ZDHHC6
gene geneOn this page
Also known as ZNF376FLJ21952
Summary
ZDHHC6 (zDHHC palmitoyltransferase 6, HGNC:19160) is a protein-coding gene on chromosome 10q25.2, encoding Palmitoyltransferase ZDHHC6 (Q9H6R6). Endoplasmic reticulum palmitoyl acyltransferase that mediates palmitoylation of proteins such as AMFR, CALX, ITPR1 and TFRC.
Enables palmitoyltransferase activity and protein-cysteine S-stearoyltransferase activity. Involved in positive regulation of mitochondrial fusion; protein palmitoylation; and protein stearoylation. Located in endoplasmic reticulum.
Source: NCBI Gene 64429 — RefSeq curated summary.
At a glance
- GWAS associations: 3
- Clinical variants (ClinVar): 61 total
- MANE Select transcript:
NM_022494
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:19160 |
| Approved symbol | ZDHHC6 |
| Name | zDHHC palmitoyltransferase 6 |
| Location | 10q25.2 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | ZNF376, FLJ21952 |
| Ensembl gene | ENSG00000023041 |
| Ensembl biotype | protein_coding |
| OMIM | 618715 |
| Entrez | 64429 |
Gene structure
Transcript identifiers
Ensembl transcripts: 54 — 38 protein_coding, 8 retained_intron, 6 nonsense_mediated_decay, 2 protein_coding_CDS_not_defined
ENST00000369404, ENST00000369405, ENST00000471035, ENST00000482410, ENST00000626395, ENST00000681964, ENST00000682006, ENST00000682055, ENST00000682143, ENST00000682182, ENST00000682195, ENST00000682267, ENST00000682441, ENST00000682616, ENST00000682731, ENST00000682807, ENST00000682839, ENST00000683319, ENST00000683491, ENST00000683505, ENST00000683895, ENST00000684173, ENST00000684234, ENST00000684507, ENST00000684617, ENST00000684741, ENST00000876815, ENST00000876816, ENST00000876817, ENST00000876818, ENST00000876819, ENST00000876820, ENST00000876821, ENST00000876822, ENST00000876823, ENST00000876825, ENST00000876827, ENST00000876830, ENST00000876832, ENST00000876833, ENST00000876834, ENST00000876835, ENST00000876836, ENST00000876837, ENST00000914120, ENST00000914121, ENST00000914122, ENST00000914123, ENST00000962556, ENST00000962557, ENST00000962558, ENST00000962559, ENST00000962560, ENST00000962561
RefSeq mRNA: 9 — MANE Select: NM_022494
NM_001303134, NM_001351082, NM_001351083, NM_001351084, NM_001351085, NM_001351086, NM_001363544, NM_001411066, NM_022494
CCDS: CCDS7574, CCDS76335, CCDS86144, CCDS91345
Canonical transcript exons
ENST00000369405 — 11 exons
| Exon | Start | End |
|---|---|---|
| ENSE00000811892 | 112434297 | 112434464 |
| ENSE00000811893 | 112438336 | 112438389 |
| ENSE00000811894 | 112440534 | 112440695 |
| ENSE00000811895 | 112442192 | 112442351 |
| ENSE00000811896 | 112443515 | 112443606 |
| ENSE00001368652 | 112446705 | 112446914 |
| ENSE00001449965 | 112430300 | 112430907 |
| ENSE00001449967 | 112445170 | 112445650 |
| ENSE00003466494 | 112432376 | 112432521 |
| ENSE00003569075 | 112432240 | 112432286 |
| ENSE00003669563 | 112433240 | 112433281 |
Expression profiles
Bgee: expression breadth ubiquitous, 285 present calls, max score 99.13.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 23.9115 / max 201.6748, expressed in 1817 samples.
FANTOM5 promoters (6 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 111434 | 12.3047 | 1799 |
| 111435 | 9.5776 | 1781 |
| 111432 | 0.7171 | 404 |
| 111433 | 0.6930 | 413 |
| 111437 | 0.4167 | 187 |
| 111436 | 0.2023 | 76 |
Top tissues by expression
288 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| renal glomerulus | UBERON:0000074 | 99.13 | gold quality |
| metanephric glomerulus | UBERON:0004736 | 99.05 | gold quality |
| jejunal mucosa | UBERON:0000399 | 96.85 | gold quality |
| cortex of kidney | UBERON:0001225 | 96.20 | gold quality |
| metanephros | UBERON:0000081 | 96.03 | gold quality |
| kidney epithelium | UBERON:0004819 | 95.84 | gold quality |
| metanephros cortex | UBERON:0010533 | 95.80 | gold quality |
| duodenum | UBERON:0002114 | 95.75 | gold quality |
| rectum | UBERON:0001052 | 95.62 | gold quality |
| right uterine tube | UBERON:0001302 | 95.57 | gold quality |
| small intestine Peyer’s patch | UBERON:0003454 | 95.18 | gold quality |
| right ovary | UBERON:0002118 | 94.79 | gold quality |
| granulocyte | CL:0000094 | 94.78 | gold quality |
| adult mammalian kidney | UBERON:0000082 | 94.74 | gold quality |
| left ovary | UBERON:0002119 | 94.64 | gold quality |
| mucosa of stomach | UBERON:0001199 | 94.56 | gold quality |
| small intestine | UBERON:0002108 | 94.47 | gold quality |
| tibial nerve | UBERON:0001323 | 94.29 | gold quality |
| lymph node | UBERON:0000029 | 94.26 | gold quality |
| body of pancreas | UBERON:0001150 | 94.24 | gold quality |
| gall bladder | UBERON:0002110 | 94.23 | gold quality |
| spleen | UBERON:0002106 | 94.20 | gold quality |
| minor salivary gland | UBERON:0001830 | 94.10 | gold quality |
| endometrium | UBERON:0001295 | 93.92 | gold quality |
| body of uterus | UBERON:0009853 | 93.85 | gold quality |
| transverse colon | UBERON:0001157 | 93.82 | gold quality |
| ileal mucosa | UBERON:0000331 | 93.73 | gold quality |
| kidney | UBERON:0002113 | 93.73 | gold quality |
| right lung | UBERON:0002167 | 93.67 | gold quality |
| calcaneal tendon | UBERON:0003701 | 93.66 | gold quality |
Single-cell (SCXA)
Detected in 2 experiment(s), a significant marker in 2.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-CURD-119 | yes | 30.20 |
| E-ANND-3 | yes | 6.27 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
58 targeting ZDHHC6, 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-607 | 99.97 | 73.62 | 5593 |
| HSA-MIR-548AN | 99.97 | 70.91 | 2817 |
| HSA-MIR-3910 | 99.95 | 71.13 | 2227 |
| HSA-MIR-6721-5P | 99.93 | 68.92 | 2981 |
| HSA-MIR-1297 | 99.91 | 73.41 | 3162 |
| HSA-MIR-1305 | 99.91 | 71.43 | 3443 |
| HSA-MIR-8063 | 99.91 | 69.76 | 3146 |
| HSA-MIR-7162-3P | 99.89 | 68.16 | 1682 |
| HSA-MIR-6124 | 99.87 | 69.78 | 3551 |
| HSA-MIR-548AR-3P | 99.85 | 71.26 | 3889 |
| HSA-MIR-4698 | 99.84 | 71.41 | 4303 |
| HSA-MIR-548AZ-3P | 99.82 | 70.56 | 3549 |
| HSA-MIR-548BC | 99.82 | 70.61 | 3524 |
| HSA-MIR-548E-3P | 99.82 | 70.59 | 3514 |
| HSA-MIR-548F-3P | 99.82 | 70.59 | 3540 |
| HSA-MIR-3133 | 99.81 | 70.92 | 3506 |
| HSA-MIR-448 | 99.79 | 72.37 | 2103 |
| HSA-MIR-26A-5P | 99.78 | 73.52 | 2303 |
| HSA-MIR-26B-5P | 99.78 | 73.51 | 2305 |
| HSA-MIR-498-5P | 99.76 | 69.64 | 1807 |
| HSA-MIR-548A-3P | 99.76 | 70.58 | 3524 |
| HSA-MIR-148A-3P | 99.74 | 73.77 | 1700 |
| HSA-MIR-148B-3P | 99.74 | 73.75 | 1700 |
| HSA-MIR-152-3P | 99.74 | 73.75 | 1703 |
| HSA-MIR-4465 | 99.71 | 72.56 | 2096 |
| HSA-MIR-10394-5P | 99.65 | 66.83 | 1852 |
| HSA-MIR-1205 | 99.65 | 66.76 | 1826 |
| HSA-MIR-6134 | 99.63 | 65.68 | 1537 |
| HSA-MIR-7106-5P | 99.53 | 67.47 | 3574 |
| HSA-MIR-136-5P | 99.50 | 67.26 | 1153 |
Literature-anchored findings (GeneRIF, showing 3)
- 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)
- DHHC6 knockdown using shRNA in stably transfected cell lines led to decreased expression of the IP3R and impaired IP3R-dependent Ca(2+) flux. (PMID:25368151)
- human ZDHHC6, which modifies key proteins of the endoplasmic reticulum, is controlled by an upstream palmitoyltransferase, ZDHHC16, revealing the first palmitoylation cascade. (PMID:28826475)
Cross-species orthologs
6 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | zdhhc6 | ENSDARG00000075721 |
| mus_musculus | Zdhhc6 | ENSMUSG00000024982 |
| rattus_norvegicus | Zdhhc6 | ENSRNOG00000036576 |
| drosophila_melanogaster | CG4483 | FBGN0035970 |
| drosophila_melanogaster | CG5196 | FBGN0038039 |
| caenorhabditis_elegans | WBGENE00008606 |
Paralogs (17): 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), ZDHHC18 (ENSG00000204160), ZDHHC11B (ENSG00000206077)
Protein
Protein identifiers
Palmitoyltransferase ZDHHC6 — Q9H6R6 (reviewed: Q9H6R6)
Alternative names: Stearoyltransferase ZDHHC6, Transmembrane protein H4, Zinc finger DHHC domain-containing protein 6, Zinc finger protein 376
All UniProt accessions (9): A0A0D9SEX5, A0A804HJ40, A0A804HJ80, A0A804HJC7, Q9H6R6, A0A804HJK5, A0A804HKZ7, A0A804HL63, A0A804HL82
UniProt curated annotations — full annotation on UniProt →
Function. Endoplasmic reticulum palmitoyl acyltransferase that mediates palmitoylation of proteins such as AMFR, CALX, ITPR1 and TFRC. Palmitoylates calnexin (CALX), which is required for its association with the ribosome-translocon complex and efficient folding of glycosylated proteins. Mediates palmitoylation of AMFR, promoting AMFR distribution to the peripheral endoplasmic reticulum. Together with SELENOK, palmitoylates ITPR1 in immune cells, leading to regulate ITPR1 stability and function. Stearoyltransferase that mediates stearoylation of TFRC to inhibit TFRC-mediated activation of the JNK pathway and mitochondrial fragmentation.
Subunit / interactions. Homooligomerizes. Interacts with SELENOK.
Subcellular location. Endoplasmic reticulum membrane.
Post-translational modifications. Palmitoylated at 3 different sites by ZDHHC16. The combination of the different palmitoylation events strongly affects the quaternary assembly of ZDHHC6, its localization, stability and function. Palmitoylation at Cys-328 accelerates the turnover of ZDHHC6. Depalmitoylated by LYPLA2.
Domain organisation. The DHHC domain is required for palmitoyltransferase activity. The C-terminal di-lysine motif confers endoplasmic reticulum localization.
Similarity. Belongs to the DHHC palmitoyltransferase family.
Isoforms (2)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q9H6R6-1 | 1 | yes |
| Q9H6R6-2 | 2 |
RefSeq proteins (9): NP_001290063, NP_001338011, NP_001338012, NP_001338013, NP_001338014, NP_001338015, NP_001350473, NP_001397995, NP_071939* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR001452 | SH3_domain | Domain |
| IPR001594 | Palmitoyltrfase_DHHC | Domain |
| IPR039859 | PFA4/ZDH16/20/ERF2-like | Family |
Pfam: PF01529, PF07653
Catalyzed reactions (Rhea), 2 shown:
- L-cysteinyl-[protein] + hexadecanoyl-CoA = S-hexadecanoyl-L-cysteinyl-[protein] + CoA (RHEA:36683)
- L-cysteinyl-[protein] + octadecanoyl-CoA = S-octadecanoyl-L-cysteinyl-[protein] + CoA (RHEA:59740)
UniProt features (32 total): mutagenesis site 7, sequence conflict 6, topological domain 5, transmembrane region 4, lipid moiety-binding region 3, domain 2, chain 1, short sequence motif 1, active site 1, splice variant 1, sequence variant 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q9H6R6-F1 | 86.57 | 0.68 |
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): 129 (s-palmitoyl cysteine intermediate)
Post-translational modifications (3): 328, 329, 343
Mutagenesis-validated functional residues (7):
| Position | Phenotype |
|---|---|
| 328–329 | abolishes palmitoylation, leading to impaired homooligomeization and decreased catalytic activity; when associated with |
| 343 | abolishes palmitoylation, leading to impaired homooligomeization and decreased catalytic activity; when associated with |
| 409 | does not affect localization to the endoplasmic reticulum. |
| 410 | impaired localization to the endoplasmic reticulum. |
| 411 | impaired localization to the endoplasmic reticulum. |
| 412 | does not affect localization to the endoplasmic reticulum. |
| 413 | does not affect localization to the endoplasmic reticulum. |
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 156 (showing top):
TSENG_IRS1_TARGETS_UP, AAGCCAT_MIR135A_MIR135B, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_DN, GRAESSMANN_RESPONSE_TO_MC_AND_DOXORUBICIN_DN, GOBP_PROTEIN_TARGETING, GOBP_PROTEIN_TARGETING_TO_MEMBRANE, GOBP_ESTABLISHMENT_OF_PROTEIN_LOCALIZATION_TO_MEMBRANE, GOBP_LOCALIZATION_WITHIN_MEMBRANE, GRYDER_PAX3FOXO1_ENHANCERS_IN_TADS, MCCLUNG_COCAIN_REWARD_4WK, ACEVEDO_METHYLATED_IN_LIVER_CANCER_DN, BENPORATH_OCT4_TARGETS, GRYDER_PAX3FOXO1_TOP_ENHANCERS, chr10q25, VANHARANTA_UTERINE_FIBROID_WITH_7Q_DELETION_UP
GO Biological Process (2): protein targeting to membrane (GO:0006612), intracellular signal transduction (GO:0035556)
GO Molecular Function (6): palmitoyltransferase activity (GO:0016409), protein-cysteine S-palmitoyltransferase activity (GO:0019706), protein-cysteine S-stearoyltransferase activity (GO:0140439), protein binding (GO:0005515), transferase activity (GO:0016740), acyltransferase activity (GO:0016746)
GO Cellular Component (4): endoplasmic reticulum (GO:0005783), endoplasmic reticulum membrane (GO:0005789), Golgi apparatus (GO:0005794), membrane (GO:0016020)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| protein-cysteine S-acyltransferase activity | 2 |
| cytoplasm | 2 |
| endomembrane system | 2 |
| intracellular membrane-bounded organelle | 2 |
| protein targeting | 1 |
| establishment of protein localization to membrane | 1 |
| intracellular anatomical structure | 1 |
| signal transduction | 1 |
| acyltransferase activity, transferring groups other than amino-acyl groups | 1 |
| palmitoyltransferase activity | 1 |
| binding | 1 |
| catalytic activity | 1 |
| transferase activity | 1 |
| organelle membrane | 1 |
| nuclear outer membrane-endoplasmic reticulum membrane network | 1 |
| endoplasmic reticulum subcompartment | 1 |
| cellular anatomical structure | 1 |
Protein interactions and networks
STRING
544 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| ZDHHC6 | SELENOK | Q9Y6D0 | 893 |
| ZDHHC6 | ZDHHC13 | Q8IUH4 | 697 |
| ZDHHC6 | GOLGA7 | Q7Z5G4 | 610 |
| ZDHHC6 | LYPLA2 | O95372 | 560 |
| ZDHHC6 | TECTB | Q96PL2 | 523 |
| ZDHHC6 | VTI1A | Q96AJ9 | 507 |
| ZDHHC6 | ACSL5 | Q9ULC5 | 506 |
| ZDHHC6 | ZDHHC4 | Q9NPG8 | 505 |
| ZDHHC6 | PPT1 | P50897 | 504 |
| ZDHHC6 | LYPLA1 | O75608 | 490 |
| ZDHHC6 | ZDHHC17 | Q8IUH5 | 488 |
| ZDHHC6 | NHLRC2 | Q8NBF2 | 460 |
| ZDHHC6 | CCDC186 | Q7Z3E2 | 460 |
| ZDHHC6 | ZDHHC24 | Q6UX98 | 456 |
| ZDHHC6 | PLEKHS1 | Q5SXH7 | 456 |
IntAct
60 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| LRRC32 | SMPD2 | psi-mi:“MI:0914”(association) | 0.640 |
| POMK | LRP5 | psi-mi:“MI:0914”(association) | 0.640 |
| KLRG2 | GXYLT2 | psi-mi:“MI:0914”(association) | 0.530 |
| POMK | TMEM120B | psi-mi:“MI:0914”(association) | 0.530 |
| C3AR1 | TMEM120B | psi-mi:“MI:0914”(association) | 0.530 |
| CD226 | MEN1 | psi-mi:“MI:0914”(association) | 0.530 |
| WBP1 | EXTL3 | psi-mi:“MI:0914”(association) | 0.530 |
| TSPAN2 | TSPAN3 | psi-mi:“MI:0914”(association) | 0.530 |
| PLVAP | SMPD2 | psi-mi:“MI:0914”(association) | 0.530 |
| TSPAN5 | SC5D | psi-mi:“MI:0914”(association) | 0.530 |
| STS | GJA1 | psi-mi:“MI:0914”(association) | 0.530 |
| CD63 | LGALS8 | psi-mi:“MI:0914”(association) | 0.530 |
| IL27RA | AP1G2 | psi-mi:“MI:0914”(association) | 0.530 |
| CD44 | PDPK1 | psi-mi:“MI:0914”(association) | 0.530 |
| ADAM10 | ZDHHC6 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| CLDN17 | ZDHHC6 | psi-mi:“MI:0915”(physical association) | 0.400 |
| SNRNP70 | ZDHHC6 | psi-mi:“MI:0915”(physical association) | 0.400 |
| ZDHHC6 | psi-mi:“MI:0915”(physical association) | 0.370 | |
| ZDHHC6 | psi-mi:“MI:0915”(physical association) | 0.370 | |
| CCL1 | ZDHHC6 | psi-mi:“MI:0915”(physical association) | 0.370 |
| TMEM223 | psi-mi:“MI:0914”(association) | 0.350 | |
| POMK | ESYT2 | psi-mi:“MI:0914”(association) | 0.350 |
| EPHA7 | MYO1B | psi-mi:“MI:0914”(association) | 0.350 |
| EPHB2 | BANF1 | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (77): ZDHHC6 (Affinity Capture-RNA), ZDHHC6 (Affinity Capture-RNA), ZDHHC6 (Affinity Capture-MS), ZDHHC6 (Affinity Capture-MS), ZDHHC6 (Affinity Capture-MS), ZDHHC6 (Affinity Capture-MS), ZDHHC6 (Affinity Capture-MS), ZDHHC6 (Affinity Capture-MS), ZDHHC6 (Affinity Capture-MS), ZDHHC6 (Affinity Capture-MS), ZDHHC6 (Affinity Capture-MS), ZDHHC6 (Affinity Capture-MS), ZDHHC6 (Affinity Capture-MS), ZDHHC6 (Affinity Capture-MS), ZDHHC6 (Affinity Capture-MS)
ESM2 similar proteins: A0A0R4IF99, B8A4F0, E7F587, E7F6D7, F1Q7H8, F1QHM7, F1QX91, F1QXD3, F1RE57, O14345, O74384, P0C7U3, P42836, Q06551, Q0VC89, Q10L01, Q14AK4, Q2HJ95, Q2TGJ4, Q3EBC2, Q4R7E2, Q4WN54, Q58CU4, Q5BC23, Q5BLG4, Q5FWL7, Q5REH2, Q5W0Z9, Q5Y5T1, Q5Y5T3, Q6BLY8, Q6CG20, Q6CUB5, Q6DHI1, Q6FSS4, Q750R7, Q75AW7, Q76IC6, Q7XA86, Q8BGJ0
Diamond homologs: E7F6D7, Q2HJ95, Q4PE27, Q4R7E2, Q4WC37, Q5BD15, Q5REH2, Q969W1, Q9CPV7, Q9H6R6, Q6BLY8, Q9ESG8, J9VJ99, O14345, P0CS68, P0CS69, Q12006, Q86A83, A0A0R4IDP3, A0A0R4IF99, B8A4F0, E7F587, F1Q7H8, F1QXD3, F1R013, F1RE57, P0CS66, P0CS67, Q10L01, Q2TGK3, Q4WZL8, Q552M6, Q58CU4, Q58DT3, Q5ADN9, Q5B433, Q6BHT4, Q6C4W5, Q6DHI1, Q6FSS4
SIGNOR signaling
0 interactions.
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 81 IntAct physical interaction partners (hypergeometric vs the genome-wide background, BH-FDR, gene-set size 15–500, ranked by fold). A functional readout of the neighbourhood — distinct from this gene’s own memberships above, and biased toward well-studied / hub proteins, so read it as themes rather than proof.
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| epidermal growth factor receptor signaling pathway | 5 | 17.4× | 3e-03 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
61 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 46 |
| Likely benign | 0 |
| Benign | 3 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
2353 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 10:112425336:A:AG | acceptor_gain | 1.0000 |
| 10:112425336:AGAAT:A | acceptor_gain | 1.0000 |
| 10:112425337:G:GA | acceptor_gain | 1.0000 |
| 10:112425337:GA:G | acceptor_gain | 1.0000 |
| 10:112425337:GAAT:G | acceptor_gain | 1.0000 |
| 10:112425337:GAATG:G | acceptor_gain | 1.0000 |
| 10:112425435:G:GT | donor_gain | 1.0000 |
| 10:112425436:G:GT | donor_gain | 1.0000 |
| 10:112432372:TTAC:T | donor_loss | 1.0000 |
| 10:112432373:TACC:T | donor_loss | 1.0000 |
| 10:112432374:A:AC | donor_gain | 1.0000 |
| 10:112432374:A:C | donor_loss | 1.0000 |
| 10:112432374:AC:A | donor_gain | 1.0000 |
| 10:112432375:C:CT | donor_gain | 1.0000 |
| 10:112432375:CC:C | donor_gain | 1.0000 |
| 10:112432529:CAG:C | acceptor_gain | 1.0000 |
| 10:112432530:A:T | acceptor_gain | 1.0000 |
| 10:112433239:CA:C | donor_gain | 1.0000 |
| 10:112433239:CACTT:C | donor_gain | 1.0000 |
| 10:112443613:A:T | acceptor_gain | 1.0000 |
| 10:112447463:GCCTG:G | donor_gain | 1.0000 |
| 10:112425337:GAA:G | acceptor_gain | 0.9900 |
| 10:112425469:G:T | donor_gain | 0.9900 |
| 10:112425479:CGGG:C | donor_loss | 0.9900 |
| 10:112425480:GG:G | donor_gain | 0.9900 |
| 10:112425481:GG:G | donor_gain | 0.9900 |
| 10:112425481:GGT:G | donor_loss | 0.9900 |
| 10:112425482:GT:G | donor_loss | 0.9900 |
| 10:112425483:T:A | donor_loss | 0.9900 |
| 10:112426255:T:G | acceptor_gain | 0.9900 |
AlphaMissense
2737 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 10:112442279:G:C | F144L | 1.000 |
| 10:112442279:G:T | F144L | 1.000 |
| 10:112442281:A:G | F144L | 1.000 |
| 10:112442306:A:C | C135W | 1.000 |
| 10:112442320:A:G | W131R | 1.000 |
| 10:112442320:A:T | W131R | 1.000 |
| 10:112442324:A:C | C129W | 1.000 |
| 10:112442325:C:T | C129Y | 1.000 |
| 10:112442326:A:G | C129R | 1.000 |
| 10:112442327:G:C | H128Q | 1.000 |
| 10:112442327:G:T | H128Q | 1.000 |
| 10:112442329:G:C | H128D | 1.000 |
| 10:112442330:A:C | H127Q | 1.000 |
| 10:112442330:A:T | H127Q | 1.000 |
| 10:112442332:G:C | H127D | 1.000 |
| 10:112442334:T:A | D126V | 1.000 |
| 10:112442334:T:G | D126A | 1.000 |
| 10:112442335:C:G | D126H | 1.000 |
| 10:112443529:G:C | C115W | 1.000 |
| 10:112443530:C:G | C115S | 1.000 |
| 10:112443530:C:T | C115Y | 1.000 |
| 10:112443531:A:G | C115R | 1.000 |
| 10:112443531:A:T | C115S | 1.000 |
| 10:112443532:G:C | H114Q | 1.000 |
| 10:112443532:G:T | H114Q | 1.000 |
| 10:112443534:G:C | H114D | 1.000 |
| 10:112443537:G:C | H113D | 1.000 |
| 10:112443550:C:A | K108N | 1.000 |
| 10:112443550:C:G | K108N | 1.000 |
| 10:112430887:A:G | W387R | 0.999 |
dbSNP variants (sampled 300 via entrez): RS1000017846 (10:112424036 T>C,G), RS1000033978 (10:112447241 G>A,T), RS1000352319 (10:112444770 A>T), RS1000355422 (10:112427579 G>C), RS1000384943 (10:112444394 CTTTATAG>C), RS1000407957 (10:112427931 T>A), RS1000411159 (10:112440793 A>G), RS1000689173 (10:112426117 T>C,G), RS1000718159 (10:112445988 C>T), RS1000825096 (10:112426445 A>C), RS1001067276 (10:112438423 C>T), RS1001093584 (10:112438845 A>G), RS1001173364 (10:112440498 T>A,C), RS1001236926 (10:112439275 A>G), RS1001391107 (10:112432485 A>G)
Disease associations
OMIM: gene MIM:618715 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
3 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST008949_1 | High chromosomal aberration frequency (chromosome type) in genotoxic compound exposure | 3.000000e-06 |
| GCST009391_1695 | Metabolite levels | 4.000000e-06 |
| GCST90002379_84 | Basophil count | 2.000000e-09 |
EFO canonical traits (3, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0009861 | chromosome-type aberration frequency |
| EFO:0010344 | cholesteryl ester 18:1 measurement |
| EFO:0005090 | basophil count |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
GtoPdb / IUPHAR curated pharmacology
(IUPHAR/BPS Guide to Pharmacology — expert-curated)
Target class: enzyme — 2.3.1.- Acyltransferases
CTD chemical–gene interactions
18 total (human), top 18 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Valproic Acid | affects expression, increases expression | 3 |
| aristolochic acid I | decreases expression | 1 |
| sodium arsenite | affects methylation | 1 |
| beta-methylcholine | affects expression | 1 |
| di-n-butylphosphoric acid | affects expression | 1 |
| deguelin | decreases expression | 1 |
| (+)-JQ1 compound | decreases expression | 1 |
| Arsenic Trioxide | increases expression | 1 |
| Leflunomide | decreases expression | 1 |
| Acetaminophen | increases expression | 1 |
| Air Pollutants | affects expression, increases abundance | 1 |
| Coumestrol | increases expression | 1 |
| Doxorubicin | decreases expression | 1 |
| Ozone | affects expression, increases abundance | 1 |
| Smoke | decreases expression | 1 |
| Thiram | decreases expression | 1 |
| Tobacco Smoke Pollution | increases expression | 1 |
| Cyclosporine | 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_B2LP | Abcam HeLa ZDHHC6 KO | Cancer cell line | Female |
| CVCL_TZ02 | HAP1 ZDHHC6 (-) 1 | Cancer cell line | Male |
| CVCL_TZ03 | HAP1 ZDHHC6 (-) 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.