COX11

Summary

COX11 (cytochrome c oxidase copper chaperone COX11, HGNC:2261) is a protein-coding gene on chromosome 17q22, encoding Cytochrome c oxidase assembly protein COX11, mitochondrial (Q9Y6N1). Assembly factor for cytochrome c oxidase (respiratory chain complex IV, CIV). It is a selective cancer dependency (DepMap: 27.4% of cell lines).

Cytochrome c oxidase (COX), the terminal component of the mitochondrial respiratory chain, catalyzes the electron transfer from reduced cytochrome c to oxygen. This component is a heteromeric complex consisting of 3 catalytic subunits encoded by mitochondrial genes and multiple structural subunits encoded by nuclear genes. The mitochondrially-encoded subunits function in electron transfer, and the nuclear-encoded subunits may function in the regulation and assembly of the complex. This nuclear gene encodes a protein which is not a structural subunit, but may be a heme A biosynthetic enzyme involved in COX formation, according to the yeast mutant studies. However, the studies in Rhodobacter sphaeroides suggest that this gene is not required for heme A biosynthesis, but required for stable formation of the Cu(B) and magnesium centers of COX. This human protein is predicted to contain a transmembrane domain localized in the mitochondrial inner membrane. Multiple transcript variants encoding different isoforms have been found for this gene. A related pseudogene has been found on chromosome 6.

Source: NCBI Gene 1353 — RefSeq curated summary.

At a glance

• Gene–disease (curated): mitochondrial disease (Limited, ClinGen) — +1 more curated relationship
• GWAS associations: 4
• Clinical variants (ClinVar): 54 total — 4 pathogenic
• Phenotypes (HPO): 30
• Cancer dependency (DepMap): dependent in 27.4% of screened cell lines
• MANE Select transcript: NM_004375

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:2261
Approved symbol	COX11
Name	cytochrome c oxidase copper chaperone COX11
Location	17q22
Locus type	gene with protein product
Status	Approved
Aliases	COX11P
Ensembl gene	ENSG00000166260
Ensembl biotype	protein_coding
OMIM	603648
Entrez	1353

Gene structure

Transcript identifiers

Ensembl transcripts: 11 — 4 protein_coding, 3 nonsense_mediated_decay, 2 retained_intron, 2 protein_coding_CDS_not_defined

ENST00000299335, ENST00000571584, ENST00000572088, ENST00000572558, ENST00000573912, ENST00000574821, ENST00000574989, ENST00000576084, ENST00000576370, ENST00000851999, ENST00000964576

RefSeq mRNA: 4 — MANE Select: NM_004375 NM_001162861, NM_001162862, NM_001321518, NM_004375

CCDS: CCDS11583, CCDS58579, CCDS82162

Canonical transcript exons

ENST00000299335 — 4 exons

Exon	Start	End
ENSE00001389405	54960422	54962915
ENSE00002647906	54968281	54968654
ENSE00003820688	54964697	54964852
ENSE00003825429	54963306	54963431

Expression profiles

Bgee: expression breadth ubiquitous, 298 present calls, max score 97.86.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 19.6121 / max 244.0114, expressed in 1801 samples.

FANTOM5 promoters (4 alternative TSS)

Promoter ID	TPM avg	Samples expressed
167071	17.5467	1789
167072	0.9565	675
167073	0.8941	639
167070	0.2149	41

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
biceps brachii	UBERON:0001507	97.86	gold quality
skeletal muscle tissue of biceps brachii	UBERON:0004502	97.57	gold quality
caput epididymis	UBERON:0004358	97.48	gold quality
heart right ventricle	UBERON:0002080	97.16	gold quality
corpus epididymis	UBERON:0004359	96.96	gold quality
vastus lateralis	UBERON:0001379	96.64	gold quality
cauda epididymis	UBERON:0004360	96.50	gold quality
quadriceps femoris	UBERON:0001377	96.20	gold quality
jejunum	UBERON:0002115	96.14	gold quality
pigmented layer of retina	UBERON:0001782	96.12	gold quality
retina	UBERON:0000966	96.10	gold quality
jejunal mucosa	UBERON:0000399	95.95	gold quality
diaphragm	UBERON:0001103	95.80	gold quality
duodenum	UBERON:0002114	95.71	gold quality
skeletal muscle tissue of rectus abdominis	UBERON:0004511	95.64	gold quality
superficial temporal artery	UBERON:0001614	95.61	gold quality
colonic mucosa	UBERON:0000317	95.21	gold quality
adult organism	UBERON:0007023	95.20	gold quality
mucosa of sigmoid colon	UBERON:0004993	95.16	gold quality
body of tongue	UBERON:0011876	94.94	gold quality
triceps brachii	UBERON:0001509	94.90	gold quality
lateral nuclear group of thalamus	UBERON:0002736	94.89	gold quality
skeletal muscle tissue	UBERON:0001134	94.87	gold quality
right uterine tube	UBERON:0001302	94.72	gold quality
metanephros cortex	UBERON:0010533	94.61	gold quality
rectum	UBERON:0001052	94.54	gold quality
deltoid	UBERON:0001476	94.41	gold quality
superior surface of tongue	UBERON:0007371	94.31	gold quality
muscle tissue	UBERON:0002385	94.28	gold quality
tongue	UBERON:0001723	94.11	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	9.79

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

95 targeting COX11, 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-1252-5P	100.00	69.80	2774
HSA-MIR-5692A	100.00	74.40	6850
HSA-MIR-6833-3P	100.00	70.63	3197
HSA-MIR-4768-5P	100.00	69.49	2861
HSA-MIR-3646	100.00	73.56	5283
HSA-MIR-548C-3P	99.99	74.01	7587
HSA-MIR-4482-3P	99.98	72.50	3147
HSA-MIR-5696	99.98	72.36	4487
HSA-MIR-302C-5P	99.97	72.56	3642
HSA-MIR-507	99.97	70.11	1915
HSA-MIR-557	99.96	70.01	1640
HSA-MIR-493-5P	99.96	72.47	2382
HSA-LET-7C-3P	99.95	73.42	2862
HSA-MIR-651-3P	99.94	73.48	5177
HSA-MIR-141-3P	99.94	72.79	2421
HSA-MIR-200A-3P	99.94	72.68	2420
HSA-MIR-3143	99.93	71.96	3104
HSA-MIR-205-3P	99.92	69.92	3165
HSA-MIR-6809-3P	99.91	71.45	3814
HSA-MIR-4753-3P	99.90	71.03	3786
HSA-MIR-6499-3P	99.90	66.38	1212
HSA-MIR-944	99.82	70.85	3042
HSA-MIR-3121-3P	99.82	71.96	3630
HSA-MIR-6844	99.82	70.69	2423
HSA-MIR-8080	99.82	67.52	1342
HSA-MIR-205-5P	99.81	70.05	1557
HSA-MIR-4659A-3P	99.80	72.62	4248
HSA-MIR-4659B-3P	99.80	72.62	4248
HSA-MIR-580-3P	99.67	69.23	1841
HSA-MIR-7-5P	99.67	70.53	1809

Functional genomics

DepMap (CRISPR cell-line fitness): dependent in 27.4% of screened cell lines.

Literature-anchored findings (GeneRIF, showing 6)

• meta-analysis suggested that polymorphism STXBP4/COX11 rs6504950 variant was significantly associated with breast cancer risk; the A allele of rs6504950 decreased the risk of breast cancer (PMID:22863968)
• RANBP2 mutation causing autosomal dominant acute necrotizing encephalopathy attenuates its interaction with COX11. (PMID:34400285)
• Germline allelic expression of genes at 17q22 locus associates with risk of breast cancer. (PMID:35772352)
• Biallelic pathogenic variants in COX11 are associated with an infantile-onset mitochondrial encephalopathy. (PMID:36030551)
• Novel COX11 Mutations Associated with Mitochondrial Disorder: Functional Characterization in Patient Fibroblasts and Saccharomyces cerevisiae. (PMID:38068960)
• LncRNA FGD5-AS1 Alleviates Inflammation in Allergic Rhinitis through the miR-223-3p/COX11 Axis. (PMID:38071964)

Cross-species orthologs

5 orthologs

Organism	Symbol	Gene ID
danio_rerio	cox11	ENSDARG00000061004
mus_musculus	Cox11	ENSMUSG00000020544
rattus_norvegicus	Cox11	ENSRNOG00000052096
drosophila_melanogaster	Cox11	FBGN0051648
caenorhabditis_elegans		WBGENE00010437

Paralogs (1): METTL17 (ENSG00000165792)

Protein

Protein identifiers

Cytochrome c oxidase assembly protein COX11, mitochondrial — Q9Y6N1 (reviewed: Q9Y6N1)

All UniProt accessions (3): B4DI26, Q9Y6N1, I3L4E7

UniProt curated annotations — full annotation on UniProt →

Function. Assembly factor for cytochrome c oxidase (respiratory chain complex IV, CIV). Probably acts as a metallochaperone that delivers copper to the copper B site of COX1.

Subunit / interactions. Homodimer. Interacts with CNNM4/ACDP4. Interacts with RANBP2. Interacts with COX19; to support COX11 dimerization and copper coordination. Interacts with COX2; during cytochrome c oxidase assembly.

Subcellular location. Mitochondrion inner membrane.

Tissue specificity. Ubiquitous.

Disease relevance. Mitochondrial complex IV deficiency, nuclear type 23 (MC4DN23) [MIM:620275] A primary mitochondrial disease, a clinically heterogeneous group of disorders arising from dysfunction of the mitochondrial respiratory chain. MC4DN23 is an autosomal recessive form characterized by infantile-onset encephalopathy. Clinical features include brain atrophy, severe developmental delay, seizures, and dyskinetic movement abnormalities. The disease may be caused by variants affecting the gene represented in this entry.

Similarity. Belongs to the COX11/CtaG family.

Isoforms (2)

UniProt ID	Names	Canonical?
Q9Y6N1-1	1	yes
Q9Y6N1-2	2

RefSeq proteins (4): NP_001156333, NP_001156334, NP_001308447, NP_004366* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR007533	Cyt_c_oxidase_assmbl_CtaG	Family
IPR023471	CtaG/Cox11_dom_sf	Homologous_superfamily

Pfam: PF04442

UniProt features (14 total): sequence variant 3, sequence conflict 2, topological domain 2, binding site 2, transit peptide 1, chain 1, transmembrane region 1, region of interest 1, splice variant 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9Y6N1-F1	74.29	0.43

Functional residue map

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

Ligand- & substrate-binding residues (2): 217; 219

Function

Pathways and Gene Ontology

Reactome pathways

1 pathways

ID	Pathway
R-HSA-9864848	Complex IV assembly

MSigDB gene sets: 243 (showing top): GOBP_RESPIRATORY_CHAIN_COMPLEX_IV_ASSEMBLY, GOBP_MITOCHONDRIAL_RESPIRATORY_CHAIN_COMPLEX_ASSEMBLY, GAUSSMANN_MLL_AF4_FUSION_TARGETS_C_UP, GOBP_ORGANOPHOSPHATE_METABOLIC_PROCESS, GOBP_NUCLEOSIDE_PHOSPHATE_BIOSYNTHETIC_PROCESS, GOBP_ORGANOPHOSPHATE_BIOSYNTHETIC_PROCESS, GOBP_CARBOHYDRATE_DERIVATIVE_METABOLIC_PROCESS, AGGCACT_MIR5153P, GOBP_CYTOCHROME_COMPLEX_ASSEMBLY, PUJANA_CHEK2_PCC_NETWORK, GOBP_NUCLEOBASE_CONTAINING_SMALL_MOLECULE_METABOLIC_PROCESS, MORF_SKP1A, GOBP_ATP_BIOSYNTHETIC_PROCESS, GOBP_CARBOHYDRATE_DERIVATIVE_BIOSYNTHETIC_PROCESS, GOBP_NUCLEOSIDE_TRIPHOSPHATE_METABOLIC_PROCESS

GO Biological Process (2): ATP biosynthetic process (GO:0006754), intracellular monoatomic cation homeostasis (GO:0030003)

GO Molecular Function (3): copper ion binding (GO:0005507), electron transfer activity (GO:0009055), protein binding (GO:0005515)

GO Cellular Component (4): mitochondrion (GO:0005739), mitochondrial inner membrane (GO:0005743), protein-containing complex (GO:0032991), membrane (GO:0016020)

Reactome top-level categories

Rollup of top-1 pathways:

Category	Pathways
Respiratory electron transport	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
purine ribonucleotide biosynthetic process	1
purine ribonucleoside triphosphate biosynthetic process	1
ATP metabolic process	1
intracellular monoatomic ion homeostasis	1
monoatomic cation homeostasis	1
transition metal ion binding	1
molecular_function	1
binding	1
cytoplasm	1
intracellular membrane-bounded organelle	1
organelle inner membrane	1
mitochondrial membrane	1
cellular_component	1
cellular anatomical structure	1

Protein interactions and networks

STRING

1644 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
COX11	COX17	Q14061	935
COX11	SCO1	O75880	916
COX11	SCO2	O43819	862
COX11	COX10	Q12887	854
COX11	COX19	Q49B96	848
COX11	CNNM4	Q6P4Q7	843
COX11	COA6	Q5JTJ3	800
COX11	NEK10	Q6ZWH5	779
COX11	ATOX1	O00244	777
COX11	COX15	Q7KZN9	773
COX11	TOX3	O15405	750
COX11	CHCHD7	Q9BUK0	733
COX11	LSP1	P33241	711
COX11	SURF1	Q15526	709
COX11	SLC4A7	Q9Y6M7	706

IntAct

29 interactions, top by confidence:

A	B	Type	Score
KLK5	DENND11	psi-mi:“MI:0914”(association)	0.640
ERCC3	BCR	psi-mi:“MI:0914”(association)	0.530
COA4	COX11	psi-mi:“MI:0915”(physical association)	0.500
RPL19	COX11	psi-mi:“MI:0915”(physical association)	0.370
Csk	FRYL	psi-mi:“MI:0914”(association)	0.350
Kctd5		psi-mi:“MI:0914”(association)	0.350
Bag2		psi-mi:“MI:0914”(association)	0.350
Smn1	CLNS1A	psi-mi:“MI:0914”(association)	0.350
Cep44	SSR3	psi-mi:“MI:0914”(association)	0.350
HSCB	RBP5	psi-mi:“MI:0914”(association)	0.350
COQ9	NDUFS8	psi-mi:“MI:0914”(association)	0.350
NDUFA4	NUDT19	psi-mi:“MI:0914”(association)	0.350
NDUFA4	NDUFS8	psi-mi:“MI:0914”(association)	0.350
SQSTM1	CHEK1	psi-mi:“MI:0914”(association)	0.350
MAGEA8	METTL15	psi-mi:“MI:0914”(association)	0.350
ERCC3	DNAJA2	psi-mi:“MI:0914”(association)	0.350
KLK15	APAF1	psi-mi:“MI:0914”(association)	0.350
AGK	RAB29	psi-mi:“MI:0914”(association)	0.350
COX11	COX19	psi-mi:“MI:0914”(association)	0.350
SLC25A25	HAX1	psi-mi:“MI:0914”(association)	0.350
AFG2A	ESYT2	psi-mi:“MI:0914”(association)	0.350
AFG2B	MMP24OS	psi-mi:“MI:0914”(association)	0.350
COA3	TMEM223	psi-mi:“MI:0914”(association)	0.350
SCO1	HAX1	psi-mi:“MI:2364”(proximity)	0.270
COX11	MTNR1A	psi-mi:“MI:0915”(physical association)	0.000
COX11	MTNR1B	psi-mi:“MI:0915”(physical association)	0.000

BioGRID (47): COX11 (Affinity Capture-MS), COX11 (Affinity Capture-MS), COX11 (Affinity Capture-MS), COX11 (Affinity Capture-MS), COX11 (Affinity Capture-MS), COX11 (Affinity Capture-MS), COX11 (Affinity Capture-MS), COX11 (Affinity Capture-MS), COX11 (Affinity Capture-MS), COX11 (Affinity Capture-MS), COX11 (Affinity Capture-MS), COX11 (Two-hybrid), COX11 (Two-hybrid), COX11 (Affinity Capture-MS), COX11 (Affinity Capture-MS)

ESM2 similar proteins: A3KMZ6, A5EAA0, A6QLP2, B3NYF7, B3QF26, B4H303, B4IMF6, B4PZ52, B4R3T1, B5DKJ8, C5DKX0, D3ZS74, O35658, O35796, P00257, P00258, P00428, P10606, P12075, P19516, P19536, P22185, P24483, P46656, P54150, P56939, Q07021, Q08C57, Q0V6R0, Q13CY3, Q19293, Q2IR93, Q32PH2, Q3T0B6, Q5R7U6, Q5REG2, Q5S3G4, Q68FL4, Q6P8I6, Q710D6

Diamond homologs: A1BA38, A3KMZ6, A3PGX7, A4WQ59, A4Z2D0, A5EAA0, A5VP42, A6U6U8, A6WWG2, A7IPB8, A9M8Z5, B0CKF6, B3PSB4, B3QF26, B5ZSV4, C0RHH8, C3MHJ5, O21243, P08303, P19516, P56939, P56940, Q04302, Q07HB0, Q11KD0, Q13CY3, Q167V9, Q1GE51, Q1MKI3, Q1QHV9, Q1RJ56, Q20X23, Q2IR93, Q2KBM0, Q3J5F7, Q4UM75, Q54HM6, Q5FGG9, Q5HA73, Q5LNX9

SIGNOR signaling

0 interactions.

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 41 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
mitochondrial respiratory chain complex IV assembly	5	94.6×	4e-07

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	4
Likely pathogenic	0
Uncertain significance	37
Likely benign	4
Benign	1

Top pathogenic / likely-pathogenic (4)

Variant ID	HGVS	Classification
2443970	NM_004375.5(COX11):c.730G>C (p.Ala244Pro)	Pathogenic
2443971	NM_004375.5(COX11):c.35_36delinsG (p.Val12fs)	Pathogenic
3061779	NM_004375.5(COX11):c.766dup (p.Thr256fs)	Pathogenic
3061780	NM_004375.5(COX11):c.739C>A (p.Pro247Thr)	Pathogenic

SpliceAI

984 predictions. Top by Δscore:

Variant	Effect	Δscore
17:54962914:CA:C	acceptor_gain	1.0000
17:54962916:C:CC	acceptor_gain	1.0000
17:54963301:TGTAC:T	donor_loss	1.0000
17:54963302:GTA:G	donor_loss	1.0000
17:54963303:TACC:T	donor_loss	1.0000
17:54963304:A:T	donor_loss	1.0000
17:54963305:CCTGT:C	donor_loss	1.0000
17:54963370:A:AC	donor_gain	1.0000
17:54963371:C:CC	donor_gain	1.0000
17:54963427:ACCAC:A	acceptor_gain	1.0000
17:54963428:CCAC:C	acceptor_gain	1.0000
17:54963428:CCACC:C	acceptor_gain	1.0000
17:54963429:CAC:C	acceptor_gain	1.0000
17:54963429:CACC:C	acceptor_gain	1.0000
17:54963430:AC:A	acceptor_gain	1.0000
17:54963431:CC:C	acceptor_gain	1.0000
17:54963432:C:CA	acceptor_loss	1.0000
17:54963432:C:CC	acceptor_gain	1.0000
17:54963433:T:A	acceptor_loss	1.0000
17:54963435:T:TC	acceptor_gain	1.0000
17:54964693:TTA:T	donor_loss	1.0000
17:54964694:TAC:T	donor_loss	1.0000
17:54964695:A:AC	donor_gain	1.0000
17:54964696:C:CG	donor_gain	1.0000
17:54964696:CA:C	donor_gain	1.0000
17:54964696:CAT:C	donor_gain	1.0000
17:54964696:CATA:C	donor_gain	1.0000
17:54964696:CATAT:C	donor_gain	1.0000
17:54964848:GTAGT:G	acceptor_gain	1.0000
17:54964849:TAGT:T	acceptor_gain	1.0000

AlphaMissense

1793 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
17:54964729:A:G	W164R	0.999
17:54964729:A:T	W164R	0.999
17:54962910:G:C	F218L	0.998
17:54962910:G:T	F218L	0.998
17:54962912:A:G	F218L	0.998
17:54963312:T:A	K214N	0.997
17:54963312:T:G	K214N	0.997
17:54963387:A:C	N189K	0.997
17:54963387:A:T	N189K	0.997
17:54963402:A:C	F184L	0.997
17:54963402:A:T	F184L	0.997
17:54963404:A:G	F184L	0.997
17:54963364:C:T	G197E	0.996
17:54964722:A:G	F166S	0.996
17:54964727:C:A	W164C	0.996
17:54964727:C:G	W164C	0.996
17:54962792:A:G	S258P	0.995
17:54962848:A:T	I239N	0.995
17:54963319:A:G	F212S	0.995
17:54964758:A:G	F154S	0.995
17:54962778:A:C	F262L	0.994
17:54962778:A:T	F262L	0.994
17:54962780:A:G	F262L	0.994
17:54962905:A:C	F220C	0.994
17:54962908:C:T	C219Y	0.994
17:54962911:A:C	F218C	0.994
17:54962915:A:G	C217R	0.994
17:54963389:T:C	N189D	0.994
17:54963394:G:T	A187D	0.994
17:54963421:C:A	G178V	0.994

dbSNP variants (sampled 300 via entrez): RS1000861730 (17:54959605 C>T), RS1000937993 (17:54967939 C>G), RS1001055181 (17:54954032 A>G), RS1001163618 (17:54969487 T>C), RS1001564613 (17:54959765 G>T), RS1001673036 (17:54967542 G>A,C), RS1001766357 (17:54967320 T>C), RS1001820037 (17:54966990 C>T), RS1001943531 (17:54959635 G>T), RS1002018453 (17:54951801 A>AG), RS1002157606 (17:54968194 C>A,G,T), RS1002262502 (17:54960344 A>C), RS1002360554 (17:54963659 T>C), RS1002369161 (17:54954771 T>C), RS1002442703 (17:54954582 C>T)

Disease associations

OMIM: gene MIM:603648 | disease phenotypes: MIM:620275

GenCC curated gene-disease

Disease	Classification	Inheritance
mitochondrial complex IV deficiency, nuclear type 23	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 (1): mitochondrial complex IV deficiency, nuclear type 23 (MONDO:0859520)

Orphanet (0):

HPO phenotypes

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

HPO	Term
HP:0000007	Autosomal recessive inheritance
HP:0000023	Inguinal hernia
HP:0000252	Microcephaly
HP:0000407	Sensorineural hearing impairment
HP:0000505	Visual impairment
HP:0001252	Hypotonia
HP:0001348	Brisk reflexes
HP:0001511	Intrauterine growth retardation
HP:0001522	Death in infancy
HP:0001537	Umbilical hernia
HP:0001943	Hypoglycemia
HP:0002020	Gastroesophageal reflux
HP:0002063	Rigidity
HP:0002151	Increased circulating lactate concentration
HP:0002490	Increased CSF lactate
HP:0002791	Hypoventilation
HP:0003270	Abdominal distention
HP:0003593	Infantile onset
HP:0003623	Neonatal onset
HP:0003798	Nemaline bodies
HP:0007359	Focal-onset seizure
HP:0010548	Percussion myotonia
HP:0011968	Feeding difficulties
HP:0012444	Brain atrophy
HP:0012707	Elevated brain lactate level by MRS
HP:0020221	Clonic seizure
HP:0025116	Fetal distress
HP:0034391	Elbow contracture
HP:0034671	Knee contracture
HP:0100660	Dyskinesia

GWAS associations

4 associations (top):

Study	Trait	p-value
GCST001937_43	Breast cancer	2.000000e-13
GCST003542_23	Night sleep phenotypes	4.000000e-06
GCST004948_2	Breast cancer	1.000000e-08
GCST009391_961	Metabolite levels	7.000000e-06

EFO canonical traits (1, from GWAS)

EFO ID	Trait name
EFO:0010444	triacylglycerol 60:12 measurement

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Acetaminophen	decreases expression, increases expression	3
sodium arsenite	affects expression, decreases expression	2
cobaltous chloride	decreases expression	2
entinostat	decreases expression, affects cotreatment	2
Air Pollutants	decreases expression, affects expression, increases abundance	2
Tetrachlorodibenzodioxin	affects expression, decreases expression	2
Cyclosporine	decreases expression	2
triphenyl phosphate	affects expression	1
bisphenol A	increases expression, affects cotreatment	1
trichostatin A	decreases expression	1
tris(1,3-dichloro-2-propyl)phosphate	decreases expression	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, decreases expression	1
dorsomorphin	affects cotreatment, decreases expression	1
NSC 689534	affects binding, decreases expression	1
(+)-JQ1 compound	decreases expression	1
Sunitinib	decreases expression	1
Arsenic Trioxide	increases expression	1
Air Pollutants, Occupational	affects expression	1
Atrazine	decreases expression	1
Cadmium	decreases expression	1
Copper	affects binding, decreases expression	1
Dexamethasone	increases expression, affects cotreatment	1
Folic Acid	decreases expression	1
Formaldehyde	decreases expression	1
Gold	decreases expression	1
Indomethacin	affects cotreatment, increases expression	1
Methyl Methanesulfonate	increases expression	1
Ozone	increases abundance, affects expression	1
Quercetin	decreases expression	1
Thiram	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_SJ65	HAP1 COX11 (-)	Cancer cell line	Male

Clinical trials (associated diseases)

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