COX6B1

Summary

COX6B1 (cytochrome c oxidase subunit 6B1, HGNC:2280) is a protein-coding gene on chromosome 19q13.12, encoding Cytochrome c oxidase subunit 6B1 (P14854). Component of the cytochrome c oxidase, the last enzyme in the mitochondrial electron transport chain which drives oxidative phosphorylation. It is a selective cancer dependency (DepMap: 28.5% of cell lines).

Cytochrome c oxidase (COX), the terminal enzyme of the mitochondrial respiratory chain, catalyzes the electron transfer from reduced cytochrome c to oxygen. It 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 be involved in the regulation and assembly of the complex. This nuclear gene encodes subunit VIb. Mutations in this gene are associated with severe infantile encephalomyopathy. Three pseudogenes COX6BP-1, COX6BP-2 and COX6BP-3 have been found on chromosomes 7, 17 and 22q13.1-13.2, respectively.

Source: NCBI Gene 1340 — RefSeq curated summary.

At a glance

• Gene–disease (curated): mitochondrial disease (Definitive, ClinGen) — +2 more curated relationships
• GWAS associations: 1
• Clinical variants (ClinVar): 70 total — 2 likely-pathogenic
• Phenotypes (HPO): 63
• Druggable target: yes
• Cancer dependency (DepMap): dependent in 28.5% of screened cell lines
• Dosage sensitivity (ClinGen): haploinsufficiency autosomal recessive, triplosensitivity no evidence
• MANE Select transcript: NM_001863

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:2280
Approved symbol	COX6B1
Name	cytochrome c oxidase subunit 6B1
Location	19q13.12
Locus type	gene with protein product
Status	Approved
Aliases	COXG
Ensembl gene	ENSG00000126267
Ensembl biotype	protein_coding
OMIM	124089
Entrez	1340

Gene structure

Transcript identifiers

Ensembl transcripts: 14 — 14 protein_coding

ENST00000392201, ENST00000590618, ENST00000592141, ENST00000649813, ENST00000652250, ENST00000858001, ENST00000858002, ENST00000938367, ENST00000938368, ENST00000938369, ENST00000938370, ENST00000938371, ENST00000938372, ENST00000938373

RefSeq mRNA: 1 — MANE Select: NM_001863 NM_001863

CCDS: CCDS12469

Canonical transcript exons

ENST00000649813 — 4 exons

Exon	Start	End
ENSE00000862804	35654571	35654671
ENSE00002899877	35658594	35658782
ENSE00003125961	35651233	35651349
ENSE00003832893	35648323	35648403

Expression profiles

Bgee: expression breadth ubiquitous, 295 present calls, max score 99.86.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 305.6439 / max 2199.7950, expressed in 1828 samples.

FANTOM5 promoters (2 alternative TSS)

Promoter ID	TPM avg	Samples expressed
175361	303.3771	1828
175362	2.2668	778

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
apex of heart	UBERON:0002098	99.86	gold quality
cardiac ventricle	UBERON:0002082	99.71	gold quality
heart left ventricle	UBERON:0002084	99.71	gold quality
heart right ventricle	UBERON:0002080	99.68	gold quality
mucosa of transverse colon	UBERON:0004991	99.67	gold quality
right atrium auricular region	UBERON:0006631	99.67	gold quality
hindlimb stylopod muscle	UBERON:0004252	99.65	gold quality
cardiac atrium	UBERON:0002081	99.62	gold quality
heart	UBERON:0000948	99.61	gold quality
rectum	UBERON:0001052	99.60	gold quality
gastrocnemius	UBERON:0001388	99.49	gold quality
triceps brachii	UBERON:0001509	99.49	gold quality
metanephros cortex	UBERON:0010533	99.47	gold quality
Brodmann (1909) area 9	UBERON:0013540	99.46	gold quality
right frontal lobe	UBERON:0002810	99.45	gold quality
cingulate cortex	UBERON:0003027	99.44	gold quality
transverse colon	UBERON:0001157	99.43	gold quality
anterior cingulate cortex	UBERON:0009835	99.43	gold quality
islet of Langerhans	UBERON:0000006	99.42	gold quality
biceps brachii	UBERON:0001507	99.42	gold quality
prefrontal cortex	UBERON:0000451	99.41	gold quality
muscle of leg	UBERON:0001383	99.40	gold quality
colonic epithelium	UBERON:0000397	99.39	gold quality
body of stomach	UBERON:0001161	99.39	gold quality
lower esophagus mucosa	UBERON:0035834	99.39	gold quality
muscle organ	UBERON:0001630	99.38	gold quality
granulocyte	CL:0000094	99.37	gold quality
vastus lateralis	UBERON:0001379	99.37	gold quality
nucleus accumbens	UBERON:0001882	99.37	gold quality
skeletal muscle tissue of biceps brachii	UBERON:0004502	99.37	gold quality

Single-cell (SCXA)

Detected in 9 experiment(s), a significant marker in 6.

Experiment	Marker?	Max mean expression
E-MTAB-8410	yes	51.44
E-HCAD-10	yes	14.75
E-MTAB-10042	yes	12.61
E-MTAB-7249	yes	10.99
E-MTAB-7316	yes	9.18
E-MTAB-7303	no	2471.75
E-MTAB-4850	no	407.98
E-CURD-120	no	7.26
E-ANND-3	no	0.00

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

19 targeting COX6B1, 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-433-3P	99.98	69.37	1203
HSA-MIR-1343-3P	99.89	66.78	1815
HSA-MIR-6783-3P	99.89	67.92	2059
HSA-MIR-765	99.84	68.24	2442
HSA-MIR-5004-5P	99.68	66.63	1294
HSA-MIR-4524A-5P	99.57	71.73	1193
HSA-MIR-4524B-5P	99.57	71.68	1195
HSA-MIR-2392	99.43	67.50	708
HSA-MIR-6852-5P	99.17	66.69	2073
HSA-MIR-3125	99.14	68.49	2269
HSA-MIR-939-3P	98.97	65.07	2347
HSA-MIR-6770-5P	98.97	66.76	1853
HSA-MIR-374B-3P	98.63	68.24	1360
HSA-MIR-5681A	97.99	67.17	1658
HSA-MIR-6742-3P	97.95	64.50	1490
HSA-MIR-6847-5P	97.93	66.74	1808
HSA-MIR-7154-3P	97.65	65.02	985
HSA-MIR-3192-5P	96.98	65.76	1926
HSA-MIR-4661-3P	96.81	66.02	342

Functional genomics

ClinGen dosage: haploinsufficiency 30 (autosomal recessive), triplosensitivity 0 (no evidence). ClinGen Gene Dosage Map DepMap (CRISPR cell-line fitness): dependent in 28.5% of screened cell lines.

Literature-anchored findings (GeneRIF, showing 3)

• two siblings with severe infantile encephalomyopathy revealed the presence of a missense mutation in the COX6B1 gene (PMID:18499082)
• Data found that subunits Cox6a, Cox6b and Cox7a assembled into pre-existing complex IV, while Cox4-1 and Cox6c subunits assembled into subcomplexes that may represent rate-limiting intermediates. (PMID:19843159)
• p2 peptide from HIV-1 enhances HIV-1 acute infection by increasing intracellular ATP production via the activation of mitochondrial cytochrome c oxidase (MT-CO) involved in the respiratory chain (PMID:26577226)

Cross-species orthologs

3 orthologs

Organism	Symbol	Gene ID
mus_musculus	Cox6b1	ENSMUSG00000036751
rattus_norvegicus	Cox6b1	ENSRNOG00000024309
caenorhabditis_elegans		WBGENE00022170

Paralogs (1): COX6B2 (ENSG00000160471)

Protein

Protein identifiers

Cytochrome c oxidase subunit 6B1 — P14854 (reviewed: P14854)

Alternative names: Cytochrome c oxidase subunit VIb isoform 1

All UniProt accessions (3): P14854, A0A494C160, K7EQD3

UniProt curated annotations — full annotation on UniProt →

Function. Component of the cytochrome c oxidase, the last enzyme in the mitochondrial electron transport chain which drives oxidative phosphorylation. The respiratory chain contains 3 multisubunit complexes succinate dehydrogenase (complex II, CII), ubiquinol-cytochrome c oxidoreductase (cytochrome b-c1 complex, complex III, CIII) and cytochrome c oxidase (complex IV, CIV), that cooperate to transfer electrons derived from NADH and succinate to molecular oxygen, creating an electrochemical gradient over the inner membrane that drives transmembrane transport and the ATP synthase. Cytochrome c oxidase is the component of the respiratory chain that catalyzes the reduction of oxygen to water. Electrons originating from reduced cytochrome c in the intermembrane space (IMS) are transferred via the dinuclear copper A center (CU(A)) of subunit 2 and heme A of subunit 1 to the active site in subunit 1, a binuclear center (BNC) formed by heme A3 and copper B (CU(B)). The BNC reduces molecular oxygen to 2 water molecules using 4 electrons from cytochrome c in the IMS and 4 protons from the mitochondrial matrix.

Subunit / interactions. Component of the cytochrome c oxidase (complex IV, CIV), a multisubunit enzyme composed of 14 subunits. The complex is composed of a catalytic core of 3 subunits MT-CO1, MT-CO2 and MT-CO3, encoded in the mitochondrial DNA, and 11 supernumerary subunits COX4I1 (or COX4I2), COX5A, COX5B, COX6A1 (or COX6A2), COX6B1 (or COX6B2), COX6C, COX7A2 (or COX7A1), COX7B, COX7C, COX8A and COXFA4, which are encoded in the nuclear genome. The complex exists as a monomer or a dimer and forms supercomplexes (SCs) in the inner mitochondrial membrane with NADH-ubiquinone oxidoreductase (complex I, CI) and ubiquinol-cytochrome c oxidoreductase (cytochrome b-c1 complex, complex III, CIII), resulting in different assemblies (supercomplex SCI(1)III(2)IV(1) and megacomplex MCI(2)III(2)IV(2)).

Subcellular location. Mitochondrion inner membrane.

Disease relevance. Mitochondrial complex IV deficiency, nuclear type 7 (MC4DN7) [MIM:619051] An autosomal recessive mitochondrial disorder characterized by encephalomyopathy resulting in variable clinical manifestations. Features include muscle weakness, gait disturbances, neurodegeneration, cognitive decline, metabolic acidosis, feeding difficulties, poor overall growth, cortical visual impairment, and hypertrophic cardiomyopathy. Serum lactate levels are increased. Patient tissues show decreased levels and activity of mitochondrial respiratory complex IV. The disease is caused by variants affecting the gene represented in this entry.

Pathway. Energy metabolism; oxidative phosphorylation.

Similarity. Belongs to the cytochrome c oxidase subunit 6B family.

RefSeq proteins (1): NP_001854* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR003213	Cyt_c_oxidase_su6B	Family
IPR036549	CX6/COA6-like_sf	Homologous_superfamily
IPR048280	COX6B-like	Family

Pfam: PF02297

UniProt features (10 total): short sequence motif 2, disulfide bond 2, sequence variant 2, initiator methionine 1, chain 1, domain 1, modified residue 1

Structure

Experimental structures (PDB)

3 structures.

PDB	Method	Resolution (Å)
9I6F	ELECTRON MICROSCOPY	2.95
9I7U	ELECTRON MICROSCOPY	3.15
5Z62	ELECTRON MICROSCOPY	3.6

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-P14854-F1	95.15	0.89

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): 2

Disulfide bonds (2): 30–65, 40–54

Function

Pathways and Gene Ontology

Reactome pathways

4 pathways

ID	Pathway
R-HSA-5628897	TP53 Regulates Metabolic Genes
R-HSA-611105	Respiratory electron transport
R-HSA-9707564	Cytoprotection by HMOX1
R-HSA-9864848	Complex IV assembly

MSigDB gene sets: 258 (showing top): MODULE_93, MODULE_151, ENK_UV_RESPONSE_KERATINOCYTE_UP, MORF_UBE2I, MORF_HDAC1, HSIAO_HOUSEKEEPING_GENES, GOBP_MONOATOMIC_CATION_TRANSPORT, GOBP_GENERATION_OF_PRECURSOR_METABOLITES_AND_ENERGY, MORF_SKP1A, GOBP_NEURAL_NUCLEUS_DEVELOPMENT, GGAANCGGAANY_UNKNOWN, GOBP_OXIDATIVE_PHOSPHORYLATION, MORF_CTBP1, GOBP_SUBSTANTIA_NIGRA_DEVELOPMENT, GOBP_MIDBRAIN_DEVELOPMENT

GO Biological Process (5): mitochondrial electron transport, cytochrome c to oxygen (GO:0006123), substantia nigra development (GO:0021762), cellular respiration (GO:0045333), oxidative phosphorylation (GO:0006119), proton transmembrane transport (GO:1902600)

GO Molecular Function (1): cytochrome-c oxidase activity (GO:0004129)

GO Cellular Component (6): mitochondrion (GO:0005739), mitochondrial inner membrane (GO:0005743), mitochondrial membrane (GO:0031966), respiratory chain complex IV (GO:0045277), sperm principal piece (GO:0097228), membrane (GO:0016020)

Reactome top-level categories

Rollup of top-4 pathways:

Category	Pathways
Transcriptional Regulation by TP53	1
Aerobic respiration and respiratory electron transport	1
Cellular response to chemical stress	1
Respiratory electron transport	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	2
aerobic electron transport chain	1
mitochondrial ATP synthesis coupled electron transport	1
midbrain development	1
neural nucleus development	1
energy derivation by oxidation of organic compounds	1
aerobic respiration	1
proton motive force-driven ATP synthesis	1
monoatomic cation transmembrane transport	1
electron transfer activity	1
proton transmembrane transporter activity	1
oxidoreduction-driven active transmembrane transporter activity	1
oxidoreductase activity, acting on a heme group of donors	1
active monoatomic ion transmembrane transporter activity	1
cytoplasm	1
intracellular membrane-bounded organelle	1
organelle inner membrane	1
mitochondrial membrane	1
mitochondrion	1
mitochondrial envelope	1
organelle membrane	1
cytochrome complex	1
respiratory chain complex	1
transmembrane transporter complex	1
oxidoreductase complex	1
sperm flagellum	1

Protein interactions and networks

STRING

1994 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
COX6B1	COX6A1	P12074	985
COX6B1	COX5A	P20674	970
COX6B1	COX5B	P10606	968
COX6B1	COX6A2	Q02221	957
COX6B1	COX7A1	P24310	952
COX6B1	COX6C	P09669	913
COX6B1	COXFA4	O00483	911
COX6B1	COX7C	P15954	908
COX6B1	COX10	Q12887	894
COX6B1	MT-CO2	P00403	891
COX6B1	SCO1	O75880	870
COX6B1	MT-CO3	P00414	870
COX6B1	COX4I1	P13073	856
COX6B1	COX15	Q7KZN9	854
COX6B1	SURF1	Q15526	808

IntAct

97 interactions, top by confidence:

A	B	Type	Score
UQCRQ	COX7A2L	psi-mi:“MI:0914”(association)	0.640
COX7A2	COX6B1	psi-mi:“MI:0914”(association)	0.640
UQCRB	COX7A2L	psi-mi:“MI:0914”(association)	0.640
UQCRH	COX7A2L	psi-mi:“MI:0914”(association)	0.640
MT-CO2	COX6C	psi-mi:“MI:0915”(physical association)	0.560
TIMMDC1	NDUFS8	psi-mi:“MI:0914”(association)	0.530
COX5B	COX7A2L	psi-mi:“MI:0914”(association)	0.530
COX7A2	COX4I1	psi-mi:“MI:0914”(association)	0.480
env	FLOT1	psi-mi:“MI:0914”(association)	0.460
AIFM1	HAX1	psi-mi:“MI:0914”(association)	0.420
AIFM1	HAX1	psi-mi:“MI:2364”(proximity)	0.420
Rab5c		psi-mi:“MI:0914”(association)	0.350
Cdc6		psi-mi:“MI:0914”(association)	0.350
Ankfy1	ANXA2	psi-mi:“MI:0914”(association)	0.350
RAB5C	GCA	psi-mi:“MI:0914”(association)	0.350
XRCC5	BACC1	psi-mi:“MI:0914”(association)	0.350
Aifm1	HMGB1	psi-mi:“MI:0914”(association)	0.350
TMEM132A	WWP2	psi-mi:“MI:0914”(association)	0.350
Sidt2	PRSS1	psi-mi:“MI:0914”(association)	0.350
Zbtb7a	C4B	psi-mi:“MI:0914”(association)	0.350
VAPA		psi-mi:“MI:0914”(association)	0.350
YIPF5	SSR3	psi-mi:“MI:0914”(association)	0.350
POLR2G	POLR2B	psi-mi:“MI:0914”(association)	0.350
VPS26A	LCMT2	psi-mi:“MI:0914”(association)	0.350
YEATS4	ING3	psi-mi:“MI:0914”(association)	0.350
KSR1	FBLL1	psi-mi:“MI:0914”(association)	0.350
KSR1	FAM168B	psi-mi:“MI:0914”(association)	0.350
KSR1		psi-mi:“MI:0914”(association)	0.350

BioGRID (141): COX6B1 (Affinity Capture-MS), COX6B1 (Affinity Capture-MS), COX5A (Co-fractionation), COX6B1 (Co-fractionation), COX6B1 (Co-fractionation), COX6B1 (Co-fractionation), COX6B1 (Affinity Capture-MS), COX6B1 (Affinity Capture-MS), COX6B1 (Affinity Capture-MS), COX6B1 (Affinity Capture-MS), COX6B1 (Affinity Capture-MS), COX6B1 (Affinity Capture-MS), COX6B1 (Affinity Capture-MS), COX6B1 (Affinity Capture-MS), COX6B1 (Affinity Capture-MS)

ESM2 similar proteins: A0A096LP55, A0A1D8PJT8, A1L243, A1L3N6, A6H767, A9ULB4, P00126, P00429, P05067, P07919, P08592, P12023, P13805, P14854, P23025, P27088, P28656, P36233, P36378, P48504, P55209, P56277, P79307, P99028, Q0P451, Q0VBY0, Q15545, Q28CA1, Q28EB4, Q2HJG8, Q4R374, Q4R5A5, Q4U0Y4, Q53CG4, Q5IS80, Q5M9I5, Q5R4D4, Q5R7L9, Q5RCT0, Q64267

Diamond homologs: O94581, P00429, P14854, P56391, Q01519, Q1K8U2, Q4R374, Q53CG4, Q54P95, Q5RCT0, Q6YFP9, Q6YFQ1, Q6YFQ2, Q7YRK6, Q80ZN9, Q945L0, Q9LPJ2, Q9S7L9, Q9SUD3

SIGNOR signaling

1 interactions.

A	Effect	B	Mechanism
COX6B1	“form complex”	“Cytochrome c oxidase-Mitochondrial respiratory chain complex IV”	binding

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 116 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 IV assembly	12	34.3×	2e-13
Respiratory electron transport	20	23.8×	6e-20
Cytoprotection by HMOX1	10	23.0×	2e-09
TP53 Regulates Metabolic Genes	11	17.8×	3e-09

GO biological processes:

GO term	Partners	Fold	FDR
mitochondrial electron transport, cytochrome c to oxygen	11	86.0×	8e-17
cellular respiration	12	52.9×	1e-15
generation of precursor metabolites and energy	6	21.1×	1e-04
aerobic respiration	6	15.2×	4e-04

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	2
Uncertain significance	23
Likely benign	25
Benign	6

Top pathogenic / likely-pathogenic (2)

Variant ID	HGVS	Classification
16875	NM_001863.5(COX6B1):c.59G>A (p.Arg20His)	Likely pathogenic
217745	NM_001863.5(COX6B1):c.58C>T (p.Arg20Cys)	Likely pathogenic

SpliceAI

419 predictions. Top by Δscore:

Variant	Effect	Δscore
19:35651228:TCCAG:T	acceptor_gain	1.0000
19:35651229:CCA:C	acceptor_loss	1.0000
19:35651229:CCAG:C	acceptor_gain	1.0000
19:35651230:CA:C	acceptor_loss	1.0000
19:35651230:CAG:C	acceptor_gain	1.0000
19:35651231:A:AG	acceptor_gain	1.0000
19:35651231:A:T	acceptor_loss	1.0000
19:35651231:AG:A	acceptor_gain	1.0000
19:35651231:AGGAT:A	acceptor_gain	1.0000
19:35651232:G:A	acceptor_gain	1.0000
19:35651232:G:GG	acceptor_gain	1.0000
19:35651232:GGA:G	acceptor_gain	1.0000
19:35651232:GGAT:G	acceptor_gain	1.0000
19:35651232:GGATT:G	acceptor_gain	1.0000
19:35651345:CCTGG:C	donor_gain	1.0000
19:35651346:CTGG:C	donor_gain	1.0000
19:35651346:CTGGG:C	donor_loss	1.0000
19:35651347:TGG:T	donor_gain	1.0000
19:35651347:TGGG:T	donor_loss	1.0000
19:35651348:GG:G	donor_gain	1.0000
19:35651348:GGG:G	donor_gain	1.0000
19:35651349:GG:G	donor_gain	1.0000
19:35651350:G:C	donor_loss	1.0000
19:35651350:G:GG	donor_gain	1.0000
19:35654566:CACA:C	acceptor_loss	1.0000
19:35654568:CAG:C	acceptor_loss	1.0000
19:35654569:A:AG	acceptor_gain	1.0000
19:35654569:AGACT:A	acceptor_loss	1.0000
19:35654570:G:A	acceptor_loss	1.0000
19:35654570:G:GA	acceptor_gain	1.0000

AlphaMissense

0 scored. Top likely-pathogenic:

dbSNP variants (sampled 300 via entrez): RS1000239950 (19:35651677 T>G), RS1000347861 (19:35658016 T>C), RS1000396605 (19:35657716 G>A), RS1000586073 (19:35646755 T>G), RS1000591905 (19:35652203 G>C,T), RS1000638540 (19:35646336 C>T), RS1001243064 (19:35650072 C>T), RS1001403092 (19:35656420 T>C), RS1001749552 (19:35656717 G>A), RS1001844352 (19:35657048 T>C), RS1002062403 (19:35652948 G>A), RS1002238811 (19:35648331 C>T), RS1002458396 (19:35648141 C>T), RS1002626564 (19:35649731 C>G,T), RS1002741369 (19:35650004 T>C,G)

Disease associations

OMIM: gene MIM:124089 | disease phenotypes: MIM:619051, MIM:220110

GenCC curated gene-disease

Disease	Classification	Inheritance
mitochondrial complex IV deficiency, nuclear type 7	Definitive	Autosomal recessive
cytochrome-c oxidase deficiency disease	Supportive	Autosomal recessive

ClinGen Gene-Disease Validity (1)

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

Disease	Classification	Inheritance
mitochondrial disease	Definitive	AR

Mondo (3): mitochondrial complex IV deficiency, nuclear type 7 (MONDO:0033637), mitochondrial complex IV deficiency, nuclear type 1 (MONDO:0700250), (MONDO:0009068)

Orphanet (0):

HPO phenotypes

63 total (30 of 63 shown, HPO-id order):

HPO	Term
HP:0000007	Autosomal recessive inheritance
HP:0000093	Proteinuria
HP:0000124	Renal tubular dysfunction
HP:0000218	High palate
HP:0000407	Sensorineural hearing impairment
HP:0000508	Ptosis
HP:0000572	Visual loss
HP:0000580	Pigmentary retinopathy
HP:0000597	Ophthalmoparesis
HP:0000648	Optic atrophy
HP:0001249	Intellectual disability
HP:0001250	Seizure
HP:0001251	Ataxia
HP:0001252	Hypotonia
HP:0001263	Global developmental delay
HP:0001268	Mental deterioration
HP:0001270	Motor delay
HP:0001290	Generalized hypotonia
HP:0001324	Muscle weakness
HP:0001348	Brisk reflexes
HP:0001410	Decreased liver function
HP:0001427	Mitochondrial inheritance
HP:0001508	Failure to thrive
HP:0001511	Intrauterine growth retardation
HP:0001639	Hypertrophic cardiomyopathy
HP:0001640	Cardiomegaly
HP:0001714	Ventricular hypertrophy
HP:0001903	Anemia
HP:0001942	Metabolic acidosis
HP:0001987	Hyperammonemia

GWAS associations

1 associations (top):

Study	Trait	p-value
GCST010703_277	Brain morphology (MOSTest)	2.000000e-15

EFO canonical traits (1, from GWAS)

EFO ID	Trait name
EFO:0004346	neuroimaging measurement

Drugs & pharmacology

Drug and pharmacology data

Is drug target: yes

ChEMBL targets (1): CHEMBL6066383 (SINGLE PROTEIN)

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
bisphenol A	affects expression, decreases expression, increases expression	3
sodium arsenite	increases abundance, increases expression	2
Acetaminophen	decreases expression, increases expression	2
Arsenic	affects methylation, increases abundance, increases expression	2
Valproic Acid	increases expression, affects expression, affects cotreatment	2
beta-N-methylamino-L-alanine	increases expression, affects cotreatment	1
triphenyl phosphate	affects expression	1
2,4-diaminobutyric acid	affects cotreatment, increases expression	1
arsenite	affects binding, increases reaction	1
methylparaben	decreases expression	1
perfluorooctanoic acid	decreases expression	1
manganese chloride	increases abundance, increases expression	1
azoxystrobin	increases expression	1
CGP 52608	affects binding, increases reaction	1
chloropicrin	affects expression	1
corosolic acid	decreases expression	1
K 7174	decreases expression	1
pyrimidifen	increases expression	1
5-hydroxythalidomide	affects binding	1
picoxystrobin	increases expression	1
MT19c compound	decreases expression	1
Air Pollutants	decreases expression, increases abundance	1
Benzo(a)pyrene	decreases expression	1
Cisplatin	affects cotreatment, increases expression	1
Doxorubicin	increases expression	1
Environmental Pollutants	affects expression	1
Hydralazine	affects cotreatment, increases expression	1
Isoniazid	decreases expression	1
Ivermectin	decreases expression	1
Manganese	increases abundance, increases expression	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
CHEMBL5651174	Binding	Binding affinity to human COX6B1 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

Clinical trials (associated diseases)

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