AGAP3

Summary

AGAP3 (ArfGAP with GTPase domain, ankyrin repeat and PH domain 3, HGNC:16923) is a protein-coding gene on chromosome 7q36.1, encoding Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 3 (Q96P47). GTPase-activating protein for the ADP ribosylation factor family (Potential).

This gene encodes an essential component of the N-methyl-D-aspartate (NMDA) receptor signaling complex which mediates long-term potentiation in synapses by linking activation of NMDA receptor to alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid (AMPA) receptor trafficking. The encoded protein contains an N-terminal GTPase-like domain, a pleckstrin homology domain, an ArfGAP domain and several C-terminal ankryn repeat domains.

Source: NCBI Gene 116988 — RefSeq curated summary.

At a glance

• GWAS associations: 2
• Clinical variants (ClinVar): 155 total
• MANE Select transcript: NM_031946

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:16923
Approved symbol	AGAP3
Name	ArfGAP with GTPase domain, ankyrin repeat and PH domain 3
Location	7q36.1
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000133612
Ensembl biotype	protein_coding
OMIM	616813
Entrez	116988

Gene structure

Transcript identifiers

Ensembl transcripts: 28 — 11 protein_coding, 10 protein_coding_CDS_not_defined, 6 retained_intron, 1 nonsense_mediated_decay

ENST00000335367, ENST00000397238, ENST00000461065, ENST00000463179, ENST00000463381, ENST00000467250, ENST00000467724, ENST00000468796, ENST00000469901, ENST00000473140, ENST00000473312, ENST00000473633, ENST00000475145, ENST00000476375, ENST00000478320, ENST00000479901, ENST00000480106, ENST00000483971, ENST00000485904, ENST00000486946, ENST00000490097, ENST00000490839, ENST00000492234, ENST00000494808, ENST00000498559, ENST00000961566, ENST00000961567, ENST00000961568

RefSeq mRNA: 8 — MANE Select: NM_031946 NM_001042535, NM_001281300, NM_001308304, NM_001308305, NM_001350102, NM_001350103, NM_001350104, NM_031946

CCDS: CCDS43681, CCDS55185, CCDS64802, CCDS78287, CCDS83243

Canonical transcript exons

ENST00000397238 — 18 exons

Exon	Start	End
ENSE00000978089	151138143	151138313
ENSE00001030678	151141898	151142052
ENSE00001030716	151139979	151140116
ENSE00001883577	151143737	151144434
ENSE00002521769	151123794	151123886
ENSE00002525298	151118505	151118632
ENSE00003469633	151142412	151142634
ENSE00003475631	151119987	151120145
ENSE00003497300	151128580	151128684
ENSE00003521371	151117371	151117456
ENSE00003522559	151118210	151118344
ENSE00003530978	151143341	151143596
ENSE00003551572	151117636	151117777
ENSE00003635140	151116793	151116851
ENSE00003643061	151117095	151117182
ENSE00003666056	151142163	151142253
ENSE00003667075	151134400	151134568
ENSE00003846743	151086475	151087072

Expression profiles

Bgee: expression breadth ubiquitous, 248 present calls, max score 99.40.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 42.4092 / max 437.8199, expressed in 1806 samples.

FANTOM5 promoters (14 alternative TSS)

Promoter ID	TPM avg	Samples expressed
82055	26.6117	1789
82054	6.5827	1709
82056	4.0623	1544
82050	1.3845	660
82067	1.0865	261
82053	1.0831	688
82052	0.6199	299
82051	0.4755	180
82062	0.1127	46
82068	0.1033	53

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
right hemisphere of cerebellum	UBERON:0014890	99.40	gold quality
right frontal lobe	UBERON:0002810	99.37	gold quality
cerebellar hemisphere	UBERON:0002245	99.30	gold quality
cerebellar cortex	UBERON:0002129	99.26	gold quality
Brodmann (1909) area 9	UBERON:0013540	99.14	gold quality
anterior cingulate cortex	UBERON:0009835	99.11	gold quality
prefrontal cortex	UBERON:0000451	99.10	gold quality
amygdala	UBERON:0001876	98.74	gold quality
cerebellum	UBERON:0002037	98.47	gold quality
hypothalamus	UBERON:0001898	98.39	gold quality
nucleus accumbens	UBERON:0001882	98.37	gold quality
cortical plate	UBERON:0005343	98.36	gold quality
adenohypophysis	UBERON:0002196	98.32	gold quality
endocervix	UBERON:0000458	98.15	gold quality
putamen	UBERON:0001874	98.07	gold quality
right lung	UBERON:0002167	98.04	gold quality
C1 segment of cervical spinal cord	UBERON:0006469	97.98	gold quality
pituitary gland	UBERON:0000007	97.84	gold quality
ectocervix	UBERON:0012249	97.70	gold quality
frontal cortex	UBERON:0001870	97.68	gold quality
lower esophagus mucosa	UBERON:0035834	97.67	gold quality
neocortex	UBERON:0001950	97.65	gold quality
left ovary	UBERON:0002119	97.63	gold quality
right ovary	UBERON:0002118	97.50	gold quality
ganglionic eminence	UBERON:0004023	97.48	gold quality
body of uterus	UBERON:0009853	97.47	gold quality
upper lobe of left lung	UBERON:0008952	97.44	gold quality
caudate nucleus	UBERON:0001873	97.42	gold quality
skin of abdomen	UBERON:0001416	97.25	gold quality
skin of leg	UBERON:0001511	97.24	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	15.10

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

22 targeting AGAP3, 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-8485	100.00	77.57	4731
HSA-MIR-4803	99.98	71.99	3117
HSA-LET-7C-3P	99.95	73.42	2862
HSA-MIR-6845-3P	99.94	66.88	1439
HSA-MIR-4779	99.86	66.50	1583
HSA-MIR-3941	99.86	70.54	2735
HSA-MIR-765	99.84	68.24	2442
HSA-MIR-130B-5P	99.83	68.50	1888
HSA-MIR-11181-3P	99.75	66.38	2205
HSA-MIR-6892-3P	99.68	66.40	1178
HSA-MIR-6832-3P	99.52	70.44	1726
HSA-MIR-4721	99.26	66.05	818
HSA-MIR-877-3P	99.09	68.10	1637
HSA-MIR-4695-5P	99.06	64.87	1151
HSA-MIR-29B-1-5P	98.86	68.35	1364
HSA-MIR-4660	97.79	67.44	1328
HSA-MIR-6793-3P	97.66	65.78	1084
HSA-MIR-550A-3-5P	97.56	65.35	823
HSA-MIR-550A-5P	97.56	65.35	823
HSA-MIR-1289	97.46	65.37	655
HSA-MIR-212-5P	96.83	67.43	950
HSA-MIR-6508-3P	96.73	65.48	576

Literature-anchored findings (GeneRIF, showing 5)

• M-RIP can assemble a complex containing both RhoA and Myosin phosphatase myosin binding subunit, suggesting that M-RIP may play a role in myosin phosphatase regulation by RhoA (PMID:14506264)
• AGAP3 is an essential signaling component of the NMDA receptor complex that links NMDA receptor activation to AMPA receptor trafficking. (PMID:23904596)
• AGAP3 expression was significantly increased in colorectal cancer (CRC)and colorectal adenoma compared to normal tissue. CRAG overexpression up-regulated c-Jun expression, and significantly increased cell proliferation and colony formation capability. AGAP3 expression did not have a concordant association with patient prognosis among datasets (PMID:30591445)
• Gastrointestinal stromal tumors with BRAF gene fusions. A report of two cases showing low or absent KIT expression resulting in diagnostic pitfalls. (PMID:34398495)
• HUNK inhibits cargo uptake and lysosomal traffic in the caveolar pathway via the AGAP3/ARF6. (PMID:38071109)

Cross-species orthologs

3 orthologs

Organism	Symbol	Gene ID
danio_rerio	agap3	ENSDARG00000087822
mus_musculus	Agap3	ENSMUSG00000023353
rattus_norvegicus	Agap3	ENSRNOG00000012764

Paralogs (28): ARAP2 (ENSG00000047365), ACAP1 (ENSG00000072818), SMAP2 (ENSG00000084070), ASAP3 (ENSG00000088280), ARFGAP1 (ENSG00000101199), ADAP1 (ENSG00000105963), AGFG2 (ENSG00000106351), GIT1 (ENSG00000108262), SMAP1 (ENSG00000112305), ACAP2 (ENSG00000114331), ARAP3 (ENSG00000120318), ACAP3 (ENSG00000131584), AGAP2 (ENSG00000135439), APPL2 (ENSG00000136044), GIT2 (ENSG00000139436), ARFGAP2 (ENSG00000149182), ASAP2 (ENSG00000151693), ASAP1 (ENSG00000153317), APPL1 (ENSG00000157500), AGAP1 (ENSG00000157985), AGAP5 (ENSG00000172650), AGFG1 (ENSG00000173744), ADAP2 (ENSG00000184060), ARAP1 (ENSG00000186635), AGAP4 (ENSG00000188234), AGAP6 (ENSG00000204149), AGAP9 (ENSG00000204172), ARFGAP3 (ENSG00000242247)

Protein

Protein identifiers

Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 3 — Q96P47 (reviewed: Q96P47)

Alternative names: CRAM-associated GTPase, Centaurin-gamma-3, MR1-interacting protein

All UniProt accessions (7): Q96P47, C9J975, E7ESL9, H0Y873, H7C4F1, H7C4U6, H7C5G0

UniProt curated annotations — full annotation on UniProt →

Function. GTPase-activating protein for the ADP ribosylation factor family (Potential). GTPase which may be involved in the degradation of expanded polyglutamine proteins through the ubiquitin-proteasome pathway.

Subunit / interactions. Interacts with PML. Interacts with expanded polyglutamine proteins.

Subcellular location. Cytoplasm.

Tissue specificity. Widely expressed.

Activity regulation. GTPase activity is stimulated by oxidative stress.

Similarity. Belongs to the centaurin gamma-like family.

Isoforms (6)

UniProt ID	Names	Canonical?
Q96P47-1	1	yes
Q96P47-2	2
Q96P47-3	3
Q96P47-4	4
Q96P47-5	5
Q96P47-6	6

RefSeq proteins (8): NP_001036000, NP_001268229, NP_001295233, NP_001295234, NP_001337031, NP_001337032, NP_001337033, NP_114152* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR001164	ArfGAP_dom	Domain
IPR001806	Small_GTPase	Family
IPR001849	PH_domain	Domain
IPR002110	Ankyrin_rpt	Repeat
IPR011993	PH-like_dom_sf	Homologous_superfamily
IPR027417	P-loop_NTPase	Homologous_superfamily
IPR036770	Ankyrin_rpt-contain_sf	Homologous_superfamily
IPR037278	ARFGAP/RecO	Homologous_superfamily
IPR038508	ArfGAP_dom_sf	Homologous_superfamily
IPR051282	Arf-GAP_GTPase_ANK_PH	Family

Pfam: PF00071, PF01412, PF12796

UniProt features (44 total): splice variant 7, strand 7, helix 6, region of interest 4, modified residue 4, domain 3, compositionally biased region 3, binding site 3, repeat 3, turn 2, chain 1, zinc finger region 1

Structure

Experimental structures (PDB)

1 structures.

PDB	Method	Resolution (Å)
3IHW	X-RAY DIFFRACTION	1.92

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q96P47-F1	71.08	0.44

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 (3): 98–105; 142–146; 198–201

Post-translational modifications (4): 324, 326, 443, 538

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 112 (showing top): GSE18804_SPLEEN_MACROPHAGE_VS_TUMORAL_MACROPHAGE_DN, STEARMAN_LUNG_CANCER_EARLY_VS_LATE_DN, GOBP_MACROMOLECULE_CATABOLIC_PROCESS, TGACCTY_ERR1_Q2, CHX10_01, GOBP_CELLULAR_RESPONSE_TO_OXYGEN_CONTAINING_COMPOUND, RICKMAN_METASTASIS_DN, MYOD_01, TGCTGAY_UNKNOWN, CCTGTGA_MIR513, GOBP_RESPONSE_TO_OXYGEN_CONTAINING_COMPOUND, DOUGLAS_BMI1_TARGETS_UP, E12_Q6, GOBP_PROTEASOMAL_PROTEIN_CATABOLIC_PROCESS, GOBP_PROTEIN_CATABOLIC_PROCESS

GO Biological Process (3): cellular response to reactive oxygen species (GO:0034614), proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161), regulation of postsynaptic membrane neurotransmitter receptor levels (GO:0099072)

GO Molecular Function (8): GTPase activity (GO:0003924), GTPase activator activity (GO:0005096), GTP binding (GO:0005525), zinc ion binding (GO:0008270), polyubiquitin modification-dependent protein binding (GO:0031593), nucleotide binding (GO:0000166), protein binding (GO:0005515), metal ion binding (GO:0046872)

GO Cellular Component (5): nucleus (GO:0005634), cytoplasm (GO:0005737), postsynaptic density (GO:0014069), cell periphery (GO:0071944), glutamatergic synapse (GO:0098978)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	2
response to reactive oxygen species	1
cellular response to oxidative stress	1
cellular response to oxygen-containing compound	1
ubiquitin-dependent protein catabolic process	1
proteasomal protein catabolic process	1
regulation of biological quality	1
ribonucleoside triphosphate phosphatase activity	1
GTPase activity	1
enzyme activator activity	1
GTPase regulator activity	1
guanyl ribonucleotide binding	1
purine ribonucleoside triphosphate binding	1
transition metal ion binding	1
modification-dependent protein binding	1
nucleoside phosphate binding	1
heterocyclic compound binding	1
binding	1
cation binding	1
intracellular membrane-bounded organelle	1
intracellular anatomical structure	1
asymmetric synapse	1
postsynaptic specialization	1
synapse	1

Protein interactions and networks

STRING

734 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
AGAP3	LHFPL4	Q7Z7J7	462
AGAP3	ZNF507	Q8TCN5	459
AGAP3	WDR86	Q86TI4	438
AGAP3	KLF14	Q8TD94	404
AGAP3	ONECUT2	O95948	380
AGAP3	GRIA1	P42261	376
AGAP3	KRTAP10-4	P60372	375
AGAP3	ZNF212	Q9UDV6	371
AGAP3	TMUB1	Q9BVT8	370
AGAP3	C2CD4D	B7Z1M9	366
AGAP3	CCDC177	Q9NQR7	351
AGAP3	C7orf33	Q8WU49	348
AGAP3	ITPRIPL2	Q3MIP1	343
AGAP3	TTYH3	Q9C0H2	331
AGAP3	DRC11L	A6NCM1	321

IntAct

71 interactions, top by confidence:

A	B	Type	Score
KBTBD7	METTL15	psi-mi:“MI:0914”(association)	0.730
CFTR	ESYT2	psi-mi:“MI:2364”(proximity)	0.710
TANC2	TAX1BP3	psi-mi:“MI:0914”(association)	0.690
YWHAG	BLTP3B	psi-mi:“MI:0914”(association)	0.640
GPR156	PLD2	psi-mi:“MI:0914”(association)	0.640
YWHAB	BLTP3B	psi-mi:“MI:0914”(association)	0.610
YWHAE	PIK3C2A	psi-mi:“MI:0914”(association)	0.570
YWHAH	BLTP3B	psi-mi:“MI:0914”(association)	0.570
SLC31A1	C2orf72	psi-mi:“MI:0914”(association)	0.530
JPH4	ZSWIM8	psi-mi:“MI:0914”(association)	0.530
FKBP6	EEF2K	psi-mi:“MI:0914”(association)	0.530
FLCN	ZNF609	psi-mi:“MI:0914”(association)	0.530
CD44	PDPK1	psi-mi:“MI:0914”(association)	0.530
AGAP3	HOXA1	psi-mi:“MI:0915”(physical association)	0.370
AGAP3	HSPB1	psi-mi:“MI:0915”(physical association)	0.370
JUN	TPM3	psi-mi:“MI:0914”(association)	0.350
HSCB	RBP5	psi-mi:“MI:0914”(association)	0.350
K8.1	EXOC5	psi-mi:“MI:0914”(association)	0.350
PRNP	WDR91	psi-mi:“MI:0914”(association)	0.350
ESR1	ESYT2	psi-mi:“MI:0914”(association)	0.350
YWHAG	C1orf226	psi-mi:“MI:0914”(association)	0.350
MAPK1	SEC16A	psi-mi:“MI:0914”(association)	0.350
RACGAP1	PSMD7	psi-mi:“MI:0914”(association)	0.350
M		psi-mi:“MI:0914”(association)	0.350
RYBP	PIPSL	psi-mi:“MI:0914”(association)	0.350
NUAK2	AP3D1	psi-mi:“MI:0914”(association)	0.350
MAPT	SHTN1	psi-mi:“MI:0914”(association)	0.350

BioGRID (99): AGAP3 (Affinity Capture-MS), AGAP3 (Affinity Capture-MS), AGAP3 (Two-hybrid), AGAP3 (Affinity Capture-MS), AGAP3 (Affinity Capture-MS), AGAP3 (Affinity Capture-MS), AGAP3 (Affinity Capture-MS), AGAP3 (Affinity Capture-MS), AGAP3 (Affinity Capture-MS), AGAP3 (Affinity Capture-MS), AGAP3 (Affinity Capture-MS), AGAP3 (Affinity Capture-MS), AGAP3 (Affinity Capture-MS), AGAP3 (Affinity Capture-MS), AGAP3 (Affinity Capture-MS)

ESM2 similar proteins: A0JMQ9, A1L1R5, A5PF44, A6QP16, B1H2Q2, B4HWV2, B4JE52, B4KKN5, B4LS82, B5E0H4, D3YWQ0, E7FEV0, F1MAB7, G5E8P1, M9PD06, O46080, O75912, O95696, O96838, P59438, Q10024, Q1L8G6, Q2NKQ1, Q3UGY8, Q3V0G7, Q4G017, Q5TH69, Q5U595, Q5VUJ5, Q5VVW2, Q5VW22, Q6NUB7, Q6P5D3, Q7M760, Q7ZUL9, Q80TM9, Q80U12, Q8AXQ3, Q8BPQ7, Q8K3Y6

Diamond homologs: A1L520, A1Z7A6, A5PK26, A6NIR3, O43150, O74345, O75689, O80925, O82171, O94601, O97902, P35197, P38682, P40529, P52594, Q04412, Q09531, Q0WQQ1, Q10165, Q10367, Q14161, Q15027, Q15057, Q17R07, Q1AAU6, Q1ZXH8, Q28CM8, Q2TA45, Q3MID3, Q3UHD9, Q4KLH5, Q4KLN7, Q4LDD4, Q4R4C9, Q5F413, Q5FVC7, Q5R787, Q5RAT7, Q5U464, Q5VTM2

SIGNOR signaling

0 interactions.

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 97 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
SARS-CoV-1 targets host intracellular signalling and regulatory pathways	5	54.2×	8e-06
RHO GTPases activate PKNs	5	25.6×	2e-04
Intrinsic Pathway for Apoptosis	5	23.6×	2e-04
Fc epsilon receptor (FCERI) signaling	5	21.9×	2e-04
Apoptosis	6	16.2×	2e-04
Translocation of SLC2A4 (GLUT4) to the plasma membrane	6	14.9×	2e-04
Transcriptional and post-translational regulation of MITF-M expression and activity	5	14.4×	1e-03
Programmed Cell Death	6	14.2×	2e-04

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	114
Likely benign	8
Benign	3

Top pathogenic / likely-pathogenic (0)

SpliceAI

4496 predictions. Top by Δscore:

Variant	Effect	Δscore
7:151087071:GG:G	donor_gain	1.0000
7:151087072:GG:G	donor_gain	1.0000
7:151116788:CGCA:C	acceptor_loss	1.0000
7:151116789:GCAG:G	acceptor_loss	1.0000
7:151116790:CAG:C	acceptor_loss	1.0000
7:151116791:A:AG	acceptor_gain	1.0000
7:151116791:A:T	acceptor_loss	1.0000
7:151116792:G:A	acceptor_loss	1.0000
7:151116792:G:GT	acceptor_gain	1.0000
7:151116792:GA:G	acceptor_gain	1.0000
7:151116792:GACTC:G	acceptor_gain	1.0000
7:151116847:AAGTG:A	donor_gain	1.0000
7:151116849:GTG:G	donor_gain	1.0000
7:151116850:TG:T	donor_gain	1.0000
7:151116850:TGGTG:T	donor_loss	1.0000
7:151116851:GG:G	donor_gain	1.0000
7:151116851:GGT:G	donor_loss	1.0000
7:151116852:G:GG	donor_gain	1.0000
7:151116853:T:A	donor_loss	1.0000
7:151117090:C:A	acceptor_gain	1.0000
7:151117090:CGCA:C	acceptor_loss	1.0000
7:151117091:GCA:G	acceptor_loss	1.0000
7:151117092:CAG:C	acceptor_loss	1.0000
7:151117093:A:AG	acceptor_gain	1.0000
7:151117093:AG:A	acceptor_gain	1.0000
7:151117093:AGG:A	acceptor_gain	1.0000
7:151117094:G:GG	acceptor_gain	1.0000
7:151117094:GG:G	acceptor_gain	1.0000
7:151117094:GGG:G	acceptor_gain	1.0000
7:151117094:GGGC:G	acceptor_gain	1.0000

AlphaMissense

5897 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
7:151086947:T:A	I33N	1.000
7:151086955:G:A	E36K	1.000
7:151086956:A:T	E36V	1.000
7:151086965:G:C	R39P	1.000
7:151086967:T:C	F40L	1.000
7:151086968:T:C	F40S	1.000
7:151086968:T:G	F40C	1.000
7:151086969:C:A	F40L	1.000
7:151086969:C:G	F40L	1.000
7:151087049:G:C	R67P	1.000
7:151087058:T:A	V70D	1.000
7:151116798:T:C	F77L	1.000
7:151116799:T:C	F77S	1.000
7:151116800:T:A	F77L	1.000
7:151116800:T:G	F77L	1.000
7:151116807:A:C	S80R	1.000
7:151116809:C:A	S80R	1.000
7:151116809:C:G	S80R	1.000
7:151116813:G:A	E82K	1.000
7:151116816:T:A	W83R	1.000
7:151116816:T:C	W83R	1.000
7:151116817:G:C	W83S	1.000
7:151116818:G:C	W83C	1.000
7:151116818:G:T	W83C	1.000
7:151116844:T:C	L92P	1.000
7:151117095:G:C	G95R	1.000
7:151117096:G:A	G95D	1.000
7:151117099:T:A	I96K	1.000
7:151117099:T:G	I96R	1.000
7:151117104:G:A	G98R	1.000

dbSNP variants (sampled 300 via entrez): RS1000048481 (7:151098403 T>A,C), RS1000071566 (7:151114510 C>T), RS1000088371 (7:151114724 C>T), RS1000106804 (7:151138671 A>G,T), RS1000127670 (7:151133065 G>A,T), RS1000178641 (7:151119208 G>A,C,T), RS1000210035 (7:151087722 G>A), RS1000244700 (7:151123910 C>A,T), RS1000262354 (7:151092809 T>C,G), RS1000303270 (7:151087460 G>A), RS1000335280 (7:151119510 G>A), RS1000339757 (7:151087997 T>A), RS1000467431 (7:151131961 G>A), RS1000506433 (7:151143256 G>A), RS1000565288 (7:151091708 G>C)

Disease associations

OMIM: gene MIM:616813 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

2 associations (top):

Study	Trait	p-value
GCST003476_9	Eyebrow thickness	7.000000e-06
GCST003771_2	Loneliness	6.000000e-06

EFO canonical traits (1, from GWAS)

EFO ID	Trait name
EFO:0007865	loneliness measurement

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

PharmGKB clinical annotations

1 annotations.

Variant	Type	Level	Drugs	Phenotypes
rs75750968	Efficacy	3	aspirin;clopidogrel	Acute coronary syndrome;Major Adverse Cardiac Events (MACE)

PharmGKB variants

1 variants.

Variant	Genes	Level	Score	#Clin annots	Drugs
rs75750968	AGAP3	3	3.50	1	aspirin;clopidogrel

CTD chemical–gene interactions

28 total (human), top 28 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
sodium arsenite	decreases expression, increases abundance, increases expression, affects cotreatment	3
Arsenic	affects methylation, affects cotreatment, decreases expression, increases abundance, increases expression	3
bisphenol A	decreases expression, increases expression	2
Rotenone	decreases expression, increases expression	2
Valproic Acid	affects expression, increases methylation	2
FR900359	increases phosphorylation	1
triphenyl phosphate	affects expression	1
kojic acid	increases expression	1
beta-lapachone	decreases expression	1
manganese chloride	affects cotreatment, decreases expression, increases abundance	1
K 7174	increases expression	1
abrine	decreases expression	1
2-methyl-2H-pyrazole-3-carboxylic acid (2-methyl-4-o-tolylazophenyl)amide	decreases reaction, increases expression	1
Sunitinib	increases expression	1
Vehicle Emissions	decreases reaction, increases expression	1
Benzo(a)pyrene	increases mutagenesis	1
Calcitriol	decreases expression	1
Fluorouracil	decreases expression	1
Gallic Acid	decreases expression	1
Manganese	decreases expression, increases abundance, affects cotreatment	1
Progesterone	decreases expression	1
Smoke	decreases expression	1
Tobacco Smoke Pollution	decreases expression	1
Tretinoin	decreases expression	1
Asbestos, Crocidolite	increases expression	1
Antirheumatic Agents	decreases expression	1
Cadmium Chloride	decreases expression	1
Particulate Matter	decreases reaction, increases expression	1

Clinical trials (associated diseases)

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