ZNF536

gene
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Also known as KIAA0390

Summary

ZNF536 (zinc finger protein 536, HGNC:29025) is a protein-coding gene on chromosome 19q12, encoding Zinc finger protein 536 (O15090). Transcriptional repressor that negatively regulates neuron differentiation by repressing retinoic acid-induced gene transcription.

The protein encoded by this gene is a highly conserved zinc finger protein. The encoded protein is most abundant in brain, where it negatively regulates neuronal differentiation.

Source: NCBI Gene 9745 — RefSeq curated summary.

At a glance

  • GWAS associations: 31
  • Clinical variants (ClinVar): 189 total
  • MANE Select transcript: NM_014717

Identifiers

Gene identifiers

FieldValue
HGNC IDHGNC:29025
Approved symbolZNF536
Namezinc finger protein 536
Location19q12
Locus typegene with protein product
StatusApproved
AliasesKIAA0390
Ensembl geneENSG00000198597
Ensembl biotypeprotein_coding
OMIM618037
Entrez9745

Gene structure

Transcript identifiers

Ensembl transcripts: 14 — 12 protein_coding, 2 protein_coding_CDS_not_defined

ENST00000355537, ENST00000585628, ENST00000590564, ENST00000591488, ENST00000592773, ENST00000706142, ENST00000706143, ENST00000706144, ENST00000706145, ENST00000706146, ENST00000706147, ENST00000706148, ENST00000706149, ENST00000706150

RefSeq mRNA: 4 — MANE Select: NM_014717 NM_001352260, NM_001376110, NM_001376111, NM_014717

CCDS: CCDS32984, CCDS92576, CCDS92577

Canonical transcript exons

ENST00000355537 — 5 exons

ExonStartEnd
ENSE000006945853053484730534999
ENSE000011241813054794330549514
ENSE000013518873055715730558059
ENSE000014202113037238430372556
ENSE000039948573044356130445732

Expression profiles

Bgee: expression breadth ubiquitous, 184 present calls, max score 97.98.

FANTOM5 (CAGE): breadth broad, TPM avg 3.6753 / max 379.9191, expressed in 393 samples.

FANTOM5 promoters (10 alternative TSS)

Promoter IDTPM avgSamples expressed
1750251.7095270
1750300.682572
1750220.6210292
1750260.244997
1750240.218681
2087690.064936
1750280.053436
1750290.031826
1750270.02599
1750230.022711

Top tissues by expression

248 total, by Bgee expression score (0-100, higher = more expressed):

TissueAnatomy IDExpression scoreQuality
buccal mucosa cellCL:000233697.98gold quality
pigmented layer of retinaUBERON:000178295.01gold quality
corpus callosumUBERON:000233693.69gold quality
inferior vagus X ganglionUBERON:000536393.67gold quality
cerebellar vermisUBERON:000472091.75gold quality
sural nerveUBERON:001548891.11gold quality
ponsUBERON:000098891.09gold quality
medulla oblongataUBERON:000189690.28gold quality
C1 segment of cervical spinal cordUBERON:000646989.99gold quality
Brodmann (1909) area 46UBERON:000648389.92gold quality
spinal cordUBERON:000224089.81gold quality
superior vestibular nucleusUBERON:000722789.65gold quality
endothelial cellCL:000011589.33gold quality
trigeminal ganglionUBERON:000167587.31gold quality
dorsal root ganglionUBERON:000004486.55gold quality
substantia nigra pars reticulataUBERON:000196686.46gold quality
lateral globus pallidusUBERON:000247686.39gold quality
subthalamic nucleusUBERON:000190686.29gold quality
ventral tegmental areaUBERON:000269185.88gold quality
midbrainUBERON:000189185.84gold quality
substantia nigraUBERON:000203885.53gold quality
cerebellumUBERON:000203785.47gold quality
globus pallidusUBERON:000187585.20gold quality
cerebellar cortexUBERON:000212984.75gold quality
cerebellar hemisphereUBERON:000224584.57gold quality
occipital lobeUBERON:000202184.38gold quality
substantia nigra pars compactaUBERON:000196584.21gold quality
medial globus pallidusUBERON:000247784.11gold quality
right hemisphere of cerebellumUBERON:001489084.02gold quality
Ammon’s hornUBERON:000195483.66gold quality

Single-cell (SCXA)

Detected in 3 experiment(s), a significant marker in 3.

ExperimentMarker?Max mean expression
E-GEOD-93593yes301.20
E-HCAD-35yes89.19
E-ANND-3yes4.23

Regulation

Is transcription factor: yes

JASPAR motifs

MotifNameFamily
MA2575.1ZNF536Factors with multiple dispersed zinc fingers

JASPAR matrix evidence (PMIDs): PMID:39605368

miRNA regulators (miRDB)

51 targeting ZNF536, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):

miRNAMax scoreAvg scoremiRNA target_count
HSA-MIR-8485100.0077.574731
HSA-MIR-5011-5P100.0083.465820
HSA-MIR-190A-3P100.0080.355520
HSA-MIR-1277-5P100.0073.955056
HSA-MIR-4510100.0066.602050
HSA-MIR-6127100.0066.762188
HSA-MIR-6129100.0066.462080
HSA-MIR-6130100.0066.692012
HSA-MIR-6133100.0066.482064
HSA-MIR-453199.9969.703181
HSA-MIR-511-3P99.9968.851467
HSA-MIR-4789-3P99.9970.752484
HSA-MIR-153-5P99.8973.866317
HSA-MIR-442099.8270.081624
HSA-MIR-181B-2-3P99.8170.061646
HSA-MIR-181B-3P99.8170.061646
HSA-MIR-4659A-3P99.8072.624248
HSA-MIR-4659B-3P99.8072.624248
HSA-MIR-3934-3P99.7665.511351
HSA-MIR-6885-3P99.7570.363187
HSA-MIR-197699.7465.481127
HSA-MIR-7844-5P99.5568.561428
HSA-MIR-7159-5P99.5372.122472
HSA-MIR-806499.4566.92875
HSA-MIR-942-5P99.4168.401977
HSA-MIR-16-2-3P99.2970.601954
HSA-MIR-195-3P99.2970.611954
HSA-MIR-892C-5P99.1670.562116
HSA-MIR-470599.1069.101091
HSA-MIR-427298.7668.741810

Literature-anchored findings (GeneRIF, showing 2)

  • ZFP536 promotes the late phase of oligodendrocyte differentiation. (PMID:17065439)
  • Characterization of zinc finger protein 536, a neuroendocrine regulator, using pan-cancer analysis. (PMID:38720348)

Cross-species orthologs

3 orthologs

OrganismSymbolGene ID
danio_rerioznf536ENSDARG00000103648
mus_musculusZfp536ENSMUSG00000043456
rattus_norvegicusZfp536ENSRNOG00000014163

Paralogs (14): HIVEP2 (ENSG00000010818), HIVEP1 (ENSG00000095951), SALL4 (ENSG00000101115), ZNF516 (ENSG00000101493), SALL1 (ENSG00000103449), BCL11A (ENSG00000119866), ZNF831 (ENSG00000124203), RREB1 (ENSG00000124782), HIVEP3 (ENSG00000127124), BCL11B (ENSG00000127152), ZNF219 (ENSG00000165804), SALL2 (ENSG00000165821), ZNF217 (ENSG00000171940), SALL3 (ENSG00000256463)

Protein

Protein identifiers

Zinc finger protein 536O15090 (reviewed: O15090)

All UniProt accessions (7): O15090, A0A994J5C6, A0A994J5Q4, A0A994J7Z0, K7EJP8, K7EKT4, K7EQN6

UniProt curated annotations — full annotation on UniProt →

Function. Transcriptional repressor that negatively regulates neuron differentiation by repressing retinoic acid-induced gene transcription. Binds and interrupts RARA from binding to retinoic acid response elements (RARE) composed of tandem 5’-AGGTCA-3’ sites known as DR1-DR5. Recognizes and binds 2 copies of the core DNA sequence 5’-CCCCCA-3'.

Subcellular location. Nucleus.

Similarity. Belongs to the krueppel C2H2-type zinc-finger protein family.

RefSeq proteins (4): NP_001339189, NP_001363039, NP_001363040, NP_055532* (*=MANE)

Domains & families (InterPro)

IDNameType
IPR013087Znf_C2H2_typeDomain
IPR036236Znf_C2H2_sfHomologous_superfamily
IPR051967Krueppel_C2H2-ZFFamily

Pfam: PF00096, PF13909, PF16606

UniProt features (30 total): compositionally biased region 10, zinc finger region 9, region of interest 8, modified residue 2, chain 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

ModelpLDDTFraction very-high
AF-O15090-F147.760.00

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 (2): 826, 827

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 85 (showing top): GCM_PTPRD, BROWNE_HCMV_INFECTION_24HR_UP, SCHAEFFER_PROSTATE_DEVELOPMENT_48HR_DN, SABATES_COLORECTAL_ADENOMA_DN, IVANOVA_HEMATOPOIESIS_EARLY_PROGENITOR, GCM_PTK2, KRIGE_RESPONSE_TO_TOSEDOSTAT_24HR_UP, GOMF_SEQUENCE_SPECIFIC_DNA_BINDING, LIU_PROSTATE_CANCER_DN, MEISSNER_BRAIN_HCP_WITH_H3K4ME3_AND_H3K27ME3, MEISSNER_NPC_HCP_WITH_H3K4ME2_AND_H3K27ME3, ATGAAGG_MIR205, MIKKELSEN_IPS_WITH_HCP_H3K27ME3, MIKKELSEN_NPC_HCP_WITH_H3K27ME3, GOBP_NEGATIVE_REGULATION_OF_TRANSCRIPTION_BY_RNA_POLYMERASE_II

GO Biological Process (4): negative regulation of transcription by RNA polymerase II (GO:0000122), regulation of DNA-templated transcription (GO:0006355), negative regulation of neuron differentiation (GO:0045665), negative regulation of retinoic acid receptor signaling pathway (GO:0048387)

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), retinoic acid-responsive element binding (GO:0044323), DNA binding (GO:0003677), metal ion binding (GO:0046872)

GO Cellular Component (1): nucleus (GO:0005634)

GO top-level categories

Rollup of top GO terms by namespace:

CategoryTerms
RNA polymerase II transcription regulatory region sequence-specific DNA binding3
regulation of transcription by RNA polymerase II2
transcription by RNA polymerase II1
negative regulation of DNA-templated transcription1
DNA-templated transcription1
regulation of gene expression1
regulation of RNA biosynthetic process1
neuron differentiation1
negative regulation of cell differentiation1
regulation of neuron differentiation1
retinoic acid receptor signaling pathway1
regulation of retinoic acid receptor signaling pathway1
negative regulation of intracellular signal transduction1
cis-regulatory region sequence-specific DNA binding1
chromatin1
DNA-binding transcription factor activity1
negative regulation of transcription by RNA polymerase II1
DNA-binding transcription factor activity, RNA polymerase II-specific1
DNA-binding transcription repressor activity1
transition metal ion binding1
RNA polymerase II cis-regulatory region sequence-specific DNA binding1
nucleic acid binding1
cation binding1
intracellular membrane-bounded organelle1

Protein interactions and networks

STRING

1248 interactions, top by confidence (×1000):

Protein AProtein BPartner UniProtScore
ZNF536ZNF687Q8N1G0526
ZNF536FAM181BA6NEQ2490
ZNF536ZNF592Q92610490
ZNF536NAV3Q8IVL0448
ZNF536CSMD1Q96PZ7419
ZNF536CC2D1AQ6P1N0418
ZNF536BBXQ8WY36412
ZNF536DISP3Q9P2K9400
ZNF536CSMD3Q7Z407398
ZNF536SERGEFQ9UGK8397
ZNF536XIRP2A4UGR9394
ZNF536ZNF804AQ7Z570389
ZNF536FBXO2Q9UK22385
ZNF536TSHZ3Q63HK5380
ZNF536TBC1D15Q8TC07377

IntAct

40 interactions, top by confidence:

ABTypeScore
EN1NFIBpsi-mi:“MI:2364”(proximity)0.470
ZNF536H1-1psi-mi:“MI:0915”(physical association)0.400
ZNF536H1-5psi-mi:“MI:0915”(physical association)0.400
FOXC2ZNF536psi-mi:“MI:0914”(association)0.350
FOXJ2TCERG1psi-mi:“MI:0914”(association)0.350
TEAD2DDX39Apsi-mi:“MI:0914”(association)0.350
SOX2CBX4psi-mi:“MI:0914”(association)0.350
DYRK1ATEX13Dpsi-mi:“MI:0914”(association)0.350
CALM2MYO1Cpsi-mi:“MI:0914”(association)0.350
CALM3PLEKHG3psi-mi:“MI:0914”(association)0.350
DBNLZNF536psi-mi:“MI:0914”(association)0.350
S100BPLEKHG3psi-mi:“MI:0914”(association)0.350
KLHL22TRAV18psi-mi:“MI:0914”(association)0.350
SLC1A3DDX11L8psi-mi:“MI:0914”(association)0.350
SLC22A11CNOT1psi-mi:“MI:0914”(association)0.350
SLC39A12ESYT2psi-mi:“MI:0914”(association)0.350
TBXTBCL9psi-mi:“MI:2364”(proximity)0.270
FOXI1BCL9psi-mi:“MI:2364”(proximity)0.270
FOXL1PGRMC1psi-mi:“MI:2364”(proximity)0.270
GATA2BCL9psi-mi:“MI:2364”(proximity)0.270
GATA3BCL9psi-mi:“MI:2364”(proximity)0.270
GCM1BCL9psi-mi:“MI:2364”(proximity)0.270
HNF1BBCL9psi-mi:“MI:2364”(proximity)0.270
KLF12psi-mi:“MI:2364”(proximity)0.270
KLF3MCRIP1psi-mi:“MI:2364”(proximity)0.270
LHX2SMCHD1psi-mi:“MI:2364”(proximity)0.270
LHX6BCL9psi-mi:“MI:2364”(proximity)0.270
MYBKMT2Dpsi-mi:“MI:2364”(proximity)0.270
MYCSETD1Apsi-mi:“MI:2364”(proximity)0.270
NFIXTAF4psi-mi:“MI:2364”(proximity)0.270

BioGRID (79): ZNF536 (Affinity Capture-MS), ZNF536 (Affinity Capture-MS), ZNF536 (Affinity Capture-MS), ZNF536 (Proximity Label-MS), ZNF536 (Proximity Label-MS), ZNF536 (Synthetic Lethality), HIST1H1A (Proximity Label-MS), HIST1H1B (Proximity Label-MS), ZNF536 (Proximity Label-MS), ZNF536 (Proximity Label-MS), ZNF536 (Affinity Capture-MS), ZNF536 (Affinity Capture-MS), ZNF536 (Proximity Label-MS), ZNF536 (Affinity Capture-RNA), ZNF536 (Proximity Label-MS)

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: A1L2U9, A2A884, A2ANX9, B0X0K1, B0X9H6, B0XS89, B1WAZ8, B1WBU4, E9PZZ1, E9Q6W4, G5EBU4, O15090, O60315, O62836, O73694, O75362, O77459, P08048, P10925, P15822, P17010, P17012, P20662, P26635, P28166, P28575, P28698, P31509, P31629, P36197, P52739, P53243, P60319, P78871, P80944, Q00453, Q00900, Q01800, Q02026, Q02027

SIGNOR signaling

0 interactions.

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 58 IntAct physical interaction partners (hypergeometric vs the genome-wide background, BH-FDR, gene-set size 15–500, ranked by fold). A functional readout of the neighbourhood — distinct from this gene’s own memberships above, and biased toward well-studied / hub proteins, so read it as themes rather than proof.

GO biological processes:

GO termPartnersFoldFDR
positive regulation of miRNA transcription737.0×1e-07
anatomical structure morphogenesis717.7×1e-05
transcription by RNA polymerase II911.5×8e-06

Disease & clinical

Clinical variants and AI predictions

ClinVar

189 variants total. Per-class counts are floors (≥ shown; pagination cap):

ClassificationCount (floor)
Pathogenic0
Likely pathogenic0
Uncertain significance161
Likely benign15
Benign6

Top pathogenic / likely-pathogenic (0)

SpliceAI

1965 predictions. Top by Δscore:

VariantEffectΔscore
19:30443555:TTTCA:Tacceptor_loss0.9900
19:30443556:TTCAG:Tacceptor_loss0.9900
19:30443557:TCAGG:Tacceptor_loss0.9900
19:30443558:CAG:Cacceptor_loss0.9900
19:30443559:A:AGacceptor_gain0.9900
19:30443559:A:Cacceptor_loss0.9900
19:30443559:AG:Aacceptor_gain0.9900
19:30443559:AGG:Aacceptor_gain0.9900
19:30443560:G:GGacceptor_gain0.9900
19:30443560:GG:Gacceptor_gain0.9900
19:30443560:GGG:Gacceptor_gain0.9900
19:30443560:GGGAT:Gacceptor_gain0.9900
19:30445733:G:GCdonor_loss0.9900
19:30445734:T:Gdonor_loss0.9900
19:30534845:A:AGacceptor_gain0.9900
19:30534846:G:GGacceptor_gain0.9900
19:30534846:GAC:Gacceptor_gain0.9900
19:30534997:CAGGT:Cdonor_loss0.9900
19:30534998:AG:Adonor_loss0.9900
19:30547927:T:Gacceptor_gain0.9900
19:30549510:GTGTG:Gdonor_gain0.9900
19:30549512:GTG:Gdonor_gain0.9900
19:30549513:TGGTA:Tdonor_loss0.9900
19:30549514:GGTAA:Gdonor_loss0.9900
19:30549515:G:Cdonor_loss0.9900
19:30549515:G:GGdonor_gain0.9900
19:30549516:T:Adonor_loss0.9900
19:30534839:C:CAacceptor_gain0.9800
19:30540865:G:Tdonor_gain0.9800
19:30547929:T:Gacceptor_gain0.9800

AlphaMissense

8607 scored. Top likely-pathogenic:

VariantProtein changeam_pathogenicity
19:30443950:T:GY130D1.000
19:30443951:A:GY130C1.000
19:30443956:T:AC132S1.000
19:30443956:T:CC132R1.000
19:30443956:T:GC132G1.000
19:30443957:G:AC132Y1.000
19:30443957:G:CC132S1.000
19:30443957:G:TC132F1.000
19:30443958:C:GC132W1.000
19:30443965:T:AC135S1.000
19:30443965:T:CC135R1.000
19:30443966:G:AC135Y1.000
19:30443966:G:CC135S1.000
19:30443966:G:TC135F1.000
19:30443967:C:GC135W1.000
19:30443971:A:GK137E1.000
19:30443973:G:CK137N1.000
19:30443973:G:TK137N1.000
19:30443977:T:AF139I1.000
19:30443977:T:CF139L1.000
19:30443977:T:GF139V1.000
19:30443978:T:CF139S1.000
19:30443978:T:GF139C1.000
19:30443979:C:AF139L1.000
19:30443979:C:GF139L1.000
19:30443983:T:AF141I1.000
19:30443983:T:CF141L1.000
19:30443983:T:GF141V1.000
19:30443984:T:CF141S1.000
19:30443984:T:GF141C1.000

dbSNP variants (sampled 300 via entrez): RS1000008250 (19:30360436 C>T), RS1000009871 (19:30599647 A>G), RS1000012866 (19:30513901 A>G), RS1000029316 (19:30388208 A>C), RS1000031214 (19:30283801 T>C), RS1000036404 (19:30401745 A>G), RS1000038288 (19:30345562 C>T), RS1000040267 (19:30367109 C>T), RS1000043298 (19:30660192 G>A), RS1000047886 (19:30243191 A>C,G), RS1000051553 (19:30460117 C>T), RS1000053261 (19:30520932 G>A), RS1000057016 (19:30624091 G>C,T), RS1000069158 (19:30594040 C>T), RS1000069241 (19:30672815 C>A,G)

Disease associations

OMIM: gene MIM:618037 | 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

31 associations (top):

StudyTraitp-value
GCST000083_17Select biomarker traits8.000000e-07
GCST001712_61Myopia (pathological)3.000000e-12
GCST001762_72Obesity-related traits5.000000e-06
GCST001998_3Adverse response to chemotherapy (neutropenia/leucopenia) (all platinum-based drugs)3.000000e-06
GCST002491_8Age-related hearing impairment7.000000e-06
GCST002539_90Schizophrenia4.000000e-09
GCST002783_107Body mass index2.000000e-06
GCST002783_192Body mass index1.000000e-06
GCST002783_347Body mass index8.000000e-07
GCST003206_1Myocardial infarction in hypertension (calcium channel blocker interaction)4.000000e-07
GCST003564_5Waist-to-hip ratio adjusted for body mass index1.000000e-06
GCST003989_17Chin dimples3.000000e-15
GCST004070_18Cerebrospinal P-tau181p levels9.000000e-06
GCST004904_203Body mass index8.000000e-10
GCST004946_98Schizophrenia5.000000e-09
GCST005356_3Severe malaria9.000000e-07
GCST005357_13Severe malaria (adjusted for sickle cell variant rs334)4.000000e-06
GCST006041_39Major depressive disorder2.000000e-06
GCST006266_1Remission after SSRI treatment in major depression1.000000e-06
GCST006803_57Schizophrenia2.000000e-10
GCST007201_262Schizophrenia5.000000e-09
GCST007201_318Schizophrenia2.000000e-08
GCST007325_102General risk tolerance (MTAG)2.000000e-10
GCST007576_166Chronotype4.000000e-09
GCST007576_41Chronotype2.000000e-08
GCST008554_8Atorvastatin-induced myopathy1.000000e-06
GCST010988_21Adult body size1.000000e-13
GCST010989_291Body size at age 109.000000e-10
GCST012049_1High density lipoprotein cholesterol levels4.000000e-07
GCST90012857_15Falling risk7.000000e-07

EFO canonical traits (12, from GWAS)

EFO IDTrait name
EFO:0004458C-reactive protein measurement
EFO:0004207pathological myopia
EFO:0004340body mass index
EFO:0007767response to calcium channel blocker
EFO:0007788BMI-adjusted waist-hip ratio
EFO:0004763p-tau measurement
EFO:0005658response to selective serotonin reuptake inhibitor
EFO:0008579risk-taking behaviour
EFO:0008328chronotype measurement
EFO:0009819comparative body size at age 10, self-reported
EFO:0004612high density lipoprotein cholesterol measurement
EFO:0007789BMI-adjusted waist circumference

MeSH disease descriptors (1)

DescriptorNameTree numbers
D065886Neurodevelopmental DisordersF03.625

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

PharmGKB: 1 entry (VIP=true, CPIC=false)

PharmGKB variants

1 variants.

VariantGenesLevelScore#Clin annotsDrugs
rs185430475ZNF5360.000

CTD chemical–gene interactions

10 total (human), top 10 by PubMed support.

ChemicalActions (top 5)PubMed papers
Benzo(a)pyreneaffects methylation, decreases methylation2
ethyl-p-hydroxybenzoatedecreases expression1
S-(1,2-dichlorovinyl)cysteineaffects response to substance, increases expression, affects cotreatment, decreases expression1
beta-methylcholineaffects expression1
CGP 52608affects binding, increases reaction1
Sunitinibdecreases expression1
Lipopolysaccharidesdecreases expression, affects response to substance, increases expression, affects cotreatment1
Tunicamycindecreases expression1
Valproic Acidincreases methylation1
Aflatoxin B1increases methylation1

Cellosaurus cell lines

2 cell lines: 2 cancer cell line

First 10 cell lines (id-ordered, not curated):

CellosaurusNameCategorySex
CVCL_E2PUHAP1 ZNF536 (-) 2Cancer cell lineMale
CVCL_XV33HAP1 ZNF536 (-) 1Cancer cell lineMale

Clinical trials (associated diseases)

202 trials via MONDO — disease-level, not drug-specific.

TrialPhaseStatusTitle
NCT04586348PHASE4UNKNOWNPrenatal Iodine Supplementation and Early Childhood Neurodevelopment
NCT04873115PHASE4UNKNOWNDouble-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,
NCT02559102PHASE3COMPLETEDDexmedetomidine Sedation Versus General Anaesthesia for Inguinal Hernia Surgery in Infants
NCT02757079PHASE3COMPLETEDStudy of the Efficacy and Safety of NPC-15 for Sleep Disorders of Children With Neurodevelopmental Disorders
NCT06915480PHASE3RECRUITINGReducing Missed Appointments
NCT07377032PHASE3RECRUITINGTAP-GRIN: Interventional Study on Patients With GRIN-related Neurodevelopmental Disorders
NCT02909959PHASE2COMPLETEDSulforaphane for the Treatment of Young Men With Autism Spectrum Disorder
NCT06081348PHASE2RECRUITINGSertraline vs. Placebo in the Treatment of Anxiety in Children and AdoLescents With NeurodevelopMental Disorders
NCT06352372PHASE2COMPLETEDSafety and Efficacy of tPBM for Epileptiform Activity in Autism
NCT00503191PHASE1COMPLETEDNeuroModulation Technique Treatment of Autism
NCT04475848PHASE1COMPLETEDA Study to Investigate the Safety, Tolerability, Pharmacokinetics, Pharmacodynamics and Food Effect of RO6953958 in Healthy Participants
NCT06300398PHASE1COMPLETEDIAMA-6 Oral Dose Study in Healthy Adults
NCT01783041PHASE2/PHASE3COMPLETEDEffect of Early L-Carnitine Supplementation on Neurodevelopmental Outcomes in Very Preterm Infants
NCT05767385PHASE2/PHASE3RECRUITINGFetal Cerebrovascular Autoregulation in Congenital Heart Disease and Association With Neonatal Neurobehavior
NCT05675098EARLY_PHASE1NOT_YET_RECRUITINGCentral Nervous System Stimulants and Physical Function in Children With Cerebral Palsy
NCT00783783Not specifiedCOMPLETEDCYP2D6 Pharmacogenetics in Risperidone-Treated Children
NCT01778504Not specifiedRECRUITINGStudying Childhood-onset Behavioral, Psychiatric, and Developmental Disorders
NCT01850784Not specifiedUNKNOWNHigh Energy Formula Feeding in Infants With Congenital Heart Disease
NCT01922791Not specifiedCOMPLETEDNutrition and Pregnancy Intervention Study
NCT01942525Not specifiedUNKNOWNInfluence of Intrauterine Growth Restriction on Amplitude-integrated EEG in Preterm Infants
NCT02003170Not specifiedCOMPLETEDEtiology and Early Diagnosis of Neurodevelopmental Disorders
NCT02118649Not specifiedACTIVE_NOT_RECRUITINGEnhancing Behavior and Brain Response to Visual Targets Using a Computer Game
NCT02557191Not specifiedTERMINATEDBiomarkers, Neurodevelopment and Preterm Infants
NCT02690675Not specifiedCOMPLETEDIron Supplement Effect on Child Development
NCT02694003Not specifiedCOMPLETEDBetter Nights, Better Days for Children With Neurodevelopment Disorders
NCT02792894Not specifiedCOMPLETEDFamily Networks (FaNs) for Children With Developmental Disorders and Delays
NCT02871674Not specifiedUNKNOWNGood Night Project: Behavioural Sleep Interventions for Children With ADHD: A Randomised Controlled Trial
NCT02887157Not specifiedCOMPLETEDAnalyzing Retinal Microanatomy in ROP
NCT02898298Not specifiedCOMPLETEDPositive Emotion Regulation Training in Children, Adolescents and Young Adults With and Without Developmental Disorder
NCT02912780Not specifiedUNKNOWNIntroduction of Microsystems in a Level 3 Neonatal Intensive Care Unit
NCT03023293Not specifiedCOMPLETEDn-3 PUFAs, Irisin and Maternal Glucose Metabolism From Pregnancy to Postpartum
NCT03023644Not specifiedCOMPLETEDImproving Neurodevelopmental Outcomes in Children With Congenital Heart Disease: An Intervention Study
NCT03032991Not specifiedUNKNOWNEarly Biomarkers of Neurodevelopment in Offspring of Diabetic Mothers
NCT03088189Not specifiedTERMINATEDEffect of Parental Peri-conceptional Vitamin B12 Supplementation on Infant Neurocognitive Development in Offspring
NCT03096028Not specifiedCOMPLETEDDevelopmental Origins of Mental Health Disorders
NCT03148782Not specifiedCOMPLETEDBrain Plasticity Underlying Acquisition of New Organizational Skills in Children-R61 Phase
NCT03172104Not specifiedCOMPLETEDNeurobehavioural Development of Infants Born <30 Weeks Gestational Age Between Birth and Five Years of Age
NCT03222375Not specifiedRECRUITINGSQUED™ Series 28.1 Home-use and Treatment of Autowave Reverberator of Autism
NCT03229928Not specifiedCOMPLETEDClinical Testing of a Real-Time Behavior Measurement Tool: Measuring Outcomes for CHAnge
NCT03232489Not specifiedUNKNOWNStudy for the Evaluation of the Feasibility of Applying Advanced MRI Scanning in Pediatric Clinical Practice
  • Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): myopathy, presbycusis