ATPAF2

Summary

ATPAF2 (ATP synthase mitochondrial F1 complex assembly factor 2, HGNC:18802) is a protein-coding gene on chromosome 17p11.2, encoding ATP synthase mitochondrial F1 complex assembly factor 2 (Q8N5M1). Plays a role in the assembly of the F1 component of the mitochondrial ATP synthase (ATPase).

This gene encodes an assembly factor for the F(1) component of the mitochondrial ATP synthase. This protein binds specifically to the F1 alpha subunit and is thought to prevent this subunit from forming nonproductive homooligomers during enzyme assembly. This gene is located within the Smith-Magenis syndrome region on chromosome 17. An alternatively spliced transcript variant has been described, but its biological validity has not been determined.

Source: NCBI Gene 91647 — RefSeq curated summary.

At a glance

• Gene–disease (curated): mitochondrial proton-transporting ATP synthase complex deficiency (Supportive, GenCC) — +2 more curated relationships
• GWAS associations: 7
• Clinical variants (ClinVar): 261 total — 1 pathogenic, 3 likely-pathogenic
• Phenotypes (HPO): 61
• Dosage sensitivity (ClinGen): haploinsufficiency autosomal recessive, triplosensitivity no evidence
• MANE Select transcript: NM_145691

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:18802
Approved symbol	ATPAF2
Name	ATP synthase mitochondrial F1 complex assembly factor 2
Location	17p11.2
Locus type	gene with protein product
Status	Approved
Aliases	Atp12p, ATP12, LP3663, MGC29736
Ensembl gene	ENSG00000171953
Ensembl biotype	protein_coding
OMIM	608918
Entrez	91647

Gene structure

Transcript identifiers

Ensembl transcripts: 13 — 5 retained_intron, 4 protein_coding, 2 nonsense_mediated_decay, 2 protein_coding_CDS_not_defined

ENST00000444058, ENST00000462733, ENST00000465337, ENST00000467560, ENST00000469327, ENST00000474627, ENST00000488753, ENST00000496852, ENST00000497871, ENST00000577586, ENST00000581698, ENST00000584205, ENST00000585101

RefSeq mRNA: 1 — MANE Select: NM_145691 NM_145691

CCDS: CCDS32585

Canonical transcript exons

ENST00000474627 — 8 exons

Exon	Start	End
ENSE00002723418	18038881	18039168
ENSE00003227884	18018021	18018686
ENSE00003490525	18026319	18026416
ENSE00003490989	18028615	18028659
ENSE00003520410	18024624	18024704
ENSE00003621748	18021123	18021238
ENSE00003669800	18028232	18028377
ENSE00003790796	18021745	18021857

Expression profiles

Bgee: expression breadth ubiquitous, 226 present calls, max score 93.72.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 18.9036 / max 129.6972, expressed in 1817 samples.

FANTOM5 promoters (1 alternative TSS)

Promoter ID	TPM avg	Samples expressed
164811	18.9036	1817

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
right testis	UBERON:0004534	93.72	gold quality
left testis	UBERON:0004533	93.71	gold quality
hindlimb stylopod muscle	UBERON:0004252	93.00	gold quality
granulocyte	CL:0000094	92.49	gold quality
apex of heart	UBERON:0002098	91.47	gold quality
testis	UBERON:0000473	90.51	gold quality
monocyte	CL:0000576	90.31	gold quality
lower esophagus mucosa	UBERON:0035834	90.17	gold quality
right adrenal gland	UBERON:0001233	90.16	gold quality
mucosa of transverse colon	UBERON:0004991	90.15	gold quality
mononuclear cell	CL:0000842	89.94	gold quality
leukocyte	CL:0000738	89.89	gold quality
right lobe of liver	UBERON:0001114	89.89	gold quality
right adrenal gland cortex	UBERON:0035827	89.59	gold quality
left adrenal gland cortex	UBERON:0035825	89.53	gold quality
left adrenal gland	UBERON:0001234	89.37	gold quality
heart left ventricle	UBERON:0002084	89.06	gold quality
right atrium auricular region	UBERON:0006631	88.62	gold quality
cardiac ventricle	UBERON:0002082	88.53	gold quality
skin of leg	UBERON:0001511	88.40	gold quality
right uterine tube	UBERON:0001302	88.28	gold quality
gastrocnemius	UBERON:0001388	88.20	gold quality
muscle of leg	UBERON:0001383	88.02	gold quality
skin of abdomen	UBERON:0001416	87.83	gold quality
adrenal gland	UBERON:0002369	87.77	gold quality
adrenal cortex	UBERON:0001235	87.71	gold quality
right lobe of thyroid gland	UBERON:0001119	87.04	gold quality
heart	UBERON:0000948	86.87	gold quality
cardiac atrium	UBERON:0002081	86.83	gold quality
esophagus mucosa	UBERON:0002469	86.63	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

miRNA regulators (miRDB)

31 targeting ATPAF2, 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-4668-3P	100.00	68.74	2635
HSA-MIR-4531	99.99	69.70	3181
HSA-MIR-3180-5P	99.82	69.12	2422
HSA-MIR-4719	99.73	72.10	3329
HSA-MIR-3975	99.62	65.97	697
HSA-MIR-4516	99.61	67.78	3390
HSA-MIR-4649-3P	99.56	66.90	1783
HSA-MIR-10522-5P	99.26	68.50	2087
HSA-MIR-7160-5P	99.11	67.17	2207
HSA-MIR-485-5P	99.10	64.78	1889
HSA-MIR-6884-5P	99.10	64.50	1987
HSA-MIR-4434	99.10	67.01	1984
HSA-MIR-5703	99.10	67.09	2053
HSA-MIR-4478	99.07	65.16	2320
HSA-MIR-2467-3P	98.65	67.18	1969
HSA-MIR-3188	98.58	65.60	878
HSA-MIR-7114-5P	98.51	67.87	1349
HSA-MIR-3929	98.32	65.58	1026
HSA-MIR-4518	98.12	66.82	1030
HSA-MIR-30C-1-3P	97.80	66.36	1499
HSA-MIR-30C-2-3P	97.80	66.45	1499
HSA-MIR-6893-3P	97.79	64.91	1238
HSA-MIR-1266-5P	97.71	66.92	1052
HSA-MIR-2467-5P	97.36	67.71	991
HSA-MIR-4445-5P	97.21	66.16	832
HSA-MIR-8056	97.15	64.49	769
HSA-MIR-939-5P	97.10	65.80	1579
HSA-MIR-370-3P	97.09	64.92	1221
HSA-MIR-3194-5P	96.80	64.90	1027
HSA-MIR-1343-5P	96.48	66.06	1506

Functional genomics

ClinGen dosage: haploinsufficiency 30 (autosomal recessive), triplosensitivity 0 (no evidence). ClinGen Gene Dosage Map

Literature-anchored findings (GeneRIF, showing 2)

• Data show that wild type human Atp12p rescues the respiratory defect of a yeast ATP12 deletion mutant (Deltaatp12). (PMID:19933271)
• Two possible dementia susceptibility genes including ATPAF2 and TOM1L2 near SREBF1 locus were identified. (PMID:20167577)

Cross-species orthologs

5 orthologs

Organism	Symbol	Gene ID
danio_rerio	atpaf2	ENSDARG00000056270
mus_musculus	Atpaf2	ENSMUSG00000042709
rattus_norvegicus	Atpaf2	ENSRNOG00000003719
drosophila_melanogaster	l(2)k14505	FBGN0021856
caenorhabditis_elegans		WBGENE00013804

Protein

Protein identifiers

ATP synthase mitochondrial F1 complex assembly factor 2 — Q8N5M1 (reviewed: Q8N5M1)

Alternative names: ATP12 homolog

All UniProt accessions (4): Q8N5M1, C9J2Q2, J3KTB2, K7ELC1

UniProt curated annotations — full annotation on UniProt →

Function. Plays a role in the assembly of the F1 component of the mitochondrial ATP synthase (ATPase).

Subunit / interactions. Interacts with ATP5F1B; involved in the assembly of the F1 component of the mitochondrial ATP synthase (ATPase). Interacts with FMC1.

Subcellular location. Mitochondrion inner membrane.

Tissue specificity. Widely expressed.

Disease relevance. Mitochondrial complex V deficiency, nuclear type 1 (MC5DN1) [MIM:604273] A mitochondrial disorder with heterogeneous clinical manifestations including dysmorphic features, psychomotor retardation, hypotonia, growth retardation, cardiomyopathy, enlarged liver, hypoplastic kidneys and elevated lactate levels in urine, plasma and cerebrospinal fluid. The disease is caused by variants affecting the gene represented in this entry.

Similarity. Belongs to the ATP12 family.

RefSeq proteins (1): NP_663729* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR011419	ATP12_ATP_synth-F1-assembly	Family
IPR023335	ATP12_ortho_dom_sf	Homologous_superfamily
IPR042272	ATP12_ATP_synth-F1-assembly_N	Homologous_superfamily

Pfam: PF07542

UniProt features (5 total): transit peptide 1, chain 1, region of interest 1, modified residue 1, sequence variant 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q8N5M1-F1	86.07	0.78

Functional residue map

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

Post-translational modifications (1): 133

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 256 (showing top): GSE45365_CD8A_DC_VS_CD11B_DC_IFNAR_KO_DN, GSE45365_HEALTHY_VS_MCMV_INFECTION_CD8_TCELL_IFNAR_KO_DN, GSE18804_BRAIN_VS_COLON_TUMORAL_MACROPHAGE_DN, BROWNE_HCMV_INFECTION_6HR_DN, RORA1_01, GOBP_MITOCHONDRIAL_RESPIRATORY_CHAIN_COMPLEX_ASSEMBLY, MARTINEZ_RB1_TARGETS_UP, MCBRYAN_PUBERTAL_BREAST_4_5WK_DN, GOCC_MITOCHONDRIAL_ENVELOPE, RGAGGAARY_PU1_Q6, MODULE_207, MARTINEZ_RB1_AND_TP53_TARGETS_UP, GOCC_NUCLEAR_SPECK, YAGI_AML_WITH_11Q23_REARRANGED, GOCC_NUCLEAR_BODY

GO Biological Process (2): mitochondrial proton-transporting ATP synthase complex assembly (GO:0033615), proton-transporting ATP synthase complex assembly (GO:0043461)

GO Molecular Function (1): protein binding (GO:0005515)

GO Cellular Component (5): mitochondrion (GO:0005739), mitochondrial inner membrane (GO:0005743), cytosol (GO:0005829), nuclear speck (GO:0016607), membrane (GO:0016020)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cytoplasm	2
cellular anatomical structure	2
mitochondrion	1
mitochondrial respiratory chain complex assembly	1
proton-transporting ATP synthase complex assembly	1
proton-transporting two-sector ATPase complex assembly	1
binding	1
intracellular membrane-bounded organelle	1
organelle inner membrane	1
mitochondrial membrane	1
nuclear ribonucleoprotein granule	1

Protein interactions and networks

STRING

1526 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
ATPAF2	ATPAF1	Q5TC12	980
ATPAF2	ATP5F1A	P25705	971
ATPAF2	TMEM70	Q9BUB7	957
ATPAF2	ATP5F1B	P06576	947
ATPAF2	MT-ATP8	P03928	878
ATPAF2	MT-ATP6	P00846	845
ATPAF2	ATP5F1C	P36542	837
ATPAF2	ATP5F1E	P56381	673
ATPAF2	ATP23	Q9Y6H3	607
ATPAF2	ATP5F1D	P30049	556
ATPAF2	ATP5PB	P24539	518
ATPAF2	COX15	Q7KZN9	502
ATPAF2	SURF1	Q15526	495
ATPAF2	NDUFAB1	O14561	469
ATPAF2	SCO1	O75880	458

IntAct

380 interactions, top by confidence:

A	B	Type	Score
SPG21	ATPAF2	psi-mi:“MI:0915”(physical association)	0.890
ATPAF2	SPG21	psi-mi:“MI:0915”(physical association)	0.890
ATPAF2	PRDM14	psi-mi:“MI:0915”(physical association)	0.850
IKZF3	ATPAF2	psi-mi:“MI:0915”(physical association)	0.850
ATPAF2	IKZF3	psi-mi:“MI:0915”(physical association)	0.850
ATPAF2	ATP5F1B	psi-mi:“MI:0915”(physical association)	0.850
MAGEA6	ATPAF2	psi-mi:“MI:0915”(physical association)	0.810
RPIA	ATPAF2	psi-mi:“MI:0915”(physical association)	0.810
ATPAF2	LNX1	psi-mi:“MI:0915”(physical association)	0.810
ATPAF2	EBF1	psi-mi:“MI:0915”(physical association)	0.810
ATPAF2	MAGEA6	psi-mi:“MI:0915”(physical association)	0.810

BioGRID (175): ATPAF2 (Two-hybrid), ATPAF2 (Two-hybrid), ATPAF2 (Two-hybrid), ATPAF2 (Two-hybrid), ATPAF2 (Two-hybrid), ATPAF2 (Two-hybrid), ATPAF2 (Two-hybrid), ATPAF2 (Two-hybrid), ATPAF2 (Two-hybrid), ATPAF2 (Two-hybrid), ATPAF2 (Two-hybrid), ATPAF2 (Two-hybrid), ATPAF2 (Two-hybrid), ATPAF2 (Two-hybrid), ATPAF2 (Two-hybrid)

ESM2 similar proteins: A0A7C9FSB8, A2TLM1, A6H7H7, B8BKI7, B9N1F9, B9SQI7, D2XV59, E0CSI1, F1N9S8, O00178, O08582, O35586, O35760, O48964, O48965, O76031, O81770, P11029, P11497, P58044, P69341, Q0J035, Q13085, Q13907, Q14165, Q1LZ95, Q1LZ96, Q28559, Q2R483, Q38929, Q39471, Q39472, Q39664, Q3UMR5, Q42553, Q4R4W5, Q5NVE1, Q5R8R6, Q5SWU9, Q5U2U0

Diamond homologs: Q1LZ96, Q8N5M1, Q91YY4, Q9UT16, P22135

SIGNOR signaling

0 interactions.

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 72 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
Mitochondrial protein degradation	6	15.6×	3e-04
Keratinization	6	7.6×	7e-03

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	1
Likely pathogenic	3
Uncertain significance	148
Likely benign	66
Benign	18

Top pathogenic / likely-pathogenic (4)

Variant ID	HGVS	Classification
1703553	Single allele	Pathogenic
4845818	NM_145691.4(ATPAF2):c.436G>T (p.Glu146Ter)	Likely pathogenic
4849379	NM_145691.4(ATPAF2):c.179-2A>G	Likely pathogenic
930235	NM_145691.4(ATPAF2):c.98del (p.Ile33fs)	Likely pathogenic

SpliceAI

3716 predictions. Top by Δscore:

Variant	Effect	Δscore
17:17977728:G:GT	donor_gain	1.0000
17:17977754:TCGGA:T	donor_gain	1.0000
17:17977756:GGA:G	donor_gain	1.0000
17:17977757:GA:G	donor_gain	1.0000
17:17977757:GAG:G	donor_gain	1.0000
17:17977759:G:GG	donor_gain	1.0000
17:17983821:A:AG	acceptor_gain	1.0000
17:17983823:TTCA:T	acceptor_loss	1.0000
17:17983824:TCA:T	acceptor_loss	1.0000
17:17983826:A:AG	acceptor_gain	1.0000
17:17983826:AG:A	acceptor_loss	1.0000
17:17983827:G:GT	acceptor_gain	1.0000
17:17983827:GA:G	acceptor_gain	1.0000
17:17983827:GAC:G	acceptor_gain	1.0000
17:17983827:GACA:G	acceptor_gain	1.0000
17:17983827:GACAT:G	acceptor_gain	1.0000
17:17983940:GCTGG:G	donor_gain	1.0000
17:17983943:GG:G	donor_gain	1.0000
17:17983944:GG:G	donor_gain	1.0000
17:17983945:G:GG	donor_gain	1.0000
17:17983945:G:T	donor_loss	1.0000
17:17983946:TAA:T	donor_loss	1.0000
17:17987927:CCCAG:C	acceptor_loss	1.0000
17:17987928:CCA:C	acceptor_loss	1.0000
17:17987930:A:AG	acceptor_gain	1.0000
17:17987931:G:GA	acceptor_gain	1.0000
17:17987931:GAT:G	acceptor_gain	1.0000
17:17987931:GATC:G	acceptor_gain	1.0000
17:17987931:GATCT:G	acceptor_gain	1.0000
17:17988094:TGAAC:T	donor_gain	1.0000

AlphaMissense

1876 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
17:18028276:A:G	W94R	0.999
17:18028276:A:T	W94R	0.999
17:18021745:C:A	G206W	0.998
17:18028274:C:A	W94C	0.998
17:18028274:C:G	W94C	0.998
17:18028285:C:G	A91P	0.998
17:18021142:C:G	R238P	0.997
17:18028646:A:C	F49L	0.997
17:18028646:A:T	F49L	0.997
17:18028648:A:G	F49L	0.997
17:18021745:C:G	G206R	0.996
17:18021745:C:T	G206R	0.996
17:18024655:A:G	W158R	0.996
17:18024655:A:T	W158R	0.996
17:18026329:C:G	D138H	0.996
17:18026405:G:C	C112W	0.996
17:18026407:A:G	C112R	0.996
17:18028275:C:G	W94S	0.996
17:18018620:C:G	A267P	0.995
17:18028296:G:T	A87D	0.995
17:18028314:A:T	V81D	0.995
17:18028365:A:T	I64K	0.995
17:18018625:C:G	R265P	0.994
17:18021208:G:A	S216F	0.994
17:18021238:C:T	G206E	0.994
17:18028365:A:C	I64R	0.994
17:18018613:C:T	G269D	0.993
17:18018677:A:G	W248R	0.993
17:18018677:A:T	W248R	0.993
17:18026329:C:A	D138Y	0.993

dbSNP variants (sampled 300 via entrez): RS1000088630 (17:18036968 G>C), RS1000106486 (17:18038103 C>T), RS1000137223 (17:18017553 G>A), RS1000654676 (17:18033560 C>G,T), RS1000681912 (17:18018047 A>C), RS1000706333 (17:18018880 A>G), RS1000922876 (17:18033940 C>T), RS1001096676 (17:18039479 G>A,T), RS1001115296 (17:18022673 GC>G), RS1001215448 (17:18038977 G>T), RS1001358665 (17:18032783 T>G), RS1001507091 (17:18017380 G>A), RS1001601936 (17:18017116 G>C), RS1001837439 (17:18015925 G>A), RS1001891924 (17:18032471 C>T)

Disease associations

OMIM: gene MIM:608918 | disease phenotypes: MIM:604273, MIM:610883

GenCC curated gene-disease

Disease	Classification	Inheritance
mitochondrial proton-transporting ATP synthase complex deficiency	Supportive	Autosomal recessive
mitochondrial complex V (ATP synthase) deficiency, nuclear type 1	Limited	Autosomal recessive

ClinGen Gene-Disease Validity (1)

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

Disease	Classification	Inheritance
mitochondrial disease	Limited	AR

Mondo (4): mitochondrial complex V (ATP synthase) deficiency, nuclear type 1 (MONDO:0011421), Potocki-Lupski syndrome (MONDO:0012574), microcephaly (MONDO:0001149), mitochondrial proton-transporting ATP synthase complex deficiency (MONDO:0014471)

Orphanet (2): Isolated ATP synthase deficiency (Orphanet:254913), 17p11.2 microduplication syndrome (Orphanet:1713)

HPO phenotypes

61 total (30 of 61 shown, HPO-id order):

HPO	Term
HP:0000007	Autosomal recessive inheritance
HP:0000089	Renal hypoplasia
HP:0000135	Hypogonadism
HP:0000154	Wide mouth
HP:0000252	Microcephaly
HP:0000278	Retrognathia
HP:0000347	Micrognathia
HP:0000407	Sensorineural hearing impairment
HP:0000426	Prominent nasal bridge
HP:0000486	Strabismus
HP:0000508	Ptosis
HP:0000510	Rod-cone dystrophy
HP:0000518	Cataract
HP:0000602	Ophthalmoplegia
HP:0000618	Blindness
HP:0000639	Nystagmus
HP:0000648	Optic atrophy
HP:0000821	Hypothyroidism
HP:0001250	Seizure
HP:0001251	Ataxia
HP:0001252	Hypotonia
HP:0001254	Lethargy
HP:0001258	Spastic paraplegia
HP:0001260	Dysarthria
HP:0001270	Motor delay
HP:0001272	Cerebellar atrophy
HP:0001276	Hypertonia
HP:0001298	Encephalopathy
HP:0001324	Muscle weakness
HP:0001332	Dystonia

GWAS associations

7 associations (top):

Study	Trait	p-value
GCST002539_86	Schizophrenia	2.000000e-08
GCST004946_149	Schizophrenia	7.000000e-10
GCST006803_40	Schizophrenia	3.000000e-08
GCST009600_100	Anorexia nervosa, attention-deficit/hyperactivity disorder, autism spectrum disorder, bipolar disorder, major depression, obsessive-compulsive disorder, schizophrenia, or Tourette syndrome (pleiotropy)	2.000000e-08
GCST90020025_1403	Waist-to-hip ratio adjusted for BMI	5.000000e-10
GCST90020027_30	Waist-hip index	1.000000e-10
GCST90020029_584	Waist circumference adjusted for body mass index	1.000000e-08

EFO canonical traits (2, from GWAS)

EFO ID	Trait name
EFO:0007788	BMI-adjusted waist-hip ratio
EFO:0007789	BMI-adjusted waist circumference

MeSH disease descriptors (1)

Descriptor	Name	Tree numbers
D008831	Microcephaly	C05.660.207.620; C10.500.507.400.500; C16.131.621.207.620; C16.131.666.507.400.500

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

16 total (human), top 16 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
sodium arsenite	affects expression, increases expression	2
Valproic Acid	decreases methylation, increases expression	2
triphenyl phosphate	affects expression	1
bisphenol A	decreases methylation	1
tamibarotene	affects expression	1
di-n-butylphosphoric acid	affects expression	1
CGP 52608	affects binding, increases reaction	1
corosolic acid	decreases expression	1
Acetaminophen	increases expression	1
Doxorubicin	decreases expression	1
Hydrogen Peroxide	affects cotreatment, decreases expression	1
Methyl Methanesulfonate	increases expression	1
Potassium Dichromate	increases expression	1
Theophylline	affects cotreatment, decreases expression	1
Tretinoin	affects expression	1
Okadaic Acid	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_SE25	HAP1 ATPAF2 (-) 1	Cancer cell line	Male
CVCL_SE26	HAP1 ATPAF2 (-) 2	Cancer cell line	Male

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT05518188	PHASE1/PHASE2	RECRUITING	Melpida: Recombinant Adeno-associated Virus (serotype 9) Encoding a Codon Optimized Human AP4M1 Transgene (hAP4M1opt)
NCT00001639	Not specified	COMPLETED	Evaluation of Patients With Unresolved Chromosome Abnormalities
NCT01151462	Not specified	WITHDRAWN	Postnatal HCMV Infection in Very Preterm Infants. Implications, Morbidity, Growth and Neurodevelopmental Outcomes.
NCT01565005	Not specified	COMPLETED	Microcephaly Genetic Deficiency in Neural Progenitors
NCT02510170	Not specified	COMPLETED	Fetal and Maternal Head Circumference During Pregnancy in Israeli Population
NCT02741882	Not specified	COMPLETED	Zika and Microcephaly: Case-control Study
NCT02943304	Not specified	COMPLETED	Neurodevelopment Outcome of Newborns Exposed to Zika Virus (ZIKV) in Utero
NCT03255369	Not specified	UNKNOWN	Vertical Exposure to Zika Virus and Its Consequences for Child Neurodevelopment (ZIKVIRUSIFF)
NCT03325946	Not specified	RECRUITING	The FBRI VTC Neuromotor Research Clinic
NCT03330600	Not specified	COMPLETED	Efficacy of Aquatic Physiotherapy in Children With Microcephaly by Zika Virus Congenital Syndrome
NCT03548779	Not specified	COMPLETED	North Carolina Genomic Evaluation by Next-generation Exome Sequencing, 2
NCT03651687	Not specified	COMPLETED	Guangzhou Surveillance and Clinical Study in Microcephaly (GSCSM)
NCT03922594	Not specified	TERMINATED	Surveillance of Zika-related Microcephaly in Sub-Saharan Africa and Asia
NCT04816175	Not specified	COMPLETED	Intensive Therapy for Children With Microcephaly, Hyperkinetic Movements, or Global Developmental Delay
NCT05322980	Not specified	COMPLETED	Summary of Infants Weighing 500 Grams or Less
NCT06019182	Not specified	RECRUITING	MEHMO Natural History and Biomarkers
NCT06566066	Not specified	RECRUITING	Register for Patients With Thyroid Hormone Resistance.