FARP2

Summary

FARP2 (FERM, ARH/RhoGEF and pleckstrin domain protein 2, HGNC:16460) is a protein-coding gene on chromosome 2q37.3, encoding FERM, ARHGEF and pleckstrin domain-containing protein 2 (O94887). Functions as a guanine nucleotide exchange factor that activates RAC1.

Enables guanyl-nucleotide exchange factor activity. Acts upstream of or within Rac protein signal transduction and neuron remodeling. Located in cytoplasm.

Source: NCBI Gene 9855 — RefSeq curated summary.

At a glance

• GWAS associations: 23
• Clinical variants (ClinVar): 262 total — 1 pathogenic, 1 likely-pathogenic
• MANE Select transcript: NM_014808

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:16460
Approved symbol	FARP2
Name	FERM, ARH/RhoGEF and pleckstrin domain protein 2
Location	2q37.3
Locus type	gene with protein product
Status	Approved
Aliases	KIAA0793, FIR, PLEKHC3, FRG
Ensembl gene	ENSG00000006607
Ensembl biotype	protein_coding
OMIM	617586
Entrez	9855

Gene structure

Transcript identifiers

Ensembl transcripts: 33 — 19 protein_coding, 7 protein_coding_CDS_not_defined, 7 retained_intron

ENST00000264042, ENST00000373287, ENST00000412332, ENST00000413432, ENST00000418082, ENST00000422951, ENST00000444371, ENST00000445489, ENST00000464142, ENST00000467260, ENST00000470617, ENST00000471447, ENST00000473082, ENST00000473510, ENST00000476799, ENST00000478489, ENST00000479427, ENST00000485051, ENST00000486736, ENST00000491425, ENST00000492868, ENST00000496470, ENST00000627550, ENST00000903052, ENST00000903053, ENST00000903054, ENST00000903055, ENST00000903056, ENST00000903057, ENST00000903058, ENST00000903059, ENST00000903060, ENST00000949506

RefSeq mRNA: 3 — MANE Select: NM_014808 NM_001282983, NM_001282984, NM_014808

CCDS: CCDS33424, CCDS63197, CCDS63198

Canonical transcript exons

ENST00000264042 — 27 exons

Exon	Start	End
ENSE00000787365	241463899	241463980
ENSE00000787369	241441304	241441556
ENSE00000787370	241436481	241436538
ENSE00000787371	241434962	241435030
ENSE00000787377	241407537	241407615
ENSE00000894155	241411033	241411130
ENSE00000894159	241434158	241434321
ENSE00000894161	241456747	241456922
ENSE00000894163	241463335	241463468
ENSE00000894165	241468140	241468377
ENSE00001884878	241494008	241494841
ENSE00001947807	241356285	241356388
ENSE00003462692	241462523	241462612
ENSE00003479622	241475857	241475987
ENSE00003484366	241484242	241484331
ENSE00003499239	241373084	241373290
ENSE00003505058	241491516	241491679
ENSE00003515267	241431679	241431774
ENSE00003516303	241489962	241490044
ENSE00003522185	241403828	241403932
ENSE00003569992	241493293	241493444
ENSE00003581400	241491061	241491179
ENSE00003598221	241483465	241483533
ENSE00003622075	241492929	241493036
ENSE00003657874	241417962	241418109
ENSE00003677575	241404799	241404841
ENSE00003692327	241413307	241413421

Expression profiles

Bgee: expression breadth ubiquitous, 267 present calls, max score 94.05.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 17.0133 / max 134.3740, expressed in 1811 samples.

FANTOM5 promoters (5 alternative TSS)

Promoter ID	TPM avg	Samples expressed
26529	12.7352	1795
26530	4.0044	1564
26533	0.2150	71
26531	0.0478	19
26532	0.0107	5

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
colonic epithelium	UBERON:0000397	94.05	gold quality
adrenal tissue	UBERON:0018303	93.47	gold quality
sural nerve	UBERON:0015488	93.41	gold quality
right testis	UBERON:0004534	93.31	gold quality
left testis	UBERON:0004533	93.20	gold quality
right hemisphere of cerebellum	UBERON:0014890	91.77	gold quality
cerebellar hemisphere	UBERON:0002245	91.73	gold quality
cerebellar cortex	UBERON:0002129	91.69	gold quality
testis	UBERON:0000473	91.50	gold quality
skin of leg	UBERON:0001511	91.38	gold quality
skin of abdomen	UBERON:0001416	91.14	gold quality
rectum	UBERON:0001052	91.08	gold quality
mucosa of sigmoid colon	UBERON:0004993	90.70	gold quality
colonic mucosa	UBERON:0000317	90.59	gold quality
mucosa of transverse colon	UBERON:0004991	90.58	gold quality
cerebellum	UBERON:0002037	90.47	gold quality
calcaneal tendon	UBERON:0003701	90.21	gold quality
zone of skin	UBERON:0000014	89.53	gold quality
corpus callosum	UBERON:0002336	89.19	gold quality
transverse colon	UBERON:0001157	88.94	gold quality
secondary oocyte	CL:0000655	88.75	gold quality
islet of Langerhans	UBERON:0000006	88.24	gold quality
tonsil	UBERON:0002372	88.14	gold quality
duodenum	UBERON:0002114	87.87	gold quality
buccal mucosa cell	CL:0002336	87.80	gold quality
stomach	UBERON:0000945	87.59	gold quality
small intestine	UBERON:0002108	87.56	gold quality
ventricular zone	UBERON:0003053	87.55	gold quality
right uterine tube	UBERON:0001302	87.54	gold quality
tibial nerve	UBERON:0001323	87.45	gold quality

Single-cell (SCXA)

Detected in 3 experiment(s), a significant marker in 1.

Experiment	Marker?	Max mean expression
E-ANND-3	yes	6.76
E-MTAB-6058	no	152.64
E-MTAB-7249	no	48.86

Regulation

Is transcription factor: yes

Downstream targets (CollecTRI)

1 targets.

Target	Regulation
SOD2	Activation

miRNA regulators (miRDB)

18 targeting FARP2, 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-4673	100.00	66.64	1490
HSA-MIR-4645-5P	99.98	65.81	1284
HSA-MIR-545-3P	99.95	70.74	2783
HSA-MIR-4671-3P	99.88	72.46	1045
HSA-MIR-5010-3P	99.83	70.60	2357
HSA-MIR-6513-5P	99.43	67.81	1071
HSA-MIR-4478	99.07	65.16	2320
HSA-MIR-4709-3P	98.88	68.04	1594
HSA-MIR-4782-5P	98.35	69.33	1474
HSA-MIR-5706	98.35	69.33	1463
HSA-MIR-3929	98.32	65.58	1026
HSA-MIR-6787-3P	97.75	66.17	1233
HSA-MIR-22-5P	97.67	68.92	1355
HSA-MIR-6772-3P	97.04	65.89	784
HSA-MIR-2114-5P	96.00	64.56	617
HSA-MIR-4471	95.11	66.84	755
HSA-MIR-8059	95.11	66.30	646
HSA-MIR-1229-5P	94.57	65.78	487

Literature-anchored findings (GeneRIF, showing 2)

• FRG is a member of Cdc42-GEF and plays an important role in the signaling pathway downstream of G protein-coupled receptors (PMID:12771149)
• FARP2 is shown to promote GTP loading of Cdc42, which is consistent with it being involved in upstream regulation of the polarising PAR6-aPKCiota complex. (PMID:30872454)

Cross-species orthologs

5 orthologs

Organism	Symbol	Gene ID
danio_rerio	farp2	ENSDARG00000016429
mus_musculus	Farp2	ENSMUSG00000034066
rattus_norvegicus	Farp2	ENSRNOG00000018051
caenorhabditis_elegans		WBGENE00001366
caenorhabditis_elegans		WBGENE00001490

Paralogs (10): FGD1 (ENSG00000102302), FGD3 (ENSG00000127084), ARHGEF39 (ENSG00000137135), FGD4 (ENSG00000139132), FGD2 (ENSG00000146192), FARP1 (ENSG00000152767), FGD5 (ENSG00000154783), FRMD7 (ENSG00000165694), FGD6 (ENSG00000180263), ECT2L (ENSG00000203734)

Protein

Protein identifiers

FERM, ARHGEF and pleckstrin domain-containing protein 2 — O94887 (reviewed: O94887)

Alternative names: FERM domain-including RhoGEF, FERM, RhoGEF and pleckstrin domain-containing protein 2, Pleckstrin homology domain-containing family C member 3

All UniProt accessions (7): O94887, C9JVQ5, C9JWM9, H7C210, H7C3E4, H7C3M7, H7C447

UniProt curated annotations — full annotation on UniProt →

Function. Functions as a guanine nucleotide exchange factor that activates RAC1. May have relatively low activity. Plays a role in the response to class 3 semaphorins and remodeling of the actin cytoskeleton. Plays a role in TNFSF11-mediated osteoclast differentiation, especially in podosome rearrangement and reorganization of the actin cytoskeleton. Regulates the activation of ITGB3, integrin signaling and cell adhesion.

Subunit / interactions. Interacts with PLXNA1. Interaction with PLXNA1 or PIP5K1C lowers its guanine nucleotide exchange activity. Dissociates from PLXNA1 when SEMA3A binds to the receptor. Interacts with PIP5K1C via its FERM domain. The interaction with PIP5K1C is enhanced by SEMA3A binding. Interacts with RAC1.

Domain organisation. Intramolecular interaction between the DH domain and the PH domains can stabilize the protein in an autoinhibited conformation.

Isoforms (3)

UniProt ID	Names	Canonical?
O94887-1	1	yes
O94887-2	2
O94887-3	3

RefSeq proteins (3): NP_001269912, NP_001269913, NP_055623* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR000219	DH_dom	Domain
IPR000299	FERM_domain	Domain
IPR000798	Ez/rad/moesin-like	Family
IPR001849	PH_domain	Domain
IPR011993	PH-like_dom_sf	Homologous_superfamily
IPR014352	FERM/acyl-CoA-bd_prot_sf	Homologous_superfamily
IPR014847	FA	Domain
IPR018979	FERM_N	Domain
IPR018980	FERM_PH-like_C	Domain
IPR019747	FERM_CS	Conserved_site
IPR019748	FERM_central	Domain
IPR019749	Band_41_domain	Domain
IPR029071	Ubiquitin-like_domsf	Homologous_superfamily
IPR035899	DBL_dom_sf	Homologous_superfamily
IPR035963	FERM_2	Homologous_superfamily
IPR041788	FARP1/FARP2/FRMD7_FERM_C	Domain
IPR051835	RAC1-GEF	Family

Pfam: PF00169, PF00373, PF00621, PF08736, PF09379, PF09380

UniProt features (19 total): domain 4, splice variant 4, sequence variant 3, region of interest 3, modified residue 2, chain 1, sequence conflict 1, compositionally biased region 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-O94887-F1	76.34	0.56

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): 439, 389

Function

Pathways and Gene Ontology

Reactome pathways

3 pathways

ID	Pathway
R-HSA-399955	SEMA3A-Plexin repulsion signaling by inhibiting Integrin adhesion
R-HSA-9013149	RAC1 GTPase cycle
R-HSA-9958810	SRC activates STAT3 in a quantitative manner, through Cadherin-11 (CDH11), RAC1 and gp130 (IL6ST)

MSigDB gene sets: 154 (showing top): GOBP_MYELOID_CELL_DIFFERENTIATION, GOBP_NEURON_MATURATION, LINDGREN_BLADDER_CANCER_CLUSTER_3_DN, GOBP_NEUROGENESIS, GOBP_MYELOID_LEUKOCYTE_DIFFERENTIATION, GOBP_REGULATION_OF_CELLULAR_COMPONENT_BIOGENESIS, BROWNE_HCMV_INFECTION_48HR_DN, GOBP_ANATOMICAL_STRUCTURE_MATURATION, GOBP_CELL_MATURATION, GOBP_REGULATION_OF_PROTEIN_CONTAINING_COMPLEX_ASSEMBLY, GOBP_ORGANELLE_ASSEMBLY, GOBP_MOLTING_CYCLE, DODD_NASOPHARYNGEAL_CARCINOMA_UP, GOBP_SEMAPHORIN_PLEXIN_SIGNALING_PATHWAY, MODULE_207

GO Biological Process (11): cell adhesion (GO:0007155), neuron remodeling (GO:0016322), Rac protein signal transduction (GO:0016601), hair cycle process (GO:0022405), actin cytoskeleton organization (GO:0030036), osteoclast differentiation (GO:0030316), regulation of integrin activation (GO:0033623), semaphorin-plexin signaling pathway (GO:0071526), podosome assembly (GO:0071800), signal transduction (GO:0007165), cell development (GO:0048468)

GO Molecular Function (2): guanyl-nucleotide exchange factor activity (GO:0005085), cytoskeletal protein binding (GO:0008092)

GO Cellular Component (3): cytoplasm (GO:0005737), cytosol (GO:0005829), cytoskeleton (GO:0005856)

Reactome top-level categories

Rollup of top-3 pathways:

Category	Pathways
Semaphorin interactions	1
RHO GTPase cycle	1
Activation of STAT3 by cadherin engagement	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular process	2
cellular anatomical structure	2
neuron maturation	1
small GTPase-mediated signal transduction	1
molting cycle process	1
hair cycle	1
cytoskeleton organization	1
actin filament-based process	1
myeloid leukocyte differentiation	1
integrin activation	1
regulation of protein-containing complex assembly	1
cell surface receptor signaling pathway	1
protein-containing complex assembly	1
plasma membrane bounded cell projection assembly	1
cell communication	1
signaling	1
regulation of cellular process	1
cellular response to stimulus	1
cell differentiation	1
anatomical structure development	1
cellular developmental process	1
GTP binding	1
GDP binding	1
GTPase regulator activity	1
protein binding	1
intracellular anatomical structure	1
cytoplasm	1
intracellular membraneless organelle	1

Protein interactions and networks

STRING

952 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
FARP2	PLXNA1	Q9UIW2	735
FARP2	PLXNA4	Q9HCM2	674
FARP2	SEMA3A	Q14563	670
FARP2	CFAP99	D6REC4	561
FARP2	FES	P07332	555
FARP2	PLXNA2	O75051	552
FARP2	RND1	Q92730	492
FARP2	THAP4	Q8WY91	487
FARP2	STK25	O00506	474
FARP2	DOCK3	Q8IZD9	468
FARP2	HDLBP	Q00341	443
FARP2	ANKMY1	Q9P2S6	443
FARP2	PLEK2	Q9NYT0	441
FARP2	PLEK	P08567	430
FARP2	NEDD9	Q14511	420

IntAct

53 interactions, top by confidence:

A	B	Type	Score
GPR156	PLD2	psi-mi:“MI:0914”(association)	0.640
PLK1	C1orf226	psi-mi:“MI:0914”(association)	0.560
PRKCZ	IPO5	psi-mi:“MI:0914”(association)	0.530
CSNK1E	ZSWIM8	psi-mi:“MI:0914”(association)	0.530
MAGEB2	POLRMT	psi-mi:“MI:0914”(association)	0.530
PTGER3	PIK3R2	psi-mi:“MI:0914”(association)	0.530
CHRM3	PLD2	psi-mi:“MI:0914”(association)	0.530
PRICKLE3	SIAH2	psi-mi:“MI:0914”(association)	0.530
MISP	OBSL1	psi-mi:“MI:0914”(association)	0.530
GAR1	PRMT5	psi-mi:“MI:0914”(association)	0.530
KCNE3	RIOK3	psi-mi:“MI:0914”(association)	0.530
PIP	TBKBP1	psi-mi:“MI:0914”(association)	0.530
Plxna4	FARP2	psi-mi:“MI:0915”(physical association)	0.400
FARP2	UBE2G2	psi-mi:“MI:0915”(physical association)	0.370
Xpo1	IFT56	psi-mi:“MI:0914”(association)	0.350
RIPK4	VWA8	psi-mi:“MI:0914”(association)	0.350
NS1		psi-mi:“MI:0914”(association)	0.350
HSCB	RBP5	psi-mi:“MI:0914”(association)	0.350
ESR1	ESYT2	psi-mi:“MI:0914”(association)	0.350
CHN1	FARP2	psi-mi:“MI:0914”(association)	0.350
pipB	FARP2	psi-mi:“MI:0914”(association)	0.350
FGFR3	U2SURP	psi-mi:“MI:0914”(association)	0.350
ARRDC2	ZSWIM8	psi-mi:“MI:0914”(association)	0.350
ARRDC3	ESYT2	psi-mi:“MI:0914”(association)	0.350
CLNS1A	EPB41	psi-mi:“MI:0914”(association)	0.350
PSPC1	MCRIP1	psi-mi:“MI:0914”(association)	0.350
SRP9	RPS3A	psi-mi:“MI:0914”(association)	0.350
PIP	RBM47	psi-mi:“MI:0914”(association)	0.350

BioGRID (113): FARP2 (Affinity Capture-MS), FARP2 (Affinity Capture-MS), RPS27A (Affinity Capture-MS), TRIM41 (Affinity Capture-MS), FARP2 (Affinity Capture-MS), CLNS1A (Affinity Capture-MS), PRMT5 (Affinity Capture-MS), FARP2 (Affinity Capture-MS), FARP2 (Affinity Capture-MS), RIOK1 (Affinity Capture-MS), FARP2 (Affinity Capture-MS), COPRS (Affinity Capture-MS), PRKCI (Affinity Capture-MS), CCDC88A (Affinity Capture-MS), C17orf85 (Affinity Capture-MS)

ESM2 similar proteins: A0AVI2, A0FGR9, A2AP18, A3KGK3, A6QQP7, F1LYQ8, F8VPU2, O00329, O08835, O14976, O15068, O35904, O75038, O75923, O94887, P19687, P40749, P50232, P58069, P97610, P97874, Q14644, Q15283, Q28013, Q5DTI8, Q5FWL4, Q5M7N9, Q5RAB8, Q5RJH2, Q60790, Q63406, Q63713, Q64096, Q6DN12, Q6P7F1, Q7L8C5, Q7ZWU7, Q8IV01, Q8VHQ7, Q91VS8

Diamond homologs: A2A2Y4, A2AD83, A2ALK8, B2RYE5, F1LYQ8, F1P065, F8VPU2, O43491, O57457, O70318, O94887, P11171, P11434, P26045, P28191, P29074, P48193, P52963, Q0P4Q4, Q54K81, Q58CU2, Q5FVG2, Q5R803, Q5RAB8, Q6P5H6, Q6Q7P4, Q6ZUT3, Q7Z6J6, Q8BGS1, Q8BHD4, Q91VS8, Q9H329, Q9H4G0, Q9HCM4, Q9HCS5, Q9JMC8, Q9MYU8, Q9N179, Q9V8R9, Q9WTP0

SIGNOR signaling

1 interactions.

A	Effect	B	Mechanism
FARP2	“up-regulates quantity by expression”	SOD2	“transcriptional regulation”

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	1
Likely pathogenic	1
Uncertain significance	199
Likely benign	29
Benign	8

Top pathogenic / likely-pathogenic (2)

Variant ID	HGVS	Classification
625779	GRCh37/hg19 2q37.2-37.3(chr2:237028693-242708080)	Pathogenic
814383	GRCh37/hg19 2q37.3(chr2:242177268-242478356)x1	Likely pathogenic

SpliceAI

5303 predictions. Top by Δscore:

Variant	Effect	Δscore
2:241356387:GG:G	donor_gain	1.0000
2:241356388:GG:G	donor_gain	1.0000
2:241356394:G:GT	donor_gain	1.0000
2:241373077:A:AG	acceptor_gain	1.0000
2:241373078:T:G	acceptor_gain	1.0000
2:241373082:A:AG	acceptor_gain	1.0000
2:241373082:AGT:A	acceptor_gain	1.0000
2:241373083:G:GT	acceptor_gain	1.0000
2:241373083:GT:G	acceptor_gain	1.0000
2:241373083:GTG:G	acceptor_gain	1.0000
2:241373083:GTGT:G	acceptor_gain	1.0000
2:241373083:GTGTT:G	acceptor_gain	1.0000
2:241373287:TGAGG:T	donor_loss	1.0000
2:241373288:GAG:G	donor_gain	1.0000
2:241373289:AGG:A	donor_loss	1.0000
2:241373290:GGTAA:G	donor_loss	1.0000
2:241373291:G:GG	donor_gain	1.0000
2:241373291:GT:G	donor_loss	1.0000
2:241373292:T:G	donor_loss	1.0000
2:241403825:C:G	acceptor_gain	1.0000
2:241403826:A:AG	acceptor_gain	1.0000
2:241403827:G:GA	acceptor_gain	1.0000
2:241403827:GCCT:G	acceptor_gain	1.0000
2:241403827:GCCTA:G	acceptor_gain	1.0000
2:241411022:C:G	acceptor_gain	1.0000
2:241411031:A:AG	acceptor_gain	1.0000
2:241411032:G:GT	acceptor_gain	1.0000
2:241411032:GA:G	acceptor_gain	1.0000
2:241411032:GAT:G	acceptor_gain	1.0000
2:241411032:GATA:G	acceptor_gain	1.0000

AlphaMissense

6917 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
2:241431706:T:A	W267R	1.000
2:241431706:T:C	W267R	1.000
2:241431746:T:C	F280S	0.999
2:241434183:T:C	F298S	0.999
2:241434218:T:A	W310R	0.999
2:241434218:T:C	W310R	0.999
2:241491083:T:A	W843R	0.999
2:241491083:T:C	W843R	0.999
2:241418092:G:C	G252R	0.998
2:241431708:G:C	W267C	0.998
2:241431708:G:T	W267C	0.998
2:241431730:T:C	F275L	0.998
2:241431732:C:A	F275L	0.998
2:241431732:C:G	F275L	0.998
2:241434211:G:C	K307N	0.998
2:241434211:G:T	K307N	0.998
2:241434220:G:C	W310C	0.998
2:241434220:G:T	W310C	0.998
2:241491085:G:C	W843C	0.998
2:241491085:G:T	W843C	0.998
2:241492955:A:C	R938S	0.998
2:241492955:A:T	R938S	0.998
2:241407572:T:C	F123L	0.997
2:241407574:T:A	F123L	0.997
2:241407574:T:G	F123L	0.997
2:241431719:G:C	R271P	0.997
2:241434208:T:G	C306W	0.997
2:241491644:A:C	S918R	0.997
2:241491646:C:A	S918R	0.997
2:241491646:C:G	S918R	0.997

dbSNP variants (sampled 300 via entrez): RS1000052552 (2:241447150 T>C), RS1000060315 (2:241380163 A>G), RS1000061793 (2:241470009 C>T), RS1000072468 (2:241370667 A>G), RS1000084117 (2:241488408 CT>C), RS1000101897 (2:241449239 T>A), RS1000136513 (2:241488000 G>A), RS1000146931 (2:241457348 G>A), RS1000150822 (2:241383979 A>G), RS1000169603 (2:241465537 G>A,T), RS1000183885 (2:241384278 C>G,T), RS1000184994 (2:241427911 C>T), RS1000200228 (2:241429315 T>C), RS1000261184 (2:241387957 A>G,T), RS1000286821 (2:241474568 A>G)

Disease associations

OMIM: gene MIM:617586 | 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

23 associations (top):

Study	Trait	p-value
GCST001942_6	Prostate cancer	5.000000e-09
GCST002073_13	Chronic lymphocytic leukemia	1.000000e-07
GCST002147_7	Fibrinogen	2.000000e-09
GCST002938_9	Copper levels	8.000000e-07
GCST004122_16	Fibrinogen levels	4.000000e-12
GCST004146_5	Chronic lymphocytic leukemia	9.000000e-12
GCST004600_180	Eosinophil percentage of white cells	6.000000e-14
GCST004606_55	Eosinophil count	2.000000e-15
GCST004617_75	Eosinophil percentage of granulocytes	3.000000e-13
GCST004623_169	Neutrophil percentage of granulocytes	7.000000e-14
GCST004624_62	Sum eosinophil basophil counts	2.000000e-15
GCST004785_21	Vitiligo	4.000000e-09
GCST006624_59	Systolic blood pressure	1.000000e-12
GCST009526_1	Disability (impaired activities of daily living)	8.000000e-06
GCST010145_13	Cerebrospinal fluid immune biomarker levels	1.000000e-08
GCST010173_144	Triglyceride levels	7.000000e-09
GCST010244_142	Triglyceride levels	1.000000e-12
GCST010989_211	Body size at age 10	1.000000e-08
GCST90002381_127	Eosinophil count	3.000000e-33
GCST90002382_90	Eosinophil percentage of white cells	9.000000e-16
GCST90002382_91	Eosinophil percentage of white cells	7.000000e-12
GCST90013445_22	Type 1 diabetes	3.000000e-11
GCST90013445_36	Type 1 diabetes	3.000000e-11

EFO canonical traits (10, from GWAS)

EFO ID	Trait name
EFO:0007991	eosinophil percentage of leukocytes
EFO:0004842	eosinophil count
EFO:0007996	eosinophil percentage of granulocytes
EFO:0007994	neutrophil percentage of granulocytes
EFO:0005090	basophil count
EFO:0006335	systolic blood pressure
EFO:0008451	activities of daily living score measurement
EFO:0008191	obsolete_interleukin 8 measurement
EFO:0004530	triglyceride measurement
EFO:0009819	comparative body size at age 10, self-reported

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)

PharmGKB clinical annotations

1 annotations.

Variant	Type	Level	Drugs	Phenotypes
rs757978	Efficacy	3	methylphenidate	Attention Deficit Disorder with Hyperactivity

PharmGKB variants

1 variants.

Variant	Genes	Level	Score	#Clin annots	Drugs
rs757978	FARP2	3	0.00	1	methylphenidate

CTD chemical–gene interactions

21 total (human), top 21 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
bisphenol A	affects cotreatment, increases methylation, decreases expression, increases expression	3
Benzo(a)pyrene	affects methylation, increases expression, increases methylation	2
triphenyl phosphate	affects expression	1
tris(1,3-dichloro-2-propyl)phosphate	decreases expression	1
CGP 52608	affects binding, increases reaction	1
entinostat	increases expression	1
abrine	decreases expression	1
asparanin A	decreases expression	1
Fulvestrant	affects cotreatment, increases methylation	1
Acetaminophen	increases expression	1
Air Pollutants	decreases expression	1
Amiodarone	increases expression	1
Caffeine	affects phosphorylation	1
Diazinon	increases methylation	1
Doxorubicin	decreases expression	1
Quercetin	increases expression	1
Silicon Dioxide	decreases expression	1
Tretinoin	decreases expression	1
Urethane	increases expression	1
Okadaic Acid	increases expression	1
p-Chloromercuribenzoic Acid	increases 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