PITPNM1

Summary

PITPNM1 (phosphatidylinositol transfer protein membrane associated 1, HGNC:9003) is a protein-coding gene on chromosome 11q13.2, encoding Membrane-associated phosphatidylinositol transfer protein 1 (O00562). Catalyzes the transfer of phosphatidylinositol (PI) between membranes.

PITPNM1 belongs to a family of membrane-associated phosphatidylinositol transfer domain-containing proteins that share homology with the Drosophila retinal degeneration B (rdgB) protein (Ocaka et al., 2005 [PubMed 15627748]).

Source: NCBI Gene 9600 — RefSeq curated summary.

At a glance

• GWAS associations: 1
• Clinical variants (ClinVar): 203 total
• Druggable target: yes
• MANE Select transcript: NM_004910

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:9003
Approved symbol	PITPNM1
Name	phosphatidylinositol transfer protein membrane associated 1
Location	11q13.2
Locus type	gene with protein product
Status	Approved
Aliases	DRES9, NIR2, RDGB1, RDGBA1, Rd9, RDGB
Ensembl gene	ENSG00000110697
Ensembl biotype	protein_coding
OMIM	608794
Entrez	9600

Gene structure

Transcript identifiers

Ensembl transcripts: 24 — 15 protein_coding, 7 retained_intron, 2 protein_coding_CDS_not_defined

ENST00000356404, ENST00000436757, ENST00000524901, ENST00000525521, ENST00000525568, ENST00000526450, ENST00000526602, ENST00000527103, ENST00000527370, ENST00000527527, ENST00000528559, ENST00000529203, ENST00000530381, ENST00000532703, ENST00000533391, ENST00000534749, ENST00000897588, ENST00000897589, ENST00000897590, ENST00000932948, ENST00000932949, ENST00000950487, ENST00000950488, ENST00000950489

RefSeq mRNA: 2 — MANE Select: NM_004910 NM_001130848, NM_004910

CCDS: CCDS31620, CCDS44659

Canonical transcript exons

ENST00000356404 — 24 exons

Exon	Start	End
ENSE00001412284	67505188	67505363
ENSE00003484661	67497917	67498024
ENSE00003499271	67493922	67494070
ENSE00003499855	67493688	67493837
ENSE00003514703	67502504	67502718
ENSE00003515635	67495077	67495225
ENSE00003530834	67495438	67495602
ENSE00003542264	67492934	67493062
ENSE00003562306	67494244	67494360
ENSE00003645912	67497522	67497679
ENSE00003646168	67493410	67493593
ENSE00003654347	67504103	67504221
ENSE00003689697	67494846	67494956
ENSE00003888736	67496178	67496348
ENSE00003889941	67497231	67497436
ENSE00003889966	67499723	67499830
ENSE00003891116	67498133	67498322
ENSE00003891168	67499914	67500009
ENSE00003891653	67502292	67502413
ENSE00003891834	67498940	67499001
ENSE00003891869	67500095	67500421
ENSE00003892424	67498596	67498846
ENSE00003893980	67501862	67502086
ENSE00004282198	67491768	67492296

Expression profiles

Bgee: expression breadth ubiquitous, 216 present calls, max score 97.15.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 9.9743 / max 282.6214, expressed in 1740 samples.

FANTOM5 promoters (3 alternative TSS)

Promoter ID	TPM avg	Samples expressed
120940	8.5213	1728
120938	0.8864	298
120939	0.5666	330

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
granulocyte	CL:0000094	97.15	gold quality
right uterine tube	UBERON:0001302	96.04	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	95.02	gold quality
metanephros cortex	UBERON:0010533	94.94	gold quality
adenohypophysis	UBERON:0002196	94.73	gold quality
right frontal lobe	UBERON:0002810	94.38	gold quality
right hemisphere of cerebellum	UBERON:0014890	94.37	gold quality
monocyte	CL:0000576	94.22	gold quality
lateral nuclear group of thalamus	UBERON:0002736	94.20	gold quality
cingulate cortex	UBERON:0003027	93.63	gold quality
anterior cingulate cortex	UBERON:0009835	93.62	gold quality
mononuclear cell	CL:0000842	93.59	gold quality
leukocyte	CL:0000738	93.52	gold quality
cerebellar hemisphere	UBERON:0002245	93.15	gold quality
paraflocculus	UBERON:0005351	93.14	gold quality
cerebellar cortex	UBERON:0002129	93.10	gold quality
pituitary gland	UBERON:0000007	93.09	gold quality
prefrontal cortex	UBERON:0000451	92.95	gold quality
mucosa of transverse colon	UBERON:0004991	92.82	gold quality
Brodmann (1909) area 10	UBERON:0013541	92.67	gold quality
cerebellum	UBERON:0002037	91.88	gold quality
neocortex	UBERON:0001950	91.16	gold quality
frontal cortex	UBERON:0001870	91.00	gold quality
amygdala	UBERON:0001876	91.00	gold quality
cortical plate	UBERON:0005343	90.95	gold quality
right lobe of thyroid gland	UBERON:0001119	90.79	gold quality
spleen	UBERON:0002106	90.64	gold quality
frontal pole	UBERON:0002795	90.56	gold quality
apex of heart	UBERON:0002098	90.32	gold quality
hypothalamus	UBERON:0001898	90.29	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	5.68

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

12 targeting PITPNM1, 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-4455	100.00	65.48	1587
HSA-MIR-4789-5P	99.98	70.76	2721
HSA-MIR-95-5P	99.89	72.17	3973
HSA-MIR-4447	99.85	67.81	2900
HSA-MIR-9500	98.62	66.54	1845
HSA-MIR-6826-3P	98.19	66.32	1153
HSA-MIR-5681A	97.99	67.17	1658
HSA-MIR-490-5P	96.75	65.81	661
HSA-MIR-592	96.59	67.59	817
HSA-MIR-6762-5P	96.55	64.62	972
HSA-MIR-6845-5P	96.55	64.65	969
HSA-MIR-6796-5P	95.37	66.08	1120

Literature-anchored findings (GeneRIF, showing 11)

• Nir2, a human homolog of Drosophila melanogaster retinal degeneration B protein, is essential for cytokinesis. (PMID:12077336)
• A specific Thr residue in the Nir2 PI-transfer domain provides a regulatory site for targeting to lipid droplets. This may affect intracellular lipid trafficking & distribution & explain the dominant effect of the RdgB-T59E mutant on retinal degeneration. (PMID:12225667)
• Phosphorylation of Nir2 by Cdk1 facilitates its dissociation from the Golgi apparatus, and phospho-Nir2 is localized in the cleavage furrow and midbody during cytokinesis. (PMID:15125835)
• Nir2 is involved in maintaining a critical DAG pool in the Golgi apparatus by regulating its consumption via the CDP-choline pathway (PMID:15723057)
• RdgB homologs play a preemptive role in excluding endogenous and exogenous modified purine deoxyribonucleoside triphosphates (dTNPs) from incorporation into DNA. (PMID:17090528)
• Nir2 translocates from the Golgi complex to the plasma membrane in response to GF stimulation. (PMID:23897088)
• Results suggest a feedback mechanism that replenishes PM PIP2 during receptor-induced Ca(2+) signaling via the Ca(2+) effector E-Syt1 and the PITP Nir2 at ER-PM junctions. (PMID:24183667)
• results suggest that Nir2 not only enhances EMT in vitro and breast cancer metastasis in animal models, but also contributes to breast cancer progression in human patients. (PMID:25179602)
• Phosphatidic acid production triggers Phosphatidylinositol 4,5-Bisphosphate replenishment mediated by Nir2 and Nir3 at endoplasmic reticulum-plasma membrane junctions. (PMID:25887399)
• Authors found that the phosphatidylinositol transfer protein Nir2 acts as an LTP and may replenish PI at the HCV RO by interacting with VAMP-associated proteins (VAPs), enabling continuous viral replication during chronic infection. (PMID:31484747)
• Attenuation of PITPNM1 Signaling Cascade Can Inhibit Breast Cancer Progression. (PMID:34572478)

Cross-species orthologs

2 orthologs

Organism	Symbol	Gene ID
mus_musculus	Pitpnm1	ENSMUSG00000024851
rattus_norvegicus	Pitpnm1	ENSRNOG00000018553

Paralogs (5): PITPNM2 (ENSG00000090975), PITPNM3 (ENSG00000091622), PITPNC1 (ENSG00000154217), PITPNA (ENSG00000174238), PITPNB (ENSG00000180957)

Protein

Protein identifiers

Membrane-associated phosphatidylinositol transfer protein 1 — O00562 (reviewed: O00562)

Alternative names: Drosophila retinal degeneration B homolog, Phosphatidylinositol transfer protein, membrane-associated 1, Pyk2 N-terminal domain-interacting receptor 2

All UniProt accessions (5): O00562, E9PMS0, E9PMZ6, E9PNU6, E9PSD1

UniProt curated annotations — full annotation on UniProt →

Function. Catalyzes the transfer of phosphatidylinositol (PI) between membranes. Binds PI, phosphatidylcholine (PC) and phosphatidic acid (PA) with the binding affinity order of PI > PA > PC. Regulates RHOA activity, and plays a role in cytoskeleton remodeling. Necessary for normal completion of cytokinesis. Plays a role in maintaining normal diacylglycerol levels in the Golgi apparatus. Necessary for maintaining the normal structure of the endoplasmic reticulum and the Golgi apparatus. Required for protein export from the endoplasmic reticulum and the Golgi. Binds calcium ions.

Subunit / interactions. Interacts with PIK4CA. Interacts with PTK2B via its C-terminus. Interacts with RHOA. Has higher affinity for the inactive, GDP-bound form of RHOA. The CDK1-phosphorylated form interacts with PLK1. Interacts with VAPB.

Subcellular location. Cytoplasm. Golgi apparatus. Golgi stack membrane. Endoplasmic reticulum membrane. Lipid droplet. Cleavage furrow. Midbody.

Tissue specificity. Ubiquitous.

Post-translational modifications. Phosphorylated on multiple sites by CDK1 at the onset of mitosis. Phosphorylation facilitates dissociation from the Golgi complex and is required for interaction with PLK1. Phosphorylated on threonine residues upon treatment with oleic acid. Phosphorylated on tyrosine residues by PTK2B.

Similarity. Belongs to the PtdIns transfer protein family. PI transfer class IIA subfamily.

Isoforms (2)

UniProt ID	Names	Canonical?
O00562-1	1	yes
O00562-2	2

RefSeq proteins (2): NP_001124320, NP_004901* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR001666	PI_transfer	Family
IPR004177	DDHD_dom	Domain
IPR023214	HAD_sf	Homologous_superfamily
IPR023393	START-like_dom_sf	Homologous_superfamily
IPR031315	LNS2/PITP	Domain
IPR036412	HAD-like_sf	Homologous_superfamily
IPR055261	PI_transfer_N	Domain

Pfam: PF02121, PF02862, PF24694, PF24695

Catalyzed reactions (Rhea), 1 shown:

• a 1,2-diacyl-sn-glycero-3-phospho-(1D-myo-inositol)(in) = a 1,2-diacyl-sn-glycero-3-phospho-(1D-myo-inositol)(out) (RHEA:38691)

UniProt features (43 total): modified residue 19, mutagenesis site 11, region of interest 4, sequence conflict 4, compositionally biased region 2, chain 1, domain 1, splice variant 1

Structure

Experimental structures (PDB)

1 structures.

PDB	Method	Resolution (Å)
9JYX	X-RAY DIFFRACTION	2.8

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-O00562-F1	71.01	0.39

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): 300, 304, 319, 326, 329, 342, 345, 346, 373, 382, 593, 600, 621, 896, 1211, 1218, 1237, 59, 287

Mutagenesis-validated functional residues (11):

Position	Phenotype
59	prevents association with lipid droplets.
59	causes association with lipid droplets.
287	slightly reduced phosphorylation. strongly reduced phosphorylation; when associated with a-794 or a-389. loss of threoni
300	no effect on phosphorylation.
326	no effect on phosphorylation.
349–353	loss of interaction with vapb.
382	strongly reduced phosphorylation.
389	no detectable effect on phosphorylation; when associated with a-793 and a-1222. strongly reduced phosphorylation; when a
794	no detectable effect on phosphorylation; when associated with a-389 and a-1222. strongly reduced phosphorylation; when a
896	reduced phosphorylation.
1223	no detectable effect on phosphorylation; when associated with a-389 and a-793. loss of threonine phosphorylation; when a

Function

Pathways and Gene Ontology

Reactome pathways

1 pathways

ID	Pathway
R-HSA-1483226	Synthesis of PI

MSigDB gene sets: 249 (showing top): MORF_RAGE, GOBP_PHOSPHOLIPID_METABOLIC_PROCESS, GOBP_PHOSPHATIDYLINOSITOL_METABOLIC_PROCESS, RORA1_01, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_UP, GRAESSMANN_RESPONSE_TO_MC_AND_DOXORUBICIN_UP, THEILGAARD_NEUTROPHIL_AT_SKIN_WOUND_DN, GOBP_PHOTOTRANSDUCTION, GOBP_ORGANOPHOSPHATE_METABOLIC_PROCESS, TGACCTY_ERR1_Q2, GGGTGGRR_PAX4_03, chr11q13, GOBP_ORGANOPHOSPHATE_BIOSYNTHETIC_PROCESS, GOBP_PHOSPHOLIPID_BIOSYNTHETIC_PROCESS, GOBP_ORGANOPHOSPHATE_ESTER_TRANSPORT

GO Biological Process (7): lipid metabolic process (GO:0006629), phosphatidylinositol biosynthetic process (GO:0006661), brain development (GO:0007420), phototransduction (GO:0007602), protein transport (GO:0015031), phospholipid transport (GO:0015914), intermembrane lipid transfer (GO:0120009)

GO Molecular Function (10): calcium ion binding (GO:0005509), phosphatidylcholine intramembrane carrier activity (GO:0008525), phosphatidylinositol transfer activity (GO:0008526), receptor tyrosine kinase binding (GO:0030971), phosphatidylcholine binding (GO:0031210), phosphatidylinositol binding (GO:0035091), phosphatidic acid binding (GO:0070300), protein binding (GO:0005515), obsolete phospholipid transporter activity (GO:0005548), metal ion binding (GO:0046872)

GO Cellular Component (11): cytoplasm (GO:0005737), endoplasmic reticulum membrane (GO:0005789), lipid droplet (GO:0005811), cytosol (GO:0005829), membrane (GO:0016020), midbody (GO:0030496), cleavage furrow (GO:0032154), Golgi cisterna membrane (GO:0032580), cell body (GO:0044297), endoplasmic reticulum (GO:0005783), Golgi apparatus (GO:0005794)

Reactome top-level categories

Rollup of top-1 pathways:

Category	Pathways
Glycerophospholipid biosynthesis	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	5
cytoplasm	3
lipid transport	2
phospholipid binding	2
cation binding	2
anion binding	2
organelle membrane	2
endomembrane system	2
intracellular membrane-bounded organelle	2
primary metabolic process	1
biosynthetic process	1
phosphatidylinositol metabolic process	1
central nervous system development	1
animal organ development	1
head development	1
signal transduction	1
detection of light stimulus	1
transport	1
intracellular protein localization	1
establishment of protein localization	1
organophosphate ester transport	1
membrane organization	1
metal ion binding	1
intramembrane lipid carrier activity	1
phosphatidylinositol binding	1
lipid transfer activity	1
signaling receptor binding	1
protein tyrosine kinase binding	1
quaternary ammonium group binding	1
binding	1
intracellular anatomical structure	1
nuclear outer membrane-endoplasmic reticulum membrane network	1
endoplasmic reticulum subcompartment	1
intracellular membraneless organelle	1
cell division site	1
plasma membrane region	1
Golgi cisterna	1

Protein interactions and networks

STRING

1090 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
PITPNM1	PTK2B	Q14289	922
PITPNM1	OCM2	P0CE71	864
PITPNM1	OCM	P0CE72	823
PITPNM1	SLC26A5	P58743	775
PITPNM1	VAPB	O95292	757
PITPNM1	OSBP	P22059	727
PITPNM1	RHOA	P06749	723
PITPNM1	PDE6B	P35913	692
PITPNM1	ESYT1	Q9BSJ8	677
PITPNM1	CERT1	Q9Y5P4	671
PITPNM1	VAPA	Q9P0L0	633
PITPNM1	RPE65	Q16518	630
PITPNM1	NR2E3	Q9Y5X4	621
PITPNM1	GFI1	Q99684	603
PITPNM1	C2CD2L	O14523	582

IntAct

25 interactions, top by confidence:

A	B	Type	Score
VAPB	FAM83G	psi-mi:“MI:0914”(association)	0.730
VAPB	PITPNM1	psi-mi:“MI:0914”(association)	0.730
VAPA	FAM83G	psi-mi:“MI:0914”(association)	0.640
VAPA	PITPNM1	psi-mi:“MI:0914”(association)	0.640
TFCP2	PITPNM1	psi-mi:“MI:0915”(physical association)	0.560
NS1		psi-mi:“MI:0914”(association)	0.350
	HLA-C	psi-mi:“MI:0914”(association)	0.350
VAPA	ESYT2	psi-mi:“MI:0914”(association)	0.350
VAPB	ESYT2	psi-mi:“MI:0914”(association)	0.350
INSR	RIMOC1	psi-mi:“MI:0914”(association)	0.350
MAPT	PITPNM1	psi-mi:“MI:2364”(proximity)	0.270
MAPT	DCTN6	psi-mi:“MI:2364”(proximity)	0.270
MAPT		psi-mi:“MI:2364”(proximity)	0.270
bioD1	PITPNM1	psi-mi:“MI:0915”(physical association)	0.000

BioGRID (33): PITPNM1 (Two-hybrid), PITPNM1 (Affinity Capture-MS), PITPNM1 (Affinity Capture-MS), PITPNM1 (Affinity Capture-MS), PITPNM1 (Affinity Capture-MS), PITPNM1 (Affinity Capture-MS), PITPNM1 (Affinity Capture-MS), PITPNM1 (Affinity Capture-MS), PITPNM1 (Affinity Capture-RNA), PITPNM1 (Affinity Capture-RNA), PITPNM1 (Proximity Label-MS), PITPNM1 (Proximity Label-MS), PITPNM1 (Proximity Label-MS), PITPNM1 (Proximity Label-MS), PITPNM1 (Two-hybrid)

ESM2 similar proteins: A0JMH0, A2ARP1, A5PK74, A7Z050, A9JTG5, B5DE73, B5DFG1, D3YY23, D3ZU57, O00562, O35954, O43304, P0C644, P0CB42, P16386, Q01433, Q02356, Q09200, Q10468, Q32P28, Q3SZL5, Q3U308, Q3V1T4, Q4KLM6, Q5HZW3, Q5RDF1, Q5RF50, Q5U2N3, Q5ZMM1, Q68J42, Q6ICH7, Q6JHU7, Q6PD26, Q6PFW1, Q6YRM6, Q80VP9, Q86TL0, Q8BGV9, Q8BGW1, Q8CG71

Diamond homologs: G5EEM9, O00562, O35954, O46606, P43125, Q5U2N3, Q6ZPQ6, Q80YA3, Q8NEL9, P16446, P48738, P48739, P53810, P53811, P53812, Q00169, Q28CA0, Q2HJ54, Q3UHE1, Q54D93, Q54VC7, Q5R6F0, Q6NZC7, Q8K4R4, Q8W5R2, Q9BZ71, Q9BZ72, Q9NCL7, Q9NCL8, Q9TR36, Q9U9P7, Q9UKF7, Q8ET41, O94830, Q12204, Q495M9, Q80T11, Q80Y98, Q8N8V4, Q9Y6Y8

SIGNOR signaling

4 interactions.

A	Effect	B	Mechanism
CDK1	up-regulates	PITPNM1	phosphorylation
MAPK1	up-regulates	PITPNM1	phosphorylation

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	172
Likely benign	7
Benign	3

Top pathogenic / likely-pathogenic (0)

SpliceAI

3341 predictions. Top by Δscore:

Variant	Effect	Δscore
11:67492928:CCTCA:C	donor_loss	1.0000
11:67492929:CTCAC:C	donor_loss	1.0000
11:67492930:TCA:T	donor_loss	1.0000
11:67492931:CACC:C	donor_loss	1.0000
11:67492932:ACCT:A	donor_loss	1.0000
11:67492933:C:A	donor_loss	1.0000
11:67493058:TCTAC:T	acceptor_loss	1.0000
11:67493059:CTAC:C	acceptor_gain	1.0000
11:67493060:TACC:T	acceptor_loss	1.0000
11:67493062:CCTG:C	acceptor_loss	1.0000
11:67493063:C:CG	acceptor_loss	1.0000
11:67493064:T:A	acceptor_loss	1.0000
11:67493407:CACC:C	donor_loss	1.0000
11:67493408:ACCT:A	donor_gain	1.0000
11:67493409:C:CT	donor_loss	1.0000
11:67493409:CCTC:C	donor_gain	1.0000
11:67493411:T:TA	donor_gain	1.0000
11:67493594:C:CA	acceptor_loss	1.0000
11:67493594:C:CC	acceptor_gain	1.0000
11:67493833:CGCCC:C	acceptor_gain	1.0000
11:67493834:GCCCC:G	acceptor_loss	1.0000
11:67493835:CCC:C	acceptor_gain	1.0000
11:67493836:CC:C	acceptor_gain	1.0000
11:67493836:CCC:C	acceptor_gain	1.0000
11:67493836:CCCT:C	acceptor_loss	1.0000
11:67493837:CC:C	acceptor_gain	1.0000
11:67493838:C:CC	acceptor_gain	1.0000
11:67493838:CTG:C	acceptor_loss	1.0000
11:67493839:T:G	acceptor_loss	1.0000
11:67493846:C:T	acceptor_gain	1.0000

AlphaMissense

8050 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
11:67493022:T:A	D1128V	1.000
11:67493022:T:C	D1128G	1.000
11:67493022:T:G	D1128A	1.000
11:67493023:C:G	D1128H	1.000
11:67493025:T:A	K1127I	1.000
11:67493034:C:T	G1124E	1.000
11:67493035:C:A	G1124W	1.000
11:67493035:C:G	G1124R	1.000
11:67493035:C:T	G1124R	1.000
11:67493440:C:A	K1104N	1.000
11:67493440:C:G	K1104N	1.000
11:67493497:G:C	F1085L	1.000
11:67493497:G:T	F1085L	1.000
11:67493498:A:G	F1085S	1.000
11:67493499:A:G	F1085L	1.000
11:67493505:G:C	H1083D	1.000
11:67493513:A:G	L1080P	1.000
11:67493515:C:A	W1079C	1.000
11:67493515:C:G	W1079C	1.000
11:67493517:A:G	W1079R	1.000
11:67493517:A:T	W1079R	1.000
11:67493550:G:C	R1068G	1.000
11:67493555:G:A	T1066I	1.000
11:67493555:G:T	T1066K	1.000
11:67493562:A:C	Y1064D	1.000
11:67493691:A:T	V1052D	1.000
11:67493706:C:T	G1047D	1.000
11:67493721:G:T	P1042H	1.000
11:67493731:C:G	G1039R	1.000
11:67493742:A:T	V1035D	1.000

dbSNP variants (sampled 300 via entrez): RS1000009382 (11:67503681 C>T), RS1000200778 (11:67504286 C>A,T), RS1000237982 (11:67506625 G>A), RS1000389359 (11:67500299 G>A), RS1000595664 (11:67494488 A>G), RS1000778052 (11:67496880 A>C), RS1001408108 (11:67506914 G>C), RS1001576252 (11:67500907 A>G), RS1001744275 (11:67492711 G>A), RS1001771510 (11:67494864 G>A,T), RS1001797142 (11:67501171 G>A), RS1002006168 (11:67507225 A>G), RS1002133683 (11:67491543 C>T), RS1002732555 (11:67497197 G>T), RS1002748839 (11:67505883 C>T)

Disease associations

OMIM: gene MIM:608794 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

1 associations (top):

Study	Trait	p-value
GCST010002_241	Refractive error	3.000000e-13

Drugs & pharmacology

Drug and pharmacology data

Is drug target: yes

ChEMBL targets (1): CHEMBL1764937 (SINGLE PROTEIN)

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 expression, decreases expression, increases expression, increases methylation	4
Air Pollutants	increases expression, affects expression, affects cotreatment, increases abundance	3
Benzo(a)pyrene	increases expression	2
Ozone	increases abundance, affects expression, affects cotreatment, increases expression	2
Tetrachlorodibenzodioxin	increases expression	2
aristolochic acid I	increases expression	1
FR900359	affects phosphorylation	1
bisphenol F	affects cotreatment, decreases expression	1
TAK-243	decreases sumoylation	1
triphenyl phosphate	affects expression	1
alpha-pinene	affects cotreatment, increases expression, increases abundance	1
beta-lapachone	increases expression	1
arsenite	affects binding, decreases reaction	1
tris(1,3-dichloro-2-propyl)phosphate	increases expression	1
sodium arsenite	decreases expression	1
methacrylaldehyde	increases abundance, affects cotreatment, increases expression	1
CGP 52608	affects binding, increases reaction	1
(+)-JQ1 compound	increases expression	1
MT19c compound	decreases expression	1
4-(4-((5-(4,5-dimethyl-2-nitrophenyl)-2-furanyl)methylene)-4,5-dihydro-3-methyl-5-oxo-1H-pyrazol-1-yl)benzoic acid	decreases expression	1
Temozolomide	decreases expression	1
Acetaminophen	increases expression	1
Acrolein	increases expression, increases abundance, affects cotreatment	1
Caffeine	affects phosphorylation	1
Dexamethasone	affects cotreatment, decreases expression	1
Doxorubicin	decreases expression	1
Indomethacin	affects cotreatment, decreases expression	1
Ivermectin	decreases expression	1
Quercetin	increases expression	1
Selenium	increases expression	1

ChEMBL screening assays

2 unique, capped per target: 2 binding

Representative assays (with source publication via chembl_document):

Assay ID	Type	Description	Source paper
CHEMBL1769045	Binding	Binding affinity to human Pyk2 assessed as residual binding at 1 uM by site dependent competitive binding assay	Cysteine mapping in conformationally distinct kinase nucleotide binding sites: application to the design of selective covalent inhibitors. — J Med Chem

Clinical trials (associated diseases)

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