NGEF

Summary

NGEF (neuronal guanine nucleotide exchange factor, HGNC:7807) is a protein-coding gene on chromosome 2q37.1, encoding Ephexin-1 (Q8N5V2). Acts as a guanine nucleotide exchange factor (GEF) which differentially activates the GTPases RHOA, RAC1 and CDC42.

Enables guanyl-nucleotide exchange factor activity. Predicted to be involved in ephrin receptor signaling pathway; regulation of actin cytoskeleton organization; and regulation of synapse organization. Predicted to be located in cytosol. Predicted to be active in glutamatergic synapse and postsynapse.

Source: NCBI Gene 25791 — RefSeq curated summary.

At a glance

• GWAS associations: 21
• Clinical variants (ClinVar): 89 total — 1 pathogenic
• MANE Select transcript: NM_019850

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:7807
Approved symbol	NGEF
Name	neuronal guanine nucleotide exchange factor
Location	2q37.1
Locus type	gene with protein product
Status	Approved
Aliases	ARHGEF27
Ensembl gene	ENSG00000066248
Ensembl biotype	protein_coding
OMIM	605991
Entrez	25791

Gene structure

Transcript identifiers

Ensembl transcripts: 14 — 11 protein_coding, 2 retained_intron, 1 protein_coding_CDS_not_defined

ENST00000264051, ENST00000373552, ENST00000409079, ENST00000414326, ENST00000416114, ENST00000420650, ENST00000424488, ENST00000461944, ENST00000489127, ENST00000905022, ENST00000905023, ENST00000905024, ENST00000965357, ENST00000965358

RefSeq mRNA: 2 — MANE Select: NM_019850 NM_001114090, NM_019850

CCDS: CCDS2500, CCDS46544

Canonical transcript exons

ENST00000264051 — 15 exons

Exon	Start	End
ENSE00000844082	232920284	232920585
ENSE00001073198	232885280	232885369
ENSE00001073207	232891358	232891487
ENSE00001146708	232927044	232927186
ENSE00001267443	232881146	232881250
ENSE00001267450	232882186	232882265
ENSE00001267518	233013068	233013256
ENSE00001267535	232878701	232879679
ENSE00001267547	232974623	232974964
ENSE00002506331	232970214	232970328
ENSE00003483409	232888033	232888107
ENSE00003529594	232892898	232893050
ENSE00003582873	232894756	232894916
ENSE00003602931	232883311	232883466
ENSE00003654743	232883981	232884144

Expression profiles

Bgee: expression breadth ubiquitous, 213 present calls, max score 98.04.

FANTOM5 (CAGE): breadth broad, TPM avg 7.6780 / max 502.5533, expressed in 678 samples.

FANTOM5 promoters (6 alternative TSS)

Promoter ID	TPM avg	Samples expressed
34572	6.2090	606
34571	0.5047	96
34573	0.4611	137
34577	0.3276	36
34574	0.1316	67
34575	0.0439	23

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
prefrontal cortex	UBERON:0000451	98.04	gold quality
Brodmann (1909) area 46	UBERON:0006483	97.62	gold quality
parietal lobe	UBERON:0001872	97.45	gold quality
frontal cortex	UBERON:0001870	97.40	gold quality
putamen	UBERON:0001874	97.19	gold quality
dorsolateral prefrontal cortex	UBERON:0009834	97.10	gold quality
superior frontal gyrus	UBERON:0002661	97.08	gold quality
postcentral gyrus	UBERON:0002581	97.05	gold quality
lateral globus pallidus	UBERON:0002476	96.93	gold quality
Brodmann (1909) area 9	UBERON:0013540	96.71	gold quality
caudate nucleus	UBERON:0001873	96.58	gold quality
right frontal lobe	UBERON:0002810	96.55	gold quality
nucleus accumbens	UBERON:0001882	96.42	gold quality
occipital lobe	UBERON:0002021	96.42	gold quality
neocortex	UBERON:0001950	96.36	gold quality
pons	UBERON:0000988	96.24	gold quality
primary visual cortex	UBERON:0002436	95.46	gold quality
anterior cingulate cortex	UBERON:0009835	94.96	gold quality
cerebral cortex	UBERON:0000956	94.47	gold quality
upper arm skin	UBERON:0004263	94.10	silver quality
adult organism	UBERON:0007023	93.83	gold quality
left adrenal gland	UBERON:0001234	93.60	gold quality
right adrenal gland	UBERON:0001233	93.42	gold quality
entorhinal cortex	UBERON:0002728	93.40	gold quality
adrenal tissue	UBERON:0018303	93.23	gold quality
adrenal cortex	UBERON:0001235	93.21	gold quality
ileal mucosa	UBERON:0000331	93.19	gold quality
middle temporal gyrus	UBERON:0002771	93.08	gold quality
right adrenal gland cortex	UBERON:0035827	92.97	gold quality
left adrenal gland cortex	UBERON:0035825	92.86	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	4.45

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): HOXD13

miRNA regulators (miRDB)

51 targeting NGEF, 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-6129	100.00	66.46	2080
HSA-MIR-4510	100.00	66.60	2050
HSA-MIR-6127	100.00	66.76	2188
HSA-MIR-6130	100.00	66.69	2012
HSA-MIR-6133	100.00	66.48	2064
HSA-MIR-200B-3P	100.00	73.31	2693
HSA-MIR-200C-3P	100.00	73.35	2685
HSA-MIR-429	100.00	73.44	2698
HSA-MIR-6778-3P	99.96	67.29	2693
HSA-MIR-6825-5P	99.96	69.81	3431
HSA-MIR-6721-5P	99.93	68.92	2981
HSA-MIR-6885-3P	99.75	70.36	3187
HSA-MIR-378G	99.71	64.90	1106
HSA-MIR-5700	99.64	69.88	2280
HSA-MIR-4437	99.52	65.29	1266
HSA-MIR-4441	99.49	66.56	3216
HSA-MIR-1207-5P	99.49	69.11	2983
HSA-MIR-6727-3P	99.49	65.92	1333
HSA-MIR-516A-3P	99.46	67.96	1378
HSA-MIR-516B-3P	99.46	67.96	1378
HSA-MIR-103A-1-5P	99.39	67.78	1545
HSA-MIR-103A-2-5P	99.39	67.72	1577
HSA-MIR-155-5P	99.35	70.16	1509
HSA-MIR-664A-3P	99.22	71.08	2696
HSA-MIR-6852-5P	99.17	66.69	2073
HSA-MIR-4763-3P	99.10	67.83	2649
HSA-MIR-661	99.09	65.94	2062
HSA-MIR-4270	99.02	66.26	1987
HSA-MIR-939-3P	98.97	65.07	2347
HSA-MIR-3145-3P	98.85	69.07	2031

Literature-anchored findings (GeneRIF, showing 3)

• FGFR-mediated phosphorylation of ephexin1 enhances the guanine nucleotide exchange activity toward RhoA without affecting the activity to Rac1 or Cdc42. (PMID:17702745)
• A visceral-fat-associated SNP, rs11678490 of NGEF, was found in Korean men. (PMID:26340433)
• Akt-mediated Ephexin1-Ras interaction promotes oncogenic Ras signaling and colorectal and lung cancer cell proliferation. (PMID:34711817)

Cross-species orthologs

4 orthologs

Organism	Symbol	Gene ID
danio_rerio	ngef	ENSDARG00000076179
mus_musculus	Ngef	ENSMUSG00000026259
rattus_norvegicus	Ngef	ENSRNOG00000016653
caenorhabditis_elegans		WBGENE00019487

Paralogs (6): ARHGEF5 (ENSG00000050327), ARHGEF26 (ENSG00000114790), ARHGEF16 (ENSG00000130762), ARHGEF19 (ENSG00000142632), ARHGEF15 (ENSG00000198844), ARHGEF35 (ENSG00000213214)

Protein

Protein identifiers

Ephexin-1 — Q8N5V2 (reviewed: Q8N5V2)

Alternative names: Eph-interacting exchange protein, Neuronal guanine nucleotide exchange factor

All UniProt accessions (4): Q8N5V2, C9JTV7, H7BZ39, H7C2C2

UniProt curated annotations — full annotation on UniProt →

Function. Acts as a guanine nucleotide exchange factor (GEF) which differentially activates the GTPases RHOA, RAC1 and CDC42. Plays a role in axon guidance regulating ephrin-induced growth cone collapse and dendritic spine morphogenesis. Upon activation by ephrin through EPHA4, the GEF activity switches toward RHOA resulting in its activation. Activated RHOA promotes cone retraction at the expense of RAC1- and CDC42-stimulated growth cone extension.

Subunit / interactions. Interacts with CDK5R1 and EPHA4; activated by EPHA4 through the CDK5 kinase.

Subcellular location. Cytoplasm. Membrane. Cell projection. Growth cone.

Tissue specificity. Highly expressed in brain specifically in caudate nucleus and to a lower extent in amygdala and hippocampus. Also detected in lung.

Post-translational modifications. Src-dependent phosphorylation at Tyr-179 upon EPHA4 activation increases the guanine exchange factor activity toward RHOA. Phosphorylation by CDK5 upon EPHA4 activation by EFNA1 may regulate dendritic spine morphogenesis.

Domain organisation. The DH domain and the PH domain are both required to mediate interaction with EPHA4.

Isoforms (3)

UniProt ID	Names	Canonical?
Q8N5V2-1	1	yes
Q8N5V2-2	2
Q8N5V2-3	3

RefSeq proteins (2): NP_001107562, NP_062824* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR000219	DH_dom	Domain
IPR001452	SH3_domain	Domain
IPR001849	PH_domain	Domain
IPR011993	PH-like_dom_sf	Homologous_superfamily
IPR035635	Ephexin-1_SH3	Domain
IPR035899	DBL_dom_sf	Homologous_superfamily
IPR036028	SH3-like_dom_sf	Homologous_superfamily
IPR047270	PH_ephexin	Domain
IPR047271	Ephexin-like	Family
IPR055251	SOS1_NGEF_PH	Domain

Pfam: PF00018, PF00621, PF22697

UniProt features (26 total): compositionally biased region 7, sequence conflict 5, region of interest 4, domain 3, splice variant 3, sequence variant 2, chain 1, modified residue 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q8N5V2-F1	72.00	0.43

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): 179

Function

Pathways and Gene Ontology

Reactome pathways

6 pathways

ID	Pathway
R-HSA-193648	NRAGE signals death through JNK
R-HSA-3928663	EPHA-mediated growth cone collapse
R-HSA-416482	G alpha (12/13) signalling events
R-HSA-8980692	RHOA GTPase cycle
R-HSA-9013148	CDC42 GTPase cycle
R-HSA-9013149	RAC1 GTPase cycle

MSigDB gene sets: 173 (showing top): GSE45365_NK_CELL_VS_CD8A_DC_UP, GOBP_DENDRITE_DEVELOPMENT, GOBP_NEGATIVE_REGULATION_OF_DENDRITIC_SPINE_DEVELOPMENT, FREAC2_01, GOBP_DENDRITIC_SPINE_DEVELOPMENT, GOBP_REGULATION_OF_GTPASE_ACTIVITY, GOBP_REGULATION_OF_SMALL_GTPASE_MEDIATED_SIGNAL_TRANSDUCTION, REACTOME_NRAGE_SIGNALS_DEATH_THROUGH_JNK, GOBP_NEUROGENESIS, HATADA_METHYLATED_IN_LUNG_CANCER_DN, GOBP_NEGATIVE_REGULATION_OF_CELLULAR_COMPONENT_ORGANIZATION, GOBP_REGULATION_OF_ACTIN_FILAMENT_BASED_PROCESS, GOBP_REGULATION_OF_HYDROLASE_ACTIVITY, GOBP_REGULATION_OF_CELL_PROJECTION_ORGANIZATION, GOBP_CELL_JUNCTION_ORGANIZATION

GO Biological Process (8): nervous system development (GO:0007399), cell differentiation (GO:0030154), regulation of actin cytoskeleton organization (GO:0032956), regulation of GTPase activity (GO:0043087), ephrin receptor signaling pathway (GO:0048013), regulation of small GTPase mediated signal transduction (GO:0051056), negative regulation of dendritic spine morphogenesis (GO:0061002), regulation of synapse pruning (GO:1905806)

GO Molecular Function (3): guanyl-nucleotide exchange factor activity (GO:0005085), ephrin receptor binding (GO:0046875), protein binding (GO:0005515)

GO Cellular Component (6): cytosol (GO:0005829), membrane (GO:0016020), growth cone (GO:0030426), glutamatergic synapse (GO:0098978), cytoplasm (GO:0005737), cell projection (GO:0042995)

Reactome top-level categories

Rollup of top-4 pathways:

Category	Pathways
RHO GTPase cycle	3
Cell death signalling via NRAGE, NRIF and NADE	1
EPH-Ephrin signaling	1
GPCR downstream signalling	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	4
system development	1
cellular developmental process	1
actin cytoskeleton organization	1
regulation of actin filament-based process	1
regulation of cytoskeleton organization	1
GTPase activity	1
regulation of hydrolase activity	1
cell surface receptor protein tyrosine kinase signaling pathway	1
small GTPase-mediated signal transduction	1
regulation of intracellular signal transduction	1
negative regulation of neuron projection development	1
dendritic spine morphogenesis	1
negative regulation of dendritic spine development	1
regulation of dendritic spine morphogenesis	1
regulation of synapse organization	1
synapse pruning	1
GTP binding	1
GDP binding	1
GTPase regulator activity	1
signaling receptor binding	1
binding	1
cytoplasm	1
site of polarized growth	1
distal axon	1
synapse	1
intracellular anatomical structure	1

Protein interactions and networks

STRING

1268 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
NGEF	EPHA1	P21709	880
NGEF	EFNA1	P20827	791
NGEF	EPHA4	P54764	786
NGEF	EFNA4	P52798	776
NGEF	EFNA2	O43921	757
NGEF	EFNA3	P52797	749
NGEF	MCF2	P10911	744
NGEF	EFNA5	P52803	727
NGEF	RHOA	P06749	682
NGEF	CDC42	P21181	662
NGEF	EFNB3	Q15768	660
NGEF	EFNB1	P98172	644
NGEF	CACNA1A	P78510	640
NGEF	EFNB2	P52799	626
NGEF	EPHB2	P29323	584

IntAct

60 interactions, top by confidence:

A	B	Type	Score
NGEF	FGFR3	psi-mi:“MI:0915”(physical association)	0.560
GRN	NGEF	psi-mi:“MI:0915”(physical association)	0.560
NGEF	GSN	psi-mi:“MI:0915”(physical association)	0.560
NGEF	HRAS	psi-mi:“MI:0915”(physical association)	0.560
NGEF	HSPB1	psi-mi:“MI:0915”(physical association)	0.560
NGEF	WFS1	psi-mi:“MI:0915”(physical association)	0.560
NGEF		psi-mi:“MI:0915”(physical association)	0.560
NGEF	KIF1B	psi-mi:“MI:0915”(physical association)	0.560
RNF11	NGEF	psi-mi:“MI:0915”(physical association)	0.560
HTT	NGEF	psi-mi:“MI:0915”(physical association)	0.560

BioGRID (90): NGEF (Two-hybrid), NGEF (Two-hybrid), PRKCD (Affinity Capture-MS), NGEF (Affinity Capture-MS), PRKCI (Affinity Capture-MS), MRS2 (Affinity Capture-MS), ACTR1B (Affinity Capture-MS), ACTR10 (Affinity Capture-MS), NGEF (Affinity Capture-RNA), NGEF (Two-hybrid), NGEF (Two-hybrid), NGEF (FRET), NGEF (Two-hybrid), NGEF (Two-hybrid), NGEF (Affinity Capture-MS)

ESM2 similar proteins: A2RT67, A2RUS2, A4IJ06, F1LQX4, F1R7R1, G9CGD6, O88842, O95170, O95267, P52734, P98174, Q05AA6, Q0GNC1, Q13474, Q13905, Q17R89, Q28CB1, Q3U0J8, Q3ZBK7, Q4VX76, Q5BKC9, Q5F3G0, Q5JS13, Q5RAS2, Q5RDX5, Q5SSM3, Q641K1, Q69ZK0, Q6NTL4, Q6ZM86, Q6ZWE6, Q70Z35, Q7Z628, Q8BL80, Q8BM47, Q8BRH3, Q8CGF6, Q8CHT1, Q8IV61, Q8IZC4

Diamond homologs: A1IGU3, A1IGU4, A1IGU5, A1ZAY1, E7F1U2, O15068, O15085, O60229, P10569, P15498, P40995, Q08DN7, Q1LUA6, Q3LAC4, Q5BKC9, Q5DU57, Q5RDX5, Q60992, Q63406, Q64096, Q69ZK0, Q6RFZ7, Q70Z35, Q80VK6, Q8CHT1, Q8N5V2, Q8TCU6, Q96N96, Q9ES67, Q9NHV9, Q9NXL2, A5YM69, E9Q7D5, O94989, Q12774, Q3U5C8, Q5FWH6, Q5VV41, Q8BWA8, Q8C120

SIGNOR signaling

2 interactions.

A	Effect	B	Mechanism
NGEF	“up-regulates activity”	RHOA	“guanine nucleotide exchange factor”
CDK5	“up-regulates activity”	NGEF	phosphorylation

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 38 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
RHO GTPases Activate Formins	5	12.9×	2e-03

GO biological processes:

GO term	Partners	Fold	FDR
regulation of actin cytoskeleton organization	5	22.5×	2e-03
actin filament organization	5	16.9×	3e-03

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	1
Likely pathogenic	0
Uncertain significance	67
Likely benign	7
Benign	1

Top pathogenic / likely-pathogenic (1)

Variant ID	HGVS	Classification
4280594	GRCh37/hg19 2q37.1(chr2:233832301-233833236)x1	Pathogenic

SpliceAI

3556 predictions. Top by Δscore:

Variant	Effect	Δscore
2:232879675:CCACC:C	acceptor_gain	1.0000
2:232879676:CACC:C	acceptor_gain	1.0000
2:232879676:CACCC:C	acceptor_gain	1.0000
2:232879677:ACC:A	acceptor_gain	1.0000
2:232879677:ACCC:A	acceptor_loss	1.0000
2:232879678:CC:C	acceptor_gain	1.0000
2:232879678:CCC:C	acceptor_gain	1.0000
2:232879679:CCTG:C	acceptor_gain	1.0000
2:232879679:CCTGT:C	acceptor_loss	1.0000
2:232879680:C:CA	acceptor_loss	1.0000
2:232879680:C:CC	acceptor_gain	1.0000
2:232879680:C:T	acceptor_gain	1.0000
2:232879682:G:C	acceptor_gain	1.0000
2:232879682:G:GC	acceptor_gain	1.0000
2:232879685:C:CT	acceptor_gain	1.0000
2:232879686:A:T	acceptor_gain	1.0000
2:232880660:T:TA	donor_gain	1.0000
2:232881140:CCTCA:C	donor_loss	1.0000
2:232881141:CTCA:C	donor_loss	1.0000
2:232881142:TCA:T	donor_loss	1.0000
2:232881143:CAC:C	donor_loss	1.0000
2:232881144:A:AC	donor_gain	1.0000
2:232881144:ACC:A	donor_loss	1.0000
2:232881145:C:CC	donor_gain	1.0000
2:232881145:CCGT:C	donor_gain	1.0000
2:232883309:A:AC	donor_gain	1.0000
2:232883310:C:CA	donor_gain	1.0000
2:232883462:TGTCT:T	acceptor_gain	1.0000
2:232883463:GTCT:G	acceptor_gain	1.0000
2:232883465:CT:C	acceptor_gain	1.0000

AlphaMissense

4709 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
2:232879638:A:G	W662R	1.000
2:232879638:A:T	W662R	1.000
2:232879641:C:G	G661R	1.000
2:232879661:C:G	R654P	1.000
2:232879667:C:T	G652D	1.000
2:232879668:C:G	G652R	1.000
2:232882247:C:A	W592C	1.000
2:232882247:C:G	W592C	1.000
2:232882249:A:G	W592R	1.000
2:232882249:A:T	W592R	1.000
2:232883326:A:G	L581P	1.000
2:232883371:A:G	L566P	1.000
2:232883995:G:C	C529W	1.000
2:232884005:A:G	L526P	1.000
2:232884008:A:G	L525P	1.000
2:232884020:A:G	L521P	1.000
2:232884119:C:G	R488P	1.000
2:232884120:G:T	R488S	1.000
2:232885289:G:C	F476L	1.000
2:232885289:G:T	F476L	1.000
2:232885291:A:G	F476L	1.000
2:232891374:A:G	L419P	1.000
2:232891385:C:A	R415S	1.000
2:232891385:C:G	R415S	1.000
2:232891386:C:A	R415M	1.000
2:232891386:C:G	R415T	1.000
2:232893036:A:G	L335P	1.000
2:232894894:G:A	S284F	1.000
2:232894895:A:G	S284P	1.000
2:232894903:A:G	L281P	1.000

dbSNP variants (sampled 300 via entrez): RS1000005693 (2:232992287 G>A), RS1000042828 (2:232915959 A>C,G), RS1000043556 (2:232894618 T>C), RS1000054984 (2:232955708 G>A), RS1000074309 (2:232961217 C>T), RS1000114084 (2:232893331 C>G), RS1000115474 (2:232997979 G>T), RS1000138330 (2:232976784 G>A,T), RS1000140251 (2:233006289 G>A), RS1000160892 (2:232960166 C>T), RS1000168073 (2:232931198 A>G), RS1000176875 (2:233014097 A>T), RS1000202093 (2:232998141 C>T), RS1000204429 (2:232975572 C>T), RS1000211075 (2:232959921 A>G)

Disease associations

OMIM: gene MIM:605991 | disease phenotypes: MIM:600430

GenCC curated gene-disease

Mondo (1): 2q37 microdeletion syndrome (MONDO:0010886)

Orphanet (1): 2q37 microdeletion syndrome (Orphanet:1001)

HPO phenotypes

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

GWAS associations

21 associations (top):

Study	Trait	p-value
GCST002149_18	Schizophrenia	2.000000e-08
GCST002238_4	Contrast sensitivity	4.000000e-06
GCST002539_44	Schizophrenia	2.000000e-12
GCST004521_189	Autism spectrum disorder or schizophrenia	3.000000e-10
GCST004521_38	Autism spectrum disorder or schizophrenia	1.000000e-08
GCST004946_89	Schizophrenia	2.000000e-13
GCST005024_12	Pursuit maintenance gain	3.000000e-06
GCST005024_64	Pursuit maintenance gain	5.000000e-06
GCST006288_244	Heel bone mineral density	1.000000e-06
GCST006288_275	Heel bone mineral density	3.000000e-06
GCST006288_507	Heel bone mineral density	1.000000e-12
GCST006401_1	Sudden cardiac arrest	5.000000e-07
GCST006401_2	Sudden cardiac arrest	1.000000e-06
GCST006803_9	Schizophrenia	4.000000e-16
GCST006979_93	Heel bone mineral density	9.000000e-28
GCST007201_282	Schizophrenia	8.000000e-12
GCST007201_90	Schizophrenia	2.000000e-13
GCST008103_148	Bipolar disorder	3.000000e-06
GCST009256_2	Superior temporal sulcus banks volume	5.000000e-07
GCST009600_12	Anorexia nervosa, attention-deficit/hyperactivity disorder, autism spectrum disorder, bipolar disorder, major depression, obsessive-compulsive disorder, schizophrenia, or Tourette syndrome (pleiotropy)	2.000000e-11
GCST010991_31	Parkinson’s disease	3.000000e-07

EFO canonical traits (4, from GWAS)

EFO ID	Trait name
EFO:0005419	contrast sensitivity measurement
EFO:0008433	pursuit maintenance gain measurement
EFO:0009270	heel bone mineral density
EFO:0004278	sudden cardiac arrest

MeSH disease descriptors (1)

Descriptor	Name	Tree numbers
C538317	Chromosome 2q37 deletion syndrome (supp.)

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Benzo(a)pyrene	affects methylation, decreases expression, increases methylation, increases mutagenesis	7
Valproic Acid	affects cotreatment, decreases expression, affects expression, affects methylation, increases expression (+1 more)	6
Aflatoxin B1	affects expression, decreases expression, decreases methylation	5
sodium arsenite	decreases expression, affects cotreatment, increases abundance	2
entinostat	increases expression, affects cotreatment	2
Panobinostat	affects cotreatment, increases expression	2
Acetaminophen	decreases expression	2
Arsenic	affects methylation, affects cotreatment, decreases expression, increases abundance	2
aristolochic acid I	increases expression	1
sotorasib	affects cotreatment, decreases expression	1
bufotalin	decreases expression	1
methylmercuric chloride	decreases expression	1
propionaldehyde	increases expression	1
bisphenol A	affects cotreatment, decreases methylation	1
terbufos	increases methylation	1
beta-lapachone	increases expression	1
tris(1,3-dichloro-2-propyl)phosphate	increases expression	1
butyraldehyde	increases expression	1
manganese chloride	affects cotreatment, decreases expression, increases abundance	1
S-(1,2-dichlorovinyl)cysteine	affects cotreatment, decreases expression	1
pentanal	increases expression	1
CGP 52608	affects binding, increases reaction	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, increases expression, decreases expression	1
clothianidin	increases expression	1
belinostat	affects cotreatment, increases expression	1
dorsomorphin	affects cotreatment, increases expression, decreases expression	1
MRK 003	decreases expression	1
jinfukang	affects cotreatment, decreases expression	1
trametinib	affects cotreatment, decreases expression	1
NVP-BKM120	affects cotreatment, decreases expression	1

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT01238250	Not specified	RECRUITING	Online Study of People Who Have Genetic Changes and Features of Autism: Simons Searchlight