ZDHHC8
gene geneOn this page
Also known as ZNF378KIAA1292DHHC8
Summary
ZDHHC8 (zDHHC palmitoyltransferase 8, HGNC:18474) is a protein-coding gene on chromosome 22q11.21, encoding Palmitoyltransferase ZDHHC8 (Q9ULC8). Palmitoyltransferase that catalyzes the addition of palmitate onto various protein substrates and therefore functions in several unrelated biological processes.
This gene encodes a four transmembrane protein that is a member of the zinc finger DHHC domain-containing protein family. The encoded protein may function as a palmitoyltransferase. Defects in this gene may be associated with a susceptibility to schizophrenia. Alternate splicing of this gene results in multiple transcript variants. A pseudogene of this gene is found on chromosome 22.
Source: NCBI Gene 29801 — RefSeq curated summary.
At a glance
- Clinical variants (ClinVar): 161 total
- MANE Select transcript:
NM_013373
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:18474 |
| Approved symbol | ZDHHC8 |
| Name | zDHHC palmitoyltransferase 8 |
| Location | 22q11.21 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | ZNF378, KIAA1292, DHHC8 |
| Ensembl gene | ENSG00000099904 |
| Ensembl biotype | protein_coding |
| OMIM | 608784 |
| Entrez | 29801 |
Gene structure
Transcript identifiers
Ensembl transcripts: 15 — 12 protein_coding, 2 retained_intron, 1 protein_coding_CDS_not_defined
ENST00000320602, ENST00000334554, ENST00000405930, ENST00000436518, ENST00000468112, ENST00000469212, ENST00000472497, ENST00000924011, ENST00000924012, ENST00000924013, ENST00000924014, ENST00000924015, ENST00000924016, ENST00000924017, ENST00000924018
RefSeq mRNA: 2 — MANE Select: NM_013373
NM_001185024, NM_013373
CCDS: CCDS13776, CCDS54502
Canonical transcript exons
ENST00000334554 — 11 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001221847 | 20142756 | 20143756 |
| ENSE00001221943 | 20139194 | 20139315 |
| ENSE00001331437 | 20140115 | 20140217 |
| ENSE00001331439 | 20139720 | 20139892 |
| ENSE00001705526 | 20139478 | 20139635 |
| ENSE00001799604 | 20145229 | 20148007 |
| ENSE00001823852 | 20131804 | 20132051 |
| ENSE00003459105 | 20141421 | 20141530 |
| ENSE00003504610 | 20141217 | 20141337 |
| ENSE00003542072 | 20140617 | 20140708 |
| ENSE00003595811 | 20140871 | 20141012 |
Expression profiles
Bgee: expression breadth ubiquitous, 214 present calls, max score 96.89.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 7.1259 / max 58.5077, expressed in 1730 samples.
FANTOM5 promoters (2 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 191118 | 5.3896 | 1676 |
| 191117 | 1.7363 | 1027 |
Top tissues by expression
242 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| tibial nerve | UBERON:0001323 | 96.89 | gold quality |
| metanephros cortex | UBERON:0010533 | 95.37 | gold quality |
| right hemisphere of cerebellum | UBERON:0014890 | 94.79 | gold quality |
| stromal cell of endometrium | CL:0002255 | 94.50 | gold quality |
| adenohypophysis | UBERON:0002196 | 93.92 | gold quality |
| right ovary | UBERON:0002118 | 93.89 | gold quality |
| cerebellar hemisphere | UBERON:0002245 | 93.87 | gold quality |
| apex of heart | UBERON:0002098 | 93.86 | gold quality |
| right lobe of thyroid gland | UBERON:0001119 | 93.81 | gold quality |
| cerebellar cortex | UBERON:0002129 | 93.76 | gold quality |
| left lobe of thyroid gland | UBERON:0001120 | 93.68 | gold quality |
| pituitary gland | UBERON:0000007 | 93.57 | gold quality |
| granulocyte | CL:0000094 | 93.41 | gold quality |
| right frontal lobe | UBERON:0002810 | 93.36 | gold quality |
| body of pancreas | UBERON:0001150 | 93.17 | gold quality |
| body of uterus | UBERON:0009853 | 93.14 | gold quality |
| left ovary | UBERON:0002119 | 93.07 | gold quality |
| left adrenal gland cortex | UBERON:0035825 | 92.97 | gold quality |
| endocervix | UBERON:0000458 | 92.86 | gold quality |
| right adrenal gland | UBERON:0001233 | 92.85 | gold quality |
| cerebellum | UBERON:0002037 | 92.72 | gold quality |
| right lung | UBERON:0002167 | 92.70 | gold quality |
| right adrenal gland cortex | UBERON:0035827 | 92.62 | gold quality |
| mucosa of stomach | UBERON:0001199 | 92.59 | gold quality |
| left uterine tube | UBERON:0001303 | 92.59 | gold quality |
| adrenal cortex | UBERON:0001235 | 92.56 | gold quality |
| right coronary artery | UBERON:0001625 | 92.53 | gold quality |
| left adrenal gland | UBERON:0001234 | 92.52 | gold quality |
| body of stomach | UBERON:0001161 | 92.50 | gold quality |
| minor salivary gland | UBERON:0001830 | 92.43 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 4.00 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
135 targeting ZDHHC8, 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-188-3P | 100.00 | 68.76 | 1240 |
| HSA-MIR-3925-3P | 100.00 | 69.95 | 1237 |
| HSA-MIR-3163 | 100.00 | 77.23 | 8605 |
| HSA-MIR-4692 | 100.00 | 67.32 | 2066 |
| HSA-MIR-4283 | 100.00 | 66.42 | 2097 |
| HSA-MIR-4282 | 99.99 | 75.36 | 6408 |
| HSA-MIR-4514 | 99.99 | 67.10 | 1870 |
| HSA-MIR-1184 | 99.99 | 68.19 | 1458 |
| HSA-MIR-7152-3P | 99.97 | 67.47 | 849 |
| HSA-MIR-2110 | 99.96 | 66.68 | 1930 |
| HSA-MIR-302E | 99.96 | 70.74 | 2669 |
| HSA-MIR-548AJ-3P | 99.96 | 73.38 | 5345 |
| HSA-MIR-548X-3P | 99.96 | 73.38 | 5345 |
| HSA-MIR-6825-5P | 99.96 | 69.81 | 3431 |
| HSA-MIR-4725-3P | 99.96 | 69.53 | 2520 |
| HSA-MIR-6780B-5P | 99.96 | 69.60 | 2562 |
| HSA-MIR-548J-3P | 99.94 | 72.61 | 4881 |
| HSA-MIR-218-5P | 99.93 | 72.22 | 2103 |
| HSA-MIR-6721-5P | 99.93 | 68.92 | 2981 |
| HSA-MIR-548AE-3P | 99.93 | 72.66 | 4867 |
| HSA-MIR-548AH-3P | 99.93 | 72.54 | 4872 |
| HSA-MIR-548AM-3P | 99.93 | 72.54 | 4872 |
| HSA-MIR-548AQ-3P | 99.93 | 72.66 | 4867 |
| HSA-MIR-4731-5P | 99.89 | 67.23 | 2537 |
| HSA-MIR-302A-3P | 99.89 | 71.23 | 1777 |
| HSA-MIR-302B-3P | 99.89 | 71.23 | 1777 |
| HSA-MIR-302C-3P | 99.89 | 71.20 | 1778 |
| HSA-MIR-302D-3P | 99.89 | 71.25 | 1777 |
| HSA-MIR-4271 | 99.88 | 68.32 | 2244 |
| HSA-MIR-106B-5P | 99.88 | 74.72 | 2795 |
Literature-anchored findings (GeneRIF, showing 10)
- genotyped three genetic variants within the ZDHHC8 locus and conducted association studies in both population- and family-based samples of the Han Chinese population (PMID:15489219)
- Because our sample size provided quite high power, ZDHHC8 may not play a major role in Japanese schizophrenia and our results did not support the gender-specific effect of this SNP. (PMID:15631889)
- Single nucleotide polymorphism is not associated with chromosome 22 deletion or schizophrenia. (PMID:17728672)
- Data show that palmitoyl acyltransferases DHHC5, DHHC6, and DHHC8 appear to be S-acylated on three cysteine residues within a novel CCX(7-13)C(S/T) motif downstream of a conserved Asp-His-His-Cys cysteine-rich domain. (PMID:19801377)
- The present study provides the first evidence that ZDHHC8 polymorphisms on the 22q11 locus are associated with smooth pursuit eye movement (SPEM)abnormality in a Korean population. (PMID:20468065)
- Consistently negative associations with schizophrenia were found in the rs175174 polymorphism (PMID:20661937)
- increased corpus callosum volume in children with 22q11DS is associated with ZDHHC8 polymorphism. (PMID:22763378)
- These data suggest that ZDHHC8 may play a role in cortical volumes in patients with schizophrenia. (PMID:23403413)
- the association between the COMT Val158Met and ZDHHC8 rs175174 single nucleotide polymorphism and the susceptibility to schizophrenia through a case-control study involving a population from the North Region of Brazil, was investigated. (PMID:28562378)
- AMPKalpha1-mediated ZDHHC8 phosphorylation promotes the palmitoylation of SLC7A11 to facilitate ferroptosis resistance in glioblastoma. (PMID:38211651)
Cross-species orthologs
3 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | zdhhc8b | ENSDARG00000018508 |
| mus_musculus | Zdhhc8 | ENSMUSG00000060166 |
| rattus_norvegicus | Zdhhc8 | ENSRNOG00000021891 |
Paralogs (1): ZDHHC5 (ENSG00000156599)
Protein
Protein identifiers
Palmitoyltransferase ZDHHC8 — Q9ULC8 (reviewed: Q9ULC8)
Alternative names: Zinc finger DHHC domain-containing protein 8, Zinc finger protein 378
All UniProt accessions (2): Q9ULC8, C9JVM2
UniProt curated annotations — full annotation on UniProt →
Function. Palmitoyltransferase that catalyzes the addition of palmitate onto various protein substrates and therefore functions in several unrelated biological processes. Through the palmitoylation of ABCA1 regulates the localization of the transporter to the plasma membrane and thereby regulates its function in cholesterol and phospholipid efflux. Could also pamitoylate the D(2) dopamine receptor DRD2 and regulate its stability and localization to the plasma membrane. Could also play a role in glutamatergic transmission. (Microbial infection) Able to palmitoylate SARS coronavirus-2/SARS-CoV-2 spike protein following its synthesis in the endoplasmic reticulum (ER). In the infected cell, promotes spike biogenesis by protecting it from premature ER degradation, increases half-life and controls the lipid organization of its immediate membrane environment. Once the virus has formed, spike palmitoylation controls fusion with the target cell.
Subcellular location. Golgi apparatus membrane. Mitochondrion membrane.
Tissue specificity. Widely expressed.
Domain organisation. The DHHC domain is required for palmitoyltransferase activity.
Miscellaneous. According to initial studies, defects in ZDHHC8 may contribute to susceptibility to schizophrenia. However, additional studies could not confirm this.
Similarity. Belongs to the DHHC palmitoyltransferase family. ERF2/ZDHHC9 subfamily.
Isoforms (3)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q9ULC8-1 | 1 | yes |
| Q9ULC8-2 | 2 | |
| Q9ULC8-3 | 3 |
RefSeq proteins (2): NP_001171953, NP_037505* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR001594 | Palmitoyltrfase_DHHC | Domain |
Pfam: PF01529
Catalyzed reactions (Rhea), 1 shown:
- L-cysteinyl-[protein] + hexadecanoyl-CoA = S-hexadecanoyl-L-cysteinyl-[protein] + CoA (RHEA:36683)
UniProt features (27 total): modified residue 8, topological domain 5, transmembrane region 4, region of interest 3, compositionally biased region 2, splice variant 2, chain 1, domain 1, active site 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q9ULC8-F1 | 57.65 | 0.26 |
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): 134 (s-palmitoyl cysteine intermediate)
Post-translational modifications (8): 337, 441, 606, 627, 675, 682, 725, 743
Function
Pathways and Gene Ontology
Reactome pathways
2 pathways
| ID | Pathway |
|---|---|
| R-HSA-8963896 | HDL assembly |
| R-HSA-9694548 | Maturation of spike protein |
MSigDB gene sets: 150 (showing top):
GGGACCA_MIR133A_MIR133B, CREL_01, GOBP_BEHAVIOR, GOBP_SYNAPSE_ASSEMBLY, GOBP_LIPOPROTEIN_METABOLIC_PROCESS, STARK_PREFRONTAL_CORTEX_22Q11_DELETION_DN, GOBP_POSITIVE_REGULATION_OF_PROTEIN_LOCALIZATION, GOBP_POSITIVE_REGULATION_OF_CHOLESTEROL_EFFLUX, GOBP_REGULATION_OF_CHOLESTEROL_EFFLUX, GOBP_POSITIVE_REGULATION_OF_STEROL_TRANSPORT, GOBP_MODULATION_OF_PROCESS_OF_ANOTHER_ORGANISM, GOBP_REGULATION_OF_CELL_JUNCTION_ASSEMBLY, GOBP_PROTEIN_LIPID_COMPLEX_ASSEMBLY, GOBP_REGULATION_OF_CELLULAR_COMPONENT_BIOGENESIS, GGGTGGRR_PAX4_03
GO Biological Process (7): locomotory behavior (GO:0007626), positive regulation of cholesterol efflux (GO:0010875), peptidyl-L-cysteine S-palmitoylation (GO:0018230), high-density lipoprotein particle assembly (GO:0034380), host-mediated activation of viral process (GO:0044794), regulation of postsynapse assembly (GO:0150052), positive regulation of protein localization to plasma membrane (GO:1903078)
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 (8): Golgi membrane (GO:0000139), Golgi apparatus (GO:0005794), cytosol (GO:0005829), mitochondrial membrane (GO:0031966), postsynapse (GO:0098794), glutamatergic synapse (GO:0098978), mitochondrion (GO:0005739), membrane (GO:0016020)
Reactome top-level categories
Rollup of top-2 pathways:
| Category | Pathways |
|---|---|
| Plasma lipoprotein assembly | 1 |
| Translation of Structural Proteins | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cytoplasm | 3 |
| cellular anatomical structure | 3 |
| intracellular membrane-bounded organelle | 2 |
| synapse | 2 |
| behavior | 1 |
| regulation of cholesterol efflux | 1 |
| positive regulation of cholesterol transport | 1 |
| cholesterol efflux | 1 |
| peptidyl-S-diacylglycerol-L-cysteine biosynthetic process from peptidyl-cysteine | 1 |
| protein palmitoylation | 1 |
| plasma lipoprotein particle assembly | 1 |
| host-mediated perturbation of viral process | 1 |
| regulation of synapse assembly | 1 |
| postsynapse assembly | 1 |
| regulation of postsynapse organization | 1 |
| protein localization to plasma membrane | 1 |
| regulation of protein localization to plasma membrane | 1 |
| positive regulation of protein localization to cell periphery | 1 |
| positive regulation of protein localization to membrane | 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 |
| endomembrane system | 1 |
| mitochondrion | 1 |
| mitochondrial envelope | 1 |
| organelle membrane | 1 |
Protein interactions and networks
STRING
928 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| ZDHHC8 | PRODH | O43272 | 837 |
| ZDHHC8 | PRODH | O43272 | 824 |
| ZDHHC8 | COMT | P21964 | 811 |
| ZDHHC8 | PALM | O75781 | 795 |
| ZDHHC8 | RTN4R | Q9BZR6 | 746 |
| ZDHHC8 | DGCR2 | P98153 | 742 |
| ZDHHC8 | MRPL40 | Q9NQ50 | 725 |
| ZDHHC8 | TANGO2 | Q6ICL3 | 686 |
| ZDHHC8 | ZDHHC13 | Q8IUH4 | 650 |
| ZDHHC8 | TAAR6 | Q96RI8 | 645 |
| ZDHHC8 | DAOA | P59103 | 645 |
| ZDHHC8 | GNB1L | Q9BYB4 | 619 |
| ZDHHC8 | ZDHHC22 | Q8N966 | 610 |
| ZDHHC8 | ZNF74 | Q16587 | 610 |
| ZDHHC8 | TRMT2A | Q8IZ69 | 607 |
IntAct
11 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| STX3 | NBAS | psi-mi:“MI:0914”(association) | 0.530 |
| NRAS | ESYT2 | psi-mi:“MI:2364”(proximity) | 0.480 |
| DCAF4 | IGLL5 | psi-mi:“MI:0914”(association) | 0.350 |
| CLDND1 | MAN1A2 | psi-mi:“MI:0914”(association) | 0.350 |
| CLDND1 | TNFRSF10B | psi-mi:“MI:0914”(association) | 0.350 |
| CLDND1 | PPL | psi-mi:“MI:0914”(association) | 0.350 |
| DNAJA2 | ENC1 | psi-mi:“MI:0914”(association) | 0.350 |
| GDPD5 | TMEM120B | psi-mi:“MI:0914”(association) | 0.350 |
| P4HA3 | ARHGAP10 | psi-mi:“MI:0914”(association) | 0.350 |
| KRAS | ESYT2 | psi-mi:“MI:2364”(proximity) | 0.270 |
BioGRID (39): ZDHHC8 (Affinity Capture-MS), ZDHHC8 (Affinity Capture-MS), ZDHHC8 (Proximity Label-MS), ZDHHC8 (Proximity Label-MS), ZDHHC8 (Proximity Label-MS), ZDHHC8 (Affinity Capture-MS), ZDHHC8 (Proximity Label-MS), ZDHHC8 (Proximity Label-MS), ZDHHC8 (Proximity Label-MS), ZDHHC8 (Proximity Label-MS), ZDHHC8 (Proximity Label-MS), ZDHHC8 (Proximity Label-MS), ZDHHC8 (Proximity Label-MS), ZDHHC8 (Proximity Label-MS), ZDHHC8 (Proximity Label-MS)
ESM2 similar proteins: A1L3I3, A2A699, A2AEV7, A5PKW4, A8MVW0, D3ZG83, F1MUS9, O14511, O14523, O14559, O35182, O43541, O94983, P46062, P56974, Q02779, Q2THW8, Q2THX0, Q3B8N7, Q3KP66, Q53LP3, Q5BJT1, Q5DTT2, Q5DU25, Q5JU85, Q5RBI7, Q5RD34, Q5VUB5, Q63HR2, Q66H43, Q66L42, Q69YU3, Q69ZH9, Q6PDH0, Q6R6L0, Q7TN12, Q80VC9, Q80Y50, Q80YF9, Q86VZ4
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
161 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 139 |
| Likely benign | 6 |
| Benign | 2 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
2166 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 22:20132052:G:GG | donor_gain | 1.0000 |
| 22:20139461:T:TA | acceptor_gain | 1.0000 |
| 22:20139468:T:A | acceptor_gain | 1.0000 |
| 22:20139469:G:A | acceptor_gain | 1.0000 |
| 22:20139474:GTA:G | acceptor_loss | 1.0000 |
| 22:20139475:TA:T | acceptor_loss | 1.0000 |
| 22:20139476:A:AC | acceptor_loss | 1.0000 |
| 22:20139476:A:AG | acceptor_gain | 1.0000 |
| 22:20139476:AGCG:A | acceptor_gain | 1.0000 |
| 22:20139477:G:C | acceptor_loss | 1.0000 |
| 22:20139477:G:GA | acceptor_gain | 1.0000 |
| 22:20139477:GC:G | acceptor_gain | 1.0000 |
| 22:20139477:GCGG:G | acceptor_gain | 1.0000 |
| 22:20139477:GCGGA:G | acceptor_gain | 1.0000 |
| 22:20140865:GTGCA:G | acceptor_loss | 1.0000 |
| 22:20140868:CAG:C | acceptor_loss | 1.0000 |
| 22:20140869:AGGTA:A | acceptor_loss | 1.0000 |
| 22:20141010:AAGG:A | donor_loss | 1.0000 |
| 22:20141012:GGTG:G | donor_loss | 1.0000 |
| 22:20141014:T:A | donor_loss | 1.0000 |
| 22:20141215:A:AG | acceptor_gain | 1.0000 |
| 22:20141216:G:GG | acceptor_gain | 1.0000 |
| 22:20141420:GA:G | acceptor_gain | 1.0000 |
| 22:20141420:GAGA:G | acceptor_gain | 1.0000 |
| 22:20142753:CA:C | acceptor_loss | 1.0000 |
| 22:20142755:G:A | acceptor_loss | 1.0000 |
| 22:20132047:TTC:T | donor_gain | 0.9900 |
| 22:20132051:CG:C | donor_loss | 0.9900 |
| 22:20132052:GTG:G | donor_loss | 0.9900 |
| 22:20132053:TGA:T | donor_loss | 0.9900 |
AlphaMissense
4894 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 22:20139272:C:A | N61K | 1.000 |
| 22:20139272:C:G | N61K | 1.000 |
| 22:20139527:G:C | K92N | 1.000 |
| 22:20139527:G:T | K92N | 1.000 |
| 22:20139553:T:A | V101D | 1.000 |
| 22:20139555:C:A | R102S | 1.000 |
| 22:20139561:A:G | K104E | 1.000 |
| 22:20139562:A:C | K104T | 1.000 |
| 22:20139562:A:T | K104M | 1.000 |
| 22:20139563:G:C | K104N | 1.000 |
| 22:20139563:G:T | K104N | 1.000 |
| 22:20139564:T:A | W105R | 1.000 |
| 22:20139564:T:C | W105R | 1.000 |
| 22:20139566:G:C | W105C | 1.000 |
| 22:20139566:G:T | W105C | 1.000 |
| 22:20139567:T:A | C106S | 1.000 |
| 22:20139567:T:C | C106R | 1.000 |
| 22:20139568:G:A | C106Y | 1.000 |
| 22:20139568:G:C | C106S | 1.000 |
| 22:20139568:G:T | C106F | 1.000 |
| 22:20139569:T:G | C106W | 1.000 |
| 22:20139576:T:A | C109S | 1.000 |
| 22:20139576:T:C | C109R | 1.000 |
| 22:20139577:G:A | C109Y | 1.000 |
| 22:20139577:G:C | C109S | 1.000 |
| 22:20139577:G:T | C109F | 1.000 |
| 22:20139578:C:G | C109W | 1.000 |
| 22:20139583:T:C | F111S | 1.000 |
| 22:20139585:T:G | Y112D | 1.000 |
| 22:20139588:C:A | R113S | 1.000 |
dbSNP variants (sampled 300 via entrez): RS1000007222 (22:20132581 C>T), RS1000133423 (22:20130948 A>ATAG), RS1000375308 (22:20146056 G>A,C), RS1000461423 (22:20130665 C>A,T), RS1000542631 (22:20130992 G>A,T), RS1000766921 (22:20136380 C>T), RS1000835940 (22:20137469 G>A,C), RS1000920566 (22:20137416 G>C,T), RS1001325014 (22:20146721 C>G,T), RS1001540181 (22:20131913 G>A), RS1001681918 (22:20131105 G>A), RS1001714676 (22:20139604 C>T), RS1001834509 (22:20142434 CCTATGT>C), RS1001924100 (22:20138494 G>C), RS1002009044 (22:20129862 A>G)
Disease associations
OMIM: gene MIM:608784 | disease phenotypes:
GenCC curated gene-disease
Mondo (1): prostate cancer (MONDO:0008315)
Orphanet (1): Familial prostate cancer (Orphanet:1331)
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
0 associations (top):
MeSH disease descriptors (1)
| Descriptor | Name | Tree numbers |
|---|---|---|
| D011471 | Prostatic Neoplasms | C04.588.945.440.770; C12.100.500.260.750; C12.100.500.565.625; C12.200.294.260.750; C12.200.294.565.625; C12.200.758.409.750; C12.900.619.750 |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
24 total (human), top 24 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| FR900359 | affects phosphorylation | 1 |
| dicrotophos | increases expression | 1 |
| propionaldehyde | increases expression | 1 |
| sodium arsenite | decreases expression | 1 |
| cobaltous chloride | decreases expression | 1 |
| butyraldehyde | decreases expression | 1 |
| pentanal | increases expression | 1 |
| abrine | decreases expression | 1 |
| jinfukang | affects cotreatment, increases expression | 1 |
| Sunitinib | increases expression | 1 |
| Vehicle Emissions | increases abundance, increases expression | 1 |
| Benzo(a)pyrene | decreases methylation | 1 |
| Caffeine | affects phosphorylation | 1 |
| Cisplatin | affects cotreatment, increases expression | 1 |
| Doxorubicin | decreases expression | 1 |
| Silicon Dioxide | increases expression | 1 |
| Tobacco Smoke Pollution | decreases expression | 1 |
| Tretinoin | decreases expression | 1 |
| Valproic Acid | increases methylation | 1 |
| Aflatoxin B1 | increases methylation | 1 |
| Antirheumatic Agents | increases expression | 1 |
| Cadmium Chloride | decreases expression | 1 |
| Acrylamide | decreases expression | 1 |
| Particulate Matter | increases abundance, increases expression | 1 |
Cellosaurus cell lines
3 cell lines: 3 cancer cell line
First 10 cell lines (id-ordered, not curated):
| Cellosaurus | Name | Category | Sex |
|---|---|---|---|
| CVCL_TZ06 | HAP1 ZDHHC8 (-) 1 | Cancer cell line | Male |
| CVCL_TZ07 | HAP1 ZDHHC8 (-) 2 | Cancer cell line | Male |
| CVCL_TZ08 | HAP1 ZDHHC8 (-) 3 | Cancer cell line | Male |
Clinical trials (associated diseases)
300 trials via MONDO — disease-level, not drug-specific.
| Trial | Phase | Status | Title |
|---|---|---|---|
| NCT00029224 | PHASE4 | COMPLETED | Treatment With Zoledronic Acid in Patients With Breast Cancer, Multiple Myeloma, and Prostate Cancer With Cancer Related Bone Lesions |
| NCT00035997 | PHASE4 | COMPLETED | Open-label Trial on the Effect of I.V. Zoledronic Acid 4 mg on Bone Density in Hormone Sensitive Prostate Cancer Patients With Bone Metastasis |
| NCT00063609 | PHASE4 | COMPLETED | The Effect of Zoledronic Acid on Bone Loss in Prostate Cancer Patients Undergoing Androgen Deprivation Therapy |
| NCT00103623 | PHASE4 | SUSPENDED | The Plenaxis® Experience Study |
| NCT00106392 | PHASE4 | COMPLETED | A Safety and Efficacy Study of Prograf in the Prevention of Erectile Dysfunction After Radical Prostatectomy |
| NCT00185029 | PHASE4 | UNKNOWN | MR-Lymphography and Lymph Node Staging in Prostate Cancer |
| NCT00199485 | PHASE4 | COMPLETED | Angelica Sinensis for the Treatment of Hot Flashes in Men Undergoing LHRH Therapy for Prostate Cancer |
| NCT00219219 | PHASE4 | COMPLETED | Zoledronic Acid in the Prevention of Skeletal-related Events in Hormone Refractory and Hormone-sensitive Prostate Cancer Patients With Bone Metastases |
| NCT00219271 | PHASE4 | COMPLETED | Effect Of Zoledronic Acid On Circulating And Bone Marrow-Residing Prostate Cancer Cells In Patients With Clinically Localized Prostate Cancer |
| NCT00237146 | PHASE4 | COMPLETED | Study to Evaluate Zoledronic Acid on Quality of Life and Skeletal-related Events as Adjuvant Treatment in Patients With Hormone-naïve Prostate Cancer and Bone Metastasis Who Have Undergone Orchiectomy |
| NCT00242554 | PHASE4 | COMPLETED | Open-label Phase IV Clinical Trial to Evaluate the Safety and Tolerability of Zoledronic Acid in Patients With Prostate Cancer and Bone Metastases |
| NCT00280098 | PHASE4 | COMPLETED | Docetaxel in the Treatment of Hormone Refractory Prostate Cancer |
| NCT00293696 | PHASE4 | COMPLETED | Casodex/Zoladex Biomarkers in Localised Prostate Cancer |
| NCT00334139 | PHASE4 | COMPLETED | Effect of Zoledronic Acid on Bone Metabolism in Patients With Bone Metastasis and Prostate or Breast Cancer |
| NCT00375765 | PHASE4 | COMPLETED | Effects On Dihydrotestosterone Regulated Gene Expression In Benign Prostatic Hyperplasia Or Prostate Cancer |
| NCT00391690 | PHASE4 | COMPLETED | Evaluation of Bone Markers as Diagnostic Tools for Early Detection of Bone Metastases in Patients With High Risk Prostate Cancer |
| NCT00422708 | PHASE4 | COMPLETED | Local Anesthesia for Prostate Biopsy |
| NCT00526331 | PHASE4 | COMPLETED | Evaluation of Arterial Pressure Based Cardiac Output for Goal-Directed Perioperative Therapy |
| NCT00590213 | PHASE4 | COMPLETED | Compare the Value of Prophylactic Versus Therapeutic Breast Radiotherapy in CASODEX |
| NCT00629330 | PHASE4 | TERMINATED | Dissemination of Prostate Cancer Screening to PCP’s in African American Communities |
| NCT00771966 | PHASE4 | COMPLETED | Radical Prostatectomy and Perioperative Fluid Therapy |
| NCT00805701 | PHASE4 | COMPLETED | Study Assessing The Efficacy And Safety Of Avodart (Dutasteride) At Improving Urinary Symptoms In Men With Prostate Cancer Who Are Undergoing Seed Implantation |
| NCT00859027 | PHASE4 | COMPLETED | Effect Of Risedronate On Bone Mass In Older Men Receiving Neoadjuvant Therapy For Prostate Cancer |
| NCT00906269 | PHASE4 | UNKNOWN | Can Hyperbaric Oxygen Improve Erectile Function Following Surgery for Prostate Cancer |
| NCT00953277 | PHASE4 | COMPLETED | Study of Nerve Reconstruction Using AVANCE in Subjects Who Undergo Robotic Assisted Prostatectomy for Treatment of Prostate Cancer |
| NCT00982800 | PHASE4 | COMPLETED | Does Postoperative Gabapentin Reduce Pain, Opioid Consumption and Anxiety and Have a Positive Effect on Health Related Quality of Life After Radical Prostatectomy? |
| NCT01083199 | PHASE4 | COMPLETED | Global Performance Evaluation of the AMS CONTINUUM™ Device |
| NCT01136226 | PHASE4 | COMPLETED | Evaluate Recovery of Testosterone for Patients Using Eligard |
| NCT01161563 | PHASE4 | COMPLETED | Randomized Crossover Trial to Assess the Tolerability of Gonadotropin Releasing Hormone (GnRH) Analogue Administration |
| NCT01230905 | PHASE4 | COMPLETED | Study to Monitor the Effects of Androgen Suppression Treatment on the Heart |
| NCT01296672 | PHASE4 | COMPLETED | 3 Month Finasteride Challenge Test Can Significantly Improve the Performance of Screening for Prostate Cancer |
| NCT01365143 | PHASE4 | TERMINATED | Prospective Randomized Trial Comparing Robotic Versus Open Radical Prostatectomy |
| NCT01379742 | PHASE4 | UNKNOWN | Comparison of Between ThinSeed™ and OncoSeed™ for Permanent Prostate Brachytherapy |
| NCT01486563 | PHASE4 | COMPLETED | Hydroxyethyl Starch and Renal Function After Radical Prostatectomy |
| NCT01511874 | PHASE4 | COMPLETED | Efficacy and Safety Study of ELIGARD 22.5mg With Prostate Cancer |
| NCT01512472 | PHASE4 | TERMINATED | Firmagon (Degarelix) Intermittent Therapy |
| NCT01547416 | PHASE4 | COMPLETED | The Effect of Combined General/Epidural Anesthesia Versus General Anesthesia on Diaphragmatic Function |
| NCT01571544 | PHASE4 | COMPLETED | The Use of Thermal Suits as Preventing Hypothermia During Surgery |
| NCT01581749 | PHASE4 | UNKNOWN | Evaluation of Truebeam for Low-Intermediate Risk Prostate Cancer |
| NCT01649635 | PHASE4 | COMPLETED | Study of Cabazitaxel Combined With Prednisone and Prophylaxis of Neutropenia Complications in the Treatment of Patients With Metastatic Castration-resistant Prostate Cancer |
Related Atlas pages
No linked Atlas pages yet — the cross-entity mesh grows as the corpus expands.