CTTNBP2

Summary

CTTNBP2 (cortactin binding protein 2, HGNC:15679) is a protein-coding gene on chromosome 7q31.31, encoding Cortactin-binding protein 2 (Q8WZ74). Regulates the dendritic spine distribution of CTTN/cortactin in hippocampal neurons, and thus controls dendritic spinogenesis and dendritic spine maintenance.

This gene encodes a protein with six ankyrin repeats and several proline-rich regions. A similar gene in rat interacts with a central regulator of the actin cytoskeleton.

Source: NCBI Gene 83992 — RefSeq curated summary.

At a glance

• Gene–disease (curated): autism spectrum disorder (Limited, GenCC)
• GWAS associations: 30
• Clinical variants (ClinVar): 183 total
• MANE Select transcript: NM_033427

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:15679
Approved symbol	CTTNBP2
Name	cortactin binding protein 2
Location	7q31.31
Locus type	gene with protein product
Status	Approved
Aliases	KIAA1758, Orf4
Ensembl gene	ENSG00000077063
Ensembl biotype	protein_coding
OMIM	609772
Entrez	83992

Gene structure

Transcript identifiers

Ensembl transcripts: 12 — 7 protein_coding, 2 nonsense_mediated_decay, 2 retained_intron, 1 protein_coding_CDS_not_defined

ENST00000160373, ENST00000412853, ENST00000416239, ENST00000434890, ENST00000435233, ENST00000441556, ENST00000445366, ENST00000446636, ENST00000454375, ENST00000467088, ENST00000482124, ENST00000487820

RefSeq mRNA: 4 — MANE Select: NM_033427 NM_001363349, NM_001363350, NM_001363351, NM_033427

CCDS: CCDS5774

Canonical transcript exons

ENST00000160373 — 23 exons

Exon	Start	End
ENSE00000718805	117810765	117810989
ENSE00001129762	117710651	117711782
ENSE00001220198	117873335	117873441
ENSE00001308675	117791128	117792781
ENSE00003460727	117721067	117721130
ENSE00003465088	117718018	117718119
ENSE00003485751	117724547	117724732
ENSE00003522965	117777511	117777765
ENSE00003530766	117719504	117719636
ENSE00003538197	117725052	117725257
ENSE00003542069	117756555	117756634
ENSE00003548878	117757875	117757970
ENSE00003550290	117735269	117735421
ENSE00003551829	117734913	117735100
ENSE00003576753	117780441	117780591
ENSE00003577679	117760435	117760710
ENSE00003578236	117784251	117784454
ENSE00003598399	117767059	117767176
ENSE00003633925	117861209	117861316
ENSE00003670097	117746013	117746099
ENSE00003679492	117745831	117745930
ENSE00003687761	117728089	117728267
ENSE00003691485	117782862	117782961

Expression profiles

Bgee: expression breadth ubiquitous, 230 present calls, max score 97.56.

FANTOM5 (CAGE): breadth broad, TPM avg 5.3681 / max 316.4915, expressed in 611 samples.

FANTOM5 promoters (9 alternative TSS)

Promoter ID	TPM avg	Samples expressed
85855	2.8839	441
85857	1.7048	463
85852	0.3165	64
85858	0.1756	90
85853	0.1071	35
85856	0.0777	35
85859	0.0424	14
85851	0.0396	18
85854	0.0206	6

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
cortical plate	UBERON:0005343	97.56	gold quality
corpus callosum	UBERON:0002336	92.80	gold quality
embryo	UBERON:0000922	92.11	gold quality
ganglionic eminence	UBERON:0004023	92.11	gold quality
subthalamic nucleus	UBERON:0001906	91.76	gold quality
inferior vagus X ganglion	UBERON:0005363	91.05	gold quality
substantia nigra pars reticulata	UBERON:0001966	89.64	gold quality
dorsal plus ventral thalamus	UBERON:0001897	89.58	gold quality
lateral nuclear group of thalamus	UBERON:0002736	89.30	gold quality
primary visual cortex	UBERON:0002436	87.96	gold quality
occipital lobe	UBERON:0002021	87.71	gold quality
endothelial cell	CL:0000115	87.21	gold quality
lateral globus pallidus	UBERON:0002476	87.20	gold quality
C1 segment of cervical spinal cord	UBERON:0006469	87.03	gold quality
spinal cord	UBERON:0002240	86.97	gold quality
medulla oblongata	UBERON:0001896	86.82	gold quality
germinal epithelium of ovary	UBERON:0001304	86.68	gold quality
caudate nucleus	UBERON:0001873	86.30	gold quality
substantia nigra pars compacta	UBERON:0001965	86.28	gold quality
ventricular zone	UBERON:0003053	86.26	gold quality
oviduct epithelium	UBERON:0004804	86.19	gold quality
midbrain	UBERON:0001891	85.77	gold quality
substantia nigra	UBERON:0002038	85.76	gold quality
putamen	UBERON:0001874	85.74	gold quality
Brodmann (1909) area 23	UBERON:0013554	85.71	gold quality
Ammon’s horn	UBERON:0001954	85.57	gold quality
postcentral gyrus	UBERON:0002581	85.19	gold quality
superior vestibular nucleus	UBERON:0007227	85.17	gold quality
parietal lobe	UBERON:0001872	84.86	gold quality
layer of synovial tissue	UBERON:0007616	84.83	gold quality

Single-cell (SCXA)

Detected in 4 experiment(s), a significant marker in 3.

Experiment	Marker?	Max mean expression
E-HCAD-5	yes	44.98
E-CURD-119	yes	25.17
E-ANND-3	yes	13.16
E-GEOD-81383	no	119.75

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

122 targeting CTTNBP2, 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-340-5P	100.00	72.50	4437
HSA-MIR-3163	100.00	77.23	8605
HSA-MIR-5011-5P	100.00	83.46	5820
HSA-MIR-656-3P	100.00	72.15	2788
HSA-MIR-4262	100.00	73.26	3931
HSA-MIR-3613-3P	100.00	76.36	7965
HSA-MIR-181A-5P	99.99	72.96	2995
HSA-MIR-181B-5P	99.99	72.97	2996
HSA-MIR-181C-5P	99.99	72.95	2996
HSA-MIR-181D-5P	99.99	73.04	2997
HSA-MIR-4482-3P	99.98	72.50	3147
HSA-MIR-4803	99.98	71.99	3117
HSA-MIR-520D-5P	99.98	73.34	4883
HSA-MIR-524-5P	99.98	73.43	4882
HSA-MIR-32-5P	99.98	75.21	1964
HSA-MIR-92A-3P	99.98	75.21	1960
HSA-MIR-92B-3P	99.98	75.25	1955
HSA-MIR-25-3P	99.98	74.60	1817
HSA-MIR-363-3P	99.98	74.72	1821
HSA-MIR-367-3P	99.98	74.83	1819
HSA-MIR-548P	99.98	72.25	3784
HSA-MIR-5696	99.98	72.36	4487
HSA-LET-7F-2-3P	99.98	70.98	2588
HSA-MIR-1185-1-3P	99.98	71.04	2593
HSA-MIR-1185-2-3P	99.98	71.04	2593
HSA-MIR-4775	99.98	75.00	6394
HSA-MIR-3688-3P	99.97	72.02	2834
HSA-MIR-3148	99.97	75.06	6478
HSA-MIR-1468-3P	99.96	72.74	3797
HSA-MIR-590-3P	99.96	74.34	6478

Literature-anchored findings (GeneRIF, showing 2)

• CORTBP2 (CTTNBP2) has a transcription-dependent spatial arrangement. (PMID:15364959)
• Cttnbp2 increases microtubule stability and regulates dendritic arborization. (PMID:24928895)

Cross-species orthologs

3 orthologs

Organism	Symbol	Gene ID
danio_rerio	cttnbp2	ENSDARG00000040991
mus_musculus	Cttnbp2	ENSMUSG00000000416
rattus_norvegicus	Cttnbp2	ENSRNOG00000061845

Paralogs (4): TANC1 (ENSG00000115183), TANC2 (ENSG00000170921), ANKRD63 (ENSG00000230778), ANKRD65 (ENSG00000235098)

Protein

Protein identifiers

Cortactin-binding protein 2 — Q8WZ74 (reviewed: Q8WZ74)

All UniProt accessions (10): Q8WZ74, C9J720, C9JFC9, C9JVQ6, F8WB16, H0Y448, H7BZH0, H7C0N3, H7C2I0, Q20BG9

UniProt curated annotations — full annotation on UniProt →

Function. Regulates the dendritic spine distribution of CTTN/cortactin in hippocampal neurons, and thus controls dendritic spinogenesis and dendritic spine maintenance. Associates with the striatin-interacting phosphatase and kinase (STRIPAK) core complex to regulate dendritic spine distribution of the STRIPAK complex in hippocampal neurons.

Subunit / interactions. Interacts with CTTN/cortactin SH3 domain. Interacts with STRN, STRN4/zinedin and MOB4/phocein; this interactions mediate the association with the STRIPAK core complex and may regulate dendritic spine distribution of the STRIPAK complex in hippocampal neurons. Activation of glutamate receptors weakens the interaction with STRN and STRN4.

Subcellular location. Cytoplasm. Cell cortex. Cell projection. Dendritic spine.

Tissue specificity. Highest expression in brain. Also expressed in kidney, pancreas, lung, heart, liver, skeletal muscle and placenta.

RefSeq proteins (4): NP_001350278, NP_001350279, NP_001350280, NP_219499* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR002110	Ankyrin_rpt	Repeat
IPR019131	Cortactin-binding_p2_N	Domain
IPR036770	Ankyrin_rpt-contain_sf	Homologous_superfamily
IPR050719	Cortactin-Actin_Reg	Family
IPR057568	CortBP2_NAV1-like_AAA_lid	Domain

Pfam: PF00023, PF09727, PF12796, PF25408

UniProt features (25 total): region of interest 7, repeat 6, compositionally biased region 6, modified residue 2, sequence variant 2, chain 1, coiled-coil region 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q8WZ74-F1	58.83	0.06

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): 498, 1524

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 166 (showing top): GSE45365_NK_CELL_VS_CD11B_DC_UP, GGGACCA_MIR133A_MIR133B, MIDORIKAWA_AMPLIFIED_IN_LIVER_CANCER, AAGCCAT_MIR135A_MIR135B, GOBP_CELL_JUNCTION_ORGANIZATION, SCHAEFFER_PROSTATE_DEVELOPMENT_48HR_DN, GOBP_REGULATION_OF_SYNAPSE_STRUCTURE_OR_ACTIVITY, GOCC_NEURON_PROJECTION, ZHANG_BREAST_CANCER_PROGENITORS_UP, CUI_TCF21_TARGETS_2_DN, RIGGI_EWING_SARCOMA_PROGENITOR_UP, GOCC_EXOCYTIC_VESICLE, GOCC_SECRETORY_VESICLE, GOCC_POSTSYNAPSE, GOCC_NEURON_SPINE

GO Biological Process (2): regulation of synapse organization (GO:0050807), regulation of modification of postsynaptic actin cytoskeleton (GO:1905274)

GO Molecular Function (2): SH3 domain binding (GO:0017124), protein binding (GO:0005515)

GO Cellular Component (9): cell cortex (GO:0005938), synaptic vesicle (GO:0008021), dendritic spine (GO:0043197), FAR/SIN/STRIPAK complex (GO:0090443), postsynaptic actin cytoskeleton (GO:0098871), glutamatergic synapse (GO:0098978), cytoplasm (GO:0005737), cell projection (GO:0042995), synapse (GO:0045202)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
postsynapse	2
cellular anatomical structure	2
regulation of synapse structure or activity	1
synapse organization	1
regulation of cellular component organization	1
modification of postsynaptic actin cytoskeleton	1
regulation of modification of postsynaptic structure	1
protein domain specific binding	1
binding	1
cytoplasm	1
cell periphery	1
exocytic vesicle	1
presynapse	1
dendrite	1
neuron spine	1
protein-containing complex	1
actin cytoskeleton	1
postsynaptic cytoskeleton	1
synapse	1
intracellular anatomical structure	1
cell junction	1

Protein interactions and networks

STRING

926 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
CTTNBP2	HCLS1	P14317	976
CTTNBP2	CTTN	Q14247	973
CTTNBP2	CWC15	Q9P013	910
CTTNBP2	STRIP1	Q5VSL9	778
CTTNBP2	FAM3B	P58499	771
CTTNBP2	SLMAP	Q14BN4	766
CTTNBP2	STRN3	Q13033	711
CTTNBP2	KCND2	Q9NZV8	683
CTTNBP2	STRIP2	Q9ULQ0	669
CTTNBP2	SIKE1	Q9BRV8	639
CTTNBP2	STRN	O43815	618
CTTNBP2	ASZ1	Q8WWH4	616
CTTNBP2	DNAJC28	Q9NX36	605
CTTNBP2	FAM120C	Q9NX05	593
CTTNBP2	CFTR	P13569	588

IntAct

77 interactions, top by confidence:

A	B	Type	Score
PDCD10	STK25	psi-mi:“MI:0914”(association)	0.980
STK25	STRN	psi-mi:“MI:0914”(association)	0.900
STK24	STK25	psi-mi:“MI:0914”(association)	0.890
PPP2R1A	STRN	psi-mi:“MI:0914”(association)	0.880
PPP2R1A	STRN	psi-mi:“MI:2364”(proximity)	0.880
STRN3	STK25	psi-mi:“MI:0914”(association)	0.880
STRN3	STRN	psi-mi:“MI:0914”(association)	0.880
STK24	STRN	psi-mi:“MI:0914”(association)	0.870
STRIP1	PPP2CB	psi-mi:“MI:0914”(association)	0.870
STK26	STRN	psi-mi:“MI:0914”(association)	0.860
PRDM14	CBFA2T2	psi-mi:“MI:0914”(association)	0.860
PPP2CA	STRN	psi-mi:“MI:0914”(association)	0.840
CTTNBP2NL	STRN	psi-mi:“MI:2364”(proximity)	0.820
PPP2CB	STRN	psi-mi:“MI:0914”(association)	0.790
MOB4	STRN	psi-mi:“MI:0914”(association)	0.790
STK26	STK25	psi-mi:“MI:0914”(association)	0.790
MOB4	STK25	psi-mi:“MI:0914”(association)	0.730
DYNLL1	BLTP3B	psi-mi:“MI:0914”(association)	0.730
PPP2CB	CEP43	psi-mi:“MI:0914”(association)	0.730
PRDM14	CBFA2T2	psi-mi:“MI:0914”(association)	0.670
CTTNBP2	STK25	psi-mi:“MI:0914”(association)	0.640

BioGRID (85): CTTNBP2 (Affinity Capture-MS), CTTNBP2 (Affinity Capture-MS), CTTNBP2 (Affinity Capture-MS), CTTNBP2 (Affinity Capture-MS), CTTNBP2 (Synthetic Lethality), CTTNBP2 (Affinity Capture-MS), CTTNBP2 (Affinity Capture-MS), CTTNBP2 (Affinity Capture-MS), CTTNBP2 (Affinity Capture-MS), CTTNBP2 (Proximity Label-MS), CTTNBP2 (Affinity Capture-MS), CTTNBP2 (Affinity Capture-MS), CTTNBP2 (Affinity Capture-RNA), CTTNBP2 (Two-hybrid), FAM86C1 (Two-hybrid)

ESM2 similar proteins: A0A8I3PDQ1, A0M8S4, A0M8T5, A5GFW5, B6RSP1, B9EJA2, D4A039, E9Q0S6, O00750, O35177, Q00PJ1, Q07DV1, Q07DW4, Q07DX4, Q07DY4, Q07E15, Q07E28, Q07E41, Q08EC4, Q09YG9, Q09YI1, Q09YK4, Q09YM8, Q108T9, Q14511, Q155Q3, Q2IBA2, Q2IBB2, Q2IBD4, Q2IBE6, Q2IBF7, Q2QL82, Q2QLA2, Q2QLB3, Q2QLF8, Q2QLG9, Q2VUH7, Q3UIL6, Q5JV73, Q61140

Diamond homologs: A0M8S4, A0M8T5, A1X157, B9EJA2, Q00PJ1, Q07DV1, Q07DW4, Q07DX4, Q07DY4, Q07DZ5, Q07E15, Q07E28, Q07E41, Q09YG9, Q09YI1, Q09YJ3, Q09YK4, Q09YM8, Q108T9, Q2IBA2, Q2IBB2, Q2IBD4, Q2IBE6, Q2IBF7, Q2IBF8, Q2QL82, Q2QLA2, Q2QLB3, Q2QLF8, Q2QLG9, Q4L180, Q5RDH2, Q6P6L0, Q8SX68, Q8WZ74, Q99LJ0, Q9P2B4, Q8IVL1, Q6GNY1, Q804S5

SIGNOR signaling

2 interactions.

A	Effect	B	Mechanism
CTTNBP2	“up-regulates activity”	SHANK3	binding
CTTNBP2	“up-regulates activity”	CTTN	binding

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 40 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.

Reactome pathways:

Pathway	Partners	Fold	FDR
Amplification of signal from unattached kinetochores via a MAD2 inhibitory signal	5	25.3×	5e-05
EML4 and NUDC in mitotic spindle formation	5	20.2×	5e-05
Resolution of Sister Chromatid Cohesion	5	18.8×	6e-05
Mitotic Prometaphase	6	18.1×	5e-05
RHO GTPases Activate Formins	5	16.9×	9e-05
Separation of Sister Chromatids	5	13.2×	3e-04

GO biological processes:

GO term	Partners	Fold	FDR
negative regulation of hippo signaling	5	94.9×	4e-07
protein phosphorylation	5	9.2×	7e-03
intracellular signal transduction	8	8.2×	6e-04

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	132
Likely benign	23
Benign	9

Top pathogenic / likely-pathogenic (0)

SpliceAI

4309 predictions. Top by Δscore:

Variant	Effect	Δscore
7:117721065:A:AC	donor_gain	1.0000
7:117721066:C:CC	donor_gain	1.0000
7:117721066:CT:C	donor_gain	1.0000
7:117721066:CTT:C	donor_gain	1.0000
7:117724601:T:TA	donor_gain	1.0000
7:117734927:T:A	donor_gain	1.0000
7:117735097:TTTC:T	acceptor_gain	1.0000
7:117735100:CCT:C	acceptor_loss	1.0000
7:117735101:CTGA:C	acceptor_loss	1.0000
7:117735102:T:G	acceptor_loss	1.0000
7:117735418:CAAG:C	acceptor_gain	1.0000
7:117735422:C:CC	acceptor_gain	1.0000
7:117736571:T:TA	donor_gain	1.0000
7:117745926:CTGTG:C	acceptor_gain	1.0000
7:117756553:ACCAG:A	donor_gain	1.0000
7:117756554:CCAGC:C	donor_gain	1.0000
7:117757972:T:A	acceptor_loss	1.0000
7:117760409:T:A	donor_gain	1.0000
7:117760413:T:A	donor_gain	1.0000
7:117760438:G:C	donor_gain	1.0000
7:117760457:T:TA	donor_gain	1.0000
7:117767057:A:AC	donor_gain	1.0000
7:117767058:C:CC	donor_gain	1.0000
7:117767058:CT:C	donor_gain	1.0000
7:117777761:CCATC:C	acceptor_gain	1.0000
7:117777762:CATC:C	acceptor_gain	1.0000
7:117777762:CATCC:C	acceptor_gain	1.0000
7:117777764:TC:T	acceptor_gain	1.0000
7:117777765:CC:C	acceptor_gain	1.0000
7:117777766:C:CC	acceptor_gain	1.0000

AlphaMissense

10913 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
7:117792483:C:G	R238P	0.998
7:117861217:C:G	A61P	0.998
7:117725241:A:G	W1358R	0.997
7:117725241:A:T	W1358R	0.997
7:117792474:A:G	L241P	0.997
7:117861238:C:G	A54P	0.996
7:117861243:A:G	L52P	0.996
7:117784361:C:A	G721V	0.995
7:117861213:A:G	L62P	0.995
7:117861228:A:G	L57P	0.995
7:117784370:G:T	A718D	0.994
7:117792432:A:G	L255P	0.994
7:117792462:A:G	L245P	0.994
7:117810838:A:T	V114D	0.994
7:117719547:A:G	L1534P	0.993
7:117767094:G:T	A954D	0.993
7:117777527:G:T	A921D	0.993
7:117777530:G:T	A920D	0.993
7:117791733:G:T	A488D	0.993
7:117792504:A:G	L231P	0.993
7:117861225:A:T	V58D	0.993
7:117725256:A:G	W1353R	0.992
7:117725256:A:T	W1353R	0.992
7:117767112:C:G	R948P	0.992
7:117861264:A:G	L45P	0.992
7:117784337:A:G	L729P	0.991
7:117792523:C:G	A225P	0.991
7:117792675:A:G	L174P	0.991
7:117861234:C:A	R55I	0.991
7:117861267:A:G	L44P	0.991

dbSNP variants (sampled 300 via entrez): RS1000015175 (7:117826673 C>G,T), RS1000018254 (7:117869189 G>A), RS1000025691 (7:117737212 A>G), RS1000027327 (7:117726865 G>A), RS1000064978 (7:117714337 G>A,T), RS1000070247 (7:117853915 T>C), RS1000097649 (7:117819793 A>G), RS1000165794 (7:117710592 C>T), RS1000237029 (7:117820059 T>C), RS1000279760 (7:117711172 A>C), RS1000281555 (7:117805364 T>C), RS1000282421 (7:117755306 T>C), RS1000300147 (7:117760490 G>T), RS1000315452 (7:117769093 C>T), RS1000325156 (7:117785450 T>C)

Disease associations

OMIM: gene MIM:609772 | disease phenotypes:

GenCC curated gene-disease

Disease	Classification	Inheritance
autism spectrum disorder	Limited	Autosomal dominant

Mondo (2): prostate cancer (MONDO:0008315), autism spectrum disorder (MONDO:0005258)

Orphanet (1): Familial prostate cancer (Orphanet:1331)

HPO phenotypes

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

GWAS associations

30 associations (top):

Study	Trait	p-value
GCST002408_2	Response to methotrexate in juvenile idiopathic arthritis	5.000000e-07
GCST002408_3	Response to methotrexate in juvenile idiopathic arthritis	6.000000e-06
GCST003918_8	Idiopathic osteonecrosis of the femoral head	7.000000e-06
GCST005580_180	Intraocular pressure	2.000000e-08
GCST005956_17	Waist-to-hip ratio adjusted for BMI	5.000000e-09
GCST005962_49	Waist-to-hip ratio adjusted for BMI x sex x age interaction (4df test)	3.000000e-07
GCST006065_3	Glaucoma (primary open-angle)	1.000000e-08
GCST006394_15	Intraocular pressure	1.000000e-10
GCST006395_30	Glaucoma	3.000000e-08
GCST006395_47	Glaucoma	1.000000e-07
GCST006412_71	Intraocular pressure	5.000000e-11
GCST006436_4	Triglyceride levels	2.000000e-08
GCST006867_61	Type 2 diabetes	3.000000e-10
GCST007327_184	Smoking status (ever vs never smokers)	5.000000e-12
GCST007603_1	Smoking initiation	1.000000e-08
GCST007624_1	Positive urgency	9.000000e-07
GCST007709_29	General factor of neuroticism	4.000000e-09
GCST008810_14	Smoking initiation (ever regular vs never regular)	6.000000e-11
GCST009379_75	Type 2 diabetes	1.000000e-08
GCST009725_51	Intraocular pressure	1.000000e-10
GCST009726_3	Glaucoma	3.000000e-07
GCST010702_78	Subcortical volume (MOSTest)	4.000000e-09
GCST010703_287	Brain morphology (MOSTest)	5.000000e-15
GCST011365_136	Myocardial infarction	2.000000e-06
GCST011703_84	Smoking initiation	5.000000e-16
GCST011704_7	Smoking status (current vs never)	7.000000e-09
GCST012111_5	Worry too long after an embarrassing experience	3.000000e-06
GCST012114_10	Sociability score	4.000000e-10
GCST90011766_14	Glaucoma (primary open-angle)	9.000000e-09
GCST90011770_13	Glaucoma (primary open-angle)	8.000000e-17

EFO canonical traits (14, from GWAS)

EFO ID	Trait name
EFO:1001930	idiopathic osteonecrosis of the femoral head
EFO:0004695	intraocular pressure measurement
EFO:0007788	BMI-adjusted waist-hip ratio
EFO:0008007	age at assessment
EFO:0008343	sex interaction measurement
EFO:0004530	triglyceride measurement
EFO:0004318	smoking behavior
EFO:0005670	smoking initiation
EFO:0006946	behavioural disinhibition measurement
EFO:0007660	neuroticism measurement
EFO:0004346	neuroimaging measurement
EFO:0006527	smoking status measurement
EFO:0009589	worry measurement
EFO:0009592	social interaction measurement

MeSH disease descriptors (1)

Descriptor	Name	Tree numbers
D011471	Prostatic Neoplasms	C04.588.945.440.770; C12.100.500.260.750; C12.100.500.565.625; C12.200.294.260.750; C12.200.294.565.625; C12.200.758.409.750; C12.900.619.750

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

31 total (human), top 30 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Vehicle Emissions	affects cotreatment, increases abundance, increases expression	2
Silicon Dioxide	decreases expression, increases expression	2
Aflatoxin B1	decreases methylation	2
Particulate Matter	affects cotreatment, increases abundance, increases expression	2
aristolochic acid I	decreases expression	1
FR900359	increases phosphorylation	1
arsenite	decreases methylation	1
Am 580	decreases expression	1
bisphenol S	decreases methylation	1
jinfukang	affects cotreatment, decreases expression	1
(+)-JQ1 compound	decreases expression	1
Rosiglitazone	decreases expression	1
Resveratrol	affects cotreatment, decreases expression	1
Sunitinib	increases expression	1
Air Pollutants	decreases expression	1
Allergens	increases expression, affects cotreatment, increases abundance	1
Benzo(a)pyrene	increases methylation	1
Cisplatin	affects cotreatment, decreases expression	1
Estradiol	affects cotreatment, increases expression	1
Nickel	decreases expression	1
Paraquat	decreases expression	1
Phenobarbital	decreases expression	1
Plant Extracts	affects cotreatment, decreases expression	1
Quercetin	decreases expression	1
Rotenone	decreases expression	1
Tobacco Smoke Pollution	increases expression	1
Tretinoin	decreases expression	1
8-Bromo Cyclic Adenosine Monophosphate	decreases expression	1
Cyclosporine	decreases expression	1
Okadaic Acid	decreases expression	1

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT00391261	PHASE4	COMPLETED	An Open-label Trial of Metformin for Weight Control of Pediatric Patients on Antipsychotic Medications.
NCT01028820	PHASE4	COMPLETED	FMRI Brain Activation of Aripiprazole Treatment in Autism Spectrum Disorders
NCT01333865	PHASE4	COMPLETED	A Study of Memantine Hydrochloride (Namenda®) for Cognitive and Behavioral Impairment in Adults With Autism Spectrum Disorders
NCT01337700	PHASE4	COMPLETED	Milnacipran in Autism and the Functional Locus Coeruleus and Noradrenergic Model of Autism
NCT01695200	PHASE4	COMPLETED	Omega-3 Fatty Acids in Autism Spectrum Disorders
NCT02096952	PHASE4	COMPLETED	Methylphenidate ER Liquid Formulation in Adults With ASD and ADHD
NCT02235467	PHASE4	COMPLETED	Multisite Study: Parental Training Using Video Modelling to Develop Social Skills in Children With Autism
NCT02940574	PHASE4	COMPLETED	Neural and Behavioral Effects of Oxytocin in Autism Spectrum Disorders
NCT03333629	PHASE4	COMPLETED	Promoting Positive Outcomes for Individuals With ASD: Linking Early Detection, Treatment, and Long-term Outcomes
NCT03337646	PHASE4	COMPLETED	Evaluation of the Effect and Safety of Lisdexamfetamine in Children Aged 6-12 With ADHD and Autism
NCT03538431	PHASE4	COMPLETED	Improving Driving in Young People With Autism Spectrum Disorders
NCT03757585	PHASE4	COMPLETED	Natural Treatments for the Management of Emotional Dysregulation in Youth With Non-verbal Learning Disability (NVLD) and/or Autism Spectrum Disorders (ASD)
NCT04903353	PHASE4	COMPLETED	Pragmatic Trial Comparing Weight Gain in Children With Autism Taking Risperidone Versus Aripiprazole
NCT05063656	PHASE4	COMPLETED	Biomarker-Driven Pharmacological Treatment of Adolescents With Autism Spectrum Disorder With Gabapentin
NCT05146245	PHASE4	UNKNOWN	Safety and Pharmacokinetics of Antipsychotics in Children 2: Studying TDM in an RCT
NCT05916339	PHASE4	RECRUITING	AWARE: Management of ADHD in Autism Spectrum Disorder
NCT05954052	PHASE4	TERMINATED	A Study of Glutathione in Children With Autism Spectrum Disorder
NCT06853665	PHASE4	RECRUITING	The TEAM Study - Treatment Efficacy for Autism/Attention Using Mixed Amphetamine
NCT07054697	PHASE4	COMPLETED	Pilot-RCT With Individualized Homeopathic Treatment in the Children With Autism Spectrum Disorder
NCT07161804	PHASE4	COMPLETED	Pilot RCT Using Homeopathic Medicines in ASD
NCT07439042	PHASE4	NOT_YET_RECRUITING	Buspirone for Anxiety in Autistic Youth
NCT00029224	PHASE4	COMPLETED	Treatment With Zoledronic Acid in Patients With Breast Cancer, Multiple Myeloma, and Prostate Cancer With Cancer Related Bone Lesions
NCT00035997	PHASE4	COMPLETED	Open-label Trial on the Effect of I.V. Zoledronic Acid 4 mg on Bone Density in Hormone Sensitive Prostate Cancer Patients With Bone Metastasis
NCT00063609	PHASE4	COMPLETED	The Effect of Zoledronic Acid on Bone Loss in Prostate Cancer Patients Undergoing Androgen Deprivation Therapy
NCT00103623	PHASE4	SUSPENDED	The Plenaxis® Experience Study
NCT00106392	PHASE4	COMPLETED	A Safety and Efficacy Study of Prograf in the Prevention of Erectile Dysfunction After Radical Prostatectomy
NCT00185029	PHASE4	UNKNOWN	MR-Lymphography and Lymph Node Staging in Prostate Cancer
NCT00199485	PHASE4	COMPLETED	Angelica Sinensis for the Treatment of Hot Flashes in Men Undergoing LHRH Therapy for Prostate Cancer
NCT00219219	PHASE4	COMPLETED	Zoledronic Acid in the Prevention of Skeletal-related Events in Hormone Refractory and Hormone-sensitive Prostate Cancer Patients With Bone Metastases
NCT00219271	PHASE4	COMPLETED	Effect Of Zoledronic Acid On Circulating And Bone Marrow-Residing Prostate Cancer Cells In Patients With Clinically Localized Prostate Cancer
NCT00237146	PHASE4	COMPLETED	Study to Evaluate Zoledronic Acid on Quality of Life and Skeletal-related Events as Adjuvant Treatment in Patients With Hormone-naïve Prostate Cancer and Bone Metastasis Who Have Undergone Orchiectomy
NCT00242554	PHASE4	COMPLETED	Open-label Phase IV Clinical Trial to Evaluate the Safety and Tolerability of Zoledronic Acid in Patients With Prostate Cancer and Bone Metastases
NCT00280098	PHASE4	COMPLETED	Docetaxel in the Treatment of Hormone Refractory Prostate Cancer
NCT00293696	PHASE4	COMPLETED	Casodex/Zoladex Biomarkers in Localised Prostate Cancer
NCT00334139	PHASE4	COMPLETED	Effect of Zoledronic Acid on Bone Metabolism in Patients With Bone Metastasis and Prostate or Breast Cancer
NCT00375765	PHASE4	COMPLETED	Effects On Dihydrotestosterone Regulated Gene Expression In Benign Prostatic Hyperplasia Or Prostate Cancer
NCT00391690	PHASE4	COMPLETED	Evaluation of Bone Markers as Diagnostic Tools for Early Detection of Bone Metastases in Patients With High Risk Prostate Cancer
NCT00422708	PHASE4	COMPLETED	Local Anesthesia for Prostate Biopsy
NCT00526331	PHASE4	COMPLETED	Evaluation of Arterial Pressure Based Cardiac Output for Goal-Directed Perioperative Therapy
NCT00590213	PHASE4	COMPLETED	Compare the Value of Prophylactic Versus Therapeutic Breast Radiotherapy in CASODEX