COX17
gene geneOn this page
Summary
COX17 (cytochrome c oxidase copper chaperone COX17, HGNC:2264) is a protein-coding gene on chromosome 3q13.33, encoding Cytochrome c oxidase copper chaperone (Q14061). Copper metallochaperone involved in the assembly of cytochrome c oxidase (respiratory chain complex IV, CIV). It is a selective cancer dependency (DepMap: 86.7% 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 involved in the recruitment of copper to mitochondria for incorporation into the COX apoenzyme. This protein shares 92% amino acid sequence identity with mouse and rat Cox17 proteins. This gene is no longer considered to be a candidate gene for COX deficiency. A pseudogene COX17P has been found on chromosome 13.
Source: NCBI Gene 10063 — RefSeq curated summary.
At a glance
- GWAS associations: 2
- Clinical variants (ClinVar): 10 total
- Cancer dependency (DepMap): dependent in 86.7% of screened cell lines
- MANE Select transcript:
NM_005694
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:2264 |
| Approved symbol | COX17 |
| Name | cytochrome c oxidase copper chaperone COX17 |
| Location | 3q13.33 |
| Locus type | gene with protein product |
| Status | Approved |
| Ensembl gene | ENSG00000138495 |
| Ensembl biotype | protein_coding |
| OMIM | 604813 |
| Entrez | 10063 |
Gene structure
Transcript identifiers
Ensembl transcripts: 16 — 12 protein_coding, 3 nonsense_mediated_decay, 1 retained_intron
ENST00000261070, ENST00000468918, ENST00000484810, ENST00000486606, ENST00000490145, ENST00000497116, ENST00000497997, ENST00000896582, ENST00000896583, ENST00000896584, ENST00000896585, ENST00000911301, ENST00000911302, ENST00000911303, ENST00000911304, ENST00000958270
RefSeq mRNA: 3 — MANE Select: NM_005694
NM_001382002, NM_001382003, NM_005694
CCDS: CCDS2993, CCDS93345
Canonical transcript exons
ENST00000261070 — 3 exons
| Exon | Start | End |
|---|---|---|
| ENSE00000934178 | 119677204 | 119677406 |
| ENSE00001837763 | 119669532 | 119669665 |
| ENSE00003509729 | 119675145 | 119675233 |
Expression profiles
Bgee: expression breadth ubiquitous, 136 present calls, max score 99.19.
FANTOM5 (CAGE): breadth tissue_specific, TPM avg 0.2591 / max 54.2742, expressed in 112 samples.
FANTOM5 promoters (2 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 44035 | 62.3727 | 1824 |
| 44033 | 0.2591 | 112 |
Top tissues by expression
136 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| pituitary gland | UBERON:0000007 | 99.19 | gold quality |
| adenohypophysis | UBERON:0002196 | 99.11 | gold quality |
| heart left ventricle | UBERON:0002084 | 99.06 | gold quality |
| apex of heart | UBERON:0002098 | 99.02 | gold quality |
| right atrium auricular region | UBERON:0006631 | 99.02 | gold quality |
| left adrenal gland cortex | UBERON:0035825 | 99.00 | gold quality |
| left adrenal gland | UBERON:0001234 | 98.98 | gold quality |
| right adrenal gland | UBERON:0001233 | 98.97 | gold quality |
| gastrocnemius | UBERON:0001388 | 98.96 | gold quality |
| muscle of leg | UBERON:0001383 | 98.93 | gold quality |
| right adrenal gland cortex | UBERON:0035827 | 98.91 | gold quality |
| heart | UBERON:0000948 | 98.83 | gold quality |
| adrenal gland | UBERON:0002369 | 98.80 | gold quality |
| skeletal muscle tissue | UBERON:0001134 | 98.69 | gold quality |
| hindlimb stylopod muscle | UBERON:0004252 | 98.65 | gold quality |
| hypothalamus | UBERON:0001898 | 98.43 | gold quality |
| C1 segment of cervical spinal cord | UBERON:0006469 | 98.32 | gold quality |
| substantia nigra | UBERON:0002038 | 98.29 | gold quality |
| muscle tissue | UBERON:0002385 | 98.28 | gold quality |
| lower esophagus muscularis layer | UBERON:0035833 | 98.24 | gold quality |
| lower esophagus | UBERON:0013473 | 98.23 | gold quality |
| olfactory segment of nasal mucosa | UBERON:0005386 | 98.21 | gold quality |
| right lobe of liver | UBERON:0001114 | 98.19 | gold quality |
| fundus of stomach | UBERON:0001160 | 98.16 | gold quality |
| esophagogastric junction muscularis propria | UBERON:0035841 | 98.16 | gold quality |
| body of stomach | UBERON:0001161 | 98.14 | gold quality |
| mucosa of transverse colon | UBERON:0004991 | 98.14 | gold quality |
| calcaneal tendon | UBERON:0003701 | 98.11 | gold quality |
| Brodmann (1909) area 9 | UBERON:0013540 | 98.08 | gold quality |
| islet of Langerhans | UBERON:0000006 | 98.03 | gold quality |
Single-cell (SCXA)
Detected in 8 experiment(s), a significant marker in 6.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-HCAD-1 | yes | 18.21 |
| E-MTAB-6701 | yes | 16.75 |
| E-GEOD-135922 | yes | 8.24 |
| E-MTAB-7316 | yes | 8.11 |
| E-HCAD-10 | yes | 6.28 |
| E-CURD-10 | no | 359.44 |
| E-HCAD-31 | no | 21.97 |
| E-ANND-3 | no | 0.00 |
Regulation
Is transcription factor: no
Upstream regulators (CollecTRI, top): NFE2L2, NRF1, SP1
miRNA regulators (miRDB)
16 targeting COX17, 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-340-5P | 100.00 | 72.50 | 4437 |
| HSA-MIR-150-5P | 99.99 | 66.69 | 1976 |
| HSA-MIR-3692-3P | 99.98 | 70.27 | 2139 |
| HSA-MIR-4778-3P | 99.93 | 70.40 | 1818 |
| HSA-MIR-95-5P | 99.89 | 72.17 | 3973 |
| HSA-MIR-3133 | 99.81 | 70.92 | 3506 |
| HSA-MIR-4659A-3P | 99.80 | 72.62 | 4248 |
| HSA-MIR-4659B-3P | 99.80 | 72.62 | 4248 |
| HSA-MIR-141-5P | 99.57 | 67.86 | 897 |
| HSA-MIR-12123 | 99.52 | 71.79 | 2990 |
| HSA-MIR-377-3P | 99.37 | 70.18 | 1905 |
| HSA-MIR-3973 | 99.20 | 69.19 | 1990 |
| HSA-MIR-628-3P | 99.04 | 68.37 | 814 |
| HSA-MIR-520G-3P | 98.91 | 67.38 | 1914 |
| HSA-MIR-520H | 98.91 | 67.38 | 1914 |
| HSA-MIR-1298-5P | 95.96 | 64.81 | 573 |
Functional genomics
DepMap (CRISPR cell-line fitness): dependent in 86.7% of screened cell lines.
Literature-anchored findings (GeneRIF, showing 14)
- Data imply that up-regulation of COX17 function and increased cytochrome c oxidase activity are frequent features of lung carcinogenesis. (PMID:14612491)
- The binding of copper to Cox17 is needed to activate cytochrome c oxidase by Cox17. (PMID:15504366)
- Cox17-mediated copper metallation of Sco1, as well as the subsequent failure of Cu(A) site maturation, is the basis for the inefficient assembly of the cytochrome c oxidase complex in SCO1 patients (PMID:16520371)
- Cox17 was studied with regard to its expression, purification, and formation of mixed disulfide adducts with sulfhydryl reagents. (PMID:17208454)
- XAS (X-ray absorption spectroscopy) determined that Cu4Cox17 contains a Cu4S6-type copper-thiolate cluster, which may provide safe storage of an excess of copper ions (PMID:17672825)
- Cu(I)HCox17(2S-S), i.e., the copper-loaded form of the protein, can transfer simultaneously copper(I) and two electrons to the human cochaperone Sco1 (HSco1) in the oxidized state, i.e., with its metal-binding cysteines forming a disulfide bond. (PMID:18458339)
- the absence of Cox17 interferes with copper delivery to Cox2, but not to Cox1. (PMID:19393246)
- Functional role of two interhelical disulfide bonds in human Cox17 protein from a structural perspective. (PMID:21816817)
- CTR1 silencing increased the protein levels of copper chaperone ATOX1 and copper chaperone for superoxide dismutase 1 (CCS-1), but decreased copper chaperone for cytochrome c oxidase (COX17). (PMID:24343031)
- Data suggest that Cox17 enhances the reactivity of some platinum/organoplatinum antineoplastic drugs but suppresses the reactivity of at least one platinum antineoplastic drug; glutathione modulates binding of platinum/organoplatinum drugs to Cox17. (PMID:26399480)
- Data show that the redox state of cytochrome c oxidase assembly protein 17 (Cox17), mitochondrial membrane transport protein Mia40 and superoxide dismutase 1 (SOD1) in the cytoplasm were directly observed with in-cell NMR spectroscopy. (PMID:26589182)
- In addition to Atox1, the human cytoplasm also contains Cu chaperones for loading of superoxide dismutase 1 (i.e. CCS) and cytochrome c oxidase in mitochondria (i.e. Cox17). [review] (PMID:26745464)
- These results collectively indicate that Cox17 might not participate in the action of these anticancer organoruthenium complexes, and further verify the distinct anticancer mechanism of the organoruthenium(II) complexes from cisplatin. (PMID:27235272)
- characterize the disorder-to-order transition of a Mia40 substrate, the human small copper chaperone Cox17 (PMID:29208936)
Cross-species orthologs
2 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| mus_musculus | Cox17 | ENSMUSG00000046516 |
| rattus_norvegicus | Cox17 | ENSRNOG00000076347 |
Protein
Protein identifiers
Cytochrome c oxidase copper chaperone — Q14061 (reviewed: Q14061)
All UniProt accessions (4): Q14061, C9J8T6, H7C4E5, H7C5P5
UniProt curated annotations — full annotation on UniProt →
Function. Copper metallochaperone involved in the assembly of cytochrome c oxidase (respiratory chain complex IV, CIV). Binds two copper ions and delivers them to metallochaperones SCO1 and SCO2, which co-chaperone the copper ions to the Cu(A) site on the cytochrome c oxidase subunit II (MT-CO2/COX2), and to metallochaperone COX11 which relays the copper to the Cu(B) site on the cytochrome c oxidase subunit I (MT-CO1/COX1).
Subunit / interactions. Interacts with COA1. Interacts with the chaperone CHCHD4; this is important for correct folding and the formation of disulfide bonds that stabilize the structure.
Subcellular location. Mitochondrion intermembrane space. Cytoplasm.
Tissue specificity. Ubiquitous.
Post-translational modifications. Acetylation by KAT8 promotes assembly of the mitochondrial respiratory chain complex IV (CIV).
Similarity. Belongs to the COX17 family.
RefSeq proteins (3): NP_001368931, NP_001368932, NP_005685* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR007745 | Cyt_c_oxidase_Cu-chaperone | Family |
| IPR009069 | Cys_alpha_HP_mot_SF | Homologous_superfamily |
Pfam: PF05051
UniProt features (17 total): modified residue 3, helix 3, disulfide bond 2, short sequence motif 2, binding site 2, initiator methionine 1, chain 1, strand 1, domain 1, region of interest 1
Structure
Experimental structures (PDB)
4 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 2L0Y | SOLUTION NMR | |
| 2LGQ | SOLUTION NMR | |
| 2RN9 | SOLUTION NMR | |
| 2RNB | SOLUTION NMR |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q14061-F1 | 72.62 | 0.07 |
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): 23; 24
Post-translational modifications (3): 30, 14, 18
Disulfide bonds (2): 26–55, 36–45
Function
Pathways and Gene Ontology
Reactome pathways
2 pathways
| ID | Pathway |
|---|---|
| R-HSA-1268020 | Mitochondrial protein import |
| R-HSA-9864848 | Complex IV assembly |
MSigDB gene sets: 246 (showing top):
GSE37336_LY6C_POS_VS_NEG_NAIVE_CD4_TCELL_UP, YAO_TEMPORAL_RESPONSE_TO_PROGESTERONE_CLUSTER_10, WANG_CLIM2_TARGETS_UP, GOBP_RESPIRATORY_CHAIN_COMPLEX_IV_ASSEMBLY, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_DN, GRAESSMANN_RESPONSE_TO_MC_AND_DOXORUBICIN_DN, GOBP_MITOCHONDRIAL_RESPIRATORY_CHAIN_COMPLEX_ASSEMBLY, GOBP_CYTOCHROME_COMPLEX_ASSEMBLY, MORF_PPP6C, GOCC_MITOCHONDRIAL_ENVELOPE, TIEN_INTESTINE_PROBIOTICS_24HR_UP, RYTTCCTG_ETS2_B, WONG_MITOCHONDRIA_GENE_MODULE, BURTON_ADIPOGENESIS_5, ZHAN_VARIABLE_EARLY_DIFFERENTIATION_GENES_DN
GO Biological Process (6): heart development (GO:0007507), mitochondrial respiratory chain complex IV assembly (GO:0033617), generation of precursor metabolites and energy (GO:0006091), copper ion transport (GO:0006825), positive regulation of cell population proliferation (GO:0008284), positive regulation of cytochrome-c oxidase activity (GO:1904960)
GO Molecular Function (6): copper ion binding (GO:0005507), enzyme activator activity (GO:0008047), copper chaperone activity (GO:0016531), cuprous ion binding (GO:1903136), protein binding (GO:0005515), metal ion binding (GO:0046872)
GO Cellular Component (3): cytoplasm (GO:0005737), mitochondrion (GO:0005739), mitochondrial intermembrane space (GO:0005758)
Reactome top-level categories
Rollup of top-2 pathways:
| Category | Pathways |
|---|---|
| Protein localization | 1 |
| Respiratory electron transport | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| copper ion binding | 2 |
| animal organ development | 1 |
| circulatory system development | 1 |
| mitochondrion | 1 |
| respiratory chain complex IV assembly | 1 |
| mitochondrial respiratory chain complex assembly | 1 |
| metabolic process | 1 |
| transition metal ion transport | 1 |
| cell population proliferation | 1 |
| regulation of cell population proliferation | 1 |
| positive regulation of cellular process | 1 |
| cytochrome-c oxidase activity | 1 |
| positive regulation of ion transmembrane transporter activity | 1 |
| positive regulation of oxidoreductase activity | 1 |
| regulation of cytochrome-c oxidase activity | 1 |
| transition metal ion binding | 1 |
| catalytic activity | 1 |
| enzyme regulator activity | 1 |
| molecular function activator activity | 1 |
| metallochaperone activity | 1 |
| binding | 1 |
| cation binding | 1 |
| intracellular anatomical structure | 1 |
| cellular anatomical structure | 1 |
| cytoplasm | 1 |
| intracellular membrane-bounded organelle | 1 |
| mitochondrial envelope | 1 |
| organelle envelope lumen | 1 |
Protein interactions and networks
STRING
1374 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| COX17 | SCO1 | O75880 | 989 |
| COX17 | COX19 | Q49B96 | 975 |
| COX17 | SCO2 | O43819 | 965 |
| COX17 | ATOX1 | O00244 | 945 |
| COX17 | COX11 | Q9Y6N1 | 935 |
| COX17 | CHCHD4 | Q8N4Q1 | 904 |
| COX17 | MT-CO2 | P00403 | 894 |
| COX17 | CCS | O14618 | 811 |
| COX17 | SURF1 | Q15526 | 808 |
| COX17 | ATP7A | Q04656 | 775 |
| COX17 | ATP7B | P35670 | 773 |
| COX17 | SLC31A1 | O15431 | 770 |
| COX17 | COX10 | Q12887 | 762 |
| COX17 | COA6 | Q5JTJ3 | 760 |
| COX17 | SLC31A2 | O15432 | 756 |
IntAct
39 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| KATNAL1 | COX17 | psi-mi:“MI:0915”(physical association) | 0.670 |
| COX17 | KATNAL1 | psi-mi:“MI:0915”(physical association) | 0.670 |
| SCO1 | COX17 | psi-mi:“MI:0407”(direct interaction) | 0.660 |
| CHCHD4 | COX17 | psi-mi:“MI:0945”(oxidoreductase activity electron transfer reaction) | 0.560 |
| CHCHD4 | COX17 | psi-mi:“MI:0407”(direct interaction) | 0.560 |
| KRTAP10-8 | COX17 | psi-mi:“MI:0915”(physical association) | 0.560 |
| COX17 | SPRED1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| COX17 | SCO2 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| MIA40 | COX17 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| HADHB | COX17 | psi-mi:“MI:0915”(physical association) | 0.370 |
| CAPZB | ENAH | psi-mi:“MI:0914”(association) | 0.350 |
| COX17 | SUOX | psi-mi:“MI:0914”(association) | 0.350 |
| P/V | ESYT2 | psi-mi:“MI:0914”(association) | 0.350 |
| AIFM1 | NUDT19 | psi-mi:“MI:2364”(proximity) | 0.270 |
| COX14 | NUDT19 | psi-mi:“MI:2364”(proximity) | 0.270 |
| PLGRKT | HAX1 | psi-mi:“MI:2364”(proximity) | 0.270 |
| SCO1 | HAX1 | psi-mi:“MI:2364”(proximity) | 0.270 |
| SFXN1 | HAX1 | psi-mi:“MI:2364”(proximity) | 0.270 |
| CFTR | UBA6 | psi-mi:“MI:2364”(proximity) | 0.270 |
| HNRNPC | SBNO1 | psi-mi:“MI:2364”(proximity) | 0.270 |
| LARP7 | SBNO1 | psi-mi:“MI:2364”(proximity) | 0.270 |
| QKI | SMCHD1 | psi-mi:“MI:2364”(proximity) | 0.270 |
| COX17 | KRTAP10-8 | psi-mi:“MI:0915”(physical association) | 0.000 |
| COX17 | UNC119 | psi-mi:“MI:0915”(physical association) | 0.000 |
BioGRID (75): KATNAL1 (Two-hybrid), KATNAL1 (Two-hybrid), COX17 (Co-fractionation), COX17 (Co-fractionation), COX17 (Co-fractionation), COX17 (Co-fractionation), COX17 (Co-fractionation), COX17 (Co-fractionation), COX17 (Co-fractionation), MIF (Co-fractionation), SCYL2 (Co-fractionation), TALDO1 (Co-fractionation), TBCA (Co-fractionation), COX17 (Affinity Capture-MS), COX17 (Proximity Label-MS)
ESM2 similar proteins: A0A182IRF8, A0NAZ8, A5DUN2, B0WII7, B0Y310, C4Y2J3, C4YIM0, C5DJK6, C7GRF7, O42932, O45346, O94030, P0C1D2, P0CM68, P0CM69, P34415, P56394, P81045, Q12287, Q14061, Q16LW2, Q2KHZ4, Q2USJ2, Q4P8D2, Q4R3D4, Q4WES5, Q54ID0, Q59PR9, Q5BJN5, Q5TXN1, Q63ZK1, Q6DEI8, Q6J3Q7, Q6NU12, Q6PBC3, Q717R8, Q757A5, Q7PF80, Q7S3S2, Q86BW2
Diamond homologs: P56394, P81045, Q14061, Q54ID0, Q6J3Q7, Q94FT1, Q9LJQ9, Q9P7Z7, Q12287
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
10 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 9 |
| Likely benign | 0 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
1171 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 3:119659928:CTTAC:C | donor_loss | 1.0000 |
| 3:119659929:TTA:T | donor_loss | 1.0000 |
| 3:119659930:TAC:T | donor_loss | 1.0000 |
| 3:119659931:A:AT | donor_loss | 1.0000 |
| 3:119659931:ACCGG:A | donor_gain | 1.0000 |
| 3:119659932:C:CT | donor_loss | 1.0000 |
| 3:119659932:CCGGC:C | donor_gain | 1.0000 |
| 3:119660731:T:TA | donor_gain | 1.0000 |
| 3:119675139:GCTTA:G | donor_loss | 1.0000 |
| 3:119675140:CTTAC:C | donor_loss | 1.0000 |
| 3:119675141:TTA:T | donor_loss | 1.0000 |
| 3:119675142:TACCA:T | donor_loss | 1.0000 |
| 3:119675143:A:AG | donor_loss | 1.0000 |
| 3:119675229:TGATA:T | acceptor_gain | 1.0000 |
| 3:119675230:GATA:G | acceptor_gain | 1.0000 |
| 3:119675232:TA:T | acceptor_gain | 1.0000 |
| 3:119675233:AC:A | acceptor_loss | 1.0000 |
| 3:119675234:C:CC | acceptor_gain | 1.0000 |
| 3:119659931:A:AC | donor_gain | 0.9900 |
| 3:119659932:C:CC | donor_gain | 0.9900 |
| 3:119659932:CCGG:C | donor_gain | 0.9900 |
| 3:119660693:G:C | donor_gain | 0.9900 |
| 3:119660708:T:A | donor_gain | 0.9900 |
| 3:119660709:C:CA | donor_gain | 0.9900 |
| 3:119675138:AGCTT:A | donor_loss | 0.9900 |
| 3:119675231:ATA:A | acceptor_gain | 0.9900 |
| 3:119676856:A:C | donor_gain | 0.9900 |
| 3:119677198:A:AC | donor_gain | 0.9900 |
| 3:119677199:C:CC | donor_gain | 0.9900 |
| 3:119660732:C:A | donor_gain | 0.9800 |
AlphaMissense
407 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 3:119677214:G:T | R33S | 1.000 |
| 3:119677221:C:A | K30N | 1.000 |
| 3:119677221:C:G | K30N | 1.000 |
| 3:119675158:A:C | F61L | 0.999 |
| 3:119675158:A:T | F61L | 0.999 |
| 3:119675159:A:G | F61S | 0.999 |
| 3:119675160:A:G | F61L | 0.999 |
| 3:119675162:C:T | G60E | 0.999 |
| 3:119675174:A:G | M56T | 0.999 |
| 3:119675187:G:C | H52D | 0.999 |
| 3:119675207:C:A | C45F | 0.999 |
| 3:119675207:C:T | C45Y | 0.999 |
| 3:119677210:T:A | D34V | 0.999 |
| 3:119677211:C:G | D34H | 0.999 |
| 3:119677214:G:A | R33C | 0.999 |
| 3:119677235:A:G | C26R | 0.999 |
| 3:119677240:C:T | C24Y | 0.999 |
| 3:119677241:A:G | C24R | 0.999 |
| 3:119677244:A:G | C23R | 0.999 |
| 3:119675162:C:A | G60V | 0.998 |
| 3:119675163:C:G | G60R | 0.998 |
| 3:119675163:C:T | G60R | 0.998 |
| 3:119675177:C:G | C55S | 0.998 |
| 3:119675178:A:G | C55R | 0.998 |
| 3:119675178:A:T | C55S | 0.998 |
| 3:119675187:G:T | H52N | 0.998 |
| 3:119675206:A:C | C45W | 0.998 |
| 3:119675207:C:G | C45S | 0.998 |
| 3:119675208:A:G | C45R | 0.998 |
| 3:119675208:A:T | C45S | 0.998 |
dbSNP variants (sampled 300 via entrez): RS1000189096 (3:119674172 C>T), RS1000262514 (3:119667761 G>A), RS1000444989 (3:119674061 C>A,T), RS1001170133 (3:119664373 C>T), RS1001309176 (3:119673480 A>C,G), RS1001372683 (3:119663953 GAAAA>G,GAAAAA), RS1001404745 (3:119670739 T>C), RS1001532863 (3:119668716 G>A), RS1002199209 (3:119668467 A>G), RS1002329006 (3:119673313 C>T), RS1002375334 (3:119669360 G>A), RS1002580923 (3:119678230 A>G), RS1002814942 (3:119669021 TAA>T), RS1002840493 (3:119665681 A>C), RS1002993785 (3:119675700 C>A,T)
Disease associations
OMIM: gene MIM:604813 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
2 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST011624_5 | Tau burden | 3.000000e-07 |
| GCST011624_6 | Tau burden | 3.000000e-07 |
EFO canonical traits (1, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0004760 | t-tau measurement |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
51 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| sodium arsenite | decreases expression, increases abundance, increases expression, affects cotreatment | 4 |
| potassium chromate(VI) | affects cotreatment, decreases expression | 2 |
| Benzo(a)pyrene | affects cotreatment, increases expression, affects methylation, decreases reaction | 2 |
| Copper | affects transport, affects localization | 2 |
| Doxorubicin | affects response to substance, increases expression | 2 |
| dicrotophos | decreases expression | 1 |
| propionaldehyde | increases methylation | 1 |
| bisphenol A | decreases expression | 1 |
| lead acetate | increases expression | 1 |
| nonanal | increases methylation | 1 |
| n-hexanal | increases methylation | 1 |
| 4-(N-methyl-N-nitrosamino)-1-(3-pyridyl)-1-butanone | increases expression, decreases reaction, affects cotreatment | 1 |
| zinc chloride | decreases expression | 1 |
| butyraldehyde | increases methylation | 1 |
| tetrathiomolybdate | decreases expression | 1 |
| caprylic aldehyde | increases methylation | 1 |
| tetraethylenepentamine | decreases expression | 1 |
| beta-methylcholine | affects expression | 1 |
| epigallocatechin gallate | decreases expression, affects cotreatment | 1 |
| pentanal | increases methylation | 1 |
| heptanal | increases methylation | 1 |
| chromium hexavalent ion | decreases expression | 1 |
| cuprous sulfide | increases expression | 1 |
| chloropicrin | increases expression | 1 |
| K 7174 | decreases expression | 1 |
| 2-(1H-indazol-4-yl)-6-(4-methanesulfonylpiperazin-1-ylmethyl)-4-morpholin-4-ylthieno(3,2-d)pyrimidine | decreases expression, increases response to substance | 1 |
| Oxaliplatin | affects response to substance | 1 |
| Sunitinib | increases expression | 1 |
| Zoledronic Acid | decreases expression | 1 |
| Acetaminophen | increases expression | 1 |
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.