TMEM161B

Summary

TMEM161B (transmembrane protein 161B, HGNC:28483) is a protein-coding gene on chromosome 5q14.3, encoding Transmembrane protein 161B (Q8NDZ6). Essential for maintaining normal cardiac rhythm in the developing heart and for neonatal survival.

Predicted to enable nucleic acid binding activity. Predicted to be involved in regulation of cardiac muscle cell action potential and regulation of heart rate. Predicted to be located in plasma membrane.

Source: NCBI Gene 153396 — RefSeq curated summary.

At a glance

• Gene–disease (curated): neurodevelopmental disorder (Limited, GenCC)
• GWAS associations: 31
• Clinical variants (ClinVar): 58 total — 1 likely-pathogenic
• MANE Select transcript: NM_153354

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:28483
Approved symbol	TMEM161B
Name	transmembrane protein 161B
Location	5q14.3
Locus type	gene with protein product
Status	Approved
Aliases	MGC33214
Ensembl gene	ENSG00000164180
Ensembl biotype	protein_coding
OMIM	621178
Entrez	153396

Gene structure

Transcript identifiers

Ensembl transcripts: 18 — 7 protein_coding, 6 protein_coding_CDS_not_defined, 5 nonsense_mediated_decay

ENST00000296595, ENST00000503194, ENST00000503755, ENST00000503943, ENST00000506536, ENST00000507872, ENST00000509387, ENST00000510089, ENST00000511087, ENST00000511218, ENST00000512429, ENST00000513487, ENST00000514135, ENST00000515293, ENST00000515477, ENST00000850886, ENST00000934279, ENST00000934280

RefSeq mRNA: 8 — MANE Select: NM_153354 NM_001289007, NM_001289008, NM_001349400, NM_001349402, NM_001349403, NM_001349405, NM_001349407, NM_153354

CCDS: CCDS4065, CCDS75269, CCDS75270

Canonical transcript exons

ENST00000296595 — 12 exons

Exon	Start	End
ENSE00003466688	88220563	88220719
ENSE00003503393	88206439	88206499
ENSE00003534216	88240813	88240916
ENSE00003553465	88207029	88207180
ENSE00003555210	88225769	88225866
ENSE00003571930	88198976	88199150
ENSE00003574686	88197669	88197765
ENSE00003577319	88202962	88203075
ENSE00003585009	88228445	88228528
ENSE00003683571	88205814	88205954
ENSE00004282460	88195047	88196488
ENSE00004282465	88268721	88268845

Expression profiles

Bgee: expression breadth ubiquitous, 257 present calls, max score 94.77.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 21.4786 / max 276.5256, expressed in 1803 samples.

FANTOM5 promoters (2 alternative TSS)

Promoter ID	TPM avg	Samples expressed
62441	21.1038	1803
62439	0.3748	138

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
epithelial cell of pancreas	CL:0000083	94.77	gold quality
ileal mucosa	UBERON:0000331	91.75	gold quality
jejunal mucosa	UBERON:0000399	90.29	gold quality
parotid gland	UBERON:0001831	89.09	gold quality
adrenal tissue	UBERON:0018303	89.09	gold quality
epithelium of nasopharynx	UBERON:0001951	88.94	gold quality
cardiac muscle of right atrium	UBERON:0003379	88.61	silver quality
left ventricle myocardium	UBERON:0006566	88.09	silver quality
esophagus squamous epithelium	UBERON:0006920	88.07	gold quality
germinal epithelium of ovary	UBERON:0001304	87.87	gold quality
pancreatic ductal cell	CL:0002079	87.28	silver quality
pigmented layer of retina	UBERON:0001782	87.20	gold quality
retina	UBERON:0000966	87.17	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	87.06	gold quality
eye	UBERON:0000970	86.86	gold quality
tibialis anterior	UBERON:0001385	86.82	silver quality
body of stomach	UBERON:0001161	86.79	gold quality
palpebral conjunctiva	UBERON:0001812	86.76	gold quality
deltoid	UBERON:0001476	86.66	gold quality
bone marrow cell	CL:0002092	86.65	gold quality
stomach	UBERON:0000945	86.56	gold quality
duodenum	UBERON:0002114	86.51	gold quality
jejunum	UBERON:0002115	86.48	gold quality
corpus epididymis	UBERON:0004359	86.40	gold quality
nasal cavity epithelium	UBERON:0005384	86.37	gold quality
tibia	UBERON:0000979	86.22	gold quality
cortical plate	UBERON:0005343	86.18	gold quality
rectum	UBERON:0001052	86.08	gold quality
caput epididymis	UBERON:0004358	86.08	gold quality
Brodmann (1909) area 23	UBERON:0013554	85.72	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	5.62

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

165 targeting TMEM161B, 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-1277-5P	100.00	73.95	5056
HSA-MIR-190A-3P	100.00	80.35	5520
HSA-MIR-5011-5P	100.00	83.46	5820
HSA-MIR-656-3P	100.00	72.15	2788
HSA-MIR-5692B	100.00	71.32	2622
HSA-MIR-5692C	100.00	71.32	2622
HSA-LET-7A-3P	100.00	74.03	3932
HSA-LET-7B-3P	100.00	74.08	3913
HSA-LET-7F-1-3P	100.00	74.02	3928
HSA-MIR-98-3P	100.00	74.08	3907
HSA-MIR-3163	100.00	77.23	8605
HSA-MIR-518D-5P	100.00	67.51	979
HSA-MIR-518E-5P	100.00	67.66	954
HSA-MIR-518F-5P	100.00	67.51	979
HSA-MIR-519A-5P	100.00	67.66	954
HSA-MIR-519B-5P	100.00	67.66	954
HSA-MIR-519C-5P	100.00	67.66	954
HSA-MIR-520C-5P	100.00	67.51	979
HSA-MIR-522-5P	100.00	67.66	954
HSA-MIR-523-5P	100.00	67.66	954
HSA-MIR-526A-5P	100.00	67.51	979
HSA-MIR-3064-3P	100.00	70.09	1254
HSA-MIR-4282	99.99	75.36	6408
HSA-MIR-520D-5P	99.98	73.34	4883
HSA-MIR-524-5P	99.98	73.43	4882
HSA-MIR-4775	99.98	75.00	6394
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-302C-5P	99.97	72.56	3642

Literature-anchored findings (GeneRIF, showing 5)

• Single nucleotide polymorphism in TMEM161B gene is associated with major depressive disorder. (PMID:27479909)
• The previously identified major depressive disorder risk variant rs10514299 in TMEM161B-MEF2C predicts neuronal correlates of reward processing in an alcohol dependence phenotype, possibly explaining part of the shared pathophysiology and comorbidity between the disorders. (PMID:30006604)
• Role of rs454214 in Personality mediated Depression and Subjective Well-being. (PMID:32231262)
• TMEM161B modulates radial glial scaffolding in neocortical development. (PMID:36669109)
• The interaction between TMEM161B (rs768705) and paranoid personality traits in relation to the risk of major depressive disorder: Results form a longitudinal study of 7642 Chinese freshmen. (PMID:39147160)

Cross-species orthologs

5 orthologs

Organism	Symbol	Gene ID
danio_rerio	tmem161b	ENSDARG00000055989
mus_musculus	Tmem161b	ENSMUSG00000035762
rattus_norvegicus	Tmem161b	ENSRNOG00000032414
drosophila_melanogaster	emei	FBGN0036133
caenorhabditis_elegans	Y87G2A.13	WBGENE00013601

Paralogs (1): TMEM161A (ENSG00000064545)

Protein

Protein identifiers

Transmembrane protein 161B — Q8NDZ6 (reviewed: Q8NDZ6)

All UniProt accessions (8): B7Z6A5, B7Z6T3, D6RAK4, D6RAR3, D6RBE8, E9PCX5, E9PFW6, Q8NDZ6

UniProt curated annotations — full annotation on UniProt →

Function. Essential for maintaining normal cardiac rhythm in the developing heart and for neonatal survival. Inhibits potassium and calcium currents in the cardiomyocytes, this assists in timely action potential repolarization and thereby maintains normal cardiac rhythm.

Subcellular location. Cell membrane.

Similarity. Belongs to the TMEM161 family.

Isoforms (3)

UniProt ID	Names	Canonical?
Q8NDZ6-1	1	yes
Q8NDZ6-2	2
Q8NDZ6-3	3

RefSeq proteins (8): NP_001275936, NP_001275937, NP_001336329, NP_001336331, NP_001336332, NP_001336334, NP_001336336, NP_699185* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR019395	Transmembrane_161A/B	Family

Pfam: PF10268

UniProt features (16 total): transmembrane region 8, splice variant 4, glycosylation site 3, chain 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q8NDZ6-F1	82.99	0.49

Functional residue map

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

Glycosylation sites (3): 135, 203, 34

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 116 (showing top): RODRIGUES_THYROID_CARCINOMA_POORLY_DIFFERENTIATED_UP, GOBP_CIRCULATORY_SYSTEM_PROCESS, TATTATA_MIR374, TGACCTY_ERR1_Q2, GOBP_REGULATION_OF_HEART_RATE, GOBP_REGULATION_OF_CARDIAC_MUSCLE_CELL_ACTION_POTENTIAL, GOBP_REGULATION_OF_ACTION_POTENTIAL, GATA1_03, GOBP_REGULATION_OF_SYSTEM_PROCESS, GOBP_CARDIAC_MUSCLE_CELL_ACTION_POTENTIAL, RYTTCCTG_ETS2_B, TGAGATT_MIR216, ELK1_01, GOBP_HEART_PROCESS, TGACCTTG_SF1_Q6

GO Biological Process (3): regulation of heart rate (GO:0002027), regulation of cardiac muscle cell action potential (GO:0098901), DNA integration (GO:0015074)

GO Molecular Function (1): nucleic acid binding (GO:0003676)

GO Cellular Component (2): plasma membrane (GO:0005886), membrane (GO:0016020)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
regulation of heart contraction	1
regulation of biological quality	1
cardiac muscle cell action potential	1
regulation of action potential	1
DNA metabolic process	1
binding	1
membrane	1
cell periphery	1
cellular anatomical structure	1

Protein interactions and networks

STRING

642 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
TMEM161B	LHPP	Q9H008	651
TMEM161B	MEF2C	Q06413	620
TMEM161B	KBTBD12	Q3ZCT8	560
TMEM161B	PIGG	Q5H8A4	536
TMEM161B	MXRA7	P84157	529
TMEM161B	PSD3	Q9NYI0	525
TMEM161B	CCDC169	A6NNP5	510
TMEM161B	TMEM117	Q9H0C3	508
TMEM161B	OLFM4	Q6UX06	498
TMEM161B	POFUT3	Q6P4F1	464
TMEM161B	ENOX1	Q8TC92	460
TMEM161B	TAFA2	Q8N3H0	455
TMEM161B	SUMF2	Q8NBJ7	443
TMEM161B	IMMP2L	Q96T52	440
TMEM161B	NAALADL2	Q58DX5	433

IntAct

27 interactions, top by confidence:

A	B	Type	Score
IPPK	TMEM223	psi-mi:“MI:0914”(association)	0.530
YIPF3	TMEM120B	psi-mi:“MI:0914”(association)	0.530
LPAR1	TMEM120B	psi-mi:“MI:0914”(association)	0.530
APLNR	METTL15	psi-mi:“MI:0914”(association)	0.530
SLC6A8	ILVBL	psi-mi:“MI:0914”(association)	0.530
TMEM161B	GAPDHS	psi-mi:“MI:0915”(physical association)	0.400
CANX	HLA-A	psi-mi:“MI:0914”(association)	0.350
TTYH1	TMEM223	psi-mi:“MI:0914”(association)	0.350
CMTM5	TMEM120B	psi-mi:“MI:0914”(association)	0.350
HCST	TMEM120B	psi-mi:“MI:0914”(association)	0.350
C5AR1	TCAF2	psi-mi:“MI:0914”(association)	0.350
MAGEA8	METTL15	psi-mi:“MI:0914”(association)	0.350
GPR182	METTL15	psi-mi:“MI:0914”(association)	0.350
SLC22A4	RTL8C	psi-mi:“MI:0914”(association)	0.350
FPR1	GPR89A	psi-mi:“MI:0914”(association)	0.350
FPR2	GPR89A	psi-mi:“MI:0914”(association)	0.350
P2RY12	GPR89A	psi-mi:“MI:0914”(association)	0.350
CCR6	GPR89A	psi-mi:“MI:0914”(association)	0.350
NTSR1	GPR89A	psi-mi:“MI:0914”(association)	0.350
ATP13A3	GPR89A	psi-mi:“MI:0914”(association)	0.350
GPR12	TLCD2	psi-mi:“MI:0914”(association)	0.350
TSPAN8	POTEF	psi-mi:“MI:0914”(association)	0.350
SLC19A2	TMEM223	psi-mi:“MI:0914”(association)	0.350
SLC30A7	ESYT2	psi-mi:“MI:0914”(association)	0.350
SLC39A7	ESYT2	psi-mi:“MI:0914”(association)	0.350
SLC47A1	PLOD2	psi-mi:“MI:0914”(association)	0.350

BioGRID (41): TMEM161B (Affinity Capture-MS), TMEM161B (Affinity Capture-MS), TMEM161B (Affinity Capture-MS), TMEM161B (Affinity Capture-MS), TMEM161B (Affinity Capture-MS), TMEM161B (Affinity Capture-MS), TMEM161B (Affinity Capture-MS), TMEM161B (Proximity Label-MS), TMEM161B (Affinity Capture-RNA), TMEM161B (Proximity Label-MS), TMEM161B (Affinity Capture-MS), TMEM161B (Affinity Capture-MS), TMEM161B (Affinity Capture-MS), TMEM161B (Affinity Capture-MS), TMEM161B (Affinity Capture-MS)

ESM2 similar proteins: A0A140LIJ0, A1L3G9, A4IFL1, B9X187, O18968, O70491, P08033, P08034, P28230, P35212, P36380, P51915, P60572, Q02738, Q059Y8, Q0V8E7, Q1LXZ7, Q28FG4, Q29559, Q4QR83, Q5E9Z5, Q5FVF4, Q5FWS4, Q5JW98, Q5R7B4, Q5T197, Q5T1A1, Q60HF7, Q640M6, Q6GMB1, Q6WGK6, Q7SY10, Q7TNJ0, Q8BXV2, Q8C2L6, Q8C9E8, Q8CE93, Q8CEG0, Q8N5C1, Q8NDZ6

Diamond homologs: Q0V947, Q28FG4, Q6GMB1, Q7SY10, Q8C2L6, Q8NDZ6, Q8VCA6, Q9NX61

SIGNOR signaling

0 interactions.

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 38 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
G alpha (i) signalling events	7	12.4×	8e-05

GO biological processes:

GO term	Partners	Fold	FDR
adenylate cyclase-inhibiting G protein-coupled receptor signaling pathway	5	32.2×	1e-04
chemotaxis	5	20.0×	4e-04
phospholipase C-activating G protein-coupled receptor signaling pathway	5	19.4×	4e-04
positive regulation of cytosolic calcium ion concentration	5	17.2×	5e-04
G protein-coupled receptor signaling pathway	7	7.5×	2e-03

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	1
Uncertain significance	33
Likely benign	2
Benign	3

Top pathogenic / likely-pathogenic (1)

Variant ID	HGVS	Classification
4820214	NM_153354.5(TMEM161B):c.745C>T (p.Arg249Ter)	Likely pathogenic

SpliceAI

2493 predictions. Top by Δscore:

Variant	Effect	Δscore
5:88199088:C:CT	acceptor_gain	1.0000
5:88199149:TT:T	acceptor_gain	1.0000
5:88199151:C:CC	acceptor_gain	1.0000
5:88202960:A:AC	donor_gain	1.0000
5:88202961:C:CC	donor_gain	1.0000
5:88205812:A:AC	donor_gain	1.0000
5:88205813:C:CC	donor_gain	1.0000
5:88206432:AACTT:A	donor_loss	1.0000
5:88206434:CTTAC:C	donor_loss	1.0000
5:88206435:TTA:T	donor_loss	1.0000
5:88206437:A:AC	donor_gain	1.0000
5:88206438:C:CC	donor_gain	1.0000
5:88206438:CTGAG:C	donor_gain	1.0000
5:88206498:CC:C	acceptor_gain	1.0000
5:88206499:CC:C	acceptor_gain	1.0000
5:88206500:C:CC	acceptor_gain	1.0000
5:88220598:G:C	donor_gain	1.0000
5:88220608:ATTT:A	donor_gain	1.0000
5:88220611:T:A	donor_gain	1.0000
5:88225763:CCTTA:C	donor_loss	1.0000
5:88225764:CTTA:C	donor_loss	1.0000
5:88225765:TTA:T	donor_loss	1.0000
5:88225766:TACC:T	donor_loss	1.0000
5:88225768:C:A	donor_loss	1.0000
5:88225863:TTTC:T	acceptor_gain	1.0000
5:88225865:TCC:T	acceptor_loss	1.0000
5:88225867:CT:C	acceptor_loss	1.0000
5:88225868:T:C	acceptor_loss	1.0000
5:88228438:AACTT:A	donor_loss	1.0000
5:88228439:ACTT:A	donor_loss	1.0000

AlphaMissense

3176 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
5:88203026:A:G	W284R	1.000
5:88203026:A:T	W284R	1.000
5:88196282:A:G	W465R	0.999
5:88196282:A:T	W465R	0.999
5:88196285:A:G	W464R	0.999
5:88196285:A:T	W464R	0.999
5:88220591:A:G	W140R	0.999
5:88220591:A:T	W140R	0.999
5:88220598:G:C	S137R	0.999
5:88220598:G:T	S137R	0.999
5:88220600:T:G	S137R	0.999
5:88196245:C:T	G477E	0.998
5:88203024:C:A	W284C	0.998
5:88203024:C:G	W284C	0.998
5:88205879:A:C	F245L	0.998
5:88205879:A:T	F245L	0.998
5:88205881:A:G	F245L	0.998
5:88205895:C:T	G240E	0.998
5:88205896:C:A	G240W	0.998
5:88205896:C:G	G240R	0.998
5:88205896:C:T	G240R	0.998
5:88240872:A:C	S16R	0.998
5:88240872:A:T	S16R	0.998
5:88240874:T:G	S16R	0.998
5:88240885:A:T	M12K	0.998
5:88196246:C:G	G477R	0.997
5:88196246:C:T	G477R	0.997
5:88196306:C:G	G457R	0.997
5:88196306:C:T	G457R	0.997
5:88199043:G:T	A341D	0.997

dbSNP variants (sampled 300 via entrez): RS1000047986 (5:88226973 A>T), RS1000081214 (5:88250885 C>T), RS1000083978 (5:88205579 C>T), RS1000111495 (5:88191497 T>C), RS1000146926 (5:88256136 C>T), RS1000179015 (5:88227309 C>T), RS1000213022 (5:88244173 A>C,G), RS1000238552 (5:88193795 T>C), RS1000303992 (5:88212273 C>T), RS1000310993 (5:88266042 C>T), RS1000392046 (5:88186038 C>T), RS1000415630 (5:88191701 T>C), RS1000484787 (5:88213928 T>C), RS1000525111 (5:88259691 T>G), RS1000533747 (5:88239072 T>C)

Disease associations

OMIM: gene MIM:621178 | disease phenotypes:

GenCC curated gene-disease

Disease	Classification	Inheritance
neurodevelopmental disorder	Limited	Autosomal recessive

Mondo (2): polymicrogyria (MONDO:0000087), neurodevelopmental disorder (MONDO:0700092)

Orphanet (1): Polymicrogyria (Orphanet:35981)

HPO phenotypes

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

GWAS associations

31 associations (top):

Study	Trait	p-value
GCST002071_1	Retinal arteriolar caliber	2.000000e-12
GCST003992_48	Photic sneeze reflex	7.000000e-12
GCST004171_3	Macular telangiectasia type 2	7.000000e-20
GCST004279_31	Systolic blood pressure	4.000000e-09
GCST005951_147	Body mass index	7.000000e-10
GCST006041_1	Major depressive disorder	1.000000e-15
GCST006041_5	Major depressive disorder	1.000000e-09
GCST006940_156	Neurociticism	8.000000e-09
GCST006940_90	Neurociticism	7.000000e-10
GCST006952_22	Feeling tense	5.000000e-10
GCST006976_19	Macular thickness	5.000000e-24
GCST007094_60	Diastolic blood pressure	3.000000e-08
GCST007096_162	Pulse pressure	6.000000e-06
GCST007099_220	Systolic blood pressure	7.000000e-11
GCST007326_65	Number of sexual partners	6.000000e-09
GCST007328_43	Alcohol consumption (drinks per week)	2.000000e-08
GCST007565_3	Morning person	6.000000e-20
GCST007565_45	Morning person	5.000000e-14
GCST007565_57	Morning person	3.000000e-19
GCST007576_37	Chronotype	6.000000e-20
GCST007603_36	Smoking initiation	5.000000e-10
GCST008521_27	Bitter beverage consumption	7.000000e-07
GCST008524_15	Bitter non-alcoholic beverage consumption	8.000000e-07
GCST009600_5	Anorexia nervosa, attention-deficit/hyperactivity disorder, autism spectrum disorder, bipolar disorder, major depression, obsessive-compulsive disorder, schizophrenia, or Tourette syndrome (pleiotropy)	3.000000e-09
GCST010002_32	Refractive error	3.000000e-23
GCST010007_5	Weight gain in amisulpride-treated first-episode psychosis	4.000000e-06
GCST010988_97	Adult body size	2.000000e-16
GCST010989_253	Body size at age 10	9.000000e-10
GCST012047_12	Fasting glucose	4.000000e-08
GCST012251_15	Macular telangiectasia type 2	1.000000e-16

EFO canonical traits (15, from GWAS)

EFO ID	Trait name
EFO:0004731	eye measurement
EFO:0007887	autosomal dominant compelling helio-ophthalmic outburst syndrome
EFO:1002009	macular telangiectasia type 2
EFO:0006335	systolic blood pressure
EFO:0004340	body mass index
EFO:0007660	neuroticism measurement
EFO:0009596	feeling tense measurement
EFO:0006336	diastolic blood pressure
EFO:0005763	pulse pressure measurement
EFO:0008328	chronotype measurement
EFO:0005670	smoking initiation
EFO:0010089	bitter beverage consumption measurement
EFO:0010093	bitter non-alcoholic beverage consumption measurement
EFO:0005937	longitudinal BMI measurement
EFO:0009819	comparative body size at age 10, self-reported

MeSH disease descriptors (2)

Descriptor	Name	Tree numbers
D065886	Neurodevelopmental Disorders	F03.625
D065706	Polymicrogyria	C10.500.507.500.500; C16.131.666.507.500.500

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	increases expression, decreases expression	3
Air Pollutants	increases abundance, increases expression, decreases expression, affects cotreatment	2
GSK-J4	increases expression	1
ginger extract	affects cotreatment, affects expression, increases abundance	1
dicrotophos	decreases expression	1
methylmercuric chloride	decreases expression	1
triphenyl phosphate	affects expression	1
alpha-pinene	affects cotreatment, increases expression, increases abundance	1
bisphenol A	affects cotreatment, affects expression, increases abundance	1
beta-lapachone	increases expression	1
tris(1,3-dichloro-2-propyl)phosphate	increases expression	1
sodium arsenite	affects cotreatment, increases abundance, increases expression	1
methacrylaldehyde	affects cotreatment, increases expression, increases abundance	1
di-n-butylphosphoric acid	affects expression	1
perfluorooctane sulfonic acid	increases expression	1
entinostat	increases expression	1
jinfukang	decreases expression	1
Sunitinib	increases expression	1
Acetaminophen	decreases expression	1
Acrolein	increases abundance, affects cotreatment, increases expression	1
Amiodarone	increases expression	1
Arsenic	affects cotreatment, increases abundance, increases expression	1
Benzo(a)pyrene	decreases methylation	1
Coal	decreases expression, increases abundance	1
Oils, Volatile	affects cotreatment, affects expression, increases abundance	1
Ozone	increases expression, increases abundance, affects cotreatment	1
Phenobarbital	affects expression	1
Smoke	decreases expression, increases abundance	1
Vitamin E	decreases expression	1
7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide	decreases expression	1

Cellosaurus cell lines

1 cell lines: 1 cancer cell line

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

Cellosaurus	Name	Category	Sex
CVCL_E0R8	Ubigene HeLa TMEM161B KO	Cancer cell line	Female

Clinical trials (associated diseases)

204 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