CACNG7

gene
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Summary

CACNG7 (calcium voltage-gated channel auxiliary subunit gamma 7, HGNC:13626) is a protein-coding gene on chromosome 19q13.42, encoding Voltage-dependent calcium channel gamma-7 subunit (P62955). Regulates the activity of L-type calcium channels that contain CACNA1C as pore-forming subunit.

The protein encoded by this gene is a type II transmembrane AMPA receptor regulatory protein (TARP). TARPs regulate both trafficking and channel gating of the AMPA receptors. This gene is part of a functionally diverse eight-member protein subfamily of the PMP-22/EMP/MP20 family and is located in a cluster with two family members, a type I TARP and a calcium channel gamma subunit.

Source: NCBI Gene 59284 — RefSeq curated summary.

At a glance

  • Clinical variants (ClinVar): 41 total — 1 likely-pathogenic
  • Druggable target: yes — 2 molecules with ChEMBL bioactivity
  • MANE Select transcript: NM_031896

Identifiers

Gene identifiers

FieldValue
HGNC IDHGNC:13626
Approved symbolCACNG7
Namecalcium voltage-gated channel auxiliary subunit gamma 7
Location19q13.42
Locus typegene with protein product
StatusApproved
Ensembl geneENSG00000105605
Ensembl biotypeprotein_coding
OMIM606899
Entrez59284

Gene structure

Transcript identifiers

Ensembl transcripts: 4 — 3 protein_coding, 1 protein_coding_CDS_not_defined

ENST00000222212, ENST00000391766, ENST00000391767, ENST00000468076

RefSeq mRNA: 2 — MANE Select: NM_031896 NM_001384801, NM_031896

CCDS: CCDS12868

Canonical transcript exons

ENST00000391767 — 6 exons

ExonStartEnd
ENSE000007248765391450053914586
ENSE000011229595394147053941615
ENSE000015096865394203653943950
ENSE000015096875391280353913027
ENSE000036060905391536553915505
ENSE000039110335390927853909517

Expression profiles

Bgee: expression breadth ubiquitous, 110 present calls, max score 97.19.

FANTOM5 (CAGE): breadth broad, TPM avg 2.9562 / max 75.7450, expressed in 487 samples.

FANTOM5 promoters (3 alternative TSS)

Promoter IDTPM avgSamples expressed
1774352.6092472
1774360.2943188
1774340.052621

Top tissues by expression

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

TissueAnatomy IDExpression scoreQuality
cortical plateUBERON:000534397.19gold quality
right frontal lobeUBERON:000281096.30gold quality
right hemisphere of cerebellumUBERON:001489095.57gold quality
anterior cingulate cortexUBERON:000983595.50gold quality
Brodmann (1909) area 9UBERON:001354095.19gold quality
cerebellar hemisphereUBERON:000224594.85gold quality
cerebellar cortexUBERON:000212994.69gold quality
prefrontal cortexUBERON:000045194.23gold quality
C1 segment of cervical spinal cordUBERON:000646993.21gold quality
amygdalaUBERON:000187691.56gold quality
ganglionic eminenceUBERON:000402391.53gold quality
cerebellumUBERON:000203791.18gold quality
hypothalamusUBERON:000189890.34gold quality
putamenUBERON:000187489.31gold quality
nucleus accumbensUBERON:000188288.50gold quality
spinal cordUBERON:000224088.46gold quality
caudate nucleusUBERON:000187388.21gold quality
dorsolateral prefrontal cortexUBERON:000983487.88gold quality
neocortexUBERON:000195087.64gold quality
ventricular zoneUBERON:000305387.57gold quality
frontal cortexUBERON:000187086.66gold quality
cerebral cortexUBERON:000095682.68gold quality
brainUBERON:000095582.33gold quality
forebrainUBERON:000189082.04gold quality
substantia nigraUBERON:000203880.70gold quality
pancreatic ductal cellCL:000207978.58silver quality
Ammon’s hornUBERON:000195478.58gold quality
midbrainUBERON:000189176.27gold quality
temporal lobeUBERON:000187173.19gold quality
adenohypophysisUBERON:000219673.01gold quality

Single-cell (SCXA)

Detected in 1 experiment(s), a significant marker in 0.

ExperimentMarker?Max mean expression
E-ANND-3no1.46

Regulation

Is transcription factor: no

Cross-species orthologs

6 orthologs

OrganismSymbolGene ID
danio_reriocacng7aENSDARG00000063006
danio_reriocacng7bENSDARG00000070624
mus_musculusCacng7ENSMUSG00000069806
rattus_norvegicusCacng7ENSRNOG00000056257
drosophila_melanogasterstg1FBGN0288700
caenorhabditis_elegansWBGENE00007670

Paralogs (5): CACNG3 (ENSG00000006116), CACNG5 (ENSG00000075429), CACNG4 (ENSG00000075461), CACNG8 (ENSG00000142408), CACNG2 (ENSG00000166862)

Protein

Protein identifiers

Voltage-dependent calcium channel gamma-7 subunitP62955 (reviewed: P62955)

Alternative names: Neuronal voltage-gated calcium channel gamma-7 subunit, Transmembrane AMPAR regulatory protein gamma-7

All UniProt accessions (2): P62955, A0A0C4DFY2

UniProt curated annotations — full annotation on UniProt →

Function. Regulates the activity of L-type calcium channels that contain CACNA1C as pore-forming subunit. Regulates the trafficking and gating properties of AMPA-selective glutamate receptors (AMPARs). Promotes their targeting to the cell membrane and synapses and modulates their gating properties by slowing their rates of activation, deactivation and desensitization and by mediating their resensitization. Displays subunit-specific AMPA receptor regulation. Shows specificity only for GRIA1 and GRIA2.

Subunit / interactions. Interacts with CACNA1C. Identified in a complex with the L-type calcium channel subunits CACNA1C, CACNA2D1 and either CACNB1 or CACNB2. Acts as an auxiliary subunit for AMPA-selective glutamate receptors (AMPARs), such as GRIA1 and GRIA2.

Subcellular location. Cell membrane.

Tissue specificity. Detected in heart left ventricle. Widely expressed.

Similarity. Belongs to the PMP-22/EMP/MP20 family. CACNG subfamily.

RefSeq proteins (2): NP_001371730, NP_114102* (*=MANE)

Domains & families (InterPro)

IDNameType
IPR004031PMP22/EMP/MP20/ClaudinFamily
IPR008368VDCC_gsuFamily
IPR008371VDCC_g7suFamily
IPR051072CACNG_subunitFamily

Pfam: PF13903

UniProt features (9 total): transmembrane region 4, modified residue 3, chain 1, sequence conflict 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

ModelpLDDTFraction very-high
AF-P62955-F171.340.25

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 (3): 222, 225, 273

Function

Pathways and Gene Ontology

Reactome pathways

7 pathways

IDPathway
R-HSA-5576892Phase 0 - rapid depolarisation
R-HSA-5576893Phase 2 - plateau phase
R-HSA-9856532Mechanical load activates signaling by PIEZO1 and integrins in osteocytes
R-HSA-397014Muscle contraction
R-HSA-5576891Cardiac conduction
R-HSA-8953897Cellular responses to stimuli
R-HSA-9855142Cellular responses to mechanical stimuli

MSigDB gene sets: 168 (showing top): GOBP_POSITIVE_REGULATION_OF_SYNAPTIC_TRANSMISSION_GLUTAMATERGIC, GOBP_REGULATION_OF_CELL_MORPHOGENESIS, GOBP_NEURON_PROJECTION_EXTENSION, GOBP_REGULATION_OF_MRNA_CATABOLIC_PROCESS, GOBP_REGULATION_OF_DEVELOPMENTAL_GROWTH, GOBP_REGULATION_OF_SYNAPTIC_TRANSMISSION_GLUTAMATERGIC, KEGG_MAPK_SIGNALING_PATHWAY, GOBP_GROWTH, GOBP_MACROMOLECULE_CATABOLIC_PROCESS, GOBP_NEUROGENESIS, HATADA_METHYLATED_IN_LUNG_CANCER_DN, GOBP_PROTEIN_LOCALIZATION_TO_CELL_PERIPHERY, GOBP_MONOATOMIC_CATION_TRANSPORT, GOBP_CELL_CELL_SIGNALING, GOBP_POST_TRANSCRIPTIONAL_REGULATION_OF_GENE_EXPRESSION

GO Biological Process (11): calcium ion transport (GO:0006816), transmission of nerve impulse (GO:0019226), regulation of mRNA stability (GO:0043488), positive regulation of synaptic transmission, glutamatergic (GO:0051968), postsynaptic neurotransmitter receptor diffusion trapping (GO:0098970), neurotransmitter receptor localization to postsynaptic specialization membrane (GO:0099645), positive regulation of dendrite extension (GO:1903861), regulation of AMPA receptor activity (GO:2000311), monoatomic ion transport (GO:0006811), monoatomic ion transmembrane transport (GO:0034220), calcium ion transmembrane transport (GO:0070588)

GO Molecular Function (5): voltage-gated calcium channel activity (GO:0005245), calcium channel regulator activity (GO:0005246), channel regulator activity (GO:0016247), calcium channel activity (GO:0005262), protein binding (GO:0005515)

GO Cellular Component (11): early endosome (GO:0005769), plasma membrane (GO:0005886), voltage-gated calcium channel complex (GO:0005891), AMPA glutamate receptor complex (GO:0032281), neuronal cell body (GO:0043025), cerebellar mossy fiber (GO:0044300), postsynaptic density membrane (GO:0098839), glutamatergic synapse (GO:0098978), L-type voltage-gated calcium channel complex (GO:1990454), membrane (GO:0016020), monoatomic ion channel complex (GO:0034702)

Reactome top-level categories

Rollup of top-4 pathways:

CategoryPathways
Cardiac conduction2
Cellular responses to mechanical stimuli1
Muscle contraction1
Cellular responses to stimuli1

GO top-level categories

Rollup of top GO terms by namespace:

CategoryTerms
postsynaptic membrane2
receptor localization to synapse2
regulation of postsynaptic membrane neurotransmitter receptor levels2
postsynaptic specialization membrane2
calcium channel activity2
metal ion transport1
action potential1
cell communication1
chemical synaptic transmission1
nervous system process1
regulation of RNA stability1
regulation of mRNA catabolic process1
synaptic transmission, glutamatergic1
positive regulation of synaptic transmission1
regulation of synaptic transmission, glutamatergic1
neurotransmitter receptor diffusion trapping1
protein-containing complex localization1
protein localization to postsynaptic specialization membrane1
positive regulation of cell growth1
positive regulation of developmental growth1
dendrite extension1
regulation of dendrite extension1
AMPA glutamate receptor activity1
regulation of transmembrane transporter activity1
regulation of neurotransmitter receptor activity1
transport1
monoatomic ion transport1
transmembrane transport1
calcium ion transport1
monoatomic cation transmembrane transport1
voltage-gated monoatomic cation channel activity1
ion channel regulator activity1
channel activity1
transporter regulator activity1
monoatomic cation channel activity1
calcium ion transmembrane transporter activity1
binding1
endosome1
membrane1
cell periphery1

Protein interactions and networks

STRING

2128 interactions, top by confidence (×1000):

Protein AProtein BPartner UniProtScore
CACNG7CACNG1Q06432917
CACNG7PRKCGP05129802
CACNG7CACNA1DQ01668783
CACNG7CACNB1Q02641751
CACNG7DLG4P78352650
CACNG7CACNA2D2Q9NY47645
CACNG7CACNA2D1P54289644
CACNG7CACNA1EQ15878543
CACNG7CNIH2Q6PI25520
CACNG7CACNA1GO43497512
CACNG7CACNA1BQ00975500
CACNG7CNIH4Q9P003477
CACNG7CACNG4Q9UBN1475
CACNG7AVPI1Q5T686464
CACNG7ELOCQ15369461

IntAct

5 interactions, top by confidence:

ABTypeScore
CACNG7SPACA1psi-mi:“MI:0915”(physical association)0.560
CACNG7PLD2psi-mi:“MI:0914”(association)0.350
CACNG7SPACA1psi-mi:“MI:0915”(physical association)0.000

BioGRID (19): SPACA1 (Two-hybrid), SLC25A4 (Affinity Capture-MS), TSPYL1 (Affinity Capture-MS), RAB29 (Affinity Capture-MS), CYBA (Affinity Capture-MS), HLA-DRB1 (Affinity Capture-MS), FBXL6 (Affinity Capture-MS), ACSL1 (Affinity Capture-MS), SLC25A6 (Affinity Capture-MS), IQSEC1 (Affinity Capture-MS), HSPA5 (Affinity Capture-MS), KIRREL (Affinity Capture-MS), FUT8 (Affinity Capture-MS), SAMM50 (Affinity Capture-MS), SLC38A5 (Affinity Capture-MS)

ESM2 similar proteins: A2AIR5, A5PK40, A6NFX1, B9EKX1, D2HKB0, D3ZG27, F1NCD6, O60242, P23979, P46098, P62955, P62956, P62957, Q08DW9, Q0VBU9, Q13635, Q14B62, Q3T9X0, Q4R766, Q504N2, Q5H8A4, Q5RB09, Q5RIV7, Q5T4D3, Q5VTY9, Q5VYX0, Q5VZY2, Q5ZIN0, Q61115, Q66H95, Q6AYT7, Q6ZW05, Q80ZF8, Q8BG19, Q8BWB6, Q8IZD6, Q8N2K0, Q8N6M3, Q8NEB5, Q8NHX9

Diamond homologs: O60359, O88602, P62955, P62956, P62957, Q0VD05, Q4R589, Q5R5X2, Q71RJ2, Q8VHW2, Q8VHW4, Q8VHW5, Q8VHW8, Q8VHW9, Q8VHX0, Q8WXS5, Q9JJV4, Q9JJV5, Q9UBN1, Q9UF02, Q9Y698

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

ClassificationCount (floor)
Pathogenic0
Likely pathogenic1
Uncertain significance37
Likely benign0
Benign0

Top pathogenic / likely-pathogenic (1)

Variant IDHGVSClassification
996577NM_031896.5(CACNG7):c.784A>G (p.Ile262Val)Likely pathogenic

SpliceAI

1123 predictions. Top by Δscore:

VariantEffectΔscore
19:53909516:AGGTG:Adonor_loss1.0000
19:53909518:G:GAdonor_loss1.0000
19:53913009:C:Tdonor_gain1.0000
19:53913025:CAGGT:Cdonor_loss1.0000
19:53913027:GG:Gdonor_loss1.0000
19:53913028:GTA:Gdonor_loss1.0000
19:53913029:T:Adonor_loss1.0000
19:53914583:C:Gdonor_gain1.0000
19:53914585:GA:Gdonor_gain1.0000
19:53914587:G:GGdonor_gain1.0000
19:53915363:A:AGacceptor_gain1.0000
19:53915364:G:GGacceptor_gain1.0000
19:53915364:GA:Gacceptor_gain1.0000
19:53915504:GG:Gdonor_gain1.0000
19:53915505:GG:Gdonor_gain1.0000
19:53915506:G:GCdonor_loss1.0000
19:53915506:G:GGdonor_gain1.0000
19:53915507:T:Gdonor_loss1.0000
19:53942031:CGCAG:Cacceptor_loss1.0000
19:53942032:GCAGG:Gacceptor_loss1.0000
19:53942034:A:AGacceptor_gain1.0000
19:53942034:AG:Aacceptor_gain1.0000
19:53942034:AGG:Aacceptor_gain1.0000
19:53942035:G:GGacceptor_gain1.0000
19:53942035:GG:Gacceptor_gain1.0000
19:53942035:GGG:Gacceptor_gain1.0000
19:53909513:GCGAG:Gdonor_gain0.9900
19:53912801:A:AGacceptor_gain0.9900
19:53912802:G:GAacceptor_loss0.9900
19:53912802:G:GGacceptor_gain0.9900

AlphaMissense

1806 scored. Top likely-pathogenic:

VariantProtein changeam_pathogenicity
19:53914517:T:AC72S1.000
19:53914518:G:CC72S1.000
19:53915400:A:CS107R1.000
19:53915402:C:AS107R1.000
19:53915402:C:GS107R1.000
19:53915484:G:CG135R1.000
19:53915485:G:AG135D1.000
19:53915497:T:AI139K1.000
19:53915505:G:CG142R1.000
19:53941487:G:CG148R1.000
19:53942043:G:AG193D1.000
19:53912868:A:CS13R0.999
19:53912870:C:AS13R0.999
19:53912870:C:GS13R0.999
19:53912881:G:AG17D0.999
19:53912889:G:CG20R0.999
19:53912904:G:CG25R0.999
19:53912911:C:AA27E0.999
19:53912916:A:CS29R0.999
19:53912918:C:AS29R0.999
19:53912918:C:GS29R0.999
19:53912920:C:TT30I0.999
19:53912923:A:TD31V0.999
19:53912928:T:AW33R0.999
19:53912928:T:CW33R0.999
19:53912930:G:CW33C0.999
19:53912930:G:TW33C0.999
19:53912932:T:CL34P0.999
19:53913000:G:CG57R0.999
19:53913000:G:TG57C0.999

dbSNP variants (sampled 300 via entrez): RS1000073509 (19:53928600 T>C), RS1000133518 (19:53913697 T>A,C), RS1000140909 (19:53926092 T>C), RS1000164686 (19:53918849 A>C,G), RS1000195198 (19:53925900 C>T), RS1000209109 (19:53916193 G>A), RS1000247390 (19:53925726 G>A,C,T), RS1000309496 (19:53913129 G>A,C), RS1000398555 (19:53931135 G>A,T), RS1000646668 (19:53911715 G>A,T), RS1000680830 (19:53929934 T>C), RS1000829273 (19:53917313 T>C), RS1000841551 (19:53936938 C>G), RS1000874020 (19:53936758 A>G), RS1000891901 (19:53918684 C>T)

Disease associations

OMIM: gene MIM:606899 | disease phenotypes:

GenCC curated gene-disease

Mondo (1): intellectual disability (MONDO:0001071)

Orphanet (1): NON RARE IN EUROPE: Unexplained intellectual disability (Orphanet:319658)

HPO phenotypes

0 total (0 of 0 shown, HPO-id order):

GWAS associations

0 associations (top):

MeSH disease descriptors (1)

DescriptorNameTree numbers
D008607Intellectual DisabilityC10.597.606.360; C23.888.592.604.646; F01.700.687; F03.625.539

Drugs & pharmacology

Drug and pharmacology data

Is drug target: yes

ChEMBL targets (1): CHEMBL2363032 (PROTEIN COMPLEX GROUP)

Molecules with ChEMBL bioactivity

2 molecules (phase ≥1), by development phase (incl. off-target/promiscuous compounds). Patent mentions across the top 20 by phase: 67,947 (via chembl_molecule»patent_compound — counts attach to the compound, not the gene–compound relationship, so off-target/promiscuous molecules can dominate).

MoleculeNamePhasePatents
CHEMBL1428NIMODIPINE432,587
CHEMBL95TACRINE435,360

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

ChEMBL bioactivities

58 potent at pChembl≥5 of 75 total, top 50 by pChembl (potency: 10 = 0.1 nM, 6 = 1 µM).

pChemblTypeValueUnitMolecule
8.82IC501.5nMCHEMBL3891844
8.72IC501.9nMCHEMBL3890624
8.62IC502.4nMCHEMBL3973392
8.57IC502.7nMCHEMBL3891844
8.52IC503nMCHEMBL3919024
8.51IC503.1nMCHEMBL3919898
8.35IC504.5nMCHEMBL3965812
8.23IC505.9nMCHEMBL3906126
8.22IC506nMCHEMBL3890916
8.15IC507nMCHEMBL3940577
8.14IC507.2nMCHEMBL3969562
8.12IC507.6nMCHEMBL3937280
8.12IC507.6nMCHEMBL3965812
8.10IC508nMCHEMBL3983323
8.05IC509nMCHEMBL3942512
8.03IC509.4nMCHEMBL3922498
8.01IC509.7nMCHEMBL3897303
7.96IC5011nMCHEMBL3948329
7.92IC5012nMCHEMBL3898359
7.85IC5014nMCHEMBL3911369
7.85IC5014nMCHEMBL3913505
7.85IC5014nMCHEMBL3936725
7.82IC5015nMCHEMBL3984596
7.82IC5015nMCHEMBL3902376
7.67IC5021.5nMCHEMBL3952905
7.62IC5024nMCHEMBL3972896
7.58IC5026nMCHEMBL3889804
7.55IC5028nMCHEMBL3958844
7.55IC5028nMCHEMBL3973382
7.52IC5030nMCHEMBL3978200
7.52IC5030nMCHEMBL3985660
7.51IC5031nMCHEMBL3896861
7.51IC5031nMCHEMBL3951956
7.50IC5031.4nMCHEMBL3962403
7.44IC5036nMCHEMBL3953976
7.44IC5036nMCHEMBL3925140
7.41IC5039nMCHEMBL3900691
7.39IC5041nMCHEMBL3930781
7.30IC5050nMCHEMBL3921840
7.21IC5062nMCHEMBL3956991
7.17IC5067nMCHEMBL3965293
7.09IC5081nMCHEMBL3958264
7.07IC5085nMCHEMBL3964411
7.01IC5098.5nMCHEMBL3953031
6.40IC50400nMCHEMBL3974355
6.10IC50800nMCHEMBL3734797
5.75IC501800nMCHEMBL4228929
5.66IC502200nMCHEMBL4226021
5.52IC503000nMCHEMBL4228209
5.52IC503000nMCHEMBL4224773

PubChem BioAssay actives

13 with measured affinity, of 101 total; 13 most potent distinct compounds. Largely complementary to BindingDB; screening values are coarse (µM, 4 dp), so sub-nM hits tie at the floor.

CompoundAssayTypeValueUnit
N-tert-butyl-8-[[[(1S,2S)-2-(3-methyl-1,2,4-oxadiazol-5-yl)cyclopropanecarbonyl]amino]methyl]-5-[3-(trifluoromethoxy)phenyl]-3,4-dihydro-1H-isoquinoline-2-carboxamide1262825: Inhibition of voltage-gated calcium channel (unknown origin)ic500.8000uM
5-methyl-1-[(2-nitrophenyl)methyl]-3-(piperidin-1-ylmethyl)indole1392176: Inhibition of KCl-induced cytosolic voltage gated calcium channel opening in human SH-SY5Y cells by Fluo-4 AM dye based fluorescence assayic501.8000uM
1-[(3-chlorophenyl)methyl]-5-methyl-3-(piperidin-1-ylmethyl)indole1392176: Inhibition of KCl-induced cytosolic voltage gated calcium channel opening in human SH-SY5Y cells by Fluo-4 AM dye based fluorescence assayic502.2000uM
5-methyl-1-[(3-nitrophenyl)methyl]-3-(piperidin-1-ylmethyl)indole1392176: Inhibition of KCl-induced cytosolic voltage gated calcium channel opening in human SH-SY5Y cells by Fluo-4 AM dye based fluorescence assayic503.0000uM
1-[(4-chlorophenyl)methyl]-5-methyl-3-(piperidin-1-ylmethyl)indole1392176: Inhibition of KCl-induced cytosolic voltage gated calcium channel opening in human SH-SY5Y cells by Fluo-4 AM dye based fluorescence assayic503.0000uM
1-benzyl-5-methyl-3-(piperidin-1-ylmethyl)indole1392176: Inhibition of KCl-induced cytosolic voltage gated calcium channel opening in human SH-SY5Y cells by Fluo-4 AM dye based fluorescence assayic503.4000uM
5-methyl-1-[(4-methylphenyl)methyl]-3-(piperidin-1-ylmethyl)indole1392176: Inhibition of KCl-induced cytosolic voltage gated calcium channel opening in human SH-SY5Y cells by Fluo-4 AM dye based fluorescence assayic503.6000uM
1-[(4-fluorophenyl)methyl]-5-methyl-3-(piperidin-1-ylmethyl)indole1392176: Inhibition of KCl-induced cytosolic voltage gated calcium channel opening in human SH-SY5Y cells by Fluo-4 AM dye based fluorescence assayic504.8000uM
N-heptyl-16,18-dioxo-17-azapentacyclo[6.6.5.02,7.09,14.015,19]nonadeca-2,4,6,9,11,13-hexaene-1-carboxamide1612587: Inhibition of K+-induced voltage gated calcium channel opening in human SH-SY5Y cells assessed as decrease in Ca2+ level after 10 mins by Fluo-4 dye-based fluorescence assayic509.0000uM
ethyl 5-amino-4-(3-methoxyphenyl)-2-methyl-7,8,9,10-tetrahydro-6H-cyclohepta[b][1,8]naphthyridine-3-carboxylate1653244: Inhibition of VGCC (unknown origin)ic509.0000uM
ethyl 5-amino-4-(3,4-dimethoxyphenyl)-2-methyl-7,8,9,10-tetrahydro-6H-cyclohepta[b][1,8]naphthyridine-3-carboxylate1653244: Inhibition of VGCC (unknown origin)ic509.0000uM
propan-2-yl 5-amino-2-methyl-4-phenyl-6,7,8,9-tetrahydrobenzo[b][1,8]naphthyridine-3-carboxylate1653244: Inhibition of VGCC (unknown origin)ic5010.0000uM
ethyl 5-amino-2-methyl-4-phenyl-6,7,8,9,10,11-hexahydrocycloocta[b][1,8]naphthyridine-3-carboxylate1653244: Inhibition of VGCC (unknown origin)ic5010.0000uM

CTD chemical–gene interactions

17 total (human), top 17 by PubMed support.

ChemicalActions (top 5)PubMed papers
propionaldehydeincreases expression1
pirinixic acidaffects binding, increases activity, increases expression1
ethyl-p-hydroxybenzoatedecreases expression1
butyraldehydeincreases expression1
pentanalincreases expression1
CGP 52608affects binding, increases reaction1
abrinedecreases expression1
jinfukangincreases expression1
Resveratrolaffects cotreatment, decreases expression1
Arbutindecreases expression1
Benzo(a)pyreneaffects methylation1
Diethylhexyl Phthalatedecreases expression1
Plant Extractsdecreases expression, affects cotreatment1
Silicon Dioxideincreases expression1
Dronabinolincreases expression1
Aflatoxin B1decreases methylation1
Acrylamidedecreases expression1

ChEMBL screening assays

13 unique, capped per target: 13 binding

Representative assays (with source publication via chembl_document):

Assay IDTypeDescriptionSource paper
CHEMBL3737861BindingInhibition of voltage-gated calcium channel (unknown origin)Discovery and Pharmacology of a Novel Class of Diacylglycerol Acyltransferase 2 Inhibitors. — J Med Chem

Cellosaurus cell lines

2 cell lines: 1 cancer cell line, 1 transformed cell line

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

CellosaurusNameCategorySex
CVCL_D7LGUbigene A-549 CACNG7 KOCancer cell lineMale
CVCL_YA31IDG-HEK293T-CACNG7-V5-OETransformed cell lineFemale

Clinical trials (associated diseases)

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

TrialPhaseStatusTitle
NCT05657860PHASE4COMPLETEDGuanfacine Extended Release for the Reduction of Aggression and Self-injurious Behavior Associated With Prader-Willi Syndrome
NCT05744479PHASE4RECRUITINGMetformin for Antipsychotic-induced Weight Gain in Adults With Intellectual Disability
NCT06107829PHASE4WITHDRAWNValbenazine Treatment of Tardive Dyskinesia in Adults With Intellectual/Developmental Disabilities
NCT06997198PHASE4NOT_YET_RECRUITINGDeutetrabenazine Treatment for Tardive Dyskinesia in Intellectual/Developmental Disabilities
NCT02270736PHASE3COMPLETEDClinical 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
NCT02304302PHASE2COMPLETEDDown Syndrome Memantine Follow-up Study
NCT03862950PHASE2COMPLETEDA Trial of Metformin in Individuals With Fragile X Syndrome (Met)
NCT04529226PHASE2UNKNOWNStudy to Compare Clozapine vs Treatment as Usual in People With Intellectual Disability & Treatment-resistant Psychosis
NCT04821856PHASE2COMPLETEDEvaluation of the Effectiveness of Cannabidiol in Treating Severe Behavioural Problems in Children and Adolescents With Intellectual Disability
NCT05273320PHASE1COMPLETEDClinical Trial of Nabilone for Aggression in Adults With Intellectual and Developmental Disabilities
NCT05301361PHASE1ENROLLING_BY_INVITATIONSensitivity of the NIH Toolbox to Stimulant Treatment in Intellectual Disabilities
NCT06016764PHASE1COMPLETEDUse of MRI and cTBS for Catatonia in Autism
NCT06586827PHASE1COMPLETEDImpact of Competency-Based Training and Technical Assistance Employment Outcomes of Individuals With ID/DD
NCT07531940PHASE1NOT_YET_RECRUITINGEscalating Doses of Memantine in Down Syndrome (MEDS-123)
NCT03479476PHASE2/PHASE3COMPLETEDA Trial of Metformin in Individuals With Fragile X Syndrome
NCT02616796PHASE1/PHASE2COMPLETEDEffects of Social Gaze Training on Brain and Behavior in Fragile X Syndrome
NCT06860672EARLY_PHASE1RECRUITINGClinical Trial of the Dual Vector Base Editor for the Treatment of the CHD3-R1025W Mutation
NCT00597948Not specifiedCOMPLETEDHealthy Lifestyles for People With Intellectual Disabilities
NCT01087320Not specifiedRECRUITINGGenome Medical Sequencing for Gene Discovery
NCT01652963Not specifiedUNKNOWNPicture-based Computerised Assessment and Training of Cognitive Behaviour Therapy Skills
NCT01695395Not specifiedCOMPLETEDMental Health Care Provision for Adults With Intellectual Disability and a Mental Disorder
NCT01867554Not specifiedCOMPLETEDResearch and Characterization of New Genes Involved in Intellectual Disability
NCT01915381Not specifiedCOMPLETEDImproving Adherence Healthy Lifestyle With a Smartphone Application Based on Adults With Intellectual Disabilities
NCT01988623Not specifiedCOMPLETEDPivotal Response Treatment for Individuals With Intellectual Disabilities
NCT02099773Not specifiedCOMPLETEDSupport Staff-client Interactions With Augmentative and Alternative Communication
NCT02136849Not specifiedCOMPLETEDInter-regional Project of the Great Western Exploration Approach for Exome Molecular Causes Severe Intellectual Disability Isolated or Syndromic
NCT02225041Not specifiedCOMPLETEDSedation Strategy and Cognitive Outcome After Critical Illness in Early Childhood
NCT02414438Not specifiedCOMPLETEDEstablishing the Clinical Utility of First StepDx PLUS and NextStepDx PLUS Study
NCT02451761Not specifiedCOMPLETEDApparently Balanced Chromosomal Translocation/ Next-generation Sequencing/ Intellectual Disability
NCT02461420Not specifiedACTIVE_NOT_RECRUITINGMapping the Genotype, Phenotype, and Natural History of Phelan-McDermid Syndrome
NCT02461459Not specifiedACTIVE_NOT_RECRUITINGAutism Spectrum Disorder (ASD) and Intellectual Disability (ID) Determinants in Tuberous Sclerosis Complex (TSC)
NCT02486081Not specifiedCOMPLETEDDevelopment and Application-Smart Football for Movement Evaluation and Training in the Special Education Population
NCT02504502Not specifiedCOMPLETEDEnhancing Genomic Laboratory Reports to Enhance Communication and Empower Patients
NCT02513277Not specifiedCOMPLETEDDiabetes Screening & Prevention for People With Learning (Intellectual) Disabilities:STOP Diabetes Study
NCT02561754Not specifiedCOMPLETEDWeight Management for Adolescents With IDD
NCT02591446Not specifiedCOMPLETEDTranscranial Magnetic Stimulation Studies in Autism Spectrum Disorders
NCT02714868Not specifiedCOMPLETEDEvaluation of Project TEAM (Teens Making Environmental and Activity Modifications)
NCT02721394Not specifiedUNKNOWNFCT With Young Children With ID in the UK: A Feasibility Project V.1
NCT02746614Not specifiedCOMPLETEDPsychomotor Therapy Effects in Adaptive Behavior and Motor Proficiency in Intellectual Disability
NCT02836405Not specifiedCOMPLETEDTMS for the Investigation of Brain Plasticity in Autism Spectrum Disorders

No linked Atlas pages yet — the cross-entity mesh grows as the corpus expands.