PHACTR4

Summary

PHACTR4 (phosphatase and actin regulator 4, HGNC:25793) is a protein-coding gene on chromosome 1p35.3, encoding Phosphatase and actin regulator 4 (Q8IZ21). Regulator of protein phosphatase 1 (PP1) required for neural tube and optic fissure closure, and enteric neural crest cell (ENCCs) migration during development.

This gene encodes a member of the phosphatase and actin regulator (PHACTR) family. Other PHACTR family members have been shown to inhibit protein phosphatase 1 (PP1) activity, and the homolog of this gene in the mouse has been shown to interact with actin and PP1. Multiple transcript variants encoding different isoforms have been found for this gene.

Source: NCBI Gene 65979 — RefSeq curated summary.

At a glance

• GWAS associations: 4
• Clinical variants (ClinVar): 122 total
• MANE Select transcript: NM_001048183

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:25793
Approved symbol	PHACTR4
Name	phosphatase and actin regulator 4
Location	1p35.3
Locus type	gene with protein product
Status	Approved
Aliases	FLJ13171, PPP1R124
Ensembl gene	ENSG00000204138
Ensembl biotype	protein_coding
OMIM	608726
Entrez	65979

Gene structure

Transcript identifiers

Ensembl transcripts: 22 — 17 protein_coding, 2 nonsense_mediated_decay, 2 protein_coding_CDS_not_defined, 1 retained_intron

ENST00000373836, ENST00000373839, ENST00000463428, ENST00000493669, ENST00000632202, ENST00000632421, ENST00000632964, ENST00000633167, ENST00000633371, ENST00000897303, ENST00000897304, ENST00000897305, ENST00000897306, ENST00000897307, ENST00000911332, ENST00000911333, ENST00000956537, ENST00000956538, ENST00000956539, ENST00000956540, ENST00000956541, ENST00000956542

RefSeq mRNA: 6 — MANE Select: NM_001048183 NM_001048183, NM_001350158, NM_001350159, NM_001350160, NM_001350161, NM_023923

CCDS: CCDS41293, CCDS41294

Canonical transcript exons

ENST00000373839 — 14 exons

Exon	Start	End
ENSE00001461705	28369740	28369825
ENSE00001946572	28496534	28500364
ENSE00003465541	28473554	28474151
ENSE00003488411	28490951	28491012
ENSE00003521479	28459085	28459258
ENSE00003530431	28489170	28489225
ENSE00003541759	28480451	28480604
ENSE00003555883	28466382	28466768
ENSE00003581100	28476107	28476291
ENSE00003584556	28465685	28465849
ENSE00003588490	28493015	28493091
ENSE00003647411	28407410	28407463
ENSE00003669664	28491650	28491787
ENSE00003676576	28460212	28460292

Expression profiles

Bgee: expression breadth ubiquitous, 276 present calls, max score 96.54.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 25.6590 / max 1288.6677, expressed in 1806 samples.

FANTOM5 promoters (8 alternative TSS)

Promoter ID	TPM avg	Samples expressed
1792	15.7144	1786
1797	6.2127	1054
1794	1.7630	904
1791	0.7127	426
1793	0.6215	404
1798	0.4434	102
1790	0.1755	71
1796	0.0158	6

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
pharyngeal mucosa	UBERON:0000355	96.54	gold quality
esophagus squamous epithelium	UBERON:0006920	95.37	gold quality
lower esophagus mucosa	UBERON:0035834	94.94	gold quality
epithelium of esophagus	UBERON:0001976	93.71	gold quality
oral cavity	UBERON:0000167	93.16	gold quality
nipple	UBERON:0002030	92.72	gold quality
skin of hip	UBERON:0001554	92.50	gold quality
upper leg skin	UBERON:0004262	92.29	gold quality
decidua	UBERON:0002450	91.95	gold quality
esophagus mucosa	UBERON:0002469	91.62	gold quality
gingiva	UBERON:0001828	91.43	gold quality
body of tongue	UBERON:0011876	91.34	gold quality
gingival epithelium	UBERON:0001949	91.01	gold quality
renal medulla	UBERON:0000362	90.79	gold quality
sural nerve	UBERON:0015488	90.67	gold quality
amniotic fluid	UBERON:0000173	90.61	gold quality
buccal mucosa cell	CL:0002336	90.10	gold quality
superior surface of tongue	UBERON:0007371	90.05	gold quality
cardia of stomach	UBERON:0001162	89.99	gold quality
jejunal mucosa	UBERON:0000399	89.85	gold quality
mucosa of sigmoid colon	UBERON:0004993	89.73	gold quality
ganglionic eminence	UBERON:0004023	89.72	gold quality
colonic mucosa	UBERON:0000317	89.49	gold quality
bronchial epithelial cell	CL:0002328	89.28	gold quality
tongue	UBERON:0001723	88.93	gold quality
tibia	UBERON:0000979	88.90	gold quality
pylorus	UBERON:0001166	88.75	gold quality
vagina	UBERON:0000996	88.74	gold quality
rectum	UBERON:0001052	88.64	gold quality
mammalian vulva	UBERON:0000997	88.55	gold quality

Single-cell (SCXA)

Detected in 7 experiment(s), a significant marker in 6.

Experiment	Marker?	Max mean expression
E-CURD-88	yes	1971.51
E-MTAB-7037	yes	485.22
E-MTAB-8060	yes	144.54
E-MTAB-8142	yes	83.43
E-MTAB-6701	yes	32.31
E-HCAD-6	no	643.65
E-ANND-3	no	0.00

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

181 targeting PHACTR4, 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-4262	100.00	73.26	3931
HSA-MIR-4533	100.00	69.48	2758
HSA-MIR-12118	100.00	65.88	1270
HSA-MIR-4476	100.00	68.18	2030
HSA-MIR-6876-5P	100.00	67.68	2126
HSA-MIR-3613-3P	100.00	76.36	7965
HSA-MIR-1252-5P	100.00	69.80	2774
HSA-MIR-4425	100.00	67.59	1049
HSA-MIR-181A-5P	99.99	72.96	2995
HSA-MIR-181B-5P	99.99	72.97	2996
HSA-MIR-181C-5P	99.99	72.95	2996
HSA-MIR-371B-5P	99.99	75.34	4759
HSA-MIR-181D-5P	99.99	73.04	2997
HSA-MIR-4531	99.99	69.70	3181
HSA-MIR-373-5P	99.98	75.36	4753
HSA-MIR-616-5P	99.98	75.58	4775
HSA-MIR-6891-5P	99.98	66.53	1372
HSA-MIR-3173-3P	99.98	66.49	1217
HSA-MIR-4775	99.98	75.00	6394
HSA-MIR-512-3P	99.97	67.35	1049
HSA-MIR-3148	99.97	75.06	6478
HSA-MIR-302E	99.96	70.74	2669
HSA-MIR-548AJ-3P	99.96	73.38	5345
HSA-MIR-548X-3P	99.96	73.38	5345
HSA-MIR-4666A-3P	99.96	71.71	3434
HSA-MIR-6778-3P	99.96	67.29	2693
HSA-MIR-96-5P	99.95	72.80	2140
HSA-MIR-548J-3P	99.94	72.61	4881
HSA-MIR-9983-3P	99.94	71.48	3631
HSA-MIR-1236-3P	99.94	68.04	1695

Literature-anchored findings (GeneRIF, showing 3)

• The authors show that rat Phactr1 inhibits PP1 activity in vitro, and mouse Phactr4 coimmunoprecipitates with actin and PP1 in human cells. (PMID:15107502)
• Data indicate that Phactr4 acts as a tumor suppressor that is deleted and mutant in several cancers. (PMID:23319639)
• Identification of PHACTR4 as A New Biomarker for Diabetic Nephropathy and Its Correlation with Glomerular Endothelial Dysfunction and Immune Infiltration. (PMID:38043109)

Cross-species orthologs

6 orthologs

Organism	Symbol	Gene ID
danio_rerio	phactr4a	ENSDARG00000015552
danio_rerio	phactr4b	ENSDARG00000032221
mus_musculus	Phactr4	ENSMUSG00000066043
rattus_norvegicus	Phactr4	ENSRNOG00000046922
drosophila_melanogaster	CG32264	FBGN0052264
caenorhabditis_elegans	phac-1	WBGENE00009174

Paralogs (3): PHACTR3 (ENSG00000087495), PHACTR1 (ENSG00000112137), PHACTR2 (ENSG00000112419)

Protein

Protein identifiers

Phosphatase and actin regulator 4 — Q8IZ21 (reviewed: Q8IZ21)

All UniProt accessions (4): A0A0J9YVR0, A0A0J9YWV8, A0A0J9YY52, Q8IZ21

UniProt curated annotations — full annotation on UniProt →

Function. Regulator of protein phosphatase 1 (PP1) required for neural tube and optic fissure closure, and enteric neural crest cell (ENCCs) migration during development. Acts as an activator of PP1 by interacting with PPP1CA and preventing phosphorylation of PPP1CA at ‘Thr-320’. During neural tube closure, localizes to the ventral neural tube and activates PP1, leading to down-regulate cell proliferation within cranial neural tissue and the neural retina. Also acts as a regulator of migration of enteric neural crest cells (ENCCs) by activating PP1, leading to dephosphorylation and subsequent activation of cofilin (COF1 or COF2) and repression of the integrin signaling through the RHO/ROCK pathway.

Subunit / interactions. Binds PPP1CA and actin.

Subcellular location. Cytoplasm. Cell projection. Lamellipodium.

Miscellaneous. May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.

Similarity. Belongs to the phosphatase and actin regulator family.

Isoforms (4)

UniProt ID	Names	Canonical?
Q8IZ21-1	1	yes
Q8IZ21-2	2
Q8IZ21-3	3
Q8IZ21-4	4

RefSeq proteins (6): NP_001041648, NP_001337087, NP_001337088, NP_001337089, NP_001337090, NP_076412 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR004018	RPEL_repeat	Repeat

Pfam: PF02755

UniProt features (43 total): modified residue 19, compositionally biased region 9, region of interest 5, splice variant 4, repeat 3, sequence conflict 2, chain 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q8IZ21-F1	58.70	0.15

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 (19): 116, 118, 131, 147, 270, 291, 342, 344, 358, 427, 432, 443, 453, 464, 514, 516, 557, 590, 628

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 227 (showing top): GOBP_MORPHOGENESIS_OF_AN_EPITHELIUM, GOBP_EMBRYO_DEVELOPMENT_ENDING_IN_BIRTH_OR_EGG_HATCHING, GOBP_EPITHELIUM_DEVELOPMENT, GOBP_NEURAL_TUBE_DEVELOPMENT, BROWNE_HCMV_INFECTION_12HR_UP, GOBP_MORPHOGENESIS_OF_EMBRYONIC_EPITHELIUM, GOBP_AMEBOIDAL_TYPE_CELL_MIGRATION, BILD_HRAS_ONCOGENIC_SIGNATURE, GOBP_POSITIVE_REGULATION_OF_CATALYTIC_ACTIVITY, GOBP_ANIMAL_ORGAN_MORPHOGENESIS, GOBP_POSITIVE_REGULATION_OF_MOLECULAR_FUNCTION, GOBP_MESENCHYMAL_CELL_DIFFERENTIATION, GOBP_EMBRYONIC_CAMERA_TYPE_EYE_MORPHOGENESIS, GOBP_EMBRYONIC_ORGAN_MORPHOGENESIS, GOBP_MORPHOGENESIS_OF_AN_EPITHELIAL_SHEET

GO Biological Process (10): neural crest cell migration (GO:0001755), neural tube closure (GO:0001843), Rho protein signal transduction (GO:0007266), actin cytoskeleton organization (GO:0030036), positive regulation of catalytic activity (GO:0043085), enteric nervous system development (GO:0048484), regulation of cell cycle (GO:0051726), closure of optic fissure (GO:0061386), negative regulation of integrin-mediated signaling pathway (GO:2001045), nervous system development (GO:0007399)

GO Molecular Function (3): actin binding (GO:0003779), protein phosphatase 1 binding (GO:0008157), protein phosphatase activator activity (GO:0072542)

GO Cellular Component (3): cytoplasm (GO:0005737), lamellipodium (GO:0030027), cell projection (GO:0042995)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
system development	2
cellular anatomical structure	2
neural crest cell development	1
mesenchymal cell migration	1
primary neural tube formation	1
tube closure	1
small GTPase-mediated signal transduction	1
cytoskeleton organization	1
actin filament-based process	1
catalytic activity	1
positive regulation of molecular function	1
regulation of catalytic activity	1
autonomic nervous system development	1
cell cycle	1
regulation of cellular process	1
morphogenesis of an epithelial sheet	1
optic cup morphogenesis involved in camera-type eye development	1
integrin-mediated signaling pathway	1
negative regulation of signal transduction	1
regulation of integrin-mediated signaling pathway	1
cytoskeletal protein binding	1
protein phosphatase binding	1
phosphoprotein phosphatase activity	1
phosphatase activator activity	1
protein phosphatase regulator activity	1
intracellular anatomical structure	1
cell leading edge	1
plasma membrane bounded cell projection	1

Protein interactions and networks

STRING

742 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
PHACTR4	CAMK2D	Q13557	522
PHACTR4	SSH2	Q76I76	515
PHACTR4	CFL1	P23528	513
PHACTR4	E2F1	Q01094	497
PHACTR4	VAX2	Q9UIW0	417
PHACTR4	VAX1	Q5SQQ9	402
PHACTR4	NACAD	O15069	401
PHACTR4	SHROOM3	Q8TF72	400
PHACTR4	N4BP2	Q86UW6	366
PHACTR4	KPNA4	O00629	366
PHACTR4	KLF4	P78338	365
PHACTR4	OSBPL9	Q96SU4	361
PHACTR4	MARCKSL1	P49006	360
PHACTR4	HADH	Q16836	360
PHACTR4	SMIM19	Q96E16	358

IntAct

73 interactions, top by confidence:

A	B	Type	Score
IFIT2	IFIT3	psi-mi:“MI:0914”(association)	0.780
PPP1CC	CCDC85C	psi-mi:“MI:0914”(association)	0.740
CFTR	ESYT2	psi-mi:“MI:2364”(proximity)	0.710
PPP1CA	CCDC85C	psi-mi:“MI:0914”(association)	0.670
YWHAG	BLTP3B	psi-mi:“MI:2364”(proximity)	0.640
BCL7A	ARID1A	psi-mi:“MI:0914”(association)	0.640
BCL7C	ARID1A	psi-mi:“MI:0914”(association)	0.640
YWHAH	PLEKHG3	psi-mi:“MI:0914”(association)	0.610
YWHAE	RGS12	psi-mi:“MI:0914”(association)	0.610
IGF1R	PIK3R2	psi-mi:“MI:2364”(proximity)	0.590
YWHAH	BLTP3B	psi-mi:“MI:2364”(proximity)	0.570
YWHAE	SRSF10	psi-mi:“MI:0914”(association)	0.560
YWHAQ	IGLC7	psi-mi:“MI:0914”(association)	0.530
CRK	ARHGAP42	psi-mi:“MI:0914”(association)	0.530
BAG2	HGS	psi-mi:“MI:0914”(association)	0.530
RAB9B	CHM	psi-mi:“MI:0914”(association)	0.530
YWHAB	PLEKHG3	psi-mi:“MI:0914”(association)	0.480
YWHAQ	PLEKHG3	psi-mi:“MI:0914”(association)	0.480
	MYL12B	psi-mi:“MI:0914”(association)	0.460
PKM	PHACTR4	psi-mi:“MI:0217”(phosphorylation reaction)	0.440
PHACTR4	RALY	psi-mi:“MI:0915”(physical association)	0.400
PHACTR4	HNRNPCL2	psi-mi:“MI:0915”(physical association)	0.400
GRB2	PHACTR4	psi-mi:“MI:0915”(physical association)	0.370

BioGRID (159): PHACTR4 (Affinity Capture-MS), PHACTR4 (Affinity Capture-MS), PHACTR4 (Affinity Capture-MS), PHACTR4 (Proximity Label-MS), PHACTR4 (Proximity Label-MS), PHACTR4 (Proximity Label-MS), PHACTR4 (Affinity Capture-MS), PHACTR4 (Affinity Capture-MS), PHACTR4 (Affinity Capture-MS), PHACTR4 (Affinity Capture-MS), PHACTR4 (Affinity Capture-MS), PHACTR4 (Affinity Capture-MS), PHACTR4 (Proximity Label-MS), PHACTR4 (Affinity Capture-MS), PHACTR4 (Affinity Capture-MS)

ESM2 similar proteins: A0A140LFM6, A0A1L8H8C0, A0A1L8HFX9, A0A2R6X6S3, A0JM08, A2ARZ3, A2RUV4, A5WUN7, A6QP06, D4AEC2, E9Q309, O76039, P51960, Q03898, Q05935, Q06190, Q08AD1, Q08D57, Q0WPH8, Q3KQW7, Q3UTQ8, Q498L0, Q5RAU1, Q5SW79, Q5T0W9, Q5T5U3, Q5VT06, Q62770, Q66J90, Q69Z38, Q6A065, Q6DFG0, Q6DFV3, Q6IRN6, Q71M21, Q80TN7, Q8AV28, Q8C1B1, Q8IVL0, Q8IZ21

Diamond homologs: F1MCY2, F1N8V3, F1QIC4, F7EC58, O75167, P62024, P62025, Q2M3X8, Q501J7, Q5HZA1, Q5RAU1, Q5XHF3, Q6GLU8, Q6PEI3, Q6RFY2, Q801X6, Q8BYK5, Q8IZ21, Q96KR7, Q9C0D0

SIGNOR signaling

0 interactions.

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 77 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
Activation of BAD and translocation to mitochondria	7	84.6×	2e-10
Chk1/Chk2(Cds1) mediated inactivation of Cyclin B:Cdk1 complex	7	74.6×	3e-10
SARS-CoV-1 targets host intracellular signalling and regulatory pathways	7	74.6×	3e-10
Activation of BH3-only proteins	7	55.2×	2e-09
RHO GTPases activate PKNs	8	40.3×	2e-09
Intrinsic Pathway for Apoptosis	7	32.5×	7e-08
FOXO-mediated transcription	5	26.7×	3e-05
Translocation of SLC2A4 (GLUT4) to the plasma membrane	9	22.1×	1e-08

GO biological processes:

GO term	Partners	Fold	FDR
protein targeting	5	26.2×	9e-04
intracellular protein localization	7	10.5×	9e-04
actin cytoskeleton organization	7	7.9×	3e-03

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	94
Likely benign	5
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

2083 predictions. Top by Δscore:

Variant	Effect	Δscore
1:28459076:A:AG	acceptor_gain	1.0000
1:28459076:AT:A	acceptor_gain	1.0000
1:28459077:T:A	acceptor_gain	1.0000
1:28459077:T:G	acceptor_gain	1.0000
1:28459080:A:AG	acceptor_gain	1.0000
1:28459081:A:G	acceptor_gain	1.0000
1:28459082:CA:C	acceptor_loss	1.0000
1:28459083:A:AG	acceptor_gain	1.0000
1:28459083:A:AT	acceptor_loss	1.0000
1:28459083:AGAG:A	acceptor_gain	1.0000
1:28459084:G:GT	acceptor_gain	1.0000
1:28459084:GA:G	acceptor_gain	1.0000
1:28459084:GAGG:G	acceptor_gain	1.0000
1:28459084:GAGGA:G	acceptor_gain	1.0000
1:28459167:G:GT	donor_gain	1.0000
1:28459215:G:GT	donor_gain	1.0000
1:28459218:G:GT	donor_gain	1.0000
1:28459219:A:T	donor_gain	1.0000
1:28459255:GAAG:G	donor_gain	1.0000
1:28459257:AG:A	donor_loss	1.0000
1:28459258:GGTGA:G	donor_loss	1.0000
1:28459259:G:GG	donor_gain	1.0000
1:28459259:GTG:G	donor_loss	1.0000
1:28459260:T:A	donor_loss	1.0000
1:28460210:A:AG	acceptor_gain	1.0000
1:28460211:G:GA	acceptor_loss	1.0000
1:28460211:G:GG	acceptor_gain	1.0000
1:28460288:GCAAG:G	donor_gain	1.0000
1:28460289:CAAGG:C	donor_loss	1.0000
1:28460290:AAGG:A	donor_loss	1.0000

AlphaMissense

4592 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
1:28480598:T:C	L585P	1.000
1:28489175:T:C	L589P	1.000
1:28489185:A:C	R592S	1.000
1:28489185:A:T	R592S	1.000
1:28489202:T:C	L598P	1.000
1:28489211:G:C	R601P	1.000
1:28490996:G:C	R621P	1.000
1:28491002:T:A	L623H	1.000
1:28491002:T:C	L623P	1.000
1:28491651:T:A	L627H	1.000
1:28491651:T:C	L627P	1.000
1:28491660:G:T	R630M	1.000
1:28491661:G:C	R630S	1.000
1:28491661:G:T	R630S	1.000
1:28491662:C:T	P631S	1.000
1:28491663:C:A	P631Q	1.000
1:28491678:T:C	L636P	1.000
1:28491701:T:C	F644L	1.000
1:28491702:T:C	F644S	1.000
1:28491703:T:A	F644L	1.000
1:28491703:T:G	F644L	1.000
1:28491761:T:A	W664R	1.000
1:28491761:T:C	W664R	1.000
1:28491763:G:C	W664C	1.000
1:28491763:G:T	W664C	1.000
1:28491771:T:A	L667Q	1.000
1:28491771:T:C	L667P	1.000
1:28491787:G:C	K672N	1.000
1:28491787:G:T	K672N	1.000
1:28493022:T:A	I675K	1.000

dbSNP variants (sampled 300 via entrez): RS1000021019 (1:28490469 T>G), RS1000030380 (1:28479602 G>A), RS1000048504 (1:28487479 A>C,G), RS1000059480 (1:28398735 C>T), RS1000067611 (1:28473434 T>C), RS1000072566 (1:28419518 A>C), RS1000086547 (1:28456135 C>G), RS1000112125 (1:28426814 C>T), RS1000146434 (1:28465412 A>G,T), RS1000149173 (1:28374331 C>T), RS1000160328 (1:28374535 C>G), RS1000206828 (1:28423143 C>A,T), RS1000223925 (1:28451561 T>G), RS1000245357 (1:28433609 C>A,G,T), RS1000249630 (1:28468212 T>C)

Disease associations

OMIM: gene MIM:608726 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

4 associations (top):

Study	Trait	p-value
GCST004484_3	Plasma trimethylamine N-oxide levels	7.000000e-08
GCST006629_45	Pulse pressure	7.000000e-18
GCST007269_20	Pulse pressure	2.000000e-11
GCST008363_14	Offspring birth weight	3.000000e-08

EFO canonical traits (4, from GWAS)

EFO ID	Trait name
EFO:0005691	plasma trimethylamine N-oxide measurement
EFO:0005763	pulse pressure measurement
EFO:0004344	birth weight
EFO:0005939	parental genotype effect measurement

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	affects expression, decreases expression	3
sodium arsenite	decreases expression, increases abundance, increases expression	2
FR900359	affects phosphorylation	1
ginger extract	decreases reaction, increases abundance, increases expression	1
dicrotophos	increases expression	1
triphenyl phosphate	affects expression	1
bisphenol A	increases expression, decreases reaction, increases abundance	1
arsenite	affects binding, decreases reaction	1
butyraldehyde	decreases expression	1
benzo(e)pyrene	increases methylation	1
potassium chromate(VI)	affects cotreatment, decreases expression	1
coumarin	affects phosphorylation	1
epigallocatechin gallate	affects cotreatment, decreases expression	1
di-n-butylphosphoric acid	affects expression	1
Acetaminophen	increases expression	1
Air Pollutants	decreases expression, increases abundance	1
Arsenic	increases abundance, increases expression	1
Atrazine	decreases expression	1
Benzo(a)pyrene	affects methylation, increases methylation	1
Cadmium	decreases expression, increases abundance	1
Caffeine	affects phosphorylation	1
Cisplatin	decreases expression	1
Dichlorodiphenyl Dichloroethylene	decreases expression	1
Enzyme Inhibitors	decreases activity, increases O-linked glycosylation	1
Formaldehyde	decreases expression	1
Ivermectin	decreases expression	1
Methapyrilene	increases methylation	1
Oils, Volatile	increases expression, decreases reaction, increases abundance	1
Phthalic Acids	decreases methylation	1
Quercetin	increases phosphorylation	1

Clinical trials (associated diseases)

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