MPP2

Summary

MPP2 (MAGUK p55 scaffold protein 2, HGNC:7220) is a protein-coding gene on chromosome 17q21.31, encoding MAGUK p55 subfamily member 2 (Q14168). Postsynaptic MAGUK scaffold protein that links CADM1 cell adhesion molecules to core components of the postsynaptic density.

Palmitoylated membrane protein 2 is a member of a family of membrane-associated proteins termed MAGUKs (membrane-associated guanylate kinase homologs). MAGUKs interact with the cytoskeleton and regulate cell proliferation, signaling pathways, and intracellular junctions. Palmitoylated membrane protein 2 contains a conserved sequence, called the SH3 (src homology 3) motif, found in several other proteins that associate with the cytoskeleton and are suspected to play important roles in signal transduction.

Source: NCBI Gene 4355 — RefSeq curated summary.

At a glance

• Gene–disease (curated): intellectual disability (Moderate, GenCC) — +2 more curated relationships
• GWAS associations: 59
• Clinical variants (ClinVar): 217 total — 3 likely-pathogenic
• Phenotypes (HPO): 1
• Dosage sensitivity (ClinGen): haploinsufficiency little evidence, triplosensitivity no evidence
• MANE Select transcript: NM_005374

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:7220
Approved symbol	MPP2
Name	MAGUK p55 scaffold protein 2
Location	17q21.31
Locus type	gene with protein product
Status	Approved
Aliases	DKFZp761D0712
Ensembl gene	ENSG00000108852
Ensembl biotype	protein_coding
OMIM	600723
Entrez	4355

Gene structure

Transcript identifiers

Ensembl transcripts: 26 — 25 protein_coding, 1 retained_intron

ENST00000269095, ENST00000377184, ENST00000461854, ENST00000473246, ENST00000518478, ENST00000518766, ENST00000520241, ENST00000520305, ENST00000520319, ENST00000520406, ENST00000521178, ENST00000522172, ENST00000523220, ENST00000523501, ENST00000523762, ENST00000523934, ENST00000524294, ENST00000536246, ENST00000612133, ENST00000622681, ENST00000881428, ENST00000881432, ENST00000967291, ENST00000967292, ENST00000967293, ENST00000967294

RefSeq mRNA: 9 — MANE Select: NM_005374 NM_001278370, NM_001278371, NM_001278372, NM_001278373, NM_001278374, NM_001278375, NM_001278376, NM_001278381, NM_005374

CCDS: CCDS11471, CCDS62206, CCDS62207, CCDS62208, CCDS62209, CCDS62210

Canonical transcript exons

ENST00000269095 — 13 exons

Exon	Start	End
ENSE00000731200	43882284	43882511
ENSE00000731201	43881458	43881589
ENSE00000731202	43881244	43881349
ENSE00000731204	43881090	43881158
ENSE00000731208	43880691	43880852
ENSE00000731210	43879782	43879984
ENSE00000731212	43879275	43879403
ENSE00002124707	43907474	43907536
ENSE00003514648	43883203	43883355
ENSE00003602328	43904430	43904493
ENSE00003667832	43898262	43898380
ENSE00003783983	43882903	43883052
ENSE00003899705	43875360	43877983

Expression profiles

Bgee: expression breadth ubiquitous, 210 present calls, max score 90.83.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 4.9272 / max 103.6372, expressed in 1079 samples.

FANTOM5 promoters (11 alternative TSS)

Promoter ID	TPM avg	Samples expressed
166283	2.5821	700
166282	1.0766	486
166285	0.5978	235
121678	0.3532	148
121649	0.3267	91
121651	0.2412	137
166284	0.1878	94
121677	0.1616	68
121648	0.1096	52
121650	0.0465	29

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
C1 segment of cervical spinal cord	UBERON:0006469	90.83	gold quality
prefrontal cortex	UBERON:0000451	90.50	gold quality
spinal cord	UBERON:0002240	89.47	gold quality
right hemisphere of cerebellum	UBERON:0014890	89.47	gold quality
cerebellar hemisphere	UBERON:0002245	89.11	gold quality
cerebellar cortex	UBERON:0002129	89.07	gold quality
right frontal lobe	UBERON:0002810	88.54	gold quality
cerebellum	UBERON:0002037	88.07	gold quality
frontal cortex	UBERON:0001870	87.80	gold quality
hypothalamus	UBERON:0001898	87.51	gold quality
Brodmann (1909) area 9	UBERON:0013540	87.13	gold quality
neocortex	UBERON:0001950	87.00	gold quality
cingulate cortex	UBERON:0003027	86.03	gold quality
anterior cingulate cortex	UBERON:0009835	85.91	gold quality
cortical plate	UBERON:0005343	85.88	gold quality
dorsolateral prefrontal cortex	UBERON:0009834	85.77	gold quality
cerebral cortex	UBERON:0000956	85.65	gold quality
amygdala	UBERON:0001876	85.64	gold quality
substantia nigra	UBERON:0002038	85.55	gold quality
Brodmann (1909) area 10	UBERON:0013541	85.49	gold quality
inferior olivary complex	UBERON:0002127	85.41	gold quality
midbrain	UBERON:0001891	85.11	gold quality
central nervous system	UBERON:0001017	85.05	gold quality
brain	UBERON:0000955	84.91	gold quality
telencephalon	UBERON:0001893	84.71	gold quality
forebrain	UBERON:0001890	84.61	gold quality
substantia nigra pars reticulata	UBERON:0001966	84.47	gold quality
Ammon’s horn	UBERON:0001954	84.39	gold quality
secondary oocyte	CL:0000655	84.31	gold quality
corpus callosum	UBERON:0002336	83.87	gold quality

Single-cell (SCXA)

Detected in 1 experiment(s), a significant marker in 0.

Experiment	Marker?	Max mean expression
E-ANND-3	no	4.00

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

101 targeting MPP2, 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-8485	100.00	77.57	4731
HSA-MIR-4510	100.00	66.60	2050
HSA-MIR-6127	100.00	66.76	2188
HSA-MIR-6129	100.00	66.46	2080
HSA-MIR-6130	100.00	66.69	2012
HSA-MIR-6133	100.00	66.48	2064
HSA-MIR-574-5P	100.00	66.01	989
HSA-MIR-4283	100.00	66.42	2097
HSA-MIR-432-3P	100.00	67.86	705
HSA-MIR-34A-5P	99.99	71.21	1784
HSA-MIR-449A	99.99	71.05	1776
HSA-MIR-4531	99.99	69.70	3181
HSA-MIR-34C-5P	99.97	70.45	1577
HSA-MIR-449B-5P	99.97	70.26	1580
HSA-MIR-6825-5P	99.96	69.81	3431
HSA-MIR-548AA	99.96	70.64	3753
HSA-MIR-548AP-3P	99.96	70.64	3753
HSA-MIR-548T-3P	99.96	70.64	3753
HSA-MIR-23A-3P	99.95	74.24	3163
HSA-MIR-23B-3P	99.95	74.24	3163
HSA-MIR-23C	99.95	73.92	3192
HSA-MIR-6809-3P	99.91	71.45	3814
HSA-MIR-6780A-5P	99.88	66.69	2776
HSA-MIR-3919	99.87	69.45	2489
HSA-MIR-4728-5P	99.85	69.39	4718
HSA-MIR-4739	99.84	65.25	1832
HSA-MIR-1321	99.84	65.30	1811
HSA-MIR-4756-5P	99.84	64.98	1809
HSA-MIR-765	99.84	68.24	2442
HSA-MIR-6785-5P	99.82	68.68	4428

Functional genomics

ClinGen dosage: haploinsufficiency 1 (little evidence), triplosensitivity 0 (no evidence). ClinGen Gene Dosage Map

Literature-anchored findings (GeneRIF, showing 2)

• MPP2 interacts with c-Src in cells to control c-Src activity and morphological function. (PMID:19665017)
• A de novo missense mutation in MPP2 confers an increased risk of Vogt-Koyanagi-Harada disease as shown by trio-based whole-exome sequencing. (PMID:37828081)

Cross-species orthologs

8 orthologs

Organism	Symbol	Gene ID
danio_rerio	mpp2b	ENSDARG00000010957
danio_rerio	mpp2a	ENSDARG00000053453
mus_musculus	Mpp2	ENSMUSG00000017314
rattus_norvegicus	Mpp2	ENSRNOG00000059683
drosophila_melanogaster	metro	FBGN0050021
drosophila_melanogaster	vari	FBGN0250785
caenorhabditis_elegans	magu-3	WBGENE00016841
caenorhabditis_elegans		WBGENE00021914

Paralogs (7): PALS1 (ENSG00000072415), MPP4 (ENSG00000082126), PALS2 (ENSG00000105926), MPP1 (ENSG00000130830), CASK (ENSG00000147044), MPP7 (ENSG00000150054), MPP3 (ENSG00000161647)

Protein

Protein identifiers

MAGUK p55 subfamily member 2 — Q14168 (reviewed: Q14168)

Alternative names: Discs large homolog 2, Protein MPP2

All UniProt accessions (16): Q14168, A0A087WVY2, A0A087X0C7, A0A0A0MRU0, A0A0C4DH75, B4DZ84, D3DX48, D3DX49, E5RFN8, E5RI32, E5RI47, E5RIM9, E5RIU3, E5RJK0, E5RK44, E5RK50

UniProt curated annotations — full annotation on UniProt →

Function. Postsynaptic MAGUK scaffold protein that links CADM1 cell adhesion molecules to core components of the postsynaptic density. In CA1 pyramidal neurons, required for synaptic KCNN2-containing channel function and long-term potentiation expression. Seems to negatively regulate SRC function in epithelial cells.

Subunit / interactions. Can homomultimerise. Interacts with CACNG2. Interacts (via the SH3-Guanylate kinase-like sub-module) with DLG4/PSD95 and DLGAP1/GKAP. Interacts (via the PDZ domain) with CADM1 (via C-terminus). Interacts with KCNN2/SK2 (via N-terminal domain). Interacts with SRC.

Subcellular location. Cytoplasm. Cytoskeleton. Membrane. Cell projection. Dendrite. Postsynaptic density.

Post-translational modifications. Phosphorylated by SRC.

Similarity. Belongs to the MAGUK family.

Isoforms (6)

UniProt ID	Names	Canonical?
Q14168-1	1	yes
Q14168-2	2
Q14168-3	3
Q14168-4	4
Q14168-5	5
Q14168-6	6

RefSeq proteins (9): NP_001265299, NP_001265300, NP_001265301, NP_001265302, NP_001265303, NP_001265304, NP_001265305, NP_001265310, NP_005365* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR001452	SH3_domain	Domain
IPR001478	PDZ	Domain
IPR004172	L27_dom	Domain
IPR008144	Guanylate_kin-like_dom	Domain
IPR008145	GK/Ca_channel_bsu	Domain
IPR014775	L27_C	Domain
IPR020590	Guanylate_kinase_CS	Conserved_site
IPR027417	P-loop_NTPase	Homologous_superfamily
IPR035602	MPP2_SH3	Domain
IPR036028	SH3-like_dom_sf	Homologous_superfamily
IPR036034	PDZ_sf	Homologous_superfamily
IPR036892	L27_dom_sf	Homologous_superfamily
IPR050716	MAGUK	Family

Pfam: PF00595, PF00625, PF02828, PF07653

UniProt features (28 total): domain 5, splice variant 5, sequence conflict 5, strand 5, modified residue 3, mutagenesis site 2, helix 2, chain 1

Structure

Experimental structures (PDB)

1 structures.

PDB	Method	Resolution (Å)
2E7K	SOLUTION NMR

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q14168-F1	79.32	0.43

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 (3): 42, 141, 145

Mutagenesis-validated functional residues (2):

Position	Phenotype
363	enhances association with the cytoskeleton. diminishes the inhibitory effect on src.
363	enhances association with the cytoskeleton.

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 596 (showing top): GSE45365_CTRL_VS_MCMV_INFECTION_NK_CELL_UP, MORF_RAGE, RNGTGGGC_UNKNOWN, MORF_FLT1, GOBP_NUCLEOSIDE_DIPHOSPHATE_METABOLIC_PROCESS, GOBP_AXO_DENDRITIC_TRANSPORT, WWTAAGGC_UNKNOWN, YAGI_AML_WITH_INV_16_TRANSLOCATION, GOBP_ESTABLISHMENT_OR_MAINTENANCE_OF_CELL_POLARITY, GOBP_INTRACELLULAR_PROTEIN_TRANSPORT, AAGTCCA_MIR422B_MIR422A, GCANCTGNY_MYOD_Q6, AREB6_03, AAGCCAT_MIR135A_MIR135B, GRAESSMANN_APOPTOSIS_BY_SERUM_DEPRIVATION_DN

GO Biological Process (4): protein homooligomerization (GO:0051260), excitatory postsynaptic potential (GO:0060079), long-term synaptic potentiation (GO:0060291), maintenance of postsynaptic density structure (GO:0099562)

GO Molecular Function (3): protein binding (GO:0005515), transmembrane transporter binding (GO:0044325), structural constituent of postsynaptic density (GO:0098919)

GO Cellular Component (16): cytoskeleton (GO:0005856), plasma membrane (GO:0005886), cell-cell junction (GO:0005911), postsynaptic density (GO:0014069), dendrite membrane (GO:0032590), dendritic spine (GO:0043197), dendritic shaft (GO:0043198), cytoplasm (GO:0005737), membrane (GO:0016020), dendrite (GO:0030425), cell projection (GO:0042995), organelle (GO:0043226), synapse (GO:0045202), Schaffer collateral - CA1 synapse (GO:0098685), postsynaptic density membrane (GO:0098839), glutamatergic synapse (GO:0098978)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	5
dendrite	3
postsynaptic density	2
synapse	2
protein complex oligomerization	1
regulation of postsynaptic membrane potential	1
chemical synaptic transmission, postsynaptic	1
regulation of synaptic plasticity	1
positive regulation of synaptic transmission	1
maintenance of postsynaptic specialization structure	1
binding	1
protein binding	1
structural constituent of postsynaptic specialization	1
maintenance of postsynaptic density structure	1
intracellular membraneless organelle	1
membrane	1
cell periphery	1
anchoring junction	1
asymmetric synapse	1
postsynaptic specialization	1
neuron projection membrane	1
neuron spine	1
postsynapse	1
intracellular anatomical structure	1
neuron projection	1
dendritic tree	1
cell junction	1
postsynaptic membrane	1
postsynaptic specialization membrane	1

Protein interactions and networks

STRING

2400 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
MPP2	TJAP1	Q5JTD0	849
MPP2	BEGAIN	Q9BUH8	805
MPP2	LIN7A	O14910	788
MPP2	GRIN2B	Q13224	756
MPP2	DLGAP1	P78335	666
MPP2	GRIN2A	Q12879	665
MPP2	DLG4	P78352	635
MPP2	F11R	Q9Y624	632
MPP2	CNTN4	Q8IWV2	616
MPP2	SHANK1	Q9Y566	591
MPP2	LIN7C	Q9NUP9	583
MPP2	TJP1	Q07157	579
MPP2	GRID2	O43424	555
MPP2	CTNNA3	Q9UI47	551
MPP2	SYT1	P21579	550

IntAct

471 interactions, top by confidence:

A	B	Type	Score
MPP2	LIN7A	psi-mi:“MI:0914”(association)	0.640
CDA	LIN7A	psi-mi:“MI:0914”(association)	0.640
SLC20A1	LIN7A	psi-mi:“MI:0914”(association)	0.640
MILR1	INPPL1	psi-mi:“MI:0914”(association)	0.640
NECTIN1	MPP2	psi-mi:“MI:0407”(direct interaction)	0.590
CFTR	MPP2	psi-mi:“MI:0407”(direct interaction)	0.570
KSR2	POLR3A	psi-mi:“MI:0914”(association)	0.530
NGB	CCNB1	psi-mi:“MI:0914”(association)	0.530
MPP2	ABLIM1	psi-mi:“MI:0914”(association)	0.530
LIN7B	CASK	psi-mi:“MI:0914”(association)	0.530
MPP2	NRXN3	psi-mi:“MI:0407”(direct interaction)	0.440
CNTNAP2	MPP2	psi-mi:“MI:0407”(direct interaction)	0.440
NECTIN3	MPP2	psi-mi:“MI:0407”(direct interaction)	0.440
NRXN3	MPP2	psi-mi:“MI:0407”(direct interaction)	0.440
GYPC	MPP2	psi-mi:“MI:0407”(direct interaction)	0.440
GNG4	MPP2	psi-mi:“MI:0407”(direct interaction)	0.440
E6	MPP2	psi-mi:“MI:0407”(direct interaction)	0.440
Tax	MPP2	psi-mi:“MI:0407”(direct interaction)	0.440
E	MPP2	psi-mi:“MI:0407”(direct interaction)	0.440
PTEN	MPP2	psi-mi:“MI:0407”(direct interaction)	0.440
MPP2	RPS6KA1	psi-mi:“MI:0407”(direct interaction)	0.440
RPS6KA1	MPP2	psi-mi:“MI:0407”(direct interaction)	0.440
GP1	MPP2	psi-mi:“MI:0407”(direct interaction)	0.440

BioGRID (68): LIN7A (Two-hybrid), MPP2 (Affinity Capture-MS), MPP2 (Affinity Capture-MS), MPP2 (Affinity Capture-MS), MPP2 (Affinity Capture-MS), LIN7C (Affinity Capture-MS), DLG1 (Affinity Capture-MS), LIN7B (Affinity Capture-MS), MPP2 (Affinity Capture-MS), LIN7A (Affinity Capture-MS), MPP6 (Affinity Capture-MS), MPP2 (Affinity Capture-MS), MPP2 (Affinity Capture-MS), GID4 (Affinity Capture-MS), ARMC8 (Affinity Capture-MS)

ESM2 similar proteins: A0A0B7P9G0, A0A0R4IMY7, A0JPA0, D3ZAA9, O35454, P0C1Q3, P0C588, P16067, P20594, P32232, P33402, P35525, P46197, P47823, P51432, P51788, Q01970, Q13144, Q14168, Q1LWG4, Q32PX9, Q3TWN3, Q3USB7, Q3V384, Q4U2V3, Q502J0, Q5EBA1, Q5U2P1, Q62688, Q66K14, Q69ZF7, Q6P4Q7, Q7L5N7, Q80YD1, Q8BYI6, Q8CIR4, Q8IYB8, Q8K394, Q8WV93, Q91WT9

Diamond homologs: A6QQZ7, A8KBF6, A9CB74, B4F7E7, D3ZAA9, E2QY99, G5ECY0, O14936, O34328, O70589, O88910, O88954, P0C0M9, P15454, P31006, P31007, P44310, P46195, P49697, P54936, P65219, P65220, P65221, P70175, P70290, P72648, P93757, P99176, Q00013, Q13368, Q14168, Q15700, Q16774, Q17QN6, Q182S8, Q24210, Q2FHM9, Q2G1U0, Q2QPW1, Q2S8R2

SIGNOR signaling

0 interactions.

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 194 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
Synthesis of IP3 and IP4 in the cytosol	5	16.5×	9e-04
Signaling by high-kinase activity BRAF mutants	5	12.4×	3e-03
Neurexins and neuroligins	8	12.3×	9e-05
Assembly and cell surface presentation of NMDA receptors	6	11.9×	9e-04
MAP2K and MAPK activation	5	11.2×	4e-03
Signaling by RAF1 mutants	5	10.9×	4e-03
RHOQ GTPase cycle	7	9.9×	8e-04
Signaling by moderate kinase activity BRAF mutants	5	9.9×	5e-03

GO biological processes:

GO term	Partners	Fold	FDR
regulation of cardiac conduction	5	23.3×	3e-03

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	3
Uncertain significance	163
Likely benign	16
Benign	8

Top pathogenic / likely-pathogenic (3)

Variant ID	HGVS	Classification
545150	NC_000011.10:g.(?84405313)(84547789_?)del	Likely pathogenic
545151	NC_000011.10:g.(?84809995)(84986152_?)del	Likely pathogenic
545152	NC_000011.10:g.(?84877230)(84963429_?)del	Likely pathogenic

SpliceAI

0 predictions. Top by Δscore:

AlphaMissense

0 scored. Top likely-pathogenic:

dbSNP variants (sampled 300 via entrez): RS1000274304 (17:43883918 A>G), RS1000391860 (17:43897994 C>T), RS1000548294 (17:43905046 G>A,T), RS1000596673 (17:43882684 G>A,C), RS1000838242 (17:43902357 G>A), RS1000894180 (17:43899773 G>A,C), RS1000951733 (17:43896106 G>A), RS1001106694 (17:43893957 C>T), RS1001165263 (17:43907392 A>G), RS1001170663 (17:43875306 C>G), RS1001399569 (17:43901748 G>A), RS1001490113 (17:43900667 G>A), RS1001501200 (17:43905174 C>A), RS1001558036 (17:43908512 A>G,T), RS1001614482 (17:43899118 G>A)

Disease associations

OMIM: gene MIM:600723 | disease phenotypes: MIM:181500

GenCC curated gene-disease

Disease	Classification	Inheritance
intellectual disability	Moderate	Autosomal dominant
neurodevelopmental disorder	Limited	Autosomal dominant
delayed puberty, self-limited	Limited	Autosomal dominant

Mondo (4): schizophrenia (MONDO:0005090), neurodevelopmental disorder (MONDO:0700092), delayed puberty, self-limited (MONDO:0859205), intellectual disability (MONDO:0001071)

Orphanet (1): NON RARE IN EUROPE: Schizophrenia (Orphanet:3140)

HPO phenotypes

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

HPO	Term
HP:0100753	Schizophrenia

GWAS associations

59 associations (top):

Study	Trait	p-value
GCST000005_3	Parkinson’s disease	7.000000e-06
GCST000189_44	Protein quantitative trait loci	8.000000e-06
GCST001414_4	Phospholipid levels (plasma)	4.000000e-08
GCST001500_5	Wilms tumor	4.000000e-15
GCST001762_779	Obesity-related traits	8.000000e-06
GCST002524_2	Chronic periodontitis	9.000000e-06
GCST002544_23	Parkinson’s disease	4.000000e-07
GCST002750_2	Chronic obstructive pulmonary disease	8.000000e-08
GCST002756_4	Subcortical brain region volumes	4.000000e-11
GCST002829_9	Urate levels in overweight individuals	3.000000e-06
GCST003025_15	Attention function in attention deficit hyperactive disorder	5.000000e-06
GCST003124_23	Mild influenza (H1N1) infection	2.000000e-19
GCST003125_7	Influenza A (H1N1) infection	5.000000e-15
GCST003262_631	Post bronchodilator FEV1	4.000000e-06
GCST003264_1358	Post bronchodilator FEV1/FVC ratio	5.000000e-08
GCST003264_1361	Post bronchodilator FEV1/FVC ratio	6.000000e-08
GCST003264_1376	Post bronchodilator FEV1/FVC ratio	9.000000e-08
GCST003488_5	Response to fenofibrate (triglyceride levels)	9.000000e-06
GCST003922_4	Parkinson’s disease	6.000000e-08
GCST003997_24	Myopia	2.000000e-25
GCST004490_7	Cerebrospinal fluid t-tau:AB1-42 ratio	4.000000e-08
GCST004862_139	Itch intensity from mosquito bite adjusted by bite size	6.000000e-06
GCST004865_2	Itch intensity from mosquito bite adjusted by bite size	1.000000e-06
GCST004900_2	Migraine without aura	1.000000e-12
GCST004902_3	Parkinson’s disease	4.000000e-09
GCST005083_2	Putamen volume	2.000000e-08
GCST006088_15	Familial squamous cell lung carcinoma	2.000000e-06
GCST006088_18	Familial squamous cell lung carcinoma	3.000000e-06
GCST006291_123	Spherical equivalent or myopia (age of diagnosis)	9.000000e-15
GCST006606_8	Response to TNF inhibitor in rheumatoid arthritis (change in swollen 28-joint count)	4.000000e-08

EFO canonical traits (25, from GWAS)

EFO ID	Trait name
EFO:0003939	energy intake
EFO:0004531	urate measurement
EFO:0007636	attention function measurement
EFO:1001488	influenza A (H1N1)
EFO:0004314	forced expiratory volume
EFO:0004713	FEV/FVC ratio
EFO:0007681	triglyceride change measurement
EFO:0007708	t-tau:beta-amyloid 1-42 ratio measurement
EFO:0008377	mosquito bite reaction itch intensity measurement
EFO:0008378	mosquito bite reaction size measurement
EFO:0006953	family history of lung cancer
EFO:0004847	age at onset
EFO:0004653	response to TNF antagonist
EFO:0005413	joint damage measurement
EFO:0009749	age at first sexual intercourse measurement
EFO:0004338	body weight
EFO:0004340	body mass index
EFO:0005937	longitudinal BMI measurement
EFO:0009262	nicotine dependence symptom count
EFO:0008111	diet measurement
EFO:0007874	gut microbiome measurement
EFO:0004346	neuroimaging measurement
EFO:0000714	survival time
EFO:0011007	estrogen measurement
EFO:0008343	sex interaction measurement

MeSH disease descriptors (2)

Descriptor	Name	Tree numbers
D008607	Intellectual Disability	C10.597.606.360; C23.888.592.604.646; F01.700.687; F03.625.539
D065886	Neurodevelopmental Disorders	F03.625

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

PharmGKB clinical annotations

1 annotations.

Variant	Type	Level	Drugs	Phenotypes
rs2449598	Efficacy	3	anastrozole	Breast Neoplasms

PharmGKB variants

1 variants.

Variant	Genes	Level	Score	#Clin annots	Drugs
rs2449598	DLG2	3	0.00	1	anastrozole

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Benzo(a)pyrene	decreases methylation, increases expression, affects methylation	3
Air Pollutants	affects cotreatment, increases abundance, increases expression, decreases expression	2
Cisplatin	affects response to substance, decreases response to substance	2
Phenylmercuric Acetate	affects cotreatment, decreases expression	2
Tobacco Smoke Pollution	decreases expression	2
aristolochic acid I	increases expression	1
FR900359	increases phosphorylation	1
lasiocarpine	increases expression	1
alpha-pinene	affects cotreatment, increases expression, increases abundance	1
bisphenol A	increases expression	1
sulforaphane	decreases expression	1
tris(1,3-dichloro-2-propyl)phosphate	decreases expression	1
sodium arsenite	increases expression	1
zinc chromate	decreases expression, increases abundance	1
potassium chromate(VI)	increases expression	1
methacrylaldehyde	affects cotreatment, increases expression, increases abundance	1
chromium hexavalent ion	decreases expression, increases abundance	1
perfluorooctane sulfonic acid	decreases expression	1
CGP 52608	affects binding, increases reaction	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, decreases expression	1
abrine	decreases expression	1
Grape Seed Proanthocyanidins	affects cotreatment, increases expression	1
dorsomorphin	affects cotreatment, decreases expression	1
Temozolomide	decreases expression	1
Sunitinib	decreases expression	1
Troglitazone	decreases expression	1
Acrolein	affects cotreatment, increases expression, increases abundance	1
Carbamazepine	affects expression	1
Catechin	affects cotreatment, increases expression	1
Diazinon	increases methylation	1

Cellosaurus cell lines

1 cell lines: 1 transformed cell line

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

Cellosaurus	Name	Category	Sex
CVCL_B3B6	Abcam HEK293T MPP2 KO	Transformed cell line	Female

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT04586348	PHASE4	UNKNOWN	Prenatal Iodine Supplementation and Early Childhood Neurodevelopment
NCT04873115	PHASE4	UNKNOWN	Double-blind, Placebo-controlled, Randomized Clinical Trial Comparing the Efficacy and Safety of Sialanar Plus orAl rehabiLitation Against Placebo Plus Oral Rehabilitation for chIldren and Adolescents With seVere Sialorrhoea and Neurodisabilties,
NCT05657860	PHASE4	COMPLETED	Guanfacine Extended Release for the Reduction of Aggression and Self-injurious Behavior Associated With Prader-Willi Syndrome
NCT05744479	PHASE4	RECRUITING	Metformin for Antipsychotic-induced Weight Gain in Adults With Intellectual Disability
NCT06107829	PHASE4	WITHDRAWN	Valbenazine Treatment of Tardive Dyskinesia in Adults With Intellectual/Developmental Disabilities
NCT06997198	PHASE4	NOT_YET_RECRUITING	Deutetrabenazine Treatment for Tardive Dyskinesia in Intellectual/Developmental Disabilities
NCT00000374	PHASE4	COMPLETED	Treatment for First-Episode Schizophrenia
NCT00001656	PHASE4	COMPLETED	Comparison of Clozapine vs Olanzapine in Childhood-Onset Psychotic Disorders
NCT00007774	PHASE4	COMPLETED	To Determine if Olanzapine is More Cost Effective Than Haloperidol for the Treatment of Schizophrenia
NCT00014001	PHASE4	COMPLETED	CATIE- Schizophrenia Trial
NCT00018668	PHASE4	COMPLETED	Antipsychotic Response in Schizophrenia
NCT00034801	PHASE4	COMPLETED	Olanzapine Versus Active Comparator in the Treatment of Depression in Patients With Schizophrenia
NCT00034905	PHASE4	COMPLETED	A Comparison of Seroquel vs. Risperidone in Schizophrenia
NCT00036088	PHASE4	COMPLETED	Olanzapine Versus An Active Comparator in the Treatment of Schizophrenia
NCT00044187	PHASE4	COMPLETED	The Assessment of a Weight-Gain Agent for the Treatment of Olanzapine-Associated Anti-Obesity Agent in Patients With Schizophrenia, Schizophreniform Disorder, Schizoaffective Disorder, and Bipolar I Disorder
NCT00044655	PHASE4	COMPLETED	Switching Medication to Treat Schizophrenia
NCT00048828	PHASE4	COMPLETED	Treating Drug-Resistant Childhood Schizophrenia
NCT00053703	PHASE4	COMPLETED	Treatment of Early Onset Schizophrenia Spectrum Disorders (TEOSS)
NCT00056498	PHASE4	COMPLETED	Risperidone Treatment in Schizophrenia Patients Who Are Currently Taking Clozapine
NCT00061802	PHASE4	COMPLETED	Efficacy and Safety of Two Atypical Antipsychotics vs. Placebo in Patients With an Acute Exacerbation of Either Schizophrenia or Schizoaffective Disorder
NCT00080327	PHASE4	COMPLETED	Study of Three Doses of Aripiprazole in Patients With Acute Schizophrenia
NCT00088049	PHASE4	COMPLETED	Study of Olanzapine vs. Aripiprazole in the Treatment of Schizophrenia
NCT00090012	PHASE4	COMPLETED	Comparison of Continuing Olanzapine to Switching to Quetiapine in Overweight or Obese Patients With Schizophrenia and Schizoaffective Disorder
NCT00100776	PHASE4	COMPLETED	Efficacy of High Dose Olanzapine for the Treatment of Schizophrenia and Schizoaffective Disorder
NCT00103571	PHASE4	COMPLETED	Olanzapine Versus Aripiprazole in the Treatment of Acutely Ill Patients With Schizophrenia
NCT00108368	PHASE4	COMPLETED	The Effects of Risperidone and Olanzapine on Thinking
NCT00114595	PHASE4	COMPLETED	Ethyl-Eicosapentaenoic Acid and Tardive Dyskinesia
NCT00130923	PHASE4	COMPLETED	Risperidone Long-acting Versus Oral Risperidone in Patients With Schizophrenia and Alcohol Use Disorder
NCT00137020	PHASE4	COMPLETED	Clinical Effect Of Cross Titration Of Antipsychotics With Ziprasidone In Schizophrenia Or Schizoaffective Disorder
NCT00140166	PHASE4	COMPLETED	Treatment of Acute Schizophrenia With Vitamin Therapy
NCT00145847	PHASE4	COMPLETED	Naltrexone Treatment of Alcohol Abuse in Schizophrenia
NCT00148564	PHASE4	COMPLETED	Energy Homeostasis Under Treatment With Atypical Antipsychotics
NCT00156715	PHASE4	COMPLETED	Efficacy of Quetiapine in the Treatment of Patients With Schizophrenia and a Comorbid Substance Use Disorder
NCT00158223	PHASE4	COMPLETED	Effectiveness of Pimozide in Augmenting the Effects of Clozapine in the Treatment of Schizophrenia
NCT00159081	PHASE4	COMPLETED	One Year Drug Treatment in First-Episode Schizophrenia
NCT00159120	PHASE4	COMPLETED	Maintenance Treatment vs. Stepwise Drug Discontinuation in First-Episode Schizophrenia
NCT00159133	PHASE4	COMPLETED	Prodrome-Based Early Intervention With Antipsychotics vs. Benzodiazepines in First-Episode Schizophrenia
NCT00159757	PHASE4	TERMINATED	12 Week Open, Non-Comparative Switch Study Of Oral Ziprazidone In Previously Treated Schizophrenic Patients
NCT00167817	PHASE4	COMPLETED	Effect of Switch to Aripiprazole on Health and Smoking Parameters in Patients With Schizophrenia: A Pilot Study
NCT00169026	PHASE4	TERMINATED	Alcoholism and Schizophrenia: Effects of Clozapine