MTMR12

Summary

MTMR12 (myotubularin related protein 12, HGNC:18191) is a protein-coding gene on chromosome 5p13.3, encoding Myotubularin-related protein 12 (Q9C0I1). Acts as an adapter for the myotubularin-related phosphatases.

Phosphatidylinositide 3-kinase-derived membrane-anchored phosphatidylinositides, such as phosphatidylinositol 3-phosphate (PtdIns(3)P), regulate diverse cellular processes. The protein encoded by this gene functions as an adaptor subunit in a complex with an active PtdIns(3)P 3-phosphatase. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.

Source: NCBI Gene 54545 — RefSeq curated summary.

At a glance

• GWAS associations: 1
• Clinical variants (ClinVar): 79 total
• MANE Select transcript: NM_001040446

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:18191
Approved symbol	MTMR12
Name	myotubularin related protein 12
Location	5p13.3
Locus type	gene with protein product
Status	Approved
Aliases	3-PAP, FLJ20476, KIAA1682, 3PAP
Ensembl gene	ENSG00000150712
Ensembl biotype	protein_coding
OMIM	606501
Entrez	54545

Gene structure

Transcript identifiers

Ensembl transcripts: 18 — 14 protein_coding, 2 nonsense_mediated_decay, 1 retained_intron, 1 protein_coding_CDS_not_defined

ENST00000264934, ENST00000280285, ENST00000382142, ENST00000504049, ENST00000505419, ENST00000510216, ENST00000513622, ENST00000851374, ENST00000851375, ENST00000851376, ENST00000851377, ENST00000851378, ENST00000927254, ENST00000927255, ENST00000927256, ENST00000956408, ENST00000956409, ENST00000956410

RefSeq mRNA: 3 — MANE Select: NM_001040446 NM_001040446, NM_001294343, NM_001294344

CCDS: CCDS34138, CCDS75230, CCDS77998

Canonical transcript exons

ENST00000382142 — 16 exons

Exon	Start	End
ENSE00000861804	32242057	32242127
ENSE00000996023	32239001	32239173
ENSE00001164536	32233773	32233934
ENSE00001164542	32234962	32235129
ENSE00001164576	32255693	32255768
ENSE00001164585	32263113	32263242
ENSE00001200417	32312758	32312939
ENSE00002035057	32227007	32230347
ENSE00003474154	32270817	32270947
ENSE00003477632	32248002	32248126
ENSE00003484795	32276682	32276742
ENSE00003512563	32271833	32271905
ENSE00003529930	32243521	32243599
ENSE00003556254	32273980	32274122
ENSE00003575014	32268701	32268794
ENSE00003583950	32248772	32248878

Expression profiles

Bgee: expression breadth ubiquitous, 270 present calls, max score 95.51.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 20.2056 / max 120.5477, expressed in 1810 samples.

FANTOM5 promoters (3 alternative TSS)

Promoter ID	TPM avg	Samples expressed
61172	16.3019	1804
61173	2.5299	1299
61171	1.3738	740

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
germinal epithelium of ovary	UBERON:0001304	95.51	gold quality
mammary duct	UBERON:0001765	95.16	gold quality
cauda epididymis	UBERON:0004360	95.07	gold quality
adult organism	UBERON:0007023	94.93	gold quality
caput epididymis	UBERON:0004358	94.78	gold quality
endothelial cell	CL:0000115	94.51	silver quality
decidua	UBERON:0002450	94.23	gold quality
parietal pleura	UBERON:0002400	94.06	gold quality
bronchial epithelial cell	CL:0002328	93.63	gold quality
tibia	UBERON:0000979	93.48	gold quality
Brodmann (1909) area 23	UBERON:0013554	93.46	gold quality
corpus epididymis	UBERON:0004359	93.29	gold quality
skin of hip	UBERON:0001554	93.27	gold quality
parotid gland	UBERON:0001831	93.22	gold quality
middle temporal gyrus	UBERON:0002771	93.17	gold quality
amniotic fluid	UBERON:0000173	92.62	gold quality
pleura	UBERON:0000977	92.26	gold quality
esophagus squamous epithelium	UBERON:0006920	92.24	gold quality
entorhinal cortex	UBERON:0002728	92.14	gold quality
oral cavity	UBERON:0000167	91.89	gold quality
mammary gland	UBERON:0001911	91.86	gold quality
thoracic mammary gland	UBERON:0005200	91.82	gold quality
upper leg skin	UBERON:0004262	91.56	gold quality
superficial temporal artery	UBERON:0001614	91.41	gold quality
trabecular bone tissue	UBERON:0002483	91.41	gold quality
mucosa of paranasal sinus	UBERON:0005030	91.33	gold quality
visceral pleura	UBERON:0002401	91.28	gold quality
palpebral conjunctiva	UBERON:0001812	91.15	gold quality
epithelium of mammary gland	UBERON:0003244	90.77	gold quality
mucosa of sigmoid colon	UBERON:0004993	90.48	gold quality

Single-cell (SCXA)

Detected in 2 experiment(s), a significant marker in 1.

Experiment	Marker?	Max mean expression
E-ANND-3	yes	7.85
E-MTAB-6678	no	3.08

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

145 targeting MTMR12, 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-190A-3P	100.00	80.35	5520
HSA-MIR-5011-5P	100.00	83.46	5820
HSA-MIR-4262	100.00	73.26	3931
HSA-MIR-340-5P	100.00	72.50	4437
HSA-MIR-4668-3P	100.00	68.74	2635
HSA-MIR-4713-3P	100.00	65.92	505
HSA-MIR-1277-5P	100.00	73.95	5056
HSA-MIR-548C-3P	99.99	74.01	7587
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
HSA-MIR-34A-5P	99.99	71.21	1784
HSA-MIR-449A	99.99	71.05	1776
HSA-MIR-3185	99.99	68.12	1959
HSA-MIR-513B-5P	99.99	69.96	2150
HSA-MIR-4500	99.99	72.72	2367
HSA-MIR-520D-5P	99.98	73.34	4883
HSA-MIR-524-5P	99.98	73.43	4882
HSA-LET-7F-2-3P	99.98	70.98	2588
HSA-MIR-1185-1-3P	99.98	71.04	2593
HSA-MIR-1185-2-3P	99.98	71.04	2593
HSA-MIR-19A-3P	99.98	75.33	2762
HSA-MIR-19B-3P	99.98	75.44	2754
HSA-MIR-12136	99.98	72.81	5713
HSA-MIR-4482-3P	99.98	72.50	3147
HSA-MIR-23B-5P	99.98	66.07	587
HSA-MIR-607	99.97	73.62	5593
HSA-MIR-512-3P	99.97	67.35	1049
HSA-MIR-34C-5P	99.97	70.45	1577

Literature-anchored findings (GeneRIF, showing 3)

• Identification of myotubularin as the lipid phosphatase catalytic subunit associated with the 3-phosphatase adapter protein, 3-PAP. (PMID:12847286)
• This study does not support the association of PDZD2, GOLPH3, and MTMR12 genes with schizophrenia. (PMID:21451436)
• Analysis of human XLMTM patient myotubes showed that mutations that disrupt the interaction between myotubularin and MTMR12 proteins result in reduction of both myotubularin and MTMR12 (PMID:23818870)

Cross-species orthologs

15 orthologs

Organism	Symbol	Gene ID
danio_rerio	mtmr12	ENSDARG00000059817
mus_musculus	Mtmr12	ENSMUSG00000039458
rattus_norvegicus	Mtmr12	ENSRNOG00000022929
drosophila_melanogaster	mtm	FBGN0025742
drosophila_melanogaster	Sbf	FBGN0025802
drosophila_melanogaster	Mtmr6	FBGN0028497
drosophila_melanogaster	CG14411	FBGN0030582
drosophila_melanogaster	CG3632	FBGN0030735
drosophila_melanogaster	CG5026	FBGN0035945
caenorhabditis_elegans	mtm-1	WBGENE00003475
caenorhabditis_elegans		WBGENE00003476
caenorhabditis_elegans		WBGENE00003477
caenorhabditis_elegans		WBGENE00003478
caenorhabditis_elegans		WBGENE00003479
caenorhabditis_elegans	mtm-10	WBGENE00021683

Paralogs (13): MTMR7 (ENSG00000003987), MTMR11 (ENSG00000014914), MTMR1 (ENSG00000063601), MTMR2 (ENSG00000087053), SBF1 (ENSG00000100241), MTMR3 (ENSG00000100330), MTMR8 (ENSG00000102043), MTMR9 (ENSG00000104643), MTMR4 (ENSG00000108389), SBF2 (ENSG00000133812), MTMR6 (ENSG00000139505), MTMR10 (ENSG00000166912), MTM1 (ENSG00000171100)

Protein

Protein identifiers

Myotubularin-related protein 12 — Q9C0I1 (reviewed: Q9C0I1)

Alternative names: Inactive phosphatidylinositol 3-phosphatase 12, Phosphatidylinositol 3 phosphate 3-phosphatase adapter subunit

All UniProt accessions (3): Q9C0I1, D6RE76, D6RHK0

UniProt curated annotations — full annotation on UniProt →

Function. Acts as an adapter for the myotubularin-related phosphatases. Regulates phosphatase MTM1 protein stability and possibly its intracellular location. By stabilizing MTM1 protein levels, required for skeletal muscle maintenance but not for myogenesis.

Subunit / interactions. Heterodimer with lipid phosphatase MTM1. Heterodimer with lipid phosphatase MTMR2.

Subcellular location. Cytoplasm. Sarcoplasmic reticulum. Myofibril. Sarcomere.

Tissue specificity. Expressed in skeletal muscles (at protein level). Ubiquitous with prominent expression in brain, heart, kidney, placenta, and lung.

Similarity. Belongs to the protein-tyrosine phosphatase family. Non-receptor class myotubularin subfamily.

Isoforms (3)

UniProt ID	Names	Canonical?
Q9C0I1-1	1	yes
Q9C0I1-2	2
Q9C0I1-3	3

RefSeq proteins (3): NP_001035536, NP_001281272, NP_001281273 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR010569	Myotubularin-like_Pase_dom	Domain
IPR011993	PH-like_dom_sf	Homologous_superfamily
IPR022587	MTMR12-like_C	Domain
IPR029021	Prot-tyrosine_phosphatase-like	Homologous_superfamily
IPR030564	Myotubularin	Family
IPR030576	MTMR12_PTP	Domain

Pfam: PF06602, PF12578

Enzyme classification (BRENDA):

• EC 3.1.3.64 — phosphatidylinositol-3-phosphatase (BRENDA: 10 organisms, 32 substrates, 7 inhibitors, 2 Km, 0 kcat entries)

Substrate kinetics (BRENDA)

1 substrates with measured Km, best-characterized 1. Km ranges are aggregated across organisms/conditions.

Substrate	Km (mM)	Measurements
INOSITOL 1,3-BISPHOSPHATE	0.0008–0.0037	2

UniProt features (10 total): modified residue 3, splice variant 2, sequence conflict 2, chain 1, domain 1, region of interest 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9C0I1-F1	77.68	0.52

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): 564, 601, 716

Function

Pathways and Gene Ontology

Reactome pathways

5 pathways

ID	Pathway
R-HSA-1660516	Synthesis of PIPs at the early endosome membrane
R-HSA-1430728	Metabolism
R-HSA-1483255	PI Metabolism
R-HSA-1483257	Phospholipid metabolism
R-HSA-556833	Metabolism of lipids

MSigDB gene sets: 150 (showing top): GSE45365_NK_CELL_VS_CD8A_DC_MCMV_INFECTION_DN, MODULE_255, ATACCTC_MIR202, AAGCCAT_MIR135A_MIR135B, MODULE_317, TATTATA_MIR374, CREIGHTON_ENDOCRINE_THERAPY_RESISTANCE_5, URS_ADIPOCYTE_DIFFERENTIATION_UP, RGAGGAARY_PU1_Q6, TGCCTTA_MIR124A, MASSARWEH_TAMOXIFEN_RESISTANCE_UP, MODULE_69, GOCC_SARCOPLASM, GEORGES_TARGETS_OF_MIR192_AND_MIR215, ETS_Q4

GO Biological Process (0):

GO Molecular Function (1): protein binding (GO:0005515)

GO Cellular Component (5): cytoplasm (GO:0005737), cytosol (GO:0005829), membrane (GO:0016020), sarcoplasmic reticulum (GO:0016529), sarcomere (GO:0030017)

Reactome top-level categories

Rollup of top-4 pathways:

Category	Pathways
PI Metabolism	1
Phospholipid metabolism	1
Metabolism of lipids	1
Metabolism	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	4
binding	1
intracellular anatomical structure	1
cytoplasm	1
endoplasmic reticulum	1
sarcoplasm	1
myofibril	1

Protein interactions and networks

STRING

959 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
MTMR12	PIK3C3	Q8NEB9	686
MTMR12	MTMR2	Q13614	589
MTMR12	ANKRD62	A6NC57	573
MTMR12	EEF2KMT	Q96G04	524
MTMR12	KMT2A	Q03164	491
MTMR12	MTMR14	Q8NCE2	490
MTMR12	MTMR11	A4FU01	479
MTMR12	ZFR	Q96KR1	467
MTMR12	PIK3R1	P27986	442
MTMR12	SBF1	O95248	430
MTMR12	MTMR10	Q9NXD2	429
MTMR12	VSTM5	A8MXK1	421
MTMR12	STAG3	Q9UJ98	410
MTMR12	PDZK1	Q5T2W1	406
MTMR12	PTEN	P60484	388

IntAct

27 interactions, top by confidence:

A	B	Type	Score
YWHAB	PIK3C2A	psi-mi:“MI:0914”(association)	0.800
MTMR2	CCDC22	psi-mi:“MI:0914”(association)	0.730
MTMR12	MTMR2	psi-mi:“MI:0407”(direct interaction)	0.690
YWHAG	BLTP3B	psi-mi:“MI:0914”(association)	0.640
YWHAB	BLTP3B	psi-mi:“MI:0914”(association)	0.610
YWHAE	PIK3C2A	psi-mi:“MI:0914”(association)	0.570
YWHAH	BLTP3B	psi-mi:“MI:0914”(association)	0.570
YWHAZ	PIK3C2A	psi-mi:“MI:0914”(association)	0.570
MTM1	MTMR12	psi-mi:“MI:0915”(physical association)	0.570
MTMR12	MTM1	psi-mi:“MI:0915”(physical association)	0.570
MTM1	MTMR12	psi-mi:“MI:0407”(direct interaction)	0.570
MTM1	MTMR12	psi-mi:“MI:0403”(colocalization)	0.570
pipB2	groEL	psi-mi:“MI:0914”(association)	0.460
MTMR12	MTMR12	psi-mi:“MI:0407”(direct interaction)	0.440
MTMR12	HAUS8	psi-mi:“MI:0915”(physical association)	0.400
Mtmr2	SBF1	psi-mi:“MI:0914”(association)	0.350
M		psi-mi:“MI:0914”(association)	0.350
CUL4B	GGTLC3	psi-mi:“MI:0914”(association)	0.350
SFN	ANKRD17	psi-mi:“MI:0914”(association)	0.350
YWHAQ	MCRIP1	psi-mi:“MI:0914”(association)	0.350
MTMR2	LUC7L3	psi-mi:“MI:0914”(association)	0.350
S100B	PLEKHG3	psi-mi:“MI:0914”(association)	0.350
CGA	TRIO	psi-mi:“MI:0914”(association)	0.350
SLC18A2	LGALS8	psi-mi:“MI:0914”(association)	0.350
DISC1	MTMR12	psi-mi:“MI:0915”(physical association)	0.000
MTMR12	pyrG	psi-mi:“MI:0915”(physical association)	0.000

BioGRID (55): MTMR12 (Co-fractionation), MTMR12 (Co-fractionation), MTMR12 (Co-fractionation), NPLOC4 (Co-fractionation), MTMR12 (Affinity Capture-MS), MTMR12 (Affinity Capture-MS), MTMR12 (Affinity Capture-MS), THEM6 (Affinity Capture-MS), AKR7A2 (Affinity Capture-MS), VAPB (Affinity Capture-MS), SCO2 (Affinity Capture-MS), NDUFA13 (Affinity Capture-MS), NPPC (Affinity Capture-MS), VAPA (Affinity Capture-MS), TIMM21 (Affinity Capture-MS)

ESM2 similar proteins: A1L3F5, A2RT67, A2RUS2, A4D1U4, B1H2P5, D3ZXK7, D4ACE5, E7F240, F1MDL2, F1QEB7, F1R7R1, H2LP95, O75161, O94967, P48553, P59240, Q059U7, Q0PGW2, Q28DH9, Q3TLI0, Q3U0J8, Q3UHG7, Q4R5A4, Q5FVM6, Q5JPI3, Q5M7Q1, Q5M9F0, Q5R989, Q5RC14, Q5XPI3, Q5XPI4, Q5ZJK1, Q6DDX8, Q6NXD8, Q6VNB8, Q7TSG1, Q80TA6, Q8CGF6, Q8IY22, Q8IZQ1

Diamond homologs: A0JMF6, A2BGG1, A4FU01, O95248, Q13615, Q3V1L6, Q5FVM6, Q5PQT2, Q5R989, Q5U581, Q6NU08, Q6XHA7, Q6ZPE2, Q7TPM9, Q80TA6, Q8K296, Q9C0I1, Q9NXD2, A0A0G2JXT6, A6QLT4, E9PXF8, Q22712, Q5R6F6, Q6NTN5, Q7ZXF1, Q86WG5, Q91XS1, Q96EF0, Q9NYA4, Q9TXP3, Q9Y216, Q9Z2C9, G2WWH6, G5ED68, I1RQE2, Q55E58, Q5F452, Q63312, Q6NXD8, Q6PDH0

SIGNOR signaling

0 interactions.

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 31 IntAct physical interaction partners (hypergeometric vs the genome-wide background, BH-FDR, gene-set size 15–500, ranked by fold). A functional readout of the neighbourhood — distinct from this gene’s own memberships above, and biased toward well-studied / hub proteins, so read it as themes rather than proof.

Reactome pathways:

Pathway	Partners	Fold	FDR
Activation of BAD and translocation to mitochondria	7	242.2×	2e-14
Chk1/Chk2(Cds1) mediated inactivation of Cyclin B:Cdk1 complex	7	213.7×	3e-14
SARS-CoV-1 targets host intracellular signalling and regulatory pathways	7	213.7×	3e-14
Activation of BH3-only proteins	7	158.0×	3e-13
RHO GTPases activate PKNs	7	100.9×	9e-12
Intrinsic Pathway for Apoptosis	7	93.2×	1e-11
FOXO-mediated transcription	5	76.3×	5e-08
SARS-CoV-1-host interactions	7	55.9×	5e-10

GO biological processes:

GO term	Partners	Fold	FDR
protein targeting	5	70.5×	1e-06
intracellular protein localization	7	28.2×	9e-07

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	63
Likely benign	1
Benign	2

Top pathogenic / likely-pathogenic (0)

SpliceAI

3445 predictions. Top by Δscore:

Variant	Effect	Δscore
5:32230348:C:CC	acceptor_gain	1.0000
5:32230349:T:C	acceptor_gain	1.0000
5:32230350:T:C	acceptor_gain	1.0000
5:32233771:A:AC	donor_gain	1.0000
5:32233772:C:CC	donor_gain	1.0000
5:32238996:CTCA:C	donor_loss	1.0000
5:32238997:TCAC:T	donor_loss	1.0000
5:32238998:CA:C	donor_loss	1.0000
5:32238999:ACCT:A	donor_gain	1.0000
5:32239000:CCT:C	donor_gain	1.0000
5:32239000:CCTC:C	donor_gain	1.0000
5:32239002:T:TA	donor_gain	1.0000
5:32239133:C:CT	acceptor_gain	1.0000
5:32239134:A:T	acceptor_gain	1.0000
5:32239187:C:T	acceptor_gain	1.0000
5:32239188:A:T	acceptor_gain	1.0000
5:32239191:A:T	acceptor_gain	1.0000
5:32239193:CAG:C	acceptor_gain	1.0000
5:32239194:A:T	acceptor_gain	1.0000
5:32239195:G:GC	acceptor_gain	1.0000
5:32239198:C:CT	acceptor_gain	1.0000
5:32239199:A:T	acceptor_gain	1.0000
5:32248046:T:TA	donor_gain	1.0000
5:32248125:TT:T	acceptor_gain	1.0000
5:32248127:C:CC	acceptor_gain	1.0000
5:32248768:TGA:T	donor_loss	1.0000
5:32248769:GA:G	donor_loss	1.0000
5:32248770:A:AT	donor_loss	1.0000
5:32248770:AC:A	donor_gain	1.0000
5:32248771:CC:C	donor_gain	1.0000

AlphaMissense

4978 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
5:32239066:A:G	W427R	0.999
5:32239066:A:T	W427R	0.999
5:32270866:C:G	R147P	0.999
5:32271850:A:T	V114D	0.999
5:32274041:A:G	L75P	0.999
5:32274041:A:T	L75H	0.999
5:32312779:G:C	F20L	0.999
5:32312779:G:T	F20L	0.999
5:32312781:A:G	F20L	0.999
5:32243564:A:G	W353R	0.998
5:32243564:A:T	W353R	0.998
5:32268781:A:C	I168R	0.998
5:32268781:A:T	I168K	0.998
5:32268790:A:T	V165D	0.998
5:32270854:A:G	F151S	0.998
5:32270877:G:C	C143W	0.998
5:32270884:A:T	I141N	0.998
5:32270890:A:G	L139P	0.998
5:32274036:A:G	C77R	0.998
5:32230107:A:G	W639R	0.997
5:32230107:A:T	W639R	0.997
5:32242119:A:G	L370P	0.997
5:32268784:C:T	G167D	0.997
5:32270879:A:G	C143R	0.997
5:32274034:G:C	C77W	0.997
5:32274041:A:C	L75R	0.997
5:32233883:A:G	W522R	0.996
5:32233883:A:T	W522R	0.996
5:32239035:C:G	R437P	0.996
5:32239103:T:A	R414S	0.996

dbSNP variants (sampled 300 via entrez): RS1000010433 (5:32292771 C>A,T), RS1000037495 (5:32304787 C>T), RS1000072264 (5:32267729 C>T), RS1000075616 (5:32307711 A>G), RS1000094659 (5:32276967 C>T), RS1000105164 (5:32226830 T>C), RS1000120341 (5:32299081 A>G), RS1000128764 (5:32267161 A>C,G), RS1000133126 (5:32226587 A>G), RS1000164505 (5:32302287 A>G), RS1000215001 (5:32261723 C>A,G), RS1000246126 (5:32261302 C>G), RS1000271081 (5:32301668 A>G), RS1000281653 (5:32231034 T>A,C), RS1000315246 (5:32274479 T>A,C)

Disease associations

OMIM: gene MIM:606501 | 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
GCST002868_3	Response to serotonin reuptake inhibitors in major depressive disorder	8.000000e-07

EFO canonical traits (1, from GWAS)

EFO ID	Trait name
EFO:0005658	response to selective serotonin reuptake inhibitor

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

PharmGKB variants

1 variants.

Variant	Genes	Level	Score	#Clin annots	Drugs
rs73069924	MTMR12		0.00	0

CTD chemical–gene interactions

27 total (human), top 27 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
bisphenol A	decreases methylation, affects cotreatment, increases expression	2
7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide	affects expression, decreases expression	2
FR900359	decreases phosphorylation	1
bisphenol F	affects cotreatment, increases expression	1
triphenyl phosphate	affects expression	1
aflatoxin B2	decreases methylation	1
di-n-butylphosphoric acid	affects expression	1
CGP 52608	affects binding, increases reaction	1
abrine	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
Sunitinib	increases expression	1
Air Pollutants	decreases expression, increases abundance	1
Arsenic	affects methylation	1
Benzo(a)pyrene	affects methylation	1
Caffeine	decreases phosphorylation	1
Dexamethasone	affects cotreatment, increases expression	1
Dietary Carbohydrates	decreases expression	1
Doxorubicin	decreases expression	1
Indomethacin	affects cotreatment, increases expression	1
Phthalic Acids	increases methylation	1
Quercetin	decreases phosphorylation	1
Tetrachlorodibenzodioxin	affects expression	1
Tobacco Smoke Pollution	increases expression	1
Valproic Acid	affects expression	1
1-Methyl-3-isobutylxanthine	affects cotreatment, increases expression	1
Lactic Acid	decreases expression	1
Particulate Matter	increases abundance, decreases expression	1

Clinical trials (associated diseases)

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