CINP
gene geneOn this page
Also known as MGC849
Summary
CINP (cyclin dependent kinase 2 interacting protein, HGNC:23789) is a protein-coding gene on chromosome 14q32.31, encoding Cyclin-dependent kinase 2-interacting protein (Q9BW66). Component of the DNA replication complex, which interacts with two kinases, CDK2 and CDC7, thereby providing a functional and physical link between CDK2 and CDC7 during firing of the origins of replication. It is a common-essential gene (DepMap: required in 91.6% of cancer cell lines).
The protein encoded by this gene is reported to be a component of the DNA replication complex as well as a genome-maintenance protein. It may interact with proteins important for replication initiation and has been shown to bind chromatin at the G1 phase of the cell cycle and dissociate from chromatin with replication initiation. It may also serve to regulate checkpoint signaling as part of the DNA damage response. Alternative splicing results in multiple transcript variants.
Source: NCBI Gene 51550 — RefSeq curated summary.
At a glance
- GWAS associations: 2
- Clinical variants (ClinVar): 11 total — 1 likely-pathogenic
- Phenotypes (HPO): 1
- Cancer dependency (DepMap): dependent in 91.6% of screened cell lines (common-essential)
- MANE Select transcript:
NM_032630
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:23789 |
| Approved symbol | CINP |
| Name | cyclin dependent kinase 2 interacting protein |
| Location | 14q32.31 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | MGC849 |
| Ensembl gene | ENSG00000100865 |
| Ensembl biotype | protein_coding |
| OMIM | 613362 |
| Entrez | 51550 |
Gene structure
Transcript identifiers
Ensembl transcripts: 9 — 3 protein_coding, 3 nonsense_mediated_decay, 2 protein_coding_CDS_not_defined, 1 retained_intron
ENST00000216756, ENST00000536961, ENST00000541568, ENST00000558523, ENST00000558764, ENST00000559504, ENST00000559514, ENST00000560326, ENST00000561468
RefSeq mRNA: 2 — MANE Select: NM_032630
NM_001320046, NM_032630
CCDS: CCDS53915, CCDS9972
Canonical transcript exons
ENST00000216756 — 5 exons
| Exon | Start | End |
|---|---|---|
| ENSE00000660478 | 102355768 | 102355897 |
| ENSE00002502170 | 102348282 | 102348759 |
| ENSE00002519887 | 102362845 | 102362890 |
| ENSE00003523399 | 102359419 | 102359587 |
| ENSE00003639323 | 102349919 | 102350048 |
Expression profiles
Bgee: expression breadth ubiquitous, 196 present calls, max score 93.22.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 18.0618 / max 509.6753, expressed in 1804 samples.
FANTOM5 promoters (1 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 145038 | 18.0618 | 1804 |
Top tissues by expression
268 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| C1 segment of cervical spinal cord | UBERON:0006469 | 93.22 | gold quality |
| body of pancreas | UBERON:0001150 | 93.02 | gold quality |
| monocyte | CL:0000576 | 91.57 | gold quality |
| apex of heart | UBERON:0002098 | 91.41 | gold quality |
| anterior cingulate cortex | UBERON:0009835 | 91.36 | gold quality |
| hindlimb stylopod muscle | UBERON:0004252 | 91.28 | gold quality |
| mononuclear cell | CL:0000842 | 91.20 | gold quality |
| cingulate cortex | UBERON:0003027 | 91.19 | gold quality |
| leukocyte | CL:0000738 | 91.07 | gold quality |
| right adrenal gland | UBERON:0001233 | 90.86 | gold quality |
| mucosa of transverse colon | UBERON:0004991 | 90.68 | gold quality |
| right adrenal gland cortex | UBERON:0035827 | 90.59 | gold quality |
| left testis | UBERON:0004533 | 90.56 | gold quality |
| stromal cell of endometrium | CL:0002255 | 90.43 | gold quality |
| prefrontal cortex | UBERON:0000451 | 90.36 | gold quality |
| right testis | UBERON:0004534 | 90.17 | gold quality |
| islet of Langerhans | UBERON:0000006 | 90.12 | gold quality |
| right lobe of liver | UBERON:0001114 | 90.08 | gold quality |
| left adrenal gland | UBERON:0001234 | 90.08 | gold quality |
| left adrenal gland cortex | UBERON:0035825 | 89.95 | gold quality |
| body of stomach | UBERON:0001161 | 89.91 | gold quality |
| right frontal lobe | UBERON:0002810 | 89.74 | gold quality |
| pancreas | UBERON:0001264 | 89.56 | gold quality |
| right atrium auricular region | UBERON:0006631 | 89.26 | gold quality |
| spinal cord | UBERON:0002240 | 89.10 | gold quality |
| lower esophagus mucosa | UBERON:0035834 | 88.90 | gold quality |
| granulocyte | CL:0000094 | 88.57 | gold quality |
| gastrocnemius | UBERON:0001388 | 88.52 | gold quality |
| amygdala | UBERON:0001876 | 88.38 | gold quality |
| left coronary artery | UBERON:0001626 | 88.35 | gold quality |
Single-cell (SCXA)
Detected in 2 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 8.05 |
| E-CURD-112 | no | 3.84 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
12 targeting CINP, 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-4283 | 100.00 | 66.42 | 2097 |
| HSA-MIR-185-3P | 99.95 | 67.01 | 1743 |
| HSA-MIR-4492 | 99.87 | 68.25 | 3611 |
| HSA-MIR-6871-3P | 99.43 | 68.85 | 741 |
| HSA-MIR-423-5P | 98.69 | 67.48 | 1522 |
| HSA-MIR-767-3P | 98.61 | 67.69 | 1192 |
| HSA-MIR-3184-5P | 98.56 | 67.13 | 1491 |
| HSA-MIR-3151-3P | 97.80 | 66.16 | 479 |
| HSA-MIR-3116 | 97.07 | 65.78 | 1324 |
| HSA-MIR-4296 | 96.35 | 63.55 | 1233 |
| HSA-MIR-4265 | 96.18 | 64.68 | 557 |
| HSA-MIR-4322 | 96.18 | 64.85 | 539 |
Functional genomics
DepMap (CRISPR cell-line fitness): dependent in 91.6% of screened cell lines, common-essential.
Literature-anchored findings (GeneRIF, showing 4)
- CINP is part of the Cdc7-dependent mechanism of origin firing and a functional and physical link between Cdk2 and Cdc7 complexes at the origins (PMID:16082200)
- CINP interacts with ATR-interacting protein and regulates ATR-dependent signaling, resistance to replication stress, and G2 checkpoint integrity. (PMID:19889979)
- NS5B delays cells in S phase through interaction with CINP and relocalization of the protein from the nucleus to the cytoplasm (PMID:21628470)
- Silencing CINP had the most potent inhibitory effect on cell growth in KLF5-expressing cells but did not affect parental TSU-Pr1 cells. Further analyses not only confirmed the physical interaction between KLF5 and CINP, also demonstrated that knockdown of CINP attenuated the effects of KLF5 on cell cycle progression, apoptosis and tumorigenesis. (PMID:30289973)
Cross-species orthologs
4 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | cinp | ENSDARG00000073910 |
| mus_musculus | Cinp | ENSMUSG00000021276 |
| rattus_norvegicus | Cinp | ENSRNOG00000008035 |
| drosophila_melanogaster | CG34174 | FBGN0085203 |
Protein
Protein identifiers
Cyclin-dependent kinase 2-interacting protein — Q9BW66 (reviewed: Q9BW66)
All UniProt accessions (3): Q9BW66, H0YKY0, H0YN33
UniProt curated annotations — full annotation on UniProt →
Function. Component of the DNA replication complex, which interacts with two kinases, CDK2 and CDC7, thereby providing a functional and physical link between CDK2 and CDC7 during firing of the origins of replication. Regulates ATR-mediated checkpoint signaling in response to DNA damage. Part of the 55LCC heterohexameric ATPase complex which is chromatin-associated and promotes replisome proteostasis to maintain replication fork progression and genome stability. Required for replication fork progression, sister chromatid cohesion, and chromosome stability. The ATPase activity is specifically enhanced by replication fork DNA and is coupled to cysteine protease-dependent cleavage of replisome substrates in response to replication fork damage. Uses ATPase activity to process replisome substrates in S-phase, facilitating their proteolytic turnover from chromatin to ensure DNA replication and mitotic fidelity. As part of 55LCC complex, also involved in the cytoplasmic maturation steps of pre-60S ribosomal particles by promoting the release of shuttling protein RSL24D1/RLP24 from the pre-ribosomal particles.
Subunit / interactions. Homodimer. Part of the 55LCC heterohexameric ATPase complex composed at least of AIRIM, AFG2A, AFG2B and CINP. Interacts with AIRIM. Interacts with CDK2 and CDC7. Interacts with the components of the replication complex, MCM2, MCM3, MCM4, MCM5, MCM6, MCM7 and with ORC2-containing complexes. Interacts with ATRIP. Interacts with CEP152. Associates with pre-60S ribosomal particles.
Subcellular location. Nucleus.
Post-translational modifications. Phosphorylated by CDC7 but not by CDK2.
Similarity. Belongs to the CINP family.
Isoforms (3)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q9BW66-1 | 1 | yes |
| Q9BW66-2 | 2 | |
| Q9BW66-3 | 3 |
RefSeq proteins (2): NP_001306975, NP_116019* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR023250 | Cyclin-dep_Kinase_2_interact | Family |
UniProt features (30 total): mutagenesis site 6, sequence conflict 6, helix 6, modified residue 3, splice variant 3, sequence variant 2, chain 1, coiled-coil region 1, binding site 1, strand 1
Structure
Experimental structures (PDB)
4 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 8CIH | X-RAY DIFFRACTION | 2 |
| 9LGO | ELECTRON MICROSCOPY | 3.51 |
| 9GWJ | X-RAY DIFFRACTION | 3.69 |
| 8RHN | ELECTRON MICROSCOPY | 4.5 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q9BW66-F1 | 88.19 | 0.67 |
Functional residue map
Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.
Ligand- & substrate-binding residues (1): 202
Post-translational modifications (3): 1, 69, 73
Mutagenesis-validated functional residues (6):
| Position | Phenotype |
|---|---|
| 11–14 | no effect on interaction with afg2a and afg2b. |
| 21–24 | no effect on interaction with afg2a and afg2b. |
| 162 | loss of interaction with afg2a and afg2b. |
| 178 | no effect on interaction with afg2a and afg2b. |
| 181 | strongly decreases interaction with afg2a and afg2b. |
| 184 | strongly decreases interaction with afg2a and afg2b. |
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 92 (showing top):
GOBP_RIBOSOME_BIOGENESIS, GOBP_REGULATION_OF_CELLULAR_COMPONENT_BIOGENESIS, MODULE_206, GOBP_DNA_DAMAGE_RESPONSE, RFX1_02, GOBP_RIBONUCLEOPROTEIN_COMPLEX_BIOGENESIS, GOBP_RIBOSOMAL_LARGE_SUBUNIT_BIOGENESIS, chr14q32, GOBP_DNA_REPLICATION, BERENJENO_TRANSFORMED_BY_RHOA_UP, GOBP_CELL_DIVISION, GOCC_ATPASE_COMPLEX, MASSARWEH_TAMOXIFEN_RESISTANCE_UP, SANSOM_APC_MYC_TARGETS, SANSOM_APC_TARGETS_REQUIRE_MYC
GO Biological Process (6): DNA replication (GO:0006260), DNA repair (GO:0006281), ribosomal large subunit biogenesis (GO:0042273), cell division (GO:0051301), DNA damage response (GO:0006974), ribosome biogenesis (GO:0042254)
GO Molecular Function (2): preribosome binding (GO:1990275), protein binding (GO:0005515)
GO Cellular Component (1): nucleus (GO:0005634)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| DNA metabolic process | 2 |
| ribonucleoprotein complex biogenesis | 2 |
| DNA biosynthetic process | 1 |
| DNA damage response | 1 |
| ribosome biogenesis | 1 |
| cellular process | 1 |
| cellular response to stress | 1 |
| ribonucleoprotein complex binding | 1 |
| binding | 1 |
| intracellular membrane-bounded organelle | 1 |
Protein interactions and networks
STRING
2212 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| CINP | ATRIP | Q8WXE1 | 777 |
| CINP | AIRIM | Q9NX04 | 592 |
| CINP | ORC2 | Q13416 | 587 |
| CINP | CDC7 | O00311 | 567 |
| CINP | MCM5 | P33992 | 512 |
| CINP | NDUFB7 | P17568 | 435 |
| CINP | CCNA1 | P78396 | 409 |
| CINP | CDKN3 | Q16667 | 400 |
| CINP | NIT2 | Q9NQR4 | 381 |
| CINP | DSTN | P18282 | 367 |
| CINP | GCDH | Q92947 | 363 |
| CINP | AFG2B | Q9BVQ7 | 356 |
| CINP | ZNF280B | Q86YH2 | 354 |
| CINP | CCNE1 | P24864 | 353 |
| CINP | PAF1 | Q8N7H5 | 349 |
IntAct
185 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| AIRIM | CINP | psi-mi:“MI:0915”(physical association) | 0.920 |
| CINP | AIRIM | psi-mi:“MI:0915”(physical association) | 0.920 |
| CINP | AIRIM | psi-mi:“MI:0407”(direct interaction) | 0.920 |
| ATR | ATRIP | psi-mi:“MI:0914”(association) | 0.890 |
| CINP | AFG2A | psi-mi:“MI:0914”(association) | 0.830 |
| AFG2A | AFG2B | psi-mi:“MI:0915”(physical association) | 0.800 |
| AFG2A | AFG2B | psi-mi:“MI:0407”(direct interaction) | 0.800 |
| AFG2B | AFG2A | psi-mi:“MI:0914”(association) | 0.800 |
| AFG2A | AFG2B | psi-mi:“MI:0914”(association) | 0.800 |
| BLZF1 | CINP | psi-mi:“MI:0915”(physical association) | 0.780 |
| CINP | BLZF1 | psi-mi:“MI:0915”(physical association) | 0.780 |
| CLUAP1 | CINP | psi-mi:“MI:0915”(physical association) | 0.740 |
| CINP | ATRIP | psi-mi:“MI:0915”(physical association) | 0.730 |
| CINP | ATRIP | psi-mi:“MI:0407”(direct interaction) | 0.730 |
| ATRIP | CINP | psi-mi:“MI:0407”(direct interaction) | 0.730 |
BioGRID (94): CINP (Two-hybrid), CINP (Two-hybrid), CINP (Two-hybrid), C1orf109 (Two-hybrid), ATRIP (Two-hybrid), FBF1 (Two-hybrid), SYCE1 (Two-hybrid), CINP (Affinity Capture-MS), CINP (Two-hybrid), CINP (Affinity Capture-MS), CINP (Synthetic Lethality), CINP (Affinity Capture-MS), SPATA5L1 (Affinity Capture-MS), C1orf109 (Affinity Capture-MS), KIF7 (Affinity Capture-MS)
ESM2 similar proteins: A0A1B0GTZ2, A3RM20, A4UHQ4, A6H7E2, A6NGH7, A9JSR5, B0BK70, O55527, O74982, P04861, P04862, P06747, P0C137, P0C139, P0C142, P14253, P14254, P33493, P35940, P40167, P69479, P69480, P69738, Q0GBX8, Q13352, Q14BK3, Q2T9U9, Q2YDE5, Q32L17, Q3UYG1, Q4KLZ4, Q4VKV6, Q5I0J4, Q5RE16, Q66HB6, Q6AXY9, Q810N5, Q8IR45, Q8IYM0, Q8NCU1
Diamond homologs: A6H7E2, Q6GM07, Q9BW66, Q9D0V8
SIGNOR signaling
1 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| CINP | “form complex” | “SPATA5-SPATA5L1 ATPase complex” | binding |
Disease & clinical
Clinical variants and AI predictions
ClinVar
11 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 1 |
| Uncertain significance | 1 |
| Likely benign | 0 |
| Benign | 1 |
Top pathogenic / likely-pathogenic (1)
| Variant ID | HGVS | Classification |
|---|---|---|
| 402142 | NM_032630.3(CINP):c.637T>G (p.Ter213Gly) | Likely pathogenic |
SpliceAI
897 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 14:102348755:CTCAT:C | acceptor_gain | 1.0000 |
| 14:102348757:CAT:C | acceptor_gain | 1.0000 |
| 14:102348760:C:CC | acceptor_gain | 1.0000 |
| 14:102349911:CTACT:C | donor_loss | 1.0000 |
| 14:102349912:TACTT:T | donor_loss | 1.0000 |
| 14:102349913:ACTTA:A | donor_loss | 1.0000 |
| 14:102349914:CTT:C | donor_loss | 1.0000 |
| 14:102349915:TTA:T | donor_loss | 1.0000 |
| 14:102349916:TACA:T | donor_loss | 1.0000 |
| 14:102349917:A:AC | donor_gain | 1.0000 |
| 14:102349917:A:C | donor_loss | 1.0000 |
| 14:102349918:C:CT | donor_gain | 1.0000 |
| 14:102349918:CA:C | donor_gain | 1.0000 |
| 14:102349918:CAG:C | donor_gain | 1.0000 |
| 14:102349918:CAGA:C | donor_gain | 1.0000 |
| 14:102349918:CAGAA:C | donor_gain | 1.0000 |
| 14:102349966:T:A | donor_gain | 1.0000 |
| 14:102350044:TTGGT:T | acceptor_gain | 1.0000 |
| 14:102350045:TGGT:T | acceptor_gain | 1.0000 |
| 14:102350046:GGT:G | acceptor_gain | 1.0000 |
| 14:102350047:GTCTG:G | acceptor_loss | 1.0000 |
| 14:102350048:TCTGA:T | acceptor_loss | 1.0000 |
| 14:102350049:C:CC | acceptor_gain | 1.0000 |
| 14:102350061:C:CT | acceptor_gain | 1.0000 |
| 14:102355767:CCAA:C | donor_gain | 1.0000 |
| 14:102355895:TTC:T | acceptor_gain | 1.0000 |
| 14:102355896:TC:T | acceptor_gain | 1.0000 |
| 14:102355897:CC:C | acceptor_gain | 1.0000 |
| 14:102355898:C:CC | acceptor_gain | 1.0000 |
| 14:102355899:T:A | acceptor_loss | 1.0000 |
AlphaMissense
1392 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 14:102348640:A:G | W186R | 0.994 |
| 14:102348640:A:T | W186R | 0.994 |
| 14:102359486:A:G | W37R | 0.993 |
| 14:102359486:A:T | W37R | 0.993 |
| 14:102359507:A:G | W30R | 0.992 |
| 14:102359507:A:T | W30R | 0.992 |
| 14:102359484:C:A | W37C | 0.989 |
| 14:102359484:C:G | W37C | 0.989 |
| 14:102359522:C:G | D25H | 0.985 |
| 14:102349937:A:G | W140R | 0.983 |
| 14:102349937:A:T | W140R | 0.983 |
| 14:102349944:G:C | F137L | 0.981 |
| 14:102349944:G:T | F137L | 0.981 |
| 14:102349946:A:G | F137L | 0.981 |
| 14:102359512:G:T | A28D | 0.981 |
| 14:102359523:C:A | K24N | 0.980 |
| 14:102359523:C:G | K24N | 0.980 |
| 14:102348638:C:A | W186C | 0.979 |
| 14:102348638:C:G | W186C | 0.979 |
| 14:102355790:A:G | L95P | 0.978 |
| 14:102359532:T:A | R21S | 0.978 |
| 14:102359532:T:G | R21S | 0.978 |
| 14:102359516:C:G | A27P | 0.973 |
| 14:102359521:T:G | D25A | 0.973 |
| 14:102348578:C:A | E206D | 0.971 |
| 14:102348578:C:G | E206D | 0.971 |
| 14:102359538:A:C | S19R | 0.970 |
| 14:102359538:A:T | S19R | 0.970 |
| 14:102359540:T:G | S19R | 0.970 |
| 14:102359485:C:G | W37S | 0.969 |
dbSNP variants (sampled 300 via entrez): RS1000006467 (14:102354305 C>T), RS1000050251 (14:102354939 C>G,T), RS1000122468 (14:102356165 A>G,T), RS1000491520 (14:102359128 G>A), RS1000545288 (14:102359469 A>C,G), RS1000774353 (14:102353546 A>G), RS1001619695 (14:102358874 A>G), RS1001672108 (14:102359055 T>A), RS1001954941 (14:102349772 T>A), RS1002050513 (14:102352498 T>C,G), RS1002255000 (14:102364568 G>A), RS1002342579 (14:102362971 G>A), RS1002354967 (14:102347793 G>A), RS1002515334 (14:102361889 G>T), RS1002929563 (14:102353611 CTAAT>C)
Disease associations
OMIM: gene MIM:613362 | disease phenotypes:
GenCC curated gene-disease
Mondo (2): intellectual disability (MONDO:0001071), microcephaly (MONDO:0001149)
Orphanet (1): NON RARE IN EUROPE: Unexplained intellectual disability (Orphanet:319658)
HPO phenotypes
1 total (1 of 1 shown, HPO-id order):
| HPO | Term |
|---|---|
| HP:0000252 | Microcephaly |
GWAS associations
2 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST005951_8 | Body mass index | 7.000000e-09 |
| GCST010002_161 | Refractive error | 1.000000e-20 |
EFO canonical traits (1, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0004340 | body mass index |
MeSH disease descriptors (2)
| Descriptor | Name | Tree numbers |
|---|---|---|
| D008607 | Intellectual Disability | C10.597.606.360; C23.888.592.604.646; F01.700.687; F03.625.539 |
| D008831 | Microcephaly | C05.660.207.620; C10.500.507.400.500; C16.131.621.207.620; C16.131.666.507.400.500 |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
19 total (human), top 19 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| sodium arsenite | increases abundance, increases expression, decreases expression, affects cotreatment | 2 |
| Arsenic | affects methylation, affects cotreatment, increases abundance, increases expression | 2 |
| Valproic Acid | affects expression, decreases expression | 2 |
| triphenyl phosphate | affects expression | 1 |
| pirinixic acid | affects binding, decreases expression, increases activity | 1 |
| bisphenol A | decreases methylation | 1 |
| manganese chloride | affects cotreatment, increases abundance, increases expression | 1 |
| vanadyl sulfate | decreases expression | 1 |
| bisphenol S | affects cotreatment, increases expression | 1 |
| Carbamazepine | affects expression | 1 |
| Dichlorodiphenyl Dichloroethylene | increases expression | 1 |
| Dexamethasone | affects cotreatment, increases expression | 1 |
| Diazinon | increases methylation | 1 |
| Doxorubicin | decreases expression | 1 |
| Indomethacin | affects cotreatment, increases expression | 1 |
| Manganese | increases abundance, increases expression, affects cotreatment | 1 |
| Thiram | decreases expression | 1 |
| 1-Methyl-3-isobutylxanthine | affects cotreatment, increases expression | 1 |
| Copper Sulfate | decreases expression | 1 |
Clinical trials (associated diseases)
211 trials via MONDO — disease-level, not drug-specific.
| Trial | Phase | Status | Title |
|---|---|---|---|
| NCT05657860 | PHASE4 | COMPLETED | Guanfacine Extended Release for the Reduction of Aggression and Self-injurious Behavior Associated With Prader-Willi Syndrome |
| NCT05744479 | PHASE4 | RECRUITING | Metformin for Antipsychotic-induced Weight Gain in Adults With Intellectual Disability |
| NCT06107829 | PHASE4 | WITHDRAWN | Valbenazine Treatment of Tardive Dyskinesia in Adults With Intellectual/Developmental Disabilities |
| NCT06997198 | PHASE4 | NOT_YET_RECRUITING | Deutetrabenazine Treatment for Tardive Dyskinesia in Intellectual/Developmental Disabilities |
| NCT02270736 | PHASE3 | COMPLETED | Clinical Study to Investigate the Efficacy and Safety of NT 201 Compared to Placebo in the Treatment of Chronic Troublesome Drooling Associated With Neurological Disorders and/or Intellectual Disability |
| NCT02304302 | PHASE2 | COMPLETED | Down Syndrome Memantine Follow-up Study |
| NCT03862950 | PHASE2 | COMPLETED | A Trial of Metformin in Individuals With Fragile X Syndrome (Met) |
| NCT04529226 | PHASE2 | UNKNOWN | Study to Compare Clozapine vs Treatment as Usual in People With Intellectual Disability & Treatment-resistant Psychosis |
| NCT04821856 | PHASE2 | COMPLETED | Evaluation of the Effectiveness of Cannabidiol in Treating Severe Behavioural Problems in Children and Adolescents With Intellectual Disability |
| NCT05273320 | PHASE1 | COMPLETED | Clinical Trial of Nabilone for Aggression in Adults With Intellectual and Developmental Disabilities |
| NCT05301361 | PHASE1 | ENROLLING_BY_INVITATION | Sensitivity of the NIH Toolbox to Stimulant Treatment in Intellectual Disabilities |
| NCT06016764 | PHASE1 | COMPLETED | Use of MRI and cTBS for Catatonia in Autism |
| NCT06586827 | PHASE1 | COMPLETED | Impact of Competency-Based Training and Technical Assistance Employment Outcomes of Individuals With ID/DD |
| NCT07531940 | PHASE1 | NOT_YET_RECRUITING | Escalating Doses of Memantine in Down Syndrome (MEDS-123) |
| NCT03479476 | PHASE2/PHASE3 | COMPLETED | A Trial of Metformin in Individuals With Fragile X Syndrome |
| NCT02616796 | PHASE1/PHASE2 | COMPLETED | Effects of Social Gaze Training on Brain and Behavior in Fragile X Syndrome |
| NCT06860672 | EARLY_PHASE1 | RECRUITING | Clinical Trial of the Dual Vector Base Editor for the Treatment of the CHD3-R1025W Mutation |
| NCT00597948 | Not specified | COMPLETED | Healthy Lifestyles for People With Intellectual Disabilities |
| NCT01087320 | Not specified | RECRUITING | Genome Medical Sequencing for Gene Discovery |
| NCT01652963 | Not specified | UNKNOWN | Picture-based Computerised Assessment and Training of Cognitive Behaviour Therapy Skills |
| NCT01695395 | Not specified | COMPLETED | Mental Health Care Provision for Adults With Intellectual Disability and a Mental Disorder |
| NCT01867554 | Not specified | COMPLETED | Research and Characterization of New Genes Involved in Intellectual Disability |
| NCT01915381 | Not specified | COMPLETED | Improving Adherence Healthy Lifestyle With a Smartphone Application Based on Adults With Intellectual Disabilities |
| NCT01988623 | Not specified | COMPLETED | Pivotal Response Treatment for Individuals With Intellectual Disabilities |
| NCT02099773 | Not specified | COMPLETED | Support Staff-client Interactions With Augmentative and Alternative Communication |
| NCT02136849 | Not specified | COMPLETED | Inter-regional Project of the Great Western Exploration Approach for Exome Molecular Causes Severe Intellectual Disability Isolated or Syndromic |
| NCT02225041 | Not specified | COMPLETED | Sedation Strategy and Cognitive Outcome After Critical Illness in Early Childhood |
| NCT02414438 | Not specified | COMPLETED | Establishing the Clinical Utility of First StepDx PLUS and NextStepDx PLUS Study |
| NCT02451761 | Not specified | COMPLETED | Apparently Balanced Chromosomal Translocation/ Next-generation Sequencing/ Intellectual Disability |
| NCT02461420 | Not specified | ACTIVE_NOT_RECRUITING | Mapping the Genotype, Phenotype, and Natural History of Phelan-McDermid Syndrome |
| NCT02461459 | Not specified | ACTIVE_NOT_RECRUITING | Autism Spectrum Disorder (ASD) and Intellectual Disability (ID) Determinants in Tuberous Sclerosis Complex (TSC) |
| NCT02486081 | Not specified | COMPLETED | Development and Application-Smart Football for Movement Evaluation and Training in the Special Education Population |
| NCT02504502 | Not specified | COMPLETED | Enhancing Genomic Laboratory Reports to Enhance Communication and Empower Patients |
| NCT02513277 | Not specified | COMPLETED | Diabetes Screening & Prevention for People With Learning (Intellectual) Disabilities:STOP Diabetes Study |
| NCT02561754 | Not specified | COMPLETED | Weight Management for Adolescents With IDD |
| NCT02591446 | Not specified | COMPLETED | Transcranial Magnetic Stimulation Studies in Autism Spectrum Disorders |
| NCT02714868 | Not specified | COMPLETED | Evaluation of Project TEAM (Teens Making Environmental and Activity Modifications) |
| NCT02721394 | Not specified | UNKNOWN | FCT With Young Children With ID in the UK: A Feasibility Project V.1 |
| NCT02746614 | Not specified | COMPLETED | Psychomotor Therapy Effects in Adaptive Behavior and Motor Proficiency in Intellectual Disability |
| NCT02836405 | Not specified | COMPLETED | TMS for the Investigation of Brain Plasticity in Autism Spectrum Disorders |
Related Atlas pages
No linked Atlas pages yet — the cross-entity mesh grows as the corpus expands.