PPP1R9A

Summary

PPP1R9A (protein phosphatase 1 regulatory subunit 9A, HGNC:14946) is a protein-coding gene on chromosome 7q21.3, encoding Neurabin-1 (Q9ULJ8). Binds to actin filaments (F-actin) and shows cross-linking activity.

This gene is imprinted, and located in a cluster of imprinted genes on chromosome 7q12. This gene is transcribed in both neuronal and multiple embryonic tissues, and it is maternally expressed mainly in embryonic skeletal muscle tissues and biallelically expressed in other embryonic tissues. The protein encoded by this gene includes a PDZ domain and a sterile alpha motif (SAM). It is a regulatory subunit of protein phosphatase I, and controls actin cytoskeleton reorganization. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.

Source: NCBI Gene 55607 — RefSeq curated summary.

At a glance

• GWAS associations: 3
• Clinical variants (ClinVar): 192 total
• Dosage sensitivity (ClinGen): haploinsufficiency no evidence, triplosensitivity no evidence
• MANE Select transcript: NM_001166160

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:14946
Approved symbol	PPP1R9A
Name	protein phosphatase 1 regulatory subunit 9A
Location	7q21.3
Locus type	gene with protein product
Status	Approved
Aliases	Neurabin-I, KIAA1222, FLJ20068
Ensembl gene	ENSG00000158528
Ensembl biotype	protein_coding
OMIM	602468
Entrez	55607

Gene structure

Transcript identifiers

Ensembl transcripts: 24 — 24 protein_coding

ENST00000289495, ENST00000340694, ENST00000413325, ENST00000422324, ENST00000424654, ENST00000433360, ENST00000433881, ENST00000456331, ENST00000861925, ENST00000861926, ENST00000861927, ENST00000861928, ENST00000861929, ENST00000861930, ENST00000861931, ENST00000925190, ENST00000969570, ENST00000969571, ENST00000969572, ENST00000969573, ENST00000969574, ENST00000969575, ENST00000969576, ENST00000969577

RefSeq mRNA: 5 — MANE Select: NM_001166160 NM_001166160, NM_001166161, NM_001166162, NM_001166163, NM_017650

CCDS: CCDS34683, CCDS55127, CCDS55128, CCDS55129

Canonical transcript exons

ENST00000433360 — 20 exons

Exon	Start	End
ENSE00001039401	95269207	95269507
ENSE00001039412	95274085	95274168
ENSE00001039414	95273899	95273986
ENSE00001039417	95286206	95286325
ENSE00001039439	95288536	95288718
ENSE00001379770	94909898	94911508
ENSE00001592551	95251762	95251858
ENSE00001593289	95120712	95120832
ENSE00001628822	95225961	95226116
ENSE00001633288	95268550	95268707
ENSE00001671576	95247473	95247526
ENSE00001679160	95161867	95161971
ENSE00001714564	95250026	95250255
ENSE00001720357	95251959	95252130
ENSE00001734342	95290091	95296400
ENSE00001745824	95284018	95284330
ENSE00001780046	95198349	95198484
ENSE00001793819	95111259	95111391
ENSE00001803081	95203665	95203730
ENSE00003842929	94907594	94907702

Expression profiles

Bgee: expression breadth ubiquitous, 257 present calls, max score 98.31.

FANTOM5 (CAGE): breadth broad, TPM avg 5.6656 / max 215.3042, expressed in 888 samples.

FANTOM5 promoters (9 alternative TSS)

Promoter ID	TPM avg	Samples expressed
79735	3.5510	817
79736	0.9650	402
79737	0.8236	255
79733	0.1034	42
79739	0.1026	54
79738	0.0666	31
79734	0.0435	19
79741	0.0054	1
79740	0.0044	2

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
Brodmann (1909) area 23	UBERON:0013554	98.31	gold quality
endothelial cell	CL:0000115	97.12	gold quality
parietal lobe	UBERON:0001872	95.59	gold quality
postcentral gyrus	UBERON:0002581	95.43	gold quality
cerebellar vermis	UBERON:0004720	95.41	gold quality
entorhinal cortex	UBERON:0002728	95.19	gold quality
pons	UBERON:0000988	94.78	gold quality
adrenal tissue	UBERON:0018303	94.52	gold quality
lateral globus pallidus	UBERON:0002476	93.68	gold quality
middle temporal gyrus	UBERON:0002771	93.53	gold quality
cranial nerve II	UBERON:0000941	93.33	gold quality
corpus callosum	UBERON:0002336	93.30	gold quality
sural nerve	UBERON:0015488	93.28	gold quality
superior frontal gyrus	UBERON:0002661	93.06	gold quality
pigmented layer of retina	UBERON:0001782	92.94	gold quality
retina	UBERON:0000966	92.92	gold quality
superior vestibular nucleus	UBERON:0007227	92.22	gold quality
trigeminal ganglion	UBERON:0001675	92.15	gold quality
ventral tegmental area	UBERON:0002691	91.43	gold quality
lateral nuclear group of thalamus	UBERON:0002736	91.35	gold quality
primary visual cortex	UBERON:0002436	90.89	gold quality
occipital lobe	UBERON:0002021	90.81	gold quality
substantia nigra pars compacta	UBERON:0001965	90.79	gold quality
pancreatic ductal cell	CL:0002079	90.28	gold quality
dorsal root ganglion	UBERON:0000044	89.98	gold quality
globus pallidus	UBERON:0001875	89.63	gold quality
subthalamic nucleus	UBERON:0001906	89.55	gold quality
medial globus pallidus	UBERON:0002477	88.96	gold quality
medulla oblongata	UBERON:0001896	88.41	gold quality
substantia nigra pars reticulata	UBERON:0001966	88.38	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	16.79

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

243 targeting PPP1R9A, 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-5692A	100.00	74.40	6850
HSA-MIR-6867-5P	100.00	82.21	3464
HSA-MIR-4455	100.00	65.48	1587
HSA-MIR-340-5P	100.00	72.50	4437
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-4262	100.00	73.26	3931
HSA-MIR-3646	100.00	73.56	5283
HSA-LET-7A-3P	100.00	74.03	3932
HSA-LET-7B-3P	100.00	74.08	3913
HSA-LET-7F-1-3P	100.00	74.02	3928
HSA-MIR-98-3P	100.00	74.08	3907
HSA-MIR-6873-3P	100.00	71.42	2626
HSA-MIR-4283	100.00	66.42	2097
HSA-MIR-1277-5P	100.00	73.95	5056
HSA-MIR-200B-3P	100.00	73.31	2693
HSA-MIR-200C-3P	100.00	73.35	2685
HSA-MIR-429	100.00	73.44	2698
HSA-MIR-196A-1-3P	99.99	72.15	2772
HSA-MIR-520G-5P	99.99	66.76	658
HSA-MIR-548C-3P	99.99	74.01	7587
HSA-MIR-4282	99.99	75.36	6408
HSA-MIR-223-3P	99.99	70.14	1140
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-181D-5P	99.99	73.04	2997

Functional genomics

ClinGen dosage: haploinsufficiency 0 (no evidence), triplosensitivity 0 (no evidence). ClinGen Gene Dosage Map

Literature-anchored findings (GeneRIF, showing 5)

• PPP1R9A gene is imprinted, with preferential expression from the maternal allele in embryonic skeletal muscle and extra-embryonic tissues, but biallelic expression in other embryonic tissues. (PMID:15286155)
• Studies suggest that any change in substrate specificity of the spinophilin : PP1 holoenzyme complex was probably due to direct modification of a PP1 substrate binding surface. (PMID:22284538)
• CHN2, ABCB1 and PPP1R9A expression on chromosome 7 is implicated in the pathogenesis of hepatosplenic T-cell lymphoma distinguishing it from other malignancies. (PMID:25057852)
• MARCKS and PPP1R9A might contribute to spine loss in schizophrenia and bipolar disorder through their interactions. (PMID:25757715)
• Hyper-N-glycosylated SAMD14 and neurabin-I as driver autoantigens of primary central nervous system lymphoma. (PMID:30249786)

Cross-species orthologs

5 orthologs

Organism	Symbol	Gene ID
danio_rerio	ppp1r9a	ENSDARG00000061304
mus_musculus	Ppp1r9a	ENSMUSG00000032827
rattus_norvegicus	Ppp1r9a	ENSRNOG00000008869
drosophila_melanogaster	Spn	FBGN0010905
caenorhabditis_elegans	nab-1	WBGENE00003516

Paralogs (2): PPP1R9B (ENSG00000108819), SAMD14 (ENSG00000167100)

Protein

Protein identifiers

Neurabin-1 — Q9ULJ8 (reviewed: Q9ULJ8)

Alternative names: Neurabin-I, Neural tissue-specific F-actin-binding protein I, Protein phosphatase 1 regulatory subunit 9A

All UniProt accessions (5): A4D1I0, B7ZLX4, C9J3G5, C9J730, Q9ULJ8

UniProt curated annotations — full annotation on UniProt →

Function. Binds to actin filaments (F-actin) and shows cross-linking activity. Binds along the sides of the F-actin. May be involved in neurite formation. Inhibits protein phosphatase 1-alpha activity.

Subunit / interactions. Possibly exists as a homodimer, homotrimer or a homotetramer. Interacts with F-actin, protein phosphatase 1 (PP1), neurabin-2 and p70-S6K.

Subcellular location. Cytoplasm. Cytoskeleton. Synapse. Synaptosome.

Domain organisation. Interacts with p70-S6K via its PDZ domain. The PP1 binding region is natively unstructured, upon PP1 binding, it acquires structure, blocks a substrate-binding site, and restricts PP1 phosphatase specificity to a subset of substrates.

Isoforms (5)

UniProt ID	Names	Canonical?
Q9ULJ8-1	1, Long	yes
Q9ULJ8-2	2, Short
Q9ULJ8-3	3
Q9ULJ8-4	4
Q9ULJ8-5	5

RefSeq proteins (5): NP_001159632, NP_001159633, NP_001159634, NP_001159635, NP_060120 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR001478	PDZ	Domain
IPR001660	SAM	Domain
IPR013761	SAM/pointed_sf	Homologous_superfamily
IPR036034	PDZ_sf	Homologous_superfamily
IPR040645	Neurabin-1/2_PDZ	Domain
IPR043446	Neurabin-like	Family

Pfam: PF00595, PF07647, PF17817

UniProt features (60 total): compositionally biased region 12, modified residue 12, region of interest 11, splice variant 6, sequence conflict 5, strand 5, coiled-coil region 3, domain 2, helix 2, chain 1, sequence variant 1

Structure

Experimental structures (PDB)

2 structures.

PDB	Method	Resolution (Å)
9GSU	X-RAY DIFFRACTION	2.36
1WF8	SOLUTION NMR

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9ULJ8-F1	60.47	0.22

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): 192, 312, 338, 371, 460, 840, 915, 928, 956, 957, 960, 974

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 146 (showing top): GSE18804_BRAIN_VS_COLON_TUMORAL_MACROPHAGE_UP, STARK_PREFRONTAL_CORTEX_22Q11_DELETION_DN, GOBP_NEUROGENESIS, BLALOCK_ALZHEIMERS_DISEASE_UP, GOBP_ACTIN_FILAMENT_ORGANIZATION, KINSEY_TARGETS_OF_EWSR1_FLII_FUSION_DN, LIAO_METASTASIS, GOMF_ACTIN_BINDING, BASAKI_YBX1_TARGETS_DN, GOCC_NEURON_PROJECTION, GOBP_CELL_PROJECTION_ORGANIZATION, GOCC_POSTSYNAPSE, GOCC_SYNAPSE, GAL_LEUKEMIC_STEM_CELL_UP, GOCC_SOMATODENDRITIC_COMPARTMENT

GO Biological Process (6): actin filament organization (GO:0007015), calcium-mediated signaling (GO:0019722), neuron projection development (GO:0031175), modulation of chemical synaptic transmission (GO:0050804), nervous system development (GO:0007399), cell differentiation (GO:0030154)

GO Molecular Function (3): actin filament binding (GO:0051015), actin binding (GO:0003779), protein binding (GO:0005515)

GO Cellular Component (11): cytoplasm (GO:0005737), postsynaptic density (GO:0014069), actin cytoskeleton (GO:0015629), filopodium (GO:0030175), dendrite (GO:0030425), cortical actin cytoskeleton (GO:0030864), dendritic spine (GO:0043197), cytoskeleton (GO:0005856), neuron projection (GO:0043005), synapse (GO:0045202), plasma membrane bounded cell projection (GO:0120025)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
actin cytoskeleton organization	1
supramolecular fiber organization	1
intracellular signaling cassette	1
neuron development	1
plasma membrane bounded cell projection organization	1
chemical synaptic transmission	1
regulation of trans-synaptic signaling	1
system development	1
cellular developmental process	1
actin binding	1
protein-containing complex binding	1
cytoskeletal protein binding	1
binding	1
intracellular anatomical structure	1
cellular anatomical structure	1
asymmetric synapse	1
postsynaptic specialization	1
cytoskeleton	1
actin-based cell projection	1
neuron projection	1
dendritic tree	1
actin cytoskeleton	1
cortical cytoskeleton	1
dendrite	1
neuron spine	1
postsynapse	1
intracellular membraneless organelle	1
plasma membrane bounded cell projection	1
cell junction	1
cell projection	1
plasma membrane region	1

Protein interactions and networks

STRING

1458 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
PPP1R9A	NEXN	Q0ZGT2	781
PPP1R9A	RPS6KB2	Q9UBS0	748
PPP1R9A	NDN	Q99608	621
PPP1R9A	SGCE	O43556	616
PPP1R9A	ASB4	Q9Y574	599
PPP1R9A	PPP1CB	P37140	572
PPP1R9A	PPP1CC	P36873	564
PPP1R9A	PEG10	Q86TG7	560
PPP1R9A	CASD1	Q96PB1	539
PPP1R9A	RPS6KB1	P23443	470
PPP1R9A	PLAGL1	Q9UM63	452
PPP1R9A	GRB10	Q13322	452
PPP1R9A	COPG2	Q9UBF2	449
PPP1R9A	NAP1L5	Q96NT1	435
PPP1R9A	PHLDA2	Q53GA4	429

IntAct

129 interactions, top by confidence:

A	B	Type	Score
RASSF2	STK4	psi-mi:“MI:0914”(association)	0.930
PPP1CC	CCDC85C	psi-mi:“MI:0914”(association)	0.740
RASSF2	YWHAG	psi-mi:“MI:0914”(association)	0.730
CGN	YWHAQ	psi-mi:“MI:0914”(association)	0.710
CFTR	ESYT2	psi-mi:“MI:2364”(proximity)	0.710
CGN	YWHAE	psi-mi:“MI:0914”(association)	0.710
PPP1CA	CCDC85C	psi-mi:“MI:0914”(association)	0.670
NFKBIA	POLRMT	psi-mi:“MI:0914”(association)	0.670
CAPZB	CNOT1	psi-mi:“MI:0914”(association)	0.640
CAPZA2	CNOT1	psi-mi:“MI:0914”(association)	0.640
RGS2	PPP1R9A	psi-mi:“MI:0915”(physical association)	0.540
RGS2	PPP1R9A	psi-mi:“MI:0407”(direct interaction)	0.540
PPP1R9A	RGS2	psi-mi:“MI:0915”(physical association)	0.540
RCN1	WDR45B	psi-mi:“MI:0914”(association)	0.530
DCLK1	DCX	psi-mi:“MI:0914”(association)	0.530
MRPL2	GTPBP10	psi-mi:“MI:0914”(association)	0.530
KCTD17	CBX4	psi-mi:“MI:0914”(association)	0.530
CASQ2	PES1	psi-mi:“MI:0914”(association)	0.530
MYO6	POTEI	psi-mi:“MI:0914”(association)	0.530
KXD1	HIP1	psi-mi:“MI:0914”(association)	0.530
ABCC4	PPP1R9A	psi-mi:“MI:0407”(direct interaction)	0.440
ARHGEF16	PPP1R9A	psi-mi:“MI:0407”(direct interaction)	0.440

BioGRID (178): PPP1R9A (Affinity Capture-MS), PPP1R9A (Affinity Capture-MS), PPP1R9A (Affinity Capture-MS), PPP1R9A (Affinity Capture-MS), PPP1R9A (Affinity Capture-MS), PPP1R9A (Affinity Capture-MS), PPP1R9A (Affinity Capture-MS), PPP1R9A (Affinity Capture-MS), PPP1R9A (Affinity Capture-MS), PPP1R9A (Affinity Capture-MS), PPP1R9A (Affinity Capture-MS), PPP1R9A (Affinity Capture-MS), PPP1R9A (Affinity Capture-MS), PPP1R9A (Affinity Capture-MS), PPP1R9A (Affinity Capture-MS)

ESM2 similar proteins: A0M8S4, A0M8T5, A1X157, B9EJA2, O35867, P0C6C1, P39880, P53564, P53565, Q00PJ1, Q02225, Q07DV1, Q07DW4, Q07DX4, Q07DY4, Q07DZ5, Q07E15, Q07E28, Q07E41, Q09YG9, Q09YI1, Q09YJ3, Q09YK4, Q09YM8, Q108T9, Q13625, Q2IBA2, Q2IBB2, Q2IBD4, Q2IBE6, Q2IBF7, Q2IBF8, Q2QL82, Q2QLA2, Q2QLB3, Q2QLF8, Q2QLG9, Q53HC0, Q5RDH2, Q5T1M5

Diamond homologs: A0A140LI67, A5PKA5, A7UA95, E1JIT7, O14910, O15018, O19132, O35274, O35867, O35889, O62666, O62674, O62675, O62676, O62677, O62678, O88951, O88952, P11434, P29475, P29476, P31016, P51140, P55196, P57105, P78352, Q07436, Q0P5F3, Q12923, Q14005, Q29498, Q2KIB6, Q32LM6, Q3T0C9, Q3UHD6, Q4KL35, Q5F425, Q5RAA5, Q62108, Q64512

SIGNOR signaling

2 interactions.

A	Effect	B	Mechanism
PPP1R9A	“up-regulates activity”	ARHGEF2	binding
PPP1R9A	up-regulates	F-actin_assembly

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 144 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
protein localization to nucleus	5	13.3×	6e-03
actin filament organization	9	8.1×	2e-03
endocytosis	9	6.5×	5e-03

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	151
Likely benign	14
Benign	11

Top pathogenic / likely-pathogenic (0)

SpliceAI

5571 predictions. Top by Δscore:

Variant	Effect	Δscore
7:94920468:G:GT	donor_gain	1.0000
7:94920469:A:T	donor_gain	1.0000
7:94931170:G:GT	donor_gain	1.0000
7:95089079:G:GG	donor_gain	1.0000
7:95111257:AGG:A	acceptor_loss	1.0000
7:95111258:G:A	acceptor_loss	1.0000
7:95111329:C:G	donor_gain	1.0000
7:95111387:GAAAG:G	donor_gain	1.0000
7:95111388:AAAG:A	donor_loss	1.0000
7:95111389:AAG:A	donor_loss	1.0000
7:95111390:AG:A	donor_loss	1.0000
7:95111391:GG:G	donor_loss	1.0000
7:95111392:G:C	donor_loss	1.0000
7:95111392:GTTC:G	donor_gain	1.0000
7:95111396:G:GG	donor_gain	1.0000
7:95120707:A:AG	acceptor_gain	1.0000
7:95120709:TAG:T	acceptor_loss	1.0000
7:95120710:A:AC	acceptor_loss	1.0000
7:95120710:A:AG	acceptor_gain	1.0000
7:95120711:G:GG	acceptor_gain	1.0000
7:95120711:G:T	acceptor_loss	1.0000
7:95120711:GAT:G	acceptor_gain	1.0000
7:95120711:GATGA:G	acceptor_gain	1.0000
7:95161864:A:G	acceptor_gain	1.0000
7:95161865:A:G	acceptor_gain	1.0000
7:95161866:G:GA	acceptor_gain	1.0000
7:95161866:GA:G	acceptor_gain	1.0000
7:95161968:TCAG:T	donor_loss	1.0000
7:95161969:CAG:C	donor_loss	1.0000
7:95161971:GGTA:G	donor_loss	1.0000

AlphaMissense

9125 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
7:94910172:G:C	R20T	1.000
7:94910172:G:T	R20M	1.000
7:94910173:G:C	R20S	1.000
7:94910173:G:T	R20S	1.000
7:94910301:T:A	V63D	1.000
7:94910310:T:A	I66N	1.000
7:94910310:T:C	I66T	1.000
7:94910310:T:G	I66S	1.000
7:94910313:A:T	K67I	1.000
7:94910314:A:C	K67N	1.000
7:94910314:A:T	K67N	1.000
7:94910319:T:C	L69P	1.000
7:94910322:T:C	F70S	1.000
7:95111286:T:C	Y475H	1.000
7:95111300:T:A	N479K	1.000
7:95111300:T:G	N479K	1.000
7:95111322:G:C	A487P	1.000
7:95111328:G:C	A489P	1.000
7:95111329:C:A	A489D	1.000
7:95111337:G:A	E492K	1.000
7:95111341:T:A	L493H	1.000
7:95111341:T:C	L493P	1.000
7:95111350:G:C	R496P	1.000
7:95111362:T:C	L500P	1.000
7:95111383:T:C	L507P	1.000
7:95120726:G:C	G515R	1.000
7:95120730:T:A	I516K	1.000
7:95120730:T:G	I516R	1.000
7:95120732:A:C	S517R	1.000
7:95120734:T:A	S517R	1.000

dbSNP variants (sampled 300 via entrez): RS1000002604 (7:95115134 A>G), RS1000018622 (7:95078792 C>G), RS1000018837 (7:95208799 CT>C), RS1000019193 (7:95148801 T>C), RS1000020099 (7:95028709 T>A,C), RS1000031898 (7:94939985 T>C), RS1000032654 (7:94932787 T>A,C), RS1000038102 (7:95274396 C>A,T), RS1000069818 (7:95165206 T>A), RS1000073544 (7:95013475 GCAAA>G), RS1000074749 (7:95158722 T>C), RS1000074881 (7:94922159 A>C,G), RS1000082603 (7:95229818 T>G), RS1000086330 (7:95062587 C>T), RS1000091870 (7:95295264 G>A,T)

Disease associations

OMIM: gene MIM:602468 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

3 associations (top):

Study	Trait	p-value
GCST003081_6	Glucocorticoid-induced osteonecrosis (age 10 years and older)	3.000000e-06
GCST008151_15	Waist circumference	6.000000e-06
GCST008160_60	Waist circumference	6.000000e-06

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

PharmGKB variants

3 variants.

Variant	Genes	Level	Score	#Clin annots	Drugs
rs854547	PON1, PPP1R9A	3	0.00	1	Tumor necrosis factor alpha (TNF-alpha) inhibitors
rs854548	PON1, PPP1R9A	3	0.00	1	Tumor necrosis factor alpha (TNF-alpha) inhibitors
rs854555	PON1, PPP1R9A	3	2.25	1	Tumor necrosis factor alpha (TNF-alpha) inhibitors

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	decreases expression, affects expression, decreases methylation, affects cotreatment, increases expression	9
Benzo(a)pyrene	decreases expression, increases methylation, affects expression, affects methylation	6
trichostatin A	affects cotreatment, decreases expression	3
sodium arsenite	affects methylation, increases expression	2
entinostat	decreases expression, affects cotreatment	2
Panobinostat	affects cotreatment, decreases expression	2
Nickel	decreases expression	2
Phenylmercuric Acetate	affects cotreatment, decreases expression	2
Tobacco Smoke Pollution	decreases expression	2
aristolochic acid I	decreases expression	1
testosterone enanthate	affects expression	1
methylmercuric chloride	decreases expression	1
alpha-pinene	increases expression, increases abundance, affects cotreatment	1
beta-lapachone	decreases expression	1
cobaltous chloride	decreases expression	1
butyraldehyde	decreases expression	1
benzo(e)pyrene	increases methylation	1
potassium chromate(VI)	increases expression	1
aflatoxin B2	increases methylation	1
coumarin	decreases phosphorylation	1
methacrylaldehyde	affects cotreatment, increases expression, increases abundance	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, decreases expression	1
quinocetone	increases expression	1
dorsomorphin	affects cotreatment, decreases expression	1
jinfukang	affects cotreatment, decreases expression	1
phenyl acetate	affects hydrolysis	1
Temozolomide	increases expression	1
Arsenic Trioxide	decreases expression	1
Acetylglucosamine	decreases expression	1
Acrolein	affects cotreatment, increases expression, increases abundance	1

Cellosaurus cell lines

2 cell lines: 2 cancer cell line

First 10 cell lines (id-ordered, not curated):

Cellosaurus	Name	Category	Sex
CVCL_TF86	HAP1 PPP1R9A (-) 1	Cancer cell line	Male
CVCL_TF87	HAP1 PPP1R9A (-) 2	Cancer cell line	Male

Clinical trials (associated diseases)

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