AACS
gene geneOn this page
Also known as FLJ12389SUR-5ACSF1
Summary
AACS (acetoacetyl-CoA synthetase, HGNC:21298) is a protein-coding gene on chromosome 12q24.31, encoding Acetoacetyl-CoA synthetase (Q86V21). Converts acetoacetate to acetoacetyl-CoA in the cytosol.
Predicted to enable acetoacetate-CoA ligase activity. Predicted to be involved in positive regulation of insulin secretion. Predicted to be located in cytosol.
Source: NCBI Gene 65985 — RefSeq curated summary.
At a glance
- GWAS associations: 4
- Clinical variants (ClinVar): 157 total — 9 pathogenic, 1 likely-pathogenic
- MANE Select transcript:
NM_023928
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:21298 |
| Approved symbol | AACS |
| Name | acetoacetyl-CoA synthetase |
| Location | 12q24.31 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | FLJ12389, SUR-5, ACSF1 |
| Ensembl gene | ENSG00000081760 |
| Ensembl biotype | protein_coding |
| OMIM | 614364 |
| Entrez | 65985 |
Gene structure
Transcript identifiers
Ensembl transcripts: 25 — 14 protein_coding, 6 retained_intron, 4 protein_coding_CDS_not_defined, 1 nonsense_mediated_decay
ENST00000316519, ENST00000316543, ENST00000398953, ENST00000418937, ENST00000441247, ENST00000536118, ENST00000537477, ENST00000537564, ENST00000538851, ENST00000539251, ENST00000543665, ENST00000545511, ENST00000852617, ENST00000852618, ENST00000852619, ENST00000852620, ENST00000852621, ENST00000852622, ENST00000938196, ENST00000938197, ENST00000971006, ENST00000971007, ENST00000971008, ENST00000971009, ENST00000971010
RefSeq mRNA: 7 — MANE Select: NM_023928
NM_001319839, NM_001319840, NM_001414675, NM_001414676, NM_001414677, NM_001414678, NM_023928
CCDS: CCDS9263
Canonical transcript exons
ENST00000316519 — 18 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001351954 | 125065435 | 125065717 |
| ENSE00002252189 | 125076491 | 125076611 |
| ENSE00002270203 | 125073876 | 125073979 |
| ENSE00002308409 | 125142092 | 125143316 |
| ENSE00003513125 | 125118641 | 125118765 |
| ENSE00003530618 | 125134794 | 125134852 |
| ENSE00003530806 | 125129335 | 125129460 |
| ENSE00003535117 | 125107121 | 125107268 |
| ENSE00003560785 | 125124902 | 125125024 |
| ENSE00003615751 | 125114477 | 125114557 |
| ENSE00003617187 | 125091426 | 125091523 |
| ENSE00003647970 | 125128161 | 125128274 |
| ENSE00003657287 | 125103000 | 125103081 |
| ENSE00003684270 | 125086330 | 125086443 |
| ENSE00003716788 | 125102679 | 125102793 |
| ENSE00003722573 | 125124705 | 125124769 |
| ENSE00003729557 | 125134003 | 125134072 |
| ENSE00003737535 | 125136662 | 125136864 |
Expression profiles
Bgee: expression breadth ubiquitous, 278 present calls, max score 98.38.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 14.7123 / max 129.2397, expressed in 1798 samples.
FANTOM5 promoters (3 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 128665 | 12.2708 | 1782 |
| 128664 | 2.2059 | 1280 |
| 128666 | 0.2356 | 114 |
Top tissues by expression
285 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| parotid gland | UBERON:0001831 | 98.38 | gold quality |
| gingival epithelium | UBERON:0001949 | 97.35 | gold quality |
| gingiva | UBERON:0001828 | 96.50 | gold quality |
| upper arm skin | UBERON:0004263 | 96.45 | gold quality |
| nipple | UBERON:0002030 | 96.43 | gold quality |
| middle temporal gyrus | UBERON:0002771 | 96.38 | gold quality |
| mammalian vulva | UBERON:0000997 | 95.81 | gold quality |
| trachea | UBERON:0003126 | 95.60 | gold quality |
| esophagus squamous epithelium | UBERON:0006920 | 95.50 | gold quality |
| squamous epithelium | UBERON:0006914 | 95.44 | gold quality |
| tibia | UBERON:0000979 | 95.27 | gold quality |
| epithelium of esophagus | UBERON:0001976 | 95.13 | gold quality |
| penis | UBERON:0000989 | 94.83 | gold quality |
| upper leg skin | UBERON:0004262 | 94.82 | gold quality |
| oocyte | CL:0000023 | 94.81 | gold quality |
| Brodmann (1909) area 23 | UBERON:0013554 | 94.76 | gold quality |
| skin of abdomen | UBERON:0001416 | 94.41 | gold quality |
| zone of skin | UBERON:0000014 | 93.97 | gold quality |
| skin of leg | UBERON:0001511 | 93.76 | gold quality |
| pharyngeal mucosa | UBERON:0000355 | 93.58 | gold quality |
| saliva-secreting gland | UBERON:0001044 | 93.26 | gold quality |
| orbitofrontal cortex | UBERON:0004167 | 92.84 | gold quality |
| endothelial cell | CL:0000115 | 92.76 | gold quality |
| tongue squamous epithelium | UBERON:0006919 | 92.69 | gold quality |
| mouth mucosa | UBERON:0003729 | 92.68 | gold quality |
| secondary oocyte | CL:0000655 | 92.61 | gold quality |
| oral cavity | UBERON:0000167 | 92.61 | gold quality |
| skin of hip | UBERON:0001554 | 92.43 | gold quality |
| cervix squamous epithelium | UBERON:0006922 | 92.35 | gold quality |
| pylorus | UBERON:0001166 | 92.31 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | no | 0.00 |
Regulation
Is transcription factor: no
Upstream regulators (CollecTRI, top): CEBPA, PPARG, SP1, SREBF2, TP63
miRNA regulators (miRDB)
27 targeting AACS, 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-3613-3P | 100.00 | 76.36 | 7965 |
| HSA-MIR-4747-5P | 100.00 | 67.90 | 2681 |
| HSA-MIR-5196-5P | 100.00 | 67.98 | 2761 |
| HSA-MIR-8075 | 99.97 | 67.20 | 962 |
| 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-651-3P | 99.94 | 73.48 | 5177 |
| HSA-MIR-4493 | 99.90 | 66.48 | 977 |
| HSA-MIR-3934-3P | 99.76 | 65.51 | 1351 |
| HSA-MIR-3679-3P | 99.64 | 69.88 | 1599 |
| HSA-MIR-4328 | 99.57 | 71.06 | 4094 |
| HSA-MIR-580-5P | 99.28 | 70.94 | 1776 |
| HSA-MIR-6501-3P | 98.71 | 67.45 | 1480 |
| HSA-MIR-9500 | 98.62 | 66.54 | 1845 |
| HSA-MIR-219A-2-3P | 98.62 | 68.78 | 797 |
| HSA-MIR-6784-3P | 98.39 | 64.88 | 662 |
| HSA-MIR-4289 | 98.26 | 66.90 | 810 |
| HSA-MIR-876-5P | 97.99 | 68.49 | 1345 |
| HSA-MIR-6529-5P | 97.85 | 66.47 | 673 |
| HSA-MIR-3190-3P | 97.61 | 66.95 | 1406 |
| HSA-MIR-6515-5P | 97.08 | 65.48 | 1219 |
| HSA-MIR-6875-5P | 96.87 | 65.49 | 958 |
| HSA-MIR-3126-5P | 96.87 | 65.83 | 912 |
| HSA-MIR-3167 | 96.81 | 67.09 | 1236 |
| HSA-MIR-3654 | 96.43 | 66.55 | 646 |
| HSA-MIR-6741-5P | 93.86 | 63.06 | 437 |
Literature-anchored findings (GeneRIF, showing 2)
- the human AACS promoter is a PPARgamma target gene and this nuclear receptor is recruited to the AACS promoter by direct interaction with Sp1 (PMID:20102333)
- Fine-scale haplotype mapping of MUT, AACS, SLC6A15 and PRKCA genes indicates association with insulin resistance of metabolic syndrome and relationship with branched chain amino acid metabolism or regulation. (PMID:30913280)
Cross-species orthologs
4 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | aacs | ENSDARG00000012468 |
| mus_musculus | Aacs | ENSMUSG00000029482 |
| rattus_norvegicus | Aacs | ENSRNOG00000000967 |
| caenorhabditis_elegans | WBGENE00006351 |
Paralogs (13): ACSM3 (ENSG00000005187), ACSM2B (ENSG00000066813), ACSS3 (ENSG00000111058), ACSS2 (ENSG00000131069), ACSS1 (ENSG00000154930), AASDH (ENSG00000157426), ACSM1 (ENSG00000166743), ACSF2 (ENSG00000167107), ACSM6 (ENSG00000173124), ACSF3 (ENSG00000176715), ACSM5 (ENSG00000183549), ACSM2A (ENSG00000183747), ACSM4 (ENSG00000215009)
Protein
Protein identifiers
Acetoacetyl-CoA synthetase — Q86V21 (reviewed: Q86V21)
Alternative names: Acyl-CoA synthetase family member 1, Protein sur-5 homolog
All UniProt accessions (2): Q86V21, E7EW25
UniProt curated annotations — full annotation on UniProt →
Function. Converts acetoacetate to acetoacetyl-CoA in the cytosol. Ketone body-utilizing enzyme, responsible for the synthesis of cholesterol and fatty acids.
Subcellular location. Cytoplasm. Cytosol.
Tissue specificity. Highly expressed in kidney, heart and brain, but low in liver.
Similarity. Belongs to the ATP-dependent AMP-binding enzyme family.
Isoforms (3)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q86V21-1 | 1 | yes |
| Q86V21-2 | 2 | |
| Q86V21-3 | 3 |
RefSeq proteins (7): NP_001306768, NP_001306769, NP_001401604, NP_001401605, NP_001401606, NP_001401607, NP_076417* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR000873 | AMP-dep_synth/lig_dom | Domain |
| IPR005914 | Acac_CoA_synth | Family |
| IPR020845 | AMP-binding_CS | Conserved_site |
| IPR032387 | ACAS_N | Domain |
| IPR042099 | ANL_N_sf | Homologous_superfamily |
| IPR045851 | AMP-b_sf | Homologous_superfamily |
Pfam: PF00501, PF16177
Catalyzed reactions (Rhea), 1 shown:
- acetoacetate + ATP + CoA = acetoacetyl-CoA + AMP + diphosphate (RHEA:16117)
UniProt features (11 total): sequence conflict 6, splice variant 2, sequence variant 2, chain 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q86V21-F1 | 92.09 | 0.78 |
Function
Pathways and Gene Ontology
Reactome pathways
4 pathways
| ID | Pathway |
|---|---|
| R-HSA-77111 | Synthesis of Ketone Bodies |
| R-HSA-1430728 | Metabolism |
| R-HSA-556833 | Metabolism of lipids |
| R-HSA-74182 | Ketone body metabolism |
MSigDB gene sets: 122 (showing top):
GOBP_INSULIN_SECRETION, GOBP_POSITIVE_REGULATION_OF_PROTEIN_LOCALIZATION, GOBP_REGULATION_OF_HORMONE_LEVELS, GOBP_HORMONE_TRANSPORT, GOBP_MONOCARBOXYLIC_ACID_METABOLIC_PROCESS, GOBP_CELL_CELL_SIGNALING, PATIL_LIVER_CANCER, GOBP_GENERATION_OF_PRECURSOR_METABOLITES_AND_ENERGY, GOBP_SMALL_MOLECULE_BIOSYNTHETIC_PROCESS, GOBP_POSITIVE_REGULATION_OF_INSULIN_SECRETION, GOBP_REGULATION_OF_PROTEIN_SECRETION, ONKEN_UVEAL_MELANOMA_UP, GROSS_HYPOXIA_VIA_ELK3_UP, GOBP_SECRETION, GOBP_POSITIVE_REGULATION_OF_HORMONE_SECRETION
GO Biological Process (4): fatty acid metabolic process (GO:0006631), positive regulation of insulin secretion (GO:0032024), ketone body biosynthetic process (GO:0046951), lipid metabolic process (GO:0006629)
GO Molecular Function (5): ATP binding (GO:0005524), acetoacetate-CoA ligase activity (GO:0030729), nucleotide binding (GO:0000166), protein binding (GO:0005515), ligase activity (GO:0016874)
GO Cellular Component (2): cytosol (GO:0005829), cytoplasm (GO:0005737)
Reactome top-level categories
Rollup of top-3 pathways:
| Category | Pathways |
|---|---|
| Ketone body metabolism | 1 |
| Metabolism | 1 |
| Metabolism of lipids | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cellular anatomical structure | 2 |
| lipid metabolic process | 1 |
| monocarboxylic acid metabolic process | 1 |
| insulin secretion | 1 |
| positive regulation of protein secretion | 1 |
| regulation of insulin secretion | 1 |
| positive regulation of peptide hormone secretion | 1 |
| small molecule biosynthetic process | 1 |
| fatty acid derivative biosynthetic process | 1 |
| primary metabolic process | 1 |
| adenyl ribonucleotide binding | 1 |
| purine ribonucleoside triphosphate binding | 1 |
| CoA-ligase activity | 1 |
| nucleoside phosphate binding | 1 |
| heterocyclic compound binding | 1 |
| binding | 1 |
| catalytic activity | 1 |
| cytoplasm | 1 |
| intracellular anatomical structure | 1 |
Protein interactions and networks
STRING
2261 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| AACS | UNC119 | Q13432 | 681 |
| AACS | OXCT1 | P55809 | 557 |
| AACS | FASN | P49327 | 553 |
| AACS | ELOVL6 | Q9H5J4 | 541 |
| AACS | HMGCS1 | Q01581 | 537 |
| AACS | HMGCR | P04035 | 523 |
| AACS | ACLY | P53396 | 520 |
| AACS | CYP4V2 | Q6ZWL3 | 517 |
| AACS | IGDCC3 | Q8IVU1 | 474 |
| AACS | AASDH | Q4L235 | 473 |
| AACS | MVK | Q03426 | 473 |
| AACS | ACACA | Q13085 | 470 |
| AACS | AJM1 | C9J069 | 469 |
| AACS | STOML1 | Q9UBI4 | 451 |
| AACS | ERI1 | Q8IV48 | 443 |
IntAct
24 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| CMTM5 | AACS | psi-mi:“MI:0915”(physical association) | 0.560 |
| AACS | CMTM5 | psi-mi:“MI:0915”(physical association) | 0.560 |
| LPAR1 | TMEM223 | psi-mi:“MI:0914”(association) | 0.530 |
| SPSB4 | ARHGEF10 | psi-mi:“MI:0914”(association) | 0.530 |
| CACNG1 | TMEM120B | psi-mi:“MI:0914”(association) | 0.350 |
| EEF1AKMT3 | SMCHD1 | psi-mi:“MI:0914”(association) | 0.350 |
| PSG11 | ZSWIM8 | psi-mi:“MI:0914”(association) | 0.350 |
| CYP2C18 | PGRMC1 | psi-mi:“MI:0914”(association) | 0.350 |
| ARMC6 | DDX39A | psi-mi:“MI:0914”(association) | 0.350 |
| CHRM4 | EXOC5 | psi-mi:“MI:0914”(association) | 0.350 |
| CHRNB2 | SNX2 | psi-mi:“MI:0914”(association) | 0.350 |
| EFNB2 | TCAF2 | psi-mi:“MI:0914”(association) | 0.350 |
| ERF | DVL2 | psi-mi:“MI:0914”(association) | 0.350 |
| FBXL16 | STK25 | psi-mi:“MI:0914”(association) | 0.350 |
| GSDME | DDX39A | psi-mi:“MI:0914”(association) | 0.350 |
| HPN | DDX39A | psi-mi:“MI:0914”(association) | 0.350 |
| IL5RA | LETM1 | psi-mi:“MI:0914”(association) | 0.350 |
| KLK2 | VWA8 | psi-mi:“MI:0914”(association) | 0.350 |
| PEX7 | UBA6 | psi-mi:“MI:0914”(association) | 0.350 |
| SFN | DDX39A | psi-mi:“MI:0914”(association) | 0.350 |
| SMPD2 | A2ML1 | psi-mi:“MI:0914”(association) | 0.350 |
| VENTX | UBA6 | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (26): CMTM5 (Two-hybrid), AACS (Co-fractionation), AACS (Co-fractionation), STAT6 (Co-fractionation), UNC13D (Co-fractionation), AACS (Affinity Capture-RNA), AACS (Affinity Capture-MS), AACS (Affinity Capture-MS), AACS (Affinity Capture-MS), AACS (Affinity Capture-MS), AACS (Affinity Capture-MS), AACS (Co-fractionation), AACS (Co-fractionation), AACS (Co-fractionation), AACS (Co-fractionation)
ESM2 similar proteins: A0A0U1WZ18, A3QK15, B9N1F9, D3ZVR9, E0CSI1, O70196, P00503, P00504, P05201, P08906, P33121, P33124, P40142, P50137, P50554, P54767, P61922, P78330, P80147, Q07346, Q14410, Q15124, Q1W377, Q28BL6, Q2KHU0, Q2KIG0, Q42472, Q42521, Q4R4D5, Q4R5L1, Q5R691, Q5RB83, Q5ZLG0, Q6P1N9, Q6P8M1, Q7TN78, Q80W40, Q86V21, Q8BZF8, Q8K183
Diamond homologs: A3QK15, D7PHZ3, P27097, Q21166, Q28BL6, Q5ZLG0, Q86V21, Q9D2R0, Q9JMI1, Q9N0E1, Q9Z3R3, Q973W5
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
157 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 9 |
| Likely pathogenic | 1 |
| Uncertain significance | 117 |
| Likely benign | 3 |
| Benign | 6 |
Top pathogenic / likely-pathogenic (10)
| Variant ID | HGVS | Classification |
|---|---|---|
| 1047868 | GRCh37/hg19 12q24.31-24.32(chr12:123878845-126829341) | Pathogenic |
| 146222 | GRCh38/hg38 12q24.31-24.33(chr12:123509825-133191400)x3 | Pathogenic |
| 148578 | GRCh38/hg38 12q24.31-24.33(chr12:120697672-133202490)x3 | Pathogenic |
| 155183 | GRCh38/hg38 12q24.31-24.32(chr12:121917758-127802717)x1 | Pathogenic |
| 4682809 | GRCh37/hg19 12q23.1-24.33(chr12:99532287-133777902)x3 | Pathogenic |
| 57448 | GRCh38/hg38 12q24.31-24.33(chr12:123444758-133191400)x3 | Pathogenic |
| 57612 | GRCh38/hg38 12q24.31-24.33(chr12:122985202-130714574)x1 | Pathogenic |
| 625819 | GRCh37/hg19 12q24.31-24.33(chr12:125451405-133810935) | Pathogenic |
| 687704 | GRCh37/hg19 12q24.31-24.32(chr12:122169403-129084163)x1 | Pathogenic |
| 1330196 | GRCh37/hg19 12q24.22-24.33(chr12:117461902-133841395)x3 | Likely pathogenic |
SpliceAI
3703 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 12:125065652:G:GG | donor_gain | 1.0000 |
| 12:125065713:GCTGG:G | donor_gain | 1.0000 |
| 12:125065714:CTGGG:C | donor_loss | 1.0000 |
| 12:125065715:TGGG:T | donor_loss | 1.0000 |
| 12:125065716:GG:G | donor_gain | 1.0000 |
| 12:125065717:GG:G | donor_gain | 1.0000 |
| 12:125065717:GGTG:G | donor_loss | 1.0000 |
| 12:125065718:G:GG | donor_gain | 1.0000 |
| 12:125065718:GTGAG:G | donor_loss | 1.0000 |
| 12:125065719:T:G | donor_loss | 1.0000 |
| 12:125073875:GA:G | acceptor_gain | 1.0000 |
| 12:125073875:GAGA:G | acceptor_gain | 1.0000 |
| 12:125076480:A:AG | acceptor_gain | 1.0000 |
| 12:125076481:T:G | acceptor_gain | 1.0000 |
| 12:125076486:TATA:T | acceptor_loss | 1.0000 |
| 12:125076487:A:AG | acceptor_gain | 1.0000 |
| 12:125076487:ATAG:A | acceptor_gain | 1.0000 |
| 12:125076488:TAG:T | acceptor_loss | 1.0000 |
| 12:125076489:A:AG | acceptor_gain | 1.0000 |
| 12:125076489:AG:A | acceptor_gain | 1.0000 |
| 12:125076489:AGGTT:A | acceptor_gain | 1.0000 |
| 12:125076490:G:GG | acceptor_gain | 1.0000 |
| 12:125076490:GG:G | acceptor_gain | 1.0000 |
| 12:125076490:GGT:G | acceptor_gain | 1.0000 |
| 12:125076490:GGTT:G | acceptor_gain | 1.0000 |
| 12:125076490:GGTTG:G | acceptor_gain | 1.0000 |
| 12:125076607:TGCAA:T | donor_gain | 1.0000 |
| 12:125076608:GCAA:G | donor_gain | 1.0000 |
| 12:125076608:GCAAG:G | donor_gain | 1.0000 |
| 12:125076609:C:T | donor_gain | 1.0000 |
AlphaMissense
4439 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 12:125142126:T:A | V639D | 0.998 |
| 12:125091494:A:C | S181R | 0.997 |
| 12:125091496:C:A | S181R | 0.997 |
| 12:125091496:C:G | S181R | 0.997 |
| 12:125102692:G:C | R195P | 0.997 |
| 12:125134008:T:A | W519R | 0.997 |
| 12:125134008:T:C | W519R | 0.997 |
| 12:125134831:A:C | S553R | 0.997 |
| 12:125134833:C:A | S553R | 0.997 |
| 12:125134833:C:G | S553R | 0.997 |
| 12:125076530:T:A | W93R | 0.996 |
| 12:125076530:T:C | W93R | 0.996 |
| 12:125091491:T:A | W180R | 0.996 |
| 12:125091491:T:C | W180R | 0.996 |
| 12:125107218:T:C | F289L | 0.996 |
| 12:125107220:C:A | F289L | 0.996 |
| 12:125107220:C:G | F289L | 0.996 |
| 12:125118647:T:A | W335R | 0.995 |
| 12:125118647:T:C | W335R | 0.995 |
| 12:125076553:C:A | N100K | 0.994 |
| 12:125076553:C:G | N100K | 0.994 |
| 12:125142108:A:C | K633T | 0.994 |
| 12:125142109:G:C | K633N | 0.994 |
| 12:125142109:G:T | K633N | 0.994 |
| 12:125086438:T:A | V156D | 0.993 |
| 12:125107228:G:A | G292D | 0.993 |
| 12:125118656:T:A | W338R | 0.993 |
| 12:125118656:T:C | W338R | 0.993 |
| 12:125128169:G:C | D440H | 0.993 |
| 12:125134020:G:C | D523H | 0.993 |
dbSNP variants (sampled 300 via entrez): RS1000013225 (12:125141250 G>A), RS1000017753 (12:125065778 G>A), RS1000018200 (12:125116993 A>G), RS1000029017 (12:125086108 G>A,C), RS1000071322 (12:125073610 G>C), RS1000089166 (12:125076227 G>A), RS1000149193 (12:125065346 C>G,T), RS1000163114 (12:125095509 G>T), RS1000183268 (12:125132979 C>A,T), RS1000188669 (12:125101822 A>G), RS1000255477 (12:125133297 G>A), RS1000291758 (12:125101122 T>C), RS1000320425 (12:125079181 G>A), RS1000386247 (12:125101435 G>A), RS1000419795 (12:125138594 G>A,C)
Disease associations
OMIM: gene MIM:614364 | disease phenotypes: MIM:618709
GenCC curated gene-disease
Mondo (1): neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures (MONDO:0032877)
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
4 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST007135_2 | Resistant hypertension | 9.000000e-06 |
| GCST009733_200 | Urinary metabolite levels in chronic kidney disease | 1.000000e-21 |
| GCST011037_9 | Parkinson’s disease progression (cognitive) | 2.000000e-06 |
| GCST011350_1 | C-reactive protein levels | 5.000000e-12 |
EFO canonical traits (4, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:1002006 | treatment-resistant hypertension |
| EFO:0005116 | urinary metabolite measurement |
| EFO:0008336 | disease progression measurement |
| EFO:0004458 | C-reactive protein measurement |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
30 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| bisphenol F | affects cotreatment, increases methylation, increases expression | 2 |
| bisphenol A | decreases expression, increases expression | 2 |
| bisphenol S | decreases methylation, increases expression | 2 |
| Valproic Acid | affects expression, decreases expression | 2 |
| Cadmium Chloride | decreases expression, increases abundance, increases expression | 2 |
| GSK-J4 | decreases expression | 1 |
| sodium arsenite | affects cotreatment, increases abundance, increases expression | 1 |
| manganese chloride | increases expression, affects cotreatment, increases abundance | 1 |
| beta-hydroxy simvastatin acid | affects expression | 1 |
| bisphenol B | increases expression | 1 |
| bisphenol AF | increases expression | 1 |
| 4-(4-((5-(4,5-dimethyl-2-nitrophenyl)-2-furanyl)methylene)-4,5-dihydro-3-methyl-5-oxo-1H-pyrazol-1-yl)benzoic acid | increases expression | 1 |
| Sunitinib | increases expression | 1 |
| Fulvestrant | affects cotreatment, increases methylation | 1 |
| Acetaminophen | increases expression | 1 |
| Air Pollutants | decreases expression, increases abundance | 1 |
| Arsenic | affects cotreatment, increases abundance, increases expression | 1 |
| Cadmium | increases abundance, increases expression | 1 |
| Carbamazepine | affects expression | 1 |
| Cisplatin | increases expression | 1 |
| Ivermectin | decreases expression | 1 |
| Manganese | affects cotreatment, increases abundance, increases expression | 1 |
| Nickel | decreases expression | 1 |
| Smoke | decreases expression | 1 |
| Urethane | increases expression | 1 |
| Isotretinoin | decreases expression | 1 |
| Cyclosporine | increases expression | 1 |
| Antirheumatic Agents | decreases expression | 1 |
| Okadaic Acid | increases expression | 1 |
| Particulate Matter | decreases expression, increases abundance | 1 |
Clinical trials (associated diseases)
0 trials via MONDO — disease-level, not drug-specific.
Related Atlas pages
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures