DNAJC24
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Also known as JJJ3
Summary
DNAJC24 (DnaJ heat shock protein family (Hsp40) member C24, HGNC:26979) is a protein-coding gene on chromosome 11p13, encoding DnaJ homolog subfamily C member 24 (Q6P3W2). Stimulates the ATPase activity of several Hsp70-type chaperones.
Diphthamide is a unique posttranslationally modified histidine found only in translation elongation factor-2 (EEF2; MIM 130610). This modification is conserved from archaebacteria to humans and serves as the target for ADP-ribosylation and inactivation of EEF2 by diphtheria toxin (DT) and Pseudomonas exotoxin A. DPH4 is 1 of several enzymes involved in synthesis of diphthamide in EEF2 (Liu et al., 2004 [PubMed 15485916]).
Source: NCBI Gene 120526 — RefSeq curated summary.
At a glance
- GWAS associations: 5
- Clinical variants (ClinVar): 36 total — 3 pathogenic, 2 likely-pathogenic
- Phenotypes (HPO): 2
- MANE Select transcript:
NM_181706
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:26979 |
| Approved symbol | DNAJC24 |
| Name | DnaJ heat shock protein family (Hsp40) member C24 |
| Location | 11p13 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | JJJ3 |
| Ensembl gene | ENSG00000170946 |
| Ensembl biotype | protein_coding |
| OMIM | 611072 |
| Entrez | 120526 |
Gene structure
Transcript identifiers
Ensembl transcripts: 13 — 5 nonsense_mediated_decay, 4 protein_coding_CDS_not_defined, 3 protein_coding, 1 retained_intron
ENST00000395949, ENST00000465995, ENST00000524747, ENST00000525511, ENST00000526042, ENST00000526529, ENST00000527601, ENST00000527731, ENST00000529086, ENST00000530125, ENST00000532385, ENST00000910452, ENST00000910453
RefSeq mRNA: 1 — MANE Select: NM_181706
NM_181706
CCDS: CCDS7873
Canonical transcript exons
ENST00000465995 — 5 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001916957 | 31430271 | 31432835 |
| ENSE00003540278 | 31426287 | 31426355 |
| ENSE00003555370 | 31370716 | 31370859 |
| ENSE00003578437 | 31414811 | 31414949 |
| ENSE00003849117 | 31369860 | 31369912 |
Expression profiles
Bgee: expression breadth ubiquitous, 288 present calls, max score 93.07.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 14.8566 / max 531.8351, expressed in 1758 samples.
FANTOM5 promoters (4 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 113594 | 13.6336 | 1745 |
| 113593 | 0.9142 | 492 |
| 113592 | 0.2554 | 83 |
| 113595 | 0.0534 | 10 |
Top tissues by expression
294 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| heart right ventricle | UBERON:0002080 | 93.07 | gold quality |
| endothelial cell | CL:0000115 | 92.80 | gold quality |
| Brodmann (1909) area 23 | UBERON:0013554 | 92.30 | gold quality |
| biceps brachii | UBERON:0001507 | 91.30 | gold quality |
| skeletal muscle tissue of biceps brachii | UBERON:0004502 | 90.65 | gold quality |
| calcaneal tendon | UBERON:0003701 | 90.30 | gold quality |
| ventricular zone | UBERON:0003053 | 88.68 | gold quality |
| body of pancreas | UBERON:0001150 | 87.91 | gold quality |
| choroid plexus epithelium | UBERON:0003911 | 87.79 | gold quality |
| CA1 field of hippocampus | UBERON:0003881 | 87.78 | gold quality |
| left testis | UBERON:0004533 | 86.92 | gold quality |
| skeletal muscle tissue of rectus abdominis | UBERON:0004511 | 86.80 | gold quality |
| dorsal motor nucleus of vagus nerve | UBERON:0002870 | 86.62 | gold quality |
| skin of hip | UBERON:0001554 | 86.45 | gold quality |
| buccal mucosa cell | CL:0002336 | 86.44 | gold quality |
| right testis | UBERON:0004534 | 86.32 | gold quality |
| nephron tubule | UBERON:0001231 | 86.19 | gold quality |
| pancreas | UBERON:0001264 | 85.98 | gold quality |
| islet of Langerhans | UBERON:0000006 | 85.59 | gold quality |
| renal glomerulus | UBERON:0000074 | 85.55 | gold quality |
| hindlimb stylopod muscle | UBERON:0004252 | 85.28 | gold quality |
| testis | UBERON:0000473 | 85.22 | gold quality |
| muscle of leg | UBERON:0001383 | 85.11 | gold quality |
| sperm | CL:0000019 | 84.97 | gold quality |
| gastrocnemius | UBERON:0001388 | 84.95 | gold quality |
| secondary oocyte | CL:0000655 | 84.88 | gold quality |
| middle temporal gyrus | UBERON:0002771 | 84.84 | gold quality |
| cranial nerve II | UBERON:0000941 | 84.75 | gold quality |
| primary visual cortex | UBERON:0002436 | 84.68 | gold quality |
| muscle organ | UBERON:0001630 | 84.61 | gold quality |
Single-cell (SCXA)
Detected in 2 experiment(s), a significant marker in 2.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-MTAB-9388 | yes | 6.53 |
| E-ANND-3 | yes | 5.78 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
99 targeting DNAJC24, 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-5692A | 100.00 | 74.40 | 6850 |
| HSA-MIR-4789-3P | 99.99 | 70.75 | 2484 |
| HSA-MIR-186-5P | 99.99 | 70.83 | 3707 |
| HSA-MIR-34A-5P | 99.99 | 71.21 | 1784 |
| HSA-MIR-449A | 99.99 | 71.05 | 1776 |
| HSA-MIR-4789-5P | 99.98 | 70.76 | 2721 |
| HSA-MIR-485-3P | 99.98 | 70.68 | 1585 |
| HSA-MIR-539-3P | 99.98 | 70.74 | 1616 |
| HSA-MIR-3148 | 99.97 | 75.06 | 6478 |
| HSA-MIR-34C-5P | 99.97 | 70.45 | 1577 |
| HSA-MIR-449B-5P | 99.97 | 70.26 | 1580 |
| 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-424-5P | 99.89 | 71.90 | 2641 |
| HSA-MIR-6838-5P | 99.89 | 71.94 | 2690 |
| HSA-MIR-6780A-5P | 99.88 | 66.69 | 2776 |
| HSA-MIR-8062 | 99.88 | 68.43 | 995 |
| HSA-MIR-4728-5P | 99.85 | 69.39 | 4718 |
| HSA-MIR-5010-3P | 99.83 | 70.60 | 2357 |
| HSA-MIR-6785-5P | 99.82 | 68.68 | 4428 |
| HSA-MIR-8076 | 99.78 | 68.52 | 1170 |
| HSA-MIR-1273H-5P | 99.77 | 66.32 | 2471 |
| HSA-MIR-4428 | 99.73 | 66.41 | 1733 |
| HSA-MIR-8084 | 99.73 | 69.57 | 1760 |
| HSA-MIR-4422 | 99.72 | 72.07 | 2908 |
| HSA-MIR-4677-5P | 99.70 | 70.09 | 1940 |
| HSA-MIR-30B-3P | 99.70 | 65.76 | 2325 |
Literature-anchored findings (GeneRIF, showing 3)
- We report here the solution structure and mechanism of novel iron-mediated functional roles of human Dph4, a type III J-protein playing a vital role in diphthamide biosynthesis and normal development. (PMID:22367199)
- immunotoxin resistance is associated with reversible CpG island methylation and silencing of DPH4 gene transcription (PMID:22509046)
- DNAJC24 acts directly with PCNA and promotes malignant progression of LUAD by activating phosphorylation of AKT. (PMID:38713100)
Cross-species orthologs
12 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | dnajc24 | ENSDARG00000023927 |
| mus_musculus | Dnajc24 | ENSMUSG00000027166 |
| rattus_norvegicus | Dnajc24 | ENSRNOG00000004842 |
| drosophila_melanogaster | CG10565 | FBGN0037051 |
| drosophila_melanogaster | P58IPK | FBGN0037718 |
| drosophila_melanogaster | l(3)80Fg | FBGN0287183 |
| caenorhabditis_elegans | WBGENE00001020 | |
| caenorhabditis_elegans | WBGENE00001025 | |
| caenorhabditis_elegans | WBGENE00001026 | |
| caenorhabditis_elegans | WBGENE00001029 | |
| caenorhabditis_elegans | dnj-28 | WBGENE00001046 |
| caenorhabditis_elegans | WBGENE00008122 |
Paralogs (20): DNAJC11 (ENSG00000007923), DNAJC25 (ENSG00000059769), DNAJC10 (ENSG00000077232), DNAJC5 (ENSG00000101152), DNAJC3 (ENSG00000102580), DNAJC17 (ENSG00000104129), DNAJC2 (ENSG00000105821), DNAJC12 (ENSG00000108176), DNAJC4 (ENSG00000110011), DNAJC16 (ENSG00000116138), DNAJC14 (ENSG00000135392), DNAJC1 (ENSG00000136770), DNAJC13 (ENSG00000138246), DNAJC5B (ENSG00000147570), DNAJC5G (ENSG00000163793), DNAJC7 (ENSG00000168259), DNAJC21 (ENSG00000168724), DNAJC18 (ENSG00000170464), DNAJC30 (ENSG00000176410), DNAJC9 (ENSG00000213551)
Protein
Protein identifiers
DnaJ homolog subfamily C member 24 — Q6P3W2 (reviewed: Q6P3W2)
Alternative names: CSL-type zinc finger-containing protein 3, Diphthamide biosynthesis protein 4
All UniProt accessions (5): E9PID3, E9PRW3, Q6P3W2, H0YCV1, J3KPT8
UniProt curated annotations — full annotation on UniProt →
Function. Stimulates the ATPase activity of several Hsp70-type chaperones. This ability is enhanced by iron-binding. The iron-bound form is redox-active and can function as electron carrier. Plays a role in the diphthamide biosynthesis, a post-translational modification of histidine which occurs in translation elongation factor 2 (EEF2) which can be ADP-ribosylated by diphtheria toxin and by Pseudomonas exotoxin A (Eta).
Subunit / interactions. Monomer and homooligomer. Iron binding promotes oligomerization.
Subcellular location. Cytoplasm. Cytoskeleton.
Domain organisation. The DPH-type metal-binding (MB) domain can bind either zinc or iron ions.
Pathway. Protein modification; peptidyl-diphthamide biosynthesis.
Similarity. Belongs to the DPH4 family.
Isoforms (2)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q6P3W2-1 | 1 | yes |
| Q6P3W2-2 | 2 |
RefSeq proteins (1): NP_859057* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR001623 | DnaJ_domain | Domain |
| IPR007872 | DPH_MB_dom | Domain |
| IPR036671 | DPH_MB_sf | Homologous_superfamily |
| IPR036869 | J_dom_sf | Homologous_superfamily |
Pfam: PF00226, PF05207
UniProt features (27 total): strand 9, helix 5, binding site 4, turn 3, domain 2, chain 1, splice variant 1, sequence variant 1, mutagenesis site 1
Structure
Experimental structures (PDB)
1 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 2L6L | SOLUTION NMR |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q6P3W2-F1 | 74.66 | 0.00 |
Functional residue map
Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.
Ligand- & substrate-binding residues (4): 115; 117; 136; 139
Mutagenesis-validated functional residues (1):
| Position | Phenotype |
|---|---|
| 139 | loss of iron-binding. |
Function
Pathways and Gene Ontology
Reactome pathways
1 pathways
| ID | Pathway |
|---|---|
| R-HSA-5358493 | Synthesis of diphthamide-EEF2 |
MSigDB gene sets: 111 (showing top):
AMIT_EGF_RESPONSE_60_HELA, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_DN, BROWNE_HCMV_INFECTION_16HR_UP, PUJANA_CHEK2_PCC_NETWORK, GOBP_PROTEIN_MATURATION, GOBP_POSITIVE_REGULATION_OF_MOLECULAR_FUNCTION, GOBP_PROTEIN_FOLDING, GOBP_REGULATION_OF_ATP_DEPENDENT_ACTIVITY, GOBP_POSITIVE_REGULATION_OF_ATP_DEPENDENT_ACTIVITY, SCGGAAGY_ELK1_02, GOMF_ATPASE_ACTIVATOR_ACTIVITY, GOMF_ATPASE_REGULATOR_ACTIVITY, GOMF_FERROUS_IRON_BINDING, GOMF_IRON_ION_BINDING, PUIFFE_INVASION_INHIBITED_BY_ASCITES_DN
GO Biological Process (3): protein folding (GO:0006457), protein histidyl modification to diphthamide (GO:0017183), positive regulation of ATP-dependent activity (GO:0032781)
GO Molecular Function (4): ATPase activator activity (GO:0001671), ferrous iron binding (GO:0008198), zinc ion binding (GO:0008270), metal ion binding (GO:0046872)
GO Cellular Component (4): actin cytoskeleton (GO:0015629), cytoplasm (GO:0005737), cytoskeleton (GO:0005856), membrane (GO:0016020)
Reactome top-level categories
Rollup of top-1 pathways:
| Category | Pathways |
|---|---|
| Gamma carboxylation, hypusinylation, hydroxylation, and arylsulfatase activation | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| ATP-dependent activity | 2 |
| cellular anatomical structure | 2 |
| cellular process | 1 |
| protein maturation | 1 |
| peptidyl-histidine modification | 1 |
| regulation of ATP-dependent activity | 1 |
| positive regulation of molecular function | 1 |
| molecular function activator activity | 1 |
| iron ion binding | 1 |
| transition metal ion binding | 1 |
| cation binding | 1 |
| cytoskeleton | 1 |
| intracellular anatomical structure | 1 |
| intracellular membraneless organelle | 1 |
Protein interactions and networks
STRING
2245 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| DNAJC24 | DCDC1 | P59894 | 932 |
| DNAJC24 | IMMP1L | Q96LU5 | 923 |
| DNAJC24 | ELP4 | Q96EB1 | 915 |
| DNAJC24 | DPH2 | Q9BQC3 | 888 |
| DNAJC24 | MPPED2 | Q15777 | 888 |
| DNAJC24 | DPH3 | Q96FX2 | 887 |
| DNAJC24 | DPH1 | Q9BZG8 | 843 |
| DNAJC24 | DPH5 | Q9H2P9 | 810 |
| DNAJC24 | DPH7 | Q9BTV6 | 804 |
| DNAJC24 | EEF2 | P13639 | 782 |
| DNAJC24 | DPH6 | Q7L8W6 | 747 |
| DNAJC24 | DNAJC21 | Q5F1R6 | 669 |
| DNAJC24 | PAX6 | P26367 | 655 |
| DNAJC24 | DNAJC28 | Q9NX36 | 610 |
| DNAJC24 | DNAJC2 | Q99543 | 557 |
IntAct
2 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| DNAJC24 | DNAJA2 | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (12): DNAJC24 (Biochemical Activity), DNAJC24 (Affinity Capture-MS), DNAJC24 (Positive Genetic), DPH2 (Affinity Capture-MS), CAPRIN1 (Affinity Capture-MS), DPH1 (Proximity Label-MS), DPH2 (Proximity Label-MS), DNAJA2 (Affinity Capture-MS), NUP88 (Affinity Capture-MS), ASPSCR1 (Affinity Capture-MS), DNAJC24 (Affinity Capture-MS), DNAJC24 (Affinity Capture-RNA)
ESM2 similar proteins: A7A283, A7SBN6, B3LUQ4, B5VI68, C4PYP8, C5E4V9, C7GYE7, C8Z7X8, E5KGE0, O13648, O13747, O13827, O14045, O43038, O59709, O74840, O94393, O94536, P12689, P25301, P32849, P35875, P36113, P38748, P43615, P47138, P87143, P87231, Q04149, Q04638, Q08930, Q0VBY7, Q10313, Q12347, Q54CI5, Q5AD49, Q6BPC1, Q6C6T1, Q6CUQ9, Q6FWM1
Diamond homologs: A0A0P0VG31, A0AIS3, A3N3J9, A4XKA5, A5F362, A5FZ18, A5UF67, A5WBF8, A6LRN5, A7GT07, A7I2G3, A7MWW1, A9IGC5, B0B7R0, B0BBX5, B0BTI6, B0UWR3, B2TLZ8, B2V2I6, B6IVA5, B7HCT9, B7IYG6, B8D757, B8D8V3, B8F7S3, B8I304, B9KH92, C3LTA6, C4L424, C5B7L8, O32465, O34136, O34242, O52065, O66921, O84345, P0CW06, P0CW07, P25303, P28616
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
36 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 3 |
| Likely pathogenic | 2 |
| Uncertain significance | 19 |
| Likely benign | 0 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (5)
| Variant ID | HGVS | Classification |
|---|---|---|
| 1072681 | NC_000011.9:g.(?31284590)(31824402_?)del | Pathogenic |
| 647471 | NC_000011.9:g.(?31284590)(31832374_?)del | Pathogenic |
| 686012 | GRCh37/hg19 11p13(chr11:31416012-31822354)x1 | Pathogenic |
| 1340711 | GRCh37/hg19 11p13(chr11:31415634-31790329)x1 | Likely pathogenic |
| 545141 | NC_000011.10:g.(?31405793)(31548667_?)del | Likely pathogenic |
SpliceAI
1853 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 11:31369908:GTTAG:G | donor_gain | 1.0000 |
| 11:31369909:T:G | donor_gain | 1.0000 |
| 11:31370715:GCTA:G | acceptor_gain | 1.0000 |
| 11:31370859:GGTA:G | donor_loss | 1.0000 |
| 11:31370861:T:G | donor_loss | 1.0000 |
| 11:31426285:A:AG | acceptor_gain | 1.0000 |
| 11:31426286:G:GG | acceptor_gain | 1.0000 |
| 11:31426286:GAA:G | acceptor_gain | 1.0000 |
| 11:31429568:A:T | donor_gain | 1.0000 |
| 11:31429599:GAGCC:G | donor_gain | 1.0000 |
| 11:31429601:GCC:G | donor_gain | 1.0000 |
| 11:31429603:C:CG | donor_gain | 1.0000 |
| 11:31429603:C:G | donor_gain | 1.0000 |
| 11:31369912:GGTA:G | donor_loss | 0.9900 |
| 11:31369913:G:GG | donor_gain | 0.9900 |
| 11:31369913:GTA:G | donor_loss | 0.9900 |
| 11:31369914:T:G | donor_loss | 0.9900 |
| 11:31370714:A:AG | acceptor_gain | 0.9900 |
| 11:31370715:G:GA | acceptor_gain | 0.9900 |
| 11:31370715:GCT:G | acceptor_gain | 0.9900 |
| 11:31370860:G:GG | donor_gain | 0.9900 |
| 11:31370862:AA:A | donor_loss | 0.9900 |
| 11:31414809:A:AG | acceptor_gain | 0.9900 |
| 11:31414810:G:GG | acceptor_gain | 0.9900 |
| 11:31414927:A:T | donor_gain | 0.9900 |
| 11:31426279:TTTTA:T | acceptor_loss | 0.9900 |
| 11:31426280:TTTAC:T | acceptor_loss | 0.9900 |
| 11:31426281:TTACA:T | acceptor_loss | 0.9900 |
| 11:31426282:TACA:T | acceptor_loss | 0.9900 |
| 11:31426283:ACAG:A | acceptor_loss | 0.9900 |
AlphaMissense
989 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 11:31414814:C:G | H39D | 0.992 |
| 11:31414892:G:C | A65P | 0.984 |
| 11:31414816:T:A | H39Q | 0.982 |
| 11:31414816:T:G | H39Q | 0.982 |
| 11:31414874:T:C | F59L | 0.980 |
| 11:31414876:C:A | F59L | 0.980 |
| 11:31414876:C:G | F59L | 0.980 |
| 11:31414825:A:C | K42N | 0.979 |
| 11:31414825:A:T | K42N | 0.979 |
| 11:31414893:C:A | A65E | 0.976 |
| 11:31370832:A:C | K28N | 0.972 |
| 11:31370832:A:T | K28N | 0.972 |
| 11:31370839:T:G | Y31D | 0.972 |
| 11:31430300:T:A | C117S | 0.970 |
| 11:31430301:G:C | C117S | 0.970 |
| 11:31414814:C:A | H39N | 0.968 |
| 11:31414905:T:A | L69Q | 0.965 |
| 11:31414895:T:A | W66R | 0.963 |
| 11:31414895:T:C | W66R | 0.963 |
| 11:31430312:T:G | Y121D | 0.963 |
| 11:31430357:T:A | C136S | 0.957 |
| 11:31430358:G:A | C136Y | 0.957 |
| 11:31430358:G:C | C136S | 0.957 |
| 11:31430300:T:C | C117R | 0.956 |
| 11:31430294:T:A | C115S | 0.955 |
| 11:31430295:G:C | C115S | 0.955 |
| 11:31430294:T:C | C115R | 0.954 |
| 11:31430313:A:C | Y121S | 0.954 |
| 11:31414924:A:C | K75N | 0.952 |
| 11:31414924:A:T | K75N | 0.952 |
dbSNP variants (sampled 300 via entrez): RS1000028266 (11:31410022 T>A,C), RS1000072464 (11:31429302 T>A,C), RS1000099716 (11:31390478 G>A), RS1000101524 (11:31410368 T>C), RS1000142609 (11:31385525 C>G), RS1000152429 (11:31385802 G>A), RS1000154681 (11:31383959 A>G), RS1000167669 (11:31431668 A>G), RS1000177592 (11:31396914 A>C), RS1000202503 (11:31399347 G>A), RS1000265286 (11:31389734 A>G), RS1000294106 (11:31421534 A>G,T), RS1000344172 (11:31424042 G>A), RS1000348748 (11:31402625 C>T), RS1000401802 (11:31379477 C>T)
Disease associations
OMIM: gene MIM:611072 | disease phenotypes: MIM:604229, MIM:106210, MIM:181500
GenCC curated gene-disease
Mondo (3): Peters anomaly (MONDO:0011414), aniridia 1 (MONDO:0024507), schizophrenia (MONDO:0005090)
Orphanet (3): Isolated aniridia (Orphanet:250923), Peters anomaly (Orphanet:708), NON RARE IN EUROPE: Schizophrenia (Orphanet:3140)
HPO phenotypes
2 total (2 of 2 shown, HPO-id order):
| HPO | Term |
|---|---|
| HP:0000659 | Peters anomaly |
| HP:0100753 | Schizophrenia |
GWAS associations
5 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST002529_6 | Glaucoma | 8.000000e-09 |
| GCST004601_155 | Red blood cell count | 9.000000e-13 |
| GCST008058_101 | Estimated glomerular filtration rate | 9.000000e-19 |
| GCST008059_79 | Estimated glomerular filtration rate | 8.000000e-21 |
| GCST010703_25 | Brain morphology (MOSTest) | 2.000000e-09 |
EFO canonical traits (2, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0004305 | erythrocyte count |
| EFO:0004346 | neuroimaging measurement |
MeSH disease descriptors (1)
| Descriptor | Name | Tree numbers |
|---|---|---|
| C537884 | Peters anomaly (supp.) |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
27 total (human), top 27 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| trichostatin A | affects cotreatment, decreases expression | 3 |
| Phenylmercuric Acetate | affects cotreatment, decreases expression | 2 |
| dicrotophos | decreases expression | 1 |
| methylmercuric chloride | decreases expression | 1 |
| triphenyl phosphate | affects expression | 1 |
| sodium arsenite | affects cotreatment, increases abundance, increases expression | 1 |
| perfluorooctanoic acid | decreases expression | 1 |
| manganese chloride | increases expression, affects cotreatment, increases abundance | 1 |
| di-n-butylphosphoric acid | affects expression | 1 |
| perfluorooctane sulfonic acid | decreases expression | 1 |
| perfluoro-n-nonanoic acid | decreases expression | 1 |
| 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide | affects cotreatment, decreases expression | 1 |
| perfluorohexanesulfonic acid | decreases expression | 1 |
| dorsomorphin | affects cotreatment, decreases expression | 1 |
| Air Pollutants | decreases expression, increases abundance | 1 |
| Arsenic | increases expression, affects cotreatment, increases abundance | 1 |
| Atrazine | increases expression | 1 |
| Dimethyl Sulfoxide | increases expression | 1 |
| Manganese | increases abundance, increases expression, affects cotreatment | 1 |
| Tobacco Smoke Pollution | increases expression | 1 |
| Tretinoin | decreases expression | 1 |
| Urethane | increases expression | 1 |
| Valproic Acid | decreases methylation | 1 |
| Aflatoxin B1 | decreases methylation | 1 |
| Cadmium Chloride | increases expression | 1 |
| Copper Sulfate | increases expression | 1 |
| Particulate Matter | decreases expression, increases abundance | 1 |
Clinical trials (associated diseases)
300 trials via MONDO — disease-level, not drug-specific.
| Trial | Phase | Status | Title |
|---|---|---|---|
| NCT00000374 | PHASE4 | COMPLETED | Treatment for First-Episode Schizophrenia |
| NCT00001656 | PHASE4 | COMPLETED | Comparison of Clozapine vs Olanzapine in Childhood-Onset Psychotic Disorders |
| NCT00007774 | PHASE4 | COMPLETED | To Determine if Olanzapine is More Cost Effective Than Haloperidol for the Treatment of Schizophrenia |
| NCT00014001 | PHASE4 | COMPLETED | CATIE- Schizophrenia Trial |
| NCT00018668 | PHASE4 | COMPLETED | Antipsychotic Response in Schizophrenia |
| NCT00034801 | PHASE4 | COMPLETED | Olanzapine Versus Active Comparator in the Treatment of Depression in Patients With Schizophrenia |
| NCT00034905 | PHASE4 | COMPLETED | A Comparison of Seroquel vs. Risperidone in Schizophrenia |
| NCT00036088 | PHASE4 | COMPLETED | Olanzapine Versus An Active Comparator in the Treatment of Schizophrenia |
| NCT00044187 | PHASE4 | COMPLETED | The Assessment of a Weight-Gain Agent for the Treatment of Olanzapine-Associated Anti-Obesity Agent in Patients With Schizophrenia, Schizophreniform Disorder, Schizoaffective Disorder, and Bipolar I Disorder |
| NCT00044655 | PHASE4 | COMPLETED | Switching Medication to Treat Schizophrenia |
| NCT00048828 | PHASE4 | COMPLETED | Treating Drug-Resistant Childhood Schizophrenia |
| NCT00053703 | PHASE4 | COMPLETED | Treatment of Early Onset Schizophrenia Spectrum Disorders (TEOSS) |
| NCT00056498 | PHASE4 | COMPLETED | Risperidone Treatment in Schizophrenia Patients Who Are Currently Taking Clozapine |
| NCT00061802 | PHASE4 | COMPLETED | Efficacy and Safety of Two Atypical Antipsychotics vs. Placebo in Patients With an Acute Exacerbation of Either Schizophrenia or Schizoaffective Disorder |
| NCT00080327 | PHASE4 | COMPLETED | Study of Three Doses of Aripiprazole in Patients With Acute Schizophrenia |
| NCT00088049 | PHASE4 | COMPLETED | Study of Olanzapine vs. Aripiprazole in the Treatment of Schizophrenia |
| NCT00090012 | PHASE4 | COMPLETED | Comparison of Continuing Olanzapine to Switching to Quetiapine in Overweight or Obese Patients With Schizophrenia and Schizoaffective Disorder |
| NCT00100776 | PHASE4 | COMPLETED | Efficacy of High Dose Olanzapine for the Treatment of Schizophrenia and Schizoaffective Disorder |
| NCT00103571 | PHASE4 | COMPLETED | Olanzapine Versus Aripiprazole in the Treatment of Acutely Ill Patients With Schizophrenia |
| NCT00108368 | PHASE4 | COMPLETED | The Effects of Risperidone and Olanzapine on Thinking |
| NCT00114595 | PHASE4 | COMPLETED | Ethyl-Eicosapentaenoic Acid and Tardive Dyskinesia |
| NCT00130923 | PHASE4 | COMPLETED | Risperidone Long-acting Versus Oral Risperidone in Patients With Schizophrenia and Alcohol Use Disorder |
| NCT00137020 | PHASE4 | COMPLETED | Clinical Effect Of Cross Titration Of Antipsychotics With Ziprasidone In Schizophrenia Or Schizoaffective Disorder |
| NCT00140166 | PHASE4 | COMPLETED | Treatment of Acute Schizophrenia With Vitamin Therapy |
| NCT00145847 | PHASE4 | COMPLETED | Naltrexone Treatment of Alcohol Abuse in Schizophrenia |
| NCT00148564 | PHASE4 | COMPLETED | Energy Homeostasis Under Treatment With Atypical Antipsychotics |
| NCT00156715 | PHASE4 | COMPLETED | Efficacy of Quetiapine in the Treatment of Patients With Schizophrenia and a Comorbid Substance Use Disorder |
| NCT00158223 | PHASE4 | COMPLETED | Effectiveness of Pimozide in Augmenting the Effects of Clozapine in the Treatment of Schizophrenia |
| NCT00159081 | PHASE4 | COMPLETED | One Year Drug Treatment in First-Episode Schizophrenia |
| NCT00159120 | PHASE4 | COMPLETED | Maintenance Treatment vs. Stepwise Drug Discontinuation in First-Episode Schizophrenia |
| NCT00159133 | PHASE4 | COMPLETED | Prodrome-Based Early Intervention With Antipsychotics vs. Benzodiazepines in First-Episode Schizophrenia |
| NCT00159757 | PHASE4 | TERMINATED | 12 Week Open, Non-Comparative Switch Study Of Oral Ziprazidone In Previously Treated Schizophrenic Patients |
| NCT00167817 | PHASE4 | COMPLETED | Effect of Switch to Aripiprazole on Health and Smoking Parameters in Patients With Schizophrenia: A Pilot Study |
| NCT00169026 | PHASE4 | TERMINATED | Alcoholism and Schizophrenia: Effects of Clozapine |
| NCT00169039 | PHASE4 | TERMINATED | Clozapine Versus Chlorpromazine for Treatment-Unresponsive Schizophrenia |
| NCT00169065 | PHASE4 | COMPLETED | Effectiveness of Clozapine Versus Olanzapine for Treatment-resistant Schizophrenia |
| NCT00169091 | PHASE4 | TERMINATED | Clozapine Versus Haloperidol for Treating the First Episode of Schizophrenia |
| NCT00176423 | PHASE4 | COMPLETED | Efficacy Study of Galantamine for Cognitive Impairments in Schizophrenia |
| NCT00176436 | PHASE4 | COMPLETED | Atomoxetine for Treatment of Weight Gain in Olanzapine or Clozapine Patients |
| NCT00177008 | PHASE4 | COMPLETED | Aripiprazole for the Treatment of Schizophrenia With Co-Morbid Social Anxiety |
Related Atlas pages
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): aniridia 1, glaucoma, Peters anomaly