COX5B
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Summary
COX5B (cytochrome c oxidase subunit 5B, HGNC:2269) is a protein-coding gene on chromosome 2q11.2, encoding Cytochrome c oxidase subunit 5B, mitochondrial (P10606). 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: 53.1% of cell lines).
Cytochrome C oxidase (COX) is the terminal enzyme of the mitochondrial respiratory chain. It is a multi-subunit enzyme complex that couples the transfer of electrons from cytochrome c to molecular oxygen and contributes to a proton electrochemical gradient across the inner mitochondrial membrane. The complex consists of 13 mitochondrial- and nuclear-encoded subunits. The mitochondrially-encoded subunits perform the electron transfer and proton pumping activities. The functions of the nuclear-encoded subunits are unknown but they may play a role in the regulation and assembly of the complex. This gene encodes the nuclear-encoded subunit Vb of the human mitochondrial respiratory chain enzyme.
Source: NCBI Gene 1329 — RefSeq curated summary.
At a glance
- GWAS associations: 8
- Clinical variants (ClinVar): 23 total
- Druggable target: yes
- Cancer dependency (DepMap): dependent in 53.1% of screened cell lines
- MANE Select transcript:
NM_001862
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:2269 |
| Approved symbol | COX5B |
| Name | cytochrome c oxidase subunit 5B |
| Location | 2q11.2 |
| Locus type | gene with protein product |
| Status | Approved |
| Ensembl gene | ENSG00000135940 |
| Ensembl biotype | protein_coding |
| OMIM | 123866 |
| Entrez | 1329 |
Gene structure
Transcript identifiers
Ensembl transcripts: 9 — 6 protein_coding, 2 protein_coding_CDS_not_defined, 1 retained_intron
ENST00000258424, ENST00000464949, ENST00000491989, ENST00000494306, ENST00000867154, ENST00000867155, ENST00000867156, ENST00000923575, ENST00000961195
RefSeq mRNA: 1 — MANE Select: NM_001862
NM_001862
CCDS: CCDS2032
Canonical transcript exons
ENST00000258424 — 4 exons
| Exon | Start | End |
|---|---|---|
| ENSE00000921817 | 97646062 | 97646189 |
| ENSE00001907403 | 97647996 | 97648383 |
| ENSE00003510308 | 97647344 | 97647443 |
| ENSE00003633849 | 97647067 | 97647140 |
Expression profiles
Bgee: expression breadth ubiquitous, 295 present calls, max score 99.74.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 323.1226 / max 2689.2048, expressed in 1828 samples.
FANTOM5 promoters (2 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 21506 | 320.2167 | 1828 |
| 21507 | 2.9059 | 557 |
Top tissues by expression
295 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| heart right ventricle | UBERON:0002080 | 99.74 | gold quality |
| apex of heart | UBERON:0002098 | 99.69 | gold quality |
| vastus lateralis | UBERON:0001379 | 99.65 | gold quality |
| cardiac ventricle | UBERON:0002082 | 99.64 | gold quality |
| heart left ventricle | UBERON:0002084 | 99.63 | gold quality |
| quadriceps femoris | UBERON:0001377 | 99.62 | gold quality |
| biceps brachii | UBERON:0001507 | 99.62 | gold quality |
| skeletal muscle tissue of biceps brachii | UBERON:0004502 | 99.62 | gold quality |
| body of tongue | UBERON:0011876 | 99.62 | gold quality |
| lateral nuclear group of thalamus | UBERON:0002736 | 99.60 | gold quality |
| skeletal muscle tissue of rectus abdominis | UBERON:0004511 | 99.60 | gold quality |
| renal medulla | UBERON:0000362 | 99.57 | gold quality |
| triceps brachii | UBERON:0001509 | 99.57 | gold quality |
| right atrium auricular region | UBERON:0006631 | 99.57 | gold quality |
| cardiac atrium | UBERON:0002081 | 99.55 | gold quality |
| hindlimb stylopod muscle | UBERON:0004252 | 99.54 | gold quality |
| skeletal muscle tissue | UBERON:0001134 | 99.53 | gold quality |
| mucosa of transverse colon | UBERON:0004991 | 99.53 | gold quality |
| vena cava | UBERON:0004087 | 99.52 | gold quality |
| substantia nigra pars compacta | UBERON:0001965 | 99.49 | gold quality |
| substantia nigra pars reticulata | UBERON:0001966 | 99.49 | gold quality |
| mucosa of sigmoid colon | UBERON:0004993 | 99.49 | gold quality |
| diaphragm | UBERON:0001103 | 99.47 | gold quality |
| myocardium | UBERON:0002349 | 99.47 | gold quality |
| heart | UBERON:0000948 | 99.45 | gold quality |
| colonic mucosa | UBERON:0000317 | 99.44 | gold quality |
| gastrocnemius | UBERON:0001388 | 99.43 | gold quality |
| Brodmann (1909) area 9 | UBERON:0013540 | 99.43 | gold quality |
| deltoid | UBERON:0001476 | 99.41 | gold quality |
| muscle organ | UBERON:0001630 | 99.41 | gold quality |
Single-cell (SCXA)
Detected in 8 experiment(s), a significant marker in 6.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-MTAB-8410 | yes | 55.83 |
| E-HCAD-10 | yes | 31.18 |
| E-MTAB-10042 | yes | 11.71 |
| E-CURD-114 | yes | 10.28 |
| E-MTAB-7316 | yes | 8.76 |
| E-MTAB-6819 | no | 686.11 |
| E-GEOD-110499 | no | 287.22 |
| E-ANND-3 | no | 0.00 |
Regulation
Is transcription factor: no
Upstream regulators (CollecTRI, top): PPARGC1A, SP1, USF2, YY1
Functional genomics
DepMap (CRISPR cell-line fitness): dependent in 53.1% of screened cell lines.
Literature-anchored findings (GeneRIF, showing 7)
- Data show that Bcl-2 expression positively influences the targeting of nuclear-encoded COX Va and Vb to the mitochondria of cancer cells. (PMID:19834492)
- Transfected the A549 cells with COX Vb small interfering or shRNA and observed a significant reduction of their COX activity, oxygen consumption, ATP and ability to grow in soft agar and as poorly differentiated tumors in athymic mice. (PMID:22917272)
- silence of COX5B leads to metabolic disorders, such as increased glucose uptake and decreased lactate secretion (PMID:26506233)
- Our results suggest that COX5B protein level might be associated with tumor size. COX5B overexpression indicated a worse DFS (p < 0.05) in breast cancer. (PMID:28592145)
- These experiments suggest that the FAD group of cytochrome b5 reductase increase its solvent exposition upon complex formation promoting an efficient electron transfer between the proteins. (PMID:29111436)
- Systematic expression analysis of the mitochondrial respiratory chain protein subunits identifies COX5B as a prognostic marker in clear cell renal cell carcinoma. (PMID:31280487)
- Heart proteomic profiling discovers MYH6 and COX5B as biomarkers for sudden unexplained death. (PMID:38971138)
Cross-species orthologs
8 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | cox5ba | ENSDARG00000015978 |
| danio_rerio | cox5b2 | ENSDARG00000068738 |
| danio_rerio | cox5bb | ENSDARG00000113254 |
| mus_musculus | Cox5b | ENSMUSG00000061518 |
| mus_musculus | Cox5b-ps | ENSMUSG00000079941 |
| rattus_norvegicus | Cox5b | ENSRNOG00000016660 |
| drosophila_melanogaster | COX5B | FBGN0031830 |
| drosophila_melanogaster | COX5BL | FBGN0031831 |
Protein
Protein identifiers
Cytochrome c oxidase subunit 5B, mitochondrial — P10606 (reviewed: P10606)
Alternative names: Cytochrome c oxidase polypeptide Vb
All UniProt accessions (2): A0A384NL93, P10606
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.
Pathway. Energy metabolism; oxidative phosphorylation.
Similarity. Belongs to the cytochrome c oxidase subunit 5B family.
RefSeq proteins (1): NP_001853* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR002124 | Cyt_c_oxidase_su5b | Family |
| IPR036972 | Cyt_c_oxidase_su5b_sf | Homologous_superfamily |
Pfam: PF01215
UniProt features (11 total): binding site 4, modified residue 3, sequence conflict 2, transit peptide 1, chain 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-P10606-F1 | 85.75 | 0.69 |
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 (4): 91; 93; 113; 116
Post-translational modifications (3): 68, 86, 121
Function
Pathways and Gene Ontology
Reactome pathways
5 pathways
| ID | Pathway |
|---|---|
| R-HSA-5628897 | TP53 Regulates Metabolic Genes |
| R-HSA-611105 | Respiratory electron transport |
| R-HSA-9707564 | Cytoprotection by HMOX1 |
| R-HSA-9837999 | Mitochondrial protein degradation |
| R-HSA-9864848 | Complex IV assembly |
MSigDB gene sets: 196 (showing top):
MODULE_93, GOBP_RESPIRATORY_GASEOUS_EXCHANGE_BY_RESPIRATORY_SYSTEM, MODULE_151, ENK_UV_RESPONSE_KERATINOCYTE_UP, STARK_PREFRONTAL_CORTEX_22Q11_DELETION_DN, MORF_UBE2I, MORF_HDAC1, ACEVEDO_NORMAL_TISSUE_ADJACENT_TO_LIVER_TUMOR_DN, THEILGAARD_NEUTROPHIL_AT_SKIN_WOUND_DN, DARWICHE_SKIN_TUMOR_PROMOTER_UP, DARWICHE_PAPILLOMA_RISK_LOW_UP, DARWICHE_PAPILLOMA_RISK_HIGH_UP, DARWICHE_SQUAMOUS_CELL_CARCINOMA_UP, TGACCTY_ERR1_Q2, GOBP_MONOATOMIC_CATION_TRANSPORT
GO Biological Process (5): mitochondrial electron transport, cytochrome c to oxygen (GO:0006123), respiratory gaseous exchange by respiratory system (GO:0007585), cellular respiration (GO:0045333), oxidative phosphorylation (GO:0006119), proton transmembrane transport (GO:1902600)
GO Molecular Function (3): cytochrome-c oxidase activity (GO:0004129), metal ion binding (GO:0046872), protein binding (GO:0005515)
GO Cellular Component (7): acrosomal vesicle (GO:0001669), mitochondrion (GO:0005739), mitochondrial inner membrane (GO:0005743), mitochondrial membrane (GO:0031966), respiratory chain complex IV (GO:0045277), mitochondrial envelope (GO:0005740), membrane (GO:0016020)
Reactome top-level categories
Rollup of top-5 pathways:
| Category | Pathways |
|---|---|
| Transcriptional Regulation by TP53 | 1 |
| Aerobic respiration and respiratory electron transport | 1 |
| Cellular response to chemical stress | 1 |
| Metabolism of proteins | 1 |
| Respiratory electron transport | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| mitochondrion | 2 |
| aerobic electron transport chain | 1 |
| mitochondrial ATP synthesis coupled electron transport | 1 |
| multicellular organismal process | 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 |
| cation binding | 1 |
| binding | 1 |
| secretory granule | 1 |
| cytoplasm | 1 |
| intracellular membrane-bounded organelle | 1 |
| organelle inner membrane | 1 |
| mitochondrial membrane | 1 |
| mitochondrial envelope | 1 |
| organelle membrane | 1 |
| cytochrome complex | 1 |
| respiratory chain complex | 1 |
| transmembrane transporter complex | 1 |
| oxidoreductase complex | 1 |
| organelle envelope | 1 |
| cellular anatomical structure | 1 |
Protein interactions and networks
STRING
2348 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| COX5B | COX6C | P09669 | 991 |
| COX5B | COX5A | P20674 | 988 |
| COX5B | COX7C | P15954 | 983 |
| COX5B | COX7B | P24311 | 970 |
| COX5B | COX6B1 | P14854 | 968 |
| COX5B | COX6A1 | P12074 | 966 |
| COX5B | COX8A | P10176 | 965 |
| COX5B | COX4I1 | P13073 | 935 |
| COX5B | COX6A2 | Q02221 | 924 |
| COX5B | COX7A1 | P24310 | 883 |
| COX5B | CYCS | P00001 | 880 |
| COX5B | COX4I2 | Q96KJ9 | 869 |
| COX5B | UQCRC1 | P31930 | 827 |
| COX5B | ATP5PO | P48047 | 783 |
| COX5B | MT-CO1 | P00395 | 781 |
IntAct
215 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| COX5B | CDR2 | psi-mi:“MI:0915”(physical association) | 0.780 |
| CDR2 | COX5B | psi-mi:“MI:0915”(physical association) | 0.780 |
| TRIM23 | COX5B | psi-mi:“MI:0915”(physical association) | 0.740 |
| COX5B | TRIM23 | psi-mi:“MI:0915”(physical association) | 0.740 |
| BHLHE40 | COX5B | psi-mi:“MI:0915”(physical association) | 0.670 |
| COX5B | IHO1 | psi-mi:“MI:0915”(physical association) | 0.670 |
| TFIP11 | COX5B | psi-mi:“MI:0915”(physical association) | 0.670 |
| COX5B | BHLHE40 | psi-mi:“MI:0915”(physical association) | 0.670 |
| COX5B | TFIP11 | psi-mi:“MI:0915”(physical association) | 0.670 |
| COX5B | TASOR2 | psi-mi:“MI:0915”(physical association) | 0.670 |
| COX5B | HTT | psi-mi:“MI:0915”(physical association) | 0.670 |
| RAC1 | COX6C | psi-mi:“MI:0914”(association) | 0.640 |
| UQCRB | COX7A2L | psi-mi:“MI:0914”(association) | 0.640 |
BioGRID (196): COX5B (Two-hybrid), COX5B (Two-hybrid), KRT15 (Two-hybrid), KRT31 (Two-hybrid), TRAF1 (Two-hybrid), BHLHE40 (Two-hybrid), PNMA1 (Two-hybrid), TFIP11 (Two-hybrid), CCDC36 (Two-hybrid), COX5B (Affinity Capture-RNA), COX5B (Affinity Capture-RNA), COX5B (Affinity Capture-RNA), COX5B (Co-fractionation), COX5B (Co-fractionation), COX5B (Co-fractionation)
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: P00428, P04037, P06809, P10606, P12075, P19536, P79010, P80330, Q5REG2, Q5S3G4, Q710D6, Q9LW15, Q9SSB8, Q9SSS5, P29505
SIGNOR signaling
5 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| PPARGC1A | “up-regulates quantity by expression” | COX5B | “transcriptional regulation” |
| COX5B | up-regulates | Oxidative_phosphorylation | |
| COX5B | down-regulates | Skeletal_muscle_differentiation | |
| COX5B | down-regulates | Cell_cycle_exit | |
| COX5B | “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 135 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 | 11 | 28.9× | 2e-11 |
| Cytoprotection by HMOX1 | 8 | 16.9× | 2e-06 |
| Respiratory electron transport | 15 | 16.4× | 5e-12 |
| TP53 Regulates Metabolic Genes | 10 | 14.9× | 2e-07 |
| Mitochondrial protein degradation | 9 | 11.8× | 5e-06 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| mitochondrial electron transport, cytochrome c to oxygen | 9 | 60.0× | 1e-11 |
| cellular respiration | 9 | 33.8× | 2e-09 |
| generation of precursor metabolites and energy | 5 | 14.9× | 5e-03 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
23 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 16 |
| Likely benign | 2 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
375 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 2:97647062:TTTAG:T | acceptor_loss | 1.0000 |
| 2:97647064:TAGGT:T | acceptor_loss | 1.0000 |
| 2:97647065:A:AG | acceptor_gain | 1.0000 |
| 2:97647065:AGGT:A | acceptor_gain | 1.0000 |
| 2:97647066:G:GC | acceptor_loss | 1.0000 |
| 2:97647066:G:GG | acceptor_gain | 1.0000 |
| 2:97647066:GGT:G | acceptor_gain | 1.0000 |
| 2:97647066:GGTG:G | acceptor_gain | 1.0000 |
| 2:97647136:GACTG:G | donor_gain | 1.0000 |
| 2:97647138:CTGGT:C | donor_loss | 1.0000 |
| 2:97647139:TGGT:T | donor_loss | 1.0000 |
| 2:97647140:GGT:G | donor_loss | 1.0000 |
| 2:97647141:G:GG | donor_gain | 1.0000 |
| 2:97647141:GTAA:G | donor_loss | 1.0000 |
| 2:97647142:T:A | donor_loss | 1.0000 |
| 2:97647330:T:TA | acceptor_gain | 1.0000 |
| 2:97647439:CATCT:C | donor_gain | 1.0000 |
| 2:97647440:ATCTG:A | donor_loss | 1.0000 |
| 2:97647441:TCT:T | donor_gain | 1.0000 |
| 2:97647442:CT:C | donor_gain | 1.0000 |
| 2:97647442:CTGTA:C | donor_loss | 1.0000 |
| 2:97647443:TG:T | donor_loss | 1.0000 |
| 2:97647444:G:A | donor_loss | 1.0000 |
| 2:97647444:G:GG | donor_gain | 1.0000 |
| 2:97647445:T:G | donor_loss | 1.0000 |
| 2:97647446:AAGTA:A | donor_loss | 1.0000 |
| 2:97646187:G:GT | donor_gain | 0.9900 |
| 2:97646389:A:T | donor_gain | 0.9900 |
| 2:97646404:G:GT | donor_gain | 0.9900 |
| 2:97647065:AG:A | acceptor_gain | 0.9900 |
AlphaMissense
816 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 2:97647405:T:A | V80D | 0.991 |
| 2:97648025:T:C | F103L | 0.986 |
| 2:97648027:T:A | F103L | 0.986 |
| 2:97648027:T:G | F103L | 0.986 |
| 2:97647093:G:C | A44P | 0.985 |
| 2:97648022:T:A | W102R | 0.983 |
| 2:97648022:T:C | W102R | 0.983 |
| 2:97648026:T:C | F103S | 0.978 |
| 2:97647427:A:C | R87S | 0.976 |
| 2:97647427:A:T | R87S | 0.976 |
| 2:97647435:G:A | G90D | 0.976 |
| 2:97647437:T:A | C91S | 0.976 |
| 2:97647438:G:C | C91S | 0.976 |
| 2:97647410:T:C | S82P | 0.971 |
| 2:97648055:T:C | C113R | 0.970 |
| 2:97648024:G:C | W102C | 0.967 |
| 2:97648024:G:T | W102C | 0.967 |
| 2:97647432:T:A | V89E | 0.966 |
| 2:97647100:G:A | G46E | 0.965 |
| 2:97647437:T:C | C91R | 0.965 |
| 2:97648076:T:G | Y120D | 0.965 |
| 2:97648055:T:A | C113S | 0.964 |
| 2:97648056:G:C | C113S | 0.964 |
| 2:97648017:T:A | V100D | 0.962 |
| 2:97648064:T:A | C116S | 0.958 |
| 2:97648065:G:C | C116S | 0.958 |
| 2:97647434:G:C | G90R | 0.953 |
| 2:97648064:T:C | C116R | 0.952 |
| 2:97647438:G:A | C91Y | 0.950 |
| 2:97647411:C:T | S82F | 0.946 |
dbSNP variants (sampled 300 via entrez): RS1000155022 (2:97646859 A>G), RS1001217359 (2:97645856 C>A,T), RS1001316585 (2:97644802 T>A), RS1001681184 (2:97645209 C>A), RS1002008531 (2:97646244 C>A), RS1002038180 (2:97644493 T>A), RS1002387531 (2:97644897 T>G), RS1002759779 (2:97648437 A>G), RS1002987268 (2:97646050 C>A,G,T), RS1003682933 (2:97647738 G>A,T), RS1004143280 (2:97646623 A>G), RS1004387017 (2:97647658 G>C), RS1004477477 (2:97648248 A>C,T), RS1004780628 (2:97647907 G>A,T), RS1006793582 (2:97645958 G>A,C)
Disease associations
OMIM: gene MIM:123866 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
8 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST008103_128 | Bipolar disorder | 2.000000e-06 |
| GCST010697_1 | Cortical surface area (min-P) | 6.000000e-12 |
| GCST010698_17 | Subcortical volume (min-P) | 9.000000e-09 |
| GCST010699_105 | Brain morphology (min-P) | 2.000000e-11 |
| GCST010700_9 | Cortical thickness (MOSTest) | 9.000000e-14 |
| GCST010701_54 | Cortical surface area (MOSTest) | 2.000000e-16 |
| GCST010702_79 | Subcortical volume (MOSTest) | 5.000000e-09 |
| GCST010703_322 | Brain morphology (MOSTest) | 1.000000e-10 |
EFO canonical traits (2, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0004346 | neuroimaging measurement |
| EFO:0004840 | cortical thickness |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: yes
ChEMBL targets (1): CHEMBL6066966 (SINGLE PROTEIN)
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
46 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| bisphenol A | affects expression, decreases expression, increases expression | 3 |
| tris(2-butoxyethyl) phosphate | increases expression, decreases expression, increases abundance | 2 |
| chloropicrin | affects expression, decreases expression | 2 |
| Vorinostat | increases expression | 2 |
| Atrazine | affects expression, decreases expression | 2 |
| Benzo(a)pyrene | decreases expression, decreases methylation | 2 |
| Cadmium | increases abundance, increases expression, decreases expression | 2 |
| 7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide | decreases expression, increases expression | 2 |
| Particulate Matter | affects expression, increases abundance, decreases expression | 2 |
| dicrotophos | decreases expression | 1 |
| triphenyl phosphate | affects expression | 1 |
| deoxynivalenol | decreases expression | 1 |
| trichostatin A | increases expression | 1 |
| arsenite | affects binding, increases reaction | 1 |
| methylparaben | decreases expression | 1 |
| tetrathiomolybdate | increases expression | 1 |
| perfluorooctanoic acid | decreases expression | 1 |
| ochratoxin A | increases expression | 1 |
| myricetin | increases expression | 1 |
| 1-methyl-4-phenyl-2,3-dihydropyridinium | 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 |
| 3-(4’-hydroxy-3’-adamantylbiphenyl-4-yl)acrylic acid | decreases expression | 1 |
| LDN 193189 | affects cotreatment, decreases expression | 1 |
| bisphenol AF | increases expression | 1 |
| Temozolomide | decreases expression | 1 |
| Decitabine | increases expression | 1 |
| Air Pollutants | affects expression, increases abundance | 1 |
| Succimer | affects cotreatment, decreases expression | 1 |
| Environmental Pollutants | affects expression | 1 |
| Estradiol | decreases 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 |
|---|---|---|---|
| CHEMBL5651172 | Binding | Binding affinity to human COX5B 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.
Related Atlas pages
No linked Atlas pages yet — the cross-entity mesh grows as the corpus expands.