AFAP1L2

Summary

AFAP1L2 (actin filament associated protein 1 like 2, HGNC:25901) is a protein-coding gene on chromosome 10q25.3, encoding Actin filament-associated protein 1-like 2 (Q8N4X5). May play a role in a signaling cascade by enhancing the kinase activity of SRC.

Enables SH2 domain binding activity; SH3 domain binding activity; and protein tyrosine kinase activator activity. Involved in several processes, including positive regulation of epidermal growth factor receptor signaling pathway; regulation of gene expression; and regulation of mitotic cell cycle. Located in cytosol and plasma membrane.

Source: NCBI Gene 84632 — RefSeq curated summary.

At a glance

• GWAS associations: 6
• Clinical variants (ClinVar): 201 total — 1 likely-pathogenic
• Phenotypes (HPO): 1
• MANE Select transcript: NM_001001936

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:25901
Approved symbol	AFAP1L2
Name	actin filament associated protein 1 like 2
Location	10q25.3
Locus type	gene with protein product
Status	Approved
Aliases	FLJ14564, Em:AC005383.4, XB130
Ensembl gene	ENSG00000169129
Ensembl biotype	protein_coding
OMIM	612420
Entrez	84632

Gene structure

Transcript identifiers

Ensembl transcripts: 19 — 16 protein_coding, 3 protein_coding_CDS_not_defined

ENST00000304129, ENST00000369271, ENST00000419268, ENST00000483496, ENST00000486300, ENST00000491814, ENST00000696688, ENST00000853960, ENST00000853961, ENST00000853962, ENST00000853963, ENST00000853964, ENST00000853965, ENST00000853966, ENST00000853967, ENST00000924811, ENST00000941479, ENST00000941480, ENST00000941481

RefSeq mRNA: 20 — MANE Select: NM_001001936 NM_001001936, NM_001287824, NM_001351064, NM_001351065, NM_001351066, NM_001351067, NM_001351068, NM_001351069, NM_001351070, NM_001351071, NM_001351072, NM_001351073, NM_001351074, NM_001351075, NM_001351076, NM_001351077, NM_001351078, NM_001351079, NM_001351080, NM_032550

CCDS: CCDS31286, CCDS31287, CCDS91356

Canonical transcript exons

ENST00000304129 — 19 exons

Exon	Start	End
ENSE00000986779	114313871	114314050
ENSE00001242244	114315560	114315765
ENSE00001242251	114323171	114323261
ENSE00001863375	114404440	114404502
ENSE00001870585	114294824	114296068
ENSE00002484174	114304719	114304930
ENSE00002500149	114307805	114307909
ENSE00002530382	114308433	114308517
ENSE00003449063	114296978	114297100
ENSE00003485655	114331803	114331897
ENSE00003488735	114300194	114300362
ENSE00003514669	114302339	114302484
ENSE00003594120	114333221	114333295
ENSE00003594307	114301354	114301465
ENSE00003644031	114299260	114299415
ENSE00003644180	114297220	114297413
ENSE00003659829	114340603	114340731
ENSE00003661630	114300445	114300690
ENSE00003789845	114310354	114310443

Expression profiles

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

FANTOM5 (CAGE): breadth broad, TPM avg 8.3926 / max 181.6637, expressed in 892 samples.

FANTOM5 promoters (8 alternative TSS)

Promoter ID	TPM avg	Samples expressed
111475	5.2695	691
111472	1.1968	316
111476	0.7374	408
111479	0.4999	272
111478	0.4654	199
111477	0.0934	46
111480	0.0684	38
111481	0.0617	30

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
sural nerve	UBERON:0015488	98.04	gold quality
left lobe of thyroid gland	UBERON:0001120	97.09	gold quality
right lobe of thyroid gland	UBERON:0001119	96.90	gold quality
thyroid gland	UBERON:0002046	96.82	gold quality
tibial nerve	UBERON:0001323	96.80	gold quality
spleen	UBERON:0002106	94.57	gold quality
buccal mucosa cell	CL:0002336	92.72	gold quality
oviduct epithelium	UBERON:0004804	89.97	gold quality
body of uterus	UBERON:0009853	89.28	gold quality
right uterine tube	UBERON:0001302	89.00	gold quality
cerebellar hemisphere	UBERON:0002245	88.91	gold quality
cerebellar cortex	UBERON:0002129	88.72	gold quality
right hemisphere of cerebellum	UBERON:0014890	88.65	gold quality
metanephros cortex	UBERON:0010533	88.28	gold quality
endocervix	UBERON:0000458	87.95	gold quality
ectocervix	UBERON:0012249	87.67	gold quality
fallopian tube	UBERON:0003889	87.57	gold quality
cerebellum	UBERON:0002037	87.18	gold quality
vagina	UBERON:0000996	86.99	gold quality
smooth muscle tissue	UBERON:0001135	86.52	gold quality
anterior cingulate cortex	UBERON:0009835	86.07	gold quality
left uterine tube	UBERON:0001303	86.01	gold quality
right frontal lobe	UBERON:0002810	85.28	gold quality
amygdala	UBERON:0001876	84.82	gold quality
uterine cervix	UBERON:0000002	84.80	gold quality
lower esophagus mucosa	UBERON:0035834	84.75	gold quality
right ovary	UBERON:0002118	84.59	gold quality
prefrontal cortex	UBERON:0000451	84.57	gold quality
body of pancreas	UBERON:0001150	84.24	gold quality
left ovary	UBERON:0002119	83.62	gold quality

Single-cell (SCXA)

Detected in 4 experiment(s), a significant marker in 3.

Experiment	Marker?	Max mean expression
E-GEOD-110499	yes	578.84
E-MTAB-6678	yes	22.07
E-ANND-3	yes	4.58
E-MTAB-8410	no	3.21

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

82 targeting AFAP1L2, 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-30A-5P	100.00	76.31	3233
HSA-MIR-30B-5P	100.00	76.29	3248
HSA-MIR-30C-5P	100.00	76.29	3248
HSA-MIR-30D-5P	100.00	76.32	3233
HSA-MIR-30E-5P	100.00	76.32	3242
HSA-MIR-5011-5P	100.00	83.46	5820
HSA-MIR-6758-5P	100.00	66.21	1470
HSA-MIR-6856-5P	100.00	65.47	1298
HSA-MIR-4533	100.00	69.48	2758
HSA-MIR-3613-3P	100.00	76.36	7965
HSA-MIR-548C-3P	99.99	74.01	7587
HSA-MIR-4282	99.99	75.36	6408
HSA-MIR-4650-5P	99.98	64.69	999
HSA-MIR-10523-5P	99.91	69.22	2038
HSA-MIR-219A-5P	99.91	73.36	735
HSA-MIR-3686	99.90	70.53	2432
HSA-MIR-9902	99.89	69.15	2250
HSA-MIR-4782-3P	99.88	73.31	735
HSA-MIR-6766-3P	99.88	73.38	732
HSA-MIR-4503	99.85	71.45	1869
HSA-MIR-5003-3P	99.85	69.29	2517
HSA-MIR-369-3P	99.85	70.52	2264
HSA-MIR-1323	99.83	69.89	2471
HSA-MIR-181B-2-3P	99.81	70.06	1646
HSA-MIR-181B-3P	99.81	70.06	1646
HSA-MIR-4659A-3P	99.80	72.62	4248
HSA-MIR-4659B-3P	99.80	72.62	4248
HSA-MIR-370-5P	99.78	66.81	706
HSA-MIR-6885-3P	99.75	70.36	3187
HSA-MIR-3617-5P	99.75	69.41	1968

Literature-anchored findings (GeneRIF, showing 21)

• These observations suggest that the expression of XB130 in these cancer cells may affect cell proliferation and survival by controlling the expression of multiple genes, especially transcription regulators. (PMID:21224076)
• Protein expression of XB130 is not associated with the postoperative prognosis of patients with hepatocellular carcinoma. (PMID:22190283)
• High nuclear expression of XB130 is associated with esophageal squamous cell carcinoma. (PMID:22805860)
• reduced XB130 protein expression is a prognostic biomarker for shorter survival and a higher recurrence rate in patients with gastric cancer (PMID:22927913)
• XB130 is a substrate of multiple protein tyrosine kinases, and it can regulate cell proliferation and survival through modulating selected down-stream signals of PI3K/Akt pathway (PMID:22928011)
• XB130 could promote growth of cancer cells by regulating expression of tumor suppressive miRNAs and their targeted genes. (PMID:23527086)
• XB130 enhances cell motility and invasiveness by modulating the epithelial-mesenchymal transition-like process. (PMID:24387290)
• High XB130 expression is associated with pancreatic ductal adenocarcinoma. (PMID:24581082)
• Results showed significant interaction between variants at TERF1 and AFAP1L2 loci. Given the key role of TERF1 in telomere biology and its physical interaction with AFAP1L2, these results support a role for telomere dysfunction in melanoma development. (PMID:25892537)
• XB130 is a mediator for nicotine-derived nitrosamine ketone-induced cell migration through its translocation to cell motility related microfilamentous cellular structures. (PMID:25980441)
• This is the first study to reveal that XB130 overexpression may be related to the prediction of metastasis potency and poor prognosis for osteosarcoma patients (PMID:26045762)
• XB130 could be useful as a prognostic marker of recurrence-free and overall survival in invasive ductal breast cancer, as well as for the response to chemotherapy. (PMID:26191231)
• Results suggest that Tks5, similar to XB130, plays a role in cell proliferation and cell survival and that the interaction between XB130 and Tks5 appears to be critical for regulation of Src-mediated cellular homeostasis. (PMID:26446840)
• these observations suggest that XB130 may be a novel molecular marker and potent therapeutic target for prostate (PMID:27509056)
• Our results suggest that dissociation between XB130 and Tks5 may facilitate lateral cell migration via XB130/Rac1, and vertical cell migration via Tks5/Cdc42. These molecular mechanisms will help our understanding of airway epithelial repair and regeneration. (PMID:27835612)
• present study demonstrated that the expression of XB130 is elevated in CRC cells. Loss of XB130 was associated with decreased invasion and migration of CRC cells, possibly as a result of EMT inhibition. (PMID:28849225)
• This study indicates that XB130 plays an important role in maintaining the epithelial-mesenchymal transition (EMT) and stem cell-like characteristics of breast cancer cells, supporting the significance of XB130 as a new potential therapeutic target for early diagnosis and prognosis of breast cancer. (PMID:31219645)
• High XB130 expression is associated with proliferation and metastasis of non-small-cell lung cancer. (PMID:32159887)
• Adaptor protein XB130 regulates the aggressiveness of cholangiocarcinoma. (PMID:34780466)
• Molecular mechanism of XB130 adaptor protein mediates trastuzumab resistance in gastric cancer. (PMID:36284062)
• High XB130 expression in renal cell carcinoma is strongly associated with poor prognosis. (PMID:37729738)

Cross-species orthologs

3 orthologs

Organism	Symbol	Gene ID
danio_rerio	afap1l2	ENSDARG00000074806
mus_musculus	Afap1l2	ENSMUSG00000025083
rattus_norvegicus	Afap1l2	ENSRNOG00000017164

Paralogs (2): AFAP1L1 (ENSG00000157510), AFAP1 (ENSG00000196526)

Protein

Protein identifiers

Actin filament-associated protein 1-like 2 — Q8N4X5 (reviewed: Q8N4X5)

All UniProt accessions (3): Q8N4X5, A0A8Q3SIY9, F6QUH3

UniProt curated annotations — full annotation on UniProt →

Function. May play a role in a signaling cascade by enhancing the kinase activity of SRC. Contributes to SRC-regulated transcription activation.

Subunit / interactions. Interacts with SRC. Interacts with LCK when tyrosine phosphorylated.

Subcellular location. Cytoplasm.

Tissue specificity. Detected in spleen and thyroid, and at lower levels in kidney, brain, lung and pancreas.

Post-translational modifications. Tyrosine phosphorylated (by SRC).

Isoforms (4)

UniProt ID	Names	Canonical?
Q8N4X5-1	1	yes
Q8N4X5-2	2
Q8N4X5-3	3
Q8N4X5-4	4

RefSeq proteins (20): NP_001001936, NP_001274753, NP_001337993, NP_001337994, NP_001337995, NP_001337996, NP_001337997, NP_001337998, NP_001337999, NP_001338000, NP_001338001, NP_001338002, NP_001338003, NP_001338004, NP_001338005, NP_001338006, NP_001338007, NP_001338008, NP_001338009, NP_115939 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR001849	PH_domain	Domain
IPR011993	PH-like_dom_sf	Homologous_superfamily
IPR030113	AFAP	Family

Pfam: PF00169

UniProt features (39 total): sequence conflict 8, strand 7, modified residue 4, splice variant 4, sequence variant 4, region of interest 3, domain 2, compositionally biased region 2, chain 1, mutagenesis site 1, turn 1, helix 1, coiled-coil region 1

Structure

Experimental structures (PDB)

1 structures.

PDB	Method	Resolution (Å)
2COF	SOLUTION NMR

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q8N4X5-F1	64.56	0.33

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 (4): 408, 413, 484, 56

Mutagenesis-validated functional residues (1):

Position	Phenotype
4	reduced interaction with src.

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 112 (showing top): GOBP_REGULATION_OF_ERBB_SIGNALING_PATHWAY, GOBP_INFLAMMATORY_RESPONSE, GOBP_POSITIVE_REGULATION_OF_INTERLEUKIN_8_PRODUCTION, TATTATA_MIR374, GOBP_POSITIVE_REGULATION_OF_CYTOKINE_PRODUCTION, GOMF_KINASE_ACTIVATOR_ACTIVITY, CATTTCA_MIR203, GOMF_SH2_DOMAIN_BINDING, GOBP_ERBB_SIGNALING_PATHWAY, GOBP_CYTOKINE_PRODUCTION, GOBP_REGULATION_OF_CELL_CYCLE, GOBP_MITOTIC_CELL_CYCLE, TGTTTAC_MIR30A5P_MIR30C_MIR30D_MIR30B_MIR30E5P, CUI_TCF21_TARGETS_2_DN, GRYDER_PAX3FOXO1_ENHANCERS_IN_TADS

GO Biological Process (6): inflammatory response (GO:0006954), regulation of mitotic cell cycle (GO:0007346), regulation of interleukin-6 production (GO:0032675), positive regulation of interleukin-8 production (GO:0032757), positive regulation of epidermal growth factor receptor signaling pathway (GO:0045742), positive regulation of DNA-templated transcription (GO:0045893)

GO Molecular Function (3): SH3 domain binding (GO:0017124), protein tyrosine kinase activator activity (GO:0030296), SH2 domain binding (GO:0042169)

GO Cellular Component (3): cytoplasm (GO:0005737), cytosol (GO:0005829), plasma membrane (GO:0005886)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
protein domain specific binding	2
cellular anatomical structure	2
defense response	1
mitotic cell cycle	1
regulation of cell cycle	1
regulation of cytokine production	1
interleukin-6 production	1
positive regulation of cytokine production	1
interleukin-8 production	1
regulation of interleukin-8 production	1
epidermal growth factor receptor signaling pathway	1
regulation of epidermal growth factor receptor signaling pathway	1
positive regulation of ERBB signaling pathway	1
DNA-templated transcription	1
regulation of DNA-templated transcription	1
positive regulation of RNA biosynthetic process	1
protein tyrosine kinase activity	1
protein kinase activator activity	1
intracellular anatomical structure	1
cytoplasm	1
membrane	1
cell periphery	1

Protein interactions and networks

STRING

566 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
AFAP1L2	CSK	P41240	550
AFAP1L2	PIK3R1	P27986	550
AFAP1L2	PLEK	P08567	538
AFAP1L2	SRC	P12931	519
AFAP1L2	LCK	P06239	498
AFAP1L2	TERF1	P54274	476
AFAP1L2	GSK3B	P49841	476
AFAP1L2	CXADR	P78310	444
AFAP1L2	CCDC186	Q7Z3E2	423
AFAP1L2	NHLRC2	Q8NBF2	422
AFAP1L2	CLMN	Q96JQ2	414
AFAP1L2	EGF	P01133	404
AFAP1L2	TACC2	O95359	402
AFAP1L2	LPGAT1	Q92604	396
AFAP1L2	PI16	Q6UXB8	389

IntAct

11 interactions, top by confidence:

A	B	Type	Score
PIK3CA	PIK3R2	psi-mi:“MI:0914”(association)	0.900
AFAP1L2	TERF1	psi-mi:“MI:0915”(physical association)	0.370
AFAP1L2	TERF2	psi-mi:“MI:0915”(physical association)	0.370
AFAP1L2	TINF2	psi-mi:“MI:0915”(physical association)	0.370
AFAP1L2	ACD	psi-mi:“MI:0915”(physical association)	0.370
POT1	AFAP1L2	psi-mi:“MI:0915”(physical association)	0.370
PA	TOP1	psi-mi:“MI:0914”(association)	0.350
PB2		psi-mi:“MI:0914”(association)	0.350

BioGRID (47): AFAP1L2 (Affinity Capture-MS), SH3PXD2A (Affinity Capture-Western), SH3PXD2A (Two-hybrid), SH3PXD2A (Reconstituted Complex), SRC (Affinity Capture-Western), AFAP1L2 (Affinity Capture-Western), AFAP1L2 (Affinity Capture-Western), AFAP1L2 (Proximity Label-MS), AFAP1L2 (Negative Genetic), AFAP1L2 (Affinity Capture-RNA), AFAP1L2 (Co-fractionation), AFAP1L2 (Co-fractionation), AFAP1L2 (Proximity Label-MS), AFAP1L2 (Affinity Capture-MS), AFAP1L2 (Proximity Label-MS)

ESM2 similar proteins: A0JM13, A1A4L4, A2RRS8, B0DOB4, D4A039, O00750, O70167, O70173, Q08EC4, Q1LXR6, Q3ULW6, Q3UQI9, Q3V0L5, Q3ZAV8, Q4AC94, Q4G0A6, Q52KB6, Q5DTU0, Q5F479, Q5JV73, Q5SUS0, Q5T0N1, Q5XIR4, Q5XIZ9, Q6IFT4, Q6IRN0, Q6IRU7, Q6P1H6, Q6P4K6, Q6PF55, Q6REY9, Q6ZPF3, Q7TP65, Q7Z2Z1, Q80TQ5, Q80VH0, Q8C008, Q8IWE5, Q8N4X5, Q8N5R6

Diamond homologs: A6QQV9, D4AB98, F7EL49, Q17R10, Q4V8Y7, Q5DTU0, Q6PF55, Q80YS6, Q8BZI0, Q8N4X5, Q8N556, Q8TED9, Q8VH46, Q90738

SIGNOR signaling

2 interactions.

A	Effect	B	Mechanism
RET	“up-regulates activity”	AFAP1L2	phosphorylation
AFAP1L2	“up-regulates activity”	PIK3CA	binding

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	1
Uncertain significance	126
Likely benign	26
Benign	10

Top pathogenic / likely-pathogenic (1)

Variant ID	HGVS	Classification
684663	NM_001272046.2(VWA2):c.1336C>T (p.Arg446Cys)	Likely pathogenic

SpliceAI

3877 predictions. Top by Δscore:

Variant	Effect	Δscore
10:114297101:C:CC	acceptor_gain	1.0000
10:114297107:T:TC	acceptor_gain	1.0000
10:114297109:A:C	acceptor_gain	1.0000
10:114297218:A:AC	donor_gain	1.0000
10:114297219:C:CC	donor_gain	1.0000
10:114297219:CG:C	donor_gain	1.0000
10:114297219:CGCGG:C	donor_gain	1.0000
10:114297231:CATT:C	donor_gain	1.0000
10:114297409:CTTGT:C	acceptor_gain	1.0000
10:114297410:TTGT:T	acceptor_gain	1.0000
10:114297411:TGT:T	acceptor_gain	1.0000
10:114297411:TGTC:T	acceptor_gain	1.0000
10:114297412:GT:G	acceptor_gain	1.0000
10:114297414:C:CC	acceptor_gain	1.0000
10:114299254:CCTTA:C	donor_loss	1.0000
10:114299255:CTTA:C	donor_loss	1.0000
10:114299257:TA:T	donor_loss	1.0000
10:114299258:A:AC	donor_gain	1.0000
10:114299258:A:AT	donor_loss	1.0000
10:114299258:AC:A	donor_gain	1.0000
10:114299259:C:CT	donor_gain	1.0000
10:114299259:CC:C	donor_gain	1.0000
10:114299259:CCTG:C	donor_gain	1.0000
10:114299259:CCTGT:C	donor_gain	1.0000
10:114299411:GATCT:G	acceptor_gain	1.0000
10:114299412:ATCT:A	acceptor_gain	1.0000
10:114299413:TCTC:T	acceptor_loss	1.0000
10:114299414:CT:C	acceptor_gain	1.0000
10:114299415:TC:T	acceptor_loss	1.0000
10:114299416:C:CA	acceptor_loss	1.0000

AlphaMissense

5359 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
10:114304723:A:G	L427P	1.000
10:114313879:A:G	W262R	1.000
10:114313879:A:T	W262R	1.000
10:114313911:A:G	L251P	1.000
10:114313947:A:G	L239P	1.000
10:114314047:A:C	Y206D	1.000
10:114315564:A:G	L203P	1.000
10:114315599:C:A	W191C	1.000
10:114315599:C:G	W191C	1.000
10:114315601:A:G	W191R	1.000
10:114315601:A:T	W191R	1.000
10:114315606:C:T	G189E	1.000
10:114315621:C:G	R184P	1.000
10:114315622:G:T	R184S	1.000
10:114315627:A:G	L182P	1.000
10:114315629:G:C	F181L	1.000
10:114315629:G:T	F181L	1.000
10:114315631:A:G	F181L	1.000
10:114296063:C:A	W812C	0.999
10:114296063:C:G	W812C	0.999
10:114302354:G:T	A472D	0.999
10:114302444:A:G	L442P	0.999
10:114302453:A:G	L439P	0.999
10:114302457:A:G	W438R	0.999
10:114302457:A:T	W438R	0.999
10:114302462:C:T	G436D	0.999
10:114302463:C:A	G436C	0.999
10:114302463:C:G	G436R	0.999
10:114304723:A:T	L427H	0.999
10:114304759:A:G	F415S	0.999

dbSNP variants (sampled 300 via entrez): RS1000008829 (10:114374874 T>C), RS1000013521 (10:114311184 T>C), RS1000027226 (10:114390711 ACT>A), RS1000039107 (10:114360389 A>T), RS1000047495 (10:114336832 A>G), RS1000116339 (10:114288680 G>A,C), RS1000144058 (10:114285564 G>A), RS1000145303 (10:114399313 T>A), RS1000163171 (10:114392780 C>T), RS1000179973 (10:114363731 C>T), RS1000212037 (10:114369452 G>A,C), RS1000235314 (10:114316400 T>A,G), RS1000265488 (10:114330513 A>T), RS1000302215 (10:114381532 C>A,T), RS1000314984 (10:114291034 G>A,C)

Disease associations

OMIM: gene MIM:612420 | disease phenotypes:

GenCC curated gene-disease

Mondo (1): vesicoureteral reflux (MONDO:0006007)

Orphanet (0):

HPO phenotypes

1 total (1 of 1 shown, HPO-id order):

HPO	Term
HP:0000076	Vesicoureteral reflux

GWAS associations

6 associations (top):

Study	Trait	p-value
GCST000579_59	Cognitive performance	4.000000e-06
GCST004722_1	Left ventricular obstructive tract defect (maternal effect)	7.000000e-06
GCST005876_1	Systolic blood pressure	8.000000e-08
GCST009391_718	Metabolite levels	5.000000e-06
GCST90002397_553	Mean spheric corpuscular volume	7.000000e-09
GCST90002401_171	Platelet distribution width	1.000000e-12

EFO canonical traits (4, from GWAS)

EFO ID	Trait name
EFO:0003926	neuropsychological test
EFO:0006335	systolic blood pressure
EFO:0010532	salicylurate measurement
EFO:0007984	platelet component distribution width

MeSH disease descriptors (1)

Descriptor	Name	Tree numbers
D014718	Vesico-Ureteral Reflux	C12.050.351.968.829.920; C12.200.777.829.920; C12.950.829.920

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	affects cotreatment, increases expression	4
sodium arsenite	affects expression, decreases expression, increases expression	3
mercuric bromide	decreases expression, affects cotreatment	2
Benzo(a)pyrene	affects methylation, increases expression, increases methylation	2
Diethylhexyl Phthalate	decreases expression, decreases methylation, increases abundance, increases expression	2
Estradiol	affects cotreatment, increases expression, decreases expression	2
Progesterone	decreases expression	2
aristolochic acid I	increases expression	1
FR900359	decreases phosphorylation	1
methylmercuric chloride	decreases expression	1
triphenyl phosphate	affects expression	1
propionaldehyde	increases expression	1
bisphenol A	decreases methylation	1
trichostatin A	increases expression	1
arsenite	increases methylation	1
mono-(2-ethylhexyl)phthalate	decreases methylation, increases abundance	1
boron nitride	decreases expression	1
butyraldehyde	increases expression	1
perfluorooctanoic acid	increases expression	1
benzo(e)pyrene	increases methylation	1
aflatoxin B2	increases methylation	1
nickel sulfate	decreases expression	1
4-nonylphenol	decreases expression, affects cotreatment	1
pentanal	increases expression	1
di-n-butylphosphoric acid	affects expression	1
4-tert-octylphenol	affects cotreatment, decreases expression	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	increases expression, affects cotreatment, decreases expression	1
abrine	decreases expression	1
dorsomorphin	affects cotreatment, decreases expression, increases expression	1
Decitabine	affects expression	1

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT00004487	PHASE3	UNKNOWN	Phase III Study of Chondrocyte Alginate Gel Suspension in Pediatric Patients With Vesicoureteral Reflux
NCT00405704	PHASE3	COMPLETED	Randomized Intervention for Children With Vesicoureteral Reflux (RIVUR)
NCT02021006	PHASE3	UNKNOWN	Antibiotic Prophylaxis and Renal Damage In Congenital Abnormalities of the Kidney and Urinary Tract
NCT02786810	PHASE2	COMPLETED	Contrast Enhanced Ultrasound for Evaluation of Reflux Nephropathy
NCT00186199	Not specified	COMPLETED	Determination of Voiding Patterns of Children With Vesicoureteral Reflux
NCT00815334	Not specified	COMPLETED	Efficacy of Endoscopic Subureteral Injection for Vesicoureteral Reflux in Adults With Decreased Bladder Compliance
NCT00830479	Not specified	WITHDRAWN	Study of Endoscopic Versus Open Surgery for Urinary Reflux
NCT00894465	Not specified	TERMINATED	Midazolam Effect in Children Undergoing Voiding Cystourethrogram (VCUG)
NCT01137929	Not specified	WITHDRAWN	Bacterial and Host Genetic Risk Factors in Acute Pyelonephritis
NCT01373385	Not specified	COMPLETED	Prospective Pediatric Vesicoureteral Reflux Surgery Database
NCT01483105	Not specified	COMPLETED	DVD-Based Training Program in Self-Hypnosis for Children
NCT01578291	Not specified	TERMINATED	Parent Education and Medical Play: A Comparison of Psychological Preparation Strategies for Voiding Cystourethrogram
NCT01780493	Not specified	COMPLETED	The Long Term Follow-Up Results Of The Direct Nipple Ureteroneocystostomy Technique
NCT01926353	Not specified	COMPLETED	Polyacrylate Polyalcohol Copolymer for Vesicoureteral Reflux