ZDHHC16
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Also known as APH2
Summary
ZDHHC16 (zDHHC palmitoyltransferase 16, HGNC:20714) is a protein-coding gene on chromosome 10q24.1, encoding Palmitoyltransferase ZDHHC16 (Q969W1). Palmitoyl acyltransferase that mediates palmitoylation of proteins such as PLN and ZDHHC6.
Enables palmitoyltransferase activity. Involved in protein palmitoylation. Predicted to be located in endoplasmic reticulum membrane. Predicted to be active in Golgi apparatus.
Source: NCBI Gene 84287 — RefSeq curated summary.
At a glance
- Gene–disease (curated): neurodevelopmental disorder (Moderate, GenCC)
- GWAS associations: 2
- Clinical variants (ClinVar): 62 total — 2 pathogenic
- MANE Select transcript:
NM_198046
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:20714 |
| Approved symbol | ZDHHC16 |
| Name | zDHHC palmitoyltransferase 16 |
| Location | 10q24.1 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | APH2 |
| Ensembl gene | ENSG00000171307 |
| Ensembl biotype | protein_coding |
| OMIM | 616750 |
| Entrez | 84287 |
Gene structure
Transcript identifiers
Ensembl transcripts: 51 — 44 protein_coding, 7 protein_coding_CDS_not_defined
ENST00000345745, ENST00000352634, ENST00000353979, ENST00000370842, ENST00000370846, ENST00000370854, ENST00000393760, ENST00000414567, ENST00000417044, ENST00000420089, ENST00000433086, ENST00000459777, ENST00000462924, ENST00000466895, ENST00000487315, ENST00000492610, ENST00000492733, ENST00000495735, ENST00000862039, ENST00000862040, ENST00000862041, ENST00000862042, ENST00000862043, ENST00000862044, ENST00000862045, ENST00000862046, ENST00000862047, ENST00000862048, ENST00000862049, ENST00000862050, ENST00000862051, ENST00000862052, ENST00000862053, ENST00000862054, ENST00000862055, ENST00000862056, ENST00000862057, ENST00000862058, ENST00000916030, ENST00000916031, ENST00000951305, ENST00000951306, ENST00000951307, ENST00000951308, ENST00000951309, ENST00000951310, ENST00000951311, ENST00000951312, ENST00000951313, ENST00000951314, ENST00000951315
RefSeq mRNA: 7 — MANE Select: NM_198046
NM_001287803, NM_001287804, NM_032327, NM_198043, NM_198044, NM_198045, NM_198046
CCDS: CCDS73176, CCDS7460, CCDS7461, CCDS7462, CCDS7463
Canonical transcript exons
ENST00000393760 — 12 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001453754 | 97446175 | 97446353 |
| ENSE00001516435 | 97450357 | 97450536 |
| ENSE00003476610 | 97453530 | 97453663 |
| ENSE00003503376 | 97454714 | 97454799 |
| ENSE00003526332 | 97452090 | 97452284 |
| ENSE00003533038 | 97452415 | 97452503 |
| ENSE00003538136 | 97452895 | 97452923 |
| ENSE00003553327 | 97453799 | 97453846 |
| ENSE00003554372 | 97455974 | 97456044 |
| ENSE00003583695 | 97451671 | 97451918 |
| ENSE00003657439 | 97455660 | 97455783 |
| ENSE00003893408 | 97456777 | 97457370 |
Expression profiles
Bgee: expression breadth ubiquitous, 255 present calls, max score 97.45.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 21.0477 / max 148.7481, expressed in 1805 samples.
FANTOM5 promoters (2 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 106434 | 18.0605 | 1805 |
| 106435 | 2.9872 | 1487 |
Top tissues by expression
256 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| pancreatic ductal cell | CL:0002079 | 97.45 | gold quality |
| parotid gland | UBERON:0001831 | 96.25 | gold quality |
| stromal cell of endometrium | CL:0002255 | 92.94 | gold quality |
| metanephros cortex | UBERON:0010533 | 92.19 | gold quality |
| mucosa of transverse colon | UBERON:0004991 | 92.17 | gold quality |
| adenohypophysis | UBERON:0002196 | 92.00 | gold quality |
| ileal mucosa | UBERON:0000331 | 91.67 | gold quality |
| body of pancreas | UBERON:0001150 | 91.59 | gold quality |
| saliva-secreting gland | UBERON:0001044 | 91.57 | gold quality |
| tibialis anterior | UBERON:0001385 | 91.43 | gold quality |
| middle temporal gyrus | UBERON:0002771 | 91.43 | gold quality |
| epithelial cell of pancreas | CL:0000083 | 91.41 | silver quality |
| upper lobe of left lung | UBERON:0008952 | 91.36 | gold quality |
| minor salivary gland | UBERON:0001830 | 91.21 | gold quality |
| upper lobe of lung | UBERON:0008948 | 91.21 | gold quality |
| body of stomach | UBERON:0001161 | 91.20 | gold quality |
| right hemisphere of cerebellum | UBERON:0014890 | 90.82 | gold quality |
| oocyte | CL:0000023 | 90.75 | gold quality |
| rectum | UBERON:0001052 | 90.75 | gold quality |
| pituitary gland | UBERON:0000007 | 90.73 | gold quality |
| lower esophagus mucosa | UBERON:0035834 | 90.71 | gold quality |
| pancreas | UBERON:0001264 | 90.70 | gold quality |
| primordial germ cell in gonad | CL:0000670 ∩ UBERON:0000991 | 90.67 | gold quality |
| islet of Langerhans | UBERON:0000006 | 90.67 | gold quality |
| apex of heart | UBERON:0002098 | 90.62 | gold quality |
| right lobe of liver | UBERON:0001114 | 90.56 | gold quality |
| placenta | UBERON:0001987 | 90.55 | gold quality |
| stomach | UBERON:0000945 | 90.41 | gold quality |
| right lobe of thyroid gland | UBERON:0001119 | 90.29 | gold quality |
| cerebellar hemisphere | UBERON:0002245 | 90.14 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 9.00 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
34 targeting ZDHHC16, 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-34A-5P | 99.99 | 71.21 | 1784 |
| HSA-MIR-449A | 99.99 | 71.05 | 1776 |
| HSA-MIR-34C-5P | 99.97 | 70.45 | 1577 |
| HSA-MIR-449B-5P | 99.97 | 70.26 | 1580 |
| HSA-MIR-22-3P | 99.93 | 68.13 | 917 |
| HSA-MIR-497-5P | 99.92 | 71.83 | 2674 |
| HSA-MIR-15A-5P | 99.90 | 72.80 | 2787 |
| HSA-MIR-15B-5P | 99.90 | 72.78 | 2798 |
| HSA-MIR-16-5P | 99.90 | 72.80 | 2780 |
| HSA-MIR-195-5P | 99.90 | 72.81 | 2805 |
| HSA-MIR-6838-5P | 99.89 | 71.94 | 2690 |
| HSA-MIR-424-5P | 99.89 | 71.90 | 2641 |
| HSA-MIR-4659A-3P | 99.80 | 72.62 | 4248 |
| HSA-MIR-4659B-3P | 99.80 | 72.62 | 4248 |
| HSA-MIR-3934-5P | 99.67 | 64.04 | 846 |
| HSA-MIR-18A-3P | 99.56 | 65.68 | 1092 |
| HSA-MIR-6081 | 99.48 | 66.07 | 1446 |
| HSA-MIR-1324 | 99.46 | 66.57 | 1302 |
| HSA-MIR-4251 | 99.40 | 69.19 | 3363 |
| HSA-MIR-3182 | 99.40 | 68.15 | 2454 |
| HSA-MIR-4786-3P | 99.36 | 68.35 | 1390 |
| HSA-MIR-4999-5P | 99.35 | 69.15 | 926 |
| HSA-MIR-4254 | 99.11 | 65.15 | 1315 |
| HSA-MIR-5197-3P | 98.71 | 67.05 | 1905 |
| HSA-MIR-6830-3P | 98.62 | 68.07 | 1760 |
| HSA-MIR-4718 | 98.55 | 68.61 | 814 |
| HSA-MIR-6792-5P | 98.39 | 68.16 | 1330 |
| HSA-MIR-4443 | 98.02 | 66.25 | 1928 |
| HSA-MIR-4468 | 98.01 | 66.85 | 1187 |
| HSA-MIR-6787-3P | 97.75 | 66.17 | 1233 |
Literature-anchored findings (GeneRIF, showing 4)
- APH2 contains a zf-DHHC domain (148-210aa), which is involved in protein-protein or protein-DNA interaction. (PMID:17123647)
- human ZDHHC6, which modifies key proteins of the endoplasmic reticulum, is controlled by an upstream palmitoyltransferase, ZDHHC16, revealing the first palmitoylation cascade. (PMID:28826475)
- SETD2 Palmitoylation Mediated by ZDHHC16 in Epidermal Growth Factor Receptor-Mutated Glioblastoma Promotes Ionizing Radiation-Induced DNA Damage. (PMID:35192890)
- METTL3-mediated m6A modification enhances ZDHHC16 expression in nonsmall- cell lung cancer patients, attenuating ferroptosis by suppressing CREB ubiquitination. (PMID:38430044)
Cross-species orthologs
5 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | zdhhc16a | ENSDARG00000007808 |
| danio_rerio | zdhhc16b | ENSDARG00000015989 |
| mus_musculus | Zdhhc16 | ENSMUSG00000025157 |
| rattus_norvegicus | Zdhhc16 | ENSRNOG00000046530 |
| drosophila_melanogaster | CG5880 | FBGN0039489 |
Protein
Protein identifiers
Palmitoyltransferase ZDHHC16 — Q969W1 (reviewed: Q969W1)
Alternative names: Abl-philin 2, Zinc finger DHHC domain-containing protein 16
All UniProt accessions (6): B1AMT9, B1AMU0, B1AMU5, Q969W1, H0Y536, H0Y6E9
UniProt curated annotations — full annotation on UniProt →
Function. Palmitoyl acyltransferase that mediates palmitoylation of proteins such as PLN and ZDHHC6. Required during embryonic heart development and cardiac function, possibly by mediating palmitoylation of PLN, thereby affecting PLN phosphorylation and homooligomerization. Also required for eye development. Palmitoylates ZDHHC6, affecting the quaternary assembly of ZDHHC6, its localization, stability and function. May play a role in DNA damage response. May be involved in apoptosis regulation. Involved in the proliferation of neural stem cells by regulating the FGF/ERK pathway.
Subunit / interactions. Interacts with ABL1. Interacts with COPS5/JAB1.
Subcellular location. Endoplasmic reticulum membrane.
Tissue specificity. Widely expressed.
Domain organisation. The DHHC domain is required for palmitoyltransferase activity.
Similarity. Belongs to the DHHC palmitoyltransferase family.
Isoforms (4)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q969W1-1 | 1 | yes |
| Q969W1-2 | 2 | |
| Q969W1-3 | 3 | |
| Q969W1-4 | 4 |
RefSeq proteins (7): NP_001274732, NP_001274733, NP_115703, NP_932160, NP_932161, NP_932162, NP_932163* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR001594 | Palmitoyltrfase_DHHC | Domain |
| IPR039859 | PFA4/ZDH16/20/ERF2-like | Family |
Pfam: PF01529
Enzyme classification (BRENDA):
- EC 2.3.1.225 — protein S-acyltransferase (BRENDA: 9 organisms, 108 substrates, 15 inhibitors, 6 Km, 0 kcat entries)
Substrate kinetics (BRENDA)
2 substrates with measured Km, best-characterized 2. Km ranges are aggregated across organisms/conditions.
| Substrate | Km (mM) | Measurements |
|---|---|---|
| PALMITOYL-COA | 0.0052–0.0059 | 2 |
| [N-MYRISTOYLATED GLY-CYS-GLY TRIPEPTIDE]-L-CYSTE | 0.0008–0.0013 | 2 |
Catalyzed reactions (Rhea), 1 shown:
- L-cysteinyl-[protein] + hexadecanoyl-CoA = S-hexadecanoyl-L-cysteinyl-[protein] + CoA (RHEA:36683)
UniProt features (15 total): topological domain 5, transmembrane region 4, splice variant 3, chain 1, domain 1, active site 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q969W1-F1 | 87.96 | 0.67 |
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): 185 (s-palmitoyl cysteine intermediate)
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 89 (showing top):
STARK_PREFRONTAL_CORTEX_22Q11_DELETION_DN, GOBP_FOREBRAIN_DEVELOPMENT, GOBP_DNA_DAMAGE_RESPONSE, GARY_CD5_TARGETS_DN, GOBP_HEAD_DEVELOPMENT, MARTINEZ_RESPONSE_TO_TRABECTEDIN_DN, GOBP_SENSORY_ORGAN_DEVELOPMENT, TGCCTTA_MIR124A, GOBP_TELENCEPHALON_DEVELOPMENT, GOBP_CIRCULATORY_SYSTEM_DEVELOPMENT, GOCC_NUCLEAR_OUTER_MEMBRANE_ENDOPLASMIC_RETICULUM_MEMBRANE_NETWORK, GOCC_ORGANELLE_SUBCOMPARTMENT, GOMF_S_ACYLTRANSFERASE_ACTIVITY, GOMF_PALMITOYLTRANSFERASE_ACTIVITY, GOMF_ACYLTRANSFERASE_ACTIVITY
GO Biological Process (6): eye development (GO:0001654), apoptotic process (GO:0006915), DNA damage response (GO:0006974), heart development (GO:0007507), telencephalon development (GO:0021537), fibroblast growth factor receptor signaling pathway involved in forebrain neuron fate commitment (GO:0021899)
GO Molecular Function (5): palmitoyltransferase activity (GO:0016409), protein-cysteine S-palmitoyltransferase activity (GO:0019706), protein binding (GO:0005515), transferase activity (GO:0016740), acyltransferase activity (GO:0016746)
GO Cellular Component (4): endoplasmic reticulum membrane (GO:0005789), Golgi apparatus (GO:0005794), endoplasmic reticulum (GO:0005783), membrane (GO:0016020)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cytoplasm | 2 |
| endomembrane system | 2 |
| intracellular membrane-bounded organelle | 2 |
| sensory organ development | 1 |
| visual system development | 1 |
| programmed cell death | 1 |
| apoptotic signaling pathway | 1 |
| execution phase of apoptosis | 1 |
| cellular response to stress | 1 |
| animal organ development | 1 |
| circulatory system development | 1 |
| forebrain development | 1 |
| anatomical structure development | 1 |
| fibroblast growth factor receptor signaling pathway | 1 |
| forebrain neuron fate commitment | 1 |
| commitment of multipotent stem cells to neuronal lineage in forebrain | 1 |
| acyltransferase activity, transferring groups other than amino-acyl groups | 1 |
| palmitoyltransferase activity | 1 |
| protein-cysteine S-acyltransferase 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
640 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| ZDHHC16 | ABL1 | P00519 | 750 |
| ZDHHC16 | ZDHHC5 | Q9C0B5 | 545 |
| ZDHHC16 | ZDHHC3 | Q9NYG2 | 542 |
| ZDHHC16 | LYPLA2 | O95372 | 516 |
| ZDHHC16 | ABHD17A | Q96GS6 | 505 |
| ZDHHC16 | GOLGA7 | Q7Z5G4 | 490 |
| ZDHHC16 | LYPLA1 | O75608 | 474 |
| ZDHHC16 | ZDHHC21 | Q8IVQ6 | 474 |
| ZDHHC16 | PPT2 | Q9UMR5 | 430 |
| ZDHHC16 | GOLGA7B | Q2TAP0 | 427 |
| ZDHHC16 | ZDHHC13 | Q8IUH4 | 427 |
| ZDHHC16 | PGP | A6NDG6 | 423 |
| ZDHHC16 | ZDHHC8 | Q9ULC8 | 422 |
| ZDHHC16 | PPT1 | P50897 | 412 |
| ZDHHC16 | DCUN1D2 | Q6PH85 | 411 |
IntAct
11 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| TMED8 | ZDHHC16 | psi-mi:“MI:0915”(physical association) | 0.560 |
| YIF1A | ZDHHC16 | psi-mi:“MI:0915”(physical association) | 0.560 |
| ZDHHC16 | CRYAA | psi-mi:“MI:0915”(physical association) | 0.400 |
| ZDHHC16 | MTNR1A | psi-mi:“MI:0915”(physical association) | 0.370 |
| CCL1 | ZDHHC16 | psi-mi:“MI:0915”(physical association) | 0.370 |
| ZDHHC16 | PCK1 | psi-mi:“MI:0914”(association) | 0.350 |
| TMED8 | ZDHHC16 | psi-mi:“MI:0915”(physical association) | 0.000 |
| YIF1A | ZDHHC16 | psi-mi:“MI:0915”(physical association) | 0.000 |
BioGRID (11): ZDHHC16 (Two-hybrid), ZDHHC16 (Two-hybrid), YIF1A (Two-hybrid), ZDHHC16 (Two-hybrid), ZDHHC16 (Affinity Capture-Western), ZDHHC16 (Affinity Capture-RNA), CRYAA (Affinity Capture-MS), PCK1 (Affinity Capture-MS), PDXP (Affinity Capture-MS), ZDHHC16 (Protein-RNA), ZDHHC16 (Affinity Capture-RNA)
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: A0A0R4IF99, A5WVX9, B8A4F0, E7F587, E9PTT0, F1Q7H8, F1QXD3, P0CS66, P0CS67, P42836, P59267, Q2TGJ4, Q2TGK3, Q4R7E2, Q552M6, Q58CU4, Q58DT3, Q59QL0, Q5ADN9, Q5W0Z9, Q6BHT4, Q6C4W5, Q6DHI1, Q6FW70, Q6FXC6, Q80TN5, Q8BGJ0, Q8IUH5, Q8R173, Q8VYP5, Q91WU6, Q923G5, Q969W1, Q96MV8, Q9ESG8, Q9FLM3, Q9JKR5, Q9M1K5, Q9M306, Q9NXF8
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
62 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 2 |
| Likely pathogenic | 0 |
| Uncertain significance | 53 |
| Likely benign | 2 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (2)
| Variant ID | HGVS | Classification |
|---|---|---|
| 3024558 | NM_198046.3(ZDHHC16):c.556+2T>C | Pathogenic |
| 3024564 | NM_198046.3(ZDHHC16):c.1118_1119del (p.Ser373fs) | Pathogenic |
SpliceAI
1867 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 10:97451914:GAGTG:G | donor_gain | 1.0000 |
| 10:97451916:GTG:G | donor_gain | 1.0000 |
| 10:97451917:TGG:T | donor_loss | 1.0000 |
| 10:97451919:G:GG | donor_gain | 1.0000 |
| 10:97451920:T:A | donor_loss | 1.0000 |
| 10:97453583:T:A | acceptor_gain | 1.0000 |
| 10:97453592:A:AG | acceptor_gain | 1.0000 |
| 10:97453592:AT:A | acceptor_gain | 1.0000 |
| 10:97453593:T:G | acceptor_gain | 1.0000 |
| 10:97453797:A:AG | acceptor_gain | 1.0000 |
| 10:97453798:G:GG | acceptor_gain | 1.0000 |
| 10:97454712:A:AG | acceptor_gain | 1.0000 |
| 10:97454713:G:GG | acceptor_gain | 1.0000 |
| 10:97454713:GACTT:G | acceptor_gain | 1.0000 |
| 10:97455658:A:AG | acceptor_gain | 1.0000 |
| 10:97455659:G:GG | acceptor_gain | 1.0000 |
| 10:97455659:GTTCT:G | acceptor_gain | 1.0000 |
| 10:97455712:A:AG | acceptor_gain | 1.0000 |
| 10:97455713:G:GG | acceptor_gain | 1.0000 |
| 10:97455779:GCAGA:G | donor_gain | 1.0000 |
| 10:97455782:GA:G | donor_gain | 1.0000 |
| 10:97455784:G:GG | donor_gain | 1.0000 |
| 10:97446351:CAGGT:C | donor_loss | 0.9900 |
| 10:97446352:AGG:A | donor_loss | 0.9900 |
| 10:97446353:GGTA:G | donor_loss | 0.9900 |
| 10:97446354:GTAA:G | donor_loss | 0.9900 |
| 10:97451917:TG:T | donor_gain | 0.9900 |
| 10:97451918:GG:G | donor_gain | 0.9900 |
| 10:97452281:CCAG:C | donor_loss | 0.9900 |
| 10:97452282:CAG:C | donor_loss | 0.9900 |
AlphaMissense
2447 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 10:97452445:T:A | C157S | 1.000 |
| 10:97452445:T:C | C157R | 1.000 |
| 10:97452446:G:A | C157Y | 1.000 |
| 10:97452446:G:C | C157S | 1.000 |
| 10:97452468:G:C | K164N | 1.000 |
| 10:97452468:G:T | K164N | 1.000 |
| 10:97452481:C:G | H169D | 1.000 |
| 10:97452486:C:A | H170Q | 1.000 |
| 10:97452486:C:G | H170Q | 1.000 |
| 10:97452487:T:A | C171S | 1.000 |
| 10:97452487:T:C | C171R | 1.000 |
| 10:97452488:G:A | C171Y | 1.000 |
| 10:97452488:G:C | C171S | 1.000 |
| 10:97452488:G:T | C171F | 1.000 |
| 10:97452489:C:G | C171W | 1.000 |
| 10:97452496:T:C | C174R | 1.000 |
| 10:97452497:G:A | C174Y | 1.000 |
| 10:97452498:C:G | C174W | 1.000 |
| 10:97452910:G:A | M181I | 1.000 |
| 10:97452910:G:C | M181I | 1.000 |
| 10:97452910:G:T | M181I | 1.000 |
| 10:97452911:G:C | D182H | 1.000 |
| 10:97452912:A:C | D182A | 1.000 |
| 10:97452912:A:T | D182V | 1.000 |
| 10:97452914:C:A | H183N | 1.000 |
| 10:97452914:C:G | H183D | 1.000 |
| 10:97452915:A:T | H183L | 1.000 |
| 10:97452916:C:A | H183Q | 1.000 |
| 10:97452916:C:G | H183Q | 1.000 |
| 10:97452917:C:A | H184N | 1.000 |
dbSNP variants (sampled 300 via entrez): RS1000058773 (10:97446901 T>A,C), RS1000160925 (10:97450527 G>T), RS1000302752 (10:97455546 G>A,T), RS1000821623 (10:97450157 C>T), RS1001081710 (10:97457417 G>C), RS1001484941 (10:97447304 G>A), RS1001744425 (10:97454184 G>A,C,T), RS1001765543 (10:97455154 A>T), RS1002273091 (10:97448229 A>G), RS1002353746 (10:97455956 T>C), RS1002859793 (10:97446997 C>T), RS1003168469 (10:97446090 C>A,T), RS1003334108 (10:97447216 A>G), RS1003716317 (10:97451806 TCTGC>T), RS1004260260 (10:97449370 A>G)
Disease associations
OMIM: gene MIM:616750 | disease phenotypes:
GenCC curated gene-disease
| Disease | Classification | Inheritance |
|---|---|---|
| neurodevelopmental disorder | Moderate | Autosomal recessive |
Mondo (2): intellectual disability (MONDO:0001071), neurodevelopmental disorder (MONDO:0700092)
Orphanet (1): NON RARE IN EUROPE: Unexplained intellectual disability (Orphanet:319658)
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
2 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST008178_10 | Early spontaneous preterm birth | 3.000000e-06 |
| GCST008180_6 | Spontaneous preterm birth with premature rupture of membranes | 2.000000e-06 |
EFO canonical traits (1, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0006917 | spontaneous preterm birth |
MeSH disease descriptors (2)
| Descriptor | Name | Tree numbers |
|---|---|---|
| D008607 | Intellectual Disability | C10.597.606.360; C23.888.592.604.646; F01.700.687; F03.625.539 |
| D065886 | Neurodevelopmental Disorders | F03.625 |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
30 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Valproic Acid | increases expression, increases methylation, affects expression | 3 |
| Cisplatin | affects expression, increases expression | 2 |
| aristolochic acid I | decreases expression | 1 |
| triphenyl phosphate | affects expression | 1 |
| beta-lapachone | increases expression | 1 |
| tris(1,3-dichloro-2-propyl)phosphate | decreases expression | 1 |
| sodium arsenite | decreases expression | 1 |
| cobaltous chloride | decreases expression | 1 |
| potassium chromate(VI) | affects cotreatment, decreases expression | 1 |
| epigallocatechin gallate | affects cotreatment, decreases expression | 1 |
| di-n-butylphosphoric acid | affects expression | 1 |
| azoxystrobin | decreases expression | 1 |
| deguelin | decreases expression | 1 |
| ICG 001 | increases expression | 1 |
| Resveratrol | affects cotreatment, increases expression | 1 |
| Decitabine | affects expression | 1 |
| Acetaminophen | increases expression | 1 |
| Air Pollutants, Occupational | decreases expression | 1 |
| Atrazine | decreases expression | 1 |
| Benzo(a)pyrene | decreases methylation | 1 |
| Doxorubicin | decreases expression | 1 |
| Nickel | decreases expression | 1 |
| Plant Extracts | increases expression, affects cotreatment | 1 |
| Rotenone | decreases expression | 1 |
| Smoke | decreases expression | 1 |
| Thiram | decreases expression | 1 |
| Tobacco Smoke Pollution | increases expression | 1 |
| Cyclosporine | decreases expression | 1 |
| Copper Sulfate | decreases expression | 1 |
| Acrylamide | 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_TY73 | HAP1 ZDHHC16 (-) 1 | Cancer cell line | Male |
| CVCL_TY74 | HAP1 ZDHHC16 (-) 2 | Cancer cell line | Male |
Clinical trials (associated diseases)
390 trials via MONDO — disease-level, not drug-specific.
| Trial | Phase | Status | Title |
|---|---|---|---|
| NCT04586348 | PHASE4 | UNKNOWN | Prenatal Iodine Supplementation and Early Childhood Neurodevelopment |
| NCT04873115 | PHASE4 | UNKNOWN | Double-blind, Placebo-controlled, Randomized Clinical Trial Comparing the Efficacy and Safety of Sialanar Plus orAl rehabiLitation Against Placebo Plus Oral Rehabilitation for chIldren and Adolescents With seVere Sialorrhoea and Neurodisabilties, |
| NCT05657860 | PHASE4 | COMPLETED | Guanfacine Extended Release for the Reduction of Aggression and Self-injurious Behavior Associated With Prader-Willi Syndrome |
| NCT05744479 | PHASE4 | RECRUITING | Metformin for Antipsychotic-induced Weight Gain in Adults With Intellectual Disability |
| NCT06107829 | PHASE4 | WITHDRAWN | Valbenazine Treatment of Tardive Dyskinesia in Adults With Intellectual/Developmental Disabilities |
| NCT06997198 | PHASE4 | NOT_YET_RECRUITING | Deutetrabenazine Treatment for Tardive Dyskinesia in Intellectual/Developmental Disabilities |
| NCT02559102 | PHASE3 | COMPLETED | Dexmedetomidine Sedation Versus General Anaesthesia for Inguinal Hernia Surgery in Infants |
| NCT02757079 | PHASE3 | COMPLETED | Study of the Efficacy and Safety of NPC-15 for Sleep Disorders of Children With Neurodevelopmental Disorders |
| NCT06915480 | PHASE3 | RECRUITING | Reducing Missed Appointments |
| NCT07377032 | PHASE3 | RECRUITING | TAP-GRIN: Interventional Study on Patients With GRIN-related Neurodevelopmental Disorders |
| NCT02270736 | PHASE3 | COMPLETED | Clinical Study to Investigate the Efficacy and Safety of NT 201 Compared to Placebo in the Treatment of Chronic Troublesome Drooling Associated With Neurological Disorders and/or Intellectual Disability |
| NCT02909959 | PHASE2 | COMPLETED | Sulforaphane for the Treatment of Young Men With Autism Spectrum Disorder |
| NCT06081348 | PHASE2 | RECRUITING | Sertraline vs. Placebo in the Treatment of Anxiety in Children and AdoLescents With NeurodevelopMental Disorders |
| NCT06352372 | PHASE2 | COMPLETED | Safety and Efficacy of tPBM for Epileptiform Activity in Autism |
| NCT02304302 | PHASE2 | COMPLETED | Down Syndrome Memantine Follow-up Study |
| NCT03862950 | PHASE2 | COMPLETED | A Trial of Metformin in Individuals With Fragile X Syndrome (Met) |
| NCT04529226 | PHASE2 | UNKNOWN | Study to Compare Clozapine vs Treatment as Usual in People With Intellectual Disability & Treatment-resistant Psychosis |
| NCT04821856 | PHASE2 | COMPLETED | Evaluation of the Effectiveness of Cannabidiol in Treating Severe Behavioural Problems in Children and Adolescents With Intellectual Disability |
| NCT00503191 | PHASE1 | COMPLETED | NeuroModulation Technique Treatment of Autism |
| NCT04475848 | PHASE1 | COMPLETED | A Study to Investigate the Safety, Tolerability, Pharmacokinetics, Pharmacodynamics and Food Effect of RO6953958 in Healthy Participants |
| NCT06300398 | PHASE1 | COMPLETED | IAMA-6 Oral Dose Study in Healthy Adults |
| NCT05273320 | PHASE1 | COMPLETED | Clinical Trial of Nabilone for Aggression in Adults With Intellectual and Developmental Disabilities |
| NCT05301361 | PHASE1 | ENROLLING_BY_INVITATION | Sensitivity of the NIH Toolbox to Stimulant Treatment in Intellectual Disabilities |
| NCT06016764 | PHASE1 | COMPLETED | Use of MRI and cTBS for Catatonia in Autism |
| NCT06586827 | PHASE1 | COMPLETED | Impact of Competency-Based Training and Technical Assistance Employment Outcomes of Individuals With ID/DD |
| NCT07531940 | PHASE1 | NOT_YET_RECRUITING | Escalating Doses of Memantine in Down Syndrome (MEDS-123) |
| NCT01783041 | PHASE2/PHASE3 | COMPLETED | Effect of Early L-Carnitine Supplementation on Neurodevelopmental Outcomes in Very Preterm Infants |
| NCT05767385 | PHASE2/PHASE3 | RECRUITING | Fetal Cerebrovascular Autoregulation in Congenital Heart Disease and Association With Neonatal Neurobehavior |
| NCT05675098 | EARLY_PHASE1 | NOT_YET_RECRUITING | Central Nervous System Stimulants and Physical Function in Children With Cerebral Palsy |
| NCT00783783 | Not specified | COMPLETED | CYP2D6 Pharmacogenetics in Risperidone-Treated Children |
| NCT01778504 | Not specified | RECRUITING | Studying Childhood-onset Behavioral, Psychiatric, and Developmental Disorders |
| NCT01850784 | Not specified | UNKNOWN | High Energy Formula Feeding in Infants With Congenital Heart Disease |
| NCT01922791 | Not specified | COMPLETED | Nutrition and Pregnancy Intervention Study |
| NCT01942525 | Not specified | UNKNOWN | Influence of Intrauterine Growth Restriction on Amplitude-integrated EEG in Preterm Infants |
| NCT02003170 | Not specified | COMPLETED | Etiology and Early Diagnosis of Neurodevelopmental Disorders |
| NCT02118649 | Not specified | ACTIVE_NOT_RECRUITING | Enhancing Behavior and Brain Response to Visual Targets Using a Computer Game |
| NCT02557191 | Not specified | TERMINATED | Biomarkers, Neurodevelopment and Preterm Infants |
| NCT02690675 | Not specified | COMPLETED | Iron Supplement Effect on Child Development |
| NCT02694003 | Not specified | COMPLETED | Better Nights, Better Days for Children With Neurodevelopment Disorders |
| NCT02792894 | Not specified | COMPLETED | Family Networks (FaNs) for Children With Developmental Disorders and Delays |
Related Atlas pages
- Associated diseases: neurodevelopmental disorder
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): preterm premature rupture of the membranes