NDUFAF7

Summary

NDUFAF7 (NADH:ubiquinone oxidoreductase complex assembly factor 7, HGNC:28816) is a protein-coding gene on chromosome 2p22.2, encoding Protein arginine methyltransferase NDUFAF7, mitochondrial (Q7L592). Arginine methyltransferase involved in the assembly or stability of mitochondrial NADH:ubiquinone oxidoreductase complex (complex I). It is a selective cancer dependency (DepMap: 22.8% of cell lines).

This gene encodes an assembly factor protein which helps in the assembly and stabilization of Complex I, a large multi-subunit enzyme in the mitochondrial respiratory chain. Complex I is involved in several physiological activities in the cell, including metabolite transport and ATP synthesis. The encoded protein is a methyltransferase which methylates Arg85 of a subunit of Complex I in the early stages of its assembly. A pseudogene related to this gene is located on chromosome 8. Alternative splicing results in multiple transcript variants.

Source: NCBI Gene 55471 — RefSeq curated summary.

At a glance

• Gene–disease (curated): degenerative myopia (Limited, GenCC) — +1 more curated relationship
• GWAS associations: 2
• Clinical variants (ClinVar): 188 total — 2 likely-pathogenic
• Cancer dependency (DepMap): dependent in 22.8% of screened cell lines
• MANE Select transcript: NM_144736

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:28816
Approved symbol	NDUFAF7
Name	NADH:ubiquinone oxidoreductase complex assembly factor 7
Location	2p22.2
Locus type	gene with protein product
Status	Approved
Aliases	PRO1853, MidA
Ensembl gene	ENSG00000003509
Ensembl biotype	protein_coding
OMIM	615898
Entrez	55471

Gene structure

Transcript identifiers

Ensembl transcripts: 20 — 13 protein_coding, 3 retained_intron, 2 protein_coding_CDS_not_defined, 2 nonsense_mediated_decay

ENST00000002125, ENST00000336237, ENST00000416653, ENST00000419278, ENST00000431821, ENST00000432075, ENST00000439218, ENST00000441905, ENST00000455230, ENST00000469831, ENST00000474154, ENST00000474257, ENST00000483999, ENST00000885392, ENST00000885393, ENST00000885394, ENST00000885395, ENST00000885396, ENST00000934435, ENST00000953410

RefSeq mRNA: 5 — MANE Select: NM_144736 NM_001083946, NM_001350024, NM_001350025, NM_001350027, NM_144736

CCDS: CCDS1788, CCDS42673

Canonical transcript exons

ENST00000002125 — 10 exons

Exon	Start	End
ENSE00001917084	37231658	37231760
ENSE00003543720	37237757	37237867
ENSE00003547610	37232106	37232266
ENSE00003623419	37242635	37242693
ENSE00003635260	37246052	37246195
ENSE00003636712	37247456	37247629
ENSE00003639294	37236096	37236176
ENSE00003656565	37241578	37241791
ENSE00003677290	37243863	37243973
ENSE00003687373	37248135	37249160

Expression profiles

Bgee: expression breadth ubiquitous, 265 present calls, max score 96.53.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 20.0195 / max 234.2335, expressed in 1798 samples.

FANTOM5 promoters (3 alternative TSS)

Promoter ID	TPM avg	Samples expressed
19755	19.8325	1798
19756	0.1118	37
19757	0.0752	3

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
left testis	UBERON:0004533	96.53	gold quality
right testis	UBERON:0004534	96.38	gold quality
testis	UBERON:0000473	94.77	gold quality
calcaneal tendon	UBERON:0003701	91.35	gold quality
endothelial cell	CL:0000115	91.21	gold quality
sperm	CL:0000019	90.36	gold quality
left adrenal gland cortex	UBERON:0035825	88.54	gold quality
gastrocnemius	UBERON:0001388	88.46	gold quality
right adrenal gland	UBERON:0001233	88.40	gold quality
left adrenal gland	UBERON:0001234	88.40	gold quality
right adrenal gland cortex	UBERON:0035827	88.25	gold quality
muscle of leg	UBERON:0001383	88.24	gold quality
tendon	UBERON:0000043	88.04	gold quality
adrenal cortex	UBERON:0001235	87.93	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	87.84	gold quality
muscle layer of sigmoid colon	UBERON:0035805	87.81	gold quality
adrenal gland	UBERON:0002369	87.68	gold quality
hindlimb stylopod muscle	UBERON:0004252	87.13	gold quality
stromal cell of endometrium	CL:0002255	87.12	gold quality
male germ cell	CL:0000015	86.90	gold quality
adrenal tissue	UBERON:0018303	86.84	gold quality
heart left ventricle	UBERON:0002084	86.60	gold quality
cardiac ventricle	UBERON:0002082	86.38	gold quality
germinal epithelium of ovary	UBERON:0001304	85.95	gold quality
adult organism	UBERON:0007023	85.83	gold quality
body of pancreas	UBERON:0001150	85.77	gold quality
tibia	UBERON:0000979	85.59	gold quality
right atrium auricular region	UBERON:0006631	85.57	gold quality
ganglionic eminence	UBERON:0004023	85.55	gold quality
tendon of biceps brachii	UBERON:0008188	85.53	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	3.85

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

34 targeting NDUFAF7, 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-3065-5P	99.97	71.56	3281
HSA-MIR-548AJ-3P	99.96	73.38	5345
HSA-MIR-548X-3P	99.96	73.38	5345
HSA-MIR-6778-3P	99.96	67.29	2693
HSA-MIR-548J-3P	99.94	72.61	4881
HSA-MIR-548AE-3P	99.93	72.66	4867
HSA-MIR-548AH-3P	99.93	72.54	4872
HSA-MIR-548AM-3P	99.93	72.54	4872
HSA-MIR-548AQ-3P	99.93	72.66	4867
HSA-MIR-5003-3P	99.85	69.29	2517
HSA-MIR-4694-3P	99.79	69.53	2640
HSA-MIR-4743-3P	99.62	68.12	2095
HSA-MIR-7152-5P	99.60	69.33	2094
HSA-MIR-4328	99.57	71.06	4094
HSA-MIR-17-3P	99.55	66.77	1311
HSA-MIR-7159-5P	99.53	72.12	2472
HSA-MIR-7159-3P	99.51	70.17	1920
HSA-MIR-409-3P	99.50	66.33	1192
HSA-MIR-136-5P	99.50	67.26	1153
HSA-MIR-148A-5P	99.30	68.27	1141
HSA-MIR-4641	99.28	66.64	744
HSA-MIR-4279	99.19	66.70	2437
HSA-MIR-3168	99.08	67.75	1384
HSA-MIR-7151-3P	99.04	69.72	2370
HSA-MIR-619-5P	98.57	64.97	1988
HSA-MIR-4726-3P	98.49	63.89	1385
HSA-MIR-6864-5P	98.38	66.59	1079
HSA-MIR-10395-3P	98.10	66.70	1726
HSA-MIR-635	96.00	65.54	687

Functional genomics

DepMap (CRISPR cell-line fitness): dependent in 22.8% of screened cell lines.

Literature-anchored findings (GeneRIF, showing 4)

• a role for MidA in complex I assembly or stability (PMID:20406883)
• NDUFAF7 methylates arginine 85 in the NDUFS2 subunit of human complex I. (PMID:24089531)
• NDUFAF7 functions to methylate NDUFS2 after it assembles into a complex I, stabilizing an early intermediate in the assembly pathway, and that this function is essential for normal vertebrate development. (PMID:24838397)
• We propose that the heterozygous mutation (c.798C>G) in NDUFAF7 may contribute to the pathogenesis of pathologic myopia, possibly by interfering with the phototransduction cascade. Mitochondrial dysfunction during eye development may lead to pathologic myopia. (PMID:28837730)

Cross-species orthologs

6 orthologs

Organism	Symbol	Gene ID
danio_rerio	ndufaf7	ENSDARG00000033134
mus_musculus	Ndufaf7	ENSMUSG00000024082
rattus_norvegicus	Ndufaf7	ENSRNOG00000005279
rattus_norvegicus	AABR07025743.1	ENSRNOG00000033638
drosophila_melanogaster	CG17726	FBGN0037880
caenorhabditis_elegans		WBGENE00014227

Protein

Protein identifiers

Protein arginine methyltransferase NDUFAF7, mitochondrial — Q7L592 (reviewed: Q7L592)

Alternative names: NADH dehydrogenase [ubiquinone] complex I, assembly factor 7, Protein midA homolog

All UniProt accessions (8): Q7L592, B4DQY3, B4E0W7, C9J236, C9JEL7, C9JP36, C9JS27, H7C3N5

UniProt curated annotations — full annotation on UniProt →

Function. Arginine methyltransferase involved in the assembly or stability of mitochondrial NADH:ubiquinone oxidoreductase complex (complex I). Acts by mediating symmetric dimethylation of ‘Arg-118’ of NDUFS2 after it assembles into the complex I, stabilizing the early intermediate complex.

Subunit / interactions. Interacts with NDUFS2.

Subcellular location. Mitochondrion.

Disease relevance. Defects in NDUFAF7 may be a cause of susceptibility to pathologic myopia, a genetically heterogeneous disorder characterized by extreme, familial, early-onset vision loss and described as myopia accompanied by severe deformation of the eye besides excessive elongation of the eye.

Similarity. Belongs to the NDUFAF7 family.

Isoforms (2)

UniProt ID	Names	Canonical?
Q7L592-1	1	yes
Q7L592-2	2

RefSeq proteins (5): NP_001077415, NP_001336953, NP_001336954, NP_001336956, NP_653337* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR003788	NDUFAF7	Family
IPR029063	SAM-dependent_MTases_sf	Homologous_superfamily
IPR038375	NDUFAF7_sf	Homologous_superfamily

Pfam: PF02636

Catalyzed reactions (Rhea), 1 shown:

• L-arginyl-[protein] + 2 S-adenosyl-L-methionine = N(omega),N(omega)’-dimethyl-L-arginyl-[protein] + 2 S-adenosyl-L-homocysteine + 2 H(+) (RHEA:48108)

UniProt features (7 total): splice variant 2, sequence variant 2, transit peptide 1, chain 1, mutagenesis site 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q7L592-F1	85.54	0.71

Functional residue map

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

Mutagenesis-validated functional residues (1):

Position	Phenotype
124	loss of function.

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: 104 (showing top): RODRIGUES_THYROID_CARCINOMA_ANAPLASTIC_UP, BUYTAERT_PHOTODYNAMIC_THERAPY_STRESS_DN, MODULE_151, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_DN, GOBP_MITOCHONDRIAL_RESPIRATORY_CHAIN_COMPLEX_ASSEMBLY, MARTINEZ_RB1_TARGETS_UP, NAKAMURA_TUMOR_ZONE_PERIPHERAL_VS_CENTRAL_DN, GOBP_METHYLATION, AACTGGA_MIR145, GRADE_COLON_AND_RECTAL_CANCER_UP, MODULE_114, GOCC_MITOCHONDRIAL_MATRIX, GOMF_N_METHYLTRANSFERASE_ACTIVITY, GOMF_PROTEIN_METHYLTRANSFERASE_ACTIVITY, GOMF_S_ADENOSYLMETHIONINE_DEPENDENT_METHYLTRANSFERASE_ACTIVITY

GO Biological Process (3): peptidyl-arginine methylation, to symmetrical-dimethyl arginine (GO:0019918), mitochondrial respiratory chain complex I assembly (GO:0032981), methylation (GO:0032259)

GO Molecular Function (5): methyltransferase activity (GO:0008168), enzyme binding (GO:0019899), protein-arginine omega-N symmetric methyltransferase activity (GO:0035243), protein binding (GO:0005515), transferase activity (GO:0016740)

GO Cellular Component (3): obsolete extracellular space (GO:0005615), mitochondrion (GO:0005739), mitochondrial matrix (GO:0005759)

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
peptidyl-arginine omega-N-methylation	1
NADH dehydrogenase complex assembly	1
mitochondrial respiratory chain complex assembly	1
metabolic process	1
transferase activity, transferring one-carbon groups	1
protein binding	1
protein-arginine N-methyltransferase activity	1
binding	1
catalytic activity	1
cytoplasm	1
intracellular membrane-bounded organelle	1
mitochondrion	1
intracellular organelle lumen	1

Protein interactions and networks

STRING

1062 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
NDUFAF7	NDUFAF5	Q5TEU4	734
NDUFAF7	NDUFS2	O75306	730
NDUFAF7	NDUFAF6	Q330K2	690
NDUFAF7	TMEM126B	Q8IUX1	622
NDUFAF7	NDUFAF2	Q8N183	580
NDUFAF7	NDUFS8	O00217	574
NDUFAF7	NDUFAF1	Q9Y375	571
NDUFAF7	FOXRED1	Q96CU9	565
NDUFAF7	NDUFS7	O75251	558
NDUFAF7	NUBPL	Q8TB37	548
NDUFAF7	MTRF1L	Q9UGC7	536
NDUFAF7	CSKMT	A8MUP2	509
NDUFAF7	ACAD9	Q9H845	506
NDUFAF7	NDUFAF4	Q9P032	493
NDUFAF7	NDUFA7	O95182	491
NDUFAF7	ECSIT	Q9BQ95	491

IntAct

58 interactions, top by confidence:

A	B	Type	Score
NDUFS7	NDUFS8	psi-mi:“MI:0914”(association)	0.640
NDUFAF7	LRRK2	psi-mi:“MI:0407”(direct interaction)	0.620
FNTB	BLTP3B	psi-mi:“MI:0914”(association)	0.530
TRIM44	ODAD3	psi-mi:“MI:0914”(association)	0.530
NPPA	A2ML1	psi-mi:“MI:0914”(association)	0.530
PRAMEF17	AIP	psi-mi:“MI:0914”(association)	0.530
YBEY	NME4	psi-mi:“MI:0914”(association)	0.530
RASL10B	AHCYL1	psi-mi:“MI:0914”(association)	0.530
ALX3	CRTAP	psi-mi:“MI:0914”(association)	0.530
ZNF517	GGPS1	psi-mi:“MI:0914”(association)	0.530
DCAF8	DCAF8L1	psi-mi:“MI:0914”(association)	0.530
UQCRFS1	NDUFAB1	psi-mi:“MI:0914”(association)	0.530
FNTB	CAPN1	psi-mi:“MI:0914”(association)	0.530
GPSM3	ATE1	psi-mi:“MI:0914”(association)	0.530
COX7A2	COX4I1	psi-mi:“MI:0914”(association)	0.480
Top3a		psi-mi:“MI:0915”(physical association)	0.400
UQCRFS1	VWA8	psi-mi:“MI:0914”(association)	0.350
ABHD10	VWA8	psi-mi:“MI:0914”(association)	0.350
MALSU1	VWA8	psi-mi:“MI:0914”(association)	0.350
MRPS18B	IGF2BP3	psi-mi:“MI:0914”(association)	0.350
HMGA2	KPNA4	psi-mi:“MI:0914”(association)	0.350
NAA11	DVL2	psi-mi:“MI:0914”(association)	0.350
NDUFA10	AURKA	psi-mi:“MI:0914”(association)	0.350
OXLD1	PRORP	psi-mi:“MI:0914”(association)	0.350
DMAP1	CETN3	psi-mi:“MI:0914”(association)	0.350
GSX1	YKT6	psi-mi:“MI:0914”(association)	0.350
FEM1A	RNF113A	psi-mi:“MI:0914”(association)	0.350
MRM2	ZZEF1	psi-mi:“MI:0914”(association)	0.350
GPSM3	PHF1	psi-mi:“MI:0914”(association)	0.350

BioGRID (99): NDUFAF7 (Affinity Capture-MS), NDUFAF7 (Affinity Capture-MS), NDUFAF7 (Affinity Capture-MS), NDUFAF7 (Affinity Capture-MS), NDUFAF7 (Affinity Capture-MS), NDUFAF7 (Affinity Capture-MS), NDUFAF7 (Affinity Capture-MS), NDUFAF7 (Affinity Capture-MS), NDUFAF7 (Affinity Capture-MS), NDUFAF7 (Affinity Capture-MS), NDUFAF7 (Affinity Capture-MS), NDUFAF7 (Affinity Capture-MS), NDUFAF7 (Affinity Capture-MS), NDUFAF7 (Affinity Capture-MS), NDUFAF7 (Affinity Capture-MS)

ESM2 similar proteins: A0A193KX02, A0A397HK53, A1Y9I9, A4IG53, A5WWC6, B6CZ46, B6CZ56, B6CZ62, B8NR70, L0TAD5, O42898, P37059, P55205, P58781, P86243, Q0IIS3, Q0P464, Q28C60, Q28DI5, Q2KHV5, Q2VQV9, Q32LS6, Q3V1F8, Q4V339, Q5JTY5, Q5RIA9, Q5XI69, Q5XI79, Q66KL0, Q68EZ3, Q6DCK1, Q6GQ37, Q6PE54, Q6Q2C2, Q6TL19, Q7L592, Q7L5L3, Q8IUF1, Q8IX18, Q8NKC1

Diamond homologs: Q08BY0, Q09644, Q2KHV5, Q54S83, Q5BKM6, Q5XI79, Q6GQ37, Q7L592, Q9CWG8, Q9VGR2

SIGNOR signaling

0 interactions.

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 88 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
Complex I biogenesis	6	16.0×	4e-04
Respiratory electron transport	9	13.8×	6e-06
Aerobic respiration and respiratory electron transport	6	8.6×	9e-03

GO biological processes:

GO term	Partners	Fold	FDR
mitochondrial electron transport, NADH to ubiquinone	6	25.9×	6e-05
proton motive force-driven mitochondrial ATP synthesis	6	19.0×	2e-04
aerobic respiration	6	17.9×	2e-04

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	2
Uncertain significance	103
Likely benign	46
Benign	22

Top pathogenic / likely-pathogenic (2)

Variant ID	HGVS	Classification
418380	NM_144736.5(NDUFAF7):c.644A>G (p.His215Arg)	Likely pathogenic
503927	NM_144736.5(NDUFAF7):c.96_100del (p.Asn33fs)	Likely pathogenic

SpliceAI

1432 predictions. Top by Δscore:

Variant	Effect	Δscore
2:37232243:G:GT	donor_gain	1.0000
2:37236156:A:AG	donor_gain	1.0000
2:37236156:A:G	donor_gain	1.0000
2:37237754:C:G	acceptor_gain	1.0000
2:37237755:A:AG	acceptor_gain	1.0000
2:37237756:G:GA	acceptor_gain	1.0000
2:37237756:GCTA:G	acceptor_gain	1.0000
2:37241568:T:TA	acceptor_gain	1.0000
2:37241569:G:A	acceptor_gain	1.0000
2:37241572:A:AG	acceptor_gain	1.0000
2:37241573:T:G	acceptor_gain	1.0000
2:37241573:TTTA:T	acceptor_loss	1.0000
2:37241574:TTA:T	acceptor_loss	1.0000
2:37241575:TA:T	acceptor_loss	1.0000
2:37241576:A:AG	acceptor_gain	1.0000
2:37241576:A:T	acceptor_loss	1.0000
2:37241576:AG:A	acceptor_gain	1.0000
2:37241576:AGGT:A	acceptor_gain	1.0000
2:37241577:G:GT	acceptor_gain	1.0000
2:37241577:GG:G	acceptor_gain	1.0000
2:37241577:GGT:G	acceptor_gain	1.0000
2:37241577:GGTG:G	acceptor_gain	1.0000
2:37241577:GGTGT:G	acceptor_gain	1.0000
2:37243861:A:AG	acceptor_gain	1.0000
2:37243862:G:GA	acceptor_gain	1.0000
2:37243862:GA:G	acceptor_gain	1.0000
2:37243862:GAA:G	acceptor_gain	1.0000
2:37243862:GAAA:G	acceptor_gain	1.0000
2:37243862:GAAAA:G	acceptor_gain	1.0000
2:37243970:ACAAG:A	donor_loss	1.0000

AlphaMissense

2878 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
2:37242659:A:T	E216V	0.993
2:37236138:T:C	F87L	0.992
2:37236140:C:A	F87L	0.992
2:37236140:C:G	F87L	0.992
2:37232234:T:G	Y62D	0.990
2:37247528:T:C	F337L	0.990
2:37247530:C:A	F337L	0.990
2:37247530:C:G	F337L	0.990
2:37237758:T:C	L100P	0.989
2:37241761:T:A	W198R	0.989
2:37241761:T:C	W198R	0.989
2:37242689:T:C	F226S	0.989
2:37236159:A:C	S94R	0.988
2:37236161:T:A	S94R	0.988
2:37236161:T:G	S94R	0.988
2:37242660:A:C	E216D	0.988
2:37242660:A:T	E216D	0.988
2:37248228:T:C	F402L	0.988
2:37248230:T:A	F402L	0.988
2:37248230:T:G	F402L	0.988
2:37237764:G:A	G102D	0.987
2:37237769:T:A	W104R	0.987
2:37237769:T:C	W104R	0.987
2:37243894:T:A	V238D	0.987
2:37247459:T:C	F314L	0.987
2:37247461:T:A	F314L	0.987
2:37247461:T:G	F314L	0.987
2:37232190:T:C	L47P	0.986
2:37232235:A:C	Y62S	0.986
2:37237763:G:C	G102R	0.986

dbSNP variants (sampled 300 via entrez): RS1000027274 (2:37250290 G>A), RS1000263070 (2:37255452 C>G), RS1000347166 (2:37232661 C>G), RS1000401779 (2:37265574 C>T), RS1000460126 (2:37264054 C>A,T), RS1000522053 (2:37238748 A>G), RS1000586709 (2:37233587 A>G), RS1000604403 (2:37264332 C>T), RS1000641386 (2:37270901 C>A,G,T), RS1000677958 (2:37243252 A>C), RS1000733216 (2:37264527 G>A), RS1000792090 (2:37265154 G>C), RS1000846266 (2:37265346 G>A), RS1000890965 (2:37239374 C>G), RS1000964028 (2:37239554 C>G,T)

Disease associations

OMIM: gene MIM:615898 | disease phenotypes:

GenCC curated gene-disease

Disease	Classification	Inheritance
degenerative myopia	Limited	Autosomal dominant

ClinGen Gene-Disease Validity (1)

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

Disease	Classification	Inheritance
mitochondrial disease	Disputed	AD

Mondo (2): mitochondrial complex I deficiency (MONDO:0100133), degenerative myopia (MONDO:0001383)

Orphanet (1): Isolated complex I deficiency (Orphanet:2609)

HPO phenotypes

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

GWAS associations

2 associations (top):

Study	Trait	p-value
GCST002149_12	Schizophrenia	7.000000e-09
GCST012182_14	Alzheimer’s disease	1.000000e-09

MeSH disease descriptors (2)

Descriptor	Name	Tree numbers
D047728	Myopia, Degenerative	C11.744.636.500
C537475	Mitochondrial complex I deficiency (supp.)

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

19 total (human), top 19 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
entinostat	increases expression, affects cotreatment	2
dicrotophos	decreases expression	1
urushiol	increases expression	1
triphenyl phosphate	affects expression	1
beta-lapachone	decreases expression	1
K 7174	increases expression	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, increases expression	1
ICG 001	increases expression	1
dorsomorphin	affects cotreatment, increases 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
Resveratrol	affects cotreatment, increases expression	1
Temozolomide	decreases expression	1
Acetaminophen	decreases expression	1
Carbamazepine	affects expression	1
Formaldehyde	decreases expression	1
Hydrogen Peroxide	increases expression	1
Plant Extracts	affects cotreatment, increases expression	1
Valproic Acid	decreases methylation	1
Cadmium Chloride	decreases expression	1

Cellosaurus cell lines

2 cell lines: 2 cancer cell line

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

Cellosaurus	Name	Category	Sex
CVCL_E2DB	HAP1 NDUFAF7 (-) 1	Cancer cell line	Male
CVCL_E2DC	HAP1 NDUFAF7 (-) 2	Cancer cell line	Male

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT05162768	PHASE3	COMPLETED	Study to Evaluate Efficacy and Safety of Elamipretide in Subjects With Primary Mitochondrial Disease From Nuclear DNA Mutations (nPMD)
NCT00407719	PHASE1	COMPLETED	Bevicizumab (Avastin) Infusion for Choroidal Neovascularization (CNV) Not Associated With Age-Related Macular Degeneration (AMD)