COX7B2

Summary

COX7B2 (cytochrome c oxidase subunit 7B2, HGNC:24381) is a protein-coding gene on chromosome 4p12, encoding Cytochrome c oxidase subunit 7B2, mitochondrial (Q8TF08). Component of the cytochrome c oxidase, the last enzyme in the mitochondrial electron transport chain which drives oxidative phosphorylation.

Predicted to be involved in mitochondrial electron transport, cytochrome c to oxygen. Predicted to act upstream of or within spermatogenesis. Located in mitochondrion.

Source: NCBI Gene 170712 — RefSeq curated summary.

At a glance

• GWAS associations: 3
• Clinical variants (ClinVar): 13 total
• MANE Select transcript: NM_130902

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:24381
Approved symbol	COX7B2
Name	cytochrome c oxidase subunit 7B2
Location	4p12
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000170516
Ensembl biotype	protein_coding
OMIM	609811
Entrez	170712

Gene structure

Transcript identifiers

Ensembl transcripts: 4 — 4 protein_coding

ENST00000355591, ENST00000396533, ENST00000505102, ENST00000543208

RefSeq mRNA: 1 — MANE Select: NM_130902 NM_130902

CCDS: CCDS3472

Canonical transcript exons

ENST00000355591 — 3 exons

Exon	Start	End
ENSE00001136419	46734827	46735241
ENSE00001256560	46844960	46845014
ENSE00001489252	46909160	46909245

Expression profiles

Bgee: expression breadth broad, 66 present calls, max score 96.73.

FANTOM5 (CAGE): breadth tissue_specific, TPM avg 0.1479 / max 28.4483, expressed in 27 samples.

FANTOM5 promoters (3 alternative TSS)

Promoter ID	TPM avg	Samples expressed
52023	0.1298	26
52022	0.0096	4
52021	0.0084	4

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
right testis	UBERON:0004534	96.73	gold quality
left testis	UBERON:0004533	96.68	gold quality
sperm	CL:0000019	94.28	gold quality
testis	UBERON:0000473	93.98	gold quality
adult organism	UBERON:0007023	92.90	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	91.24	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	90.45	gold quality
tibialis anterior	UBERON:0001385	65.31	silver quality
ileal mucosa	UBERON:0000331	59.62	silver quality
pancreatic ductal cell	CL:0002079	58.13	silver quality
deltoid	UBERON:0001476	55.43	silver quality
epithelial cell of pancreas	CL:0000083	54.42	gold quality
cardiac muscle of right atrium	UBERON:0003379	54.34	gold quality
left ventricle myocardium	UBERON:0006566	54.23	gold quality
kidney epithelium	UBERON:0004819	53.93	gold quality
upper arm skin	UBERON:0004263	53.52	gold quality
myocardium	UBERON:0002349	50.25	gold quality
quadriceps femoris	UBERON:0001377	47.39	gold quality
nasal cavity epithelium	UBERON:0005384	47.03	gold quality
placenta	UBERON:0001987	45.96	gold quality
vastus lateralis	UBERON:0001379	45.40	gold quality
lower lobe of lung	UBERON:0008949	45.27	silver quality
ganglionic eminence	UBERON:0004023	45.04	gold quality
upper leg skin	UBERON:0004262	43.91	silver quality
layer of synovial tissue	UBERON:0007616	43.55	gold quality
skeletal muscle tissue of rectus abdominis	UBERON:0004511	43.37	gold quality
secondary oocyte	CL:0000655	42.57	gold quality
ventricular zone	UBERON:0003053	41.53	gold quality
superficial temporal artery	UBERON:0001614	41.33	gold quality
palpebral conjunctiva	UBERON:0001812	41.10	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	2.94

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

4 targeting COX7B2, 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-520F-3P	99.82	71.32	1216
HSA-MIR-4743-3P	99.62	68.12	2095
HSA-MIR-6792-5P	98.39	68.16	1330
HSA-MIR-215-3P	97.02	68.01	1209

Literature-anchored findings (GeneRIF, showing 1)

• codon 26 of COX7B2 gene might be evolutionarily conserved and the rare variation His26Gln may be associated with a high risk of nasopharyngeal carcinoma (PMID:15623157)

Cross-species orthologs

2 orthologs

Organism	Symbol	Gene ID
mus_musculus	Cox7b2	ENSMUSG00000049387
rattus_norvegicus	Cox7b2	ENSRNOG00000057953

Paralogs (1): COX7B (ENSG00000131174)

Protein

Protein identifiers

Cytochrome c oxidase subunit 7B2, mitochondrial — Q8TF08 (reviewed: Q8TF08)

Alternative names: Cytochrome c oxidase polypeptide VIIb2

All UniProt accessions (3): Q8TF08, A0A0C4DGG2, D6R9N1

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 COX4I, COX5A, COX5B, COX6A, COX6B, COX6C, COX7A, COX7B, COX7C, COX8 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.

Pathway. Energy metabolism; oxidative phosphorylation.

Similarity. Belongs to the cytochrome c oxidase VIIb family.

RefSeq proteins (1): NP_570972* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR008433	Cyt_c_oxidase_suVIIB	Family
IPR023272	Cyt_c_oxidase_suVIIB_dom_sf	Homologous_superfamily

Pfam: PF05392

UniProt features (6 total): topological domain 2, transit peptide 1, chain 1, transmembrane region 1, sequence variant 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q8TF08-F1	89.69	0.58

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 51 (showing top): GOBP_MALE_GAMETE_GENERATION, chr4p12, GOBP_GENERATION_OF_PRECURSOR_METABOLITES_AND_ENERGY, MILI_PSEUDOPODIA_HAPTOTAXIS_UP, KOYAMA_SEMA3B_TARGETS_UP, GOBP_OXIDATIVE_PHOSPHORYLATION, GOBP_ELECTRON_TRANSPORT_CHAIN, KEGG_HUNTINGTONS_DISEASE, GOCC_MITOCHONDRIAL_ENVELOPE, GOBP_DEVELOPMENTAL_PROCESS_INVOLVED_IN_REPRODUCTION, WONG_MITOCHONDRIA_GENE_MODULE, GOBP_CELLULAR_RESPIRATION, ACEVEDO_METHYLATED_IN_LIVER_CANCER_DN, KEGG_ALZHEIMERS_DISEASE, GOCC_CYTOCHROME_COMPLEX

GO Biological Process (3): mitochondrial electron transport, cytochrome c to oxygen (GO:0006123), spermatogenesis (GO:0007283), oxidative phosphorylation (GO:0006119)

GO Molecular Function (0):

GO Cellular Component (4): mitochondrion (GO:0005739), mitochondrial inner membrane (GO:0005743), respiratory chain complex IV (GO:0045277), membrane (GO:0016020)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
aerobic electron transport chain	1
mitochondrial ATP synthesis coupled electron transport	1
developmental process involved in reproduction	1
male gamete generation	1
aerobic respiration	1
proton motive force-driven ATP synthesis	1
cytoplasm	1
intracellular membrane-bounded organelle	1
organelle inner membrane	1
mitochondrial membrane	1
cytochrome complex	1
respiratory chain complex	1
transmembrane transporter complex	1
oxidoreductase complex	1
cellular anatomical structure	1

Protein interactions and networks

STRING

632 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
COX7B2	BPIFA1	Q9NP55	825
COX7B2	MECOM	Q03112	649
COX7B2	TNFRSF19	Q9NS68	589
COX7B2	CDKN2B	P42772	547
COX7B2	AQP7B	A0A075B734	507
COX7B2	TTLL2	Q9BWV7	497
COX7B2	COX8C	Q7Z4L0	488
COX7B2	DMXL1	Q9Y485	460
COX7B2	GPR153	Q6NV75	459
COX7B2	PLEKHG1	Q9ULL1	453
COX7B2	COX6B2	Q6YFQ2	432
COX7B2	ADSL	P30566	425
COX7B2	BCAS3	Q9H6U6	423
COX7B2	COX7A2	P14406	422
COX7B2	KCTD8	Q6ZWB6	418

IntAct

2 interactions, top by confidence:

A	B	Type	Score
COX7B2	COX7A2L	psi-mi:“MI:0914”(association)	0.350

BioGRID (11): COX6B1 (Affinity Capture-MS), COX7A2 (Affinity Capture-MS), COX6C (Affinity Capture-MS), COX5B (Affinity Capture-MS), COX4I1 (Affinity Capture-MS), UQCRQ (Affinity Capture-MS), HECTD3 (Affinity Capture-MS), COX1 (Affinity Capture-MS), COX7A2L (Affinity Capture-MS), MBOAT7 (Affinity Capture-MS), UQCRB (Affinity Capture-MS)

ESM2 similar proteins: A5Z2X5, A6H666, A8WGU8, D6X268, O43674, O43677, O74471, P04039, P0CB69, P0CB70, P10175, P16221, P48772, P56393, P80431, Q02376, Q02380, Q08CE7, Q0MQC7, Q0MQD6, Q0MQD7, Q0MQD8, Q0MQF5, Q0MQF6, Q17ED3, Q28ED6, Q290M9, Q2M2S2, Q4R4E0, Q4R648, Q5XG64, Q7JX57, Q7QHP6, Q7TNN2, Q7YRF4, Q862Z8, Q863F9, Q863G0, Q863G5, Q863G6

Diamond homologs: P13183, P24311, P56393, P80431, Q4R648, Q5R9K2, Q8TF08

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	13
Likely benign	0
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

1165 predictions. Top by Δscore:

Variant	Effect	Δscore
4:46735242:C:CC	acceptor_gain	0.9800
4:46797612:T:A	donor_gain	0.9800
4:46909157:TACC:T	donor_loss	0.9800
4:46909158:A:AC	donor_gain	0.9800
4:46909158:A:T	donor_loss	0.9800
4:46909159:C:A	donor_loss	0.9800
4:46909159:C:CC	donor_gain	0.9800
4:46735238:GAGG:G	acceptor_gain	0.9700
4:46836443:A:AC	donor_gain	0.9700
4:46735237:AGAGG:A	acceptor_gain	0.9600
4:46735238:GAGGC:G	acceptor_loss	0.9500
4:46735240:GG:G	acceptor_gain	0.9500
4:46735241:GCTGG:G	acceptor_loss	0.9500
4:46735242:CT:C	acceptor_loss	0.9500
4:46892222:TAGA:T	acceptor_gain	0.9300
4:46892226:C:CC	acceptor_gain	0.9300
4:46735244:G:C	acceptor_loss	0.9200
4:46760989:T:TA	donor_gain	0.9100
4:46909158:AC:A	donor_gain	0.9100
4:46909159:CC:C	donor_gain	0.9100
4:46909159:CCAA:C	donor_gain	0.9100
4:46735239:AGG:A	acceptor_gain	0.9000
4:46909159:CCA:C	donor_gain	0.9000
4:46786951:T:TA	donor_gain	0.8900
4:46769277:A:C	donor_gain	0.8800
4:46835456:A:C	donor_gain	0.8800
4:46834220:A:C	donor_gain	0.8700
4:46844900:CTT:C	donor_gain	0.8700
4:46844901:TTT:T	donor_gain	0.8700
4:46844902:TTT:T	donor_gain	0.8700

AlphaMissense

537 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
4:46735091:A:C	F34L	0.936
4:46735091:A:T	F34L	0.936
4:46735093:A:G	F34L	0.936
4:46734959:C:A	W78C	0.905
4:46734959:C:G	W78C	0.905
4:46735000:A:G	W65R	0.864
4:46735000:A:T	W65R	0.864
4:46734998:C:A	W65C	0.855
4:46734998:C:G	W65C	0.855
4:46734961:A:G	W78R	0.852
4:46734961:A:T	W78R	0.852
4:46735045:A:G	C50R	0.833
4:46735033:A:G	W54R	0.825
4:46735033:A:T	W54R	0.825
4:46735058:A:C	S45R	0.820
4:46735058:A:T	S45R	0.820
4:46735060:T:G	S45R	0.820
4:46735046:G:C	F49L	0.802
4:46735046:G:T	F49L	0.802
4:46735048:A:G	F49L	0.802
4:46735041:A:T	V51D	0.800
4:46735092:A:C	F34C	0.770
4:46735077:C:A	G39V	0.756
4:46735062:G:T	A44D	0.738
4:46735050:G:T	A48D	0.736
4:46735068:A:T	V42E	0.734
4:46735092:A:G	F34S	0.729
4:46735038:G:T	A52D	0.715
4:46734960:C:A	W78L	0.695
4:46734960:C:G	W78S	0.695

dbSNP variants (sampled 300 via entrez): RS1000005790 (4:46822381 A>T), RS1000009873 (4:46784429 A>T), RS1000031904 (4:46868343 T>G), RS1000046409 (4:46903261 G>A,C), RS1000056926 (4:46829754 G>T), RS1000068701 (4:46740113 G>A), RS1000075247 (4:46908837 C>A,T), RS1000102233 (4:46862509 T>C), RS1000104511 (4:46785383 T>C), RS10001459 (4:46749524 T>A,C), RS10001484 (4:46749600 T>A), RS1000160464 (4:46752470 TGAGAGAG>T), RS1000168302 (4:46761972 C>G,T), RS1000195667 (4:46805628 C>A), RS1000221630 (4:46764148 T>C)

Disease associations

OMIM: gene MIM:609811 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

3 associations (top):

Study	Trait	p-value
GCST002123_1	Type 2 diabetes	1.000000e-06
GCST003262_342	Post bronchodilator FEV1	4.000000e-06
GCST003901_4	Cognitive decline (age-related)	5.000000e-07

EFO canonical traits (1, from GWAS)

EFO ID	Trait name
EFO:0004314	forced expiratory volume

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

6 total (human), top 6 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Benzo(a)pyrene	affects methylation, increases expression, increases methylation	2
bisphenol A	decreases expression	1
CGP 52608	affects binding, increases reaction	1
Calcitriol	increases expression, affects cotreatment	1
Testosterone	affects cotreatment, increases expression	1
Valproic Acid	decreases methylation	1

Clinical trials (associated diseases)

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