 1:26832446:GCT:G | acceptor_gain | 1.0000 |
| 1:26832603:GATCG:G | donor_gain | 1.0000 |
| 1:26832604:A:G | donor_gain | 1.0000 |
| 1:26848604:TCAG:T | acceptor_loss | 1.0000 |
| 1:26848605:CA:C | acceptor_loss | 1.0000 |
| 1:26848606:A:AG | acceptor_gain | 1.0000 |
| 1:26848606:A:C | acceptor_loss | 1.0000 |
| 1:26848607:G:GA | acceptor_gain | 1.0000 |
| 1:26848607:GA:G | acceptor_gain | 1.0000 |
| 1:26848607:GAC:G | acceptor_gain | 1.0000 |
| 1:26848607:GACA:G | acceptor_gain | 1.0000 |
| 1:26848607:GACAA:G | acceptor_gain | 1.0000 |
| 1:26848754:GTGG:G | donor_gain | 1.0000 |
| 1:26848755:TGG:T | donor_gain | 1.0000 |
| 1:26848756:GG:G | donor_gain | 1.0000 |
| 1:26848756:GGG:G | donor_gain | 1.0000 |
| 1:26848757:GG:G | donor_gain | 1.0000 |
| 1:26848758:G:GG | donor_gain | 1.0000 |
| 1:26848758:GT:G | donor_loss | 1.0000 |
| 1:26850434:GTTGC:G | donor_gain | 1.0000 |
| 1:26850437:GC:G | donor_gain | 1.0000 |
| 1:26850439:G:GG | donor_gain | 1.0000 |
| 1:26827135:TTTGA:T | donor_gain | 0.9900 |
| 1:26827136:TTGA:T | donor_gain | 0.9900 |
| 1:26827136:TTGAG:T | donor_loss | 0.9900 |
| 1:26827137:TGA:T | donor_gain | 0.9900 |
AlphaMissense
2517 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 1:26832554:G:A | G148E | 1.000 |
| 1:26848691:T:A | C194S | 1.000 |
| 1:26848691:T:C | C194R | 1.000 |
| 1:26848692:G:A | C194Y | 1.000 |
| 1:26848692:G:C | C194S | 1.000 |
| 1:26848692:G:T | C194F | 1.000 |
| 1:26848693:C:G | C194W | 1.000 |
| 1:26848700:T:A | C197S | 1.000 |
| 1:26848700:T:C | C197R | 1.000 |
| 1:26848701:G:A | C197Y | 1.000 |
| 1:26848701:G:C | C197S | 1.000 |
| 1:26848701:G:T | C197F | 1.000 |
| 1:26848702:C:G | C197W | 1.000 |
| 1:26848712:C:G | R201G | 1.000 |
| 1:26848730:C:A | H207N | 1.000 |
| 1:26848730:C:G | H207D | 1.000 |
| 1:26848732:C:A | H207Q | 1.000 |
| 1:26848732:C:G | H207Q | 1.000 |
| 1:26848733:T:A | C208S | 1.000 |
| 1:26848733:T:C | C208R | 1.000 |
| 1:26848734:G:A | C208Y | 1.000 |
| 1:26848734:G:C | C208S | 1.000 |
| 1:26848734:G:T | C208F | 1.000 |
| 1:26848735:C:G | C208W | 1.000 |
| 1:26848742:T:C | C211R | 1.000 |
| 1:26848743:G:A | C211Y | 1.000 |
| 1:26848746:A:T | D212V | 1.000 |
| 1:26848750:C:A | N213K | 1.000 |
| 1:26848750:C:G | N213K | 1.000 |
| 1:26848751:T:A | C214S | 1.000 |
dbSNP variants (sampled 300 via entrez): RS1000017581 (1:26830142 T>C), RS1000054474 (1:26834942 C>A,T), RS1000095457 (1:26825549 T>C), RS1000104672 (1:26834502 G>T), RS1000225394 (1:26836118 A>C,G), RS1000235369 (1:26828623 T>C), RS1000398699 (1:26854121 C>T), RS1000519077 (1:26847044 C>T), RS1000539806 (1:26826752 G>A,C,T), RS1000574336 (1:26829421 C>T), RS1000652531 (1:26841592 C>A), RS1000683191 (1:26835883 C>G), RS1000755310 (1:26836200 C>T), RS1000762348 (1:26846931 C>T), RS1000770926 (1:26854513 G>A)
Disease associations
OMIM: gene MIM:620963 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
8 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST004250_25 | Alanine aminotransferase (ALT) levels after remission induction therapy in actute lymphoblastic leukemia (ALL) | 1.000000e-07 |
| GCST007267_99 | Systolic blood pressure | 1.000000e-09 |
| GCST007611_16 | Chronic obstructive pulmonary disease or high blood pressure (pleiotropy) | 6.000000e-12 |
| GCST007615_1 | C-reactive protein levels | 5.000000e-10 |
| GCST007615_5 | C-reactive protein levels | 5.000000e-11 |
| GCST008059_209 | Estimated glomerular filtration rate | 2.000000e-08 |
| GCST90002394_131 | Monocyte percentage of white cells | 2.000000e-31 |
| GCST90013406_246 | Liver enzyme levels (alkaline phosphatase) | 1.000000e-19 |
EFO canonical traits (5, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0007965 | response to combination chemotherapy |
| EFO:0006335 | systolic blood pressure |
| EFO:0004458 | C-reactive protein measurement |
| EFO:0007989 | monocyte percentage of leukocytes |
| EFO:0004533 | alkaline phosphatase measurement |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
41 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Cadmium Chloride | increases palmitoylation, decreases expression, increases expression, decreases reaction, increases abundance | 4 |
| bisphenol A | decreases methylation, affects expression, affects cotreatment | 2 |
| sodium arsenite | increases expression | 2 |
| Cadmium | increases palmitoylation, decreases expression, decreases reaction, increases abundance | 2 |
| Aflatoxin B1 | decreases methylation, increases expression | 2 |
| Particulate Matter | increases methylation, decreases expression, increases abundance | 2 |
| aristolochic acid I | increases expression | 1 |
| FR900359 | increases phosphorylation | 1 |
| triphenyl phosphate | affects expression | 1 |
| beta-lapachone | increases expression | 1 |
| tris(1,3-dichloro-2-propyl)phosphate | increases expression | 1 |
| 2-bromopalmitate | increases abundance, increases palmitoylation, decreases reaction | 1 |
| zinc chromate | decreases expression, increases abundance | 1 |
| cupric chloride | increases expression | 1 |
| nickel sulfate | increases expression | 1 |
| evodiamine | increases expression | 1 |
| di-n-butylphosphoric acid | affects expression | 1 |
| chromium hexavalent ion | decreases expression, increases abundance | 1 |
| CGP 52608 | affects binding, increases reaction | 1 |
| K 7174 | increases expression | 1 |
| 4-(4-((5-(4,5-dimethyl-2-nitrophenyl)-2-furanyl)methylene)-4,5-dihydro-3-methyl-5-oxo-1H-pyrazol-1-yl)benzoic acid | decreases expression | 1 |
| Resveratrol | affects cotreatment, decreases expression | 1 |
| Fulvestrant | affects cotreatment, decreases methylation | 1 |
| Acetaminophen | increases expression | 1 |
| Air Pollutants | affects expression, increases abundance | 1 |
| Vehicle Emissions | decreases expression, increases abundance | 1 |
| Caffeine | affects phosphorylation | 1 |
| Doxorubicin | decreases expression | 1 |
| N-Nitrosopyrrolidine | increases expression | 1 |
| Ozone | affects expression, increases abundance | 1 |
Cellosaurus cell lines
2 cell lines: 2 cancer cell line
First 10 cell lines (id-ordered, not curated):
| Cellosaurus | Name | Category | Sex |
|---|---|---|---|
| CVCL_TY78 | HAP1 ZDHHC18 (-) 1 | Cancer cell line | Male |
| CVCL_TY79 | HAP1 ZDHHC18 (-) 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.