TMEM126A

Summary

TMEM126A (transmembrane protein 126A, HGNC:25382) is a protein-coding gene on chromosome 11q14.1, encoding Transmembrane protein 126A (Q9H061). Protein required for the cotranslational protein quality control in the inner membrane of the mitochondria.

The protein encoded by this gene is a mitochondrial membrane protein of unknown function. Defects in this gene are a cause of optic atrophy type 7 (OPA7). Two transcript variants encoding different isoforms have been found for this gene.

Source: NCBI Gene 84233 — RefSeq curated summary.

At a glance

• Gene–disease (curated): mitochondrial disease (Definitive, ClinGen) — +2 more curated relationships
• GWAS associations: 1
• Clinical variants (ClinVar): 172 total — 6 pathogenic, 4 likely-pathogenic
• Phenotypes (HPO): 14
• Druggable target: yes
• MANE Select transcript: NM_032273

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:25382
Approved symbol	TMEM126A
Name	transmembrane protein 126A
Location	11q14.1
Locus type	gene with protein product
Status	Approved
Aliases	DKFZp586C1924, OPA7
Ensembl gene	ENSG00000171202
Ensembl biotype	protein_coding
OMIM	612988
Entrez	84233

Gene structure

Transcript identifiers

Ensembl transcripts: 15 — 12 protein_coding, 2 nonsense_mediated_decay, 1 retained_intron

ENST00000304511, ENST00000525353, ENST00000528105, ENST00000528531, ENST00000531366, ENST00000532180, ENST00000862988, ENST00000862989, ENST00000924231, ENST00000924232, ENST00000924233, ENST00000924234, ENST00000924235, ENST00000924236, ENST00000924237

RefSeq mRNA: 2 — MANE Select: NM_032273 NM_001244735, NM_032273

CCDS: CCDS58165, CCDS8268

Canonical transcript exons

ENST00000304511 — 5 exons

Exon	Start	End
ENSE00001166866	85650249	85650341
ENSE00002155999	85656309	85656542
ENSE00002178836	85647967	85648089
ENSE00003662035	85655594	85655708
ENSE00003688823	85654063	85654256

Expression profiles

Bgee: expression breadth ubiquitous, 257 present calls, max score 98.89.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 33.7763 / max 178.9283, expressed in 1810 samples.

FANTOM5 promoters (2 alternative TSS)

Promoter ID	TPM avg	Samples expressed
116084	32.4870	1810
116085	1.2893	810

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
left ventricle myocardium	UBERON:0006566	98.89	gold quality
tibialis anterior	UBERON:0001385	98.09	gold quality
deltoid	UBERON:0001476	97.86	gold quality
heart right ventricle	UBERON:0002080	97.71	gold quality
myocardium	UBERON:0002349	97.61	gold quality
quadriceps femoris	UBERON:0001377	97.50	gold quality
vastus lateralis	UBERON:0001379	97.39	gold quality
ileal mucosa	UBERON:0000331	97.13	gold quality
biceps brachii	UBERON:0001507	97.03	gold quality
oocyte	CL:0000023	96.68	gold quality
skeletal muscle tissue of biceps brachii	UBERON:0004502	96.51	gold quality
cardiac muscle of right atrium	UBERON:0003379	96.45	gold quality
cardiac ventricle	UBERON:0002082	96.27	gold quality
heart left ventricle	UBERON:0002084	96.27	gold quality
hindlimb stylopod muscle	UBERON:0004252	95.65	gold quality
heart	UBERON:0000948	95.57	gold quality
cardiac atrium	UBERON:0002081	95.48	gold quality
right atrium auricular region	UBERON:0006631	95.44	gold quality
skeletal muscle tissue of rectus abdominis	UBERON:0004511	95.18	gold quality
islet of Langerhans	UBERON:0000006	95.05	gold quality
muscle tissue	UBERON:0002385	94.78	gold quality
skeletal muscle tissue	UBERON:0001134	94.75	gold quality
apex of heart	UBERON:0002098	94.18	gold quality
body of pancreas	UBERON:0001150	94.11	gold quality
muscle of leg	UBERON:0001383	94.04	gold quality
anterior cingulate cortex	UBERON:0009835	93.81	gold quality
gastrocnemius	UBERON:0001388	93.79	gold quality
Brodmann (1909) area 9	UBERON:0013540	93.68	gold quality
dorsolateral prefrontal cortex	UBERON:0009834	93.60	gold quality
palpebral conjunctiva	UBERON:0001812	93.58	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	no	0.00

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): MYC

Literature-anchored findings (GeneRIF, showing 8)

• TMEM126A encodes a transmembrane mitochondrial protein of unknown function, supporting the view that mitochondrial dysfunction may be a hallmark of inherited optic neuropathies including isolated autosomal-recessive forms. (PMID:19327736)
• The first detailed phenotyping of patients with autosomal recessive TMEM126A-associated optic atrophy and auditory neuropathy, is described. (PMID:20405026)
• The p.Arg55X mutation in TMEM126A, homozygous in all affected siblings and heterozygous in both unaffected parents, has been found in a Moroccan family with autosomal recessive optic atrophy. (PMID:22815638)
• TMEM126A is a mitochondrial located mRNA (MLR) that may be translated in the mitochondrial surface and the protein is subsequently imported to the inner membrane (PMID:23500070)
• The loss of TMEM126A activated extracellular matrix (ECM) remodeling and promoted epithelial-to-mesenchymal transition (EMT). Moreover, TMEM126A silencing induced reactive oxygen species (ROS) production and mitochondrial membrane potential depolarization. (PMID:30393159)
• Novel likely pathogenic variants in TMEM126A identified in non-syndromic autosomal recessive optic atrophy: two case reports (PMID:30961538)
• Optic atrophy-associated TMEM126A is an assembly factor for the ND4-module of mitochondrial complex I. (PMID:33879611)
• NDUFS3 depletion permits complex I maturation and reveals TMEM126A/OPA7 as an assembly factor binding the ND4-module intermediate. (PMID:33882309)

Cross-species orthologs

4 orthologs

Organism	Symbol	Gene ID
danio_rerio	tmem126a	ENSDARG00000014506
mus_musculus	Tmem126a	ENSMUSG00000030615
rattus_norvegicus	Tmem126a	ENSRNOG00000022748
drosophila_melanogaster	CG13392	FBGN0032033

Paralogs (1): TMEM126B (ENSG00000171204)

Protein

Protein identifiers

Transmembrane protein 126A — Q9H061 (reviewed: Q9H061)

All UniProt accessions (3): E9PI90, E9PIH8, Q9H061

UniProt curated annotations — full annotation on UniProt →

Function. Protein required for the cotranslational protein quality control in the inner membrane of the mitochondria. Associates with newly synthesized polypeptides and may act as a chaperone that cooperates with OXA1L for the insertion of newly synthesized mitochondrial proteins into the inner membrane. Required for the assembly of the ND4 module of mitochondrial complex I.

Subunit / interactions. Interacts with OXA1L; promoting cotranslational quality control in mitochondria.

Subcellular location. Mitochondrion inner membrane.

Tissue specificity. Strongly expressed in brain, cerebellum, skeletal muscle, testis. High expression also found in fetal brain, fetal retinal pigmentary epithelium, and fetal retina. Highly expressed in retinal ganglion cells.

Disease relevance. Optic atrophy 7 with or without auditory neuropathy (OPA7) [MIM:612989] A hereditary condition that features progressive visual loss in association with optic atrophy. Atrophy of the optic disk indicates a deficiency in the number of nerve fibers which arise in the retina and converge to form the optic disk, optic nerve, optic chiasm and optic tracts. OPA7 is an autosomal recessive juvenile-onset optic atrophy characterized by severe bilateral deficiency in visual acuity, optic disk pallor, and central scotoma. Some patients manifest hearing loss. The disease is caused by variants affecting the gene represented in this entry.

Similarity. Belongs to the TMEM126 family.

Isoforms (2)

UniProt ID	Names	Canonical?
Q9H061-1	1	yes
Q9H061-2	2

RefSeq proteins (2): NP_001231664, NP_115649* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR009801	TMEM126	Family

Pfam: PF07114

UniProt features (15 total): topological domain 5, sequence variant 4, transmembrane region 4, chain 1, splice variant 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9H061-F1	89.75	0.69

Function

Pathways and Gene Ontology

Reactome pathways

4 pathways

ID	Pathway
R-HSA-6799198	Complex I biogenesis
R-HSA-1428517	Aerobic respiration and respiratory electron transport
R-HSA-1430728	Metabolism
R-HSA-611105	Respiratory electron transport

MSigDB gene sets: 194 (showing top): STARK_PREFRONTAL_CORTEX_22Q11_DELETION_DN, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_DN, GRAESSMANN_RESPONSE_TO_MC_AND_DOXORUBICIN_DN, GOBP_MITOCHONDRIAL_RESPIRATORY_CHAIN_COMPLEX_ASSEMBLY, GOBP_MACROMOLECULE_CATABOLIC_PROCESS, GOBP_ESTABLISHMENT_OF_PROTEIN_LOCALIZATION_TO_ORGANELLE, GOBP_CRANIAL_NERVE_DEVELOPMENT, GOLDRATH_ANTIGEN_RESPONSE, SRF_Q5_01, GOBP_POSITIVE_REGULATION_OF_RESPONSE_TO_EXTERNAL_STIMULUS, GOBP_REGULATION_OF_IMMUNE_RESPONSE, GOBP_DEFENSE_RESPONSE_TO_OTHER_ORGANISM, GOBP_INNER_MITOCHONDRIAL_MEMBRANE_ORGANIZATION, GOBP_OPTIC_NERVE_DEVELOPMENT, GOBP_REGULATION_OF_RESPONSE_TO_STRESS

GO Biological Process (5): optic nerve development (GO:0021554), protein insertion into mitochondrial inner membrane from matrix (GO:0032979), mitochondrial respiratory chain complex I assembly (GO:0032981), toll-like receptor 4 signaling pathway (GO:0034142), mitochondrial protein quality control (GO:0141164)

GO Molecular Function (0):

GO Cellular Component (4): mitochondrion (GO:0005739), mitochondrial inner membrane (GO:0005743), plasma membrane (GO:0005886), membrane (GO:0016020)

Reactome top-level categories

Rollup of top-3 pathways:

Category	Pathways
Respiratory electron transport	1
Metabolism	1
Aerobic respiration and respiratory electron transport	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cranial nerve development	1
inner mitochondrial membrane organization	1
protein insertion into mitochondrial membrane	1
NADH dehydrogenase complex assembly	1
mitochondrial respiratory chain complex assembly	1
cell surface toll-like receptor signaling pathway	1
protein quality control for misfolded or incompletely synthesized proteins	1
cytoplasm	1
intracellular membrane-bounded organelle	1
organelle inner membrane	1
mitochondrial membrane	1
membrane	1
cell periphery	1
cellular anatomical structure	1

Protein interactions and networks

STRING

1322 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
TMEM126A	AASDHPPT	Q9NRN7	815
TMEM126A	ATP5F1B	P06576	771
TMEM126A	TNFSF9	P41273	728
TMEM126A	RTN4IP1	Q8WWV3	700
TMEM126A	SDHA	P31040	666
TMEM126A	WFS1	O76024	547
TMEM126A	TMUB1	Q9BVT8	546
TMEM126A	SPG7	Q9UQ90	544
TMEM126A	DHRS7	Q9Y394	540
TMEM126A	METTL25	Q8N6Q8	531
TMEM126A	TMEM209	Q96SK2	528
TMEM126A	TMEM41A	Q96HV5	509
TMEM126A	METTL27	Q8N6F8	508
TMEM126A	AFG3L2	Q9Y4W6	488
TMEM126A	METTL17	Q9H7H0	488

IntAct

87 interactions, top by confidence:

A	B	Type	Score
CDK4	CCND3	psi-mi:“MI:0914”(association)	0.980
CFTR	ESYT2	psi-mi:“MI:2364”(proximity)	0.710
GLMN	FKBP5	psi-mi:“MI:0914”(association)	0.640
APOOL	MTX2	psi-mi:“MI:0914”(association)	0.530
COLEC12	CSPG5	psi-mi:“MI:0914”(association)	0.530
SLC39A4	TMEM120B	psi-mi:“MI:0914”(association)	0.530
TBC1D15	UBXN8	psi-mi:“MI:0914”(association)	0.530
APLNR	SLC33A1	psi-mi:“MI:0914”(association)	0.530
TMEM63A	AP3D1	psi-mi:“MI:0914”(association)	0.530
GLMN	MGST3	psi-mi:“MI:0914”(association)	0.530
SMPD1	CLGN	psi-mi:“MI:0914”(association)	0.530
ARMC6	SLC27A2	psi-mi:“MI:0914”(association)	0.530
Tuba3a	CCHCR1	psi-mi:“MI:0914”(association)	0.350
CSNK2A2	WDR46	psi-mi:“MI:0914”(association)	0.350
SMC6	IFT88	psi-mi:“MI:0914”(association)	0.350
ZWINT	ARHGAP32	psi-mi:“MI:0914”(association)	0.350
Hax1	DERL1	psi-mi:“MI:0914”(association)	0.350
PARD6A		psi-mi:“MI:0914”(association)	0.350
KRBOX4	ASXL2	psi-mi:“MI:0914”(association)	0.350
TGM2	SRGAP3	psi-mi:“MI:0914”(association)	0.350
STRN3	STK24	psi-mi:“MI:0914”(association)	0.350
MBOAT1	DERL1	psi-mi:“MI:0914”(association)	0.350
Rad54l	GALNT2	psi-mi:“MI:0914”(association)	0.350
BAG3	HTT	psi-mi:“MI:0914”(association)	0.350
E5	ESYT2	psi-mi:“MI:0914”(association)	0.350
	TSPO	psi-mi:“MI:0914”(association)	0.350
CHCHD2	POLRMT	psi-mi:“MI:0914”(association)	0.350
COQ9	NDUFS8	psi-mi:“MI:0914”(association)	0.350

BioGRID (109): TMEM126A (Affinity Capture-MS), TMEM126A (Affinity Capture-MS), TMEM126A (Affinity Capture-MS), TMEM126A (Affinity Capture-MS), TMEM126A (Affinity Capture-MS), TMEM126A (Affinity Capture-MS), TMEM126A (Affinity Capture-MS), TMEM126A (Affinity Capture-MS), TMEM126A (Affinity Capture-MS), TMEM126A (Affinity Capture-MS), TMEM126A (Affinity Capture-MS), TMEM126A (Affinity Capture-MS), TMEM126A (Affinity Capture-MS), TMEM126A (Affinity Capture-MS), TMEM126A (Affinity Capture-MS)

ESM2 similar proteins: A5A761, A6QP55, A6ZR50, A7TML0, A8E7G5, B2LU20, B3DHU2, B3LRL2, B6IJ52, C5DQU6, C7GRS7, C8Z7B2, O13793, O74787, O94689, P87275, Q09201, Q12029, Q32L86, Q3T0M2, Q54NQ9, Q5E9M8, Q5EA43, Q5FC79, Q5RAY9, Q5RD16, Q63965, Q66IS8, Q6CTB6, Q6FQN0, Q6GR43, Q6P4A7, Q6PBI8, Q6PCS6, Q8IQ56, Q8T3C8, Q91V61, Q925N1, Q925N2, Q95QD1

Diamond homologs: B2RZD2, Q32L86, Q5HZA9, Q5RAY9, Q9D1R1, Q9D8Y1, Q9H061, Q8IUX1

SIGNOR signaling

0 interactions.

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 119 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.

GO biological processes:

GO term	Partners	Fold	FDR
response to xenobiotic stimulus	10	6.6×	2e-03

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	6
Likely pathogenic	4
Uncertain significance	83
Likely benign	53
Benign	8

Top pathogenic / likely-pathogenic (10)

Variant ID	HGVS	Classification
1044360	NM_032273.4(TMEM126A):c.154dup (p.Ser52fs)	Pathogenic
1948482	NM_032273.4(TMEM126A):c.260dup (p.Ser88fs)	Pathogenic
2095487	NM_032273.4(TMEM126A):c.258dup (p.Val87fs)	Pathogenic
410	NM_032273.4(TMEM126A):c.163C>T (p.Arg55Ter)	Pathogenic
4710770	NM_032273.4(TMEM126A):c.28del (p.Glu10fs)	Pathogenic
815445	GRCh37/hg19 11q14.1-14.2(chr11:83530179-87059742)x1	Pathogenic
1067483	NM_032273.4(TMEM126A):c.87-2A>C	Likely pathogenic
3544458	NM_032273.4(TMEM126A):c.351C>G (p.Tyr117Ter)	Likely pathogenic
4293764	NM_032273.4(TMEM126A):c.151_154del (p.Asn51fs)	Likely pathogenic
444268	NM_032273.4(TMEM126A):c.86+2T>C	Likely pathogenic

SpliceAI

585 predictions. Top by Δscore:

Variant	Effect	Δscore
11:85655656:G:GA	donor_gain	1.0000
11:85655704:GCCAG:G	donor_gain	1.0000
11:85655705:CCAGG:C	donor_loss	1.0000
11:85655706:CAGG:C	donor_loss	1.0000
11:85655707:AG:A	donor_loss	1.0000
11:85655708:GG:G	donor_loss	1.0000
11:85655709:G:C	donor_loss	1.0000
11:85655710:T:G	donor_loss	1.0000
11:85650247:A:G	acceptor_gain	0.9900
11:85654191:C:T	donor_gain	0.9900
11:85654194:GGA:G	donor_gain	0.9900
11:85654195:G:T	donor_gain	0.9900
11:85654230:GTTTT:G	donor_gain	0.9900
11:85654235:G:GG	donor_gain	0.9900
11:85655588:TCCTA:T	acceptor_loss	0.9900
11:85655589:CCTAG:C	acceptor_loss	0.9900
11:85655590:CTA:C	acceptor_loss	0.9900
11:85655591:TA:T	acceptor_loss	0.9900
11:85655592:A:AG	acceptor_gain	0.9900
11:85655592:A:AT	acceptor_loss	0.9900
11:85655593:G:A	acceptor_loss	0.9900
11:85655593:G:GG	acceptor_gain	0.9900
11:85655695:G:GA	donor_gain	0.9900
11:85648080:A:T	donor_gain	0.9800
11:85655593:GGT:G	acceptor_gain	0.9800
11:85648087:AAG:A	donor_loss	0.9700
11:85648090:G:GA	donor_loss	0.9700
11:85648091:T:G	donor_loss	0.9700
11:85650246:A:AG	acceptor_gain	0.9700
11:85650246:AAG:A	acceptor_gain	0.9700

AlphaMissense

1260 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
11:85655629:A:C	S106R	0.966
11:85655631:T:A	S106R	0.966
11:85655631:T:G	S106R	0.966
11:85654129:C:A	N51K	0.946
11:85654129:C:G	N51K	0.946
11:85654103:G:C	A43P	0.944
11:85655691:T:A	N126K	0.941
11:85655691:T:G	N126K	0.941
11:85656433:G:T	G174W	0.940
11:85654116:G:A	G47D	0.938
11:85655641:G:C	G110R	0.928
11:85655678:C:A	A122D	0.927
11:85654107:C:A	A44D	0.922
11:85654136:T:C	F54L	0.922
11:85654138:T:A	F54L	0.922
11:85654138:T:G	F54L	0.922
11:85654125:C:A	A50E	0.921
11:85656433:G:A	G174R	0.920
11:85656433:G:C	G174R	0.920
11:85654115:G:C	G47R	0.917
11:85655642:G:A	G110D	0.917
11:85654095:G:A	G40E	0.913
11:85654094:G:A	G40R	0.910
11:85654094:G:C	G40R	0.910
11:85654092:T:A	V39D	0.908
11:85655627:G:C	R105P	0.908
11:85655656:G:C	G115R	0.907
11:85656355:T:A	W148R	0.905
11:85656355:T:C	W148R	0.905
11:85654130:A:C	S52R	0.902

dbSNP variants (sampled 300 via entrez): RS1000398030 (11:85648656 G>A), RS1000450511 (11:85648361 A>C), RS1000734576 (11:85647463 G>A), RS1000842451 (11:85653320 G>A,C,T), RS1001295852 (11:85653014 C>T), RS1001591982 (11:85650474 G>A), RS1001781021 (11:85653715 G>A), RS1002367673 (11:85646845 AAAAAATAAAAAAT>A), RS1002370174 (11:85655282 G>A,T), RS1002814183 (11:85653707 C>T), RS1003741726 (11:85651398 A>G), RS1004001044 (11:85656234 A>G), RS1004872707 (11:85649957 A>G), RS1004879548 (11:85646514 CA>C,CAA), RS1004891692 (11:85656606 A>G)

Disease associations

OMIM: gene MIM:612988 | disease phenotypes: MIM:612989

GenCC curated gene-disease

Disease	Classification	Inheritance
optic atrophy	Definitive	Autosomal recessive
autosomal recessive optic atrophy, OPA7 type	Strong	Autosomal recessive

ClinGen Gene-Disease Validity (2)

Expert-panel classifications — Definitive > Strong > Moderate > Limited > Disputed > Refuted.

Disease	Classification	Inheritance
mitochondrial disease	Definitive	AR
autosomal recessive optic atrophy, OPA7 type	Definitive	AR

Mondo (2): autosomal recessive optic atrophy, OPA7 type (MONDO:0013069), optic atrophy (MONDO:0003608)

Orphanet (2): Autosomal recessive optic atrophy, OPA7 type (Orphanet:227976), Autosomal recessive isolated optic atrophy (Orphanet:98676)

HPO phenotypes

14 total (14 of 14 shown, HPO-id order):

HPO	Term
HP:0000007	Autosomal recessive inheritance
HP:0000407	Sensorineural hearing impairment
HP:0000486	Strabismus
HP:0000505	Visual impairment
HP:0000543	Optic disc pallor
HP:0000603	Central scotoma
HP:0000648	Optic atrophy
HP:0000666	Horizontal nystagmus
HP:0000980	Pallor
HP:0001133	Constriction of peripheral visual field
HP:0001639	Hypertrophic cardiomyopathy
HP:0003828	Variable expressivity
HP:0007641	Dyschromatopsia
HP:0007663	Reduced visual acuity

GWAS associations

1 associations (top):

Study	Trait	p-value
GCST000431_5	Height	3.000000e-06

MeSH disease descriptors (2)

Descriptor	Name	Tree numbers
D009896	Optic Atrophy	C10.292.700.225; C11.640.451
C567833	Optic Atrophy 7 (supp.)

Drugs & pharmacology

Drug and pharmacology data

Is drug target: yes

ChEMBL targets (1): CHEMBL6067127 (SINGLE PROTEIN)

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

ChEMBL bioactivities

2 potent at pChembl≥5 of 2 total, top 2 by pChembl (potency: 10 = 0.1 nM, 6 = 1 µM).

pChembl	Type	Value	Unit	Molecule
5.73	Kd	1844	nM	CHEMBL5653589
5.73	ED50	1844	nM	CHEMBL5653589

PubChem BioAssay actives

1 with measured affinity, of 2 total; 1 most potent distinct compounds. Largely complementary to BindingDB; screening values are coarse (µM, 4 dp), so sub-nM hits tie at the floor.

Compound	Assay	Type	Value	Unit
4-methyl-3-[(2-methyl-6-pyridin-3-ylpyrazolo[3,4-d]pyrimidin-4-yl)amino]-N-[3-(trifluoromethyl)phenyl]benzamide	2149607: Binding affinity to human TMEM126A incubated for 45 mins by Kinobead based pull down assay	kd	1.8442	uM

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Rotenone	decreases expression, increases expression	2
aristolochic acid I	decreases expression	1
dicrotophos	decreases expression	1
bisphenol A	affects cotreatment, increases methylation	1
sodium arsenite	decreases expression	1
CGP 52608	affects binding, increases reaction	1
AM 251	increases expression	1
deguelin	increases expression	1
K 7174	decreases expression	1
Grape Seed Proanthocyanidins	decreases expression, affects cotreatment	1
picoxystrobin	increases expression	1
(+)-JQ1 compound	decreases expression	1
Resveratrol	affects cotreatment, increases expression	1
Fulvestrant	affects cotreatment, increases methylation	1
Air Pollutants	decreases expression, increases abundance	1
Benzo(a)pyrene	decreases methylation	1
Carbamazepine	affects expression	1
Catechin	affects cotreatment, decreases expression	1
Plant Extracts	affects cotreatment, increases expression	1
Quercetin	decreases expression	1
Thiram	increases expression	1
Urethane	decreases expression	1
Valproic Acid	affects expression	1
7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide	decreases expression	1
Cyclosporine	increases expression	1
Aflatoxin B1	increases expression	1
Sodium Selenite	increases expression	1
Lactic Acid	decreases expression	1
Acrylamide	increases expression	1
Particulate Matter	decreases expression, increases abundance	1

ChEMBL screening assays

1 unique, capped per target: 1 binding

Representative assays (with source publication via chembl_document):

Assay ID	Type	Description	Source paper
CHEMBL5652649	Binding	Binding affinity to human TMEM126A incubated for 45 mins by Kinobead based pull down assay	NVP-BHG712: Effects of Regioisomers on the Affinity and Selectivity toward the EPHrin Family. — ChemMedChem

Cellosaurus cell lines

5 cell lines: 5 cancer cell line

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

Cellosaurus	Name	Category	Sex
CVCL_B2IR	Abcam HeLa TMEM126A KO	Cancer cell line	Female
CVCL_TS76	HAP1 TMEM126A (-) 1	Cancer cell line	Male
CVCL_XU39	HAP1 TMEM126A (-) 2	Cancer cell line	Male
CVCL_XU40	HAP1 TMEM126A (-) 3	Cancer cell line	Male
CVCL_XU41	HAP1 TMEM126A (-) 4	Cancer cell line	Male

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT01064505	PHASE1	COMPLETED	Safety Study of a Single IVT Injection of QPI-1007 in Chronic Optic Nerve Atrophy and Recent Onset NAION Patients
NCT05147701	PHASE1	RECRUITING	Safety of Cultured Allogeneic Adult Umbilical Cord Derived Mesenchymal Stem Cells for NAION
NCT02882477	PHASE2/PHASE3	UNKNOWN	Treatment of Wolfram Syndrome Type 2 With the Chelator Deferiprone and Incretin Based Therapy
NCT01834079	PHASE1/PHASE2	UNKNOWN	Study the Safety and Efficacy of Bone Marrow Derived Autologous Cells for the Treatment of Optic Nerve Disease
NCT04680143	PHASE1/PHASE2	COMPLETED	Systemic Erythropoietin Injection in Patients Having Optic Atrophy
NCT03011541	Not specified	RECRUITING	Stem Cell Ophthalmology Treatment Study II
NCT04580979	Not specified	COMPLETED	Natural History Study of FDXR Mutation-related Mitochondriopathy
NCT04594590	Not specified	COMPLETED	Natural History Study of SLC25A46 Mutation-related Mitochondriopathy
NCT04723160	Not specified	COMPLETED	Computer Aided Diagnosis of Multiple Eye Fundus Diseases From Color Fundus Photograph
NCT06390579	Not specified	COMPLETED	Building Research With Artificial Intelligence in Neuro-Ophthalmology