ZBTB34
gene geneOn this page
Also known as KIAA1993MGC24652ZNF918
Summary
ZBTB34 (zinc finger and BTB domain containing 34, HGNC:31446) is a protein-coding gene on chromosome 9q33.3, encoding Zinc finger and BTB domain-containing protein 34 (Q8NCN2). May be a transcriptional repressor.
Predicted to enable DNA-binding transcription repressor activity, RNA polymerase II-specific and RNA polymerase II cis-regulatory region sequence-specific DNA binding activity. Predicted to be involved in negative regulation of transcription by RNA polymerase II; regulation of cytokine production; and regulation of immune system process. Located in nucleoplasm.
Source: NCBI Gene 403341 — RefSeq curated summary.
At a glance
- GWAS associations: 2
- Clinical variants (ClinVar): 66 total
- MANE Select transcript:
NM_001099270
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:31446 |
| Approved symbol | ZBTB34 |
| Name | zinc finger and BTB domain containing 34 |
| Location | 9q33.3 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | KIAA1993, MGC24652, ZNF918 |
| Ensembl gene | ENSG00000177125 |
| Ensembl biotype | protein_coding |
| OMIM | 611692 |
| Entrez | 403341 |
Gene structure
Transcript identifiers
Ensembl transcripts: 4 — 4 protein_coding
ENST00000319119, ENST00000695642, ENST00000921402, ENST00000921403
RefSeq mRNA: 2 — MANE Select: NM_001099270
NM_001099270, NM_001395198
CCDS: CCDS48023, CCDS94483
Canonical transcript exons
ENST00000319119 — 2 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001259345 | 126879390 | 126885878 |
| ENSE00001423590 | 126860639 | 126860739 |
Expression profiles
Bgee: expression breadth ubiquitous, 246 present calls, max score 88.26.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 3.1666 / max 48.4883, expressed in 1429 samples.
FANTOM5 promoters (1 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 98579 | 3.1666 | 1429 |
Top tissues by expression
252 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| amniotic fluid | UBERON:0000173 | 88.26 | gold quality |
| cortical plate | UBERON:0005343 | 87.93 | gold quality |
| upper arm skin | UBERON:0004263 | 85.73 | gold quality |
| monocyte | CL:0000576 | 85.57 | gold quality |
| leukocyte | CL:0000738 | 85.21 | gold quality |
| tibia | UBERON:0000979 | 84.70 | gold quality |
| blood | UBERON:0000178 | 84.36 | gold quality |
| upper leg skin | UBERON:0004262 | 83.57 | gold quality |
| ileal mucosa | UBERON:0000331 | 83.35 | gold quality |
| adrenal tissue | UBERON:0018303 | 82.81 | gold quality |
| germinal epithelium of ovary | UBERON:0001304 | 81.95 | gold quality |
| bone marrow | UBERON:0002371 | 81.95 | gold quality |
| visceral pleura | UBERON:0002401 | 81.83 | gold quality |
| parietal pleura | UBERON:0002400 | 81.39 | gold quality |
| palpebral conjunctiva | UBERON:0001812 | 81.23 | gold quality |
| primordial germ cell in gonad | CL:0000670 ∩ UBERON:0000991 | 81.12 | gold quality |
| tibialis anterior | UBERON:0001385 | 80.05 | gold quality |
| placenta | UBERON:0001987 | 79.79 | gold quality |
| deltoid | UBERON:0001476 | 79.05 | silver quality |
| esophagus squamous epithelium | UBERON:0006920 | 79.03 | gold quality |
| pancreatic ductal cell | CL:0002079 | 78.92 | gold quality |
| skin of hip | UBERON:0001554 | 78.83 | gold quality |
| epithelial cell of pancreas | CL:0000083 | 78.72 | silver quality |
| male germ line stem cell (sensu Vertebrata) in testis | CL:0000089 ∩ UBERON:0000473 | 78.71 | gold quality |
| primary visual cortex | UBERON:0002436 | 78.67 | gold quality |
| pigmented layer of retina | UBERON:0001782 | 78.58 | gold quality |
| epithelium of nasopharynx | UBERON:0001951 | 78.51 | gold quality |
| bone marrow cell | CL:0002092 | 78.26 | gold quality |
| Brodmann (1909) area 23 | UBERON:0013554 | 77.18 | gold quality |
| granulocyte | CL:0000094 | 76.99 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 0.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | no | 2.85 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
361 targeting ZBTB34, 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-3163 | 100.00 | 77.23 | 8605 |
| HSA-MIR-29A-3P | 100.00 | 73.11 | 1835 |
| HSA-MIR-29B-3P | 100.00 | 73.18 | 1833 |
| HSA-MIR-29C-3P | 100.00 | 73.15 | 1833 |
| HSA-MIR-8485 | 100.00 | 77.57 | 4731 |
| HSA-MIR-513A-5P | 100.00 | 69.77 | 2465 |
| HSA-MIR-3613-3P | 100.00 | 76.36 | 7965 |
| HSA-MIR-340-5P | 100.00 | 72.50 | 4437 |
| HSA-MIR-4262 | 100.00 | 73.26 | 3931 |
| HSA-MIR-5193 | 100.00 | 67.26 | 1744 |
| HSA-MIR-6758-5P | 100.00 | 66.21 | 1470 |
| HSA-MIR-6856-5P | 100.00 | 65.47 | 1298 |
| HSA-MIR-30A-5P | 100.00 | 76.31 | 3233 |
| HSA-MIR-30B-5P | 100.00 | 76.29 | 3248 |
| HSA-MIR-30C-5P | 100.00 | 76.29 | 3248 |
| HSA-MIR-30D-5P | 100.00 | 76.32 | 3233 |
| HSA-MIR-30E-5P | 100.00 | 76.32 | 3242 |
| HSA-MIR-3924 | 100.00 | 72.09 | 2394 |
| HSA-MIR-9-5P | 100.00 | 72.28 | 2361 |
| HSA-MIR-4692 | 100.00 | 67.32 | 2066 |
| HSA-MIR-4282 | 99.99 | 75.36 | 6408 |
| HSA-MIR-33A-5P | 99.99 | 68.62 | 1055 |
| HSA-MIR-33B-5P | 99.99 | 68.58 | 1062 |
| HSA-MIR-371B-5P | 99.99 | 75.34 | 4759 |
| HSA-MIR-196A-1-3P | 99.99 | 72.15 | 2772 |
| HSA-MIR-4531 | 99.99 | 69.70 | 3181 |
| HSA-MIR-181A-5P | 99.99 | 72.96 | 2995 |
| HSA-MIR-181B-5P | 99.99 | 72.97 | 2996 |
Literature-anchored findings (GeneRIF, showing 1)
- This present work as the first report about the functional exploration of the novel ZBTB34 gene would be contributed to profound understanding of the transcriptional regulation via BTB/POZ protein family. (PMID:16718364)
Cross-species orthologs
3 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | zbtb34 | ENSDARG00000013492 |
| mus_musculus | Zbtb34 | ENSMUSG00000068966 |
| rattus_norvegicus | Zbtb34 | ENSRNOG00000032700 |
Paralogs (36): ZNF302 (ENSG00000089335), ZNF184 (ENSG00000096654), CTCF (ENSG00000102974), ZNF574 (ENSG00000105732), ZBTB24 (ENSG00000112365), ZNF142 (ENSG00000115568), CTCFL (ENSG00000124092), ZNF473 (ENSG00000142528), ZNF827 (ENSG00000151612), ZNF689 (ENSG00000156853), ZNF208 (ENSG00000160321), ZNF91 (ENSG00000167232), ZNF526 (ENSG00000167625), ZNF764 (ENSG00000169951), ZNF747 (ENSG00000169955), ZNF282 (ENSG00000170265), ZNF160 (ENSG00000170949), ZNF497 (ENSG00000174586), ZNF771 (ENSG00000179965), ZNF48 (ENSG00000180035), ZNF594 (ENSG00000180626), ZBTB37 (ENSG00000185278), ZFP92 (ENSG00000189420), ZNF107 (ENSG00000196247), ZNF729 (ENSG00000196350), ZNF569 (ENSG00000196437), ZNF420 (ENSG00000197050), ZNF785 (ENSG00000197162), ZNF665 (ENSG00000197497), ZNF181 (ENSG00000197841), ZNF347 (ENSG00000197937), ZNF84 (ENSG00000198040), ZBTB48 (ENSG00000204859), ZNF845 (ENSG00000213799), ZNF99 (ENSG00000213973), ZNF688 (ENSG00000229809)
Protein
Protein identifiers
Zinc finger and BTB domain-containing protein 34 — Q8NCN2 (reviewed: Q8NCN2)
All UniProt accessions (2): A0A0C4DFQ2, A0A8Q3WKM1
UniProt curated annotations — full annotation on UniProt →
Function. May be a transcriptional repressor.
Subcellular location. Nucleus.
Tissue specificity. Expressed in several tissues, including heart, brain, thymus, skeletal muscle, small intestine, testis, kidney, placenta, peripheral blood cells and adult and fetal liver.
RefSeq proteins (2): NP_001092740, NP_001382127 (=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR000210 | BTB/POZ_dom | Domain |
| IPR011333 | SKP1/BTB/POZ_sf | Homologous_superfamily |
| IPR013087 | Znf_C2H2_type | Domain |
| IPR036236 | Znf_C2H2_sf | Homologous_superfamily |
| IPR050457 | ZnFinger_BTB_dom_contain | Family |
Pfam: PF00096, PF00651, PF13894
UniProt features (17 total): cross-link 4, region of interest 4, zinc finger region 3, compositionally biased region 2, modified residue 2, chain 1, domain 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q8NCN2-F1 | 55.17 | 0.11 |
Functional residue map
Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.
Post-translational modifications (6): 164, 463, 235, 237, 426, 474
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 177 (showing top):
GOBP_CYTOKINE_PRODUCTION, GARGALOVIC_RESPONSE_TO_OXIDIZED_PHOSPHOLIPIDS_TURQUOISE_UP, ACEVEDO_METHYLATED_IN_LIVER_CANCER_DN, GEORGES_TARGETS_OF_MIR192_AND_MIR215, GOMF_SEQUENCE_SPECIFIC_DNA_BINDING, LU_EZH2_TARGETS_DN, GOBP_NEGATIVE_REGULATION_OF_TRANSCRIPTION_BY_RNA_POLYMERASE_II, GOBP_NEGATIVE_REGULATION_OF_NUCLEOBASE_CONTAINING_COMPOUND_METABOLIC_PROCESS, GOMF_DNA_BINDING_TRANSCRIPTION_REPRESSOR_ACTIVITY, GOMF_TRANSCRIPTION_REGULATOR_ACTIVITY, GSE14415_NATURAL_TREG_VS_TCONV_UP, HAND1_TARGET_GENES, HMG20B_TARGET_GENES, RLF_TARGET_GENES, TAFAZZIN_TARGET_GENES
GO Biological Process (3): negative regulation of transcription by RNA polymerase II (GO:0000122), regulation of cytokine production (GO:0001817), regulation of immune system process (GO:0002682)
GO Molecular Function (7): RNA polymerase II cis-regulatory region sequence-specific DNA binding (GO:0000978), DNA-binding transcription factor activity, RNA polymerase II-specific (GO:0000981), DNA-binding transcription repressor activity, RNA polymerase II-specific (GO:0001227), zinc ion binding (GO:0008270), DNA binding (GO:0003677), protein binding (GO:0005515), metal ion binding (GO:0046872)
GO Cellular Component (3): chromatin (GO:0000785), nucleoplasm (GO:0005654), nucleus (GO:0005634)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| RNA polymerase II transcription regulatory region sequence-specific DNA binding | 3 |
| regulation of transcription by RNA polymerase II | 2 |
| cellular anatomical structure | 2 |
| transcription by RNA polymerase II | 1 |
| negative regulation of DNA-templated transcription | 1 |
| cytokine production | 1 |
| regulation of gene expression | 1 |
| regulation of multicellular organismal process | 1 |
| immune system process | 1 |
| regulation of biological process | 1 |
| cis-regulatory region sequence-specific DNA binding | 1 |
| chromatin | 1 |
| DNA-binding transcription factor activity | 1 |
| negative regulation of transcription by RNA polymerase II | 1 |
| DNA-binding transcription factor activity, RNA polymerase II-specific | 1 |
| DNA-binding transcription repressor activity | 1 |
| transition metal ion binding | 1 |
| nucleic acid binding | 1 |
| binding | 1 |
| cation binding | 1 |
| chromosome | 1 |
| nuclear lumen | 1 |
| intracellular membrane-bounded organelle | 1 |
Protein interactions and networks
STRING
550 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| ZBTB34 | LGALS4 | P56470 | 648 |
| ZBTB34 | RPP14 | O95059 | 480 |
| ZBTB34 | RHBDD2 | Q6NTF9 | 424 |
| ZBTB34 | TASP1 | Q9H6P5 | 388 |
| ZBTB34 | GABRR3 | A8MPY1 | 386 |
| ZBTB34 | NDFIP2 | Q9NV92 | 381 |
| ZBTB34 | JMJD4 | Q9H9V9 | 360 |
| ZBTB34 | IMPG1 | Q17R60 | 354 |
| ZBTB34 | DARS2 | Q6PI48 | 349 |
| ZBTB34 | DRC3 | Q9H069 | 339 |
| ZBTB34 | CAMSAP1 | Q5T5Y3 | 333 |
| ZBTB34 | WBP2 | Q969T9 | 331 |
| ZBTB34 | MANBAL | Q9NQG1 | 326 |
| ZBTB34 | RAB11FIP2 | Q7L804 | 325 |
| ZBTB34 | GAPVD1 | Q14C86 | 324 |
IntAct
36 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| ZBTB34 | TDRKH | psi-mi:“MI:0915”(physical association) | 0.670 |
| ZBTB34 | BACH2 | psi-mi:“MI:0915”(physical association) | 0.670 |
| KLHL22 | TMEM223 | psi-mi:“MI:0914”(association) | 0.640 |
| ZBTB34 | PIAS4 | psi-mi:“MI:0915”(physical association) | 0.560 |
| ZBTB34 | RNF4 | psi-mi:“MI:0915”(physical association) | 0.560 |
| ZBTB34 | ZBTB26 | psi-mi:“MI:0915”(physical association) | 0.560 |
| PIAS4 | ZBTB34 | psi-mi:“MI:0915”(physical association) | 0.560 |
| RNF4 | ZBTB34 | psi-mi:“MI:0915”(physical association) | 0.560 |
| FOXP3 | FOXP2 | psi-mi:“MI:0914”(association) | 0.530 |
| FOXN3 | RFX1 | psi-mi:“MI:0914”(association) | 0.530 |
| FOXC2 | ZNF536 | psi-mi:“MI:0914”(association) | 0.350 |
| FOXE1 | DDX39A | psi-mi:“MI:0914”(association) | 0.350 |
| FOXJ2 | TCERG1 | psi-mi:“MI:0914”(association) | 0.350 |
| PB2 | ESYT2 | psi-mi:“MI:0914”(association) | 0.350 |
| L3MBTL1 | ZNF195 | psi-mi:“MI:0914”(association) | 0.350 |
| TH | MAP3K7 | psi-mi:“MI:0914”(association) | 0.350 |
| FOXN3 | RFX1 | psi-mi:“MI:0914”(association) | 0.350 |
| ZBTB34 | KPNA3 | psi-mi:“MI:0914”(association) | 0.350 |
| ABTB2 | IFT56 | psi-mi:“MI:0914”(association) | 0.350 |
| FBLN5 | ZNF320 | psi-mi:“MI:0914”(association) | 0.350 |
| ZBTB34 | CHEK1 | psi-mi:“MI:0914”(association) | 0.350 |
| ZBTB24 | BACH1 | psi-mi:“MI:0914”(association) | 0.350 |
| TDRKH | ESPL1 | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (37): ZBTB34 (Affinity Capture-MS), ZBTB34 (Affinity Capture-MS), ZBTB34 (Affinity Capture-MS), ZBTB34 (Affinity Capture-MS), ZBTB34 (Affinity Capture-MS), ZBTB34 (Affinity Capture-MS), ZBTB34 (Affinity Capture-MS), ZBTB34 (Affinity Capture-MS), ZBTB34 (Two-hybrid), ZBTB34 (Two-hybrid), ZBTB34 (Two-hybrid), ZBTB34 (Two-hybrid), TDRKH (Two-hybrid), ZBTB34 (Affinity Capture-MS), BACH2 (Affinity Capture-MS)
ESM2 similar proteins: A0A1D5NS60, A0JN76, A1L2U9, B1WAZ8, E9Q3T6, O15060, O15062, O35260, O93567, P41182, P41183, Q05516, Q0IH98, Q0IJ29, Q0P4X6, Q0V8G8, Q1L8W0, Q3B725, Q3B7N9, Q3SWU4, Q5EAC5, Q5EXX3, Q5R5N5, Q5SW75, Q5ZM39, Q6DDV0, Q6NRK3, Q6NRM8, Q6ZSB9, Q7TQG0, Q7TS63, Q7TSZ8, Q7ZWZ4, Q801P1, Q80X44, Q86VK4, Q8BKX7, Q8BXX2, Q8CII0, Q8NAP3
Diamond homologs: A0A1B8YAB1, A1YPR0, B0WWP2, B1H285, B3M9V8, B3NDN0, B4GRJ2, B4HIK1, B4J045, B4L0G9, B4LIG6, B4MXW3, B4PD06, B4QLQ2, C9JR72, D3Z8N4, E0CZ16, G3X9X1, O15062, O88939, O93567, O95365, P28575, P41182, P41183, Q08CL3, Q08DK3, Q13105, Q16RL8, Q2M0J9, Q3UQV5, Q52KB5, Q5EXX3, Q5R7B8, Q5RDY3, Q5TC79, Q5ZI33, Q5ZKD9, Q5ZM39, Q60821
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
66 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 55 |
| Likely benign | 0 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
254 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 9:126880915:GATG:G | donor_gain | 0.9900 |
| 9:126880924:G:GT | donor_gain | 0.9900 |
| 9:126885156:GTAA:G | acceptor_gain | 0.9700 |
| 9:126885156:G:GA | acceptor_gain | 0.9100 |
| 9:126879598:T:G | donor_gain | 0.8600 |
| 9:126880813:GATGT:G | donor_gain | 0.8400 |
| 9:126885157:T:G | acceptor_gain | 0.8000 |
| 9:126882811:G:GC | acceptor_gain | 0.7900 |
| 9:126880713:G:GT | donor_gain | 0.7500 |
| 9:126880914:AGATG:A | donor_loss | 0.7300 |
| 9:126880916:ATG:A | donor_loss | 0.7300 |
| 9:126880917:TGGT:T | donor_loss | 0.7300 |
| 9:126880918:GGTAA:G | donor_loss | 0.7300 |
| 9:126880919:GTAAA:G | donor_loss | 0.7300 |
| 9:126880920:T:A | donor_loss | 0.7300 |
| 9:126880921:A:T | donor_loss | 0.7300 |
| 9:126880713:G:T | donor_gain | 0.7200 |
| 9:126880967:A:AG | donor_gain | 0.7200 |
| 9:126880878:G:GT | donor_gain | 0.7000 |
| 9:126880922:A:G | donor_loss | 0.6900 |
| 9:126880968:T:G | donor_gain | 0.6800 |
| 9:126885572:A:AG | acceptor_gain | 0.6800 |
| 9:126885155:A:AG | acceptor_gain | 0.6700 |
| 9:126879597:GT:G | donor_gain | 0.6600 |
| 9:126879598:TT:T | donor_gain | 0.6600 |
| 9:126880814:A:G | donor_gain | 0.6600 |
| 9:126885156:GTA:G | acceptor_gain | 0.6600 |
| 9:126880894:GT:G | donor_gain | 0.6500 |
| 9:126880911:T:TG | donor_gain | 0.6400 |
| 9:126879598:T:TG | donor_gain | 0.6300 |
AlphaMissense
3359 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 9:126880531:T:C | C374R | 1.000 |
| 9:126880532:G:A | C374Y | 1.000 |
| 9:126880533:T:G | C374W | 1.000 |
| 9:126880540:T:C | C377R | 1.000 |
| 9:126880541:G:A | C377Y | 1.000 |
| 9:126880542:T:G | C377W | 1.000 |
| 9:126880552:T:C | F381L | 1.000 |
| 9:126880553:T:C | F381S | 1.000 |
| 9:126880554:C:A | F381L | 1.000 |
| 9:126880554:C:G | F381L | 1.000 |
| 9:126880571:T:C | L387P | 1.000 |
| 9:126880615:T:C | C402R | 1.000 |
| 9:126880617:C:G | C402W | 1.000 |
| 9:126880636:T:G | Y409D | 1.000 |
| 9:126880643:G:C | R411P | 1.000 |
| 9:126880655:T:C | L415P | 1.000 |
| 9:126880663:C:G | H418D | 1.000 |
| 9:126880665:C:A | H418Q | 1.000 |
| 9:126880665:C:G | H418Q | 1.000 |
| 9:126880699:T:C | C430R | 1.000 |
| 9:126880701:T:G | C430W | 1.000 |
| 9:126880708:T:C | C433R | 1.000 |
| 9:126880720:T:C | F437L | 1.000 |
| 9:126880721:T:C | F437S | 1.000 |
| 9:126880722:T:A | F437L | 1.000 |
| 9:126880722:T:G | F437L | 1.000 |
| 9:126880739:T:C | L443P | 1.000 |
| 9:126879476:T:C | L22P | 0.999 |
| 9:126880531:T:A | C374S | 0.999 |
| 9:126880532:G:C | C374S | 0.999 |
dbSNP variants (sampled 300 via entrez): RS1000000472 (9:126872590 ACCT>A), RS1000004702 (9:126878222 G>A,C), RS1000096914 (9:126872908 G>A), RS1000149392 (9:126872596 T>G), RS1000354866 (9:126866953 T>A,C), RS1000430756 (9:126860879 C>G,T), RS1000608731 (9:126876914 T>C), RS1000667830 (9:126883345 A>G), RS1000878281 (9:126866009 C>T), RS1000916319 (9:126877194 C>T), RS1000983779 (9:126885256 C>T), RS1000995282 (9:126885009 A>G), RS1001000277 (9:126871483 C>T), RS1001182218 (9:126866320 A>T), RS1001282992 (9:126872092 G>A)
Disease associations
OMIM: gene MIM:611692 | disease phenotypes:
GenCC curated gene-disease
Mondo (1): neurodevelopmental disorder (MONDO:0700092)
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
2 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST003476_10 | Eyebrow thickness | 3.000000e-06 |
| GCST010703_39 | Brain morphology (MOSTest) | 9.000000e-09 |
EFO canonical traits (1, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0004346 | neuroimaging measurement |
MeSH disease descriptors (1)
| Descriptor | Name | Tree numbers |
|---|---|---|
| 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
33 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| sodium arsenite | decreases stability, increases expression | 2 |
| Benzo(a)pyrene | increases expression, increases mutagenesis | 2 |
| Formaldehyde | decreases expression, increases expression | 2 |
| Tobacco Smoke Pollution | increases expression | 2 |
| Cyclosporine | increases expression | 2 |
| Aflatoxin B1 | affects expression, increases methylation | 2 |
| aristolochic acid I | decreases expression | 1 |
| 3-((6-(2-methoxyphenyl)pyrimidin-4-yl)amino)phenyl)methane sulfonamide | decreases expression | 1 |
| GSK-J4 | increases expression | 1 |
| FR900359 | increases phosphorylation | 1 |
| TAK-243 | increases sumoylation | 1 |
| triphenyl phosphate | affects expression | 1 |
| bisphenol A | decreases methylation | 1 |
| di-n-butylphosphoric acid | affects expression | 1 |
| CGP 52608 | increases reaction, affects binding | 1 |
| abrine | decreases expression | 1 |
| NSC 689534 | affects binding, increases expression | 1 |
| Resveratrol | affects cotreatment, increases expression | 1 |
| Decitabine | affects expression | 1 |
| Acetaminophen | increases expression | 1 |
| Air Pollutants | decreases expression, increases abundance | 1 |
| Cisplatin | affects expression | 1 |
| Copper | affects binding, increases expression | 1 |
| Doxorubicin | decreases expression | 1 |
| Ethyl Methanesulfonate | increases expression | 1 |
| Methyl Methanesulfonate | increases expression | 1 |
| Plant Extracts | increases expression, affects cotreatment | 1 |
| Testosterone | decreases expression | 1 |
| Tretinoin | increases expression | 1 |
| Urethane | increases expression | 1 |
Clinical trials (associated diseases)
202 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 |
| 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 |
| NCT03229928 | Not specified | COMPLETED | Clinical Testing of a Real-Time Behavior Measurement Tool: Measuring Outcomes for CHAnge |
| NCT03232489 | Not specified | UNKNOWN | Study for the Evaluation of the Feasibility of Applying Advanced MRI Scanning in Pediatric Clinical Practice |
Related Atlas pages
No linked Atlas pages yet — the cross-entity mesh grows as the corpus expands.