ZNF23
gene geneOn this page
Also known as KOX16Zfp612ZNF612
Summary
ZNF23 (zinc finger protein 23, HGNC:13023) is a protein-coding gene on chromosome 16q22.2, encoding Zinc finger protein 23 (P17027). May be involved in transcriptional regulation.
Enables sequence-specific double-stranded DNA binding activity. Predicted to be involved in regulation of transcription by RNA polymerase II. Predicted to be active in nucleus.
Source: NCBI Gene 7571 — RefSeq curated summary.
At a glance
- Gene–disease (curated): Tourette syndrome (No Known Disease Relationship, GenCC)
- GWAS associations: 2
- Clinical variants (ClinVar): 104 total
- MANE Select transcript:
NM_001381984
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:13023 |
| Approved symbol | ZNF23 |
| Name | zinc finger protein 23 |
| Location | 16q22.2 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | KOX16, Zfp612, ZNF612 |
| Ensembl gene | ENSG00000167377 |
| Ensembl biotype | protein_coding |
| OMIM | 194527 |
| Entrez | 7571 |
Gene structure
Transcript identifiers
Ensembl transcripts: 15 — 12 protein_coding, 2 protein_coding_CDS_not_defined, 1 retained_intron
ENST00000357254, ENST00000358700, ENST00000393539, ENST00000497160, ENST00000539742, ENST00000564528, ENST00000564588, ENST00000565718, ENST00000567340, ENST00000576258, ENST00000647773, ENST00000879622, ENST00000913285, ENST00000949091, ENST00000949092
RefSeq mRNA: 22 — MANE Select: NM_001381984
NM_001304492, NM_001304493, NM_001304494, NM_001381965, NM_001381966, NM_001381967, NM_001381968, NM_001381969, NM_001381970, NM_001381971, NM_001381972, NM_001381973, NM_001381974, NM_001381975, NM_001381976, NM_001381977, NM_001381978, NM_001381979, NM_001381980, NM_001381981, NM_001381984, NM_145911
CCDS: CCDS10900, CCDS76895, CCDS92194
Canonical transcript exons
ENST00000647773 — 5 exons
| Exon | Start | End |
|---|---|---|
| ENSE00002603890 | 71456764 | 71456828 |
| ENSE00003765796 | 71453243 | 71453350 |
| ENSE00003832527 | 71454042 | 71454168 |
| ENSE00003839164 | 71447597 | 71449885 |
| ENSE00003938437 | 71462210 | 71462247 |
Expression profiles
Bgee: expression breadth ubiquitous, 134 present calls, max score 90.71.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 3.7261 / max 54.9518, expressed in 1553 samples.
FANTOM5 promoters (1 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 158005 | 3.7261 | 1553 |
Top tissues by expression
134 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| cortical plate | UBERON:0005343 | 90.71 | gold quality |
| primordial germ cell in gonad | CL:0000670 ∩ UBERON:0000991 | 88.45 | gold quality |
| pituitary gland | UBERON:0000007 | 86.51 | gold quality |
| adenohypophysis | UBERON:0002196 | 86.33 | gold quality |
| right uterine tube | UBERON:0001302 | 85.86 | gold quality |
| ganglionic eminence | UBERON:0004023 | 85.69 | gold quality |
| cerebellar hemisphere | UBERON:0002245 | 85.45 | gold quality |
| cerebellar cortex | UBERON:0002129 | 85.42 | gold quality |
| sural nerve | UBERON:0015488 | 85.37 | gold quality |
| cerebellum | UBERON:0002037 | 85.31 | gold quality |
| male germ line stem cell (sensu Vertebrata) in testis | CL:0000089 ∩ UBERON:0000473 | 84.64 | gold quality |
| right hemisphere of cerebellum | UBERON:0014890 | 84.53 | gold quality |
| hypothalamus | UBERON:0001898 | 84.11 | gold quality |
| Ammon’s horn | UBERON:0001954 | 83.86 | gold quality |
| amygdala | UBERON:0001876 | 83.65 | gold quality |
| brain | UBERON:0000955 | 83.60 | gold quality |
| temporal lobe | UBERON:0001871 | 83.57 | gold quality |
| nucleus accumbens | UBERON:0001882 | 83.33 | gold quality |
| caudate nucleus | UBERON:0001873 | 83.04 | gold quality |
| cerebral cortex | UBERON:0000956 | 83.02 | gold quality |
| primary visual cortex | UBERON:0002436 | 83.01 | gold quality |
| right frontal lobe | UBERON:0002810 | 82.97 | gold quality |
| dorsolateral prefrontal cortex | UBERON:0009834 | 82.96 | gold quality |
| anterior cingulate cortex | UBERON:0009835 | 82.87 | gold quality |
| superior frontal gyrus | UBERON:0002661 | 82.84 | gold quality |
| putamen | UBERON:0001874 | 82.81 | gold quality |
| C1 segment of cervical spinal cord | UBERON:0006469 | 82.74 | gold quality |
| frontal cortex | UBERON:0001870 | 82.73 | gold quality |
| Brodmann (1909) area 9 | UBERON:0013540 | 82.71 | gold quality |
| stromal cell of endometrium | CL:0002255 | 82.69 | gold quality |
Single-cell (SCXA)
Detected in 2 experiment(s), a significant marker in 0.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ENAD-17 | no | 571.60 |
| E-ANND-3 | no | 3.42 |
Regulation
Is transcription factor: no
Upstream regulators (CollecTRI, top): STAT1
miRNA regulators (miRDB)
37 targeting ZNF23, 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-7110-3P | 100.00 | 73.18 | 2486 |
| HSA-MIR-6873-3P | 100.00 | 71.42 | 2626 |
| HSA-MIR-548AJ-3P | 99.96 | 73.38 | 5345 |
| HSA-MIR-548X-3P | 99.96 | 73.38 | 5345 |
| HSA-MIR-335-3P | 99.93 | 73.36 | 4958 |
| HSA-MIR-6508-5P | 99.92 | 70.67 | 2465 |
| HSA-MIR-7-1-3P | 99.91 | 71.53 | 4384 |
| HSA-MIR-7-2-3P | 99.91 | 71.40 | 4394 |
| HSA-MIR-6809-3P | 99.91 | 71.45 | 3814 |
| HSA-MIR-1305 | 99.91 | 71.43 | 3443 |
| HSA-MIR-627-3P | 99.90 | 71.42 | 3316 |
| HSA-MIR-4753-3P | 99.90 | 71.03 | 3786 |
| HSA-MIR-8067 | 99.86 | 69.59 | 2260 |
| HSA-MIR-5003-3P | 99.85 | 69.29 | 2517 |
| HSA-MIR-6817-3P | 99.79 | 68.35 | 2126 |
| HSA-MIR-452-5P | 99.65 | 69.63 | 1762 |
| HSA-MIR-4676-3P | 99.65 | 69.31 | 1733 |
| HSA-MIR-892C-3P | 99.65 | 69.38 | 1745 |
| HSA-MIR-4502 | 99.65 | 66.99 | 1021 |
| HSA-MIR-3682-3P | 99.58 | 67.63 | 865 |
| HSA-MIR-136-5P | 99.50 | 67.26 | 1153 |
| HSA-MIR-548G-3P | 99.48 | 68.67 | 2159 |
| HSA-MIR-150-3P | 99.43 | 70.51 | 920 |
| HSA-MIR-548AV-3P | 99.43 | 68.50 | 1721 |
| HSA-MIR-513A-3P | 99.39 | 70.63 | 3620 |
| HSA-MIR-513C-3P | 99.39 | 70.63 | 3620 |
| HSA-MIR-4528 | 99.18 | 69.77 | 1936 |
| HSA-MIR-4451 | 98.82 | 68.17 | 1455 |
| HSA-MIR-6755-3P | 98.61 | 66.90 | 834 |
| HSA-MIR-640 | 98.44 | 66.93 | 644 |
Literature-anchored findings (GeneRIF, showing 7)
- Characterization of ZNF359 and its role in human development (PMID:12127974)
- ZNF23 is a new member of KRAB-ZNF superfamily with growth-inhibitory ability and its downregulation may contribute to carcinogenesis (PMID:17137575)
- ZNF23 induced apoptosis partially via down-regulation of Bcl-XL. (PMID:18384939)
- ZNF23 gene could play an important role in the development of hepatocellular carcinoma. (PMID:21965783)
- Ectopic expression of ZNF23 induced cell apoptosis by activation of caspase-3, p27, p53 expression and down-regulation of Bcl-2 through mitochondria-dependent pathway. (PMID:28848158)
- Nucleolar small molecule RNA SNORA75 promotes endometrial receptivity by regulating the function of miR-146a-3p and ZNF23. (PMID:34030136)
- Silencing of miR-1246 Induces Cell Cycle Arrest and Apoptosis in Cisplatin-Resistant Ovarian Cancer Cells by Promoting ZNF23 Transcription. (PMID:34923485)
Cross-species orthologs
2 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| mus_musculus | Zfp612 | ENSMUSG00000044676 |
| rattus_norvegicus | Zfp612 | ENSRNOG00000016971 |
Paralogs (176): ZNF195 (ENSG00000005801), ZNF112 (ENSG00000062370), ZNF275 (ENSG00000063587), ZNF37A (ENSG00000075407), ZNF510 (ENSG00000081386), ZNF506 (ENSG00000081665), ZNF268 (ENSG00000090612), MZF1 (ENSG00000099326), ZNF629 (ENSG00000102870), ZNF175 (ENSG00000105497), ZNF85 (ENSG00000105750), ZFP30 (ENSG00000120784), ZNF45 (ENSG00000124459), ZNF391 (ENSG00000124613), ZNF436 (ENSG00000125945), ZNF484 (ENSG00000127081), ZNF835 (ENSG00000127903), ZNF780B (ENSG00000128000), ZSCAN10 (ENSG00000130182), ZNF317 (ENSG00000130803), ZNF331 (ENSG00000130844), ZNF227 (ENSG00000131115), ZNF141 (ENSG00000131127), ZNF132 (ENSG00000131849), ZNF189 (ENSG00000136870), ZIM3 (ENSG00000141946), ZFP14 (ENSG00000142065), ZNF514 (ENSG00000144026), ZNF300 (ENSG00000145908), RBAK (ENSG00000146587), ZNF157 (ENSG00000147117), ZNF182 (ENSG00000147118), ZNF41 (ENSG00000147124), ZNF7 (ENSG00000147789), ZNF117 (ENSG00000152926), ZNF221 (ENSG00000159905), ZNF235 (ENSG00000159917), ZNF714 (ENSG00000160352), ZNF577 (ENSG00000161551), ZNF12 (ENSG00000164631)
Protein
Protein identifiers
Zinc finger protein 23 — P17027 (reviewed: P17027)
Alternative names: Zinc finger protein 359, Zinc finger protein 612, Zinc finger protein KOX16
All UniProt accessions (6): A0A3B3ITE4, P17027, H0Y310, H3BMC6, H3BPE6, H3BSF8
UniProt curated annotations — full annotation on UniProt →
Function. May be involved in transcriptional regulation. May have a role in embryonic development.
Subcellular location. Nucleus.
Similarity. Belongs to the krueppel C2H2-type zinc-finger protein family.
Isoforms (2)
| UniProt ID | Names | Canonical? |
|---|---|---|
| P17027-1 | 1 | yes |
| P17027-2 | 2 |
RefSeq proteins (22): NP_001291421, NP_001291422, NP_001291423, NP_001368894, NP_001368895, NP_001368896, NP_001368897, NP_001368898, NP_001368899, NP_001368900, NP_001368901, NP_001368902, NP_001368903, NP_001368904, NP_001368905, NP_001368906, NP_001368907, NP_001368908, NP_001368909, NP_001368910, NP_001368913, NP_666016 (=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR001909 | KRAB | Domain |
| IPR013087 | Znf_C2H2_type | Domain |
| IPR036236 | Znf_C2H2_sf | Homologous_superfamily |
| IPR050826 | Krueppel_C2H2_ZnFinger | Family |
Pfam: PF00096
UniProt features (23 total): zinc finger region 17, chain 1, domain 1, cross-link 1, splice variant 1, sequence variant 1, sequence conflict 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-P17027-F1 | 72.27 | 0.31 |
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 (1): 157
Function
Pathways and Gene Ontology
Reactome pathways
1 pathways
| ID | Pathway |
|---|---|
| R-HSA-212436 | Generic Transcription Pathway |
MSigDB gene sets: 109 (showing top):
YAGI_AML_WITH_INV_16_TRANSLOCATION, chr16q22, BACH2_01, P300_01, NRF2_01, HAN_SATB1_TARGETS_DN, NERF_Q2, AP1FJ_Q2, CHEN_HOXA5_TARGETS_9HR_UP, SCGGAAGY_ELK1_02, MGGAAGTG_GABP_B, MATSUDA_NATURAL_KILLER_DIFFERENTIATION, GOMF_SEQUENCE_SPECIFIC_DNA_BINDING, ELK1_02, WONG_ADULT_TISSUE_STEM_MODULE
GO Biological Process (2): regulation of transcription by RNA polymerase II (GO:0006357), regulation of DNA-templated transcription (GO:0006355)
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), zinc ion binding (GO:0008270), sequence-specific double-stranded DNA binding (GO:1990837), DNA binding (GO:0003677), protein binding (GO:0005515), metal ion binding (GO:0046872)
GO Cellular Component (1): nucleus (GO:0005634)
Reactome top-level categories
Rollup of top-1 pathways:
| Category | Pathways |
|---|---|
| RNA Polymerase II Transcription | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| RNA polymerase II transcription regulatory region sequence-specific DNA binding | 2 |
| regulation of DNA-templated transcription | 1 |
| transcription by RNA polymerase II | 1 |
| DNA-templated transcription | 1 |
| regulation of gene expression | 1 |
| regulation of RNA biosynthetic process | 1 |
| cis-regulatory region sequence-specific DNA binding | 1 |
| chromatin | 1 |
| DNA-binding transcription factor activity | 1 |
| regulation of transcription by RNA polymerase II | 1 |
| transition metal ion binding | 1 |
| double-stranded DNA binding | 1 |
| sequence-specific DNA binding | 1 |
| nucleic acid binding | 1 |
| binding | 1 |
| cation binding | 1 |
| intracellular membrane-bounded organelle | 1 |
Protein interactions and networks
STRING
448 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| ZNF23 | NOX4 | Q9NPH5 | 777 |
| ZNF23 | ACBD6 | Q9BR61 | 673 |
| ZNF23 | ASCL3 | Q9NQ33 | 475 |
| ZNF23 | RASGEF1C | Q8N431 | 424 |
| ZNF23 | COMTD1 | Q86VU5 | 409 |
| ZNF23 | ANKRD7 | Q92527 | 367 |
| ZNF23 | PHYHIPL | Q96FC7 | 362 |
| ZNF23 | ZSWIM3 | Q96MP5 | 350 |
| ZNF23 | CEACAM20 | Q6UY09 | 349 |
| ZNF23 | TMBIM4 | Q9HC24 | 348 |
| ZNF23 | COMMD5 | Q9GZQ3 | 341 |
| ZNF23 | CARMIL3 | Q8ND23 | 339 |
| ZNF23 | RPS7 | P23821 | 335 |
| ZNF23 | CIRSR | Q86X95 | 333 |
| ZNF23 | FRA10AC1 | Q70Z53 | 323 |
IntAct
65 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| SPRY1 | ZNF23 | psi-mi:“MI:0915”(physical association) | 0.600 |
| ZNF23 | SPRY1 | psi-mi:“MI:0915”(physical association) | 0.600 |
| ZNF23 | psi-mi:“MI:0915”(physical association) | 0.560 | |
| ZNF23 | psi-mi:“MI:0915”(physical association) | 0.560 | |
| ZNF23 | MCRS1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| ZNF23 | GMCL1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| ZNF23 | TRAF1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| ZNF23 | MOBP | psi-mi:“MI:0915”(physical association) | 0.560 |
| ZNF23 | FHL2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| ZNF23 | MDFI | psi-mi:“MI:0915”(physical association) | 0.560 |
| ZNF330 | ZNF23 | psi-mi:“MI:0915”(physical association) | 0.560 |
| ZNF23 | KRTAP10-8 | psi-mi:“MI:0915”(physical association) | 0.560 |
| ZNF23 | MEOX2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| ZNF23 | FHL5 | psi-mi:“MI:0915”(physical association) | 0.560 |
| ZNF23 | TSGA10 | psi-mi:“MI:0915”(physical association) | 0.560 |
| ZNF23 | ELOA2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| ZNF23 | NME7 | psi-mi:“MI:0915”(physical association) | 0.560 |
| ZNF23 | ZNF330 | psi-mi:“MI:0915”(physical association) | 0.560 |
BioGRID (28): KRTAP10-3 (Two-hybrid), ZNF23 (Affinity Capture-RNA), ZNF23 (Two-hybrid), GTF2IRD1 (Affinity Capture-MS), TWISTNB (Affinity Capture-MS), HDGFRP3 (Affinity Capture-MS), ARID2 (Affinity Capture-MS), ZNF23 (Two-hybrid), ZNF23 (Two-hybrid), ZNF23 (Two-hybrid), ZNF23 (Two-hybrid), ZNF23 (Two-hybrid), ZNF23 (Two-hybrid), ZNF23 (Two-hybrid), ZNF23 (Two-hybrid)
ESM2 similar proteins: A2VDQ7, A6NNF4, A8MQ14, A8MTY0, E9QAG8, O75290, O75373, P08043, P0CJ79, P10751, P17017, P17027, P17039, P35789, P51522, P51523, Q08AN1, Q14585, Q14587, Q3SYV7, Q3ZCX4, Q4R4C7, Q52M93, Q5MCW4, Q5R5U3, Q5R8X1, Q5R9F0, Q5SXM1, Q6ECI4, Q6JLC9, Q6P3V2, Q6P5C7, Q6ZN57, Q86UE3, Q86XN6, Q86YE8, Q8C827, Q8IYB9, Q8N4W9, Q8N7M2
Diamond homologs: P17023, P17027, Q5R7I8, Q9BRH9
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
104 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 73 |
| Likely benign | 3 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
1576 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 16:71449881:ATCTA:A | acceptor_gain | 1.0000 |
| 16:71449883:CTA:C | acceptor_gain | 1.0000 |
| 16:71449884:TA:T | acceptor_gain | 1.0000 |
| 16:71449886:C:CC | acceptor_gain | 1.0000 |
| 16:71449888:A:C | acceptor_gain | 1.0000 |
| 16:71455961:T:C | donor_gain | 1.0000 |
| 16:71449882:TCTA:T | acceptor_loss | 0.9900 |
| 16:71449882:TCTAC:T | acceptor_gain | 0.9900 |
| 16:71449883:CTACT:C | acceptor_gain | 0.9900 |
| 16:71449884:TACTA:T | acceptor_loss | 0.9900 |
| 16:71449885:AC:A | acceptor_loss | 0.9900 |
| 16:71449886:C:G | acceptor_loss | 0.9900 |
| 16:71449886:C:T | acceptor_loss | 0.9900 |
| 16:71449887:T:A | acceptor_loss | 0.9900 |
| 16:71449887:T:G | acceptor_loss | 0.9900 |
| 16:71449888:A:AC | acceptor_gain | 0.9900 |
| 16:71453236:C:A | donor_gain | 0.9900 |
| 16:71453242:CCAGT:C | donor_gain | 0.9900 |
| 16:71454332:C:CT | donor_gain | 0.9900 |
| 16:71454333:T:TT | donor_gain | 0.9900 |
| 16:71455913:C:A | donor_gain | 0.9900 |
| 16:71455960:A:AC | donor_gain | 0.9900 |
| 16:71455960:AT:A | donor_gain | 0.9900 |
| 16:71456825:GGAGC:G | acceptor_gain | 0.9900 |
| 16:71456829:C:CC | acceptor_gain | 0.9900 |
| 16:71462368:CCC:C | acceptor_gain | 0.9900 |
| 16:71462369:CCC:C | acceptor_gain | 0.9900 |
| 16:71454035:GTCTT:G | donor_loss | 0.9800 |
| 16:71454036:TCTTA:T | donor_loss | 0.9800 |
| 16:71454037:CTTAC:C | donor_loss | 0.9800 |
AlphaMissense
4630 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 16:71448486:G:C | F513L | 0.999 |
| 16:71448486:G:T | F513L | 0.999 |
| 16:71448488:A:G | F513L | 0.999 |
| 16:71449074:G:C | F317L | 0.999 |
| 16:71449074:G:T | F317L | 0.999 |
| 16:71449076:A:G | F317L | 0.999 |
| 16:71448318:G:C | F569L | 0.998 |
| 16:71448318:G:T | F569L | 0.998 |
| 16:71448320:A:G | F569L | 0.998 |
| 16:71448538:C:G | R496P | 0.998 |
| 16:71448654:G:C | F457L | 0.998 |
| 16:71448654:G:T | F457L | 0.998 |
| 16:71448656:A:G | F457L | 0.998 |
| 16:71448822:G:C | F401L | 0.998 |
| 16:71448822:G:T | F401L | 0.998 |
| 16:71448824:A:G | F401L | 0.998 |
| 16:71448990:G:C | F345L | 0.998 |
| 16:71448990:G:T | F345L | 0.998 |
| 16:71448992:A:G | F345L | 0.998 |
| 16:71449158:G:C | F289L | 0.998 |
| 16:71449158:G:T | F289L | 0.998 |
| 16:71449160:A:G | F289L | 0.998 |
| 16:71448402:G:C | F541L | 0.997 |
| 16:71448402:G:T | F541L | 0.997 |
| 16:71448404:A:G | F541L | 0.997 |
| 16:71448566:A:G | S487P | 0.997 |
| 16:71448570:A:C | F485L | 0.997 |
| 16:71448570:A:T | F485L | 0.997 |
| 16:71448572:A:G | F485L | 0.997 |
| 16:71448738:G:C | F429L | 0.997 |
dbSNP variants (sampled 300 via entrez): RS1000379998 (16:71458483 G>A,C), RS1000411217 (16:71458726 G>A), RS1000490315 (16:71451892 A>G), RS1000591883 (16:71452180 G>A,C,T), RS1000869773 (16:71447293 A>G,T), RS1001026306 (16:71447586 G>A), RS1001173405 (16:71461690 T>C), RS1001928248 (16:71451041 G>T), RS1002210206 (16:71463011 A>G), RS1002210813 (16:71453948 G>C), RS1002245636 (16:71447977 C>G,T), RS1002562777 (16:71447715 A>G), RS1002632970 (16:71462737 C>G), RS1002881515 (16:71460575 C>T), RS1003180798 (16:71454596 C>A,G,T)
Disease associations
OMIM: gene MIM:194527 | disease phenotypes:
GenCC curated gene-disease
| Disease | Classification | Inheritance |
|---|---|---|
| Tourette syndrome | No Known Disease Relationship | Unknown |
Mondo (1): Tourette syndrome (MONDO:0007661)
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
2 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST007325_161 | General risk tolerance (MTAG) | 2.000000e-11 |
| GCST008161_1 | Waist circumference adjusted for body mass index | 5.000000e-07 |
EFO canonical traits (2, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0008579 | risk-taking behaviour |
| EFO:0007789 | BMI-adjusted waist circumference |
MeSH disease descriptors (1)
| Descriptor | Name | Tree numbers |
|---|---|---|
| D005879 | Tourette Syndrome | C10.228.140.079.898; C10.228.662.825.800; C10.574.500.850; C16.320.400.820; F03.625.992.850 |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
34 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| bisphenol F | affects cotreatment, decreases expression | 1 |
| triphenyl phosphate | affects expression | 1 |
| alpha-pinene | affects cotreatment, increases expression, increases abundance | 1 |
| geraniol | increases expression | 1 |
| terbufos | decreases methylation | 1 |
| methacrylaldehyde | increases expression, increases abundance, affects cotreatment | 1 |
| di-n-butylphosphoric acid | affects expression | 1 |
| CGP 52608 | affects binding, increases reaction | 1 |
| 2-methyl-2H-pyrazole-3-carboxylic acid (2-methyl-4-o-tolylazophenyl)amide | increases expression, decreases reaction | 1 |
| Bortezomib | increases expression | 1 |
| Temozolomide | decreases expression | 1 |
| Acrolein | affects cotreatment, increases expression, increases abundance | 1 |
| Air Pollutants | affects cotreatment, increases abundance, increases expression | 1 |
| Vehicle Emissions | decreases reaction, increases expression | 1 |
| Benzo(a)pyrene | decreases methylation | 1 |
| Cisplatin | increases expression | 1 |
| Dexamethasone | affects cotreatment, decreases expression | 1 |
| Fonofos | decreases methylation | 1 |
| Gallic Acid | decreases expression | 1 |
| Indomethacin | affects cotreatment, decreases expression | 1 |
| Ozone | affects cotreatment, increases expression, increases abundance | 1 |
| Parathion | decreases methylation | 1 |
| Quercetin | increases expression | 1 |
| Smoke | decreases expression | 1 |
| Thiram | decreases expression | 1 |
| Tobacco Smoke Pollution | decreases expression | 1 |
| 1-Methyl-3-isobutylxanthine | affects cotreatment, decreases expression | 1 |
| Aflatoxin B1 | decreases expression | 1 |
| Gold Compounds | decreases expression | 1 |
| Cadmium Chloride | increases expression | 1 |
Cellosaurus cell lines
1 cell lines: 1 transformed cell line
First 10 cell lines (id-ordered, not curated):
| Cellosaurus | Name | Category | Sex |
|---|---|---|---|
| CVCL_XW23 | HEK293 eGFP-ZNF23 | Transformed cell line | Female |
Clinical trials (associated diseases)
183 trials via MONDO — disease-level, not drug-specific.
| Trial | Phase | Status | Title |
|---|---|---|---|
| NCT00152750 | PHASE4 | UNKNOWN | Study of Clonidine on Sleep Architecture in Children With Tourette’s Syndrome (TS) and Comorbid ADHD |
| NCT00226824 | PHASE4 | TERMINATED | Safety Study of Galantamine in Tic Disorders |
| NCT00241176 | PHASE4 | COMPLETED | Open Label Trial of Aripiprazole in Children and Adolescents With Tourette’s Disorder |
| NCT00370838 | PHASE4 | COMPLETED | Comparison of Keppra and Clonidine in the Treatment of Tics |
| NCT01018056 | PHASE4 | COMPLETED | Developing New Treatments for Tourette Syndrome: Therapeutic Trials With Modulators of Glutamatergic Neurotransmission |
| NCT01547000 | PHASE4 | COMPLETED | Guanfacine in Children With Tic Disorders |
| NCT03239210 | PHASE4 | COMPLETED | Effects of Ondansetron in Obsessive-compulsive and Tic Disorders |
| NCT00004376 | PHASE3 | COMPLETED | Phase III Randomized, Double-Blind, Placebo-Controlled Study of Guanfacine for Tourette Syndrome and Attention Deficit Hyperactivity Disorder |
| NCT00206323 | PHASE3 | COMPLETED | A Randomized, Placebo-controlled, Tourette Syndrome Study. |
| NCT00206336 | PHASE3 | COMPLETED | An Open-label Study to Determine the Efficacy and Safety of Topiramate in the Treatment of Tourette Syndrome. |
| NCT00478842 | PHASE3 | COMPLETED | Pallidal Stimulation and Gilles de la Tourette Syndrome |
| NCT00681863 | PHASE3 | TERMINATED | Open-label Extension Study of Pramipexole in the Treatment of Children and Adolescents With Tourette Syndrome |
| NCT01501695 | PHASE3 | COMPLETED | Phase III Study of 5LGr to Treat Tic Disorder |
| NCT03087201 | PHASE3 | COMPLETED | CANNAbinoids in the Treatment of TICS (CANNA-TICS) |
| NCT03487783 | PHASE3 | COMPLETED | Aripiprazole Oral Solution in the Treatment of Children and Adolescents With Tourette’s Syndrome |
| NCT03567291 | PHASE3 | TERMINATED | Evaluation of Safety and Tolerability of Long-term TEV-50717 (Deutetrabenazine) for Treatment of Tourette Syndrome in Children and Adolescents |
| NCT03571256 | PHASE3 | COMPLETED | A Study to Test if TEV-50717 is Effective in Relieving Tics Associated With Tourette Syndrome (TS) |
| NCT06021522 | PHASE3 | ACTIVE_NOT_RECRUITING | A Study to Evaluate Long-term Safety of Ecopipam Tablets in Children, Adolescents and Adults With Tourette’s Disorder |
| NCT00004393 | PHASE2 | COMPLETED | Phase II Double Blind Placebo Controlled Trial of Risperidone in Tourette Syndrome |
| NCT00004652 | PHASE2 | COMPLETED | Phase II Pilot Controlled Study of Short Vs Longer Term Pimozide (Orap) Therapy in Tourette Syndrome |
| NCT00231985 | PHASE2 | COMPLETED | Effectiveness of Behavior Therapy and Psychosocial Therapy for the Treatment of Tourette Syndrome and Chronic Tic Disorder |
| NCT00311909 | PHASE2 | COMPLETED | Thalamic Deep Brain Stimulation for Tourette Syndrome |
| NCT00529308 | PHASE2 | COMPLETED | Transcranial Magnetic Stimulation (TMS) for Individuals With Tourette’s Syndrome |
| NCT00558467 | PHASE2 | COMPLETED | Pramipexole Pilot Phase II Study in Children and Adolescents With Tourette Disorder According to DSM-IV Criteria |
| NCT01043549 | PHASE2 | TERMINATED | Repetitive Transcranial Magnetic Stimulation of the Posterior Parietal Cortex in Patients Suffering From Gilles de la Tourette Syndrome |
| NCT01133353 | PHASE2 | WITHDRAWN | A Study of the Effectiveness and Safety of Tetrabenazine MR in Pediatric Subjects With Tourette’s Syndrome |
| NCT01475383 | PHASE2 | WITHDRAWN | Study Evaluating The Safety And Efficacy Of PF-03654746 In Adult Subjects With Tourette’s Syndrome |
| NCT01647269 | PHASE2 | COMPLETED | A Trial of Bilateral Deep Brain Stimulation to the Globus Pallidus Internum in Tourette Syndrome |
| NCT01904773 | PHASE2 | COMPLETED | Safety, Tolerability, Pharmacokinetic, and Efficacy Study of AZD5213 in Adolescents With Tourette’s Disorder |
| NCT02102698 | PHASE2 | COMPLETED | Ecopipam Treatment of Tourette’s Syndrome in Subjects 7-17 Years |
| NCT02217007 | PHASE2 | WITHDRAWN | A Trial Evaluating the Efficacy, Safety, and Pharmacokinetics of SNC-102 in Subjects With Tourette Syndrome |
| NCT02247206 | PHASE2 | COMPLETED | VoIP Delivered Behavior Therapy for Tourette Syndrome |
| NCT02581865 | PHASE2 | COMPLETED | Safety and Efficacy Study of NBI-98854 in Adults With Tourette Syndrome |
| NCT02619084 | PHASE2 | COMPLETED | Subthalamic Stimulation in Tourette’s Syndrome |
| NCT02679079 | PHASE2 | COMPLETED | Safety and Efficacy Study of NBI-98854 in Children and Adolescents With Tourette Syndrome |
| NCT02879578 | PHASE2 | COMPLETED | Safety and Tolerability Study of NBI-98854 for the Treatment of Subjects With Tourette Syndrome |
| NCT03066193 | PHASE2 | COMPLETED | Efficacy of a Therapeutic Combination of Dronabinol and PEA for Tourette Syndrome |
| NCT03247244 | PHASE2 | TERMINATED | Safety and Efficacy of Cannabis in Tourette Syndrome |
| NCT03325010 | PHASE2 | COMPLETED | Safety, Tolerability, and Efficacy of NBI-98854 for the Treatment of Pediatric Subjects With Tourette Syndrome |
| NCT03444038 | PHASE2 | COMPLETED | Open-Label Safety and Tolerability Study of NBI-98854 for the Treatment of Pediatric Subjects With Tourette Syndrome |
Related Atlas pages
- Associated diseases: Tourette syndrome
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): Tourette syndrome