ACSS3
gene geneOn this page
Also known as FLJ21963
Summary
ACSS3 (acyl-CoA synthetase short chain family member 3, HGNC:24723) is a protein-coding gene on chromosome 12q21.31, encoding Acyl-CoA synthetase short-chain family member 3, mitochondrial (Q9H6R3). Catalyzes the synthesis of acetyl-CoA from short-chain fatty acids.
Enables propionate-CoA ligase activity. Predicted to be involved in ketone body biosynthetic process. Located in mitochondrial matrix.
Source: NCBI Gene 79611 — RefSeq curated summary.
At a glance
- GWAS associations: 10
- Clinical variants (ClinVar): 123 total — 5 pathogenic, 1 likely-pathogenic
- MANE Select transcript:
NM_024560
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:24723 |
| Approved symbol | ACSS3 |
| Name | acyl-CoA synthetase short chain family member 3 |
| Location | 12q21.31 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | FLJ21963 |
| Ensembl gene | ENSG00000111058 |
| Ensembl biotype | protein_coding |
| OMIM | 614356 |
| Entrez | 79611 |
Gene structure
Transcript identifiers
Ensembl transcripts: 16 — 9 protein_coding, 3 retained_intron, 3 protein_coding_CDS_not_defined, 1 nonsense_mediated_decay
ENST00000261206, ENST00000546664, ENST00000548058, ENST00000548324, ENST00000548387, ENST00000549175, ENST00000551745, ENST00000616449, ENST00000650935, ENST00000651903, ENST00000903501, ENST00000903502, ENST00000903503, ENST00000965759, ENST00000965760, ENST00000965761
RefSeq mRNA: 3 — MANE Select: NM_024560
NM_001330242, NM_001330243, NM_024560
CCDS: CCDS81716, CCDS9022
Canonical transcript exons
ENST00000548058 — 16 exons
| Exon | Start | End |
|---|---|---|
| ENSE00000752686 | 81143107 | 81143247 |
| ENSE00000752687 | 81151844 | 81151924 |
| ENSE00000937078 | 81134816 | 81135004 |
| ENSE00002358894 | 81254857 | 81261210 |
| ENSE00002376408 | 81078079 | 81078431 |
| ENSE00003471176 | 81216901 | 81216996 |
| ENSE00003527509 | 81139131 | 81139265 |
| ENSE00003685099 | 81109560 | 81109704 |
| ENSE00003712258 | 81253495 | 81253670 |
| ENSE00003715269 | 81220013 | 81220076 |
| ENSE00003721399 | 81199341 | 81199444 |
| ENSE00003725784 | 81253307 | 81253406 |
| ENSE00003732405 | 81152001 | 81152096 |
| ENSE00003733943 | 81231057 | 81231138 |
| ENSE00003736576 | 81174788 | 81174939 |
| ENSE00003744043 | 81233349 | 81233471 |
Expression profiles
Bgee: expression breadth ubiquitous, 228 present calls, max score 91.39.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 7.5505 / max 326.8916, expressed in 1043 samples.
FANTOM5 promoters (4 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 127126 | 4.8097 | 926 |
| 127125 | 2.1637 | 827 |
| 127124 | 0.4873 | 328 |
| 127123 | 0.0898 | 35 |
Top tissues by expression
272 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| germinal epithelium of ovary | UBERON:0001304 | 91.39 | gold quality |
| parotid gland | UBERON:0001831 | 90.96 | gold quality |
| liver | UBERON:0002107 | 89.93 | gold quality |
| calcaneal tendon | UBERON:0003701 | 89.35 | gold quality |
| corpus epididymis | UBERON:0004359 | 89.17 | gold quality |
| left adrenal gland | UBERON:0001234 | 89.05 | gold quality |
| right lobe of liver | UBERON:0001114 | 89.03 | gold quality |
| caput epididymis | UBERON:0004358 | 88.73 | gold quality |
| right adrenal gland cortex | UBERON:0035827 | 88.59 | gold quality |
| left adrenal gland cortex | UBERON:0035825 | 88.41 | gold quality |
| right adrenal gland | UBERON:0001233 | 88.31 | gold quality |
| adrenal cortex | UBERON:0001235 | 87.66 | gold quality |
| sural nerve | UBERON:0015488 | 87.55 | gold quality |
| adrenal gland | UBERON:0002369 | 87.03 | gold quality |
| left ovary | UBERON:0002119 | 86.88 | gold quality |
| stromal cell of endometrium | CL:0002255 | 86.50 | gold quality |
| tibial nerve | UBERON:0001323 | 85.97 | gold quality |
| subcutaneous adipose tissue | UBERON:0002190 | 85.93 | gold quality |
| adipose tissue | UBERON:0001013 | 85.85 | gold quality |
| right atrium auricular region | UBERON:0006631 | 85.50 | gold quality |
| ovary | UBERON:0000992 | 85.26 | gold quality |
| right ovary | UBERON:0002118 | 85.02 | gold quality |
| heart left ventricle | UBERON:0002084 | 84.99 | gold quality |
| connective tissue | UBERON:0002384 | 84.86 | gold quality |
| gall bladder | UBERON:0002110 | 84.77 | gold quality |
| cardiac ventricle | UBERON:0002082 | 84.53 | gold quality |
| apex of heart | UBERON:0002098 | 84.43 | gold quality |
| parietal pleura | UBERON:0002400 | 84.30 | gold quality |
| cardiac atrium | UBERON:0002081 | 84.02 | gold quality |
| adult mammalian kidney | UBERON:0000082 | 83.70 | gold quality |
Single-cell (SCXA)
Detected in 3 experiment(s), a significant marker in 2.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 11.88 |
| E-MTAB-9388 | yes | 11.10 |
| E-GEOD-124858 | no | 89.08 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
56 targeting ACSS3, 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-5692A | 100.00 | 74.40 | 6850 |
| HSA-MIR-186-5P | 99.99 | 70.83 | 3707 |
| HSA-MIR-371B-5P | 99.99 | 75.34 | 4759 |
| HSA-MIR-4282 | 99.99 | 75.36 | 6408 |
| HSA-MIR-373-5P | 99.98 | 75.36 | 4753 |
| HSA-MIR-616-5P | 99.98 | 75.58 | 4775 |
| HSA-MIR-6888-3P | 99.97 | 65.95 | 1170 |
| HSA-MIR-6778-3P | 99.96 | 67.29 | 2693 |
| HSA-MIR-1250-3P | 99.96 | 70.04 | 4038 |
| HSA-MIR-551B-5P | 99.96 | 71.28 | 3493 |
| HSA-MIR-23A-3P | 99.95 | 74.24 | 3163 |
| HSA-MIR-23B-3P | 99.95 | 74.24 | 3163 |
| HSA-MIR-23C | 99.95 | 73.92 | 3192 |
| HSA-MIR-450B-5P | 99.92 | 71.48 | 3175 |
| HSA-MIR-124-3P | 99.89 | 73.74 | 3043 |
| HSA-MIR-506-3P | 99.89 | 73.55 | 3057 |
| HSA-MIR-153-5P | 99.89 | 73.86 | 6317 |
| HSA-MIR-6780A-5P | 99.88 | 66.69 | 2776 |
| HSA-MIR-1323 | 99.83 | 69.89 | 2471 |
| HSA-MIR-6715A-3P | 99.83 | 68.05 | 1473 |
| HSA-MIR-4760-5P | 99.80 | 69.88 | 1619 |
| HSA-MIR-2052 | 99.79 | 69.37 | 2031 |
| HSA-MIR-1273H-5P | 99.77 | 66.32 | 2471 |
| HSA-MIR-548O-3P | 99.74 | 69.30 | 2228 |
| HSA-MIR-4255 | 99.72 | 67.70 | 1541 |
| HSA-MIR-30B-3P | 99.70 | 65.76 | 2325 |
| HSA-MIR-3689A-3P | 99.70 | 65.73 | 2306 |
| HSA-MIR-3689B-3P | 99.70 | 65.71 | 2311 |
| HSA-MIR-3689C | 99.70 | 65.71 | 2311 |
| HSA-MIR-6779-5P | 99.70 | 65.76 | 2363 |
Literature-anchored findings (GeneRIF, showing 4)
- This report is the first to indicate ACSS3 as a biomarker of GCa prognosis and that targeting ACSS3 in GCa patients might be therapeutically valuable. (PMID:29493120)
- ACSS3 represses prostate cancer progression through downregulating lipid droplet-associated protein PLIN3. (PMID:33391508)
- Genome-wide assessment reveals a significant association between ACSS3 and physical activity. (PMID:36510703)
- ACSS3 regulates the metabolic homeostasis of epithelial cells and alleviates pulmonary fibrosis. (PMID:37979225)
Cross-species orthologs
4 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | acss3 | ENSDARG00000032218 |
| mus_musculus | Acss3 | ENSMUSG00000035948 |
| rattus_norvegicus | Acss3 | ENSRNOG00000004448 |
| drosophila_melanogaster | CG6432 | FBGN0039184 |
Paralogs (13): ACSM3 (ENSG00000005187), ACSM2B (ENSG00000066813), AACS (ENSG00000081760), ACSS2 (ENSG00000131069), ACSS1 (ENSG00000154930), AASDH (ENSG00000157426), ACSM1 (ENSG00000166743), ACSF2 (ENSG00000167107), ACSM6 (ENSG00000173124), ACSF3 (ENSG00000176715), ACSM5 (ENSG00000183549), ACSM2A (ENSG00000183747), ACSM4 (ENSG00000215009)
Protein
Protein identifiers
Acyl-CoA synthetase short-chain family member 3, mitochondrial — Q9H6R3 (reviewed: Q9H6R3)
Alternative names: Acetate–CoA ligase 3, Acyl-CoA synthetase short-chain family member 3, Propionate–CoA ligase
All UniProt accessions (4): A0A0B4J1R2, Q9H6R3, F8VZB4, H0YII9
UniProt curated annotations — full annotation on UniProt →
Function. Catalyzes the synthesis of acetyl-CoA from short-chain fatty acids. Propionate is the preferred substrate. Can utilize acetate and butyrate with a much lower affinity.
Subcellular location. Mitochondrion matrix.
Similarity. Belongs to the ATP-dependent AMP-binding enzyme family.
Isoforms (2)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q9H6R3-1 | 1 | yes |
| Q9H6R3-2 | 2 |
RefSeq proteins (3): NP_001317171, NP_001317172, NP_078836* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR000873 | AMP-dep_synth/lig_dom | Domain |
| IPR020845 | AMP-binding_CS | Conserved_site |
| IPR025110 | AMP-bd_C | Domain |
| IPR032387 | ACAS_N | Domain |
| IPR042099 | ANL_N_sf | Homologous_superfamily |
| IPR045851 | AMP-b_sf | Homologous_superfamily |
Pfam: PF00501, PF13193, PF16177
Catalyzed reactions (Rhea), 3 shown:
- propanoate + ATP + CoA = propanoyl-CoA + AMP + diphosphate (RHEA:20373)
- acetate + ATP + CoA = acetyl-CoA + AMP + diphosphate (RHEA:23176)
- butanoate + ATP + CoA = butanoyl-CoA + AMP + diphosphate (RHEA:46172)
UniProt features (13 total): binding site 7, modified residue 2, transit peptide 1, chain 1, splice variant 1, sequence conflict 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q9H6R3-F1 | 87.93 | 0.71 |
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 (7): 227–230; 425–427; 446–451; 539; 554; 565; 624
Post-translational modifications (2): 524, 518
Function
Pathways and Gene Ontology
Reactome pathways
10 pathways
| ID | Pathway |
|---|---|
| R-HSA-77111 | Synthesis of Ketone Bodies |
| R-HSA-9841922 | MLL4 and MLL3 complexes regulate expression of PPARG target genes in adipogenesis and hepatic steatosis |
| R-HSA-1430728 | Metabolism |
| R-HSA-212165 | Epigenetic regulation of gene expression |
| R-HSA-556833 | Metabolism of lipids |
| R-HSA-74160 | Gene expression (Transcription) |
| R-HSA-74182 | Ketone body metabolism |
| R-HSA-9818564 | Epigenetic regulation of gene expression by MLL3 and MLL4 complexes |
| R-HSA-9851695 | Epigenetic regulation of adipogenesis genes by MLL3 and MLL4 complexes |
| R-HSA-9917777 | Epigenetic regulation by WDR5-containing histone modifying complexes |
MSigDB gene sets: 76 (showing top):
WAMUNYOKOLI_OVARIAN_CANCER_LMP_DN, GOBP_GENERATION_OF_PRECURSOR_METABOLITES_AND_ENERGY, GOBP_SMALL_MOLECULE_BIOSYNTHETIC_PROCESS, CREIGHTON_ENDOCRINE_THERAPY_RESISTANCE_1, chr12q21, GOBP_LIPID_METABOLIC_PROCESS, DOUGLAS_BMI1_TARGETS_DN, GOBP_LIPID_BIOSYNTHETIC_PROCESS, CAIRO_HEPATOBLASTOMA_UP, GOBP_FATTY_ACID_DERIVATIVE_BIOSYNTHETIC_PROCESS, ACEVEDO_METHYLATED_IN_LIVER_CANCER_DN, GOBP_FATTY_ACID_DERIVATIVE_METABOLIC_PROCESS, HUANG_DASATINIB_RESISTANCE_DN, CHIANG_LIVER_CANCER_SUBCLASS_CTNNB1_UP, GOCC_MITOCHONDRIAL_MATRIX
GO Biological Process (2): ketone body biosynthetic process (GO:0046951), lipid metabolic process (GO:0006629)
GO Molecular Function (7): acetyl-CoA synthetase activity (GO:0003987), ATP binding (GO:0005524), medium-chain fatty acid-CoA ligase activity (GO:0031956), propionate-CoA ligase activity (GO:0050218), nucleotide binding (GO:0000166), protein binding (GO:0005515), ligase activity (GO:0016874)
GO Cellular Component (2): mitochondrion (GO:0005739), mitochondrial matrix (GO:0005759)
Reactome top-level categories
Rollup of top-8 pathways:
| Category | Pathways |
|---|---|
| Ketone body metabolism | 1 |
| Epigenetic regulation of adipogenesis genes by MLL3 and MLL4 complexes | 1 |
| Gene expression (Transcription) | 1 |
| Metabolism | 1 |
| Metabolism of lipids | 1 |
| Epigenetic regulation by WDR5-containing histone modifying complexes | 1 |
| Epigenetic regulation of gene expression by MLL3 and MLL4 complexes | 1 |
| Epigenetic regulation of gene expression | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| small molecule biosynthetic process | 1 |
| fatty acid derivative biosynthetic process | 1 |
| primary metabolic process | 1 |
| CoA-ligase activity | 1 |
| adenyl ribonucleotide binding | 1 |
| purine ribonucleoside triphosphate binding | 1 |
| fatty acid-CoA ligase activity | 1 |
| short-chain fatty acid-CoA ligase activity | 1 |
| nucleoside phosphate binding | 1 |
| heterocyclic compound binding | 1 |
| binding | 1 |
| catalytic activity | 1 |
| cytoplasm | 1 |
| intracellular membrane-bounded organelle | 1 |
| mitochondrion | 1 |
| intracellular organelle lumen | 1 |
Protein interactions and networks
STRING
1953 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| ACSS3 | AASDH | Q4L235 | 530 |
| ACSS3 | ACLY | P53396 | 519 |
| ACSS3 | HACD4 | Q5VWC8 | 491 |
| ACSS3 | PPFIA2 | O75334 | 480 |
| ACSS3 | LLPH | Q9BRT6 | 462 |
| ACSS3 | MSRB3 | Q8IXL7 | 462 |
| ACSS3 | RFX8 | Q6ZV50 | 460 |
| ACSS3 | ACAA2 | P42765 | 450 |
| ACSS3 | ACOT8 | O14734 | 449 |
| ACSS3 | HMGCL | P35914 | 429 |
| ACSS3 | FASN | P49327 | 425 |
| ACSS3 | STRADB | Q9C0K7 | 418 |
| ACSS3 | ATP5MK | Q96IX5 | 418 |
| ACSS3 | SPATA25 | Q9BR10 | 417 |
| ACSS3 | PCCA | P05165 | 411 |
IntAct
5 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| OPTN | ACSS3 | psi-mi:“MI:0915”(physical association) | 0.560 |
| LEFTY2 | ACSS3 | psi-mi:“MI:0915”(physical association) | 0.370 |
BioGRID (11): ACSS3 (Affinity Capture-MS), ACSS3 (Proximity Label-MS), ACSS3 (Co-fractionation), ACSS3 (Co-fractionation), ACSS3 (Co-fractionation), ACSS3 (Affinity Capture-MS), ACSS3 (Affinity Capture-MS), ACSS3 (Affinity Capture-Western), ACSS3 (Affinity Capture-MS), ACSS3 (Affinity Capture-MS), LEFTY2 (Two-hybrid)
ESM2 similar proteins: A0A0G2K047, A0KNI2, A1U2S9, A4G3L8, A4SJM6, A6UED8, A6WXV8, A7MB45, A8PDE3, B2JD61, B3PS41, B9DGD6, B9JEV4, B9JV43, C3MAS0, O13440, O60011, O68040, O94049, P16928, P16929, P31638, P36333, P52910, P78773, Q01574, Q01576, Q14DH7, Q27549, Q2K2T1, Q54Z60, Q554Z5, Q5REB8, Q6BQF2, Q6BS00, Q6FLU2, Q6FXI2, Q6MNF1, Q750T7, Q758X0
Diamond homologs: A0A0G2K047, A0B8F1, A0KNI2, A0L576, A0LG91, A0R5G1, A1SZA2, A1U2S9, A1UR36, A1UWN5, A2RYW5, A3MG40, A3P2K7, A4SJM6, A4WJG1, A5VSF3, A6UED8, A6WXV8, A7HSR8, A7IFD4, A7MB45, A9IYZ3, A9M849, A9W5V0, A9WWT6, B0S8X7, B0SRX5, B1M0M1, B1ZB59, B2IB12, B2JD61, B2S7N5, B3PS41, B5ZV36, B7KPN8, B8EPJ0, B8FIN2, B9JEV4, B9JV43, C0RF62
SIGNOR signaling
3 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| ACSS3 | “up-regulates quantity” | acetyl-CoA(4-) | “chemical modification” |
| ACSS3 | “down-regulates quantity” | acetate | “chemical modification” |
| ACSS3 | “down-regulates quantity” | “coenzyme A(4-)” | “chemical modification” |
Disease & clinical
Clinical variants and AI predictions
ClinVar
123 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 5 |
| Likely pathogenic | 1 |
| Uncertain significance | 95 |
| Likely benign | 6 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (6)
| Variant ID | HGVS | Classification |
|---|---|---|
| 155032 | GRCh38/hg38 12q21.1-22(chr12:73485697-92795805)x1 | Pathogenic |
| 3063243 | GRCh37/hg19 12q21.1-21.33(chr12:74887087-90469800)x1 | Pathogenic |
| 57584 | GRCh38/hg38 12q15-21.31(chr12:70337484-81761145)x1 | Pathogenic |
| 59816 | GRCh38/hg38 12q21.2-21.31(chr12:77564757-85370822)x3 | Pathogenic |
| 687328 | GRCh37/hg19 12q21.2-22(chr12:77737623-94330526)x1 | Pathogenic |
| 152482 | GRCh38/hg38 12q21.2-21.31(chr12:76566873-82021089)x1 | Likely pathogenic |
SpliceAI
4252 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 12:81109554:TTTCA:T | acceptor_loss | 1.0000 |
| 12:81109555:TTCA:T | acceptor_loss | 1.0000 |
| 12:81109557:CAG:C | acceptor_loss | 1.0000 |
| 12:81109558:AGGTT:A | acceptor_loss | 1.0000 |
| 12:81109559:GGT:G | acceptor_gain | 1.0000 |
| 12:81109559:GGTTT:G | acceptor_gain | 1.0000 |
| 12:81109700:AGCAG:A | donor_loss | 1.0000 |
| 12:81109701:GCAG:G | donor_gain | 1.0000 |
| 12:81109703:AG:A | donor_loss | 1.0000 |
| 12:81109704:GG:G | donor_loss | 1.0000 |
| 12:81109705:G:T | donor_loss | 1.0000 |
| 12:81109706:T:A | donor_loss | 1.0000 |
| 12:81151839:CTTA:C | acceptor_loss | 1.0000 |
| 12:81151841:TA:T | acceptor_loss | 1.0000 |
| 12:81151842:A:AG | acceptor_gain | 1.0000 |
| 12:81151842:AG:A | acceptor_gain | 1.0000 |
| 12:81151842:AGG:A | acceptor_gain | 1.0000 |
| 12:81151842:AGGGT:A | acceptor_gain | 1.0000 |
| 12:81151843:G:A | acceptor_gain | 1.0000 |
| 12:81151843:G:GG | acceptor_gain | 1.0000 |
| 12:81151843:GGG:G | acceptor_gain | 1.0000 |
| 12:81151843:GGGT:G | acceptor_gain | 1.0000 |
| 12:81151843:GGGTG:G | acceptor_gain | 1.0000 |
| 12:81151921:AGAGG:A | donor_loss | 1.0000 |
| 12:81151922:GAG:G | donor_gain | 1.0000 |
| 12:81151922:GAGGT:G | donor_loss | 1.0000 |
| 12:81151923:AGGTA:A | donor_loss | 1.0000 |
| 12:81151924:GGTA:G | donor_loss | 1.0000 |
| 12:81151925:G:T | donor_loss | 1.0000 |
| 12:81151926:T:A | donor_loss | 1.0000 |
AlphaMissense
4438 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 12:81134954:T:C | F199L | 0.999 |
| 12:81134956:T:A | F199L | 0.999 |
| 12:81134956:T:G | F199L | 0.999 |
| 12:81152028:T:A | W344R | 0.999 |
| 12:81152028:T:C | W344R | 0.999 |
| 12:81152030:G:C | W344C | 0.999 |
| 12:81152030:G:T | W344C | 0.999 |
| 12:81199435:T:A | W449R | 0.999 |
| 12:81199435:T:C | W449R | 0.999 |
| 12:81233367:G:C | D539H | 0.999 |
| 12:81109651:A:C | S135R | 0.998 |
| 12:81109653:T:A | S135R | 0.998 |
| 12:81109653:T:G | S135R | 0.998 |
| 12:81134963:T:C | F202L | 0.998 |
| 12:81134965:T:A | F202L | 0.998 |
| 12:81134965:T:G | F202L | 0.998 |
| 12:81152020:A:T | D341V | 0.998 |
| 12:81233370:G:C | A540P | 0.998 |
| 12:81233374:G:A | G541D | 0.998 |
| 12:81233404:T:A | V551D | 0.998 |
| 12:81253344:T:A | V586D | 0.998 |
| 12:81109637:C:A | A130D | 0.997 |
| 12:81152004:T:A | W336R | 0.997 |
| 12:81152004:T:C | W336R | 0.997 |
| 12:81152007:T:A | W337R | 0.997 |
| 12:81152007:T:C | W337R | 0.997 |
| 12:81152017:C:T | S340F | 0.997 |
| 12:81152020:A:C | D341A | 0.997 |
| 12:81152020:A:G | D341G | 0.997 |
| 12:81152086:T:A | V363D | 0.997 |
dbSNP variants (sampled 300 via entrez): RS1000012872 (12:81109449 G>A), RS1000024891 (12:81150623 A>G), RS1000028720 (12:81233825 A>T), RS1000031933 (12:81233564 C>T), RS1000037375 (12:81249370 T>G), RS1000079472 (12:81251297 T>C), RS1000082593 (12:81217623 A>G), RS1000084544 (12:81084016 A>G,T), RS1000097403 (12:81260754 G>T), RS1000102842 (12:81165319 C>T), RS1000107545 (12:81157814 A>G), RS1000157388 (12:81223316 C>A), RS1000190674 (12:81239580 C>T), RS1000194312 (12:81212838 C>T), RS1000228220 (12:81157057 T>C,G)
Disease associations
OMIM: gene MIM:614356 | disease phenotypes:
GenCC curated gene-disease
Mondo (1): breast ductal adenocarcinoma (MONDO:0005590)
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
10 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST002046_3 | Response to antidepressant treatment (citalopram) | 4.000000e-06 |
| GCST002359_6 | Plasma amyloid beta peptide concentrations (ABx-42) | 5.000000e-06 |
| GCST002618_2 | Age-related cataracts (age at onset) | 6.000000e-07 |
| GCST004639_34 | Prudent dietary pattern | 7.000000e-06 |
| GCST008522_16 | Bitter alcoholic beverage consumption | 2.000000e-07 |
| GCST008757_34 | Alcohol consumption | 2.000000e-09 |
| GCST009180_7 | Pars orbitalis volume | 6.000000e-06 |
| GCST009189_10 | Lateral orbital frontal cortex volume | 1.000000e-06 |
| GCST009190_14 | Medial orbital frontal cortex volume | 1.000000e-07 |
| GCST011122_73 | Walking pace | 3.000000e-10 |
EFO canonical traits (4, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0005660 | plasma beta-amyloid 1-42 measurement |
| EFO:0004847 | age at onset |
| EFO:0008111 | diet measurement |
| EFO:0010092 | bitter alcoholic beverage consumption measurement |
MeSH disease descriptors (1)
| Descriptor | Name | Tree numbers |
|---|---|---|
| D018270 | Carcinoma, Ductal, Breast | C04.557.470.200.025.232.500; C04.557.470.615.132.500; C04.588.180.390; C17.800.090.500.390 |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
38 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Valproic Acid | increases expression | 3 |
| methylmercuric chloride | decreases expression | 2 |
| Acetaminophen | decreases expression | 2 |
| Arsenic | affects methylation | 2 |
| Cyclosporine | decreases expression | 2 |
| aristolochic acid I | decreases expression | 1 |
| dicrotophos | decreases expression | 1 |
| bisphenol A | affects expression | 1 |
| arsenite | increases methylation | 1 |
| sodium arsenite | increases expression | 1 |
| perfluorooctanoic acid | affects cotreatment, increases expression | 1 |
| potassium chromate(VI) | increases expression | 1 |
| lei gong teng | increases expression | 1 |
| epigallocatechin gallate | decreases expression | 1 |
| abrine | decreases expression | 1 |
| MRK 003 | decreases expression | 1 |
| incobotulinumtoxinA | increases expression | 1 |
| Benzo(a)pyrene | decreases methylation, increases methylation | 1 |
| Calcitriol | affects cotreatment, increases expression | 1 |
| Cosmetics | affects cotreatment, increases expression | 1 |
| Coumestrol | decreases expression | 1 |
| Dimethyl Sulfoxide | increases expression | 1 |
| Doxorubicin | decreases expression | 1 |
| Estradiol | decreases expression | 1 |
| Flame Retardants | affects cotreatment, increases expression | 1 |
| Lead | affects expression | 1 |
| Mercuric Chloride | decreases expression | 1 |
| Nickel | decreases expression | 1 |
| Plasticizers | affects cotreatment, increases expression | 1 |
| Quercetin | decreases expression | 1 |
Cellosaurus cell lines
1 cell lines: 1 cancer cell line
First 10 cell lines (id-ordered, not curated):
| Cellosaurus | Name | Category | Sex |
|---|---|---|---|
| CVCL_D7JE | Ubigene A-549 ACSS3 KO | Cancer cell line | Male |
Clinical trials (associated diseases)
11 trials via MONDO — disease-level, not drug-specific.
| Trial | Phase | Status | Title |
|---|---|---|---|
| NCT03414970 | PHASE3 | ACTIVE_NOT_RECRUITING | Hypofractionated Radiation Therapy After Mastectomy in Preventing Recurrence in Patients With Stage IIa-IIIa Breast Cancer |
| NCT00461344 | PHASE2 | TERMINATED | Docetaxel + Doxorubicin as Neoadjuvant Chemotherapy in Patients With Breast Cancer |
| NCT07499999 | PHASE2 | NOT_YET_RECRUITING | Randomized Double-Blind Phase II Trial of Baby Exemestane Versus Baby Tamoxifen in Post-Menopausal Women at High Risk for Breast Cancer |
| NCT00637364 | PHASE1/PHASE2 | SUSPENDED | High Intensity Focused Ultrasound Tumor Treatment for Pancreatic Cancer Pain |
| NCT02779855 | PHASE1/PHASE2 | COMPLETED | Talimogene Laherparepvec in Combination With Neoadjuvant Chemotherapy in Triple Negative Breast Cancer |
| NCT01753908 | EARLY_PHASE1 | COMPLETED | Broccoli Sprout Extract in Treating Patients With Breast Cancer |
| NCT01796041 | EARLY_PHASE1 | COMPLETED | Intraoperative Imaging of Breast Cancer With Indocyanine Green |
| NCT01208974 | Not specified | ACTIVE_NOT_RECRUITING | Nipple-Areola Complex (NAC) Irradiation After Nipple-Sparing Mastectomy and Reconstruction |
| NCT01875198 | Not specified | TERMINATED | Oncologic Impact of Splenectomy-omitting Radical Pancreatectomy in Well-selected Left-sided Pancreatic Cancer |
| NCT03543397 | Not specified | UNKNOWN | MRI in Ductal Carcinoma in Situ (DCIS) |
| NCT03834532 | Not specified | COMPLETED | Living Well After Breast Surgery |
Related Atlas pages
No linked Atlas pages yet — the cross-entity mesh grows as the corpus expands.