CHCHD6
gene geneOn this page
Also known as MGC13016PPP1R23CHCM1Mic25MICOS25
Summary
CHCHD6 (coiled-coil-helix-coiled-coil-helix domain containing 6, HGNC:28184) is a protein-coding gene on chromosome 3q21.3, encoding MICOS complex subunit MIC25 (Q9BRQ6). Component of the MICOS complex, a large protein complex of the mitochondrial inner membrane that plays crucial roles in the maintenance of crista junctions, inner membrane architecture, and formation of contact sites to the outer membrane.
Involved in DNA damage response and cristae formation. Located in cytosol and mitochondrial inner membrane. Part of MICOS complex.
Source: NCBI Gene 84303 — RefSeq curated summary.
At a glance
- GWAS associations: 4
- Clinical variants (ClinVar): 52 total
- Druggable target: yes
- MANE Select transcript:
NM_032343
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:28184 |
| Approved symbol | CHCHD6 |
| Name | coiled-coil-helix-coiled-coil-helix domain containing 6 |
| Location | 3q21.3 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | MGC13016, PPP1R23, CHCM1, Mic25, MICOS25 |
| Ensembl gene | ENSG00000159685 |
| Ensembl biotype | protein_coding |
| OMIM | 615634 |
| Entrez | 84303 |
Gene structure
Transcript identifiers
Ensembl transcripts: 12 — 7 protein_coding, 4 protein_coding_CDS_not_defined, 1 nonsense_mediated_decay
ENST00000290913, ENST00000503119, ENST00000504973, ENST00000508789, ENST00000510044, ENST00000513253, ENST00000514908, ENST00000515867, ENST00000870585, ENST00000870586, ENST00000921880, ENST00000921881
RefSeq mRNA: 2 — MANE Select: NM_032343
NM_001320610, NM_032343
CCDS: CCDS3041
Canonical transcript exons
ENST00000290913 — 8 exons
| Exon | Start | End |
|---|---|---|
| ENSE00002077922 | 126704240 | 126704399 |
| ENSE00003468511 | 126733078 | 126733222 |
| ENSE00003474275 | 126852647 | 126852730 |
| ENSE00003475348 | 126914680 | 126914750 |
| ENSE00003501376 | 126730561 | 126730630 |
| ENSE00003523464 | 126960196 | 126960420 |
| ENSE00003572878 | 126957416 | 126957551 |
| ENSE00003595543 | 126727078 | 126727186 |
Expression profiles
Bgee: expression breadth ubiquitous, 211 present calls, max score 94.76.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 12.8329 / max 108.1893, expressed in 1764 samples.
FANTOM5 promoters (9 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 38362 | 11.5035 | 1742 |
| 38366 | 0.7032 | 102 |
| 38367 | 0.2423 | 79 |
| 38368 | 0.0901 | 48 |
| 38365 | 0.0794 | 45 |
| 38369 | 0.0773 | 46 |
| 202916 | 0.0695 | 43 |
| 38371 | 0.0343 | 14 |
| 38370 | 0.0333 | 17 |
Top tissues by expression
249 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| left testis | UBERON:0004533 | 94.76 | gold quality |
| right testis | UBERON:0004534 | 94.32 | gold quality |
| cortical plate | UBERON:0005343 | 94.27 | gold quality |
| prefrontal cortex | UBERON:0000451 | 94.12 | gold quality |
| anterior cingulate cortex | UBERON:0009835 | 94.02 | gold quality |
| right frontal lobe | UBERON:0002810 | 93.11 | gold quality |
| Brodmann (1909) area 9 | UBERON:0013540 | 92.86 | gold quality |
| testis | UBERON:0000473 | 92.84 | gold quality |
| dorsolateral prefrontal cortex | UBERON:0009834 | 92.09 | gold quality |
| amygdala | UBERON:0001876 | 91.58 | gold quality |
| neocortex | UBERON:0001950 | 91.57 | gold quality |
| frontal cortex | UBERON:0001870 | 91.53 | gold quality |
| nucleus accumbens | UBERON:0001882 | 91.21 | gold quality |
| hypothalamus | UBERON:0001898 | 90.67 | gold quality |
| Ammon’s horn | UBERON:0001954 | 90.63 | gold quality |
| cerebral cortex | UBERON:0000956 | 90.60 | gold quality |
| sural nerve | UBERON:0015488 | 89.87 | gold quality |
| caudate nucleus | UBERON:0001873 | 89.69 | gold quality |
| forebrain | UBERON:0001890 | 89.20 | gold quality |
| putamen | UBERON:0001874 | 89.19 | gold quality |
| C1 segment of cervical spinal cord | UBERON:0006469 | 88.86 | gold quality |
| ganglionic eminence | UBERON:0004023 | 88.58 | gold quality |
| brain | UBERON:0000955 | 88.26 | gold quality |
| olfactory segment of nasal mucosa | UBERON:0005386 | 87.98 | gold quality |
| tibial nerve | UBERON:0001323 | 87.83 | gold quality |
| right uterine tube | UBERON:0001302 | 87.61 | gold quality |
| substantia nigra | UBERON:0002038 | 87.35 | gold quality |
| spinal cord | UBERON:0002240 | 87.01 | gold quality |
| temporal lobe | UBERON:0001871 | 86.99 | gold quality |
| male germ line stem cell (sensu Vertebrata) in testis | CL:0000089 ∩ UBERON:0000473 | 86.43 | gold quality |
Single-cell (SCXA)
Detected in 3 experiment(s), a significant marker in 3.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-GEOD-135922 | yes | 25.32 |
| E-MTAB-8142 | yes | 18.52 |
| E-ANND-3 | no | 0.00 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
11 targeting CHCHD6, 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-570-3P | 99.96 | 72.41 | 4910 |
| HSA-MIR-6716-5P | 99.56 | 68.62 | 1244 |
| HSA-MIR-1207-5P | 99.49 | 69.11 | 2983 |
| HSA-MIR-1324 | 99.46 | 66.57 | 1302 |
| HSA-MIR-4685-5P | 99.25 | 65.99 | 1563 |
| HSA-MIR-6837-5P | 99.25 | 65.47 | 1632 |
| HSA-MIR-4763-3P | 99.10 | 67.83 | 2649 |
| HSA-MIR-5006-5P | 98.79 | 66.92 | 1246 |
| HSA-MIR-4686 | 98.77 | 66.87 | 964 |
| HSA-MIR-5088-3P | 98.29 | 66.63 | 1310 |
| HSA-MIR-6890-3P | 97.50 | 65.71 | 997 |
Literature-anchored findings (GeneRIF, showing 4)
- anti-mitofilin mAb immunocaptures its target protein in association with six other proteins, metaxins 1 and 2, SAM50, CHCHD3, CHCHD6 and DnaJC11, respectively (PMID:17624330)
- CHCM1/CHCHD6, novel mitochondrial protein linked to regulation of mitofilin and mitochondrial cristae morphology. (PMID:22228767)
- mitochondria exhibited lower cristae density in CHCHD6-knockout cells. CHCHD6 directly interacted with Sam50. (PMID:26530328)
- A CHCHD6-APP axis connects amyloid and mitochondrial pathology in Alzheimer’s disease. (PMID:36104602)
Cross-species orthologs
5 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | chchd6a | ENSDARG00000003206 |
| danio_rerio | chchd6b | ENSDARG00000045978 |
| mus_musculus | Chchd6 | ENSMUSG00000030086 |
| rattus_norvegicus | Chchd6 | ENSRNOG00000060248 |
| caenorhabditis_elegans | WBGENE00010942 |
Paralogs (1): CHCHD3 (ENSG00000106554)
Protein
Protein identifiers
MICOS complex subunit MIC25 — Q9BRQ6 (reviewed: Q9BRQ6)
Alternative names: Coiled-coil-helix cristae morphology protein 1, Coiled-coil-helix-coiled-coil-helix domain-containing protein 6
All UniProt accessions (4): Q9BRQ6, H0Y922, J3QTA6, J3QTB2
UniProt curated annotations — full annotation on UniProt →
Function. Component of the MICOS complex, a large protein complex of the mitochondrial inner membrane that plays crucial roles in the maintenance of crista junctions, inner membrane architecture, and formation of contact sites to the outer membrane.
Subunit / interactions. Component of the mitochondrial contact site and cristae organizing system (MICOS) complex, composed of at least MICOS10/MIC10, CHCHD3/MIC19, CHCHD6/MIC25, APOOL/MIC27, IMMT/MIC60, APOO/MIC23/MIC26 and MICOS13/MIC13. This complex was also known under the names MINOS or MitOS complex. The MICOS complex associates with mitochondrial outer membrane proteins SAMM50, MTX1 and MTX2 (together described as components of the mitochondrial outer membrane sorting assembly machinery (SAM) complex) and DNAJC11, mitochondrial inner membrane protein TMEM11 and with HSPA9. The MICOS and SAM complexes together with DNAJC11 are part of a large protein complex spanning both membranes termed the mitochondrial intermembrane space bridging (MIB) complex. Interacts with DISC1. Interacts with DISC1. Interacts with IMMT/MIC60. (Microbial infection) Interacts with human cytomegalovirus protein UL37 isoform vMIA; this interaction rewires mitochondria by engaging the conserved MICOS complex.
Subcellular location. Mitochondrion inner membrane. Mitochondrion.
Induction. Down-regulated following genotoxic stress.
Similarity. Belongs to the MICOS complex subunit Mic19 family. Metazoan Mic25 subfamily.
RefSeq proteins (2): NP_001307539, NP_115719* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR007964 | MIC19/MIC25 | Family |
| IPR042860 | MIC25 | Family |
Pfam: PF05300
UniProt features (14 total): disulfide bond 2, region of interest 2, short sequence motif 2, modified residue 2, initiator methionine 1, chain 1, lipid moiety-binding region 1, sequence variant 1, domain 1, coiled-coil region 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q9BRQ6-F1 | 80.29 | 0.50 |
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 (3): 2, 13, 31
Disulfide bonds (2): 197–228, 207–218
Function
Pathways and Gene Ontology
Reactome pathways
3 pathways
| ID | Pathway |
|---|---|
| R-HSA-8949613 | Cristae formation |
| R-HSA-1592230 | Mitochondrial biogenesis |
| R-HSA-1852241 | Organelle biogenesis and maintenance |
MSigDB gene sets: 94 (showing top):
GSE18804_BRAIN_VS_COLON_TUMORAL_MACROPHAGE_UP, GOBP_CRISTAE_FORMATION, GOBP_INNER_MITOCHONDRIAL_MEMBRANE_ORGANIZATION, MODULE_256, MODULE_480, GOBP_DNA_DAMAGE_RESPONSE, GOCC_MITOCHONDRIAL_ENVELOPE, chr3q21, GOBP_MEMBRANE_ORGANIZATION, MODULE_333, MODULE_427, BOYLAN_MULTIPLE_MYELOMA_C_D_UP, GOCC_ORGANELLE_MEMBRANE_CONTACT_SITE, GOCC_OUTER_MITOCHONDRIAL_MEMBRANE_PROTEIN_COMPLEX, GOCC_ORGANELLE_INNER_MEMBRANE
GO Biological Process (3): DNA damage response (GO:0006974), inner mitochondrial membrane organization (GO:0007007), cristae formation (GO:0042407)
GO Molecular Function (1): protein binding (GO:0005515)
GO Cellular Component (8): SAM complex (GO:0001401), mitochondrion (GO:0005739), mitochondrial inner membrane (GO:0005743), cytosol (GO:0005829), mitochondrial crista junction (GO:0044284), MICOS complex (GO:0061617), MIB complex (GO:0140275), membrane (GO:0016020)
Reactome top-level categories
Rollup of top-2 pathways:
| Category | Pathways |
|---|---|
| Mitochondrial biogenesis | 1 |
| Organelle biogenesis and maintenance | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cytoplasm | 2 |
| cellular anatomical structure | 2 |
| inner mitochondrial membrane protein complex | 2 |
| cellular response to stress | 1 |
| mitochondrial membrane organization | 1 |
| inner mitochondrial membrane organization | 1 |
| binding | 1 |
| mitochondrial outer membrane translocase complex | 1 |
| intracellular membrane-bounded organelle | 1 |
| organelle inner membrane | 1 |
| mitochondrial membrane | 1 |
| mitochondrial inner membrane | 1 |
| organelle membrane contact site | 1 |
Protein interactions and networks
STRING
688 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| CHCHD6 | IMMT | Q16891 | 994 |
| CHCHD6 | APOOL | Q6UXV4 | 993 |
| CHCHD6 | APOO | Q9BUR5 | 993 |
| CHCHD6 | CHCHD3 | Q9NX63 | 983 |
| CHCHD6 | MICOS10 | Q5TGZ0 | 982 |
| CHCHD6 | MICOS13 | Q5XKP0 | 982 |
| CHCHD6 | CHCHD5 | Q9BSY4 | 830 |
| CHCHD6 | MTX1 | Q13505 | 827 |
| CHCHD6 | SAMM50 | Q9Y512 | 822 |
| CHCHD6 | MTX2 | O75431 | 770 |
| CHCHD6 | CHCHD10 | Q8WYQ3 | 757 |
| CHCHD6 | DNAJC11 | Q9NVH1 | 705 |
| CHCHD6 | MTX3 | Q5HYI7 | 513 |
| CHCHD6 | TIMM22 | Q9Y584 | 462 |
| CHCHD6 | TOMM40 | O96008 | 451 |
IntAct
102 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| IMMT | MTX2 | psi-mi:“MI:0914”(association) | 0.730 |
| CTDSP1 | CTDSPL | psi-mi:“MI:0914”(association) | 0.640 |
| NIPAL1 | ESYT2 | psi-mi:“MI:0914”(association) | 0.640 |
| SLC1A1 | AGPAT2 | psi-mi:“MI:0914”(association) | 0.640 |
| CHCHD10 | IMMT | psi-mi:“MI:0915”(physical association) | 0.600 |
| CHCHD3 | CHCHD6 | psi-mi:“MI:0915”(physical association) | 0.560 |
| CHCHD6 | SAMM50 | psi-mi:“MI:0915”(physical association) | 0.560 |
| CLEC5A | TSPAN6 | psi-mi:“MI:0914”(association) | 0.530 |
| APOOL | MTX2 | psi-mi:“MI:0914”(association) | 0.530 |
| APLNR | METTL15 | psi-mi:“MI:0914”(association) | 0.530 |
| SLC22A16 | APBA3 | psi-mi:“MI:0914”(association) | 0.530 |
| TRAK2 | OGT | psi-mi:“MI:0914”(association) | 0.530 |
| TRAK1 | MTX2 | psi-mi:“MI:0914”(association) | 0.530 |
| CHCHD6 | CHCHD10 | psi-mi:“MI:2364”(proximity) | 0.470 |
| CHCHD6 | PPP1CA | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| HTRA2 | HAX1 | psi-mi:“MI:2364”(proximity) | 0.420 |
| Erh | BCLAF3 | psi-mi:“MI:0915”(physical association) | 0.400 |
| CHCHD6 | ZER1 | psi-mi:“MI:0915”(physical association) | 0.400 |
| Bmpr1a | PLEKHG3 | psi-mi:“MI:0914”(association) | 0.350 |
| Tnpo1 | CCHCR1 | psi-mi:“MI:0914”(association) | 0.350 |
| Rmdn3 | DERL1 | psi-mi:“MI:0914”(association) | 0.350 |
| RAB7A | psi-mi:“MI:0914”(association) | 0.350 | |
| Aifm1 | HMGB1 | psi-mi:“MI:0914”(association) | 0.350 |
| MTX2 | psi-mi:“MI:0914”(association) | 0.350 | |
| Mtx2 | NRDC | psi-mi:“MI:0914”(association) | 0.350 |
| Tmed2 | psi-mi:“MI:0914”(association) | 0.350 | |
| VAPA | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (109): CHCHD6 (Affinity Capture-MS), CHCHD2 (Co-fractionation), NDUFA8 (Co-fractionation), CHCHD6 (Affinity Capture-MS), CHCHD6 (Affinity Capture-MS), CHCHD6 (Affinity Capture-MS), CHCHD6 (Affinity Capture-MS), CHCHD6 (Affinity Capture-MS), CHCHD6 (Affinity Capture-MS), CHCHD6 (Affinity Capture-MS), CHCHD6 (Affinity Capture-MS), CHCHD6 (Affinity Capture-MS), CHCHD6 (Affinity Capture-MS), CHCHD6 (Affinity Capture-MS), CHCHD6 (Affinity Capture-MS)
ESM2 similar proteins: A1A4P9, A4QNG1, B1WB06, B8JLV7, F4HVW5, F4IRM4, F4J264, F4JTI1, K7TQE3, O48781, O65573, O80462, O81893, O82387, Q0IY07, Q0WPN7, Q3EBL9, Q3KPR1, Q3ZBK3, Q5BK13, Q5M7V7, Q5M856, Q5MK23, Q5MK24, Q5RHZ2, Q6BDI9, Q6E7H0, Q7X6P3, Q7ZYB4, Q84JN1, Q84M47, Q84WF5, Q8IYF3, Q8L7N4, Q8LBH4, Q8RXH2, Q8S9J3, Q8W032, Q8W4F0, Q94BM7
Diamond homologs: D4A7N1, Q32L35, Q5FVV3, Q5U509, Q63ZW2, Q6AX41, Q91VN4, Q9BRQ6, Q9CRB9, Q5E9D3, Q9NX63
SIGNOR signaling
0 interactions.
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 121 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 |
|---|---|---|---|
| Cristae formation | 6 | 30.5× | 1e-05 |
| Mitochondrial biogenesis | 7 | 17.3× | 2e-05 |
| Organelle biogenesis and maintenance | 7 | 6.8× | 6e-03 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| cristae formation | 6 | 60.2× | 2e-07 |
| inner mitochondrial membrane organization | 7 | 56.2× | 2e-08 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
52 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 39 |
| Likely benign | 6 |
| Benign | 1 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
2803 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 3:126704367:G:GT | donor_gain | 1.0000 |
| 3:126704398:GG:G | donor_gain | 1.0000 |
| 3:126704399:GG:G | donor_gain | 1.0000 |
| 3:126727067:T:TA | acceptor_gain | 1.0000 |
| 3:126727073:CTTA:C | acceptor_loss | 1.0000 |
| 3:126727075:TAGCT:T | acceptor_loss | 1.0000 |
| 3:126727076:A:AG | acceptor_gain | 1.0000 |
| 3:126727076:AG:A | acceptor_loss | 1.0000 |
| 3:126727076:AGCT:A | acceptor_gain | 1.0000 |
| 3:126727077:G:GT | acceptor_gain | 1.0000 |
| 3:126727077:GC:G | acceptor_gain | 1.0000 |
| 3:126727077:GCT:G | acceptor_gain | 1.0000 |
| 3:126727077:GCTG:G | acceptor_gain | 1.0000 |
| 3:126727077:GCTGT:G | acceptor_gain | 1.0000 |
| 3:126727182:CAAAG:C | donor_loss | 1.0000 |
| 3:126727183:AAAGG:A | donor_loss | 1.0000 |
| 3:126727184:AAGGT:A | donor_loss | 1.0000 |
| 3:126727187:G:GA | donor_loss | 1.0000 |
| 3:126727188:T:G | donor_loss | 1.0000 |
| 3:126730559:A:AG | acceptor_gain | 1.0000 |
| 3:126730560:G:GA | acceptor_gain | 1.0000 |
| 3:126730628:GAG:G | donor_gain | 1.0000 |
| 3:126733074:A:AG | acceptor_gain | 1.0000 |
| 3:126733074:ACAG:A | acceptor_gain | 1.0000 |
| 3:126733075:C:G | acceptor_gain | 1.0000 |
| 3:126733075:CA:C | acceptor_loss | 1.0000 |
| 3:126733076:A:AC | acceptor_loss | 1.0000 |
| 3:126733076:AG:A | acceptor_gain | 1.0000 |
| 3:126733077:GG:G | acceptor_gain | 1.0000 |
| 3:126733077:GGT:G | acceptor_gain | 1.0000 |
AlphaMissense
1527 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 3:126957522:T:G | Y225D | 0.992 |
| 3:126727103:T:C | M38T | 0.991 |
| 3:126704352:T:C | F14L | 0.990 |
| 3:126704354:C:A | F14L | 0.990 |
| 3:126704354:C:G | F14L | 0.990 |
| 3:126957501:T:A | C218S | 0.990 |
| 3:126957502:G:C | C218S | 0.990 |
| 3:126957438:T:C | C197R | 0.987 |
| 3:126957438:T:A | C197S | 0.986 |
| 3:126957439:G:C | C197S | 0.986 |
| 3:126957501:T:C | C218R | 0.986 |
| 3:126957460:T:C | I204T | 0.984 |
| 3:126727079:T:A | L30Q | 0.983 |
| 3:126914722:G:C | A180P | 0.982 |
| 3:126957503:C:G | C218W | 0.982 |
| 3:126704391:G:C | G27R | 0.981 |
| 3:126957440:C:G | C197W | 0.981 |
| 3:126957439:G:A | C197Y | 0.980 |
| 3:126957502:G:A | C218Y | 0.980 |
| 3:126957522:T:A | Y225N | 0.980 |
| 3:126914713:T:C | F177L | 0.979 |
| 3:126914714:T:C | F177S | 0.979 |
| 3:126914715:C:A | F177L | 0.979 |
| 3:126914715:C:G | F177L | 0.979 |
| 3:126957460:T:G | I204S | 0.978 |
| 3:126957468:T:A | C207S | 0.977 |
| 3:126957468:T:C | C207R | 0.977 |
| 3:126957469:G:C | C207S | 0.977 |
| 3:126914725:G:C | A181P | 0.975 |
| 3:126957470:C:G | C207W | 0.975 |
dbSNP variants (sampled 300 via entrez): RS1000020815 (3:126938955 T>C), RS1000030632 (3:126814623 A>G), RS1000047658 (3:126914761 G>A,T), RS1000070554 (3:126940752 C>T), RS1000090400 (3:126741248 G>A,T), RS1000094687 (3:126787720 T>A), RS1000103595 (3:126768463 A>AT), RS1000118480 (3:126934018 C>CT), RS1000121440 (3:126741055 A>C,T), RS1000122579 (3:126952357 C>T), RS1000128477 (3:126891895 G>A), RS1000137788 (3:126768175 A>G,T), RS1000163286 (3:126738173 G>T), RS1000189835 (3:126909140 G>A,T), RS1000208348 (3:126801955 G>A,C)
Disease associations
OMIM: gene MIM:615634 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
4 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST004860_115 | Alcoholic chronic pancreatitis | 4.000000e-06 |
| GCST004860_138 | Alcoholic chronic pancreatitis | 2.000000e-06 |
| GCST008545_2 | Diabetic maculopathy with decreased visual acuity in type 2 diabetes | 7.000000e-07 |
| GCST011011_27 | Youthful appearance (self-reported) | 1.000000e-51 |
EFO canonical traits (2, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0008385 | visual acuity measurement |
| EFO:0010133 | diabetic maculopathy |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: yes
ChEMBL targets (1): CHEMBL4105993 (SINGLE PROTEIN)
PharmGKB: 1 entry (VIP=true, CPIC=false)
ChEMBL bioactivities
2 potent at pChembl≥5 of 2 total, top 2 by pChembl (potency: 10 = 0.1 nM, 6 = 1 µM).
| pChembl | Type | Value | Unit | Molecule |
|---|---|---|---|---|
| 7.24 | Kd | 57.61 | nM | CHEMBL5653589 |
| 7.24 | ED50 | 57.61 | nM | CHEMBL5653589 |
PubChem BioAssay actives
1 with measured affinity, of 4 total; 1 most potent distinct compounds. Largely complementary to BindingDB; screening values are coarse (µM, 4 dp), so sub-nM hits tie at the floor.
| Compound | Assay | Type | Value | Unit |
|---|---|---|---|---|
| 4-methyl-3-[(2-methyl-6-pyridin-3-ylpyrazolo[3,4-d]pyrimidin-4-yl)amino]-N-[3-(trifluoromethyl)phenyl]benzamide | 2148066: Binding affinity to human CHCHD6 incubated for 45 mins by Kinobead based pull down assay | kd | 0.0576 | uM |
CTD chemical–gene interactions
30 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Benzo(a)pyrene | affects methylation, decreases expression, decreases methylation | 4 |
| Cisplatin | affects cotreatment, decreases expression | 3 |
| Valproic Acid | affects expression, decreases methylation | 2 |
| aristolochic acid I | decreases expression | 1 |
| alpha-pinene | increases oxidation, increases abundance, affects cotreatment | 1 |
| bisphenol A | affects cotreatment, decreases methylation | 1 |
| mono-(2-ethylhexyl)phthalate | decreases expression | 1 |
| sodium arsenite | decreases expression | 1 |
| benzo(e)pyrene | increases methylation | 1 |
| aflatoxin B2 | increases methylation | 1 |
| methacrylaldehyde | affects cotreatment, increases oxidation, increases abundance | 1 |
| CGP 52608 | affects binding, increases reaction | 1 |
| jinfukang | affects cotreatment, decreases expression | 1 |
| Temozolomide | decreases expression | 1 |
| Pioglitazone | decreases expression | 1 |
| Fulvestrant | decreases methylation, affects cotreatment | 1 |
| Acrolein | affects cotreatment, increases oxidation, increases abundance | 1 |
| Air Pollutants | increases abundance, increases oxidation, affects cotreatment | 1 |
| Hydrogen Peroxide | affects expression | 1 |
| Lead | affects expression | 1 |
| Methapyrilene | increases methylation | 1 |
| Mustard Gas | decreases expression | 1 |
| Ozone | affects cotreatment, increases oxidation, increases abundance | 1 |
| Tobacco Smoke Pollution | decreases expression | 1 |
| Urethane | decreases expression | 1 |
| Cyclosporine | increases expression | 1 |
| Aflatoxin B1 | increases methylation | 1 |
| Okadaic Acid | decreases expression | 1 |
| beta-Naphthoflavone | decreases expression | 1 |
| Volatile Organic Compounds | affects cotreatment, increases oxidation | 1 |
ChEMBL screening assays
2 unique, capped per target: 2 binding
Representative assays (with source publication via chembl_document):
| Assay ID | Type | Description | Source paper |
|---|---|---|---|
| CHEMBL4012555 | Binding | Binding affinity to MICOS complex subunit MIC25 in human INA-6 cells after 3 hrs by nanoLC-MS/MS method | Ugi Reaction-Derived α-Acyl Aminocarboxamides Bind to Phosphatidylinositol 3-Kinase-Related Kinases, Inhibit HSF1-Dependent Heat Shock Response, and Induce Apoptosis in Multiple Myeloma Cells. — J Med Chem |
Cellosaurus cell lines
3 cell lines: 2 cancer cell line, 1 transformed cell line
First 10 cell lines (id-ordered, not curated):
| Cellosaurus | Name | Category | Sex |
|---|---|---|---|
| CVCL_B2UA | Abcam HEK293T CHCHD6 KO | Transformed cell line | Female |
| CVCL_SI83 | HAP1 CHCHD6 (-) 1 | Cancer cell line | Male |
| CVCL_SI84 | HAP1 CHCHD6 (-) 2 | Cancer cell line | Male |
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.