SKAP2

Summary

SKAP2 (src kinase associated phosphoprotein 2, HGNC:15687) is a protein-coding gene on chromosome 7p15.2, encoding Src kinase-associated phosphoprotein 2 (O75563). May be involved in B-cell and macrophage adhesion processes.

The protein encoded by this gene shares homology with Src kinase-associated phosphoprotein 1, and is a substrate of Src family kinases. It is an adaptor protein that is thought to play an essential role in the Src signaling pathway, and in regulating proper activation of the immune system. This protein contains an amino terminal coiled-coil domain for self-dimerization, a plecskstrin homology (PH) domain required for interactions with lipids at the membrane, and a Src homology (SH3) domain at the carboxy terminus. Some reports indicate that this protein inhibits actin polymerization through interactions with actin assembly factors, and might negatively regulate the invasiveness of tumors by modulating actin assembly. Alternative splicing results in multiple transcript variants encoding different isoforms.

Source: NCBI Gene 8935 — RefSeq curated summary.

At a glance

• GWAS associations: 17
• Clinical variants (ClinVar): 58 total
• MANE Select transcript: NM_003930

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:15687
Approved symbol	SKAP2
Name	src kinase associated phosphoprotein 2
Location	7p15.2
Locus type	gene with protein product
Status	Approved
Aliases	RA70, SKAP-HOM, SKAP55R, SAPS
Ensembl gene	ENSG00000005020
Ensembl biotype	protein_coding
OMIM	605215
Entrez	8935

Gene structure

Transcript identifiers

Ensembl transcripts: 18 — 11 protein_coding, 6 protein_coding_CDS_not_defined, 1 retained_intron

ENST00000345317, ENST00000432747, ENST00000468712, ENST00000481204, ENST00000487720, ENST00000489977, ENST00000490456, ENST00000495802, ENST00000497511, ENST00000883205, ENST00000883206, ENST00000883207, ENST00000883208, ENST00000883209, ENST00000883210, ENST00000883211, ENST00000919136, ENST00000950651

RefSeq mRNA: 2 — MANE Select: NM_003930 NM_001303468, NM_003930

CCDS: CCDS5400

Canonical transcript exons

ENST00000345317 — 13 exons

Exon	Start	End
ENSE00001085057	26684736	26684848
ENSE00001085059	26690285	26690362
ENSE00001220341	26864363	26864590
ENSE00001365768	26670091	26670192
ENSE00001398234	26667068	26669656
ENSE00003464878	26738795	26738878
ENSE00003562129	26725428	26725565
ENSE00003563267	26739887	26739964
ENSE00003594057	26854137	26854162
ENSE00003612745	26854785	26854890
ENSE00003623811	26844030	26844137
ENSE00003631705	26725923	26725986
ENSE00003684606	26726882	26727006

Expression profiles

Bgee: expression breadth ubiquitous, 287 present calls, max score 99.01.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 31.8238 / max 1199.6946, expressed in 1723 samples.

FANTOM5 promoters (14 alternative TSS)

Promoter ID	TPM avg	Samples expressed
83241	22.0942	1669
83242	5.0181	1550
83240	1.8702	757
83239	0.7828	399
83243	0.6306	338
83238	0.2953	129
83246	0.2225	90
83245	0.2074	104
83236	0.2049	74
83237	0.2046	81

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
sperm	CL:0000019	99.01	gold quality
secondary oocyte	CL:0000655	97.97	gold quality
pericardium	UBERON:0002407	97.53	gold quality
monocyte	CL:0000576	97.06	gold quality
mononuclear cell	CL:0000842	96.86	gold quality
oocyte	CL:0000023	96.83	gold quality
male germ cell	CL:0000015	96.71	gold quality
leukocyte	CL:0000738	96.58	gold quality
trabecular bone tissue	UBERON:0002483	96.51	gold quality
visceral pleura	UBERON:0002401	96.20	gold quality
buccal mucosa cell	CL:0002336	95.93	gold quality
bone marrow cell	CL:0002092	95.77	gold quality
lower lobe of lung	UBERON:0008949	95.40	gold quality
pylorus	UBERON:0001166	95.39	gold quality
blood	UBERON:0000178	95.36	gold quality
renal medulla	UBERON:0000362	95.35	gold quality
parietal pleura	UBERON:0002400	94.67	gold quality
medulla oblongata	UBERON:0001896	94.63	gold quality
blood vessel layer	UBERON:0004797	94.62	gold quality
vena cava	UBERON:0004087	94.58	gold quality
pleura	UBERON:0000977	94.24	gold quality
nephron tubule	UBERON:0001231	94.24	gold quality
dorsal root ganglion	UBERON:0000044	94.18	gold quality
bone marrow	UBERON:0002371	94.16	gold quality
adrenal tissue	UBERON:0018303	94.07	gold quality
superficial temporal artery	UBERON:0001614	94.01	gold quality
mammary duct	UBERON:0001765	94.01	gold quality
superior vestibular nucleus	UBERON:0007227	93.63	gold quality
esophagus squamous epithelium	UBERON:0006920	93.52	gold quality
epithelium of mammary gland	UBERON:0003244	93.40	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-HCAD-35	yes	27.77
E-ANND-3	yes	14.47

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): SP1

miRNA regulators (miRDB)

123 targeting SKAP2, 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-3163	100.00	77.23	8605
HSA-MIR-5692A	100.00	74.40	6850
HSA-MIR-340-5P	100.00	72.50	4437
HSA-MIR-4747-5P	100.00	67.90	2681
HSA-MIR-5196-5P	100.00	67.98	2761
HSA-MIR-6873-3P	100.00	71.42	2626
HSA-MIR-126-5P	100.00	72.71	3180
HSA-MIR-548C-3P	99.99	74.01	7587
HSA-MIR-548AW	99.99	72.57	3559
HSA-MIR-5696	99.98	72.36	4487
HSA-MIR-4775	99.98	75.00	6394
HSA-MIR-607	99.97	73.62	5593
HSA-MIR-548AJ-3P	99.96	73.38	5345
HSA-MIR-548X-3P	99.96	73.38	5345
HSA-MIR-4725-3P	99.96	69.53	2520
HSA-MIR-6780B-5P	99.96	69.60	2562
HSA-MIR-548AT-5P	99.96	70.83	2666
HSA-MIR-23A-3P	99.95	74.24	3163
HSA-MIR-23B-3P	99.95	74.24	3163
HSA-MIR-23C	99.95	73.92	3192
HSA-MIR-548J-3P	99.94	72.61	4881
HSA-MIR-6845-3P	99.94	66.88	1439
HSA-MIR-548AE-3P	99.93	72.66	4867
HSA-MIR-548AQ-3P	99.93	72.66	4867
HSA-MIR-548AH-3P	99.93	72.54	4872
HSA-MIR-548AM-3P	99.93	72.54	4872
HSA-MIR-6835-3P	99.93	70.49	2904
HSA-MIR-450B-5P	99.92	71.48	3175
HSA-MIR-7-1-3P	99.91	71.53	4384
HSA-MIR-7-2-3P	99.91	71.40	4394

Literature-anchored findings (GeneRIF, showing 13)

• cloning & characterization of an adaptor protein that functions as a downstream target for RAFTK & plays a role in alpha-synuclein phosphorylation (PMID:12893833)
• studies provide insights into the molecular mechanism ofrelated adhesion focal tyrosine kinase (RAFTK) autophosphorylation and the specific role of Src in the regulation of RAFTK activation (PMID:15166227)
• Overexpression of SKAP2 is associated with the development of pancreatic ductal adenocarcinoma (PMID:17952125)
• analysis of substrate specificity of lymphoid-specific tyrosine phosphatase (Lyp) and identification of Src kinase-associated protein of 55 kDa homolog (SKAP-HOM) as a Lyp substrate (PMID:21719704)
• Skap2 is necessary for macrophage migration, chemotaxis, global actin reorganization and local actin reorganization upon integrin engagement. (PMID:22976304)
• results suggest that SKAP2 negatively regulates cell migration and tumor invasion in fibroblasts and glioblastoma cells by suppressing actin assembly induced by the WAVE2-cortactin complex (PMID:23161539)
• SKAP2 expression levels in NSCLC tissues could be a powerful biomarker of poor prognosis. Therefore, SKAP2 is a promising candidate molecular target for Non-small cell lung cancer treatment. (PMID:25862907)
• Macrophages assemble the appropriate motile machinery to infiltrate tumors and promote disease progression, and implicate SKAP2 as an attractive candidate for therapeutically targeting TAMs. (PMID:26577701)
• SKAP2, a Candidate Gene for Type 1 Diabetes, Regulates beta-Cell Apoptosis and Glycemic Control in Newly Diagnosed Patients. (PMID:33203694)
• Diabetes With Multiple Autoimmune and Inflammatory Conditions Linked to an Activating SKAP2 Mutation. (PMID:34172489)
• The Multiple Roles of the Cytosolic Adapter Proteins ADAP, SKAP1 and SKAP2 for TCR/CD3 -Mediated Signaling Events. (PMID:34295339)
• SKAP2 is downregulated in the villous tissues of patients with missed abortion and regulates growth and migration in trophoblasts through the WAVE2-ARP2/3 signaling pathway. (PMID:36126383)
• SKAP2 acts downstream of CD11b/CD18 and regulates neutrophil effector function. (PMID:38487529)

Cross-species orthologs

3 orthologs

Organism	Symbol	Gene ID
danio_rerio	skap2	ENSDARG00000000906
mus_musculus	Skap2	ENSMUSG00000059182
rattus_norvegicus	Skap2	ENSRNOG00000012228

Paralogs (1): SKAP1 (ENSG00000141293)

Protein

Protein identifiers

Src kinase-associated phosphoprotein 2 — O75563 (reviewed: O75563)

Alternative names: Pyk2/RAFTK-associated protein, Retinoic acid-induced protein 70, SKAP55 homolog, Src family-associated phosphoprotein 2, Src kinase-associated phosphoprotein 55-related protein, Src-associated adapter protein with PH and SH3 domains

All UniProt accessions (2): O75563, C9JQ17

UniProt curated annotations — full annotation on UniProt →

Function. May be involved in B-cell and macrophage adhesion processes. In B-cells, may act by coupling the B-cell receptor (BCR) to integrin activation. May play a role in src signaling pathway.

Subunit / interactions. Homodimer. Interacts with PTPNS1. Part of a complex consisting of SKAP2, FYB1 and PTPNS1. Part of a complex consisting of SKAP2, FYB1 and LILRB3. May interact with actin. Interacts with FYB1, which is required for SKAP2 protein stability. Interacts with LAT, GRB2, PTK2B and PRAM1. May interact with FYN, HCK and LYN. Interacts with FASLG.

Subcellular location. Cytoplasm.

Tissue specificity. Ubiquitously expressed. Present in platelets (at protein level).

Post-translational modifications. Phosphorylated in resting platelets. Phosphorylated by FYN on Tyr-261 upon T-cell activation. Dephosphorylated on Tyr-75 by PTPN22.

Domain organisation. The SH3 domain interacts with FYB1 and PTK2B.

Induction. By retinoic acid.

Similarity. Belongs to the SKAP family.

RefSeq proteins (2): NP_001290397, NP_003921* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR001452	SH3_domain	Domain
IPR001849	PH_domain	Domain
IPR011993	PH-like_dom_sf	Homologous_superfamily
IPR036028	SH3-like_dom_sf	Homologous_superfamily
IPR037781	SKAP_fam	Family

Pfam: PF00018, PF00169

UniProt features (23 total): modified residue 12, region of interest 3, domain 2, sequence variant 2, sequence conflict 2, chain 1, compositionally biased region 1

Structure

Experimental structures (PDB)

1 structures.

PDB	Method	Resolution (Å)
3OMH	X-RAY DIFFRACTION	2.9

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-O75563-F1	74.55	0.40

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 (12): 75, 87, 90, 151, 197, 223, 261, 283, 286, 5, 6, 9

Function

Pathways and Gene Ontology

Reactome pathways

2 pathways

ID	Pathway
R-HSA-391160	Signal regulatory protein family interactions
R-HSA-1500931	Cell-Cell communication

MSigDB gene sets: 268 (showing top): MCLACHLAN_DENTAL_CARIES_UP, GOBP_B_CELL_ACTIVATION, MODULE_45, GNF2_LYN, GOLDRATH_ANTIGEN_RESPONSE, DONATO_CELL_CYCLE_TRETINOIN, GNF2_MCL1, WANG_RESPONSE_TO_BEXAROTENE_DN, DACOSTA_UV_RESPONSE_VIA_ERCC3_TTD_DN, SCHAEFFER_PROSTATE_DEVELOPMENT_48HR_UP, GNF2_MYD88, BYSTRYKH_HEMATOPOIESIS_STEM_CELL_AND_BRAIN_QTL_TRANS, CHARAFE_BREAST_CANCER_LUMINAL_VS_BASAL_DN, RYTTCCTG_ETS2_B, P300_01

GO Biological Process (3): signal transduction (GO:0007165), negative regulation of cell population proliferation (GO:0008285), B cell activation (GO:0042113)

GO Molecular Function (1): protein binding (GO:0005515)

GO Cellular Component (4): nucleoplasm (GO:0005654), cytoplasm (GO:0005737), cytosol (GO:0005829), plasma membrane (GO:0005886)

Reactome top-level categories

Rollup of top-1 pathways:

Category	Pathways
Cell-Cell communication	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	3
cell communication	1
cellular process	1
signaling	1
regulation of cellular process	1
cellular response to stimulus	1
cell population proliferation	1
regulation of cell population proliferation	1
negative regulation of cellular process	1
lymphocyte activation	1
binding	1
nuclear lumen	1
intracellular anatomical structure	1
cytoplasm	1
membrane	1
cell periphery	1

Protein interactions and networks

STRING

908 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
SKAP2	FYB1	O15117	935
SKAP2	LCP2	Q13094	844
SKAP2	PRAM1	Q96QH2	766
SKAP2	LCK	P06239	687
SKAP2	FYN	P06241	674
SKAP2	VAV1	P15498	545
SKAP2	LYN	P07948	538
SKAP2	PLCG2	P16885	534
SKAP2	DAPP1	Q9UN19	523
SKAP2	ZAP70	P43403	518
SKAP2	BCAR1	P56945	518
SKAP2	PLEK	P08567	517
SKAP2	SIRPA	P78324	515
SKAP2	NCK2	O43639	508
SKAP2	PLEK2	Q9NYT0	504
SKAP2	KNSTRN	Q9Y448	504

IntAct

44 interactions, top by confidence:

A	B	Type	Score
SNRPB	PRMT5	psi-mi:“MI:0914”(association)	0.670
GBA2	ILVBL	psi-mi:“MI:0914”(association)	0.640
PTPN22	SKAP2	psi-mi:“MI:0407”(direct interaction)	0.610
PTPN22	SKAP2	psi-mi:“MI:0203”(dephosphorylation reaction)	0.610
SKAP2	PTPN22	psi-mi:“MI:0915”(physical association)	0.610
FRMD1	A2ML1	psi-mi:“MI:0914”(association)	0.530
SNRPN	PRMT5	psi-mi:“MI:0914”(association)	0.530
ABHD5	ZPR1	psi-mi:“MI:0914”(association)	0.530
SKAP2	EGFR	psi-mi:“MI:0915”(physical association)	0.510
SKAP2	FASLG	psi-mi:“MI:0407”(direct interaction)	0.440
FYB2	SKAP2	psi-mi:“MI:0915”(physical association)	0.400
SKAP1	MYO9A	psi-mi:“MI:0914”(association)	0.350
RGS3	ZNF646	psi-mi:“MI:0914”(association)	0.350
ABHD5	KDM4A	psi-mi:“MI:0914”(association)	0.350
GRB2	CNOT1	psi-mi:“MI:0914”(association)	0.350
FYN	AIP	psi-mi:“MI:0914”(association)	0.350
CAMK2D	OGT	psi-mi:“MI:0914”(association)	0.350
ZNF174	FAM171A2	psi-mi:“MI:0914”(association)	0.350
ATP13A3	GPR89A	psi-mi:“MI:0914”(association)	0.350
PRPS2	SMCHD1	psi-mi:“MI:0914”(association)	0.350
TMPRSS13	TOR1A	psi-mi:“MI:0914”(association)	0.350
SNTB2	CHEK1	psi-mi:“MI:0914”(association)	0.350
RAP1GAP	VPS26A	psi-mi:“MI:0914”(association)	0.350
FYB1	SKAP2	psi-mi:“MI:0914”(association)	0.350
FBXO7	SKAP2	psi-mi:“MI:0914”(association)	0.350

BioGRID (77): SKAP2 (Affinity Capture-MS), SKAP2 (Affinity Capture-MS), SKAP2 (Affinity Capture-MS), SKAP2 (Affinity Capture-MS), SKAP2 (Affinity Capture-MS), SKAP2 (Affinity Capture-MS), SKAP2 (PCA), SKAP2 (PCA), SKAP2 (PCA), SKAP2 (PCA), SKAP2 (PCA), SKAP2 (PCA), SKAP2 (PCA), SKAP2 (PCA), SKAP2 (PCA)

ESM2 similar proteins: A1ZAY1, A2RT67, A6NI72, A7MBL8, A8MVU1, F1LXF1, F1M707, O08874, O15034, O75563, O77774, O88382, P11274, P14598, P15056, P15498, P27870, P28028, P54100, Q04982, Q08DN7, Q09014, Q16513, Q32LP7, Q3UND0, Q3ZBA3, Q5BKC9, Q5RDS2, Q5RDX5, Q5RED8, Q5VUG0, Q66H62, Q69ZK0, Q6PAJ1, Q70Z35, Q80TQ2, Q80U40, Q86UL8, Q8BWW9, Q8CHT1

Diamond homologs: A0A0K3AV08, A0JNJ1, A1A4S6, A1CEK6, A1DFN5, A2QW93, A4FU49, A4RF61, A7A261, B1V8A0, E2RP94, E9Q634, F1LRS8, M0R4F8, O00160, O35179, O35413, O43586, O55043, O75563, O75791, O89100, O94868, O94875, P10569, P19706, P43603, P62484, P70248, P80192, P97306, P97814, Q08DN7, Q08DP6, Q0CJU8, Q0U6X7, Q12965, Q14155, Q15052, Q16584

SIGNOR signaling

0 interactions.

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 48 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.

GO biological processes:

GO term	Partners	Fold	FDR
T cell receptor signaling pathway	5	17.2×	5e-03

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	33
Likely benign	2
Benign	3

Top pathogenic / likely-pathogenic (0)

SpliceAI

3500 predictions. Top by Δscore:

Variant	Effect	Δscore
7:26690279:CATTA:C	donor_loss	1.0000
7:26690280:ATTAC:A	donor_loss	1.0000
7:26690281:TTAC:T	donor_loss	1.0000
7:26690282:TA:T	donor_loss	1.0000
7:26690284:C:CT	donor_loss	1.0000
7:26690360:CTT:C	acceptor_gain	1.0000
7:26690363:C:CC	acceptor_gain	1.0000
7:26723058:A:AC	donor_gain	1.0000
7:26723059:C:CC	donor_gain	1.0000
7:26723059:CTG:C	donor_gain	1.0000
7:26723059:CTGCT:C	donor_gain	1.0000
7:26725424:ATACC:A	donor_loss	1.0000
7:26725425:TACCT:T	donor_loss	1.0000
7:26725426:A:AT	donor_loss	1.0000
7:26725427:CCT:C	donor_loss	1.0000
7:26725563:TAT:T	acceptor_gain	1.0000
7:26725563:TATCT:T	acceptor_loss	1.0000
7:26725564:AT:A	acceptor_gain	1.0000
7:26725565:TCTAT:T	acceptor_loss	1.0000
7:26725566:C:CA	acceptor_loss	1.0000
7:26725566:C:CC	acceptor_gain	1.0000
7:26725568:A:C	acceptor_gain	1.0000
7:26725987:C:CC	acceptor_gain	1.0000
7:26726891:A:AC	donor_gain	1.0000
7:26726892:C:CC	donor_gain	1.0000
7:26738878:TC:T	acceptor_loss	1.0000
7:26738879:C:CC	acceptor_gain	1.0000
7:26738879:C:CG	acceptor_loss	1.0000
7:26738880:T:A	acceptor_loss	1.0000
7:26739975:T:C	acceptor_gain	1.0000

AlphaMissense

2408 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
7:26738855:A:G	W137R	1.000
7:26738855:A:T	W137R	1.000
7:26670164:C:T	G339E	0.999
7:26670171:A:G	W337R	0.999
7:26670171:A:T	W337R	0.999
7:26670174:A:G	W336R	0.999
7:26670174:A:T	W336R	0.999
7:26684776:A:G	L316S	0.999
7:26725953:A:G	W210R	0.999
7:26725953:A:T	W210R	0.999
7:26725985:A:G	F199S	0.999
7:26726916:A:G	F187S	0.999
7:26738840:A:G	C142R	0.999
7:26738845:C:G	R140P	0.999
7:26738853:C:A	W137C	0.999
7:26738853:C:G	W137C	0.999
7:26739897:T:A	K125N	0.999
7:26739897:T:G	K125N	0.999
7:26739899:T:C	K125E	0.999
7:26670137:A:T	V348E	0.998
7:26670143:C:T	G346D	0.998
7:26670165:C:G	G339R	0.998
7:26670165:C:T	G339R	0.998
7:26670172:C:A	W336C	0.998
7:26670172:C:G	W336C	0.998
7:26684770:A:G	F318S	0.998
7:26726942:T:A	R178S	0.998
7:26726942:T:G	R178S	0.998
7:26738810:A:C	Y152D	0.998
7:26738838:A:C	C142W	0.998

dbSNP variants (sampled 300 via entrez): RS1000002105 (7:26671820 T>A,C), RS1000002713 (7:26761003 T>C), RS1000054715 (7:26752017 C>A), RS1000060462 (7:26848186 C>G,T), RS1000068783 (7:26707048 A>G), RS1000076035 (7:26832703 A>C,G), RS1000077112 (7:26848848 A>G), RS1000134692 (7:26659714 ATG>A,ATGTG), RS1000144543 (7:26807816 C>T), RS1000162866 (7:26691802 C>T), RS1000174282 (7:26826356 A>G), RS1000224140 (7:26786065 A>G), RS1000256799 (7:26785642 C>T), RS1000258760 (7:26858067 G>A), RS1000259704 (7:26678320 A>G)

Disease associations

OMIM: gene MIM:605215 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

17 associations (top):

Study	Trait	p-value
GCST004343_3	Chronic venous disease	3.000000e-07
GCST004746_15	Small cell lung carcinoma	7.000000e-06
GCST005537_208	Chronic inflammatory diseases (ankylosing spondylitis, Crohn’s disease, psoriasis, primary sclerosing cholangitis, ulcerative colitis) (pleiotropy)	3.000000e-18
GCST005752_9	Systemic lupus erythematosus	2.000000e-07
GCST006218_94	Erosive tooth wear (severe vs non-severe)	5.000000e-06
GCST006226_10	Erosive tooth wear (severe vs none or mild)	6.000000e-08
GCST006226_19	Erosive tooth wear (severe vs none or mild)	5.000000e-06
GCST006976_51	Macular thickness	2.000000e-10
GCST007429_43	Lung function (FVC)	2.000000e-08
GCST007430_39	Peak expiratory flow	1.000000e-07
GCST007432_77	FEV1	8.000000e-13
GCST010716_1	Survival in colon cancer	2.000000e-08
GCST010717_1	Disease free survival in colon cancer	4.000000e-07
GCST012229_59	Hip index	4.000000e-09
GCST012490_404	Femur bone mineral density x serum urate levels interaction	2.000000e-08
GCST90002388_21	Lymphocyte count	1.000000e-10
GCST90002389_147	Lymphocyte percentage of white cells	5.000000e-12

EFO canonical traits (9, from GWAS)

EFO ID	Trait name
EFO:0004312	vital capacity
EFO:0009718	peak expiratory flow
EFO:0004314	forced expiratory volume
EFO:0000638	overall survival
EFO:0000409	disease free survival
EFO:0008039	BMI-adjusted hip circumference
EFO:0004531	urate measurement
EFO:0004587	lymphocyte count
EFO:0007993	lymphocyte percentage of leukocytes

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	increases expression, affects expression, affects cotreatment	8
trichostatin A	affects cotreatment, increases expression	3
Benzo(a)pyrene	affects methylation, decreases expression	3
entinostat	increases expression, affects cotreatment	2
Panobinostat	increases expression, affects cotreatment	2
Air Pollutants	decreases expression, affects methylation, increases abundance	2
Phenylmercuric Acetate	affects cotreatment, increases expression	2
Tetrachlorodibenzodioxin	increases expression	2
Tretinoin	increases expression	2
Cyclosporine	decreases expression, increases expression	2
bisphenol A	decreases methylation	1
tris(2-butoxyethyl) phosphate	affects expression	1
sodium arsenite	increases expression	1
aflatoxin B2	increases methylation	1
nickel sulfate	increases expression	1
perfluorooctane sulfonic acid	increases expression	1
monomethylarsonous acid	decreases expression	1
K 7174	increases expression	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, increases expression	1
belinostat	increases expression	1
2-methyl-2H-pyrazole-3-carboxylic acid (2-methyl-4-o-tolylazophenyl)amide	decreases expression	1
dorsomorphin	affects cotreatment, increases expression	1
2-(1H-indazol-4-yl)-6-(4-methanesulfonylpiperazin-1-ylmethyl)-4-morpholin-4-ylthieno(3,2-d)pyrimidine	increases expression, increases response to substance	1
tianma gouteng yin	increases expression	1
Resveratrol	affects cotreatment, increases expression	1
Sunitinib	increases expression	1
Vorinostat	increases expression	1
Norethindrone Acetate	affects cotreatment, increases expression	1
Ethanol	decreases expression	1
Vehicle Emissions	affects methylation, increases abundance	1

Clinical trials (associated diseases)

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