COX7A2
gene geneOn this page
Also known as COXVIIa-LCOX7AL
Summary
COX7A2 (cytochrome c oxidase subunit 7A2, HGNC:2288) is a protein-coding gene on chromosome 6q14.1, encoding Cytochrome c oxidase subunit 7A2, mitochondrial (P14406). Component of the cytochrome c oxidase, the last enzyme in the mitochondrial electron transport chain which drives oxidative phosphorylation.
Cytochrome c oxidase, 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 three catalytic subunits encoded by mitochondrial genes, and multiple structural subunits encoded by nuclear genes. The mitochondrially-encoded subunits function in electron transfer, while the nuclear-encoded subunits may function in the regulation and assembly of the complex. This nuclear gene encodes polypeptide 2 (liver isoform) of subunit VIIa, with this polypeptide being present in both muscle and non-muscle tissues. In addition to polypeptide 2, subunit VIIa includes polypeptide 1 (muscle isoform), which is present only in muscle tissues, and a related protein, which is present in all tissues. Alternative splicing results in multiple transcript variants. Related pseudogenes have been identified on chromosomes 4 and 14.
Source: NCBI Gene 1347 — RefSeq curated summary.
At a glance
- Clinical variants (ClinVar): 34 total — 1 pathogenic
- MANE Select transcript:
NM_001366293
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:2288 |
| Approved symbol | COX7A2 |
| Name | cytochrome c oxidase subunit 7A2 |
| Location | 6q14.1 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | COXVIIa-L, COX7AL |
| Ensembl gene | ENSG00000112695 |
| Ensembl biotype | protein_coding |
| OMIM | 123996 |
| Entrez | 1347 |
Gene structure
Transcript identifiers
Ensembl transcripts: 22 — 20 protein_coding, 1 nonsense_mediated_decay, 1 retained_intron
ENST00000370081, ENST00000370089, ENST00000377978, ENST00000459637, ENST00000460985, ENST00000472311, ENST00000481061, ENST00000509698, ENST00000684430, ENST00000899321, ENST00000899322, ENST00000899323, ENST00000899324, ENST00000940716, ENST00000940717, ENST00000940718, ENST00000940719, ENST00000940720, ENST00000940721, ENST00000940722, ENST00000940723, ENST00000940724
RefSeq mRNA: 3 — MANE Select: NM_001366293
NM_001366292, NM_001366293, NM_001865
CCDS: CCDS34486
Canonical transcript exons
ENST00000684430 — 4 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001878090 | 75243717 | 75243801 |
| ENSE00002040866 | 75241176 | 75241265 |
| ENSE00003617043 | 75237787 | 75237988 |
| ENSE00003789817 | 75240301 | 75240385 |
Expression profiles
Bgee: expression breadth ubiquitous, 295 present calls, max score 99.95.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 92.5621 / max 679.9277, expressed in 1822 samples.
FANTOM5 promoters (3 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 74459 | 92.5421 | 1822 |
| 74460 | 0.0150 | 3 |
| 74461 | 0.0050 | 3 |
Top tissues by expression
295 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| endothelial cell | CL:0000115 | 99.95 | gold quality |
| left testis | UBERON:0004533 | 99.84 | gold quality |
| right testis | UBERON:0004534 | 99.84 | gold quality |
| adult organism | UBERON:0007023 | 99.80 | gold quality |
| pancreatic ductal cell | CL:0002079 | 99.76 | gold quality |
| heart right ventricle | UBERON:0002080 | 99.73 | gold quality |
| Brodmann (1909) area 23 | UBERON:0013554 | 99.69 | gold quality |
| sperm | CL:0000019 | 99.64 | gold quality |
| male germ cell | CL:0000015 | 99.62 | gold quality |
| apex of heart | UBERON:0002098 | 99.61 | gold quality |
| primary visual cortex | UBERON:0002436 | 99.61 | gold quality |
| esophagus squamous epithelium | UBERON:0006920 | 99.61 | gold quality |
| colonic mucosa | UBERON:0000317 | 99.56 | gold quality |
| prefrontal cortex | UBERON:0000451 | 99.56 | gold quality |
| lateral nuclear group of thalamus | UBERON:0002736 | 99.56 | gold quality |
| mucosa of sigmoid colon | UBERON:0004993 | 99.55 | gold quality |
| jejunal mucosa | UBERON:0000399 | 99.53 | gold quality |
| mucosa of transverse colon | UBERON:0004991 | 99.53 | gold quality |
| palpebral conjunctiva | UBERON:0001812 | 99.50 | gold quality |
| oral cavity | UBERON:0000167 | 99.49 | gold quality |
| rectum | UBERON:0001052 | 99.49 | gold quality |
| gingival epithelium | UBERON:0001949 | 99.49 | gold quality |
| hair follicle | UBERON:0002073 | 99.48 | gold quality |
| cardiac ventricle | UBERON:0002082 | 99.48 | gold quality |
| heart left ventricle | UBERON:0002084 | 99.48 | gold quality |
| islet of Langerhans | UBERON:0000006 | 99.47 | gold quality |
| epithelium of esophagus | UBERON:0001976 | 99.47 | gold quality |
| amygdala | UBERON:0001876 | 99.46 | gold quality |
| epithelium of nasopharynx | UBERON:0001951 | 99.46 | gold quality |
| occipital lobe | UBERON:0002021 | 99.46 | gold quality |
Single-cell (SCXA)
Detected in 17 experiment(s), a significant marker in 9.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-GEOD-134144 | yes | 6092.53 |
| E-MTAB-8410 | yes | 45.16 |
| E-HCAD-1 | yes | 39.25 |
| E-MTAB-9467 | yes | 30.45 |
| E-MTAB-7316 | yes | 22.32 |
| E-HCAD-11 | yes | 19.61 |
| E-MTAB-10042 | yes | 11.50 |
| E-MTAB-8142 | yes | 10.58 |
| E-HCAD-5 | no | 1959.01 |
| E-MTAB-7303 | no | 1676.07 |
| E-MTAB-10596 | no | 990.75 |
| E-MTAB-8060 | no | 979.00 |
| E-GEOD-83139 | no | 770.64 |
| E-CURD-53 | no | 548.71 |
| E-HCAD-30 | no | 315.29 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
32 targeting COX7A2, 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-513B-5P | 99.99 | 69.96 | 2150 |
| HSA-MIR-7152-3P | 99.97 | 67.47 | 849 |
| HSA-MIR-106A-5P | 99.90 | 73.94 | 2683 |
| HSA-MIR-95-5P | 99.89 | 72.17 | 3973 |
| HSA-MIR-17-5P | 99.89 | 73.83 | 2665 |
| HSA-MIR-106B-5P | 99.88 | 74.72 | 2795 |
| HSA-MIR-20A-5P | 99.88 | 74.76 | 2769 |
| HSA-MIR-20B-5P | 99.88 | 74.01 | 2621 |
| HSA-MIR-519D-3P | 99.88 | 73.97 | 2607 |
| HSA-MIR-526B-3P | 99.88 | 74.06 | 2587 |
| HSA-MIR-93-5P | 99.88 | 73.98 | 2606 |
| HSA-MIR-548AU-3P | 99.70 | 68.22 | 1373 |
| HSA-MIR-3609 | 99.52 | 69.89 | 2587 |
| HSA-MIR-548AH-5P | 99.52 | 69.73 | 2626 |
| HSA-MIR-4460 | 99.37 | 68.52 | 615 |
| HSA-MIR-6882-5P | 99.35 | 71.13 | 1206 |
| HSA-MIR-3160-5P | 99.28 | 69.07 | 1938 |
| HSA-MIR-3688-5P | 99.12 | 69.67 | 1091 |
| HSA-MIR-4796-3P | 99.08 | 68.38 | 1681 |
| HSA-MIR-3160-3P | 99.07 | 64.78 | 955 |
| HSA-MIR-4478 | 99.07 | 65.16 | 2320 |
| HSA-MIR-4738-3P | 98.98 | 67.98 | 1846 |
| HSA-MIR-361-5P | 98.95 | 70.16 | 1340 |
| HSA-MIR-374A-3P | 98.87 | 67.82 | 1531 |
| HSA-MIR-4724-5P | 98.87 | 67.75 | 1324 |
| HSA-MIR-5197-3P | 98.71 | 67.05 | 1905 |
| HSA-MIR-640 | 98.44 | 66.93 | 644 |
| HSA-MIR-224-5P | 98.33 | 70.12 | 1256 |
| HSA-MIR-4642 | 97.52 | 67.60 | 916 |
| HSA-MIR-4727-3P | 96.75 | 64.97 | 415 |
Literature-anchored findings (GeneRIF, showing 2)
- COX7A2, TAGLN2 and S100-A10 as novel prognostic markers in Barrett’s adenocarcinoma. (PMID:22365974)
- Overexpression of COX7A2 is associated with a good prognosis in patients with glioma. Results suggest that COX7A2 could be served as a valuable prognostic marker of glioma. (PMID:29079956)
Cross-species orthologs
7 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | cox7a2a | ENSDARG00000053217 |
| danio_rerio | COX7A2 | ENSDARG00000110700 |
| mus_musculus | Cox7a2 | ENSMUSG00000032330 |
| rattus_norvegicus | AABR07012587.1 | ENSRNOG00000002223 |
| rattus_norvegicus | Cox7a2 | ENSRNOG00000042903 |
| drosophila_melanogaster | COX7AL | FBGN0037579 |
| drosophila_melanogaster | COX7AL2 | FBGN0085201 |
Paralogs (2): COX7A2L (ENSG00000115944), COX7A1 (ENSG00000161281)
Protein
Protein identifiers
Cytochrome c oxidase subunit 7A2, mitochondrial — P14406 (reviewed: P14406)
Alternative names: Cytochrome c oxidase subunit VIIa-liver/heart
All UniProt accessions (7): P14406, D6R9C3, D6RA35, D6RGV5, D6RIE3, H0UI06, H0Y8S6
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)). Interacts with PET100.
Subcellular location. Mitochondrion inner membrane.
Pathway. Energy metabolism; oxidative phosphorylation.
Similarity. Belongs to the cytochrome c oxidase VIIa family.
RefSeq proteins (3): NP_001353221, NP_001353222, NP_001856 (=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR003177 | Cytc_oxidase_su7a_met | Family |
| IPR036539 | Cyt_c_oxidase_su7a_sf | Homologous_superfamily |
| IPR039297 | COX7a | Family |
Pfam: PF02238
UniProt features (7 total): topological domain 2, transit peptide 1, chain 1, transmembrane region 1, modified residue 1, sequence variant 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-P14406-F1 | 87.99 | 0.63 |
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): 33
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: 198 (showing top):
MODULE_93, MODULE_151, STARK_PREFRONTAL_CORTEX_22Q11_DELETION_DN, HSIAO_HOUSEKEEPING_GENES, GOBP_GENERATION_OF_PRECURSOR_METABOLITES_AND_ENERGY, GGAANCGGAANY_UNKNOWN, GOBP_OXIDATIVE_PHOSPHORYLATION, WCTCNATGGY_UNKNOWN, GOBP_ELECTRON_TRANSPORT_CHAIN, KEGG_HUNTINGTONS_DISEASE, MODULE_307, GOCC_MITOCHONDRIAL_ENVELOPE, SCHLOSSER_SERUM_RESPONSE_DN, WONG_MITOCHONDRIA_GENE_MODULE, GOBP_CELLULAR_RESPIRATION
GO Biological Process (4): oxidative phosphorylation (GO:0006119), mitochondrial electron transport, cytochrome c to oxygen (GO:0006123), cellular respiration (GO:0045333), proton transmembrane transport (GO:1902600)
GO Molecular Function (3): oxidoreductase activity (GO:0016491), cytochrome-c oxidase activity (GO:0004129), protein binding (GO:0005515)
GO Cellular Component (6): mitochondrion (GO:0005739), mitochondrial inner membrane (GO:0005743), mitochondrial membrane (GO:0031966), respiratory chain complex IV (GO:0045277), respiratory chain complex (GO:0098803), 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 |
|---|---|
| aerobic respiration | 1 |
| proton motive force-driven ATP synthesis | 1 |
| aerobic electron transport chain | 1 |
| mitochondrial ATP synthesis coupled electron transport | 1 |
| energy derivation by oxidation of organic compounds | 1 |
| monoatomic cation transmembrane transport | 1 |
| catalytic activity | 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 |
| binding | 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 |
| protein-containing complex | 1 |
| cellular anatomical structure | 1 |
Protein interactions and networks
STRING
1781 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| COX7A2 | COX6A1 | P12074 | 927 |
| COX7A2 | COX6B1 | P14854 | 805 |
| COX7A2 | COX5B | P10606 | 779 |
| COX7A2 | COXFA4 | O00483 | 755 |
| COX7A2 | COX6C | P09669 | 735 |
| COX7A2 | COX8A | P10176 | 705 |
| COX7A2 | COX7B | P24311 | 687 |
| COX7A2 | UQCRH | P07919 | 678 |
| COX7A2 | COX4I1 | P13073 | 678 |
| COX7A2 | ATP5ME | P56385 | 654 |
| COX7A2 | COX8C | Q7Z4L0 | 652 |
| COX7A2 | COX4I2 | Q96KJ9 | 649 |
| COX7A2 | COX7C | P15954 | 647 |
| COX7A2 | COX5A | P20674 | 642 |
| COX7A2 | NDUFAB1 | O14561 | 631 |
IntAct
81 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| NDUFS3 | NDUFS8 | psi-mi:“MI:0914”(association) | 0.730 |
| COX7A2 | COX6B1 | psi-mi:“MI:0914”(association) | 0.640 |
| COX7A2 | MEOX2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| MT-CO2 | COX6C | psi-mi:“MI:0915”(physical association) | 0.560 |
| CNDP1 | POTEF | psi-mi:“MI:0914”(association) | 0.530 |
| UQCRFS1 | NDUFAB1 | 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 |
| FOXH1 | DDX39A | psi-mi:“MI:0914”(association) | 0.350 |
| HSCB | RBP5 | psi-mi:“MI:0914”(association) | 0.350 |
| K8.1 | EXOC5 | psi-mi:“MI:0914”(association) | 0.350 |
| COX15 | SNRPGP15 | psi-mi:“MI:0914”(association) | 0.350 |
| SOAT1 | SNRPGP15 | psi-mi:“MI:0914”(association) | 0.350 |
| VDAC1 | SNRPGP15 | psi-mi:“MI:0914”(association) | 0.350 |
| Prdm16 | ESYT2 | psi-mi:“MI:0914”(association) | 0.350 |
| Mecom | ESYT2 | psi-mi:“MI:0914”(association) | 0.350 |
| ESR1 | ESYT2 | psi-mi:“MI:0914”(association) | 0.350 |
| CD177 | MYO1G | psi-mi:“MI:0914”(association) | 0.350 |
| NMES1 | NDUFS8 | psi-mi:“MI:0914”(association) | 0.350 |
| CHCHD10 | TIMM44 | psi-mi:“MI:0914”(association) | 0.350 |
| CISD3 | POLRMT | psi-mi:“MI:0914”(association) | 0.350 |
| COX6B1 | COX7A2L | psi-mi:“MI:0914”(association) | 0.350 |
| NDUFA4 | NUDT19 | psi-mi:“MI:0914”(association) | 0.350 |
| NDUFS3 | ACOT7 | psi-mi:“MI:0914”(association) | 0.350 |
| PTPMT1 | TIMM44 | psi-mi:“MI:0914”(association) | 0.350 |
| COX6B1 | NDUFS4 | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (134): COX7A2 (Affinity Capture-MS), COX7A2 (Affinity Capture-MS), COX7A2 (Affinity Capture-RNA), COX7A2 (Affinity Capture-MS), COX7A2 (Affinity Capture-MS), COX7A2 (Affinity Capture-MS), COX7A2 (Affinity Capture-MS), COX7A2 (Affinity Capture-MS), COX7A2 (Affinity Capture-MS), COX7A2 (Affinity Capture-MS), COX7A2 (Affinity Capture-MS), COX7A2 (Affinity Capture-MS), COX7A2 (Affinity Capture-MS), COX7A2 (Affinity Capture-MS), COX6B1 (Affinity Capture-MS)
ESM2 similar proteins: A1XQS2, A4IJ20, F6QZ15, O14548, O60397, P0CU26, P13183, P14406, P24310, P34660, P46269, P56392, Q0V9J0, Q17ED3, Q290M9, Q2KI08, Q2M2S2, Q3T061, Q4QQV3, Q4R6H1, Q4VC39, Q5R504, Q5RE99, Q5REP2, Q5XIJ4, Q5XKA2, Q5ZML6, Q61387, Q64445, Q7JX57, Q7QHP6, Q7SXI1, Q7Z4L0, Q8BGY7, Q8BTC1, Q91W29, Q91Y94, Q99KD6, Q9BUB7, Q9BVV7
Diamond homologs: O14548, O60397, P07470, P13184, P14406, P24310, P35171, P48771, P56392, Q08CE7, Q3T061, Q53CF6, Q61387, Q7SXI1, Q8SPJ9, Q99KD6, Q9N234, Q9TR29, Q9VHS2, Q9TR28, Q9TR30, Q9TRZ8, P80333
SIGNOR signaling
1 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| COX7A2 | “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 94 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 | 9 | 28.9× | 4e-09 |
| Cytoprotection by HMOX1 | 8 | 20.8× | 6e-07 |
| Respiratory electron transport | 12 | 16.1× | 4e-09 |
| TP53 Regulates Metabolic Genes | 7 | 12.8× | 1e-04 |
| Complex I biogenesis | 5 | 11.7× | 6e-03 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| mitochondrial electron transport, cytochrome c to oxygen | 8 | 73.8× | 7e-11 |
| cellular respiration | 6 | 31.2× | 2e-05 |
| mitochondrial electron transport, NADH to ubiquinone | 5 | 21.6× | 1e-03 |
| positive regulation of miRNA transcription | 5 | 17.5× | 2e-03 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
34 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 1 |
| Likely pathogenic | 0 |
| Uncertain significance | 20 |
| Likely benign | 3 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (1)
| Variant ID | HGVS | Classification |
|---|---|---|
| 625706 | GRCh37/hg19 6p22.1-q14.1(chr6:29455465-81447367) | Pathogenic |
SpliceAI
965 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 6:75240392:T:C | acceptor_gain | 1.0000 |
| 6:75237986:TTCC:T | acceptor_loss | 0.9900 |
| 6:75237987:TCC:T | acceptor_loss | 0.9900 |
| 6:75237988:CCT:C | acceptor_loss | 0.9900 |
| 6:75237989:C:CA | acceptor_loss | 0.9900 |
| 6:75237989:C:CC | acceptor_gain | 0.9900 |
| 6:75240258:CTA:C | donor_gain | 0.9900 |
| 6:75240259:TAT:T | donor_gain | 0.9900 |
| 6:75240294:GCCTT:G | donor_loss | 0.9900 |
| 6:75240295:CCTTA:C | donor_loss | 0.9900 |
| 6:75240296:CTTAC:C | donor_loss | 0.9900 |
| 6:75240297:TTA:T | donor_loss | 0.9900 |
| 6:75240298:T:TA | donor_loss | 0.9900 |
| 6:75240299:A:G | donor_loss | 0.9900 |
| 6:75240300:C:CT | donor_gain | 0.9900 |
| 6:75240300:C:T | donor_loss | 0.9900 |
| 6:75240300:CCA:C | donor_gain | 0.9900 |
| 6:75240381:TCCTC:T | acceptor_gain | 0.9900 |
| 6:75240382:CCTCC:C | acceptor_gain | 0.9900 |
| 6:75240384:TCCTA:T | acceptor_loss | 0.9900 |
| 6:75240386:C:CA | acceptor_loss | 0.9900 |
| 6:75240387:T:C | acceptor_loss | 0.9900 |
| 6:75240391:T:TC | acceptor_gain | 0.9900 |
| 6:75240392:T:TC | acceptor_gain | 0.9900 |
| 6:75241174:A:AG | donor_loss | 0.9900 |
| 6:75241175:CCT:C | donor_loss | 0.9900 |
| 6:75241176:C:G | donor_loss | 0.9900 |
| 6:75241263:AGCC:A | acceptor_loss | 0.9900 |
| 6:75241264:GCC:G | acceptor_loss | 0.9900 |
| 6:75241266:C:CC | acceptor_gain | 0.9900 |
AlphaMissense
0 scored. Top likely-pathogenic:
dbSNP variants (sampled 300 via entrez): RS1000423744 (6:75243162 T>A,C), RS1000610325 (6:75247761 C>A), RS1001183423 (6:75243657 C>A,T), RS1001350484 (6:75249974 A>T), RS1001418760 (6:75248430 C>G), RS1001470430 (6:75249807 G>A), RS1001671718 (6:75238068 T>C), RS1002114334 (6:75237303 AG>A), RS1002205914 (6:75237534 G>A), RS1002399741 (6:75248811 G>A), RS1002612316 (6:75251340 A>G), RS1002685119 (6:75249700 T>C), RS1002855318 (6:75244824 C>A,G), RS1003244002 (6:75245109 A>G), RS1003296108 (6:75244875 C>T)
Disease associations
OMIM: gene MIM:123996 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
0 associations (top):
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
44 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| sodium arsenite | affects cotreatment, decreases expression, increases expression | 4 |
| Acetaminophen | affects cotreatment, decreases expression, increases expression | 3 |
| bisphenol A | decreases expression | 2 |
| tris(2-butoxyethyl) phosphate | increases abundance, increases expression, decreases expression | 2 |
| Air Pollutants | decreases expression, increases abundance | 2 |
| Tretinoin | affects cotreatment, decreases expression, increases expression | 2 |
| Particulate Matter | increases abundance, decreases expression | 2 |
| dicrotophos | decreases expression | 1 |
| triphenyl phosphate | affects expression | 1 |
| O,O-diethyl O-3,5,6-trichloro-2-pyridyl phosphate | affects expression, affects response to substance | 1 |
| arsenite | affects binding, increases reaction | 1 |
| perfluorooctanoic acid | decreases expression | 1 |
| tris(chloroethyl)phosphate | decreases expression, increases abundance | 1 |
| arsenic trichloride | affects cotreatment, decreases expression, increases abundance | 1 |
| CD 437 | decreases expression | 1 |
| chloropicrin | affects expression | 1 |
| corosolic acid | 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 |
| ICG 001 | increases expression | 1 |
| bisphenol B | increases expression | 1 |
| LDN 193189 | affects cotreatment, decreases expression | 1 |
| bisphenol AF | increases expression | 1 |
| Sunitinib | decreases expression | 1 |
| Arsenic | decreases expression, increases abundance, affects cotreatment | 1 |
| Atrazine | decreases expression | 1 |
| Benzo(a)pyrene | affects methylation | 1 |
| Copper | decreases expression, increases abundance, affects cotreatment | 1 |
| Cyclophosphamide | decreases expression | 1 |
| Doxorubicin | affects expression | 1 |
Cellosaurus cell lines
1 cell lines: 1 transformed cell line
First 10 cell lines (id-ordered, not curated):
| Cellosaurus | Name | Category | Sex |
|---|---|---|---|
| CVCL_B2V2 | Abcam HEK293T COX7A2 KO | Transformed cell line | Female |
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.