ZDHHC11
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Also known as ZNF399FLJ13153
Summary
ZDHHC11 (zDHHC palmitoyltransferase 11, HGNC:19158) is a protein-coding gene on chromosome 5p15.33, encoding Palmitoyltransferase ZDHHC11 (Q9H8X9). Endoplasmic reticulum-localized palmitoyltransferase that could catalyze the addition of palmitate onto various protein substrates and be involved in a variety of cellular processes.
Enables signaling adaptor activity. Involved in antiviral innate immune response and positive regulation of defense response to virus by host. Located in endoplasmic reticulum.
Source: NCBI Gene 79844 — RefSeq curated summary.
At a glance
- GWAS associations: 3
- Clinical variants (ClinVar): 143 total — 3 pathogenic
- MANE Select transcript:
NM_024786
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:19158 |
| Approved symbol | ZDHHC11 |
| Name | zDHHC palmitoyltransferase 11 |
| Location | 5p15.33 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | ZNF399, FLJ13153 |
| Ensembl gene | ENSG00000188818 |
| Ensembl biotype | protein_coding |
| Entrez | 79844 |
Gene structure
Transcript identifiers
Ensembl transcripts: 12 — 4 protein_coding, 4 protein_coding_CDS_not_defined, 3 retained_intron, 1 nonsense_mediated_decay
ENST00000283441, ENST00000503758, ENST00000503880, ENST00000505815, ENST00000507800, ENST00000508951, ENST00000511193, ENST00000511539, ENST00000512190, ENST00000512775, ENST00000685990, ENST00000688955
RefSeq mRNA: 2 — MANE Select: NM_024786
NM_001393492, NM_024786
CCDS: CCDS3857
Canonical transcript exons
ENST00000283441 — 13 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001316958 | 850381 | 850986 |
| ENSE00001399989 | 795605 | 796580 |
| ENSE00001646042 | 837365 | 837480 |
| ENSE00003470064 | 819525 | 819612 |
| ENSE00003485145 | 833773 | 833807 |
| ENSE00003508915 | 840495 | 840650 |
| ENSE00003531690 | 848482 | 848660 |
| ENSE00003551627 | 847514 | 847615 |
| ENSE00003555795 | 801100 | 801164 |
| ENSE00003566052 | 814761 | 814795 |
| ENSE00003624085 | 821861 | 821895 |
| ENSE00003641339 | 825164 | 825251 |
| ENSE00003655036 | 843600 | 843724 |
Expression profiles
Bgee: expression breadth ubiquitous, 251 present calls, max score 98.14.
Top tissues by expression
255 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| right uterine tube | UBERON:0001302 | 98.14 | gold quality |
| cardiac muscle of right atrium | UBERON:0003379 | 94.86 | silver quality |
| right hemisphere of cerebellum | UBERON:0014890 | 94.57 | gold quality |
| cerebellar hemisphere | UBERON:0002245 | 94.15 | gold quality |
| cerebellar cortex | UBERON:0002129 | 94.09 | gold quality |
| cerebellum | UBERON:0002037 | 93.51 | gold quality |
| cerebellar vermis | UBERON:0004720 | 92.76 | gold quality |
| lateral globus pallidus | UBERON:0002476 | 92.74 | gold quality |
| myocardium | UBERON:0002349 | 91.79 | silver quality |
| kidney epithelium | UBERON:0004819 | 91.52 | silver quality |
| cardiac atrium | UBERON:0002081 | 91.34 | gold quality |
| substantia nigra pars reticulata | UBERON:0001966 | 91.21 | gold quality |
| pituitary gland | UBERON:0000007 | 91.19 | gold quality |
| right atrium auricular region | UBERON:0006631 | 91.14 | gold quality |
| tendon of biceps brachii | UBERON:0008188 | 90.81 | gold quality |
| lateral nuclear group of thalamus | UBERON:0002736 | 90.49 | gold quality |
| adenohypophysis | UBERON:0002196 | 90.38 | gold quality |
| upper arm skin | UBERON:0004263 | 90.24 | silver quality |
| primary visual cortex | UBERON:0002436 | 89.90 | gold quality |
| vena cava | UBERON:0004087 | 89.89 | gold quality |
| right frontal lobe | UBERON:0002810 | 89.84 | gold quality |
| apex of heart | UBERON:0002098 | 89.69 | gold quality |
| inferior vagus X ganglion | UBERON:0005363 | 89.46 | gold quality |
| occipital lobe | UBERON:0002021 | 89.26 | gold quality |
| subthalamic nucleus | UBERON:0001906 | 89.17 | gold quality |
| substantia nigra pars compacta | UBERON:0001965 | 89.16 | gold quality |
| ventral tegmental area | UBERON:0002691 | 89.13 | gold quality |
| Brodmann (1909) area 9 | UBERON:0013540 | 88.96 | gold quality |
| dorsal plus ventral thalamus | UBERON:0001897 | 88.76 | gold quality |
| bronchial epithelial cell | CL:0002328 | 88.74 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 4.22 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
35 targeting ZDHHC11, 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-4455 | 100.00 | 65.48 | 1587 |
| HSA-MIR-2116-3P | 99.74 | 64.32 | 889 |
| HSA-MIR-378G | 99.71 | 64.90 | 1106 |
| HSA-MIR-892A | 99.54 | 68.16 | 1141 |
| HSA-MIR-4437 | 99.52 | 65.29 | 1266 |
| HSA-MIR-4318 | 99.38 | 66.94 | 1505 |
| HSA-MIR-5580-5P | 99.38 | 66.96 | 1139 |
| HSA-MIR-6853-3P | 99.36 | 70.79 | 1558 |
| HSA-MIR-3678-3P | 99.31 | 67.10 | 1432 |
| HSA-MIR-4254 | 99.11 | 65.15 | 1315 |
| HSA-MIR-4478 | 99.07 | 65.16 | 2320 |
| HSA-MIR-6737-3P | 98.95 | 68.56 | 1577 |
| HSA-MIR-7157-3P | 98.95 | 68.70 | 1582 |
| HSA-MIR-5008-3P | 98.73 | 67.50 | 1433 |
| HSA-MIR-7977 | 98.65 | 66.18 | 2590 |
| HSA-MIR-934 | 98.49 | 70.44 | 581 |
| HSA-MIR-6764-3P | 98.44 | 67.64 | 1153 |
| HSA-MIR-6824-3P | 98.44 | 67.62 | 1154 |
| HSA-MIR-6792-5P | 98.39 | 68.16 | 1330 |
| HSA-MIR-3929 | 98.32 | 65.58 | 1026 |
| HSA-MIR-3132 | 97.96 | 67.91 | 711 |
| HSA-MIR-193B-5P | 97.91 | 65.88 | 837 |
| HSA-MIR-3661 | 97.83 | 67.30 | 705 |
| HSA-MIR-1278 | 97.75 | 67.55 | 628 |
| HSA-MIR-6855-5P | 97.51 | 66.03 | 830 |
| HSA-MIR-4797-3P | 97.48 | 67.14 | 989 |
| HSA-MIR-4693-5P | 97.35 | 67.02 | 1234 |
| HSA-MIR-7106-3P | 97.33 | 65.33 | 644 |
| HSA-MIR-4712-5P | 97.24 | 67.79 | 775 |
| HSA-MIR-770-5P | 97.24 | 68.10 | 758 |
Literature-anchored findings (GeneRIF, showing 5)
- data suggest that gain of 5p15.33 (TPPP and ZDHHC11) may become a potential biomarker identifying high-risk patients with disease progression in bladder cancer. (PMID:18025801)
- In silico screening for palmitoyl substrates reveals a role for DHHC1/3/10 (zDHHC1/3/11)-mediated neurochondrin palmitoylation in its targeting to Rab5-positive endosomes. (PMID:23687301)
- First, MYC downregulates miR-150 to unleash MYB from the miR-150-mediated repression. Second, MYC induces ZDHHC11 and ZDHHC11B that further ensures the maintenance of high MYB levels (PMID:28331227)
- ZDHHC11 and ZDHHC11B are novel targets of miR-150 with a key role in maintaining elevated levels of the MYB oncogene required for the high proliferation rate of Burkitt lymphoma cells. (PMID:28331227)
- Circular ZDHHC11 supports Burkitt lymphoma growth independent of its miR-150 binding capacity. (PMID:38627588)
Cross-species orthologs
12 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | zdhhc11 | ENSDARG00000076202 |
| mus_musculus | Zdhhc11 | ENSMUSG00000069189 |
| rattus_norvegicus | Zdhhc11 | ENSRNOG00000039743 |
| 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 |
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), ZDHHC18 (ENSG00000204160), ZDHHC11B (ENSG00000206077)
Protein
Protein identifiers
Palmitoyltransferase ZDHHC11 — Q9H8X9 (reviewed: Q9H8X9)
Alternative names: Zinc finger DHHC domain-containing protein 11, Zinc finger protein 399
All UniProt accessions (4): A0A8I5KQG6, D6RE92, Q9H8X9, H0Y9D0
UniProt curated annotations — full annotation on UniProt →
Function. Endoplasmic reticulum-localized palmitoyltransferase that could catalyze the addition of palmitate onto various protein substrates and be involved in a variety of cellular processes. Has a palmitoyltransferase activity toward NCDN and regulates NCDN association with endosome membranes through this palmitoylation. May play a role in cell proliferation. Also has a palmitoyltransferase activity-independent function in DNA virus-triggered and CGAS-mediated innate immune response. Functions as an adapter that recruits IRF3 to STING1 to promote the activation of that key transcriptional regulator of type I interferon (IFN)-dependent immune response.
Subunit / interactions. Interacts with IRF3 and STING1; in presence of DNA viruses recruits IRF3 to STING1 promoting IRF3 phosphorylation and activation.
Subcellular location. Endoplasmic reticulum membrane.
Tissue specificity. Expressed in testis.
Domain organisation. The DHHC domain is required for palmitoyltransferase activity.
Similarity. Belongs to the DHHC palmitoyltransferase family.
Isoforms (2)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q9H8X9-1 | 1 | yes |
| Q9H8X9-2 | 2 |
RefSeq proteins (2): NP_001380421, NP_079062* (*=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 (24 total): topological domain 5, transmembrane region 4, splice variant 3, sequence variant 3, region of interest 2, compositionally biased region 2, mutagenesis site 2, chain 1, domain 1, active site 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q9H8X9-F1 | 74.62 | 0.58 |
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): 155 (s-palmitoyl cysteine intermediate)
Mutagenesis-validated functional residues (2):
| Position | Phenotype |
|---|---|
| 152–153 | no effect on the regulation of sting1-mediated innate immune response. |
| 155 | no effect on the regulation of sting1-mediated innate immune response. |
Function
Pathways and Gene Ontology
Reactome pathways
1 pathways
| ID | Pathway |
|---|---|
| R-HSA-9694548 | Maturation of spike protein |
MSigDB gene sets: 150 (showing top):
GOBP_REGULATION_OF_DEFENSE_RESPONSE_TO_VIRUS, GOBP_LIPOPROTEIN_METABOLIC_PROCESS, GOBP_PROTEIN_TARGETING, GOBP_PEPTIDYL_CYSTEINE_MODIFICATION, GOBP_PROTEIN_TARGETING_TO_MEMBRANE, ONKEN_UVEAL_MELANOMA_UP, GOBP_DEFENSE_RESPONSE_TO_OTHER_ORGANISM, SMID_BREAST_CANCER_LUMINAL_B_UP, BLALOCK_ALZHEIMERS_DISEASE_UP, DELYS_THYROID_CANCER_DN, GOBP_LIPOPROTEIN_BIOSYNTHETIC_PROCESS, GOBP_REGULATION_OF_RESPONSE_TO_STRESS, GOBP_ESTABLISHMENT_OF_PROTEIN_LOCALIZATION_TO_MEMBRANE, NIKOLSKY_BREAST_CANCER_5P15_AMPLICON, GOBP_DEFENSE_RESPONSE_TO_VIRUS
GO Biological Process (4): positive regulation of defense response to virus by host (GO:0002230), protein targeting to membrane (GO:0006612), peptidyl-L-cysteine S-palmitoylation (GO:0018230), antiviral innate immune response (GO:0140374)
GO Molecular Function (6): protein-cysteine S-palmitoyltransferase activity (GO:0019706), signaling adaptor activity (GO:0035591), protein binding (GO:0005515), palmitoyltransferase activity (GO:0016409), transferase activity (GO:0016740), acyltransferase activity (GO:0016746)
GO Cellular Component (6): Golgi membrane (GO:0000139), endoplasmic reticulum (GO:0005783), endoplasmic reticulum membrane (GO:0005789), Golgi apparatus (GO:0005794), endosome membrane (GO:0010008), membrane (GO:0016020)
Reactome top-level categories
Rollup of top-1 pathways:
| Category | Pathways |
|---|---|
| Translation of Structural Proteins | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| bounding membrane of organelle | 2 |
| cytoplasm | 2 |
| endomembrane system | 2 |
| intracellular membrane-bounded organelle | 2 |
| regulation of defense response to virus by host | 1 |
| protein targeting | 1 |
| establishment of protein localization to membrane | 1 |
| peptidyl-S-diacylglycerol-L-cysteine biosynthetic process from peptidyl-cysteine | 1 |
| protein palmitoylation | 1 |
| innate immune response | 1 |
| defense response to virus | 1 |
| palmitoyltransferase activity | 1 |
| protein-cysteine S-acyltransferase activity | 1 |
| protein-macromolecule adaptor activity | 1 |
| binding | 1 |
| acyltransferase activity, transferring groups other than amino-acyl groups | 1 |
| catalytic activity | 1 |
| transferase activity | 1 |
| Golgi apparatus | 1 |
| organelle membrane | 1 |
| nuclear outer membrane-endoplasmic reticulum membrane network | 1 |
| endoplasmic reticulum subcompartment | 1 |
| endosome | 1 |
| cytoplasmic vesicle membrane | 1 |
| cellular anatomical structure | 1 |
Protein interactions and networks
STRING
346 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| ZDHHC11 | ZDHHC22 | Q8N966 | 693 |
| ZDHHC11 | ZDHHC3 | Q9NYG2 | 645 |
| ZDHHC11 | ZDHHC13 | Q8IUH4 | 639 |
| ZDHHC11 | ZDHHC23 | Q8IYP9 | 553 |
| ZDHHC11 | ZDHHC24 | Q6UX98 | 460 |
| ZDHHC11 | PPT1 | P50897 | 428 |
| ZDHHC11 | SLC6A18 | Q96N87 | 375 |
| ZDHHC11 | ZDHHC2 | Q9UIJ5 | 374 |
| ZDHHC11 | TPPP | O94811 | 368 |
| ZDHHC11 | ZDHHC15 | Q96MV8 | 363 |
| ZDHHC11 | ZDHHC19 | Q8WVZ1 | 351 |
| ZDHHC11 | ZDHHC5 | Q9C0B5 | 349 |
| ZDHHC11 | ZDHHC17 | Q8IUH5 | 340 |
| ZDHHC11 | ZDHHC8 | Q9ULC8 | 337 |
| ZDHHC11 | CCDC198 | Q9NVL8 | 314 |
| ZDHHC11 | ZDHHC7 | Q9NXF8 | 314 |
IntAct
19 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| ZDHHC11 | TMEM14B | psi-mi:“MI:0915”(physical association) | 0.560 |
| ZDHHC11 | APOB | psi-mi:“MI:0914”(association) | 0.530 |
| ZDHHC11 | GPR37 | psi-mi:“MI:0915”(physical association) | 0.370 |
| ZDHHC11 | psi-mi:“MI:0915”(physical association) | 0.370 | |
| CCL1 | ZDHHC11 | psi-mi:“MI:0915”(physical association) | 0.370 |
| LTA | ZDHHC11 | psi-mi:“MI:0915”(physical association) | 0.370 |
| ZDHHC11 | TSPAN15 | psi-mi:“MI:0914”(association) | 0.350 |
| ZDHHC11 | SRC | psi-mi:“MI:0914”(association) | 0.350 |
| ZDHHC11 | NRP1 | psi-mi:“MI:0914”(association) | 0.350 |
| ZDHHC11 | TMEM14B | psi-mi:“MI:0915”(physical association) | 0.000 |
BioGRID (36): ZDHHC11 (Two-hybrid), FAM134A (Affinity Capture-MS), KIAA1715 (Affinity Capture-MS), MAPK3 (Affinity Capture-MS), C4orf32 (Affinity Capture-MS), APOB (Affinity Capture-MS), EFNB1 (Affinity Capture-MS), FGFR1 (Affinity Capture-MS), PPM1A (Affinity Capture-MS), GLMN (Affinity Capture-MS), ANKRD13A (Affinity Capture-MS), ZDHHC11 (Two-hybrid), ZDHHC11 (Two-hybrid), KIAA1715 (Affinity Capture-MS), FAM134A (Affinity Capture-MS)
ESM2 similar proteins: A0A0R4IF99, A2A3K4, A7E379, E7EZI4, E7F4Z4, E7FH11, E9QCD3, F1Q7H8, F1QHM7, F1QX91, O36371, O60291, O80685, P0C7U3, Q09282, Q0VD59, Q14AK4, Q28IK8, Q4R7E2, Q4WN54, Q58CU4, Q5BLG4, Q5RA75, Q5T0T0, Q5XH39, Q5Y5T1, Q5Y5T3, Q6C890, Q6DR03, Q6NZQ8, Q6X632, Q76IC6, Q8BQQ1, Q8BQU7, Q8I0G4, Q8IYP9, Q8IZN3, Q8R0N9, Q8TCQ1, Q93227
Diamond homologs: E7EZI4, E7F4Z4, P0C7U3, Q14AK4, Q8R0N9, Q8WTX9, Q9H8X9, Q8L5Y5, A0A0R4IQZ2, A0PK84, A5WVX9, B8A4F0, C8VCL4, E9PTT0, F1QAM1, F1QHM7, F1QX91, O60069, P0CS66, P0CS67, Q03289, Q04629, Q09701, Q10L01, Q2TGI8, Q2TGJ4, Q2TGK3, Q4I8B6, Q4IA62, Q4P6L3, Q4R690, Q4WZL8, Q4X251, Q550R7, Q552M6, Q554E7, Q58DT3, Q59QL0, Q5ADN9, Q5B0V6
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
143 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 3 |
| Likely pathogenic | 0 |
| Uncertain significance | 100 |
| Likely benign | 19 |
| Benign | 2 |
Top pathogenic / likely-pathogenic (3)
| Variant ID | HGVS | Classification |
|---|---|---|
| 2427644 | NC_000005.9:g.(?482643)(1895829_?)del | Pathogenic |
| 394397 | GRCh37/hg19 5p15.33-15.32(chr5:22149-4641409)x1 | Pathogenic |
| 814655 | GRCh37/hg19 5p15.33-15.32(chr5:113576-5657333)x1 | Pathogenic |
SpliceAI
3273 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 5:801174:A:C | acceptor_gain | 1.0000 |
| 5:801179:C:CT | acceptor_gain | 1.0000 |
| 5:801180:A:T | acceptor_gain | 1.0000 |
| 5:821852:CAAA:C | donor_gain | 1.0000 |
| 5:837481:C:CC | acceptor_gain | 1.0000 |
| 5:840493:A:AC | donor_gain | 1.0000 |
| 5:840494:C:CC | donor_gain | 1.0000 |
| 5:840494:CT:C | donor_gain | 1.0000 |
| 5:843595:CGTA:C | donor_loss | 1.0000 |
| 5:843596:GTA:G | donor_loss | 1.0000 |
| 5:843597:TACC:T | donor_loss | 1.0000 |
| 5:843598:A:AG | donor_loss | 1.0000 |
| 5:843599:C:CA | donor_loss | 1.0000 |
| 5:796578:CTC:C | acceptor_gain | 0.9900 |
| 5:796580:CCT:C | acceptor_loss | 0.9900 |
| 5:796581:C:CC | acceptor_gain | 0.9900 |
| 5:796581:CTGC:C | acceptor_loss | 0.9900 |
| 5:796582:T:A | acceptor_loss | 0.9900 |
| 5:801174:A:AC | acceptor_gain | 0.9900 |
| 5:801176:A:C | acceptor_gain | 0.9900 |
| 5:819626:C:CT | acceptor_gain | 0.9900 |
| 5:825250:CT:C | acceptor_gain | 0.9900 |
| 5:837360:GGTA:G | donor_loss | 0.9900 |
| 5:837361:GTAC:G | donor_loss | 0.9900 |
| 5:837362:TACCT:T | donor_loss | 0.9900 |
| 5:837363:A:C | donor_loss | 0.9900 |
| 5:837364:CCTGG:C | donor_loss | 0.9900 |
| 5:837403:T:A | donor_gain | 0.9900 |
| 5:837479:CT:C | acceptor_gain | 0.9900 |
| 5:837479:CTCT:C | acceptor_loss | 0.9900 |
AlphaMissense
2712 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 5:847564:G:C | F151L | 0.999 |
| 5:847564:G:T | F151L | 0.999 |
| 5:847566:A:G | F151L | 0.999 |
| 5:847577:C:G | C147S | 0.999 |
| 5:847578:A:T | C147S | 0.999 |
| 5:847579:C:A | K146N | 0.999 |
| 5:847579:C:G | K146N | 0.999 |
| 5:847581:T:C | K146E | 0.999 |
| 5:847586:C:G | C144S | 0.999 |
| 5:847586:C:T | C144Y | 0.999 |
| 5:847587:A:T | C144S | 0.999 |
| 5:847594:G:C | C141W | 0.999 |
| 5:847595:C:G | C141S | 0.999 |
| 5:847596:A:G | C141R | 0.999 |
| 5:847596:A:T | C141S | 0.999 |
| 5:847597:G:C | H140Q | 0.999 |
| 5:847597:G:T | H140Q | 0.999 |
| 5:847599:G:C | H140D | 0.999 |
| 5:848494:C:G | C130S | 0.999 |
| 5:848495:A:T | C130S | 0.999 |
| 5:848502:G:C | C127W | 0.999 |
| 5:848503:C:G | C127S | 0.999 |
| 5:848503:C:T | C127Y | 0.999 |
| 5:848504:A:G | C127R | 0.999 |
| 5:848504:A:T | C127S | 0.999 |
| 5:847529:C:T | G163E | 0.998 |
| 5:847534:G:C | C161W | 0.998 |
| 5:847535:C:G | C161S | 0.998 |
| 5:847536:A:T | C161S | 0.998 |
| 5:847558:G:C | H153Q | 0.998 |
dbSNP variants (sampled 300 via entrez): RS1000061653 (5:850033 A>G), RS1000078755 (5:861801 T>C), RS1000100803 (5:836337 A>C,G), RS1000260627 (5:821409 G>A), RS1000491909 (5:810318 C>A,G,T), RS1000595979 (5:795672 T>C), RS1000715083 (5:851258 G>A), RS1000767242 (5:851353 G>A), RS1000821461 (5:809406 A>G), RS1000914359 (5:852741 C>A,T), RS1000994876 (5:849126 C>A), RS1001180497 (5:833804 C>T), RS1001206345 (5:816024 T>A,C), RS1001384803 (5:839809 C>A,T), RS1001507423 (5:831444 G>A)
Disease associations
OMIM: gene `` | disease phenotypes: MIM:189800, MIM:613989
GenCC curated gene-disease
Mondo (3): preeclampsia (MONDO:0005081), dyskeratosis congenita, autosomal dominant 2 (MONDO:0013521), idiopathic pulmonary fibrosis (MONDO:0800504)
Orphanet (2): Preeclampsia (Orphanet:275555), Idiopathic pulmonary fibrosis (Orphanet:2032)
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
3 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST002553_8 | Pancreatic cancer | 1.000000e-13 |
| GCST004749_105 | Lung cancer in ever smokers | 4.000000e-06 |
| GCST90020029_1127 | Waist circumference adjusted for body mass index | 7.000000e-09 |
EFO canonical traits (1, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0007789 | BMI-adjusted waist circumference |
MeSH disease descriptors (2)
| Descriptor | Name | Tree numbers |
|---|---|---|
| D054990 | Idiopathic Pulmonary Fibrosis | C08.381.483.652.500 |
| D011225 | Pre-Eclampsia | C12.050.703.395.249 |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
40 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| sodium arsenite | decreases expression, affects cotreatment, increases abundance, increases expression | 4 |
| Benzo(a)pyrene | affects methylation, decreases expression | 3 |
| bisphenol A | increases expression, affects cotreatment, decreases methylation | 2 |
| Arsenic | affects cotreatment, decreases expression, increases abundance, affects methylation | 2 |
| aristolochic acid I | increases expression | 1 |
| trichostatin A | increases expression | 1 |
| beta-lapachone | decreases expression | 1 |
| sulforaphane | increases expression | 1 |
| tris(1,3-dichloro-2-propyl)phosphate | decreases expression | 1 |
| cobaltous chloride | decreases expression | 1 |
| perfluorooctanoic acid | decreases expression | 1 |
| manganese chloride | affects cotreatment, decreases expression, increases abundance | 1 |
| 1-nitropyrene | increases expression | 1 |
| di-n-butylphosphoric acid | affects expression | 1 |
| ICG 001 | increases expression | 1 |
| NSC 689534 | affects binding, increases expression | 1 |
| Fulvestrant | decreases methylation, affects cotreatment | 1 |
| Leflunomide | decreases expression | 1 |
| Air Pollutants | increases abundance, increases expression | 1 |
| Copper | affects binding, increases expression | 1 |
| Dichlorodiphenyl Dichloroethylene | decreases expression | 1 |
| Doxorubicin | affects response to substance | 1 |
| Etoposide | affects response to substance | 1 |
| Formaldehyde | increases expression | 1 |
| Hydrogen Peroxide | affects expression | 1 |
| Manganese | affects cotreatment, decreases expression, increases abundance | 1 |
| Progesterone | decreases expression | 1 |
| Silicon Dioxide | increases expression | 1 |
| Theophylline | decreases expression | 1 |
| Tobacco Smoke Pollution | decreases 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_TY63 | HAP1 ZDHHC11 (-) 1 | Cancer cell line | Male |
| CVCL_TY64 | HAP1 ZDHHC11 (-) 2 | Cancer cell line | Male |
Clinical trials (associated diseases)
300 trials via MONDO — disease-level, not drug-specific.
| Trial | Phase | Status | Title |
|---|---|---|---|
| NCT00117546 | PHASE4 | UNKNOWN | Cardiovascular and Autonomic Reactivity in Women With a History of Pre-eclampsia |
| NCT00567957 | PHASE4 | UNKNOWN | Remifentanil for General Anesthesia in Preeclamptics |
| NCT01030627 | PHASE4 | COMPLETED | Treatment Approaches to Preeclampsia |
| NCT01352234 | PHASE4 | COMPLETED | Comparison of Doses of Acetylsalicylic Acid in Women With Previous History of Preeclampsia |
| NCT01361425 | PHASE4 | UNKNOWN | Anti-Hypertensive Treatment In Stable Pregnant Women With Severe Pre-Eclampsia (Metildopape) |
| NCT01729468 | PHASE4 | COMPLETED | Prevention of Pre-eclampsia and SGA by Low-Dose Aspirin in Nulliparous Women With Abnormal First-trimester Uterine Artery Dopplers |
| NCT01761916 | PHASE4 | COMPLETED | Clonidine Versus Captopril for Treatment of Postpartum Very High Blood Pressure |
| NCT01912677 | PHASE4 | COMPLETED | Oral Antihypertensive Regimens for Management of Hypertension in Pregnancy |
| NCT02025426 | PHASE4 | TERMINATED | Phenylephrine Versus Ephedrine in Pre-eclampsia |
| NCT02091401 | PHASE4 | COMPLETED | A Trial Comparing Treatment With the Springfusor Infusion Pump to the IV Magnesium Sulfate Regimen |
| NCT02163655 | PHASE4 | COMPLETED | Diuretics for Postpartum High Blood Pressure in Preeclampsia |
| NCT02338687 | PHASE4 | COMPLETED | Low Dose Calcium to Prevent Preeclampsia |
| NCT02396030 | PHASE4 | TERMINATED | Different Schemes of Magnesium Sulfate for Preeclampsia |
| NCT02531490 | PHASE4 | UNKNOWN | Early Vascular Adjustments During Hypertensive Pregnancy |
| NCT02699827 | PHASE4 | COMPLETED | Adding MgSO4 to Epidural Levobupivacaine in CS for Patients With Preeclampsia |
| NCT02835339 | PHASE4 | COMPLETED | Magnesium Sulfate in Obese Preeclamptics |
| NCT02891174 | PHASE4 | COMPLETED | The Effect of Ibuprofen on Post-partum Blood Pressure in Women With Hypertensive Disorders of Pregnancy |
| NCT02911701 | PHASE4 | COMPLETED | Effect of Acetaminophen on Postpartum Blood Pressure Control in Preeclampsia With Severe Features |
| NCT03171480 | PHASE4 | COMPLETED | Use of Nitrous Oxide Donor for Labor Induction in Women With PreEclampsia |
| NCT03233880 | PHASE4 | UNKNOWN | Impact of Antichlamydial Treatment on the Rate of Preeclampsia |
| NCT03237000 | PHASE4 | UNKNOWN | Effect of Administering Intravenous Magnesium Sulfate on Fetal Cardiotocography and Neonatal Outcome in Preeclamptic Patients |
| NCT03506724 | PHASE4 | COMPLETED | Response to Anti-hypertensives in Pregnant and Postpartum Patients |
| NCT03674606 | PHASE4 | COMPLETED | Trial of Early Screening Test for Pre-eclampsia and Growth Restriction |
| NCT03735433 | PHASE4 | TERMINATED | The Effect of Two Aspirin Dosing Strategies for Obese Women at High Risk for Preeclampsia |
| NCT03824119 | PHASE4 | UNKNOWN | Postpartum NSAIDS and Maternal Hypertension |
| NCT04051567 | PHASE4 | UNKNOWN | Low-dose Aspirin for Prevention of Adverse Pregnancy Outcomes in Twin Pregnancies |
| NCT04077853 | PHASE4 | COMPLETED | Progesterone in Expectantly Managed Early-onset Preeclampsia |
| NCT04158830 | PHASE4 | WITHDRAWN | Aspirin (ASA) Therapy and Preeclampsia Prevention |
| NCT04424693 | PHASE4 | UNKNOWN | Comparing the Incidence of Preeclampsia Between Pregnant Women Receiving Tdap Vaccinations at Week 28 or at Week 36 |
| NCT04631627 | PHASE4 | UNKNOWN | Early Prediction and Randomised Prevention of Preeclampsia With Low Dose Aspirin in Chinese Cohort |
| NCT04656665 | PHASE4 | UNKNOWN | The Effectiveness of Aspirin on Preventing Pre-eclampsia |
| NCT04797949 | PHASE4 | WITHDRAWN | Adherence to Universal Aspirin Compared to Screening Indicated Aspirin for Prevention of Preeclampsia |
| NCT04908982 | PHASE4 | UNKNOWN | Aspirin for the Prevention of Preeclampsia in Women With Stage 1 Hypertension |
| NCT05221164 | PHASE4 | UNKNOWN | 162 mg of Aspirin for Prevention of Preeclampsia |
| NCT05294952 | PHASE4 | UNKNOWN | co Ihibtory Receptor in Preeclampsia |
| NCT05514847 | PHASE4 | ACTIVE_NOT_RECRUITING | Low Dose Aspirin for Preterm Preeclampsia Preventionmg/day Dose in High-risk Patients |
| NCT05586373 | PHASE4 | COMPLETED | Ibuprofen vs Dipyrone After C-section in Preeclampsia |
| NCT06069102 | PHASE4 | COMPLETED | Optimal Blood Pressure Treatment Thresholds Postpartum |
| NCT06107335 | PHASE4 | NOT_YET_RECRUITING | Effect of Albumin Versus Routine Care on Hemodynamic Response and Stability in Patients With Preeclampsia Guided by a Non-invasive Hemodynamic Monitoring System During Cesarean Delivery With Spinal Anesthesia |
| NCT06281665 | PHASE4 | RECRUITING | Treatment With Aspirin After Preeclampsia: TAP Trial |
Related Atlas pages
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): dyskeratosis congenita, autosomal dominant 2, exocrine pancreatic carcinoma, idiopathic pulmonary fibrosis, preeclampsia