PPP1R1B

Summary

PPP1R1B (protein phosphatase 1 regulatory inhibitor subunit 1B, HGNC:9287) is a protein-coding gene on chromosome 17q12, encoding Protein phosphatase 1 regulatory subunit 1B (Q9UD71). Inhibitor of protein-phosphatase 1.

This gene encodes a bifunctional signal transduction molecule. Dopaminergic and glutamatergic receptor stimulation regulates its phosphorylation and function as a kinase or phosphatase inhibitor. As a target for dopamine, this gene may serve as a therapeutic target for neurologic and psychiatric disorders. Multiple transcript variants encoding different isoforms have been found for this gene.

Source: NCBI Gene 84152 — RefSeq curated summary.

At a glance

• GWAS associations: 10
• Clinical variants (ClinVar): 27 total
• Druggable target: yes
• MANE Select transcript: NM_032192

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:9287
Approved symbol	PPP1R1B
Name	protein phosphatase 1 regulatory inhibitor subunit 1B
Location	17q12
Locus type	gene with protein product
Status	Approved
Aliases	DARPP-32, FLJ20940
Ensembl gene	ENSG00000131771
Ensembl biotype	protein_coding
OMIM	604399
Entrez	84152

Gene structure

Transcript identifiers

Ensembl transcripts: 12 — 8 protein_coding, 4 retained_intron

ENST00000254079, ENST00000394265, ENST00000394267, ENST00000492037, ENST00000579000, ENST00000580029, ENST00000580772, ENST00000580825, ENST00000582680, ENST00000583446, ENST00000891107, ENST00000966853

RefSeq mRNA: 3 — MANE Select: NM_032192 NM_001242464, NM_032192, NM_181505

CCDS: CCDS11339, CCDS11340

Canonical transcript exons

ENST00000254079 — 7 exons

Exon	Start	End
ENSE00002305674	39626952	39627473
ENSE00003494370	39629972	39630047
ENSE00003533322	39629540	39629562
ENSE00003562709	39633883	39634086
ENSE00003653903	39629170	39629230
ENSE00003691775	39635607	39635726
ENSE00003848565	39635816	39636624

Expression profiles

Bgee: expression breadth ubiquitous, 211 present calls, max score 99.83.

FANTOM5 (CAGE): breadth broad, TPM avg 20.3209 / max 1859.6890, expressed in 440 samples.

FANTOM5 promoters (11 alternative TSS)

Promoter ID	TPM avg	Samples expressed
160579	11.8019	337
160580	3.1324	291
160577	2.0854	260
160582	1.4209	188
160578	0.4845	126
160574	0.4271	133
160576	0.4177	147
160575	0.2240	126
160583	0.1169	52
160581	0.1056	59

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
putamen	UBERON:0001874	99.83	gold quality
caudate nucleus	UBERON:0001873	99.81	gold quality
nucleus accumbens	UBERON:0001882	99.70	gold quality
lateral globus pallidus	UBERON:0002476	99.12	gold quality
ileal mucosa	UBERON:0000331	99.01	gold quality
mucosa of transverse colon	UBERON:0004991	98.75	gold quality
rectum	UBERON:0001052	98.74	gold quality
right frontal lobe	UBERON:0002810	98.58	gold quality
amygdala	UBERON:0001876	98.48	gold quality
Brodmann (1909) area 9	UBERON:0013540	98.31	gold quality
anterior cingulate cortex	UBERON:0009835	98.25	gold quality
colonic epithelium	UBERON:0000397	97.45	gold quality
prefrontal cortex	UBERON:0000451	97.25	gold quality
parotid gland	UBERON:0001831	97.06	gold quality
right hemisphere of cerebellum	UBERON:0014890	96.85	gold quality
frontal cortex	UBERON:0001870	96.65	gold quality
frontal lobe	UBERON:0016525	96.65	gold quality
telencephalon	UBERON:0001893	96.42	gold quality
substantia nigra	UBERON:0002038	96.40	gold quality
neocortex	UBERON:0001950	96.35	gold quality
cortical plate	UBERON:0005343	96.23	gold quality
hypothalamus	UBERON:0001898	96.13	gold quality
dorsolateral prefrontal cortex	UBERON:0009834	95.97	gold quality
body of pancreas	UBERON:0001150	95.94	gold quality
temporal lobe	UBERON:0001871	95.89	gold quality
cerebellar cortex	UBERON:0002129	95.89	gold quality
cerebellar hemisphere	UBERON:0002245	95.86	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	95.83	gold quality
colonic mucosa	UBERON:0000317	95.54	gold quality
transverse colon	UBERON:0001157	95.54	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-GEOD-125970	yes	388.77
E-MTAB-8410	yes	46.26
E-MTAB-7008	yes	34.84
E-HCAD-10	yes	28.57
E-GEOD-84465	yes	13.73
E-ANND-3	no	0.00

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): EGR1, HOXB7, RARB

miRNA regulators (miRDB)

56 targeting PPP1R1B, 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-4481	100.00	66.42	1669
HSA-MIR-4692	100.00	67.32	2066
HSA-MIR-4514	99.99	67.10	1870
HSA-MIR-520D-5P	99.98	73.34	4883
HSA-MIR-524-5P	99.98	73.43	4882
HSA-MIR-4650-5P	99.98	64.69	999
HSA-MIR-4745-5P	99.98	65.95	1028
HSA-MIR-3617-3P	99.98	67.86	918
HSA-MIR-6793-5P	99.97	65.95	758
HSA-MIR-4725-3P	99.96	69.53	2520
HSA-MIR-6780B-5P	99.96	69.60	2562
HSA-MIR-6783-3P	99.89	67.92	2059
HSA-MIR-1343-3P	99.89	66.78	1815
HSA-MIR-4271	99.88	68.32	2244
HSA-MIR-221-5P	99.86	65.45	1052
HSA-MIR-8073	99.86	65.21	1118
HSA-MIR-765	99.84	68.24	2442
HSA-MIR-6756-5P	99.82	67.97	2466
HSA-MIR-11181-3P	99.75	66.38	2205
HSA-MIR-4699-3P	99.71	70.15	3142
HSA-MIR-6766-5P	99.68	67.70	2325
HSA-MIR-6715B-5P	99.64	69.63	1420
HSA-MIR-3975	99.62	65.97	697
HSA-MIR-4269	99.55	69.89	1373
HSA-MIR-1207-5P	99.49	69.11	2983
HSA-MIR-6740-3P	99.48	68.49	1392
HSA-MIR-6839-3P	99.39	68.86	1301
HSA-MIR-10399-5P	99.17	69.87	2610
HSA-MIR-6504-3P	99.17	69.31	2891
HSA-MIR-4254	99.11	65.15	1315

Literature-anchored findings (GeneRIF, showing 40)

• DARPP 32 frequently are overexpressed in common subtypes of human adenocarcinomas suggest that these proteins may be important in tumorigenesis. (PMID:14508844)
• overexpression of DARPP-32 is associated with gastric cancer (PMID:14991576)
• Oncogenomic recombination hotspot around the PPP1R1B-STARD3-TCAP-PNMT-PERLD1-ERBB2-C17orf37-GRB7 amplicon at human chromosome 17q12 is closely linked to evolutionary recombination hotspot around the GSDML-GSDM locus. (PMID:15010812)
• DARPP-32 expression arises after a phase of dysplasia esophageal squamous cell carcinoma; tumours expressing DARPP-32 progress less rapidly than DARPP-32-negative tumours (PMID:15188007)
• multiple domains in I-1 target cellular PP1 complexes, and I-1 has a role as a cellular regulator of eIF2alpha phosphorylation (PMID:15345721)
• Expression of Darpp-32 is associated with a potent antiapoptotic advantage for cancer cells through a p53-independent mechanism that involves preservation of mitochondrial potential and increased Bcl2 levels. (PMID:16061638)
• Thus, DARPP-32 signaling downstream of DDR1 is a potential new target for effective anti-metastatic breast cancer therapy (PMID:17027969)
• Potential involvement of PPP1R1B in the etiology of nicotine dependence. (PMID:17171661)
• DARPP-32 plays a pivotal role in cognitive function and possibly in the pathogenesis of schizophrenia. (PMID:17290303)
• The up-regulation of ZNRD1 significantly inhibited the drug sensitivity of gastric cancer cells over-expressing DARPP-32, indicating that ZNRD1 may be important in the DARPP-32-mediated MDR of gastric cancer (PMID:17492506)
• The present study suggests that DARPP-32 decreases in the DLPFC of patients with schizophrenia and bipolar disorder. (PMID:17521792)
• The results of this study do not preclude the possibility that the PPP1R1B is a susceptibility gene for schizophrenia in the Chinese population. (PMID:17618027)
• The decreased expression of DARPP-32 in oral premalignant and malignant lesions suggests a tumor suppressor role for this protein in the tumorigenesis of these lesions. (PMID:17695523)
• we tested the DARPP-32 gene, PPP1R1B, for association with ADHD using four polymorphic markers selected across the gene in a sample of 255 ADHD families and data do not support a contribution of it to ADHD (PMID:17948899)
• Our findings suggest that PPP1R1B SNPs are unlikely to be related to the development of schizophrenia and bipolar disorder in the Japanese population. (PMID:18055181)
• DARPP-32 mediates multidrug resistance of gastric cancer through regulation of P-gp and ZNRD1. (PMID:18058465)
• t-Darpp promotes cancer cell survival by up-regulation of Bcl2 through Akt-dependent mechanism. (PMID:18199533)
• Data show that the expression of DARPP-32 increases with age in the prefrontal cortex of postmortem brain samples. (PMID:18470533)
• We found a significant difference in gene expression levels between SCZ patients who died by suicide (SCZ-S) (n=6) vs. other causes of death (SCZ-NS) (P<0.004), as well as between SCZ-S and UC (P<0.04). (PMID:18573638)
• t-DARPP is a novel molecular target that can mediate the therapeutic resistance to trastuzumab in breast cancer cells. (PMID:18579663)
• DARPP32 may be involved in the formation of glial cytoplasmic inclusions in the oligodendrocytes of brains with multiple system atrophy (PMID:18808062)
• upon phosphorylation of Thr(34) in DARPP-32, which turns DARPP-32 into a potent inhibitor of PP1, neither local nor long-range structure of DARPP-32 is altered (PMID:18954090)
• DARPP-32 expression in leukocytes could be used as a source of bio-markers to help in the treatment response of neuropsychiatry (PMID:19059449)
• t-Darpp and DARPP-32 expression are novel prognostic and predictive biomarkers in breast cancer. (PMID:19301121)
• in a sample of n=838 healthy German Caucasian subjects we found a significant association between rs907094 and ANGER (PMID:19463699)
• Phospho-DARPP-32 potentiates Wnt-5a-mediated CREB activity and suppresses filopodia formation. (PMID:19651774)
• heroin significantly upregulated both D1R and DARPP-32 gene expression (PMID:19897079)
• DARPP-32 changes the usage of tra2-beta1 dependent alternative exons in a concentration-dependent manner, suggesting that the DARPP-32:tra2-beta1 interaction is a molecular link between signaling pathways and pre-mRNA processing. (PMID:20074680)
• This study did not find DAOA significant associations with schizophrenia. Thus, PPP1R1B genes do not fit the antagonistic pleiotropy (PMID:20483474)
• The composite expression score, calculated from immunostaining patterns, increased significantly from normal or gastritis to metaplasia, dysplasia, and adenocarcinoma (P < .001). (PMID:20580047)
• [review] Genetic polymorphisms modulating DARPP-32 mRNA expression and cognition in humans are associated with changes in activation in the entire striatum, and striatal connectivity with frontal cortex, without connection to any other brain region. (PMID:20631684)
• Findings underscore the potential role of t-DARPP in regulating cell growth and proliferation through PI3 kinase-dependent mechanism. (PMID:20836878)
• our data suggest: (i) C14ORF28, GNB2L1, MLLT3, DRD2 and DARPP-32 are important in the pathogenesis of schizophrenia and bipolar disorder (PMID:20874815)
• Results suggest that polymorphisms in the DARPP-32 gene are involved in the biological mechanisms that confer the traits of novelty seeking and harm avoidance. (PMID:21369787)
• Findings demonstrate that t-DARPP regulates beta-catenin/TCF activity, thereby implicating a novel oncogenic signaling in upper gastrointestinal cancers. (PMID:21447180)
• the DARPP-32-related pathogenesis in schizophrenia may be more severe in the superior temporal gyrus than previously found in the prefrontal cortex (PMID:21453742)
• DARPP-32 increases interactions between epidermal growth factor receptor and ERBB3 to promote tumor resistance to gefitinib. (PMID:21741919)
• density of DARPP-32-immunoreactive (IR) neurons in the II and III layers of the RAIC was significantly decreased (p<0.05) in the schizophrenia group compared with the healthy control group. (PMID:21821092)
• the decrease in DARPP-32 in schizophrenia was more marked in neurons of dorsolateral prefrontal cortex than in other cells or other brain regions (PMID:22179181)
• Our findings support a role for the DRD2 and PPP1R1B genes in conferring risk for autism in families with only affected males and show an additive effect of these genes towards prediction of affected status in our families. (PMID:22559203)

Cross-species orthologs

2 orthologs

Organism	Symbol	Gene ID
danio_rerio	ppp1r1b	ENSDARG00000076280
mus_musculus	Ppp1r1b	ENSMUSG00000061718

Paralogs (2): PPP1R1A (ENSG00000135447), PPP1R1C (ENSG00000150722)

Protein

Protein identifiers

Protein phosphatase 1 regulatory subunit 1B — Q9UD71 (reviewed: Q9UD71)

Alternative names: DARPP-32, Dopamine- and cAMP-regulated neuronal phosphoprotein

All UniProt accessions (4): B3KVQ9, Q9UD71, J3KSJ8, J3KT77

UniProt curated annotations — full annotation on UniProt →

Function. Inhibitor of protein-phosphatase 1.

Subcellular location. Cytoplasm.

Post-translational modifications. Dopamine- and cyclic AMP-regulated neuronal phosphoprotein. Phosphorylation of Thr-34 is required for activity.

Similarity. Belongs to the protein phosphatase inhibitor 1 family.

Isoforms (2)

UniProt ID	Names	Canonical?
Q9UD71-1	1	yes
Q9UD71-2	2, t-DARPP

RefSeq proteins (3): NP_001229393, NP_115568, NP_852606 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR008466	PPP1R1A/B/C	Family

Pfam: PF05395

UniProt features (18 total): modified residue 8, compositionally biased region 5, sequence conflict 2, chain 1, region of interest 1, splice variant 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9UD71-F1	65.59	0.17

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 (8): 46, 75, 102, 137, 198, 1, 34, 45

Function

Pathways and Gene Ontology

Reactome pathways

1 pathways

ID	Pathway
R-HSA-180024	DARPP-32 events

MSigDB gene sets: 166 (showing top): GOBP_RESPONSE_TO_NITROGEN_COMPOUND, GOBP_COGNITION, GOBP_BEHAVIOR, GOBP_RESPONSE_TO_COCAINE, GOBP_RESPONSE_TO_AMINE, BERTUCCI_MEDULLARY_VS_DUCTAL_BREAST_CANCER_DN, GOBP_ADULT_BEHAVIOR, GOBP_ASSOCIATIVE_LEARNING, JOHANSSON_GLIOMAGENESIS_BY_PDGFB_DN, LHX3_01, CHX10_01, GOBP_CELLULAR_RESPONSE_TO_OXYGEN_CONTAINING_COMPOUND, GOBP_RESPONSE_TO_ALKALOID, BRN2_01, GOBP_RESPONSE_TO_AMPHETAMINE

GO Biological Process (10): response to amphetamine (GO:0001975), DNA-templated transcription (GO:0006351), signal transduction (GO:0007165), negative regulation of female receptivity (GO:0007621), locomotory behavior (GO:0007626), visual learning (GO:0008542), intracellular signal transduction (GO:0035556), response to morphine (GO:0043278), behavioral response to cocaine (GO:0048148), cellular response to cocaine (GO:0071314)

GO Molecular Function (5): protein kinase inhibitor activity (GO:0004860), cAMP-dependent protein kinase inhibitor activity (GO:0004862), protein phosphatase inhibitor activity (GO:0004864), protein phosphatase regulator activity (GO:0019888), protein binding (GO:0005515)

GO Cellular Component (4): nucleus (GO:0005634), cytoplasm (GO:0005737), cytosol (GO:0005829), neuronal cell body (GO:0043025)

Reactome top-level categories

Rollup of top-1 pathways:

Category	Pathways
Opioid Signalling	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
intracellular anatomical structure	2
response to cocaine	2
phosphoprotein phosphatase activity	2
cellular anatomical structure	2
response to amine	1
gene expression	1
RNA biosynthetic process	1
cell communication	1
cellular process	1
signaling	1
regulation of cellular process	1
cellular response to stimulus	1
regulation of female receptivity	1
behavior	1
visual behavior	1
associative learning	1
signal transduction	1
response to isoquinoline alkaloid	1
adult behavior	1
cellular response to alkaloid	1
cellular response to oxygen-containing compound	1
protein kinase activity	1
kinase inhibitor activity	1
protein kinase regulator activity	1
cAMP-dependent protein kinase activity	1
cAMP-dependent protein kinase regulator activity	1
protein serine/threonine kinase inhibitor activity	1
phosphatase inhibitor activity	1
protein phosphatase regulator activity	1
phosphatase regulator activity	1
protein phosphatase binding	1
binding	1
intracellular membrane-bounded organelle	1
cytoplasm	1
somatodendritic compartment	1
cell body	1

Protein interactions and networks

STRING

1604 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
PPP1R1B	ARPP21	Q9UBL0	833
PPP1R1B	DRD1	P21728	822
PPP1R1B	ARPP19	P56211	799
PPP1R1B	CDK5	Q00535	766
PPP1R1B	DRD2	P14416	740
PPP1R1B	PDYN	P01213	723
PPP1R1B	PDE1B	Q01064	721
PPP1R1B	HTT	P42858	694
PPP1R1B	ADORA2A	P29274	691
PPP1R1B	GRIN2A	Q12879	685
PPP1R1B	PPP1R9B	Q96SB3	678
PPP1R1B	TH	P07101	669
PPP1R1B	PRKACA	P17612	646
PPP1R1B	PRKACG	P22612	645
PPP1R1B	PRKACB	P22694	643

IntAct

9 interactions, top by confidence:

A	B	Type	Score
TFCP2	PPP1R1B	psi-mi:“MI:0915”(physical association)	0.560
PPP1R1B	KLHL6	psi-mi:“MI:0915”(physical association)	0.560
PPP1R1B	TFCP2	psi-mi:“MI:0915”(physical association)	0.560
KLHL6	PPP1R1B	psi-mi:“MI:0915”(physical association)	0.560
PPP1R1B	DLGAP4	psi-mi:“MI:0915”(physical association)	0.000
PPP1R1B	ROBO2	psi-mi:“MI:0915”(physical association)	0.000

BioGRID (7): PPP1R1B (Two-hybrid), KLHL6 (Two-hybrid), ACTBL2 (Affinity Capture-MS), DLGAP4 (Two-hybrid), PPP1R1B (Biochemical Activity), PPP1R1B (Affinity Capture-MS), PPP1R1B (Affinity Capture-MS)

ESM2 similar proteins: A1YEW9, A2D4U8, A2D5N1, A2D671, A2T6K9, A8T6P4, B8AE37, F6QRE9, G3V9A7, O60238, P48785, P79149, Q0IIJ3, Q0P6D6, Q15170, Q15361, Q15390, Q2KIJ9, Q3T013, Q3ULM0, Q3ZBJ9, Q4V7L5, Q5BJU7, Q5H9J7, Q5NVG8, Q5PPP3, Q5PR69, Q5RFN3, Q5W0A0, Q66HD8, Q67XL4, Q6K678, Q86X53, Q8BP27, Q8BPM6, Q8C627, Q8R5H6, Q91W45, Q921P9, Q92558

Diamond homologs: P01099, P07516, P19103, Q13522, Q29277, Q5R853, Q60829, Q6J4I0, Q8BKK4, Q8WMS3, Q8WVI7, Q9ERT9, Q9UD71

SIGNOR signaling

14 interactions.

A	Effect	B	Mechanism
PKA	“up-regulates activity”	PPP1R1B	phosphorylation
PPP1R1B	“down-regulates activity”	PPP1CA	binding
PPP1R1B	“down-regulates activity”	PPP1CC	binding
PPP1R1B	“down-regulates activity”	PPP1CB	binding
PPP1R1B	“down-regulates activity”	PKA	binding
PPP1R1B	“down-regulates activity”	PP1	binding
RPS6KB1	“up-regulates activity”	PPP1R1B	phosphorylation
CSNK1E	“up-regulates activity”	PPP1R1B	phosphorylation
CDK5	“up-regulates activity”	PPP1R1B	phosphorylation
PRKACA	“up-regulates activity”	PPP1R1B	phosphorylation
CSNK2A1	“up-regulates activity”	PPP1R1B	phosphorylation
CSNK2A2	“up-regulates activity”	PPP1R1B	phosphorylation

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	16
Likely benign	0
Benign	2

Top pathogenic / likely-pathogenic (0)

SpliceAI

1013 predictions. Top by Δscore:

Variant	Effect	Δscore
17:39627470:GATG:G	donor_gain	1.0000
17:39627473:GGTA:G	donor_loss	1.0000
17:39627474:G:C	donor_loss	1.0000
17:39627475:T:G	donor_loss	1.0000
17:39629168:A:AG	acceptor_gain	1.0000
17:39629169:G:GG	acceptor_gain	1.0000
17:39629227:CCAGG:C	donor_loss	1.0000
17:39629228:CAGG:C	donor_loss	1.0000
17:39629231:GT:G	donor_loss	1.0000
17:39629232:T:G	donor_loss	1.0000
17:39629499:C:A	acceptor_gain	1.0000
17:39629503:T:TA	acceptor_gain	1.0000
17:39629970:A:AG	acceptor_gain	1.0000
17:39629971:G:GG	acceptor_gain	1.0000
17:39629971:GA:G	acceptor_gain	1.0000
17:39633875:T:TA	acceptor_gain	1.0000
17:39634082:GTCTG:G	donor_gain	1.0000
17:39634087:G:GG	donor_gain	1.0000
17:39634088:T:G	donor_loss	1.0000
17:39635600:T:G	acceptor_gain	1.0000
17:39635603:CCAG:C	acceptor_loss	1.0000
17:39635605:A:AG	acceptor_gain	1.0000
17:39635605:AGCT:A	acceptor_gain	1.0000
17:39635605:AGCTG:A	acceptor_gain	1.0000
17:39635606:G:GT	acceptor_gain	1.0000
17:39635606:GC:G	acceptor_gain	1.0000
17:39635606:GCT:G	acceptor_gain	1.0000
17:39635606:GCTG:G	acceptor_gain	1.0000
17:39635606:GCTGG:G	acceptor_gain	1.0000
17:39635724:GTG:G	donor_gain	1.0000

AlphaMissense

1323 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
17:39627418:T:C	I9T	1.000
17:39627418:T:G	I9S	1.000
17:39627423:T:C	F11L	1.000
17:39627424:T:C	F11S	1.000
17:39627424:T:G	F11C	1.000
17:39627425:C:A	F11L	1.000
17:39627425:C:G	F11L	1.000
17:39629171:T:A	I28N	1.000
17:39629171:T:C	I28T	1.000
17:39629180:G:C	R31T	1.000
17:39629180:G:T	R31M	1.000
17:39629181:G:C	R31S	1.000
17:39629181:G:T	R31S	1.000
17:39629183:G:C	R32T	1.000
17:39629184:A:C	R32S	1.000
17:39629184:A:T	R32S	1.000
17:39629185:C:T	P33S	1.000
17:39629195:C:A	A36D	1.000
17:39633898:C:A	A86D	1.000
17:39627418:T:A	I9N	0.999
17:39629171:T:G	I28S	0.999
17:39629173:C:G	R29G	0.999
17:39629176:C:A	R30S	0.999
17:39629179:A:G	R31G	0.999
17:39629182:A:G	R32G	0.999
17:39629185:C:A	P33T	0.999
17:39629186:C:A	P33Q	0.999
17:39629191:C:T	P35S	0.999
17:39629192:C:A	P35H	0.999
17:39629203:T:C	F39L	0.999

dbSNP variants (sampled 300 via entrez): RS1000015269 (17:39628453 G>A,C,T), RS1000053669 (17:39636700 G>A), RS1000359782 (17:39634920 G>A), RS1000377392 (17:39625616 T>G), RS1000749717 (17:39625899 G>A), RS1000806716 (17:39633236 T>G), RS1001310711 (17:39636024 C>A,T), RS1001548453 (17:39632924 C>T), RS1002487758 (17:39634589 C>T), RS1002553182 (17:39626594 T>C,G), RS1003126888 (17:39629834 G>A,T), RS1003558301 (17:39627957 C>T), RS1004039898 (17:39630895 T>A,G), RS1004248232 (17:39628379 T>C), RS1004549630 (17:39626168 A>G)

Disease associations

OMIM: gene MIM:604399 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

10 associations (top):

Study	Trait	p-value
GCST000624_15	Ulcerative colitis	3.000000e-08
GCST007876_140	Estimated glomerular filtration rate	8.000000e-39
GCST008916_10	Asthma	5.000000e-09
GCST008916_21	Asthma	2.000000e-62
GCST008916_45	Asthma	3.000000e-10
GCST008916_86	Asthma	2.000000e-14
GCST009798_16	Asthma	8.000000e-27
GCST010002_123	Refractive error	1.000000e-24
GCST90002383_68	Hematocrit	1.000000e-19
GCST90002384_412	Hemoglobin	9.000000e-19

EFO canonical traits (2, from GWAS)

EFO ID	Trait name
EFO:0004348	hematocrit
EFO:0004509	hemoglobin measurement

Drugs & pharmacology

Drug and pharmacology data

Is drug target: yes

ChEMBL targets (1): CHEMBL6067450 (SINGLE PROTEIN)

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Air Pollutants	decreases expression, increases abundance, increases expression	3
entinostat	increases expression, affects cotreatment	2
Nickel	decreases expression	2
Particulate Matter	decreases expression, increases abundance, increases expression	2
bisphenol F	increases expression	1
bisphenol A	increases expression	1
sodium arsenite	decreases expression	1
aflatoxin B2	increases methylation	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, increases expression	1
bisphenol B	increases expression	1
dorsomorphin	affects cotreatment, increases expression	1
3-hydroxy-4-prenyl-5-methoxystilbene-2-carboxylic acid	decreases expression	1
(+)-JQ1 compound	decreases expression	1
bisphenol AF	increases expression	1
Sunitinib	decreases expression	1
Zoledronic Acid	decreases expression	1
Benzo(a)pyrene	decreases methylation, increases methylation	1
Butyrates	decreases response to substance	1
Camptothecin	decreases response to substance	1
Ceramides	decreases response to substance	1
Cisplatin	increases response to substance	1
Diethylhexyl Phthalate	decreases expression	1
Doxorubicin	increases response to substance, decreases export	1
Estradiol	increases expression	1
Fluorouracil	increases response to substance	1
Morphine	decreases reaction, increases phosphorylation	1
Rotenone	decreases expression	1
Tobacco Smoke Pollution	decreases expression	1
Triclosan	decreases expression	1
Vincristine	increases response to substance	1

ChEMBL screening assays

1 unique, capped per target: 1 binding

Representative assays (with source publication via chembl_document):

Assay ID	Type	Description	Source paper
CHEMBL5652092	Binding	Binding affinity to human PPP1R1B incubated for 45 mins by Kinobead based pull down assay	NVP-BHG712: Effects of Regioisomers on the Affinity and Selectivity toward the EPHrin Family. — ChemMedChem

Clinical trials (associated diseases)

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