DENND2D
gene geneOn this page
Also known as FLJ22457RP5-1180E21.2
Summary
DENND2D (DENN domain containing 2D, HGNC:26192) is a protein-coding gene on chromosome 1p13.3-p13.2, encoding DENN domain-containing protein 2D (Q9H6A0). Guanine nucleotide exchange factor (GEF) which may activate RAB9A and RAB9B.
Enables guanyl-nucleotide exchange factor activity. Located in cytosol and nucleoplasm.
Source: NCBI Gene 79961 — RefSeq curated summary.
At a glance
- GWAS associations: 17
- Clinical variants (ClinVar): 82 total — 1 likely-pathogenic
- Phenotypes (HPO): 1
- MANE Select transcript:
NM_024901
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:26192 |
| Approved symbol | DENND2D |
| Name | DENN domain containing 2D |
| Location | 1p13.3-p13.2 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | FLJ22457, RP5-1180E21.2 |
| Ensembl gene | ENSG00000162777 |
| Ensembl biotype | protein_coding |
| OMIM | 615111 |
| Entrez | 79961 |
Gene structure
Transcript identifiers
Ensembl transcripts: 10 — 6 protein_coding_CDS_not_defined, 4 protein_coding
ENST00000357640, ENST00000369752, ENST00000463713, ENST00000468692, ENST00000473682, ENST00000473822, ENST00000477586, ENST00000488786, ENST00000900292, ENST00000900293
RefSeq mRNA: 2 — MANE Select: NM_024901
NM_001271833, NM_024901
CCDS: CCDS60219, CCDS831
Canonical transcript exons
ENST00000357640 — 12 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001068504 | 111192140 | 111192317 |
| ENSE00001068505 | 111194578 | 111194726 |
| ENSE00001068510 | 111195916 | 111196056 |
| ENSE00001068513 | 111189212 | 111189253 |
| ENSE00001433184 | 111200393 | 111200646 |
| ENSE00003494377 | 111197176 | 111197253 |
| ENSE00003501702 | 111199623 | 111199798 |
| ENSE00003502040 | 111197920 | 111197989 |
| ENSE00003550095 | 111188131 | 111188370 |
| ENSE00003561912 | 111198630 | 111198742 |
| ENSE00003684384 | 111188702 | 111188786 |
| ENSE00003848799 | 111185969 | 111187681 |
Expression profiles
Bgee: expression breadth ubiquitous, 232 present calls, max score 98.59.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 15.4649 / max 499.4433, expressed in 1037 samples.
FANTOM5 promoters (12 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 13806 | 4.8088 | 332 |
| 13801 | 2.5043 | 307 |
| 13810 | 2.3742 | 827 |
| 13808 | 2.2617 | 181 |
| 13804 | 1.2257 | 238 |
| 13802 | 0.8377 | 219 |
| 13809 | 0.6589 | 293 |
| 201614 | 0.4042 | 214 |
| 13805 | 0.1439 | 60 |
| 13803 | 0.1139 | 72 |
Top tissues by expression
285 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| granulocyte | CL:0000094 | 98.59 | gold quality |
| spleen | UBERON:0002106 | 96.62 | gold quality |
| vermiform appendix | UBERON:0001154 | 96.29 | gold quality |
| lymph node | UBERON:0000029 | 96.25 | gold quality |
| blood | UBERON:0000178 | 96.25 | gold quality |
| tonsil | UBERON:0002372 | 95.47 | gold quality |
| lower esophagus mucosa | UBERON:0035834 | 95.31 | gold quality |
| mucosa of transverse colon | UBERON:0004991 | 95.01 | gold quality |
| rectum | UBERON:0001052 | 94.21 | gold quality |
| esophagus mucosa | UBERON:0002469 | 94.08 | gold quality |
| esophagus squamous epithelium | UBERON:0006920 | 93.34 | gold quality |
| epithelium of nasopharynx | UBERON:0001951 | 93.25 | gold quality |
| squamous epithelium | UBERON:0006914 | 92.58 | gold quality |
| right uterine tube | UBERON:0001302 | 92.56 | gold quality |
| tongue squamous epithelium | UBERON:0006919 | 92.40 | gold quality |
| cervix squamous epithelium | UBERON:0006922 | 92.38 | gold quality |
| epithelium of esophagus | UBERON:0001976 | 92.19 | gold quality |
| minor salivary gland | UBERON:0001830 | 91.57 | gold quality |
| caecum | UBERON:0001153 | 91.41 | gold quality |
| small intestine Peyer’s patch | UBERON:0003454 | 91.15 | gold quality |
| mouth mucosa | UBERON:0003729 | 90.89 | gold quality |
| amniotic fluid | UBERON:0000173 | 90.86 | gold quality |
| right adrenal gland | UBERON:0001233 | 90.82 | gold quality |
| right adrenal gland cortex | UBERON:0035827 | 90.80 | gold quality |
| bone marrow cell | CL:0002092 | 90.66 | gold quality |
| leukocyte | CL:0000738 | 90.60 | gold quality |
| saliva-secreting gland | UBERON:0001044 | 90.18 | gold quality |
| gingival epithelium | UBERON:0001949 | 90.16 | gold quality |
| upper lobe of left lung | UBERON:0008952 | 90.15 | gold quality |
| palpebral conjunctiva | UBERON:0001812 | 90.06 | gold quality |
Single-cell (SCXA)
Detected in 4 experiment(s), a significant marker in 4.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-CURD-122 | yes | 40.02 |
| E-ANND-3 | yes | 13.20 |
| E-CURD-112 | yes | 5.42 |
| E-MTAB-9067 | yes | 4.57 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
72 targeting DENND2D, 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-8485 | 100.00 | 77.57 | 4731 |
| HSA-MIR-3185 | 99.99 | 68.12 | 1959 |
| HSA-MIR-513B-5P | 99.99 | 69.96 | 2150 |
| HSA-MIR-4725-3P | 99.96 | 69.53 | 2520 |
| HSA-MIR-3658 | 99.96 | 73.87 | 4379 |
| HSA-MIR-6780B-5P | 99.96 | 69.60 | 2562 |
| HSA-MIR-219A-5P | 99.91 | 73.36 | 735 |
| HSA-MIR-454-3P | 99.91 | 74.01 | 1925 |
| HSA-MIR-130B-3P | 99.90 | 73.27 | 1850 |
| HSA-MIR-627-3P | 99.90 | 71.42 | 3316 |
| HSA-MIR-130A-3P | 99.90 | 73.31 | 1861 |
| HSA-MIR-301A-3P | 99.90 | 73.15 | 1839 |
| HSA-MIR-301B-3P | 99.90 | 73.19 | 1836 |
| HSA-MIR-3666 | 99.90 | 73.24 | 1833 |
| HSA-MIR-4295 | 99.90 | 73.11 | 1838 |
| HSA-MIR-9902 | 99.89 | 69.15 | 2250 |
| HSA-MIR-548E-5P | 99.89 | 72.73 | 4486 |
| HSA-MIR-4782-3P | 99.88 | 73.31 | 735 |
| HSA-MIR-6766-3P | 99.88 | 73.38 | 732 |
| HSA-MIR-4271 | 99.88 | 68.32 | 2244 |
| HSA-MIR-30D-3P | 99.87 | 69.92 | 2917 |
| HSA-MIR-30A-3P | 99.87 | 69.74 | 2928 |
| HSA-MIR-30E-3P | 99.87 | 69.68 | 2942 |
| HSA-MIR-3941 | 99.86 | 70.54 | 2735 |
| HSA-MIR-5010-3P | 99.83 | 70.60 | 2357 |
| HSA-MIR-6844 | 99.82 | 70.69 | 2423 |
| HSA-MIR-4659A-3P | 99.80 | 72.62 | 4248 |
| HSA-MIR-4659B-3P | 99.80 | 72.62 | 4248 |
| HSA-MIR-4766-5P | 99.75 | 69.23 | 2662 |
| HSA-MIR-4255 | 99.72 | 67.70 | 1541 |
Literature-anchored findings (GeneRIF, showing 6)
- Mutations in DENND2D in melanoma by inhibition of nonsense-mediated mRNA decay. (PMID:18677770)
- Our data show that DENND2D might function as a tumor suppressor-like gene, preventing survival and expansion of cells with genetic damage through apoptosis mechanism. Absence of DENND2D might play a permissive role, as an early event, in tumorigenesis. (PMID:23182661)
- DENND2D is a candidate tumor suppressor gene that is inactivated by promoter hypermethylation in patients with Hepatocellular carcinoma and may serve as a novel biomarker of early recurrence of Hepatocellular carcinoma . (PMID:24189587)
- DENND2D is a candidate tumor suppressor gene that was inactivated by promoter hypermethylation in patients with esophageal squamous cell carcinoma and may serve as a novel biomarker of esophageal squamous cell carcinoma. (PMID:24317529)
- Higher frequency of promoter hypermethylation of DENND2D is associated with gastric cancer. (PMID:24695972)
- resulted in increased cell motility and invasive ability. Moreover, miR-1246 increased cell motility by directly targeting DENN/MADD Domain Containing 2D (DENND2D) (PMID:27929118)
Cross-species orthologs
4 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | dennd2db | ENSDARG00000030250 |
| danio_rerio | dennd2da | ENSDARG00000058666 |
| mus_musculus | Dennd2d | ENSMUSG00000027901 |
| rattus_norvegicus | Dennd2d | ENSRNOG00000017680 |
Paralogs (3): DENND2A (ENSG00000146966), DENND2B (ENSG00000166444), DENND2C (ENSG00000175984)
Protein
Protein identifiers
DENN domain-containing protein 2D — Q9H6A0 (reviewed: Q9H6A0)
All UniProt accessions (1): Q9H6A0
UniProt curated annotations — full annotation on UniProt →
Function. Guanine nucleotide exchange factor (GEF) which may activate RAB9A and RAB9B. Promotes the exchange of GDP to GTP, converting inactive GDP-bound Rab proteins into their active GTP-bound form.
Subcellular location. Cytoplasm.
Tissue specificity. In bronchial mucosa, mainly expressed in ciliated and basal epithelial cells and weakly in alveolar cells (at protein level). Tends to be down-regulated in lung cancers, immortalized bronchial epithelial cell lines and precancerous lesions.
Isoforms (2)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q9H6A0-1 | 1 | yes |
| Q9H6A0-2 | 2 |
RefSeq proteins (2): NP_001258762, NP_079177* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR001194 | cDENN_dom | Domain |
| IPR005112 | dDENN_dom | Domain |
| IPR005113 | uDENN_dom | Domain |
| IPR037516 | Tripartite_DENN | Domain |
| IPR043153 | DENN_C | Homologous_superfamily |
| IPR051942 | DENN_domain_containing_2 | Family |
Pfam: PF02141, PF03455, PF03456
UniProt features (7 total): domain 3, chain 1, splice variant 1, sequence variant 1, sequence conflict 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q9H6A0-F1 | 84.80 | 0.64 |
Function
Pathways and Gene Ontology
Reactome pathways
1 pathways
| ID | Pathway |
|---|---|
| R-HSA-8876198 | RAB GEFs exchange GTP for GDP on RABs |
MSigDB gene sets: 206 (showing top):
BHATI_G2M_ARREST_BY_2METHOXYESTRADIOL_DN, TGACCTY_ERR1_Q2, REACTOME_MEMBRANE_TRAFFICKING, WIELAND_UP_BY_HBV_INFECTION, TTGCWCAAY_CEBPB_02, MODULE_206, SCHAEFFER_PROSTATE_DEVELOPMENT_48HR_UP, LEE_EARLY_T_LYMPHOCYTE_DN, GAZDA_DIAMOND_BLACKFAN_ANEMIA_ERYTHROID_UP, MAF_Q6, AML1_01, DBP_Q6, MODULE_491, AP2GAMMA_01, CHARAFE_BREAST_CANCER_LUMINAL_VS_MESENCHYMAL_UP
GO Biological Process (0):
GO Molecular Function (2): guanyl-nucleotide exchange factor activity (GO:0005085), protein binding (GO:0005515)
GO Cellular Component (3): nucleoplasm (GO:0005654), cytosol (GO:0005829), cytoplasm (GO:0005737)
Reactome top-level categories
Rollup of top-1 pathways:
| Category | Pathways |
|---|---|
| Rab regulation of trafficking | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cellular anatomical structure | 3 |
| GTP binding | 1 |
| GDP binding | 1 |
| GTPase regulator activity | 1 |
| binding | 1 |
| nuclear lumen | 1 |
| cytoplasm | 1 |
| intracellular anatomical structure | 1 |
Protein interactions and networks
STRING
608 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| DENND2D | CHI3L2 | Q15782 | 604 |
| DENND2D | CIMAP3 | Q8TCI5 | 517 |
| DENND2D | CHIA | Q9BZP6 | 450 |
| DENND2D | RAB9A | P51151 | 424 |
| DENND2D | RHOBTB3 | O94955 | 416 |
| DENND2D | RAB9B | Q9NP90 | 397 |
| DENND2D | NSUN2 | Q08J23 | 384 |
| DENND2D | ARHGAP18 | Q8N392 | 375 |
| DENND2D | TPP2 | P29144 | 366 |
| DENND2D | DOK3 | Q7L591 | 326 |
| DENND2D | HSF5 | Q4G112 | 322 |
| DENND2D | CEPT1 | Q9Y6K0 | 322 |
| DENND2D | BTG1 | P31607 | 314 |
| DENND2D | MPZL3 | Q6UWV2 | 311 |
| DENND2D | GPR155 | Q7Z3F1 | 310 |
IntAct
10 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| DENND2D | HSPA9 | psi-mi:“MI:0915”(physical association) | 0.620 |
| FAM9B | DENND2D | psi-mi:“MI:0915”(physical association) | 0.560 |
| DENND2D | FAM9B | psi-mi:“MI:0915”(physical association) | 0.560 |
| DENND2D | HSPA8 | psi-mi:“MI:0914”(association) | 0.530 |
| DENND2D | UBA52 | psi-mi:“MI:0915”(physical association) | 0.400 |
| ESR1 | ESYT2 | psi-mi:“MI:0914”(association) | 0.350 |
| DENND2D | BAG3 | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (70): FAM9B (Two-hybrid), HSPA1B (Affinity Capture-MS), HSPA8 (Affinity Capture-MS), HSPA1L (Affinity Capture-MS), HSPA9 (Affinity Capture-MS), NOLC1 (Affinity Capture-MS), TCOF1 (Affinity Capture-MS), HSPA4 (Affinity Capture-MS), BRD2 (Affinity Capture-MS), TPP2 (Affinity Capture-MS), PNN (Affinity Capture-MS), ELL (Affinity Capture-MS), RNPS1 (Affinity Capture-MS), GRPEL1 (Affinity Capture-MS), COIL (Affinity Capture-MS)
ESM2 similar proteins: A2RT67, A2RUS2, A4D1U4, A7UA95, D4ACE5, F1ND48, O77682, O95870, P47823, Q059U7, Q08DJ7, Q09M05, Q0PGW2, Q13144, Q1JPD2, Q1LX49, Q3UHG7, Q3UMR0, Q4FZX0, Q4KLI9, Q4R4D7, Q4R8P0, Q4V7A9, Q5CZL1, Q5M7Q1, Q5R5N9, Q5R5S1, Q5R6S0, Q5REW9, Q5RL51, Q5XGM5, Q64350, Q6DDX8, Q6MG55, Q6NXD8, Q86V87, Q8CHW4, Q8JHZ8, Q8VDH1, Q91VV4
Diamond homologs: E9PXF8, G2WWH6, I1RQE2, O02626, O75064, O95248, P78524, Q3U1T9, Q3U1Y4, Q5VZ89, Q68D51, Q68F67, Q6NTN5, Q6P3S1, Q6ZPE2, Q7Z401, Q86WG5, Q8C4S8, Q8CFK6, Q8IV53, Q8K382, Q8TEH3, Q91VV4, Q924W7, Q9H6A0, Q9TXP3, Q9ULE3, Q9Y7Q7, X0JZ91, A6H8H2, O08873, Q6NXD8, Q6P9P8, Q6ZUT9, Q80U28, Q8WXG6, A2RSQ0
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
82 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 1 |
| Uncertain significance | 61 |
| Likely benign | 3 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (1)
| Variant ID | HGVS | Classification |
|---|---|---|
| 545138 | NC_000001.11:g.(?103175204)(111410059_?)del | Likely pathogenic |
SpliceAI
2014 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 1:111188126:TGTA:T | donor_loss | 1.0000 |
| 1:111188128:TAC:T | donor_loss | 1.0000 |
| 1:111188129:AC:A | donor_loss | 1.0000 |
| 1:111188130:C:CT | donor_loss | 1.0000 |
| 1:111188160:T:TA | donor_gain | 1.0000 |
| 1:111188695:GACTT:G | donor_loss | 1.0000 |
| 1:111188696:ACTT:A | donor_loss | 1.0000 |
| 1:111188697:CTTAC:C | donor_loss | 1.0000 |
| 1:111188698:TTAC:T | donor_loss | 1.0000 |
| 1:111188699:TAC:T | donor_loss | 1.0000 |
| 1:111188700:A:AC | donor_gain | 1.0000 |
| 1:111188700:AC:A | donor_loss | 1.0000 |
| 1:111188700:ACT:A | donor_gain | 1.0000 |
| 1:111188701:C:CA | donor_gain | 1.0000 |
| 1:111188701:C:G | donor_loss | 1.0000 |
| 1:111188701:CT:C | donor_gain | 1.0000 |
| 1:111188701:CTC:C | donor_gain | 1.0000 |
| 1:111195914:A:C | donor_loss | 1.0000 |
| 1:111195915:C:CT | donor_loss | 1.0000 |
| 1:111195919:AGTG:A | donor_gain | 1.0000 |
| 1:111196052:AGGAT:A | acceptor_gain | 1.0000 |
| 1:111196053:GGAT:G | acceptor_gain | 1.0000 |
| 1:111196057:C:CC | acceptor_gain | 1.0000 |
| 1:111198627:TA:T | donor_loss | 1.0000 |
| 1:111198738:TCCCG:T | acceptor_gain | 1.0000 |
| 1:111198739:CCCG:C | acceptor_gain | 1.0000 |
| 1:111198739:CCCGC:C | acceptor_gain | 1.0000 |
| 1:111198740:CCG:C | acceptor_gain | 1.0000 |
| 1:111198740:CCGC:C | acceptor_gain | 1.0000 |
| 1:111198741:CG:C | acceptor_gain | 1.0000 |
AlphaMissense
3094 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 1:111192189:C:T | G308E | 0.999 |
| 1:111195937:G:C | F208L | 0.999 |
| 1:111195937:G:T | F208L | 0.999 |
| 1:111195939:A:G | F208L | 0.999 |
| 1:111195971:G:T | P197H | 0.999 |
| 1:111197206:G:C | S158R | 0.999 |
| 1:111197206:G:T | S158R | 0.999 |
| 1:111197208:T:G | S158R | 0.999 |
| 1:111197215:G:C | C155W | 0.999 |
| 1:111197216:C:T | C155Y | 0.999 |
| 1:111197217:A:G | C155R | 0.999 |
| 1:111197932:G:C | C138W | 0.999 |
| 1:111197939:C:T | G136E | 0.999 |
| 1:111197969:A:G | L126P | 0.999 |
| 1:111197980:G:C | F122L | 0.999 |
| 1:111197980:G:T | F122L | 0.999 |
| 1:111197982:A:G | F122L | 0.999 |
| 1:111199629:A:C | F79L | 0.999 |
| 1:111199629:A:T | F79L | 0.999 |
| 1:111199631:A:G | F79L | 0.999 |
| 1:111192190:C:G | G308R | 0.998 |
| 1:111192190:C:T | G308R | 0.998 |
| 1:111192265:A:G | W283R | 0.998 |
| 1:111192265:A:T | W283R | 0.998 |
| 1:111195940:G:C | S207R | 0.998 |
| 1:111195940:G:T | S207R | 0.998 |
| 1:111195942:T:G | S207R | 0.998 |
| 1:111195971:G:C | P197R | 0.998 |
| 1:111196033:T:A | R176S | 0.998 |
| 1:111196033:T:G | R176S | 0.998 |
dbSNP variants (sampled 300 via entrez): RS1000014248 (1:111201067 A>T), RS1000052281 (1:111205291 T>C), RS1000107183 (1:111192518 T>C), RS1000172709 (1:111205065 T>C), RS1000310503 (1:111192859 A>G), RS1000404108 (1:111200759 C>A,G), RS1000435119 (1:111200551 C>T), RS1000636596 (1:111196581 G>A), RS1000706402 (1:111195143 G>T), RS1000716073 (1:111205325 G>A), RS1000724987 (1:111188694 G>A), RS1000733615 (1:111202445 C>T), RS1001008594 (1:111196856 G>T), RS1001069495 (1:111189981 G>A,T), RS1001122123 (1:111190088 C>A,T)
Disease associations
OMIM: gene MIM:615111 | disease phenotypes: MIM:209850
GenCC curated gene-disease
Mondo (1): autism (MONDO:0005260)
Orphanet (0):
HPO phenotypes
1 total (1 of 1 shown, HPO-id order):
| HPO | Term |
|---|---|
| HP:0000717 | Autism |
GWAS associations
17 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST001277_9 | Liver enzyme levels (gamma-glutamyl transferase) | 7.000000e-09 |
| GCST004599_246 | Mean platelet volume | 5.000000e-17 |
| GCST007430_17 | Peak expiratory flow | 3.000000e-07 |
| GCST007431_110 | Lung function (FEV1/FVC) | 2.000000e-20 |
| GCST007432_33 | FEV1 | 6.000000e-12 |
| GCST007692_75 | Chronic obstructive pulmonary disease | 3.000000e-10 |
| GCST008481_1 | Lung function (FEV1/FVC) | 6.000000e-07 |
| GCST90002385_617 | High light scatter reticulocyte count | 1.000000e-10 |
| GCST90002386_370 | High light scatter reticulocyte percentage of red cells | 3.000000e-10 |
| GCST90002389_67 | Lymphocyte percentage of white cells | 1.000000e-16 |
| GCST90002395_315 | Mean platelet volume | 2.000000e-21 |
| GCST90002395_316 | Mean platelet volume | 2.000000e-13 |
| GCST90002399_3 | Neutrophil percentage of white cells | 2.000000e-18 |
| GCST90002402_487 | Platelet count | 7.000000e-12 |
| GCST90002405_77 | Reticulocyte count | 2.000000e-12 |
| GCST90002406_148 | Reticulocyte fraction of red cells | 1.000000e-11 |
| GCST90011899_159 | Aspartate aminotransferase levels | 2.000000e-08 |
EFO canonical traits (9, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0004532 | serum gamma-glutamyl transferase measurement |
| EFO:0009718 | peak expiratory flow |
| EFO:0004713 | FEV/FVC ratio |
| EFO:0004314 | forced expiratory volume |
| EFO:0007986 | reticulocyte count |
| EFO:0007993 | lymphocyte percentage of leukocytes |
| EFO:0007990 | neutrophil percentage of leukocytes |
| EFO:0004309 | platelet count |
| EFO:0004736 | aspartate aminotransferase measurement |
MeSH disease descriptors (1)
| Descriptor | Name | Tree numbers |
|---|---|---|
| D001321 | Autistic Disorder | F03.625.164.113.500 |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
43 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| potassium chromate(VI) | affects cotreatment, decreases expression, increases expression | 2 |
| Air Pollutants | affects expression, increases abundance, increases expression | 2 |
| Air Pollutants, Occupational | affects expression, decreases expression | 2 |
| Benzo(a)pyrene | decreases methylation, increases expression | 2 |
| Nickel | decreases expression, increases expression | 2 |
| Tobacco Smoke Pollution | decreases expression | 2 |
| Aflatoxin B1 | affects expression, increases methylation | 2 |
| aristolochic acid I | decreases expression | 1 |
| daidzein | affects cotreatment, increases expression | 1 |
| triphenyl phosphate | affects expression | 1 |
| propionaldehyde | increases expression | 1 |
| daidzin | affects cotreatment, increases expression | 1 |
| sodium arsenite | decreases expression | 1 |
| nickel sulfate | decreases expression | 1 |
| genistin | affects cotreatment, increases expression | 1 |
| epigallocatechin gallate | affects cotreatment, decreases expression | 1 |
| di-n-butylphosphoric acid | affects expression | 1 |
| chromium hexavalent ion | affects expression | 1 |
| glycitein | affects cotreatment, increases expression | 1 |
| CGP 52608 | affects binding, increases reaction | 1 |
| 2-palmitoylglycerol | increases expression | 1 |
| glycitin | increases expression, affects cotreatment | 1 |
| nutlin 3 | affects cotreatment, increases expression | 1 |
| (+)-JQ1 compound | decreases expression | 1 |
| Zoledronic Acid | increases expression | 1 |
| Acetaminophen | decreases expression | 1 |
| Dactinomycin | increases expression, affects cotreatment | 1 |
| Dichlorodiphenyl Dichloroethylene | decreases expression | 1 |
| Estradiol | affects cotreatment, decreases expression | 1 |
| Methotrexate | decreases expression | 1 |
Clinical trials (associated diseases)
300 trials via MONDO — disease-level, not drug-specific.
| Trial | Phase | Status | Title |
|---|---|---|---|
| NCT00211796 | PHASE4 | COMPLETED | Divalproex Sodium ER in Adult Autism |
| NCT00391261 | PHASE4 | COMPLETED | An Open-label Trial of Metformin for Weight Control of Pediatric Patients on Antipsychotic Medications. |
| NCT00409747 | PHASE4 | COMPLETED | Minocycline to Treat Childhood Regressive Autism |
| NCT00576732 | PHASE4 | COMPLETED | A Study of the Effectiveness and Safety of Two Doses of Risperidone in the Treatment of Children and Adolescents With Autistic Disorder |
| NCT00844753 | PHASE4 | COMPLETED | Atomoxetine, Placebo and Parent Management Training in Autism |
| NCT01028820 | PHASE4 | COMPLETED | FMRI Brain Activation of Aripiprazole Treatment in Autism Spectrum Disorders |
| NCT01098383 | PHASE4 | UNKNOWN | Treatment With Acetyl-Choline Esterase Inhibitors in Children With Autism Spectrum Disorders |
| NCT01333865 | PHASE4 | COMPLETED | A Study of Memantine Hydrochloride (Namenda®) for Cognitive and Behavioral Impairment in Adults With Autism Spectrum Disorders |
| NCT01337700 | PHASE4 | COMPLETED | Milnacipran in Autism and the Functional Locus Coeruleus and Noradrenergic Model of Autism |
| NCT01695200 | PHASE4 | COMPLETED | Omega-3 Fatty Acids in Autism Spectrum Disorders |
| NCT02069977 | PHASE4 | UNKNOWN | Study to Evaluate the Efficacy and Safety of Aripiprazole |
| NCT02096952 | PHASE4 | COMPLETED | Methylphenidate ER Liquid Formulation in Adults With ASD and ADHD |
| NCT02199925 | PHASE4 | UNKNOWN | An Open-Label Study to Evaluate the Efficacy of High-Dose Gammaplex in Children on the Autism Spectrum |
| NCT02235467 | PHASE4 | COMPLETED | Multisite Study: Parental Training Using Video Modelling to Develop Social Skills in Children With Autism |
| NCT02255565 | PHASE4 | COMPLETED | Dose Response Effects of Quillivant XR in Children With ADHD and Autism: A Pilot Study |
| NCT02940574 | PHASE4 | COMPLETED | Neural and Behavioral Effects of Oxytocin in Autism Spectrum Disorders |
| NCT03333629 | PHASE4 | COMPLETED | Promoting Positive Outcomes for Individuals With ASD: Linking Early Detection, Treatment, and Long-term Outcomes |
| NCT03337646 | PHASE4 | COMPLETED | Evaluation of the Effect and Safety of Lisdexamfetamine in Children Aged 6-12 With ADHD and Autism |
| NCT03538431 | PHASE4 | COMPLETED | Improving Driving in Young People With Autism Spectrum Disorders |
| NCT03757585 | PHASE4 | COMPLETED | Natural Treatments for the Management of Emotional Dysregulation in Youth With Non-verbal Learning Disability (NVLD) and/or Autism Spectrum Disorders (ASD) |
| NCT04903353 | PHASE4 | COMPLETED | Pragmatic Trial Comparing Weight Gain in Children With Autism Taking Risperidone Versus Aripiprazole |
| NCT05063656 | PHASE4 | COMPLETED | Biomarker-Driven Pharmacological Treatment of Adolescents With Autism Spectrum Disorder With Gabapentin |
| NCT05146245 | PHASE4 | UNKNOWN | Safety and Pharmacokinetics of Antipsychotics in Children 2: Studying TDM in an RCT |
| NCT05916339 | PHASE4 | RECRUITING | AWARE: Management of ADHD in Autism Spectrum Disorder |
| NCT05954052 | PHASE4 | TERMINATED | A Study of Glutathione in Children With Autism Spectrum Disorder |
| NCT06853665 | PHASE4 | RECRUITING | The TEAM Study - Treatment Efficacy for Autism/Attention Using Mixed Amphetamine |
| NCT07054697 | PHASE4 | COMPLETED | Pilot-RCT With Individualized Homeopathic Treatment in the Children With Autism Spectrum Disorder |
| NCT07161804 | PHASE4 | COMPLETED | Pilot RCT Using Homeopathic Medicines in ASD |
| NCT07439042 | PHASE4 | NOT_YET_RECRUITING | Buspirone for Anxiety in Autistic Youth |
| NCT00036231 | PHASE3 | TERMINATED | Synthetic Human Secretin in Children With Autism and Gastrointestinal Dysfunction |
| NCT00036244 | PHASE3 | COMPLETED | Synthetic Human Secretin in Children With Autism |
| NCT00065884 | PHASE3 | UNKNOWN | Valproate Response in Aggressive Autistic Adolescents |
| NCT00065962 | PHASE3 | COMPLETED | Secretin for the Treatment of Autism |
| NCT00252603 | PHASE3 | COMPLETED | Galantamine Versus Placebo in Childhood Autism |
| NCT00346736 | PHASE3 | COMPLETED | Use of Acupuncture In Children With Autistic Spectrum Disorder |
| NCT00352248 | PHASE3 | COMPLETED | Randomized Controlled Trial of Acupuncture Versus Sham Acupuncture in Autistic Spectrum Disorder |
| NCT00352352 | PHASE3 | COMPLETED | Use of Acupuncture In Children With Autistic Spectrum Disorder |
| NCT00355329 | PHASE3 | COMPLETED | Randomized Control Trial of Using Tongue Acupuncture in Autistic Spectrum Disorder Using PET Scan for Clinical Correlation |
| NCT00498173 | PHASE3 | COMPLETED | Effectiveness of Atomoxetine in Treating ADHD Symptoms in Children and Adolescents With Autism |
| NCT00541346 | PHASE3 | COMPLETED | A Pilot Study of Daytrana TM in Children With Autism Co-Morbid for Attention Deficit Hyperactivity Disorder (ADHD) Symptoms |
Related Atlas pages
No linked Atlas pages yet — the cross-entity mesh grows as the corpus expands.