FEZF2
geneOn this page
Also known as FLJ10142FKSG36TOFFEZLZfp312
Summary
FEZF2 (FEZ family zinc finger 2, HGNC:13506) is a protein-coding gene on chromosome 3p14.2, encoding Fez family zinc finger protein 2 (Q8TBJ5). Transcription repressor.
Predicted to enable several functions, including DNA-binding transcription factor activity, RNA polymerase II-specific; RNA polymerase II cis-regulatory region sequence-specific DNA binding activity; and zinc ion binding activity. Predicted to be involved in regulation of gene expression. Predicted to act upstream of or within several processes, including negative regulation of transcription by RNA polymerase II; nervous system development; and regulation of neuron differentiation. Predicted to be active in nucleus.
Source: NCBI Gene 55079 — RefSeq curated summary.
At a glance
- Gene–disease (curated): neurodevelopmental disorder (Strong, GenCC) — +1 more curated relationship
- GWAS associations: 2
- Clinical variants (ClinVar): 77 total — 2 pathogenic, 3 likely-pathogenic
- MANE Select transcript:
NM_018008
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:13506 |
| Approved symbol | FEZF2 |
| Name | FEZ family zinc finger 2 |
| Location | 3p14.2 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | FLJ10142, FKSG36, TOF, FEZL, Zfp312 |
| Ensembl gene | ENSG00000153266 |
| Ensembl biotype | protein_coding |
| OMIM | 607414 |
| Entrez | 55079 |
Gene structure
Transcript identifiers
Ensembl transcripts: 4 — 4 protein_coding
ENST00000283268, ENST00000475839, ENST00000486811, ENST00000951993
RefSeq mRNA: 1 — MANE Select: NM_018008
NM_018008
CCDS: CCDS2897
Canonical transcript exons
ENST00000283268 — 5 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001009883 | 62371533 | 62371667 |
| ENSE00001009885 | 62372017 | 62372926 |
| ENSE00001206205 | 62373279 | 62373550 |
| ENSE00001949701 | 62369681 | 62370342 |
| ENSE00002376776 | 62371217 | 62371349 |
Expression profiles
Bgee: expression breadth broad, 90 present calls, max score 98.86.
FANTOM5 (CAGE): breadth tissue_specific, TPM avg 1.7843 / max 195.1946, expressed in 174 samples.
FANTOM5 promoters (11 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 42803 | 0.2683 | 113 |
| 42798 | 0.2178 | 82 |
| 42800 | 0.1941 | 78 |
| 42805 | 0.1897 | 50 |
| 42806 | 0.1673 | 54 |
| 42802 | 0.1600 | 89 |
| 42799 | 0.1594 | 79 |
| 42808 | 0.1582 | 66 |
| 42801 | 0.1222 | 70 |
| 42807 | 0.1140 | 52 |
Top tissues by expression
269 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| cortical plate | UBERON:0005343 | 98.86 | gold quality |
| ventricular zone | UBERON:0003053 | 94.37 | gold quality |
| ganglionic eminence | UBERON:0004023 | 90.69 | gold quality |
| sural nerve | UBERON:0015488 | 90.13 | gold quality |
| CA1 field of hippocampus | UBERON:0003881 | 86.71 | gold quality |
| Ammon’s horn | UBERON:0001954 | 85.69 | gold quality |
| endothelial cell | CL:0000115 | 85.43 | gold quality |
| anterior cingulate cortex | UBERON:0009835 | 84.48 | gold quality |
| cingulate cortex | UBERON:0003027 | 84.34 | gold quality |
| amygdala | UBERON:0001876 | 81.13 | gold quality |
| cerebral cortex | UBERON:0000956 | 81.06 | gold quality |
| secondary oocyte | CL:0000655 | 80.84 | gold quality |
| neocortex | UBERON:0001950 | 80.45 | gold quality |
| dorsolateral prefrontal cortex | UBERON:0009834 | 80.27 | gold quality |
| prefrontal cortex | UBERON:0000451 | 80.10 | gold quality |
| postcentral gyrus | UBERON:0002581 | 79.67 | gold quality |
| temporal lobe | UBERON:0001871 | 79.30 | gold quality |
| Brodmann (1909) area 9 | UBERON:0013540 | 79.19 | gold quality |
| frontal cortex | UBERON:0001870 | 79.14 | gold quality |
| entorhinal cortex | UBERON:0002728 | 78.69 | gold quality |
| right frontal lobe | UBERON:0002810 | 78.64 | gold quality |
| parietal lobe | UBERON:0001872 | 78.27 | gold quality |
| superior frontal gyrus | UBERON:0002661 | 77.73 | gold quality |
| telencephalon | UBERON:0001893 | 76.87 | gold quality |
| oocyte | CL:0000023 | 76.19 | gold quality |
| embryo | UBERON:0000922 | 74.55 | gold quality |
| primary visual cortex | UBERON:0002436 | 72.23 | gold quality |
| forebrain | UBERON:0001890 | 72.17 | gold quality |
| Brodmann (1909) area 46 | UBERON:0006483 | 71.50 | silver quality |
| occipital lobe | UBERON:0002021 | 70.89 | gold quality |
Single-cell (SCXA)
Detected in 2 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-HCAD-5 | yes | 384.80 |
| E-ANND-3 | no | 2.14 |
Regulation
Is transcription factor: yes
Downstream targets (CollecTRI)
9 targets.
| Target | Regulation |
|---|---|
| CCN2 | |
| CS | |
| FEZF2 | |
| HES5 | Repression |
| IAPP | |
| MDM2 | Repression |
| SEMA5A | Activation |
| SPON1 | |
| TBR1 |
JASPAR motifs
| Motif | Name | Family |
|---|---|---|
| MA2341.1 | FEZF2 | More than 3 adjacent zinc fingers |
JASPAR matrix evidence (PMIDs): PMID:19879846
Upstream regulators (CollecTRI, top): FEZF2, NEUROG2, PAX6, RNF2, TBR1
miRNA regulators (miRDB)
64 targeting FEZF2, 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-190A-3P | 100.00 | 80.35 | 5520 |
| HSA-MIR-5011-5P | 100.00 | 83.46 | 5820 |
| HSA-MIR-4747-5P | 100.00 | 67.90 | 2681 |
| HSA-MIR-5196-5P | 100.00 | 67.98 | 2761 |
| HSA-MIR-3924 | 100.00 | 72.09 | 2394 |
| HSA-LET-7A-3P | 100.00 | 74.03 | 3932 |
| HSA-LET-7B-3P | 100.00 | 74.08 | 3913 |
| HSA-LET-7F-1-3P | 100.00 | 74.02 | 3928 |
| HSA-MIR-98-3P | 100.00 | 74.08 | 3907 |
| HSA-MIR-4775 | 99.98 | 75.00 | 6394 |
| HSA-MIR-520D-5P | 99.98 | 73.34 | 4883 |
| HSA-MIR-524-5P | 99.98 | 73.43 | 4882 |
| HSA-MIR-590-3P | 99.96 | 74.34 | 6478 |
| HSA-MIR-493-5P | 99.96 | 72.47 | 2382 |
| HSA-LET-7C-3P | 99.95 | 73.42 | 2862 |
| HSA-MIR-5680 | 99.91 | 69.83 | 3421 |
| HSA-MIR-4731-5P | 99.89 | 67.23 | 2537 |
| HSA-LET-7A-2-3P | 99.87 | 70.53 | 1921 |
| HSA-LET-7G-3P | 99.85 | 70.43 | 1929 |
| HSA-MIR-4728-5P | 99.85 | 69.39 | 4718 |
| HSA-MIR-3121-3P | 99.82 | 71.96 | 3630 |
| HSA-MIR-6785-5P | 99.82 | 68.68 | 4428 |
| HSA-MIR-92A-2-5P | 99.75 | 67.01 | 2164 |
| HSA-MIR-149-3P | 99.72 | 68.22 | 3963 |
| HSA-MIR-6883-5P | 99.69 | 68.05 | 3785 |
| HSA-MIR-1290 | 99.59 | 69.90 | 2079 |
| HSA-MIR-4687-3P | 99.48 | 66.41 | 968 |
| HSA-MIR-4728-3P | 99.47 | 68.94 | 981 |
| HSA-MIR-4666A-5P | 99.41 | 69.72 | 1887 |
| HSA-MIR-3140-5P | 99.39 | 69.04 | 1136 |
Literature-anchored findings (GeneRIF, showing 8)
- ZNF312 and other brain-layer biomarkers have area dependent expressions in the human fetal cortex. (PMID:20570630)
- the feasibility of employing genomic SELEX to identify vertebrate transcription factor binding sites and target genes and reveal Fezf2 as a transcription activator and a candidate for evaluation in human microcephaly. (PMID:21471212)
- overexpression of EZH2 was frequently detected in NPC tumors. Thus, we have identified FEZF2 as a novel 3p14.2 TSG frequently inactivated by promoter methylation in NPC, which functions as a repressor downregulating multiple oncogene expression (PMID:23677067)
- This study reports the differentiation of a hFezf2-YFP human embryonic stem cell reporter line into corticofugal projection neurons. (PMID:23826257)
- Fezf1 and Fezf2 accomplish both independent and redundant functions across diverse tissue and cell types. [Review] (PMID:24913420)
- FEZF2 expression has a role in cell proliferation and differentiation in adult neural stem cells. (PMID:25319688)
- Fezf2 expression is downregulated in bladder cancer tissues and cell lines compared to adjacent non-tumor tissues and normal urothelial cells. Overexpression of Fezf2 significantly inhibited the proliferation, growth, migration, and invasion of bladder cancer cells, and attenuated angiogenesis, while knockdown of Fezf2 had the opposite effect. (PMID:29925938)
- Rare predicted deleterious FEZF2 variants are associated with a neurodevelopmental phenotype. (PMID:38425142)
Cross-species orthologs
3 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | fezf2 | ENSDARG00000070677 |
| mus_musculus | Fezf2 | ENSMUSG00000021743 |
| rattus_norvegicus | Fezf2 | ENSRNOG00000009206 |
Paralogs (28): ZNF280C (ENSG00000056277), ZBTB25 (ENSG00000089775), PRDM13 (ENSG00000112238), BCL6 (ENSG00000113916), FEZF1 (ENSG00000128610), ZBTB46 (ENSG00000130584), PRDM12 (ENSG00000130711), ZNF280D (ENSG00000137871), NACC2 (ENSG00000148411), ZBTB7B (ENSG00000160685), NACC1 (ENSG00000160877), BCL6B (ENSG00000161940), GFI1 (ENSG00000162676), GFI1B (ENSG00000165702), ZBTB49 (ENSG00000168826), ZNF280A (ENSG00000169548), ZNF581 (ENSG00000171425), ZNF524 (ENSG00000171443), ZBTB26 (ENSG00000171448), ZBTB21 (ENSG00000173276), ZNF683 (ENSG00000176083), ZBTB33 (ENSG00000177485), ZBTB3 (ENSG00000185670), ZBTB6 (ENSG00000186130), ZBTB14 (ENSG00000198081), ZBTB12 (ENSG00000204366), ZNF580 (ENSG00000213015), ZNF280B (ENSG00000275004)
Protein
Protein identifiers
Fez family zinc finger protein 2 — Q8TBJ5 (reviewed: Q8TBJ5)
Alternative names: Forebrain embryonic zinc finger-like protein 2, Zinc finger protein 312, Zinc finger protein Fez-like
All UniProt accessions (2): Q8TBJ5, A0A140VKG3
UniProt curated annotations — full annotation on UniProt →
Function. Transcription repressor. Required for the specification of corticospinal motor neurons and other subcerebral projection neurons. May play a role in layer and neuronal subtype-specific patterning of subcortical projections and axonal fasciculation. Controls the development of dendritic arborization and spines of large layer V pyramidal neurons. May be involved in innate immunity.
Subcellular location. Nucleus.
Similarity. Belongs to the krueppel C2H2-type zinc-finger protein family.
Isoforms (2)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q8TBJ5-1 | 1 | yes |
| Q8TBJ5-2 | 2 |
RefSeq proteins (1): NP_060478* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR013087 | Znf_C2H2_type | Domain |
| IPR036236 | Znf_C2H2_sf | Homologous_superfamily |
Pfam: PF00096, PF13912
UniProt features (15 total): zinc finger region 6, sequence variant 3, splice variant 2, chain 1, sequence conflict 1, region of interest 1, short sequence motif 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q8TBJ5-F1 | 55.45 | 0.00 |
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 225 (showing top):
GOBP_FOREBRAIN_NEURON_DEVELOPMENT, GOBP_DENDRITE_DEVELOPMENT, GOBP_DENTATE_GYRUS_DEVELOPMENT, RRAGTTGT_UNKNOWN, LEE_NEURAL_CREST_STEM_CELL_DN, GOBP_NEURON_RECOGNITION, GOBP_NEGATIVE_REGULATION_OF_NEURON_DIFFERENTIATION, BENPORATH_ES_WITH_H3K27ME3, HNF3ALPHA_Q6, GOBP_BEHAVIOR, PAX4_01, GOBP_POSITIVE_REGULATION_OF_NEURON_DIFFERENTIATION, CGGAARNGGCNG_UNKNOWN, AACYNNNNTTCCS_UNKNOWN, GOBP_NEUROGENESIS
GO Biological Process (26): axonal fasciculation (GO:0007413), locomotory behavior (GO:0007626), negative regulation of cell population proliferation (GO:0008285), regulation of gene expression (GO:0010468), dendrite development (GO:0016358), dentate gyrus development (GO:0021542), forebrain anterior/posterior pattern specification (GO:0021797), cerebral cortex GABAergic interneuron migration (GO:0021853), commitment of neuronal cell to specific neuron type in forebrain (GO:0021902), cell dedifferentiation (GO:0043697), negative regulation of neuron differentiation (GO:0045665), positive regulation of neuron differentiation (GO:0045666), neuron fate determination (GO:0048664), regulation of neurogenesis (GO:0050767), regulation of axon guidance (GO:1902667), negative regulation of transcription by RNA polymerase II (GO:0000122), nervous system development (GO:0007399), telencephalon development (GO:0021537), cerebral cortex neuron differentiation (GO:0021895), central nervous system neuron differentiation (GO:0021953), cell differentiation (GO:0030154), neuron differentiation (GO:0030182), forebrain development (GO:0030900), positive regulation of DNA-templated transcription (GO:0045893), positive regulation of transcription by RNA polymerase II (GO:0045944), GABAergic neuron differentiation (GO:0097154)
GO Molecular Function (9): RNA polymerase II cis-regulatory region sequence-specific DNA binding (GO:0000978), DNA-binding transcription repressor activity, RNA polymerase II-specific (GO:0001227), DNA-binding transcription activator activity, RNA polymerase II-specific (GO:0001228), chromatin binding (GO:0003682), zinc ion binding (GO:0008270), transcription cis-regulatory region binding (GO:0000976), DNA binding (GO:0003677), sequence-specific DNA binding (GO:0043565), metal ion binding (GO:0046872)
GO Cellular Component (1): nucleus (GO:0005634)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| anatomical structure development | 3 |
| neuron differentiation | 3 |
| RNA polymerase II transcription regulatory region sequence-specific DNA binding | 3 |
| regulation of neuron differentiation | 2 |
| DNA-binding transcription factor activity, RNA polymerase II-specific | 2 |
| neuron recognition | 1 |
| axon development | 1 |
| neuron projection fasciculation | 1 |
| behavior | 1 |
| cell population proliferation | 1 |
| regulation of cell population proliferation | 1 |
| negative regulation of cellular process | 1 |
| gene expression | 1 |
| regulation of macromolecule biosynthetic process | 1 |
| neuron projection development | 1 |
| hippocampus development | 1 |
| anterior/posterior pattern specification | 1 |
| forebrain regionalization | 1 |
| interneuron migration from the subpallium to the cortex | 1 |
| cerebral cortex GABAergic interneuron development | 1 |
| interneuron migration | 1 |
| forebrain neuron fate commitment | 1 |
| dedifferentiation | 1 |
| cellular developmental process | 1 |
| negative regulation of cell differentiation | 1 |
| positive regulation of cell differentiation | 1 |
| cell fate determination | 1 |
| neuron fate commitment | 1 |
| neurogenesis | 1 |
| regulation of nervous system development | 1 |
| regulation of cell development | 1 |
| axon guidance | 1 |
| regulation of neuron projection development | 1 |
| regulation of chemotaxis | 1 |
| regulation of transcription by RNA polymerase II | 1 |
| transcription by RNA polymerase II | 1 |
| negative regulation of DNA-templated transcription | 1 |
| system development | 1 |
| forebrain development | 1 |
| forebrain neuron differentiation | 1 |
Protein interactions and networks
STRING
1410 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| FEZF2 | TBR1 | Q16650 | 932 |
| FEZF2 | SOX5 | P35711 | 758 |
| FEZF2 | SATB2 | Q9UPW6 | 747 |
| FEZF2 | NEUROD6 | Q96NK8 | 713 |
| FEZF2 | FOXG1 | P55315 | 699 |
| FEZF2 | PAX6 | P26367 | 695 |
| FEZF2 | CUX2 | O14529 | 675 |
| FEZF2 | AIRE | O43918 | 613 |
| FEZF2 | EMX1 | Q04741 | 601 |
| FEZF2 | TH | P07101 | 567 |
| FEZF2 | CUX1 | P39880 | 564 |
| FEZF2 | NEUROG2 | Q9H2A3 | 560 |
| FEZF2 | RORB | Q92753 | 557 |
| FEZF2 | LHX2 | P50458 | 554 |
| FEZF2 | EMX2 | Q04743 | 544 |
IntAct
3 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| APP | FEZF2 | psi-mi:“MI:0915”(physical association) | 0.000 |
BioGRID (6): FEZF2 (Affinity Capture-MS), FEZF2 (Affinity Capture-MS), FEZF2 (Two-hybrid), FEZF2 (Cross-Linking-MS (XL-MS)), HDAC1 (Affinity Capture-Western), FEZF2 (Affinity Capture-Western)
ESM2 similar proteins: A0JPB4, A0PJY2, B0K011, O08876, O15090, O57415, O62651, O70237, O75626, O95863, P19544, P22561, P41183, P49952, P55878, P86413, Q02085, Q08DS3, Q0IHB8, Q0P4W9, Q0VDQ9, Q25C93, Q28G88, Q2TAR3, Q2VWH6, Q32NK7, Q3MHQ4, Q3T135, Q3UH06, Q567J8, Q5T0B9, Q5VTD9, Q5XJQ7, Q60636, Q62255, Q66JF8, Q6AY34, Q6DBW0, Q6NRM0, Q804Q5
Diamond homologs: A0PJY2, Q0P4W9, Q0VDQ9, Q25C93, Q28G88, Q2TAR3, Q2VWH6, Q804Q5, Q8TBJ5, Q9ESP5, Q9IAJ2, Q9VQ56, P60319
SIGNOR signaling
2 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| TBR1 | “down-regulates quantity by repression” | FEZF2 | “transcriptional regulation” |
| FEZF2 | “down-regulates quantity by repression” | MDM2 | “transcriptional regulation” |
Disease & clinical
Clinical variants and AI predictions
ClinVar
77 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 2 |
| Likely pathogenic | 3 |
| Uncertain significance | 67 |
| Likely benign | 2 |
| Benign | 2 |
Top pathogenic / likely-pathogenic (5)
| Variant ID | HGVS | Classification |
|---|---|---|
| 3774179 | NM_018008.4(FEZF2):c.1014C>A (p.Cys338Ter) | Pathogenic |
| 4715858 | NM_018008.4(FEZF2):c.930C>A (p.Cys310Ter) | Pathogenic |
| 3367203 | NM_018008.4(FEZF2):c.801_802dup (p.Gly268fs) | Likely pathogenic |
| 3377075 | NM_018008.4(FEZF2):c.1266C>G (p.Cys422Trp) | Likely pathogenic |
| 4280601 | NM_018008.4(FEZF2):c.1298_1302del (p.Lys433fs) | Likely pathogenic |
SpliceAI
582 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 3:62371211:CGTTA:C | donor_loss | 1.0000 |
| 3:62371212:GTTAC:G | donor_loss | 1.0000 |
| 3:62371213:TTACC:T | donor_loss | 1.0000 |
| 3:62371214:TAC:T | donor_loss | 1.0000 |
| 3:62371216:C:CG | donor_loss | 1.0000 |
| 3:62371345:TTTTC:T | acceptor_gain | 1.0000 |
| 3:62371346:TTTC:T | acceptor_gain | 1.0000 |
| 3:62371347:TTC:T | acceptor_gain | 1.0000 |
| 3:62371348:TC:T | acceptor_gain | 1.0000 |
| 3:62371349:CC:C | acceptor_gain | 1.0000 |
| 3:62371350:C:CC | acceptor_gain | 1.0000 |
| 3:62371351:T:G | acceptor_loss | 1.0000 |
| 3:62371629:CGGCA:C | acceptor_gain | 1.0000 |
| 3:62371630:G:T | acceptor_gain | 1.0000 |
| 3:62371633:A:C | acceptor_gain | 1.0000 |
| 3:62371665:CAC:C | acceptor_gain | 1.0000 |
| 3:62371669:T:A | acceptor_loss | 1.0000 |
| 3:62372016:C:A | donor_loss | 1.0000 |
| 3:62370339:TTCC:T | acceptor_gain | 0.9900 |
| 3:62370340:TCC:T | acceptor_gain | 0.9900 |
| 3:62370341:CC:C | acceptor_gain | 0.9900 |
| 3:62370341:CCC:C | acceptor_gain | 0.9900 |
| 3:62370342:CC:C | acceptor_gain | 0.9900 |
| 3:62370343:C:CC | acceptor_gain | 0.9900 |
| 3:62370343:CTACA:C | acceptor_loss | 0.9900 |
| 3:62371346:TTTCC:T | acceptor_gain | 0.9900 |
| 3:62371347:TTCCT:T | acceptor_gain | 0.9900 |
| 3:62371348:TCCT:T | acceptor_gain | 0.9900 |
| 3:62371528:CGTA:C | donor_loss | 0.9900 |
| 3:62371529:GTAC:G | donor_loss | 0.9900 |
AlphaMissense
0 scored. Top likely-pathogenic:
dbSNP variants (sampled 300 via entrez): RS1001044554 (3:62371211 C>G,T), RS1003033668 (3:62371733 G>A,T), RS1003370551 (3:62375236 G>A,T), RS1003382970 (3:62373497 G>A), RS1003501078 (3:62373176 C>A,T), RS1004779492 (3:62370556 C>T), RS1005437757 (3:62373542 C>T), RS1005906283 (3:62373852 G>C), RS1006614711 (3:62374002 C>A,T), RS1006842890 (3:62372119 C>A,G), RS1007089745 (3:62374270 G>A), RS1007838788 (3:62370544 C>A,G,T), RS1008282426 (3:62374550 G>A,C), RS1008488753 (3:62369555 C>T), RS1009022093 (3:62375438 T>C)
Disease associations
OMIM: gene MIM:607414 | disease phenotypes: MIM:610532
GenCC curated gene-disease
| Disease | Classification | Inheritance |
|---|---|---|
| neurodevelopmental disorder | Strong | Autosomal dominant |
| complex neurodevelopmental disorder | Limited | Autosomal dominant |
Mondo (3): neurodevelopmental disorder (MONDO:0700092), hypomyelinating leukodystrophy 5 (MONDO:0012514), complex neurodevelopmental disorder (MONDO:0100038)
Orphanet (1): Hypomyelination-congenital cataract syndrome (Orphanet:85163)
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
2 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST009391_1585 | Metabolite levels | 7.000000e-06 |
| GCST90000047_46 | Age at first sexual intercourse | 5.000000e-08 |
EFO canonical traits (2, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0010349 | cholesteryl ester 20:5 measurement |
| EFO:0009749 | age at first sexual intercourse measurement |
MeSH disease descriptors (2)
| Descriptor | Name | Tree numbers |
|---|---|---|
| D065886 | Neurodevelopmental Disorders | F03.625 |
| C567166 | Leukodystrophy, Hypomyelinating, 5 (supp.) |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
26 total (human), top 26 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Valproic Acid | affects cotreatment, decreases expression, affects expression | 7 |
| trichostatin A | affects cotreatment, decreases expression | 3 |
| mercuric bromide | decreases expression, affects cotreatment | 2 |
| entinostat | decreases expression, affects cotreatment | 2 |
| Vorinostat | affects cotreatment, decreases expression | 2 |
| Panobinostat | affects cotreatment, decreases expression | 2 |
| Phenylmercuric Acetate | affects cotreatment, decreases expression | 2 |
| p-Chloromercuribenzoic Acid | affects cotreatment, decreases expression | 2 |
| methylmercuric chloride | decreases expression | 1 |
| bisphenol A | affects cotreatment, decreases methylation | 1 |
| ethyl-p-hydroxybenzoate | increases expression | 1 |
| arsenite | increases methylation | 1 |
| 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide | affects cotreatment, decreases expression | 1 |
| dorsomorphin | affects cotreatment, decreases expression | 1 |
| Resveratrol | affects cotreatment, decreases expression | 1 |
| Fulvestrant | affects cotreatment, decreases methylation | 1 |
| Air Pollutants | affects methylation, increases abundance | 1 |
| Arsenic | increases methylation | 1 |
| Benzo(a)pyrene | affects methylation, increases methylation | 1 |
| Diethylhexyl Phthalate | decreases expression | 1 |
| Nitrogen Dioxide | increases abundance, affects methylation | 1 |
| Plant Extracts | affects cotreatment, decreases expression | 1 |
| Silver | decreases expression | 1 |
| Tretinoin | decreases expression | 1 |
| Aflatoxin B1 | decreases methylation | 1 |
| Particulate Matter | affects methylation, increases abundance | 1 |
Clinical trials (associated diseases)
204 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, |
| 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 |
| 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 |
| 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 |
| NCT06310681 | Not specified | COMPLETED | Pilot Testing of a Co-adapted Group Programme for Parents/Carers of Children With Complex Neurodisability |
| NCT07303049 | Not specified | NOT_YET_RECRUITING | Cognitive Benefit of Intensive Rehabilitation Using Rhythmic Music Training in Children With Complex Neurodevelopmental Disorder |
| 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 |
| NCT02871674 | Not specified | UNKNOWN | Good Night Project: Behavioural Sleep Interventions for Children With ADHD: A Randomised Controlled Trial |
| NCT02887157 | Not specified | COMPLETED | Analyzing Retinal Microanatomy in ROP |
| NCT02898298 | Not specified | COMPLETED | Positive Emotion Regulation Training in Children, Adolescents and Young Adults With and Without Developmental Disorder |
| NCT02912780 | Not specified | UNKNOWN | Introduction of Microsystems in a Level 3 Neonatal Intensive Care Unit |
| NCT03023293 | Not specified | COMPLETED | n-3 PUFAs, Irisin and Maternal Glucose Metabolism From Pregnancy to Postpartum |
| NCT03023644 | Not specified | COMPLETED | Improving Neurodevelopmental Outcomes in Children With Congenital Heart Disease: An Intervention Study |
| NCT03032991 | Not specified | UNKNOWN | Early Biomarkers of Neurodevelopment in Offspring of Diabetic Mothers |
| NCT03088189 | Not specified | TERMINATED | Effect of Parental Peri-conceptional Vitamin B12 Supplementation on Infant Neurocognitive Development in Offspring |
| NCT03096028 | Not specified | COMPLETED | Developmental Origins of Mental Health Disorders |
| NCT03148782 | Not specified | COMPLETED | Brain Plasticity Underlying Acquisition of New Organizational Skills in Children-R61 Phase |
| NCT03172104 | Not specified | COMPLETED | Neurobehavioural Development of Infants Born <30 Weeks Gestational Age Between Birth and Five Years of Age |
| NCT03222375 | Not specified | RECRUITING | SQUED™ Series 28.1 Home-use and Treatment of Autowave Reverberator of Autism |
Related Atlas pages
- Associated diseases: complex neurodevelopmental disorder, neurodevelopmental disorder
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): complex neurodevelopmental disorder, hypomyelinating leukodystrophy 5, neurodevelopmental disorder