DEF6

Summary

DEF6 (DEF6 guanine nucleotide exchange factor, HGNC:2760) is a protein-coding gene on chromosome 6p21.31, encoding Differentially expressed in FDCP 6 homolog (Q9H4E7). Phosphatidylinositol 3,4,5-trisphosphate-dependent guanine nucleotide exchange factor (GEF) which plays a role in the activation of Rho GTPases RAC1, RhoA and CDC42.

DEF6, or IBP, is a guanine nucleotide exchange factor (GEF) for RAC (MIM 602048) and CDC42 (MIM 116952) that is highly expressed in B and T cells (Gupta et al., 2003 [PubMed 12923183]).

Source: NCBI Gene 50619 — RefSeq curated summary.

At a glance

• Gene–disease (curated): immunodeficiency 87 and autoimmunity (Strong, GenCC)
• GWAS associations: 19
• Clinical variants (ClinVar): 399 total — 8 pathogenic, 1 likely-pathogenic
• MANE Select transcript: NM_022047

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:2760
Approved symbol	DEF6
Name	DEF6 guanine nucleotide exchange factor
Location	6p21.31
Locus type	gene with protein product
Status	Approved
Aliases	IBP, SLAT, SWAP70L
Ensembl gene	ENSG00000023892
Ensembl biotype	protein_coding
OMIM	610094
Entrez	50619

Gene structure

Transcript identifiers

Ensembl transcripts: 17 — 13 protein_coding, 2 nonsense_mediated_decay, 1 retained_intron, 1 protein_coding_CDS_not_defined

ENST00000316637, ENST00000444278, ENST00000468102, ENST00000698929, ENST00000698930, ENST00000698931, ENST00000852040, ENST00000852041, ENST00000852042, ENST00000852043, ENST00000852044, ENST00000852045, ENST00000852046, ENST00000931846, ENST00000931847, ENST00000931848, ENST00000945348

RefSeq mRNA: 1 — MANE Select: NM_022047 NM_022047

CCDS: CCDS4802

Canonical transcript exons

ENST00000316637 — 11 exons

Exon	Start	End
ENSE00000849617	35312626	35312772
ENSE00001886596	35297818	35297952
ENSE00003591116	35310459	35310644
ENSE00003622661	35309670	35309810
ENSE00003788559	35312302	35312538
ENSE00003975209	35320884	35320974
ENSE00003975211	35319819	35320017
ENSE00003975213	35318173	35318471
ENSE00003975218	35319524	35319690
ENSE00003975223	35321187	35321771
ENSE00003975225	35317891	35317999

Expression profiles

Bgee: expression breadth ubiquitous, 213 present calls, max score 98.90.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 17.5626 / max 386.9554, expressed in 1167 samples.

FANTOM5 promoters (3 alternative TSS)

Promoter ID	TPM avg	Samples expressed
67421	16.2049	1146
67422	0.7441	254
67423	0.6137	259

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
granulocyte	CL:0000094	98.90	gold quality
blood	UBERON:0000178	96.04	gold quality
monocyte	CL:0000576	95.41	gold quality
spleen	UBERON:0002106	95.40	gold quality
leukocyte	CL:0000738	95.15	gold quality
mononuclear cell	CL:0000842	95.03	gold quality
lymph node	UBERON:0000029	94.68	gold quality
lower esophagus mucosa	UBERON:0035834	94.41	gold quality
skin of abdomen	UBERON:0001416	91.45	gold quality
vermiform appendix	UBERON:0001154	91.36	gold quality
skin of leg	UBERON:0001511	90.90	gold quality
esophagus mucosa	UBERON:0002469	90.62	gold quality
small intestine Peyer’s patch	UBERON:0003454	89.28	gold quality
body of pancreas	UBERON:0001150	89.01	gold quality
bone marrow	UBERON:0002371	88.90	gold quality
tonsil	UBERON:0002372	88.36	gold quality
mucosa of transverse colon	UBERON:0004991	88.18	gold quality
zone of skin	UBERON:0000014	88.17	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	87.84	gold quality
minor salivary gland	UBERON:0001830	87.83	gold quality
caecum	UBERON:0001153	87.78	gold quality
bone marrow cell	CL:0002092	87.61	gold quality
right testis	UBERON:0004534	87.38	gold quality
left testis	UBERON:0004533	87.11	gold quality
mouth mucosa	UBERON:0003729	86.56	gold quality
saliva-secreting gland	UBERON:0001044	86.51	gold quality
small intestine	UBERON:0002108	86.18	gold quality
sperm	CL:0000019	85.88	gold quality
upper lobe of left lung	UBERON:0008952	85.73	gold quality
body of stomach	UBERON:0001161	85.71	gold quality

Single-cell (SCXA)

Detected in 2 experiment(s), a significant marker in 1.

Experiment	Marker?	Max mean expression
E-ANND-3	yes	4.71
E-CURD-112	no	3.80

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): HAND2

miRNA regulators (miRDB)

17 targeting DEF6, 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-6873-3P	100.00	71.42	2626
HSA-MIR-4487	99.96	64.58	1252
HSA-MIR-6892-3P	99.68	66.40	1178
HSA-MIR-452-5P	99.65	69.63	1762
HSA-MIR-4676-3P	99.65	69.31	1733
HSA-MIR-892C-3P	99.65	69.38	1745
HSA-MIR-513C-5P	99.50	68.42	1730
HSA-MIR-514B-5P	99.50	68.19	1766
HSA-MIR-2117	98.48	67.97	1307
HSA-MIR-4456	97.50	64.88	1678
HSA-MIR-3201	97.16	65.42	1044
HSA-MIR-6736-3P	96.98	65.22	1342
HSA-MIR-4791	96.51	67.76	659
HSA-MIR-3690	96.44	65.18	737
HSA-MIR-3165	96.18	66.22	473
HSA-MIR-3918	96.13	64.65	1300
HSA-MIR-584-5P	95.82	68.05	848

Literature-anchored findings (GeneRIF, showing 12)

• Molecular cloning of IBP, a guanine nucleotide exchange factor, which is highly expressed in the immune system. (PMID:12651066)
• IBP is a novel guanine nucleotide exchange factor and is recruited to the immunological synapse by T cell receptor engagement (PMID:12923183)
• DEF6, a novel PH-DH-like domain protein, is an upstream activator of the Rho GTPases Rac1, Cdc42, and RhoA. (PMID:15023524)
• DEF6 not only activates Rho-family GTPases but also cooperates with activated Rac1 to exert its cellular function (PMID:17121847)
• level of expression correlates with the degree of malignancy in breast carcinoma tissues (PMID:19393345)
• Overexpression of the Interferon regulatory factor 4-binding protein is associated with Colorectal Carcinoma. (PMID:19679060)
• DEF6, a novel substrate for the Tec kinase ITK, contains a glutamine-rich aggregation-prone region and forms cytoplasmic granules that co-localize with P-bodies. (PMID:22829599)
• IBP was expressed ectopically in someoral squamous cell carcinoma samples and correlated significantly with tumor size, differentiation, clinical stage and distant metastases (PMID:23088770)
• DEF6 expression may serve as an independent prognostic factor, and interacted positively with p16 toward high tumor stage and shorter survival. (PMID:27488395)
• this study identifies Def6 as a novel inhibitor of osteoclastogenesis in physiological and inflammatory conditions (PMID:28314855)
• DEF6 deficiency, a mendelian susceptibility to EBV infection, lymphoma, and autoimmunity. (PMID:32562707)
• High expression levels of DEF6 predicts a poor prognosis for patients with clear cell renal cell carcinoma. (PMID:33000227)

Cross-species orthologs

5 orthologs

Organism	Symbol	Gene ID
danio_rerio	def6a	ENSDARG00000012247
danio_rerio	def6b	ENSDARG00000044524
mus_musculus	Def6	ENSMUSG00000002257
rattus_norvegicus	Def6	ENSRNOG00000000502
caenorhabditis_elegans		WBGENE00009292

Paralogs (2): SWAP70 (ENSG00000133789), PLEKHD1 (ENSG00000175985)

Protein

Protein identifiers

Differentially expressed in FDCP 6 homolog — Q9H4E7 (reviewed: Q9H4E7)

Alternative names: IRF4-binding protein

All UniProt accessions (4): A0A8V8TMY0, A0A8V8TNX4, Q9H4E7, H0Y7V7

UniProt curated annotations — full annotation on UniProt →

Function. Phosphatidylinositol 3,4,5-trisphosphate-dependent guanine nucleotide exchange factor (GEF) which plays a role in the activation of Rho GTPases RAC1, RhoA and CDC42. Can regulate cell morphology in cooperation with activated RAC1. Involved in immune homeostasis by ensuring proper trafficking and availability of T-cell regulator CTLA-4 at T-cell surface. Plays a role in Th2 (T helper cells) development and/or activation, perhaps by interfering with ZAP70 signaling.

Subunit / interactions. Interacts with ZAP70. Interacts with IRF4, activated RAC1 and F-actin. Both the phosphorylated and non-phosphorylated forms bind phosphatidylinositol 3,4,5-trisphosphate (PtdInsP3). Interacts with RAB11A.

Subcellular location. Cytoplasm. Cell membrane. Nucleus. Cytoskeleton. Perinuclear region. Cell projection. Filopodium.

Tissue specificity. Broadly expressed in the immune system. Highly expressed in T cells.

Post-translational modifications. Tyrosine-phosphorylated by tyrosine-protein kinase LCK in response to T-cell activation.

Disease relevance. Immunodeficiency 87 and autoimmunity (IMD87) [MIM:619573] An autosomal recessive disorder with onset in infancy or early childhood. It is characterized by increased susceptibility to infections, often Epstein-Barr virus, as well as lymphadenopathy or autoimmune manifestations, predominantly hemolytic anemia. The disorder results primarily from defects in T-cell function. The disease is caused by variants affecting the gene represented in this entry.

Domain organisation. The PH domain is essential for phosphatidylinositol 3,4,5-trisphosphate binding.

RefSeq proteins (1): NP_071330* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR001849	PH_domain	Domain
IPR011992	EF-hand-dom_pair	Homologous_superfamily
IPR011993	PH-like_dom_sf	Homologous_superfamily
IPR057836	EF-hand_SWAP70_N	Domain
IPR057837	PH_SWAP70	Domain

Pfam: PF00169, PF25530

UniProt features (25 total): compositionally biased region 6, mutagenesis site 6, sequence variant 5, modified residue 3, region of interest 3, chain 1, domain 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9H4E7-F1	78.91	0.37

Functional residue map

Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.

Post-translational modifications (3): 210, 225, 590

Mutagenesis-validated functional residues (6):

Position	Phenotype
18	abolishes interaction with rac1.
31–33	abolishes interaction with rac1.
210	loss of phosphorylation by lck and abolition of ptdinsp3 binding.
225–226	abolishes ptdinsp3 binding.
230–231	abolishes ptdinsp3 binding.
236	abolishes ptdinsp3 binding.

Function

Pathways and Gene Ontology

Reactome pathways

4 pathways

ID	Pathway
R-HSA-8980692	RHOA GTPase cycle
R-HSA-9013148	CDC42 GTPase cycle
R-HSA-9013149	RAC1 GTPase cycle
R-HSA-9013404	RAC2 GTPase cycle

MSigDB gene sets: 268 (showing top): GSE18804_SPLEEN_MACROPHAGE_VS_COLON_TUMORAL_MACROPHAGE_UP, GOBP_REGULATION_OF_SMALL_GTPASE_MEDIATED_SIGNAL_TRANSDUCTION, GOBP_VESICLE_MEDIATED_TRANSPORT, AAAYRNCTG_UNKNOWN, CHANDRAN_METASTASIS_DN, SCHAEFFER_PROSTATE_DEVELOPMENT_48HR_DN, LIAO_METASTASIS, MYOD_Q6, RYTTCCTG_ETS2_B, E12_Q6, GOBP_LOCALIZATION_WITHIN_MEMBRANE, MARTORIATI_MDM4_TARGETS_FETAL_LIVER_UP, DANG_BOUND_BY_MYC, GOBP_SMALL_GTPASE_MEDIATED_SIGNAL_TRANSDUCTION, HAMAI_APOPTOSIS_VIA_TRAIL_DN

GO Biological Process (2): regulation of small GTPase mediated signal transduction (GO:0051056), vesicle-mediated transport to the plasma membrane (GO:0098876)

GO Molecular Function (2): guanyl-nucleotide exchange factor activity (GO:0005085), protein binding (GO:0005515)

GO Cellular Component (10): nucleus (GO:0005634), nucleoplasm (GO:0005654), cytoplasm (GO:0005737), cytosol (GO:0005829), cytoskeleton (GO:0005856), plasma membrane (GO:0005886), membrane (GO:0016020), filopodium (GO:0030175), perinuclear region of cytoplasm (GO:0048471), cell projection (GO:0042995)

Reactome top-level categories

Rollup of top-1 pathways:

Category	Pathways
RHO GTPase cycle	4

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	6
cytoplasm	2
small GTPase-mediated signal transduction	1
regulation of intracellular signal transduction	1
exocytosis	1
vesicle-mediated transport	1
localization within membrane	1
GTP binding	1
GDP binding	1
GTPase regulator activity	1
binding	1
intracellular membrane-bounded organelle	1
nuclear lumen	1
intracellular anatomical structure	1
intracellular membraneless organelle	1
membrane	1
cell periphery	1
actin-based cell projection	1

Protein interactions and networks

STRING

480 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
DEF6	IRF4	Q15306	821
DEF6	RABIF	P47224	602
DEF6	LCK	P06239	547
DEF6	ZAP70	P43403	531
DEF6	CDC42	P21181	528
DEF6	NFATC1	O95644	519
DEF6	TLN1	Q9Y490	514
DEF6	NFATC2	Q13469	508
DEF6	AKT1	P31749	502
DEF6	MCF2	P10911	467
DEF6	IL17A	Q16552	422
DEF6	LRBA	P50851	380
DEF6	ITK	Q08881	310
DEF6	TMEM19	Q96HH6	268
DEF6	ARHGEF6	Q15052	264

IntAct

87 interactions, top by confidence:

A	B	Type	Score
DEF6	PTK2	psi-mi:“MI:0915”(physical association)	0.720
PTK2	DEF6	psi-mi:“MI:0915”(physical association)	0.720
TCF4	DEF6	psi-mi:“MI:0915”(physical association)	0.670
DEF6	TCF4	psi-mi:“MI:0915”(physical association)	0.670
PLSCR1	DEF6	psi-mi:“MI:0915”(physical association)	0.560
DEF6	CDC42EP1	psi-mi:“MI:0915”(physical association)	0.560
HOMEZ	DEF6	psi-mi:“MI:0915”(physical association)	0.560
DEF6	PBXIP1	psi-mi:“MI:0915”(physical association)	0.560
DEF6	EIF4ENIF1	psi-mi:“MI:0915”(physical association)	0.560
PBXIP1	DEF6	psi-mi:“MI:0915”(physical association)	0.560
DEF6	HOMEZ	psi-mi:“MI:0915”(physical association)	0.560
CDC42EP1	DEF6	psi-mi:“MI:0915”(physical association)	0.560
RAPGEF4	DEF6	psi-mi:“MI:0915”(physical association)	0.560
GOLGA6L9	DEF6	psi-mi:“MI:0915”(physical association)	0.560
L3MBTL3	DEF6	psi-mi:“MI:0915”(physical association)	0.560
KIAA1328	DEF6	psi-mi:“MI:0915”(physical association)	0.560
CCDC88B	DEF6	psi-mi:“MI:0915”(physical association)	0.560
RASAL3	DEF6	psi-mi:“MI:0915”(physical association)	0.560

BioGRID (100): DEF6 (Two-hybrid), DEF6 (Two-hybrid), DEF6 (Two-hybrid), DEF6 (Two-hybrid), EIF4ENIF1 (Two-hybrid), PBXIP1 (Two-hybrid), HOMEZ (Two-hybrid), DCXR (Affinity Capture-MS), CHAMP1 (Affinity Capture-MS), ADD2 (Affinity Capture-MS), ARHGAP42 (Affinity Capture-MS), RBM45 (Affinity Capture-MS), MYCBP2 (Affinity Capture-MS), SMARCA1 (Affinity Capture-MS), BABAM1 (Affinity Capture-MS)

ESM2 similar proteins: A0PJP4, A0PJT0, A1A600, A2A6T1, A4IFK7, D3YV10, D3ZUQ0, G9G127, P97817, Q08379, Q0IHE5, Q0P4J3, Q17QG3, Q499E4, Q5EBL4, Q5RCR6, Q5RD32, Q5VU43, Q5XIA0, Q5XJA2, Q5ZJA3, Q61043, Q62839, Q6AYA0, Q6DFC2, Q6IP02, Q6NZT2, Q80YF0, Q86X02, Q86YS3, Q8BH60, Q8BQP8, Q8C2K1, Q8IYE1, Q8N4C6, Q91WG2, Q921M4, Q92574, Q969X0, Q96CN9

Diamond homologs: F1P065, F8VPU2, O08967, O94887, P08567, P0C1G6, P47197, Q3ZBA3, Q4KM33, Q559T8, Q55GV3, Q5F4B2, Q5RAB8, Q6A028, Q6Q308, Q7SYB5, Q8C2K1, Q91VS8, Q9ERS5, Q9H4E7, Q9JHK5, Q9NYT0, Q9UH65, Q9WV52, Q9Y4F1, Q5R6M6, Q6PA69, Q6VVX2, Q7Z5H3, Q8BL80, Q9EQG9, Q9GKI7, Q9W5D0, Q9Y5P4, Q15438, Q76MZ1, Q54KV6, Q6P3Q6, A4FU01, D2KC46

SIGNOR signaling

6 interactions.

A	Effect	B	Mechanism
DEF6	“up-regulates activity”	RAP1A	binding
DEF6	“up-regulates activity”	RAP1B	binding
LCK	“up-regulates activity”	DEF6	phosphorylation
DEF6	“up-regulates activity”	CDC42	“guanine nucleotide exchange factor”

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	8
Likely pathogenic	1
Uncertain significance	160
Likely benign	204
Benign	15

Top pathogenic / likely-pathogenic (9)

Variant ID	HGVS	Classification
1300255	NM_022047.4(DEF6):c.628T>G (p.Tyr210Asp)	Pathogenic
1300256	NM_022047.4(DEF6):c.940C>T (p.Gln314Ter)	Pathogenic
2785010	NM_022047.4(DEF6):c.1171G>T (p.Glu391Ter)	Pathogenic
2815762	NM_022047.4(DEF6):c.534del (p.Leu179fs)	Pathogenic
3646878	NM_022047.4(DEF6):c.220_227del (p.Lys74fs)	Pathogenic
3656992	NM_022047.4(DEF6):c.812del (p.Leu271fs)	Pathogenic
3684877	NM_022047.4(DEF6):c.432C>G (p.Tyr144Ter)	Pathogenic
4726478	NM_022047.4(DEF6):c.220A>T (p.Lys74Ter)	Pathogenic
3341305	NM_022047.4(DEF6):c.476_485del (p.Leu159fs)	Likely pathogenic

SpliceAI

1406 predictions. Top by Δscore:

Variant	Effect	Δscore
6:35297948:TCAAG:T	donor_loss	1.0000
6:35297949:CAAG:C	donor_loss	1.0000
6:35297950:AAG:A	donor_loss	1.0000
6:35297953:G:T	donor_loss	1.0000
6:35297954:T:A	donor_loss	1.0000
6:35309807:CAAG:C	donor_loss	1.0000
6:35309808:AAG:A	donor_loss	1.0000
6:35309809:AG:A	donor_loss	1.0000
6:35309810:GGT:G	donor_loss	1.0000
6:35309812:T:A	donor_loss	1.0000
6:35309821:GCTT:G	donor_gain	1.0000
6:35309829:G:GT	donor_gain	1.0000
6:35318171:A:AG	acceptor_gain	1.0000
6:35318172:G:GG	acceptor_gain	1.0000
6:35318172:GCC:G	acceptor_gain	1.0000
6:35318470:AGGT:A	donor_loss	1.0000
6:35318471:GG:G	donor_loss	1.0000
6:35318473:T:A	donor_loss	1.0000
6:35319522:A:AG	acceptor_gain	1.0000
6:35319523:G:A	acceptor_loss	1.0000
6:35319523:G:GG	acceptor_gain	1.0000
6:35319523:GGCCC:G	acceptor_gain	1.0000
6:35319976:G:GT	donor_gain	1.0000
6:35320009:G:GT	donor_gain	1.0000
6:35320017:GG:G	donor_loss	1.0000
6:35320019:T:A	donor_loss	1.0000
6:35320880:A:AG	acceptor_gain	1.0000
6:35320881:CA:C	acceptor_loss	1.0000
6:35320882:A:AG	acceptor_gain	1.0000
6:35320882:AG:A	acceptor_gain	1.0000

AlphaMissense

4136 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
6:35297899:T:C	F15L	1.000
6:35297901:T:A	F15L	1.000
6:35297901:T:G	F15L	1.000
6:35297909:T:C	L18P	1.000
6:35297940:G:C	K28N	1.000
6:35297940:G:T	K28N	1.000
6:35297948:T:A	L31H	1.000
6:35297948:T:C	L31P	1.000
6:35309674:T:C	L34P	1.000
6:35309736:T:C	F55L	1.000
6:35309737:T:C	F55S	1.000
6:35309738:C:A	F55L	1.000
6:35309738:C:G	F55L	1.000
6:35309775:T:C	Y68H	1.000
6:35309788:T:A	L72H	1.000
6:35309788:T:C	L72P	1.000
6:35310501:T:C	C94R	1.000
6:35310503:C:G	C94W	1.000
6:35310504:T:A	W95R	1.000
6:35310504:T:C	W95R	1.000
6:35310585:T:A	W122R	1.000
6:35310585:T:C	W122R	1.000
6:35317990:T:A	W303R	1.000
6:35317990:T:C	W303R	1.000
6:35297897:C:A	A14D	0.999
6:35297900:T:C	F15S	0.999
6:35297933:T:A	V26D	0.999
6:35297938:A:C	K28Q	0.999
6:35297938:A:G	K28E	0.999
6:35297939:A:T	K28M	0.999

dbSNP variants (sampled 300 via entrez): RS1000044704 (6:35313154 CT>C), RS1000052984 (6:35302283 C>T), RS1000077318 (6:35312734 A>T), RS1000323378 (6:35321302 C>G), RS1000359561 (6:35295892 G>A,T), RS1000550437 (6:35299395 C>T), RS1000584273 (6:35307046 A>G), RS1000780420 (6:35299977 A>G,T), RS1000813037 (6:35299775 G>T), RS1001148001 (6:35315376 G>A), RS1001247479 (6:35301166 T>A), RS1001291299 (6:35307272 G>A), RS1001350279 (6:35308244 G>A,T), RS1001393253 (6:35306263 C>T), RS1001698821 (6:35301471 A>G)

Disease associations

OMIM: gene MIM:610094 | disease phenotypes: MIM:619573

GenCC curated gene-disease

Disease	Classification	Inheritance
immunodeficiency 87 and autoimmunity	Strong	Autosomal recessive

ClinGen Gene-Disease Validity (1)

Expert-panel classifications — Definitive > Strong > Moderate > Limited > Disputed > Refuted.

Disease	Classification	Inheritance
immunodeficiency 87 and autoimmunity	Moderate	AR

Mondo (1): immunodeficiency 87 and autoimmunity (MONDO:0030457)

Orphanet (0):

HPO phenotypes

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

GWAS associations

19 associations (top):

Study	Trait	p-value
GCST000175_47	Height	4.000000e-08
GCST005752_125	Systemic lupus erythematosus	2.000000e-11
GCST005752_32	Systemic lupus erythematosus	5.000000e-07
GCST007400_21	Systemic lupus erythematosus	9.000000e-07
GCST007400_60	Systemic lupus erythematosus	2.000000e-08
GCST010241_362	Apolipoprotein A1 levels	6.000000e-11
GCST011491_4	Systemic lupus erythematosus	2.000000e-08
GCST011493_5	Systemic lupus erythematosus	3.000000e-12
GCST90002388_90	Lymphocyte count	2.000000e-23
GCST90002398_365	Neutrophil count	2.000000e-23
GCST90002407_256	White blood cell count	3.000000e-27
GCST90011898_142	Alanine aminotransferase levels	1.000000e-11
GCST90011899_75	Aspartate aminotransferase levels	5.000000e-17
GCST90013466_53	Height	2.000000e-15
GCST90013467_9	Height	3.000000e-07
GCST90013468_24	Height	7.000000e-11
GCST90020028_681	Hip circumference adjusted for BMI	3.000000e-10
GCST90020029_1547	Waist circumference adjusted for body mass index	6.000000e-09
GCST90020029_1551	Waist circumference adjusted for body mass index	6.000000e-09

EFO canonical traits (6, from GWAS)

EFO ID	Trait name
EFO:0004614	apolipoprotein A 1 measurement
EFO:0004587	lymphocyte count
EFO:0004833	neutrophil count
EFO:0004736	aspartate aminotransferase measurement
EFO:0008039	BMI-adjusted hip circumference
EFO:0007789	BMI-adjusted waist circumference

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	affects cotreatment, increases expression	3
Cadmium Chloride	increases abundance, decreases expression	3
trichostatin A	affects expression, increases expression	2
entinostat	increases expression, affects cotreatment	2
Air Pollutants	increases expression, affects expression, increases abundance	2
Aflatoxin B1	increases methylation, decreases methylation	2
aristolochic acid I	increases expression	1
FR900359	increases phosphorylation	1
triphenyl phosphate	affects expression	1
bisphenol A	affects cotreatment, decreases methylation	1
ethyl-p-hydroxybenzoate	increases expression	1
sodium arsenite	affects localization	1
S-(1,2-dichlorovinyl)cysteine	affects response to substance, increases expression, affects cotreatment, decreases expression	1
di-n-butylphosphoric acid	affects 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	1
nutlin 3	affects cotreatment, increases expression	1
dorsomorphin	affects cotreatment, increases expression	1
jinfukang	affects cotreatment, increases expression	1
(+)-JQ1 compound	decreases expression	1
Bortezomib	decreases expression	1
Temozolomide	affects response to substance	1
Fulvestrant	affects cotreatment, decreases methylation	1
Arsenic	affects methylation	1
Benzo(a)pyrene	affects methylation, increases methylation	1
Cadmium	decreases expression, increases abundance	1
Camptothecin	increases expression	1
Carmustine	affects response to substance	1
Cisplatin	affects cotreatment, increases expression	1
Dactinomycin	affects cotreatment, increases expression	1

Clinical trials (associated diseases)

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