COA7
gene geneOn this page
Also known as FLJ12439RESA1
Summary
COA7 (cytochrome c oxidase assembly factor 7, HGNC:25716) is a protein-coding gene on chromosome 1p32.3, encoding Cytochrome c oxidase assembly factor 7 (Q96BR5). Required for assembly of mitochondrial respiratory chain complex I and complex IV. It is a selective cancer dependency (DepMap: 42.1% of cell lines).
Enables protein-disulfide reductase activity. Involved in respiratory chain complex IV assembly. Located in mitochondrion and nucleoplasm. Is active in mitochondrial intermembrane space. Implicated in spinocerebellar ataxia with axonal neuropathy type 3.
Source: NCBI Gene 65260 — RefSeq curated summary.
At a glance
- Gene–disease (curated): mitochondrial disease (Definitive, ClinGen) — +1 more curated relationship
- Clinical variants (ClinVar): 80 total — 4 pathogenic, 6 likely-pathogenic
- Phenotypes (HPO): 23
- Cancer dependency (DepMap): dependent in 42.1% of screened cell lines
- MANE Select transcript:
NM_023077
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:25716 |
| Approved symbol | COA7 |
| Name | cytochrome c oxidase assembly factor 7 |
| Location | 1p32.3 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | FLJ12439, RESA1 |
| Ensembl gene | ENSG00000162377 |
| Ensembl biotype | protein_coding |
| OMIM | 615623 |
| Entrez | 65260 |
Gene structure
Transcript identifiers
Ensembl transcripts: 3 — 2 protein_coding, 1 protein_coding_CDS_not_defined
ENST00000371538, ENST00000486918, ENST00000939652
RefSeq mRNA: 1 — MANE Select: NM_023077
NM_023077
CCDS: CCDS570
Canonical transcript exons
ENST00000371538 — 3 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001455475 | 52684449 | 52688168 |
| ENSE00001455476 | 52698221 | 52698347 |
| ENSE00003657086 | 52692727 | 52692867 |
Expression profiles
Bgee: expression breadth ubiquitous, 262 present calls, max score 91.27.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 11.1649 / max 177.2784, expressed in 1770 samples.
FANTOM5 promoters (1 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 12373 | 11.1649 | 1770 |
Top tissues by expression
281 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| type B pancreatic cell | CL:0000169 | 91.27 | gold quality |
| olfactory bulb | UBERON:0002264 | 91.13 | gold quality |
| secondary oocyte | CL:0000655 | 89.76 | gold quality |
| cortical plate | UBERON:0005343 | 88.76 | gold quality |
| vastus lateralis | UBERON:0001379 | 88.15 | silver quality |
| quadriceps femoris | UBERON:0001377 | 87.27 | silver quality |
| skeletal muscle tissue of biceps brachii | UBERON:0004502 | 87.19 | gold quality |
| mucosa of sigmoid colon | UBERON:0004993 | 86.88 | gold quality |
| skeletal muscle tissue of rectus abdominis | UBERON:0004511 | 86.87 | gold quality |
| gastrocnemius | UBERON:0001388 | 86.41 | gold quality |
| colonic mucosa | UBERON:0000317 | 86.20 | gold quality |
| muscle organ | UBERON:0001630 | 86.03 | gold quality |
| biceps brachii | UBERON:0001507 | 85.89 | gold quality |
| muscle of leg | UBERON:0001383 | 85.76 | gold quality |
| skeletal muscle tissue | UBERON:0001134 | 85.72 | gold quality |
| gingival epithelium | UBERON:0001949 | 85.38 | silver quality |
| hindlimb stylopod muscle | UBERON:0004252 | 85.02 | gold quality |
| gingiva | UBERON:0001828 | 84.95 | gold quality |
| islet of Langerhans | UBERON:0000006 | 84.88 | gold quality |
| heart right ventricle | UBERON:0002080 | 84.34 | gold quality |
| muscle tissue | UBERON:0002385 | 84.03 | gold quality |
| cervix squamous epithelium | UBERON:0006922 | 83.64 | gold quality |
| primordial germ cell in gonad | CL:0000670 ∩ UBERON:0000991 | 83.58 | gold quality |
| prefrontal cortex | UBERON:0000451 | 83.29 | gold quality |
| diaphragm | UBERON:0001103 | 83.07 | silver quality |
| Brodmann (1909) area 23 | UBERON:0013554 | 82.89 | gold quality |
| body of tongue | UBERON:0011876 | 82.87 | gold quality |
| pons | UBERON:0000988 | 82.56 | gold quality |
| stromal cell of endometrium | CL:0002255 | 82.44 | gold quality |
| smooth muscle tissue | UBERON:0001135 | 82.11 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 3.35 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
51 targeting COA7, 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-513A-5P | 100.00 | 69.77 | 2465 |
| HSA-MIR-5692A | 100.00 | 74.40 | 6850 |
| HSA-MIR-27A-3P | 99.98 | 72.13 | 2955 |
| HSA-MIR-27B-3P | 99.98 | 72.13 | 2955 |
| HSA-MIR-9985 | 99.98 | 72.11 | 2939 |
| HSA-MIR-548AN | 99.97 | 70.91 | 2817 |
| HSA-MIR-9983-3P | 99.94 | 71.48 | 3631 |
| HSA-MIR-22-3P | 99.93 | 68.13 | 917 |
| HSA-MIR-335-3P | 99.93 | 73.36 | 4958 |
| HSA-MIR-1305 | 99.91 | 71.43 | 3443 |
| HSA-MIR-4731-5P | 99.89 | 67.23 | 2537 |
| HSA-MIR-548E-5P | 99.89 | 72.73 | 4486 |
| HSA-MIR-129-5P | 99.88 | 70.26 | 3273 |
| HSA-LET-7A-2-3P | 99.87 | 70.53 | 1921 |
| HSA-LET-7G-3P | 99.85 | 70.43 | 1929 |
| HSA-MIR-4728-5P | 99.85 | 69.39 | 4718 |
| HSA-MIR-6785-5P | 99.82 | 68.68 | 4428 |
| HSA-MIR-498-5P | 99.76 | 69.64 | 1807 |
| HSA-MIR-4677-5P | 99.70 | 70.09 | 1940 |
| HSA-MIR-4530 | 99.69 | 66.47 | 1509 |
| HSA-MIR-6757-3P | 99.63 | 66.88 | 1089 |
| HSA-MIR-508-5P | 99.41 | 64.25 | 1248 |
| HSA-MIR-584-3P | 99.35 | 67.69 | 1082 |
| HSA-MIR-542-3P | 99.34 | 67.58 | 1270 |
| HSA-MIR-1272 | 99.34 | 68.79 | 878 |
| HSA-MIR-2116-5P | 99.32 | 69.34 | 1273 |
| HSA-MIR-488-5P | 99.28 | 68.12 | 821 |
| HSA-MIR-5584-3P | 99.23 | 68.79 | 1351 |
| HSA-MIR-661 | 99.09 | 65.94 | 2062 |
| HSA-MIR-3619-5P | 99.00 | 68.87 | 2308 |
Functional genomics
DepMap (CRISPR cell-line fitness): dependent in 42.1% of screened cell lines.
Literature-anchored findings (GeneRIF, showing 6)
- C1orf163 is a novel factor important for the assembly of respiratory chain complexes in human mitochondria. (PMID:24333015)
- The first patient carrying pathogenic mutations of COA7, causative of isolated COX deficiency and progressive neurological impairment is reported. It is also shown that COA7 is a soluble protein localized to the matrix, rather than in the intermembrane space as previously suggested. (PMID:27683825)
- The results of this study suggest that loss-of-function COA7 mutation is responsible for the phenotype of the presented patients, and this new entity of disease would be referred to as spinocerebellar ataxia with axonal neuropathy type 3. (PMID:29718187)
- pathogenic mutant versions of COA7 are imported slower than the wild-type protein, and mislocalized proteins are degraded in the cytosol by the proteasome. (PMID:30885959)
- Mitochondrial COA7 is a heme-binding protein with disulfide reductase activity, which acts in the early stages of complex IV assembly. (PMID:35210360)
- Dystonia and Parkinsonism in COA7-related disorders: expanding the phenotypic spectrum. (PMID:37750949)
Cross-species orthologs
5 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | coa7 | ENSDARG00000019355 |
| mus_musculus | Coa7 | ENSMUSG00000048351 |
| rattus_norvegicus | Coa7 | ENSRNOG00000010636 |
| drosophila_melanogaster | Coa7 | FBGN0039965 |
| caenorhabditis_elegans | WBGENE00013925 |
Protein
Protein identifiers
Cytochrome c oxidase assembly factor 7 — Q96BR5 (reviewed: Q96BR5)
Alternative names: Beta-lactamase hcp-like protein, Respiratory chain assembly factor 1, Sel1 repeat-containing protein 1
All UniProt accessions (1): Q96BR5
UniProt curated annotations — full annotation on UniProt →
Function. Required for assembly of mitochondrial respiratory chain complex I and complex IV.
Subunit / interactions. Interacts with CHCHD4/MIA40 through transient intermolecular disulfide bonds.
Subcellular location. Mitochondrion intermembrane space.
Disease relevance. Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3 (SCAN3) [MIM:618387] A form of spinocerebellar ataxia, a clinically and genetically heterogeneous group of cerebellar disorders due to degeneration of the cerebellum with variable involvement of the brainstem and spinal cord. SCAN3 is an autosomal recessive disorder characterized by onset in the first decade of slowly progressive distal muscle weakness and atrophy and distal sensory impairment due to an axonal peripheral neuropathy. Affected individuals have gait disturbances and sometimes manual dexterity difficulties, as well as cerebellar ataxia associated with cerebellar atrophy on brain imaging. The disease is caused by variants affecting the gene represented in this entry.
Similarity. Belongs to the hcp beta-lactamase family.
RefSeq proteins (1): NP_075565* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR006597 | Sel1-like | Repeat |
| IPR011990 | TPR-like_helical_dom_sf | Homologous_superfamily |
| IPR040239 | HcpB-like | Family |
Pfam: PF08238
UniProt features (28 total): helix 12, sequence variant 5, repeat 5, initiator methionine 1, chain 1, sequence conflict 1, turn 1, strand 1, modified residue 1
Structure
Experimental structures (PDB)
1 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 7MQZ | X-RAY DIFFRACTION | 2.39 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q96BR5-F1 | 95.47 | 0.93 |
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): 2
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 143 (showing top):
RODRIGUES_THYROID_CARCINOMA_POORLY_DIFFERENTIATED_UP, GOBP_RESPIRATORY_CHAIN_COMPLEX_IV_ASSEMBLY, MAZ_Q6, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_DN, GRAESSMANN_RESPONSE_TO_MC_AND_DOXORUBICIN_DN, GOBP_MITOCHONDRIAL_RESPIRATORY_CHAIN_COMPLEX_ASSEMBLY, GOBP_CYTOCHROME_COMPLEX_ASSEMBLY, MODULE_301, GOCC_MITOCHONDRIAL_ENVELOPE, DODD_NASOPHARYNGEAL_CARCINOMA_UP, MODULE_188, HAMAI_APOPTOSIS_VIA_TRAIL_DN, SHEN_SMARCA2_TARGETS_DN, MARSON_BOUND_BY_FOXP3_STIMULATED, GOCC_ORGANELLE_ENVELOPE_LUMEN
GO Biological Process (1): respiratory chain complex IV assembly (GO:0008535)
GO Molecular Function (2): protein-disulfide reductase activity (GO:0015035), protein binding (GO:0005515)
GO Cellular Component (3): nucleoplasm (GO:0005654), mitochondrion (GO:0005739), mitochondrial intermembrane space (GO:0005758)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cytochrome complex assembly | 1 |
| disulfide oxidoreductase activity | 1 |
| catalytic activity, acting on a protein | 1 |
| binding | 1 |
| nuclear lumen | 1 |
| cellular anatomical structure | 1 |
| cytoplasm | 1 |
| intracellular membrane-bounded organelle | 1 |
| mitochondrial envelope | 1 |
| organelle envelope lumen | 1 |
Protein interactions and networks
STRING
1118 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| COA7 | COA6 | Q5JTJ3 | 603 |
| COA7 | COA5 | Q86WW8 | 602 |
| COA7 | COX17 | Q14061 | 598 |
| COA7 | COA4 | Q9NYJ1 | 598 |
| COA7 | SETX | Q7Z333 | 581 |
| COA7 | SAMM50 | Q9Y512 | 573 |
| COA7 | COX8A | P10176 | 557 |
| COA7 | SYVN1 | Q86TM6 | 551 |
| COA7 | CHCHD4 | Q8N4Q1 | 549 |
| COA7 | COX6B1 | P14854 | 536 |
| COA7 | ATP23 | Q9Y6H3 | 531 |
| COA7 | TIMM9 | Q9Y5J7 | 525 |
| COA7 | TIMM8A | O60220 | 522 |
| COA7 | SEL1L | Q9UBV2 | 498 |
| COA7 | TIMM10 | P62072 | 494 |
IntAct
141 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| RIN1 | NRAS | psi-mi:“MI:0914”(association) | 0.840 |
| B3GNT3 | PGRMC1 | psi-mi:“MI:0914”(association) | 0.670 |
| HSPB2 | BAG3 | psi-mi:“MI:0914”(association) | 0.670 |
| CRHBP | CCNB2 | psi-mi:“MI:0914”(association) | 0.640 |
| CHCHD4 | SSNA1 | psi-mi:“MI:0914”(association) | 0.640 |
| CRIPTO | AIP | psi-mi:“MI:0914”(association) | 0.640 |
| MPPED1 | CLUH | psi-mi:“MI:0914”(association) | 0.640 |
| PDK4 | PDK2 | psi-mi:“MI:0914”(association) | 0.640 |
| SNRPB | COA7 | psi-mi:“MI:0915”(physical association) | 0.560 |
| SUOX | COA7 | psi-mi:“MI:0915”(physical association) | 0.560 |
| COA7 | GPSM3 | psi-mi:“MI:0915”(physical association) | 0.560 |
| TLE5 | COA7 | psi-mi:“MI:0915”(physical association) | 0.560 |
| COA7 | ENKD1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| COA7 | CASP6 | psi-mi:“MI:0915”(physical association) | 0.560 |
| COA7 | DMWD | psi-mi:“MI:0915”(physical association) | 0.560 |
| COA7 | psi-mi:“MI:0915”(physical association) | 0.560 | |
| COA7 | FGFR3 | psi-mi:“MI:0915”(physical association) | 0.560 |
| COA7 | GSN | psi-mi:“MI:0915”(physical association) | 0.560 |
| COA7 | HMOX2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| COA7 | LAMP2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| COA7 | PMP22 | psi-mi:“MI:0915”(physical association) | 0.560 |
| COA7 | RAN | psi-mi:“MI:0915”(physical association) | 0.560 |
| COA7 | CYCS | psi-mi:“MI:0915”(physical association) | 0.560 |
| COA7 | PRPF40A | psi-mi:“MI:0915”(physical association) | 0.560 |
| COA7 | SPRED1 | psi-mi:“MI:0915”(physical association) | 0.560 |
BioGRID (141): COA7 (Affinity Capture-MS), COA7 (Co-fractionation), COA7 (Affinity Capture-MS), COA7 (Affinity Capture-MS), COA7 (Affinity Capture-MS), COA7 (Affinity Capture-MS), COA7 (Affinity Capture-MS), COA7 (Affinity Capture-MS), COA7 (Affinity Capture-MS), COA7 (Affinity Capture-MS), COA7 (Proximity Label-MS), COA7 (Proximity Label-MS), COA7 (Proximity Label-MS), COA7 (Proximity Label-MS), COA7 (Proximity Label-MS)
ESM2 similar proteins: A1CP31, A1D1Y5, A2QAQ3, A2QQE8, G5EEN4, J9VSG5, O42632, P0CQ16, P0CQ17, P17885, P23231, P36583, P46822, P87253, Q00078, Q01317, Q0D0A1, Q0UXL8, Q20168, Q2U0M4, Q2URJ0, Q338B9, Q4IQC1, Q4QR29, Q4WKB2, Q4WVF4, Q4WVG0, Q4X0I8, Q52DF3, Q5AZT7, Q5BD89, Q5BFB1, Q5BGN7, Q5BH69, Q5M7J9, Q5TYQ3, Q5ZIK9, Q62018, Q6DEU9, Q6INS3
Diamond homologs: Q0V9D9, Q23450, Q5FWY3, Q5TYQ3, Q66KY0, Q921H9, Q96BR5, Q9W5N0
SIGNOR signaling
0 interactions.
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 130 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 | 7 | 17.8× | 4e-05 |
| Cytoprotection by HMOX1 | 5 | 10.2× | 8e-03 |
| Mitochondrial protein degradation | 7 | 8.9× | 2e-03 |
| Respiratory electron transport | 8 | 8.5× | 9e-04 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
80 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 4 |
| Likely pathogenic | 6 |
| Uncertain significance | 34 |
| Likely benign | 29 |
| Benign | 7 |
Top pathogenic / likely-pathogenic (10)
| Variant ID | HGVS | Classification |
|---|---|---|
| 438350 | NM_023077.3(COA7):c.410A>G (p.Tyr137Cys) | Pathogenic |
| 438351 | NM_023077.3(COA7):c.247+1G>T | Pathogenic |
| 625459 | NM_023077.3(COA7):c.446G>T (p.Ser149Ile) | Pathogenic |
| 625461 | NM_023077.3(COA7):c.431del (p.Gly144fs) | Pathogenic |
| 1335810 | NM_023077.3(COA7):c.107-2A>G | Likely pathogenic |
| 2585171 | NM_023077.3(COA7):c.97del (p.Asp33fs) | Likely pathogenic |
| 4819770 | NM_023077.3(COA7):c.106+2T>G | Likely pathogenic |
| 625460 | NM_023077.3(COA7):c.17A>G (p.Asp6Gly) | Likely pathogenic |
| 806136 | NM_023077.3(COA7):c.574C>T (p.Arg192Cys) | Likely pathogenic |
| 806137 | NM_023077.3(COA7):c.540_550dup (p.Ile184fs) | Likely pathogenic |
SpliceAI
380 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 1:52692721:CCTTA:C | donor_loss | 1.0000 |
| 1:52692722:CTTA:C | donor_loss | 1.0000 |
| 1:52692723:TTACC:T | donor_loss | 1.0000 |
| 1:52692724:TA:T | donor_loss | 1.0000 |
| 1:52692725:A:AC | donor_gain | 1.0000 |
| 1:52692725:A:C | donor_loss | 1.0000 |
| 1:52692726:C:CC | donor_gain | 1.0000 |
| 1:52692863:GCAAC:G | acceptor_gain | 1.0000 |
| 1:52692864:CAAC:C | acceptor_gain | 1.0000 |
| 1:52692864:CAACC:C | acceptor_gain | 1.0000 |
| 1:52692865:AAC:A | acceptor_gain | 1.0000 |
| 1:52692866:ACCT:A | acceptor_loss | 1.0000 |
| 1:52692868:C:CC | acceptor_gain | 1.0000 |
| 1:52692868:CTG:C | acceptor_loss | 1.0000 |
| 1:52692869:T:C | acceptor_loss | 1.0000 |
| 1:52698180:C:A | donor_gain | 1.0000 |
| 1:52692725:AC:A | donor_gain | 0.9900 |
| 1:52692726:CC:C | donor_gain | 0.9900 |
| 1:52692726:CCTT:C | donor_gain | 0.9900 |
| 1:52692799:TCAAC:T | donor_gain | 0.9900 |
| 1:52692866:AC:A | acceptor_gain | 0.9900 |
| 1:52692867:CC:C | acceptor_gain | 0.9900 |
| 1:52692872:G:T | acceptor_gain | 0.9900 |
| 1:52698131:T:TA | donor_gain | 0.9900 |
| 1:52698216:CTCA:C | donor_loss | 0.9900 |
| 1:52698217:TCA:T | donor_loss | 0.9900 |
| 1:52698218:CA:C | donor_loss | 0.9900 |
| 1:52698219:A:AC | donor_gain | 0.9900 |
| 1:52698219:A:C | donor_loss | 0.9900 |
| 1:52698219:ACCGT:A | donor_gain | 0.9900 |
AlphaMissense
1547 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 1:52687969:A:C | S149R | 0.998 |
| 1:52687969:A:T | S149R | 0.998 |
| 1:52687971:T:G | S149R | 0.998 |
| 1:52687954:A:C | S154R | 0.997 |
| 1:52687954:A:T | S154R | 0.997 |
| 1:52687956:T:G | S154R | 0.997 |
| 1:52692764:G:C | S70R | 0.995 |
| 1:52692764:G:T | S70R | 0.995 |
| 1:52692766:T:G | S70R | 0.995 |
| 1:52692751:C:A | G75W | 0.993 |
| 1:52687958:A:G | L153P | 0.992 |
| 1:52687841:C:G | R192P | 0.991 |
| 1:52688072:C:T | G115D | 0.991 |
| 1:52687848:C:G | A190P | 0.990 |
| 1:52692750:C:T | G75E | 0.989 |
| 1:52687880:C:T | C179Y | 0.988 |
| 1:52687963:G:C | F151L | 0.988 |
| 1:52687963:G:T | F151L | 0.988 |
| 1:52687965:A:G | F151L | 0.988 |
| 1:52687843:A:C | S191R | 0.987 |
| 1:52687843:A:T | S191R | 0.987 |
| 1:52687845:T:G | S191R | 0.987 |
| 1:52687991:C:T | C142Y | 0.987 |
| 1:52688073:C:G | G115R | 0.987 |
| 1:52692751:C:G | G75R | 0.987 |
| 1:52692751:C:T | G75R | 0.987 |
| 1:52687797:C:G | A207P | 0.985 |
| 1:52687893:A:G | S175P | 0.984 |
| 1:52692791:G:C | N61K | 0.984 |
| 1:52692791:G:T | N61K | 0.984 |
dbSNP variants (sampled 300 via entrez): RS1000003548 (1:52693686 C>G,T), RS1000030772 (1:52684441 C>T), RS1000054882 (1:52694180 T>C,G), RS1000241546 (1:52687410 C>G), RS1000593398 (1:52687826 C>T), RS1000981086 (1:52689195 G>A), RS1001045285 (1:52692747 GC>G), RS1001090274 (1:52686282 C>G), RS1001192141 (1:52686621 G>C), RS1001574947 (1:52697586 T>A), RS1001852248 (1:52685244 TAA>T), RS1001893439 (1:52689208 T>G), RS1002286907 (1:52699186 G>T), RS1002577204 (1:52698920 A>G), RS1003023052 (1:52689927 T>A)
Disease associations
OMIM: gene MIM:615623 | disease phenotypes: MIM:618387
GenCC curated gene-disease
| Disease | Classification | Inheritance |
|---|---|---|
| spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3 | Strong | Autosomal recessive |
ClinGen Gene-Disease Validity (1)
Expert-panel classifications — Definitive > Strong > Moderate > Limited > Disputed > Refuted.
| Disease | Classification | Inheritance |
|---|---|---|
| mitochondrial disease | Definitive | AR |
Mondo (1): spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3 (MONDO:0020770)
Orphanet (0):
HPO phenotypes
23 total (23 of 23 shown, HPO-id order):
| HPO | Term |
|---|---|
| HP:0000007 | Autosomal recessive inheritance |
| HP:0001251 | Ataxia |
| HP:0001260 | Dysarthria |
| HP:0001263 | Global developmental delay |
| HP:0001265 | Hyporeflexia |
| HP:0001272 | Cerebellar atrophy |
| HP:0001310 | Dysmetria |
| HP:0001337 | Tremor |
| HP:0001761 | Pes cavus |
| HP:0001765 | Hammertoe |
| HP:0002066 | Gait ataxia |
| HP:0002352 | Leukoencephalopathy |
| HP:0002460 | Distal muscle weakness |
| HP:0002936 | Distal sensory impairment |
| HP:0003236 | Elevated circulating creatine kinase concentration |
| HP:0003376 | Steppage gait |
| HP:0003477 | Peripheral axonal neuropathy |
| HP:0003677 | Slowly progressive |
| HP:0003690 | Limb muscle weakness |
| HP:0003693 | Distal amyotrophy |
| HP:0009027 | Foot dorsiflexor weakness |
| HP:0011402 | Demyelinating sensory neuropathy |
| HP:0011463 | Childhood onset |
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
48 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| sodium arsenite | decreases expression, affects cotreatment, increases abundance, increases expression | 2 |
| (+)-JQ1 compound | decreases expression | 2 |
| Estradiol | increases expression | 2 |
| Ethyl Methanesulfonate | decreases expression | 2 |
| Methyl Methanesulfonate | decreases expression | 2 |
| Oxygen | decreases expression | 2 |
| aristolochic acid I | increases expression | 1 |
| 3-((6-(2-methoxyphenyl)pyrimidin-4-yl)amino)phenyl)methane sulfonamide | decreases expression | 1 |
| ginger extract | decreases reaction, increases abundance, increases expression | 1 |
| triphenyl phosphate | affects expression | 1 |
| bisphenol A | increases expression, decreases reaction, increases abundance | 1 |
| salinomycin | decreases expression | 1 |
| trichostatin A | affects expression | 1 |
| manganese chloride | affects cotreatment, increases abundance, increases expression | 1 |
| nivalenol | increases expression | 1 |
| di-n-butylphosphoric acid | affects expression | 1 |
| cylindrospermopsin | increases expression | 1 |
| corosolic acid | decreases expression | 1 |
| abrine | decreases expression | 1 |
| Resveratrol | affects cotreatment, increases expression | 1 |
| Temozolomide | increases expression | 1 |
| Sunitinib | decreases expression | 1 |
| Acetaminophen | decreases expression | 1 |
| Adenine | decreases expression | 1 |
| Arsenic | affects cotreatment, increases abundance, increases expression | 1 |
| Atrazine | decreases expression | 1 |
| Cisplatin | decreases expression | 1 |
| Colchicine | decreases expression | 1 |
| Dichlorodiphenyl Dichloroethylene | increases expression | 1 |
| Dimethyl Sulfoxide | increases expression | 1 |
Clinical trials (associated diseases)
0 trials via MONDO — disease-level, not drug-specific.
Related Atlas pages
- Associated diseases: spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3, mitochondrial disease
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3