TMEM135

Summary

TMEM135 (transmembrane protein 135, HGNC:26167) is a protein-coding gene on chromosome 11q14.2, encoding Transmembrane protein 135 (Q86UB9). Involved in mitochondrial metabolism by regulating the balance between mitochondrial fusion and fission.

Predicted to enable lipid transporter activity. Predicted to be involved in several processes, including fatty acid derivative transport; fatty acid metabolic process; and long-chain fatty acid transport. Predicted to act upstream of or within several processes, including regulation of oxidative phosphorylation; response to food; and retinal pigment epithelium development. Predicted to be located in peroxisome. Predicted to be active in peroxisomal membrane.

Source: NCBI Gene 65084 — RefSeq curated summary.

At a glance

• Gene–disease (curated): neurodevelopmental disorder (Limited, GenCC)
• GWAS associations: 34
• Clinical variants (ClinVar): 86 total
• Dosage sensitivity (ClinGen): haploinsufficiency no evidence, triplosensitivity no evidence
• MANE Select transcript: NM_022918

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:26167
Approved symbol	TMEM135
Name	transmembrane protein 135
Location	11q14.2
Locus type	gene with protein product
Status	Approved
Aliases	FLJ22104, PMP52
Ensembl gene	ENSG00000166575
Ensembl biotype	protein_coding
OMIM	616360
Entrez	65084

Gene structure

Transcript identifiers

Ensembl transcripts: 22 — 18 protein_coding, 4 retained_intron

ENST00000305494, ENST00000340353, ENST00000525018, ENST00000526733, ENST00000528861, ENST00000529023, ENST00000531643, ENST00000531800, ENST00000532959, ENST00000854940, ENST00000854941, ENST00000854942, ENST00000854943, ENST00000854944, ENST00000854945, ENST00000854946, ENST00000934696, ENST00000934697, ENST00000954969, ENST00000954970, ENST00000954971, ENST00000954972

RefSeq mRNA: 2 — MANE Select: NM_022918 NM_001168724, NM_022918

CCDS: CCDS53692, CCDS8280

Canonical transcript exons

ENST00000305494 — 15 exons

Exon	Start	End
ENSE00001104320	87313425	87313488
ENSE00001104328	87302296	87302442
ENSE00001104334	87236638	87236684
ENSE00001104340	87295782	87295823
ENSE00001104341	87318137	87318235
ENSE00001104345	87305936	87306005
ENSE00001104348	87309505	87309672
ENSE00001104350	87314471	87314547
ENSE00002146331	87037934	87038186
ENSE00003497770	87067694	87067821
ENSE00003500699	87321201	87328824
ENSE00003524054	87091362	87091395
ENSE00003531210	87157341	87157406
ENSE00003636753	87071523	87071615
ENSE00003679067	87319310	87319377

Expression profiles

Bgee: expression breadth ubiquitous, 279 present calls, max score 96.10.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 38.0617 / max 287.6289, expressed in 1815 samples.

FANTOM5 promoters (5 alternative TSS)

Promoter ID	TPM avg	Samples expressed
116141	16.8068	1743
116139	10.9024	1771
116138	7.9411	1644
116140	2.1980	1089
116142	0.2134	61

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
jejunal mucosa	UBERON:0000399	96.10	gold quality
adrenal tissue	UBERON:0018303	95.99	gold quality
calcaneal tendon	UBERON:0003701	95.44	gold quality
pigmented layer of retina	UBERON:0001782	93.49	gold quality
endothelial cell	CL:0000115	92.08	gold quality
duodenum	UBERON:0002114	90.45	gold quality
colonic epithelium	UBERON:0000397	90.06	gold quality
islet of Langerhans	UBERON:0000006	89.47	gold quality
adipose tissue	UBERON:0001013	89.35	gold quality
parietal pleura	UBERON:0002400	89.03	gold quality
connective tissue	UBERON:0002384	88.82	gold quality
thoracic mammary gland	UBERON:0005200	88.60	gold quality
tibia	UBERON:0000979	88.50	gold quality
mammary gland	UBERON:0001911	88.46	gold quality
pericardium	UBERON:0002407	88.22	gold quality
adrenal gland	UBERON:0002369	88.19	gold quality
right adrenal gland cortex	UBERON:0035827	87.95	gold quality
left adrenal gland	UBERON:0001234	87.67	gold quality
choroid plexus epithelium	UBERON:0003911	87.63	gold quality
synovial joint	UBERON:0002217	87.57	gold quality
right adrenal gland	UBERON:0001233	87.53	gold quality
subcutaneous adipose tissue	UBERON:0002190	87.51	gold quality
colonic mucosa	UBERON:0000317	87.18	gold quality
jejunum	UBERON:0002115	87.15	gold quality
adrenal cortex	UBERON:0001235	86.97	gold quality
left adrenal gland cortex	UBERON:0035825	86.90	gold quality
secondary oocyte	CL:0000655	86.49	gold quality
mucosa of sigmoid colon	UBERON:0004993	86.46	gold quality
mammary duct	UBERON:0001765	86.44	gold quality
adipose tissue of abdominal region	UBERON:0007808	86.28	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	6.22

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

304 targeting TMEM135, 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-3163	100.00	77.23	8605
HSA-MIR-3646	100.00	73.56	5283
HSA-MIR-5011-5P	100.00	83.46	5820
HSA-MIR-7110-3P	100.00	73.18	2486
HSA-MIR-3613-3P	100.00	76.36	7965
HSA-MIR-1277-5P	100.00	73.95	5056
HSA-MIR-6873-3P	100.00	71.42	2626
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-5692A	100.00	74.40	6850
HSA-MIR-190A-3P	100.00	80.35	5520
HSA-MIR-4262	100.00	73.26	3931
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-3662	99.99	73.82	5684
HSA-MIR-4282	99.99	75.36	6408
HSA-MIR-196A-1-3P	99.99	72.15	2772
HSA-MIR-4531	99.99	69.70	3181
HSA-MIR-548C-3P	99.99	74.01	7587
HSA-MIR-186-5P	99.99	70.83	3707
HSA-MIR-3185	99.99	68.12	1959
HSA-MIR-4500	99.99	72.72	2367
HSA-MIR-4534	99.99	66.58	1907
HSA-MIR-12136	99.98	72.81	5713
HSA-MIR-4775	99.98	75.00	6394
HSA-MIR-4803	99.98	71.99	3117
HSA-MIR-5696	99.98	72.36	4487
HSA-MIR-103A-3P	99.98	69.14	1595

Functional genomics

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

Literature-anchored findings (GeneRIF, showing 2)

• TMEM135 regulates primary ciliogenesis through modulation of intracellular cholesterol distribution. (PMID:32157776)
• MiR-100-5p inhibits osteogenic differentiation of human bone mesenchymal stromal cells by targeting TMEM135. (PMID:35947339)

Cross-species orthologs

7 orthologs

Organism	Symbol	Gene ID
danio_rerio	tmem135	ENSDARG00000069157
mus_musculus	Tmem135	ENSMUSG00000039428
rattus_norvegicus	Tmem135	ENSRNOG00000016815
drosophila_melanogaster	CG11737	FBGN0037592
drosophila_melanogaster	CG31259	FBGN0051259
drosophila_melanogaster	CG31454	FBGN0051454
caenorhabditis_elegans		WBGENE00019345

Protein

Protein identifiers

Transmembrane protein 135 — Q86UB9 (reviewed: Q86UB9)

Alternative names: Peroxisomal membrane protein 52

All UniProt accessions (4): E9PIS2, E9PJX0, E9PQL0, Q86UB9

UniProt curated annotations — full annotation on UniProt →

Function. Involved in mitochondrial metabolism by regulating the balance between mitochondrial fusion and fission. May act as a regulator of mitochondrial fission that promotes DNM1L-dependent fission through activation of DNM1L. May be involved in peroxisome organization.

Subcellular location. Mitochondrion membrane. Peroxisome membrane.

Similarity. Belongs to the TMEM135 family.

Isoforms (2)

UniProt ID	Names	Canonical?
Q86UB9-1	1	yes
Q86UB9-2	2

RefSeq proteins (2): NP_001162195, NP_075069* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR026749	Tmem135	Family
IPR031926	TMEM135_N	Domain

Pfam: PF02466, PF15982

UniProt features (12 total): transmembrane region 6, sequence variant 3, chain 1, sequence conflict 1, splice variant 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q86UB9-F1	86.37	0.62

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 241 (showing top): GOBP_EPITHELIUM_DEVELOPMENT, TAATAAT_MIR126, FARMER_BREAST_CANCER_CLUSTER_7, GOBP_RESPONSE_TO_COLD, TGCTGCT_MIR15A_MIR16_MIR15B_MIR195_MIR424_MIR497, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_DN, GOBP_RESPONSE_TO_FOOD, TGACCTY_ERR1_Q2, GOBP_MONOCARBOXYLIC_ACID_METABOLIC_PROCESS, GOBP_ORGANIC_ACID_BIOSYNTHETIC_PROCESS, SENESE_HDAC1_AND_HDAC2_TARGETS_DN, GOBP_GENERATION_OF_PRECURSOR_METABOLITES_AND_ENERGY, GOBP_REGULATION_OF_OXIDATIVE_PHOSPHORYLATION, GOBP_SMALL_MOLECULE_BIOSYNTHETIC_PROCESS, GOBP_REGULATION_OF_MITOCHONDRION_ORGANIZATION

GO Biological Process (13): regulation of oxidative phosphorylation (GO:0002082), retinal pigment epithelium development (GO:0003406), unsaturated fatty acid biosynthetic process (GO:0006636), mitochondrion organization (GO:0007005), peroxisome organization (GO:0007031), response to cold (GO:0009409), long-chain fatty acid transport (GO:0015909), response to food (GO:0032094), alpha-linolenic acid metabolic process (GO:0036109), long-chain fatty acid biosynthetic process (GO:0042759), regulation of mitochondrial fission (GO:0090140), fatty acid derivative biosynthetic process (GO:1901570), fatty acid derivative transport (GO:1901571)

GO Molecular Function (2): lipid carrier activity (GO:0005319), protein binding (GO:0005515)

GO Cellular Component (7): peroxisome (GO:0005777), peroxisomal membrane (GO:0005778), lipid droplet (GO:0005811), mitochondrial membrane (GO:0031966), mitochondrion (GO:0005739), endomembrane system (GO:0012505), membrane (GO:0016020)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
fatty acid biosynthetic process	2
unsaturated fatty acid metabolic process	2
organelle organization	2
long-chain fatty acid metabolic process	2
cellular anatomical structure	2
oxidative phosphorylation	1
regulation of aerobic respiration	1
retina development in camera-type eye	1
epithelium development	1
response to stress	1
response to temperature stimulus	1
fatty acid transport	1
response to nutrient levels	1
response to chemical	1
olefinic compound metabolic process	1
mitochondrial fission	1
regulation of mitochondrion organization	1
regulation of anatomical structure morphogenesis	1
lipid biosynthetic process	1
fatty acid derivative metabolic process	1
lipid transport	1
molecular carrier activity	1
binding	1
microbody	1
peroxisome	1
microbody membrane	1
intracellular membraneless organelle	1
mitochondrion	1
mitochondrial envelope	1
organelle membrane	1
cytoplasm	1
intracellular membrane-bounded organelle	1
vacuole	1
plasma membrane	1

Protein interactions and networks

STRING

708 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
TMEM135	PXMP4	Q9Y6I8	690
TMEM135	TIMM17A	Q99595	664
TMEM135	DEUP1	Q05D60	647
TMEM135	MAN2A1	Q16706	608
TMEM135	GPATCH1	Q9BRR8	542
TMEM135	ZBTB40	Q9NUA8	536
TMEM135	WNT16	Q9UBV4	517
TMEM135	TRMT11	Q7Z4G4	471
TMEM135	MPV17L2	Q567V2	468
TMEM135	CCDC170	Q8IYT3	458
TMEM135	MACIR	Q96GV9	448
TMEM135	SLC12A4	Q9UP95	420
TMEM135	LRRC59	Q96AG4	419
TMEM135	PXMP2	Q9NR77	412
TMEM135	ATAD1	Q8NBU5	403

IntAct

13 interactions, top by confidence:

A	B	Type	Score
SMPD3	ENDOD1	psi-mi:“MI:0914”(association)	0.530
TMEM135	H2BC21	psi-mi:“MI:0915”(physical association)	0.400
TMEM135	BIRC6	psi-mi:“MI:0915”(physical association)	0.400
	NBAS	psi-mi:“MI:0914”(association)	0.350
	TMEM223	psi-mi:“MI:0914”(association)	0.350
ATF1	MYO1C	psi-mi:“MI:0914”(association)	0.350
CASP3	TMEM223	psi-mi:“MI:0914”(association)	0.350
CTNNA1	KIF2A	psi-mi:“MI:0914”(association)	0.350
MYC	AP3B1	psi-mi:“MI:0914”(association)	0.350
SOX2	IGF2BP3	psi-mi:“MI:0914”(association)	0.350
MYB	NOP56	psi-mi:“MI:0914”(association)	0.350

BioGRID (12): TMEM135 (Affinity Capture-MS), TMEM135 (Affinity Capture-MS), TMEM135 (Proximity Label-MS), TMEM135 (Proximity Label-MS), TMEM135 (Proximity Label-MS), TMEM135 (Proximity Label-MS), TMEM135 (Proximity Label-MS), TMEM135 (Proximity Label-MS), TMEM135 (Affinity Capture-MS), BIRC6 (Affinity Capture-MS), TMEM135 (Cross-Linking-MS (XL-MS)), TMEM135 (Affinity Capture-RNA)

ESM2 similar proteins: A2RVP7, A2VDV9, A4IFL0, O14925, O35093, O35094, O35857, O43615, O60830, P0CR88, P0CR89, P59670, Q02921, Q2HJE9, Q2KHV4, Q2UAP8, Q38820, Q3B8P0, Q3ZBE6, Q4V8S3, Q5BIN4, Q5M7K0, Q5R5H4, Q5RDD0, Q5REX0, Q5SRD1, Q5U4F4, Q5U4U5, Q5XH94, Q5XJY4, Q5ZLL0, Q6BZY4, Q6GQ39, Q6INU6, Q6NWD4, Q7T2P6, Q86UB9, Q9C1E8, Q9CQ85, Q9CYV5

Diamond homologs: Q3ZBE6, Q5U4F4, Q6GQ39, Q86UB9, Q95QD1, Q9CYV5

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	45
Likely benign	6
Benign	6

Top pathogenic / likely-pathogenic (0)

SpliceAI

3515 predictions. Top by Δscore:

Variant	Effect	Δscore
11:87090683:C:G	donor_gain	1.0000
11:87128464:G:GT	donor_gain	1.0000
11:87128474:G:GT	donor_gain	1.0000
11:87128475:A:T	donor_gain	1.0000
11:87157404:GAA:G	donor_gain	1.0000
11:87157407:G:GG	donor_gain	1.0000
11:87157412:A:G	donor_gain	1.0000
11:87236632:TTACA:T	acceptor_loss	1.0000
11:87236633:TACA:T	acceptor_loss	1.0000
11:87236634:ACAG:A	acceptor_loss	1.0000
11:87236635:CA:C	acceptor_loss	1.0000
11:87236636:A:T	acceptor_loss	1.0000
11:87236637:G:GT	acceptor_loss	1.0000
11:87302397:G:GT	donor_gain	1.0000
11:87302425:G:GT	donor_gain	1.0000
11:87302426:A:T	donor_gain	1.0000
11:87302443:G:GG	donor_gain	1.0000
11:87306001:TTAAA:T	donor_gain	1.0000
11:87306004:AA:A	donor_gain	1.0000
11:87306004:AAG:A	donor_loss	1.0000
11:87306006:G:GG	donor_gain	1.0000
11:87306006:G:T	donor_loss	1.0000
11:87306007:T:A	donor_loss	1.0000
11:87306008:AA:A	donor_loss	1.0000
11:87318132:T:TA	acceptor_gain	1.0000
11:87318132:TGCA:T	acceptor_loss	1.0000
11:87318133:GCAG:G	acceptor_loss	1.0000
11:87318134:CA:C	acceptor_loss	1.0000
11:87318135:A:AC	acceptor_loss	1.0000
11:87318135:A:AG	acceptor_gain	1.0000

AlphaMissense

3008 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
11:87071615:G:T	R121M	1.000
11:87295817:C:A	A182E	1.000
11:87309649:G:C	G305R	1.000
11:87309650:G:A	G305D	1.000
11:87309661:A:C	S309R	1.000
11:87309663:T:A	S309R	1.000
11:87309663:T:G	S309R	1.000
11:87314482:G:C	G338R	1.000
11:87067772:T:C	F74L	0.999
11:87067774:T:A	F74L	0.999
11:87067774:T:G	F74L	0.999
11:87071615:G:C	R121T	0.999
11:87091362:G:C	R121S	0.999
11:87091362:G:T	R121S	0.999
11:87091373:T:A	L125H	0.999
11:87091373:T:C	L125P	0.999
11:87236684:G:T	R170M	0.999
11:87309529:G:A	G265R	0.999
11:87309529:G:C	G265R	0.999
11:87309529:G:T	G265W	0.999
11:87309530:G:A	G265E	0.999
11:87309638:G:A	G301E	0.999
11:87309647:T:C	L304P	0.999
11:87313434:T:C	C316R	0.999
11:87313435:G:A	C316Y	0.999
11:87313436:C:G	C316W	0.999
11:87313443:C:A	R319S	0.999
11:87313486:C:A	A333D	0.999
11:87313488:G:A	G334R	0.999
11:87313488:G:C	G334R	0.999

dbSNP variants (sampled 300 via entrez): RS1000000640 (11:87258756 A>C), RS1000008910 (11:87270652 T>A), RS1000029158 (11:87325501 T>G), RS1000043494 (11:87127912 A>C), RS1000048233 (11:87172308 G>A), RS1000049748 (11:87094527 C>A,T), RS1000078734 (11:87230740 G>T), RS1000087966 (11:87145504 T>C), RS1000091271 (11:87276558 T>G), RS1000092384 (11:87311405 A>G), RS1000107156 (11:87166298 T>G), RS1000120371 (11:87134145 A>T), RS1000123709 (11:87055911 A>G), RS1000128874 (11:87225904 T>C), RS1000131906 (11:87270312 G>A,C)

Disease associations

OMIM: gene MIM:616360 | disease phenotypes:

GenCC curated gene-disease

Disease	Classification	Inheritance
neurodevelopmental disorder	Limited	Autosomal recessive

Mondo (1): neurodevelopmental disorder (MONDO:0700092)

Orphanet (0):

HPO phenotypes

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

GWAS associations

34 associations (top):

Study	Trait	p-value
GCST002333_6	Bone properties (heel)	5.000000e-26
GCST002335_6	Bone properties (heel)	8.000000e-14
GCST004350_12	Bone ultrasound measurement (velocity of sound)	4.000000e-14
GCST004350_14	Bone ultrasound measurement (velocity of sound)	1.000000e-08
GCST004350_19	Bone ultrasound measurement (velocity of sound)	4.000000e-07
GCST004351_1	Bone ultrasound measurement (broadband ultrasound attenuation)	4.000000e-11
GCST004351_22	Bone ultrasound measurement (broadband ultrasound attenuation)	3.000000e-07
GCST005796_20	Lumbar spine bone mineral density	2.000000e-08
GCST006030_7	Chloride levels	4.000000e-08
GCST006032_6	Sodium levels	6.000000e-12
GCST006288_187	Heel bone mineral density	3.000000e-30
GCST006288_188	Heel bone mineral density	4.000000e-08
GCST006288_376	Heel bone mineral density	3.000000e-49
GCST006288_377	Heel bone mineral density	6.000000e-10
GCST006288_47	Heel bone mineral density	4.000000e-77
GCST006288_48	Heel bone mineral density	6.000000e-17
GCST006297_5	Response to perphenazine in schizophrenia	9.000000e-06
GCST006433_1553	Heel bone mineral density	9.000000e-230
GCST006522_17	Upper eyelid sagging severity	3.000000e-06
GCST006979_413	Heel bone mineral density	2.000000e-253
GCST006979_414	Heel bone mineral density	1.000000e-20
GCST006980_11	Fracture	7.000000e-27
GCST007159_7	Corneal astigmatism	4.000000e-06
GCST007616_2	Calcaneus stiffness index	4.000000e-08
GCST009115_6	Heel bone mineral density variance	2.000000e-12
GCST009120_6	Heel bone mineral density	4.000000e-98
GCST009723_53	Vertical cup-disc ratio (adjusted for vertical disc diameter)	1.000000e-08
GCST009724_78	Vertical cup-disc ratio (multi-trait analysis)	1.000000e-11
GCST010796_4801	Electrocardiogram morphology (amplitude at temporal datapoints)	4.000000e-08
GCST010796_4802	Electrocardiogram morphology (amplitude at temporal datapoints)	4.000000e-08

EFO canonical traits (9, from GWAS)

EFO ID	Trait name
EFO:0005654	velocity of sound measurement
EFO:0004514	bone quantitative ultrasound measurement
EFO:0007701	spine bone mineral density
EFO:0009282	sodium measurement
EFO:0009270	heel bone mineral density
EFO:1002040	Corneal astigmatism
EFO:0006939	cup-to-disc ratio measurement
EFO:0004327	electrocardiography
EFO:0004531	urate measurement

MeSH disease descriptors (1)

Descriptor	Name	Tree numbers
D065886	Neurodevelopmental Disorders	F03.625

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Benzo(a)pyrene	affects methylation, decreases expression	5
Valproic Acid	affects expression, decreases expression, increases expression	3
Aflatoxin B1	affects expression, decreases expression	3
methylmercuric chloride	decreases expression	2
bisphenol A	increases expression	2
Arsenic	decreases expression, increases abundance, affects methylation, affects cotreatment	2
Cyclosporine	decreases expression	2
aristolochic acid I	decreases expression	1
GSK-J4	increases expression	1
dicrotophos	decreases expression	1
methyleugenol	decreases expression	1
triphenyl phosphate	affects expression	1
pirinixic acid	affects binding, increases activity, increases expression	1
2,5,2’,5’-tetrachlorobiphenyl	decreases expression	1
beta-lapachone	decreases expression	1
mono-(2-ethylhexyl)phthalate	increases expression	1
sodium arsenite	affects cotreatment, decreases expression, increases abundance	1
manganese chloride	affects cotreatment, decreases expression, increases abundance	1
potassium chromate(VI)	affects cotreatment, decreases expression	1
epigallocatechin gallate	affects cotreatment, decreases expression	1
di-n-butylphosphoric acid	affects expression	1
CGP 52608	affects binding, increases reaction	1
K 7174	decreases expression	1
ICG 001	decreases expression	1
jinfukang	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	increases expression	1
Sunitinib	increases expression	1
Leflunomide	increases expression	1
Acetaminophen	decreases expression	1
Cadmium	increases expression, increases abundance	1

Clinical trials (associated diseases)

202 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,
NCT02559102	PHASE3	COMPLETED	Dexmedetomidine Sedation Versus General Anaesthesia for Inguinal Hernia Surgery in Infants
NCT02757079	PHASE3	COMPLETED	Study of the Efficacy and Safety of NPC-15 for Sleep Disorders of Children With Neurodevelopmental Disorders
NCT06915480	PHASE3	RECRUITING	Reducing Missed Appointments
NCT07377032	PHASE3	RECRUITING	TAP-GRIN: Interventional Study on Patients With GRIN-related Neurodevelopmental Disorders
NCT02909959	PHASE2	COMPLETED	Sulforaphane for the Treatment of Young Men With Autism Spectrum Disorder
NCT06081348	PHASE2	RECRUITING	Sertraline vs. Placebo in the Treatment of Anxiety in Children and AdoLescents With NeurodevelopMental Disorders
NCT06352372	PHASE2	COMPLETED	Safety and Efficacy of tPBM for Epileptiform Activity in Autism
NCT00503191	PHASE1	COMPLETED	NeuroModulation Technique Treatment of Autism
NCT04475848	PHASE1	COMPLETED	A Study to Investigate the Safety, Tolerability, Pharmacokinetics, Pharmacodynamics and Food Effect of RO6953958 in Healthy Participants
NCT06300398	PHASE1	COMPLETED	IAMA-6 Oral Dose Study in Healthy Adults
NCT01783041	PHASE2/PHASE3	COMPLETED	Effect of Early L-Carnitine Supplementation on Neurodevelopmental Outcomes in Very Preterm Infants
NCT05767385	PHASE2/PHASE3	RECRUITING	Fetal Cerebrovascular Autoregulation in Congenital Heart Disease and Association With Neonatal Neurobehavior
NCT05675098	EARLY_PHASE1	NOT_YET_RECRUITING	Central Nervous System Stimulants and Physical Function in Children With Cerebral Palsy
NCT00783783	Not specified	COMPLETED	CYP2D6 Pharmacogenetics in Risperidone-Treated Children
NCT01778504	Not specified	RECRUITING	Studying Childhood-onset Behavioral, Psychiatric, and Developmental Disorders
NCT01850784	Not specified	UNKNOWN	High Energy Formula Feeding in Infants With Congenital Heart Disease
NCT01922791	Not specified	COMPLETED	Nutrition and Pregnancy Intervention Study
NCT01942525	Not specified	UNKNOWN	Influence of Intrauterine Growth Restriction on Amplitude-integrated EEG in Preterm Infants
NCT02003170	Not specified	COMPLETED	Etiology and Early Diagnosis of Neurodevelopmental Disorders
NCT02118649	Not specified	ACTIVE_NOT_RECRUITING	Enhancing Behavior and Brain Response to Visual Targets Using a Computer Game
NCT02557191	Not specified	TERMINATED	Biomarkers, Neurodevelopment and Preterm Infants
NCT02690675	Not specified	COMPLETED	Iron Supplement Effect on Child Development
NCT02694003	Not specified	COMPLETED	Better Nights, Better Days for Children With Neurodevelopment Disorders
NCT02792894	Not specified	COMPLETED	Family Networks (FaNs) for Children With Developmental Disorders and Delays
NCT02871674	Not specified	UNKNOWN	Good Night Project: Behavioural Sleep Interventions for Children With ADHD: A Randomised Controlled Trial
NCT02887157	Not specified	COMPLETED	Analyzing Retinal Microanatomy in ROP
NCT02898298	Not specified	COMPLETED	Positive Emotion Regulation Training in Children, Adolescents and Young Adults With and Without Developmental Disorder
NCT02912780	Not specified	UNKNOWN	Introduction of Microsystems in a Level 3 Neonatal Intensive Care Unit
NCT03023293	Not specified	COMPLETED	n-3 PUFAs, Irisin and Maternal Glucose Metabolism From Pregnancy to Postpartum
NCT03023644	Not specified	COMPLETED	Improving Neurodevelopmental Outcomes in Children With Congenital Heart Disease: An Intervention Study
NCT03032991	Not specified	UNKNOWN	Early Biomarkers of Neurodevelopment in Offspring of Diabetic Mothers
NCT03088189	Not specified	TERMINATED	Effect of Parental Peri-conceptional Vitamin B12 Supplementation on Infant Neurocognitive Development in Offspring
NCT03096028	Not specified	COMPLETED	Developmental Origins of Mental Health Disorders
NCT03148782	Not specified	COMPLETED	Brain Plasticity Underlying Acquisition of New Organizational Skills in Children-R61 Phase
NCT03172104	Not specified	COMPLETED	Neurobehavioural Development of Infants Born <30 Weeks Gestational Age Between Birth and Five Years of Age
NCT03222375	Not specified	RECRUITING	SQUED™ Series 28.1 Home-use and Treatment of Autowave Reverberator of Autism
NCT03229928	Not specified	COMPLETED	Clinical Testing of a Real-Time Behavior Measurement Tool: Measuring Outcomes for CHAnge
NCT03232489	Not specified	UNKNOWN	Study for the Evaluation of the Feasibility of Applying Advanced MRI Scanning in Pediatric Clinical Practice