IMMP2L

Summary

IMMP2L (inner mitochondrial membrane peptidase subunit 2, HGNC:14598) is a protein-coding gene on chromosome 7q31.1, encoding Mitochondrial inner membrane protease subunit 2 (Q96T52). Catalyzes the removal of transit peptides required for the targeting of proteins from the mitochondrial matrix, across the inner membrane, into the inter-membrane space.

This gene encodes a protein involved in processing the signal peptide sequences used to direct mitochondrial proteins to the mitochondria. The encoded protein resides in the mitochondria and is one of the necessary proteins for the catalytic activity of the mitochondrial inner membrane peptidase (IMP) complex. Two variants that encode the same protein have been described for this gene.

Source: NCBI Gene 83943 — RefSeq curated summary.

At a glance

• Gene–disease (curated): autism (Limited, GenCC)
• GWAS associations: 22
• Clinical variants (ClinVar): 149 total — 1 pathogenic
• Dosage sensitivity (ClinGen): haploinsufficiency dosage sensitivity unlikely, triplosensitivity no evidence
• MANE Select transcript: NM_032549

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:14598
Approved symbol	IMMP2L
Name	inner mitochondrial membrane peptidase subunit 2
Location	7q31.1
Locus type	gene with protein product
Status	Approved
Aliases	IMP2
Ensembl gene	ENSG00000184903
Ensembl biotype	protein_coding
OMIM	605977
Entrez	83943

Gene structure

Transcript identifiers

Ensembl transcripts: 10 — 7 protein_coding, 3 protein_coding_CDS_not_defined

ENST00000331762, ENST00000405709, ENST00000437687, ENST00000447215, ENST00000450877, ENST00000452753, ENST00000452895, ENST00000487733, ENST00000489381, ENST00000492938

RefSeq mRNA: 8 — MANE Select: NM_032549 NM_001244606, NM_001350959, NM_001350960, NM_001350961, NM_001350962, NM_001350963, NM_001350964, NM_032549

CCDS: CCDS5753, CCDS87540

Canonical transcript exons

ENST00000405709 — 6 exons

Exon	Start	End
ENSE00001318331	110886593	110886695
ENSE00001558683	111561851	111562492
ENSE00001561989	110662644	110663721
ENSE00003513263	111487238	111487341
ENSE00003587841	111521313	111521449
ENSE00003687376	110963500	110963565

Expression profiles

Bgee: expression breadth ubiquitous, 223 present calls, max score 93.52.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 4.9174 / max 173.7446, expressed in 1623 samples.

FANTOM5 promoters (6 alternative TSS)

Promoter ID	TPM avg	Samples expressed
85719	4.1633	1589
85708	0.3734	115
85707	0.1994	63
85710	0.1437	65
85709	0.0288	11
85711	0.0087	1

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
tibialis anterior	UBERON:0001385	93.52	silver quality
deltoid	UBERON:0001476	92.95	silver quality
calcaneal tendon	UBERON:0003701	92.63	gold quality
kidney epithelium	UBERON:0004819	91.00	silver quality
quadriceps femoris	UBERON:0001377	90.62	silver quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	90.52	gold quality
vastus lateralis	UBERON:0001379	90.46	silver quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	90.35	gold quality
skeletal muscle tissue of biceps brachii	UBERON:0004502	90.13	gold quality
adult mammalian kidney	UBERON:0000082	90.11	gold quality
left ventricle myocardium	UBERON:0006566	90.07	gold quality
popliteal artery	UBERON:0002250	90.04	gold quality
tibial artery	UBERON:0007610	90.04	gold quality
cardiac muscle of right atrium	UBERON:0003379	89.86	gold quality
skeletal muscle tissue	UBERON:0001134	89.74	gold quality
pigmented layer of retina	UBERON:0001782	89.51	gold quality
sural nerve	UBERON:0015488	89.39	gold quality
muscle tissue	UBERON:0002385	89.30	gold quality
biceps brachii	UBERON:0001507	89.24	gold quality
germinal epithelium of ovary	UBERON:0001304	89.12	silver quality
right coronary artery	UBERON:0001625	89.08	gold quality
islet of Langerhans	UBERON:0000006	88.97	gold quality
muscle of leg	UBERON:0001383	88.73	gold quality
aorta	UBERON:0000947	88.71	gold quality
gastrocnemius	UBERON:0001388	88.56	gold quality
kidney	UBERON:0002113	88.37	gold quality
colonic epithelium	UBERON:0000397	88.16	gold quality
hindlimb stylopod muscle	UBERON:0004252	87.84	gold quality
left coronary artery	UBERON:0001626	87.53	gold quality
left ovary	UBERON:0002119	87.47	gold quality

Single-cell (SCXA)

Detected in 3 experiment(s), a significant marker in 3.

Experiment	Marker?	Max mean expression
E-CURD-119	yes	44.88
E-HCAD-35	yes	7.53
E-ANND-3	no	0.00

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

52 targeting IMMP2L, 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-200B-3P	100.00	73.31	2693
HSA-MIR-200C-3P	100.00	73.35	2685
HSA-MIR-429	100.00	73.44	2698
HSA-MIR-6748-5P	100.00	65.81	1057
HSA-MIR-29A-3P	100.00	73.11	1835
HSA-MIR-29B-3P	100.00	73.18	1833
HSA-MIR-29C-3P	100.00	73.15	1833
HSA-MIR-5692B	100.00	71.32	2622
HSA-MIR-5692C	100.00	71.32	2622
HSA-MIR-511-3P	99.99	68.85	1467
HSA-MIR-4775	99.98	75.00	6394
HSA-MIR-302C-5P	99.97	72.56	3642
HSA-MIR-3143	99.93	71.96	3104
HSA-MIR-7-1-3P	99.91	71.53	4384
HSA-MIR-7-2-3P	99.91	71.40	4394
HSA-MIR-153-5P	99.89	73.86	6317
HSA-MIR-380-3P	99.89	70.18	1978
HSA-MIR-369-3P	99.85	70.52	2264
HSA-MIR-6875-3P	99.82	70.26	2983
HSA-MIR-655-3P	99.80	72.19	2909
HSA-MIR-3617-5P	99.75	69.41	1968
HSA-MIR-641	99.75	69.35	1975
HSA-MIR-4446-5P	99.72	69.19	2544
HSA-MIR-4755-5P	99.71	70.34	2716
HSA-MIR-5006-3P	99.71	70.26	2728
HSA-MIR-1208	99.70	68.28	1533
HSA-MIR-379-3P	99.69	69.60	1524
HSA-MIR-411-3P	99.69	69.63	1524
HSA-MIR-4527	99.66	67.43	714
HSA-MIR-452-5P	99.65	69.63	1762

Functional genomics

ClinGen dosage: haploinsufficiency 40 (dosage sensitivity unlikely), triplosensitivity 0 (no evidence). ClinGen Gene Dosage Map

Literature-anchored findings (GeneRIF, showing 10)

• AUTS1/AUTS5 linkage to immp2l-dock4 may be involved in autism susceptibility (PMID:19401682)
• Five genes have been directly disrupted in Tourette Syndrome by independent genomic rearrangements and copy number variations with unique breakpoints. (PMID:22948383)
• genomic rearrangements affecting IMMP2L may be one of the predisposing factors involved in Tourette syndrome and overlapping neurodevelopmental disorders. (PMID:24549057)
• Chromosomal breakpoints involved the IMMP2L gene in 7q31 is associated with Diffuse Large B-Cell Lymphomas. (PMID:27356265)
• IMMP2L transcription requires Topoisomerase I in human primary astrocytes (PMID:27932244)
• Deficiency of IMMP2L in cells cultured under hypoxia and high glucose, exacerbated neuronal death. (PMID:28316022)
• While the IMMP2L deletions carried non-recurrent breakpoints, in contrast to previous reports, meta-analysis found no evidence of association (P > 0.05) between IMMP2L deletions and ASD. We also observed common exonic deletions impacting IMMP2L in a separate control (5,971 samples) cohort where subjects were screened for psychiatric conditions. (PMID:29152845)
• data would indicate that deletions involving the IMMP2L gene may contribute to the development of a subgroup of cognitive/behavioral disorders (PMID:29788020)
• Differential DNA Methylation of the IMMP2L Gene in Families with Maternally Inherited 7q31.1 Microdeletions is Associated with Intellectual Disability and Developmental Delay. (PMID:33849037)
• Exonic deletions in IMMP2L in schizophrenia with enhanced glycation stress subtype. (PMID:35776734)

Cross-species orthologs

5 orthologs

Organism	Symbol	Gene ID
danio_rerio	immp2l	ENSDARG00000004925
mus_musculus	Immp2l	ENSMUSG00000056899
rattus_norvegicus	Immp2l	ENSRNOG00000067070
drosophila_melanogaster	CG11110	FBGN0034535
caenorhabditis_elegans		WBGENE00021925

Paralogs (1): IMMP1L (ENSG00000148950)

Protein

Protein identifiers

Mitochondrial inner membrane protease subunit 2 — Q96T52 (reviewed: Q96T52)

Alternative names: IMP2-like protein

All UniProt accessions (5): A0A0C4DG32, A4D0S9, C9JQE1, C9JVB0, Q96T52

UniProt curated annotations — full annotation on UniProt →

Function. Catalyzes the removal of transit peptides required for the targeting of proteins from the mitochondrial matrix, across the inner membrane, into the inter-membrane space. Known to process the nuclear encoded protein DIABLO.

Subunit / interactions. Heterodimer of 2 subunits, IMMPL1 and IMMPL2.

Subcellular location. Mitochondrion inner membrane.

Tissue specificity. Expressed in all tissues tested except adult liver and lung.

Disease relevance. Gilles de la Tourette syndrome (GTS) [MIM:137580] Neurologic disorder manifested particularly by motor and vocal tics and associated with behavioral abnormalities. The disease may be caused by variants affecting the gene represented in this entry.

Similarity. Belongs to the peptidase S26 family. IMP2 subfamily.

Isoforms (2)

UniProt ID	Names	Canonical?
Q96T52-1	1	yes
Q96T52-2	2

RefSeq proteins (8): NP_001231535, NP_001337888, NP_001337889, NP_001337890, NP_001337891, NP_001337892, NP_001337893, NP_115938* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR000223	Pept_S26A_signal_pept_1	Family
IPR019533	Peptidase_S26	Domain
IPR019758	Pept_S26A_signal_pept_1_CS	Conserved_site
IPR036286	LexA/Signal_pep-like_sf	Homologous_superfamily
IPR037730	IMP2	Family

Pfam: PF10502

UniProt features (6 total): active site 2, splice variant 2, chain 1, transmembrane region 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q96T52-F1	87.66	0.59

Functional residue map

Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.

Catalytic / active sites (2): 43; 91

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 187 (showing top): GOBP_CIRCULATORY_SYSTEM_PROCESS, GOBP_MITOCHONDRIAL_RESPIRATORY_CHAIN_COMPLEX_ASSEMBLY, GOBP_PROTEIN_TARGETING, GOBP_SUPEROXIDE_METABOLIC_PROCESS, FOXO4_01, GOBP_MALE_GAMETE_GENERATION, GOBP_ESTABLISHMENT_OF_PROTEIN_LOCALIZATION_TO_ORGANELLE, GOBP_GENERATION_OF_PRECURSOR_METABOLITES_AND_ENERGY, GOBP_OVARIAN_FOLLICLE_DEVELOPMENT, GOBP_PROTEIN_MATURATION, MARTINEZ_RB1_TARGETS_DN, GOBP_REPRODUCTIVE_SYSTEM_DEVELOPMENT, SHETH_LIVER_CANCER_VS_TXNIP_LOSS_PAM4, GOBP_OVULATION, GOBP_ELECTRON_TRANSPORT_CHAIN

GO Biological Process (13): ovarian follicle development (GO:0001541), obsolete signal peptide processing (GO:0006465), obsolete protein processing involved in protein targeting to mitochondrion (GO:0006627), superoxide metabolic process (GO:0006801), DNA damage response (GO:0006974), spermatogenesis (GO:0007283), brain development (GO:0007420), blood circulation (GO:0008015), respiratory electron transport chain (GO:0022904), ovulation (GO:0030728), mitochondrial respiratory chain complex assembly (GO:0033108), cerebellum vasculature development (GO:0061300), proteolysis (GO:0006508)

GO Molecular Function (6): endopeptidase activity (GO:0004175), serine-type endopeptidase activity (GO:0004252), peptidase activity (GO:0008233), protein binding (GO:0005515), serine-type peptidase activity (GO:0008236), hydrolase activity (GO:0016787)

GO Cellular Component (6): mitochondrion (GO:0005739), mitochondrial inner membrane (GO:0005743), mitochondrial inner membrane peptidase complex (GO:0042720), membrane (GO:0016020), membrane protein complex (GO:0098796), serine-type endopeptidase complex (GO:1905370)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
peptidase activity	2
female gonad development	1
anatomical structure development	1
reactive oxygen species metabolic process	1
cellular response to stress	1
developmental process involved in reproduction	1
male gamete generation	1
central nervous system development	1
animal organ development	1
head development	1
circulatory system process	1
electron transport chain	1
cellular respiration	1
female gamete generation	1
multicellular organismal reproductive process	1
mitochondrion	1
mitochondrion organization	1
protein-containing complex assembly	1
vasculature development	1
protein metabolic process	1
endopeptidase activity	1
serine-type peptidase activity	1
hydrolase activity	1
catalytic activity, acting on a protein	1
binding	1
serine hydrolase activity	1
catalytic activity	1
cytoplasm	1
intracellular membrane-bounded organelle	1
organelle inner membrane	1
mitochondrial membrane	1
inner mitochondrial membrane protein complex	1
serine-type endopeptidase complex	1
cellular anatomical structure	1
membrane	1
protein-containing complex	1
serine-type peptidase complex	1
endopeptidase complex	1

Protein interactions and networks

STRING

1560 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
IMMP2L	SLITRK1	Q96PX8	803
IMMP2L	DIABLO	Q9NR28	777
IMMP2L	CNTNAP2	Q9UHC6	776
IMMP2L	HDC	P19113	703
IMMP2L	TBCD	Q9BTW9	662
IMMP2L	SLITRK2	Q9H156	647
IMMP2L	NPTX1	Q15818	637
IMMP2L	MIPEP	Q99797	625
IMMP2L	DOCK4	Q8N1I0	612
IMMP2L	SLC35F2	Q8IXU6	598
IMMP2L	XPNPEP3	Q9NQH7	587
IMMP2L	PMPCA	Q10713	575
IMMP2L	DOP1B	Q9Y3R5	557
IMMP2L	CYC1	P08574	534
IMMP2L	TRMT11	Q7Z4G4	529

IntAct

10 interactions, top by confidence:

A	B	Type	Score
SPDEF	IMMP2L	psi-mi:“MI:0915”(physical association)	0.400
IMMP2L	ANKHD1-EIF4EBP3	psi-mi:“MI:0914”(association)	0.350
CA14	ORC4	psi-mi:“MI:0914”(association)	0.350
AFG2A	ESYT2	psi-mi:“MI:0914”(association)	0.350
AFG2B	MMP24OS	psi-mi:“MI:0914”(association)	0.350
IMMP2L	MRPL45	psi-mi:“MI:2364”(proximity)	0.270
IMMP1L	NUDT19	psi-mi:“MI:2364”(proximity)	0.270
LACTB	NUDT19	psi-mi:“MI:2364”(proximity)	0.270
PARL	HAX1	psi-mi:“MI:2364”(proximity)	0.270

BioGRID (405): IMMP2L (Affinity Capture-RNA), IMMP2L (Proximity Label-MS), IMMP2L (Proximity Label-MS), IMMP2L (Proximity Label-MS), IMMP2L (Proximity Label-MS), COX15 (Proximity Label-MS), IMMT (Proximity Label-MS), CLPB (Proximity Label-MS), ADCK2 (Proximity Label-MS), ACOT1 (Proximity Label-MS), IARS2 (Proximity Label-MS), SHMT2 (Proximity Label-MS), SLC25A12 (Proximity Label-MS), SAMM50 (Proximity Label-MS), COX4I1 (Proximity Label-MS)

ESM2 similar proteins: A2AIG8, B2GV54, O35083, O73884, O75078, P16152, P35790, P54797, P58058, Q01134, Q08DW9, Q1JQE6, Q2HJ19, Q2KI92, Q3ZCD7, Q4R766, Q5E9H2, Q5E9T4, Q5EA19, Q5PQ63, Q5R890, Q5R8Y5, Q5RCU5, Q5XIJ5, Q5ZIN0, Q64232, Q6AYT7, Q6AZD4, Q6ICL3, Q6PIU2, Q8BGR6, Q8BLF1, Q8BPT6, Q8BZI6, Q8N2K0, Q8NBA8, Q8VDI9, Q95JH0, Q95JH2, Q96GS6

Diamond homologs: O74800, P00803, P0A1W2, P0A1W3, P26844, P28627, P46972, P9WKA0, P9WKA1, Q28I39, Q2KI92, Q5BIV4, Q5PQ63, Q6AZD4, Q6NLT8, Q89AM6, Q8BPT6, Q96LU5, Q96T52, Q9CQU8, Q9I5G7, Q9UST2, O67088, O04348, P72660, P73157, Q51876, Q84VZ6, Q8H0W1, Q9M9Z2, O33021, O07344, O07560, P59662, P0A067, P0A068, P0A069, P0A070, Q5HHB9, Q6GAW1

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	1
Likely pathogenic	0
Uncertain significance	129
Likely benign	6
Benign	8

Top pathogenic / likely-pathogenic (1)

Variant ID	HGVS	Classification
242956	NC_000007.13:g.109049659_111130658del	Pathogenic

SpliceAI

5423 predictions. Top by Δscore:

Variant	Effect	Δscore
7:110963496:TTA:T	donor_loss	1.0000
7:110963497:TA:T	donor_loss	1.0000
7:110963498:A:AC	donor_gain	1.0000
7:110963498:AC:A	donor_gain	1.0000
7:110963499:C:CA	donor_gain	1.0000
7:110963499:CC:C	donor_gain	1.0000
7:110963499:CCT:C	donor_gain	1.0000
7:110963499:CCTG:C	donor_gain	1.0000
7:110963499:CCTGA:C	donor_gain	1.0000
7:110963561:GAGAC:G	acceptor_gain	1.0000
7:110963562:AGAC:A	acceptor_gain	1.0000
7:110963563:GAC:G	acceptor_gain	1.0000
7:110963564:AC:A	acceptor_gain	1.0000
7:110963564:ACC:A	acceptor_loss	1.0000
7:110963565:CC:C	acceptor_gain	1.0000
7:110963565:CCTA:C	acceptor_loss	1.0000
7:110963566:C:CC	acceptor_gain	1.0000
7:110963566:C:CG	acceptor_loss	1.0000
7:110963572:C:CT	acceptor_gain	1.0000
7:110963573:A:T	acceptor_gain	1.0000
7:111091503:AG:A	donor_gain	1.0000
7:111091504:GG:G	donor_gain	1.0000
7:111091505:G:GG	donor_gain	1.0000
7:111091505:GT:G	donor_loss	1.0000
7:111099857:T:A	acceptor_gain	1.0000
7:111210861:TGA:T	donor_gain	1.0000
7:110663729:CA:C	acceptor_gain	0.9900
7:110663730:A:C	acceptor_gain	0.9900
7:110777101:A:AC	donor_gain	0.9900
7:110777113:T:TA	donor_gain	0.9900

AlphaMissense

0 scored. Top likely-pathogenic:

dbSNP variants (sampled 300 via entrez): RS1000011898 (7:111158274 A>G,T), RS1000020802 (7:111345426 C>G,T), RS1000021661 (7:111444531 G>A), RS1000021810 (7:110894022 T>C), RS1000024307 (7:111011959 C>T), RS1000026903 (7:110845201 G>C), RS1000029019 (7:111294585 G>C), RS1000030769 (7:111095758 A>G,T), RS1000032630 (7:110801461 A>G), RS1000033360 (7:111506035 A>T), RS1000038629 (7:111362001 A>G), RS1000040137 (7:110930508 T>C), RS1000040593 (7:111459459 TAATC>T), RS1000041418 (7:111015608 G>T), RS1000044428 (7:111199912 A>G)

Disease associations

OMIM: gene MIM:605977 | disease phenotypes: MIM:189800, MIM:602081

GenCC curated gene-disease

Disease	Classification	Inheritance
autism	Limited	Autosomal dominant

Mondo (4): preeclampsia (MONDO:0005081), primary ovarian failure (MONDO:0005387), childhood apraxia of speech (MONDO:0011184), autism (MONDO:0005260)

Orphanet (3): Preeclampsia (Orphanet:275555), Isolated childhood apraxia of speech (Orphanet:209908), NON RARE IN EUROPE: Primary ovarian failure (Orphanet:619)

HPO phenotypes

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

GWAS associations

22 associations (top):

Study	Trait	p-value
GCST000477_26	Cognitive performance	3.000000e-06
GCST002539_26	Schizophrenia	4.000000e-08
GCST002539_68	Schizophrenia	3.000000e-13
GCST002813_17	Alzheimer’s disease in APOE e4+ carriers	6.000000e-06
GCST002936_25	Cadmium levels	9.000000e-07
GCST003542_142	Night sleep phenotypes	3.000000e-06
GCST003720_7	Migraine	2.000000e-08
GCST004521_25	Autism spectrum disorder or schizophrenia	2.000000e-11
GCST004946_10	Schizophrenia	8.000000e-13
GCST006803_100	Schizophrenia	5.000000e-11
GCST006803_73	Schizophrenia	2.000000e-09
GCST007201_154	Schizophrenia	5.000000e-12
GCST007201_280	Schizophrenia	5.000000e-12
GCST007201_313	Schizophrenia	1.000000e-08
GCST007201_77	Schizophrenia	5.000000e-11
GCST008103_117	Bipolar disorder	5.000000e-06
GCST008115_25	Bipolar I disorder	2.000000e-07
GCST008595_189	Cognitive ability, years of educational attainment or schizophrenia (pleiotropy)	4.000000e-12
GCST009600_117	Anorexia nervosa, attention-deficit/hyperactivity disorder, autism spectrum disorder, bipolar disorder, major depression, obsessive-compulsive disorder, schizophrenia, or Tourette syndrome (pleiotropy)	6.000000e-11
GCST010989_126	Body size at age 10	5.000000e-08
GCST012046_7	Fasting insulin	6.000000e-07
GCST90026416_15	Mild age-related type 2 diabetes	7.000000e-06

EFO canonical traits (5, from GWAS)

EFO ID	Trait name
EFO:0003926	neuropsychological test
EFO:0009963	bipolar I disorder
EFO:0004337	intelligence
EFO:0004784	self reported educational attainment
EFO:0009819	comparative body size at age 10, self-reported

MeSH disease descriptors (3)

Descriptor	Name	Tree numbers
D001321	Autistic Disorder	F03.625.164.113.500
D011225	Pre-Eclampsia	C12.050.703.395.249
D016649	Primary Ovarian Insufficiency	C12.050.351.500.056.630.750; C12.100.250.056.630.750; C19.391.630.750

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Benzo(a)pyrene	affects methylation, decreases expression, decreases methylation	9
Aflatoxin B1	decreases expression, affects expression	5
lasiocarpine	decreases expression	2
methyleugenol	decreases expression	2
Cisplatin	affects cotreatment, decreases expression	2
N-Nitrosopyrrolidine	decreases expression	2
aristolochic acid I	decreases expression	1
methylmercuric chloride	decreases expression	1
bisphenol A	decreases methylation	1
2,5,2’,5’-tetrachlorobiphenyl	increases expression	1
arsenite	affects binding, increases reaction	1
sodium arsenite	decreases expression	1
perfluorooctanoic acid	increases expression	1
benzo(e)pyrene	decreases methylation	1
aflatoxin B2	increases methylation	1
CGP 52608	affects binding, increases reaction	1
AM 251	increases expression	1
ICG 001	increases expression	1
jinfukang	affects cotreatment, decreases expression	1
Irinotecan	decreases expression	1
Air Pollutants	affects expression, increases abundance	1
alpha-Chlorohydrin	decreases expression	1
Cadmium	increases expression, decreases reaction	1
Carbamazepine	affects expression	1
Ethyl Methanesulfonate	decreases expression	1
Formaldehyde	decreases expression	1
Methapyrilene	decreases methylation	1
Methyl Methanesulfonate	decreases expression	1
Mustard Gas	decreases expression	1
Ozone	affects expression, increases abundance	1

Cellosaurus cell lines

3 cell lines: 2 cancer cell line, 1 transformed cell line

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

Cellosaurus	Name	Category	Sex
CVCL_D9H9	Ubigene HEK293 IMMP2L KO	Transformed cell line	Female
CVCL_SS53	HAP1 IMMP2L (-) 1	Cancer cell line	Male
CVCL_XP80	HAP1 IMMP2L (-) 2	Cancer cell line	Male

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT00211796	PHASE4	COMPLETED	Divalproex Sodium ER in Adult Autism
NCT00391261	PHASE4	COMPLETED	An Open-label Trial of Metformin for Weight Control of Pediatric Patients on Antipsychotic Medications.
NCT00409747	PHASE4	COMPLETED	Minocycline to Treat Childhood Regressive Autism
NCT00576732	PHASE4	COMPLETED	A Study of the Effectiveness and Safety of Two Doses of Risperidone in the Treatment of Children and Adolescents With Autistic Disorder
NCT00844753	PHASE4	COMPLETED	Atomoxetine, Placebo and Parent Management Training in Autism
NCT01028820	PHASE4	COMPLETED	FMRI Brain Activation of Aripiprazole Treatment in Autism Spectrum Disorders
NCT01098383	PHASE4	UNKNOWN	Treatment With Acetyl-Choline Esterase Inhibitors in Children With Autism Spectrum Disorders
NCT01333865	PHASE4	COMPLETED	A Study of Memantine Hydrochloride (Namenda®) for Cognitive and Behavioral Impairment in Adults With Autism Spectrum Disorders
NCT01337700	PHASE4	COMPLETED	Milnacipran in Autism and the Functional Locus Coeruleus and Noradrenergic Model of Autism
NCT01695200	PHASE4	COMPLETED	Omega-3 Fatty Acids in Autism Spectrum Disorders
NCT02069977	PHASE4	UNKNOWN	Study to Evaluate the Efficacy and Safety of Aripiprazole
NCT02096952	PHASE4	COMPLETED	Methylphenidate ER Liquid Formulation in Adults With ASD and ADHD
NCT02199925	PHASE4	UNKNOWN	An Open-Label Study to Evaluate the Efficacy of High-Dose Gammaplex in Children on the Autism Spectrum
NCT02235467	PHASE4	COMPLETED	Multisite Study: Parental Training Using Video Modelling to Develop Social Skills in Children With Autism
NCT02255565	PHASE4	COMPLETED	Dose Response Effects of Quillivant XR in Children With ADHD and Autism: A Pilot Study
NCT02940574	PHASE4	COMPLETED	Neural and Behavioral Effects of Oxytocin in Autism Spectrum Disorders
NCT03333629	PHASE4	COMPLETED	Promoting Positive Outcomes for Individuals With ASD: Linking Early Detection, Treatment, and Long-term Outcomes
NCT03337646	PHASE4	COMPLETED	Evaluation of the Effect and Safety of Lisdexamfetamine in Children Aged 6-12 With ADHD and Autism
NCT03538431	PHASE4	COMPLETED	Improving Driving in Young People With Autism Spectrum Disorders
NCT03757585	PHASE4	COMPLETED	Natural Treatments for the Management of Emotional Dysregulation in Youth With Non-verbal Learning Disability (NVLD) and/or Autism Spectrum Disorders (ASD)
NCT04903353	PHASE4	COMPLETED	Pragmatic Trial Comparing Weight Gain in Children With Autism Taking Risperidone Versus Aripiprazole
NCT05063656	PHASE4	COMPLETED	Biomarker-Driven Pharmacological Treatment of Adolescents With Autism Spectrum Disorder With Gabapentin
NCT05146245	PHASE4	UNKNOWN	Safety and Pharmacokinetics of Antipsychotics in Children 2: Studying TDM in an RCT
NCT05916339	PHASE4	RECRUITING	AWARE: Management of ADHD in Autism Spectrum Disorder
NCT05954052	PHASE4	TERMINATED	A Study of Glutathione in Children With Autism Spectrum Disorder
NCT06853665	PHASE4	RECRUITING	The TEAM Study - Treatment Efficacy for Autism/Attention Using Mixed Amphetamine
NCT07054697	PHASE4	COMPLETED	Pilot-RCT With Individualized Homeopathic Treatment in the Children With Autism Spectrum Disorder
NCT07161804	PHASE4	COMPLETED	Pilot RCT Using Homeopathic Medicines in ASD
NCT07439042	PHASE4	NOT_YET_RECRUITING	Buspirone for Anxiety in Autistic Youth
NCT00117546	PHASE4	UNKNOWN	Cardiovascular and Autonomic Reactivity in Women With a History of Pre-eclampsia
NCT00567957	PHASE4	UNKNOWN	Remifentanil for General Anesthesia in Preeclamptics
NCT01030627	PHASE4	COMPLETED	Treatment Approaches to Preeclampsia
NCT01352234	PHASE4	COMPLETED	Comparison of Doses of Acetylsalicylic Acid in Women With Previous History of Preeclampsia
NCT01361425	PHASE4	UNKNOWN	Anti-Hypertensive Treatment In Stable Pregnant Women With Severe Pre-Eclampsia (Metildopape)
NCT01729468	PHASE4	COMPLETED	Prevention of Pre-eclampsia and SGA by Low-Dose Aspirin in Nulliparous Women With Abnormal First-trimester Uterine Artery Dopplers
NCT01761916	PHASE4	COMPLETED	Clonidine Versus Captopril for Treatment of Postpartum Very High Blood Pressure
NCT01912677	PHASE4	COMPLETED	Oral Antihypertensive Regimens for Management of Hypertension in Pregnancy
NCT02025426	PHASE4	TERMINATED	Phenylephrine Versus Ephedrine in Pre-eclampsia
NCT02091401	PHASE4	COMPLETED	A Trial Comparing Treatment With the Springfusor Infusion Pump to the IV Magnesium Sulfate Regimen
NCT02163655	PHASE4	COMPLETED	Diuretics for Postpartum High Blood Pressure in Preeclampsia