ZNF536
geneOn this page
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
| Field | Value |
|---|---|
| HGNC ID | HGNC:29025 |
| Approved symbol | ZNF536 |
| Name | zinc finger protein 536 |
| Location | 19q12 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | KIAA0390 |
| Ensembl gene | ENSG00000198597 |
| Ensembl biotype | protein_coding |
| OMIM | 618037 |
| Entrez | 9745 |
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
| Exon | Start | End |
|---|---|---|
| ENSE00000694585 | 30534847 | 30534999 |
| ENSE00001124181 | 30547943 | 30549514 |
| ENSE00001351887 | 30557157 | 30558059 |
| ENSE00001420211 | 30372384 | 30372556 |
| ENSE00003994857 | 30443561 | 30445732 |
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 ID | TPM avg | Samples expressed |
|---|---|---|
| 175025 | 1.7095 | 270 |
| 175030 | 0.6825 | 72 |
| 175022 | 0.6210 | 292 |
| 175026 | 0.2449 | 97 |
| 175024 | 0.2186 | 81 |
| 208769 | 0.0649 | 36 |
| 175028 | 0.0534 | 36 |
| 175029 | 0.0318 | 26 |
| 175027 | 0.0259 | 9 |
| 175023 | 0.0227 | 11 |
Top tissues by expression
248 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| buccal mucosa cell | CL:0002336 | 97.98 | gold quality |
| pigmented layer of retina | UBERON:0001782 | 95.01 | gold quality |
| corpus callosum | UBERON:0002336 | 93.69 | gold quality |
| inferior vagus X ganglion | UBERON:0005363 | 93.67 | gold quality |
| cerebellar vermis | UBERON:0004720 | 91.75 | gold quality |
| sural nerve | UBERON:0015488 | 91.11 | gold quality |
| pons | UBERON:0000988 | 91.09 | gold quality |
| medulla oblongata | UBERON:0001896 | 90.28 | gold quality |
| C1 segment of cervical spinal cord | UBERON:0006469 | 89.99 | gold quality |
| Brodmann (1909) area 46 | UBERON:0006483 | 89.92 | gold quality |
| spinal cord | UBERON:0002240 | 89.81 | gold quality |
| superior vestibular nucleus | UBERON:0007227 | 89.65 | gold quality |
| endothelial cell | CL:0000115 | 89.33 | gold quality |
| trigeminal ganglion | UBERON:0001675 | 87.31 | gold quality |
| dorsal root ganglion | UBERON:0000044 | 86.55 | gold quality |
| substantia nigra pars reticulata | UBERON:0001966 | 86.46 | gold quality |
| lateral globus pallidus | UBERON:0002476 | 86.39 | gold quality |
| subthalamic nucleus | UBERON:0001906 | 86.29 | gold quality |
| ventral tegmental area | UBERON:0002691 | 85.88 | gold quality |
| midbrain | UBERON:0001891 | 85.84 | gold quality |
| substantia nigra | UBERON:0002038 | 85.53 | gold quality |
| cerebellum | UBERON:0002037 | 85.47 | gold quality |
| globus pallidus | UBERON:0001875 | 85.20 | gold quality |
| cerebellar cortex | UBERON:0002129 | 84.75 | gold quality |
| cerebellar hemisphere | UBERON:0002245 | 84.57 | gold quality |
| occipital lobe | UBERON:0002021 | 84.38 | gold quality |
| substantia nigra pars compacta | UBERON:0001965 | 84.21 | gold quality |
| medial globus pallidus | UBERON:0002477 | 84.11 | gold quality |
| right hemisphere of cerebellum | UBERON:0014890 | 84.02 | gold quality |
| Ammon’s horn | UBERON:0001954 | 83.66 | gold quality |
Single-cell (SCXA)
Detected in 3 experiment(s), a significant marker in 3.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-GEOD-93593 | yes | 301.20 |
| E-HCAD-35 | yes | 89.19 |
| E-ANND-3 | yes | 4.23 |
Regulation
Is transcription factor: yes
JASPAR motifs
| Motif | Name | Family |
|---|---|---|
| MA2575.1 | ZNF536 | Factors 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):
| miRNA | Max score | Avg score | miRNA target_count |
|---|---|---|---|
| HSA-MIR-8485 | 100.00 | 77.57 | 4731 |
| HSA-MIR-5011-5P | 100.00 | 83.46 | 5820 |
| HSA-MIR-190A-3P | 100.00 | 80.35 | 5520 |
| HSA-MIR-1277-5P | 100.00 | 73.95 | 5056 |
| HSA-MIR-4510 | 100.00 | 66.60 | 2050 |
| HSA-MIR-6127 | 100.00 | 66.76 | 2188 |
| HSA-MIR-6129 | 100.00 | 66.46 | 2080 |
| HSA-MIR-6130 | 100.00 | 66.69 | 2012 |
| HSA-MIR-6133 | 100.00 | 66.48 | 2064 |
| HSA-MIR-4531 | 99.99 | 69.70 | 3181 |
| HSA-MIR-511-3P | 99.99 | 68.85 | 1467 |
| HSA-MIR-4789-3P | 99.99 | 70.75 | 2484 |
| HSA-MIR-153-5P | 99.89 | 73.86 | 6317 |
| HSA-MIR-4420 | 99.82 | 70.08 | 1624 |
| HSA-MIR-181B-2-3P | 99.81 | 70.06 | 1646 |
| HSA-MIR-181B-3P | 99.81 | 70.06 | 1646 |
| HSA-MIR-4659A-3P | 99.80 | 72.62 | 4248 |
| HSA-MIR-4659B-3P | 99.80 | 72.62 | 4248 |
| HSA-MIR-3934-3P | 99.76 | 65.51 | 1351 |
| HSA-MIR-6885-3P | 99.75 | 70.36 | 3187 |
| HSA-MIR-1976 | 99.74 | 65.48 | 1127 |
| HSA-MIR-7844-5P | 99.55 | 68.56 | 1428 |
| HSA-MIR-7159-5P | 99.53 | 72.12 | 2472 |
| HSA-MIR-8064 | 99.45 | 66.92 | 875 |
| HSA-MIR-942-5P | 99.41 | 68.40 | 1977 |
| HSA-MIR-16-2-3P | 99.29 | 70.60 | 1954 |
| HSA-MIR-195-3P | 99.29 | 70.61 | 1954 |
| HSA-MIR-892C-5P | 99.16 | 70.56 | 2116 |
| HSA-MIR-4705 | 99.10 | 69.10 | 1091 |
| HSA-MIR-4272 | 98.76 | 68.74 | 1810 |
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
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | znf536 | ENSDARG00000103648 |
| mus_musculus | Zfp536 | ENSMUSG00000043456 |
| rattus_norvegicus | Zfp536 | ENSRNOG00000014163 |
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 536 — O15090 (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)
| ID | Name | Type |
|---|---|---|
| IPR013087 | Znf_C2H2_type | Domain |
| IPR036236 | Znf_C2H2_sf | Homologous_superfamily |
| IPR051967 | Krueppel_C2H2-ZF | Family |
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)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-O15090-F1 | 47.76 | 0.00 |
Functional residue map
Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.
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:
| Category | Terms |
|---|---|
| RNA polymerase II transcription regulatory region sequence-specific DNA binding | 3 |
| regulation of transcription by RNA polymerase II | 2 |
| transcription by RNA polymerase II | 1 |
| negative regulation of DNA-templated transcription | 1 |
| DNA-templated transcription | 1 |
| regulation of gene expression | 1 |
| regulation of RNA biosynthetic process | 1 |
| neuron differentiation | 1 |
| negative regulation of cell differentiation | 1 |
| regulation of neuron differentiation | 1 |
| retinoic acid receptor signaling pathway | 1 |
| regulation of retinoic acid receptor signaling pathway | 1 |
| negative regulation of intracellular signal transduction | 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 |
| RNA polymerase II cis-regulatory region sequence-specific DNA binding | 1 |
| nucleic acid binding | 1 |
| cation binding | 1 |
| intracellular membrane-bounded organelle | 1 |
Protein interactions and networks
STRING
1248 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| ZNF536 | ZNF687 | Q8N1G0 | 526 |
| ZNF536 | FAM181B | A6NEQ2 | 490 |
| ZNF536 | ZNF592 | Q92610 | 490 |
| ZNF536 | NAV3 | Q8IVL0 | 448 |
| ZNF536 | CSMD1 | Q96PZ7 | 419 |
| ZNF536 | CC2D1A | Q6P1N0 | 418 |
| ZNF536 | BBX | Q8WY36 | 412 |
| ZNF536 | DISP3 | Q9P2K9 | 400 |
| ZNF536 | CSMD3 | Q7Z407 | 398 |
| ZNF536 | SERGEF | Q9UGK8 | 397 |
| ZNF536 | XIRP2 | A4UGR9 | 394 |
| ZNF536 | ZNF804A | Q7Z570 | 389 |
| ZNF536 | FBXO2 | Q9UK22 | 385 |
| ZNF536 | TSHZ3 | Q63HK5 | 380 |
| ZNF536 | TBC1D15 | Q8TC07 | 377 |
IntAct
40 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| EN1 | NFIB | psi-mi:“MI:2364”(proximity) | 0.470 |
| ZNF536 | H1-1 | psi-mi:“MI:0915”(physical association) | 0.400 |
| ZNF536 | H1-5 | psi-mi:“MI:0915”(physical association) | 0.400 |
| FOXC2 | ZNF536 | psi-mi:“MI:0914”(association) | 0.350 |
| FOXJ2 | TCERG1 | psi-mi:“MI:0914”(association) | 0.350 |
| TEAD2 | DDX39A | psi-mi:“MI:0914”(association) | 0.350 |
| SOX2 | CBX4 | psi-mi:“MI:0914”(association) | 0.350 |
| DYRK1A | TEX13D | psi-mi:“MI:0914”(association) | 0.350 |
| CALM2 | MYO1C | psi-mi:“MI:0914”(association) | 0.350 |
| CALM3 | PLEKHG3 | psi-mi:“MI:0914”(association) | 0.350 |
| DBNL | ZNF536 | psi-mi:“MI:0914”(association) | 0.350 |
| S100B | PLEKHG3 | psi-mi:“MI:0914”(association) | 0.350 |
| KLHL22 | TRAV18 | psi-mi:“MI:0914”(association) | 0.350 |
| SLC1A3 | DDX11L8 | psi-mi:“MI:0914”(association) | 0.350 |
| SLC22A11 | CNOT1 | psi-mi:“MI:0914”(association) | 0.350 |
| SLC39A12 | ESYT2 | psi-mi:“MI:0914”(association) | 0.350 |
| TBXT | BCL9 | psi-mi:“MI:2364”(proximity) | 0.270 |
| FOXI1 | BCL9 | psi-mi:“MI:2364”(proximity) | 0.270 |
| FOXL1 | PGRMC1 | psi-mi:“MI:2364”(proximity) | 0.270 |
| GATA2 | BCL9 | psi-mi:“MI:2364”(proximity) | 0.270 |
| GATA3 | BCL9 | psi-mi:“MI:2364”(proximity) | 0.270 |
| GCM1 | BCL9 | psi-mi:“MI:2364”(proximity) | 0.270 |
| HNF1B | BCL9 | psi-mi:“MI:2364”(proximity) | 0.270 |
| KLF12 | psi-mi:“MI:2364”(proximity) | 0.270 | |
| KLF3 | MCRIP1 | psi-mi:“MI:2364”(proximity) | 0.270 |
| LHX2 | SMCHD1 | psi-mi:“MI:2364”(proximity) | 0.270 |
| LHX6 | BCL9 | psi-mi:“MI:2364”(proximity) | 0.270 |
| MYB | KMT2D | psi-mi:“MI:2364”(proximity) | 0.270 |
| MYC | SETD1A | psi-mi:“MI:2364”(proximity) | 0.270 |
| NFIX | TAF4 | psi-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 term | Partners | Fold | FDR |
|---|---|---|---|
| positive regulation of miRNA transcription | 7 | 37.0× | 1e-07 |
| anatomical structure morphogenesis | 7 | 17.7× | 1e-05 |
| transcription by RNA polymerase II | 9 | 11.5× | 8e-06 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
189 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 161 |
| Likely benign | 15 |
| Benign | 6 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
1965 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 19:30443555:TTTCA:T | acceptor_loss | 0.9900 |
| 19:30443556:TTCAG:T | acceptor_loss | 0.9900 |
| 19:30443557:TCAGG:T | acceptor_loss | 0.9900 |
| 19:30443558:CAG:C | acceptor_loss | 0.9900 |
| 19:30443559:A:AG | acceptor_gain | 0.9900 |
| 19:30443559:A:C | acceptor_loss | 0.9900 |
| 19:30443559:AG:A | acceptor_gain | 0.9900 |
| 19:30443559:AGG:A | acceptor_gain | 0.9900 |
| 19:30443560:G:GG | acceptor_gain | 0.9900 |
| 19:30443560:GG:G | acceptor_gain | 0.9900 |
| 19:30443560:GGG:G | acceptor_gain | 0.9900 |
| 19:30443560:GGGAT:G | acceptor_gain | 0.9900 |
| 19:30445733:G:GC | donor_loss | 0.9900 |
| 19:30445734:T:G | donor_loss | 0.9900 |
| 19:30534845:A:AG | acceptor_gain | 0.9900 |
| 19:30534846:G:GG | acceptor_gain | 0.9900 |
| 19:30534846:GAC:G | acceptor_gain | 0.9900 |
| 19:30534997:CAGGT:C | donor_loss | 0.9900 |
| 19:30534998:AG:A | donor_loss | 0.9900 |
| 19:30547927:T:G | acceptor_gain | 0.9900 |
| 19:30549510:GTGTG:G | donor_gain | 0.9900 |
| 19:30549512:GTG:G | donor_gain | 0.9900 |
| 19:30549513:TGGTA:T | donor_loss | 0.9900 |
| 19:30549514:GGTAA:G | donor_loss | 0.9900 |
| 19:30549515:G:C | donor_loss | 0.9900 |
| 19:30549515:G:GG | donor_gain | 0.9900 |
| 19:30549516:T:A | donor_loss | 0.9900 |
| 19:30534839:C:CA | acceptor_gain | 0.9800 |
| 19:30540865:G:T | donor_gain | 0.9800 |
| 19:30547929:T:G | acceptor_gain | 0.9800 |
AlphaMissense
8607 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 19:30443950:T:G | Y130D | 1.000 |
| 19:30443951:A:G | Y130C | 1.000 |
| 19:30443956:T:A | C132S | 1.000 |
| 19:30443956:T:C | C132R | 1.000 |
| 19:30443956:T:G | C132G | 1.000 |
| 19:30443957:G:A | C132Y | 1.000 |
| 19:30443957:G:C | C132S | 1.000 |
| 19:30443957:G:T | C132F | 1.000 |
| 19:30443958:C:G | C132W | 1.000 |
| 19:30443965:T:A | C135S | 1.000 |
| 19:30443965:T:C | C135R | 1.000 |
| 19:30443966:G:A | C135Y | 1.000 |
| 19:30443966:G:C | C135S | 1.000 |
| 19:30443966:G:T | C135F | 1.000 |
| 19:30443967:C:G | C135W | 1.000 |
| 19:30443971:A:G | K137E | 1.000 |
| 19:30443973:G:C | K137N | 1.000 |
| 19:30443973:G:T | K137N | 1.000 |
| 19:30443977:T:A | F139I | 1.000 |
| 19:30443977:T:C | F139L | 1.000 |
| 19:30443977:T:G | F139V | 1.000 |
| 19:30443978:T:C | F139S | 1.000 |
| 19:30443978:T:G | F139C | 1.000 |
| 19:30443979:C:A | F139L | 1.000 |
| 19:30443979:C:G | F139L | 1.000 |
| 19:30443983:T:A | F141I | 1.000 |
| 19:30443983:T:C | F141L | 1.000 |
| 19:30443983:T:G | F141V | 1.000 |
| 19:30443984:T:C | F141S | 1.000 |
| 19:30443984:T:G | F141C | 1.000 |
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):
| Study | Trait | p-value |
|---|---|---|
| GCST000083_17 | Select biomarker traits | 8.000000e-07 |
| GCST001712_61 | Myopia (pathological) | 3.000000e-12 |
| GCST001762_72 | Obesity-related traits | 5.000000e-06 |
| GCST001998_3 | Adverse response to chemotherapy (neutropenia/leucopenia) (all platinum-based drugs) | 3.000000e-06 |
| GCST002491_8 | Age-related hearing impairment | 7.000000e-06 |
| GCST002539_90 | Schizophrenia | 4.000000e-09 |
| GCST002783_107 | Body mass index | 2.000000e-06 |
| GCST002783_192 | Body mass index | 1.000000e-06 |
| GCST002783_347 | Body mass index | 8.000000e-07 |
| GCST003206_1 | Myocardial infarction in hypertension (calcium channel blocker interaction) | 4.000000e-07 |
| GCST003564_5 | Waist-to-hip ratio adjusted for body mass index | 1.000000e-06 |
| GCST003989_17 | Chin dimples | 3.000000e-15 |
| GCST004070_18 | Cerebrospinal P-tau181p levels | 9.000000e-06 |
| GCST004904_203 | Body mass index | 8.000000e-10 |
| GCST004946_98 | Schizophrenia | 5.000000e-09 |
| GCST005356_3 | Severe malaria | 9.000000e-07 |
| GCST005357_13 | Severe malaria (adjusted for sickle cell variant rs334) | 4.000000e-06 |
| GCST006041_39 | Major depressive disorder | 2.000000e-06 |
| GCST006266_1 | Remission after SSRI treatment in major depression | 1.000000e-06 |
| GCST006803_57 | Schizophrenia | 2.000000e-10 |
| GCST007201_262 | Schizophrenia | 5.000000e-09 |
| GCST007201_318 | Schizophrenia | 2.000000e-08 |
| GCST007325_102 | General risk tolerance (MTAG) | 2.000000e-10 |
| GCST007576_166 | Chronotype | 4.000000e-09 |
| GCST007576_41 | Chronotype | 2.000000e-08 |
| GCST008554_8 | Atorvastatin-induced myopathy | 1.000000e-06 |
| GCST010988_21 | Adult body size | 1.000000e-13 |
| GCST010989_291 | Body size at age 10 | 9.000000e-10 |
| GCST012049_1 | High density lipoprotein cholesterol levels | 4.000000e-07 |
| GCST90012857_15 | Falling risk | 7.000000e-07 |
EFO canonical traits (12, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0004458 | C-reactive protein measurement |
| EFO:0004207 | pathological myopia |
| EFO:0004340 | body mass index |
| EFO:0007767 | response to calcium channel blocker |
| EFO:0007788 | BMI-adjusted waist-hip ratio |
| EFO:0004763 | p-tau measurement |
| EFO:0005658 | response to selective serotonin reuptake inhibitor |
| EFO:0008579 | risk-taking behaviour |
| EFO:0008328 | chronotype measurement |
| EFO:0009819 | comparative body size at age 10, self-reported |
| EFO:0004612 | high density lipoprotein cholesterol measurement |
| EFO:0007789 | BMI-adjusted waist circumference |
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)
PharmGKB variants
1 variants.
| Variant | Genes | Level | Score | #Clin annots | Drugs |
|---|---|---|---|---|---|
| rs185430475 | ZNF536 | 0.00 | 0 |
CTD chemical–gene interactions
10 total (human), top 10 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Benzo(a)pyrene | affects methylation, decreases methylation | 2 |
| ethyl-p-hydroxybenzoate | decreases expression | 1 |
| S-(1,2-dichlorovinyl)cysteine | affects response to substance, increases expression, affects cotreatment, decreases expression | 1 |
| beta-methylcholine | affects expression | 1 |
| CGP 52608 | affects binding, increases reaction | 1 |
| Sunitinib | decreases expression | 1 |
| Lipopolysaccharides | decreases expression, affects response to substance, increases expression, affects cotreatment | 1 |
| Tunicamycin | decreases expression | 1 |
| Valproic Acid | increases methylation | 1 |
| Aflatoxin B1 | increases methylation | 1 |
Cellosaurus cell lines
2 cell lines: 2 cancer cell line
First 10 cell lines (id-ordered, not curated):
| Cellosaurus | Name | Category | Sex |
|---|---|---|---|
| CVCL_E2PU | HAP1 ZNF536 (-) 2 | Cancer cell line | Male |
| CVCL_XV33 | HAP1 ZNF536 (-) 1 | Cancer cell line | Male |
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
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): myopathy, presbycusis