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Atlas / Gene / ACSF2

ACSF2

gene
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Also known as FLJ20920ACSMW

Summary

ACSF2 (acyl-CoA synthetase family member 2, HGNC:26101) is a protein-coding gene on chromosome 17q21.33, encoding Medium-chain acyl-CoA ligase ACSF2, mitochondrial (Q96CM8). Acyl-CoA synthases catalyze the initial reaction in fatty acid metabolism, by forming a thioester with CoA.

Enables medium-chain fatty acid-CoA ligase activity. Predicted to be involved in fatty acid metabolic process. Located in mitochondrion.

Source: NCBI Gene 80221 — automated summary from GO annotations (Alliance of Genome Resources).

At a glance

  • GWAS associations: 1
  • Clinical variants (ClinVar): 166 total — 1 pathogenic
  • GTEx eGene: eQTL in 26 tissues, sQTL in 14 (q < 0.05)
  • Constraint (gnomAD): pLI 0.00 (LoF-tolerant), LOEUF 0.84 (unconstrained)
  • MANE Select transcript: NM_025149
  • Interaction hub: 1,965 STRING partners (top 8% of genes corpus-wide)
  • Notable: 166 clinical variants but no curated precision-oncology (CIViC) evidence yet

Identifiers

Gene identifiers

FieldValue
HGNC IDHGNC:26101
Approved symbolACSF2
Nameacyl-CoA synthetase family member 2
Location17q21.33
Locus typegene with protein product
StatusApproved
AliasesFLJ20920, ACSMW
Ensembl geneENSG00000167107
Ensembl biotypeprotein_coding
OMIM610465
Entrez80221

Gene structure

Transcript identifiers

Ensembl transcripts: 50 — 26 protein_coding, 10 retained_intron, 8 nonsense_mediated_decay, 6 protein_coding_CDS_not_defined

MANE Select: ENST00000300441

Transcript support level (Ensembl TSL; 1 = fully mRNA-supported): TSL 1: 3, TSL 2: 8, TSL 3: 5, TSL 4: 3, TSL 5: 6

ENST00000300441, ENST00000427954, ENST00000502667, ENST00000503295, ENST00000503387, ENST00000503408, ENST00000504392, ENST00000504945, ENST00000506052, ENST00000506085, ENST00000506582, ENST00000507769, ENST00000507792, ENST00000508245, ENST00000508734, ENST00000509806, ENST00000510262, ENST00000510410, ENST00000511147, ENST00000511288, ENST00000512119, ENST00000512537, ENST00000513101, ENST00000513544, ENST00000570356, ENST00000893265, ENST00000893266, ENST00000893267, ENST00000893268, ENST00000893269, ENST00000893270, ENST00000893271, ENST00000893272, ENST00000893273, ENST00000893274, ENST00000916543, ENST00000942395, ENST00000942396, ENST00000942397, ENST00000942398, ENST00000942399, ENST00000942400, ENST00000942401, ENST00000942402, ENST00000942403, ENST00001017294, ENST00001017295, ENST00001017296, ENST00001017298, ENST00001137075

RefSeq mRNA: 6 — MANE Select: NM_025149 NM_001288968, NM_001288969, NM_001288970, NM_001288971, NM_001288972, NM_025149

CCDS: CCDS11567, CCDS74103, CCDS74104, CCDS74105

Canonical transcript exons

ENST00000300441 — 16 exons

ExonStartEnd
ENSE000011097475046124250461370
ENSE000020698415047450250474837
ENSE000034851655047389450474004
ENSE000034937705046242050462585
ENSE000035287305046315650463251
ENSE000035345965046067750460872
ENSE000035424825046218450462302
ENSE000035549345046163350461686
ENSE000035696575047242850472579
ENSE000036096175046421850464294
ENSE000036096535047102850471135
ENSE000036154325047366550473806
ENSE000036304375047419950474267
ENSE000036473415046381850463909
ENSE000036781585042621850426389
ENSE000036932285046339550463552

Expression profiles

Bgee: expression breadth ubiquitous, 244 present calls, max score 99.00.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 16.3133 / max 664.2887, expressed in 1775 samples.

Highest expression (Bgee): lobe of thyroid gland, adrenal gland cortex, adrenal gland, mucosa of transverse colon, thyroid gland.

Genetic regulation across tissues (GTEx eQTL / sQTL)

ACSF2 is an eGene in GTEx v10 — its expression is genetically regulated (eQTL) in 26 tissues and its splicing (sQTL) in 14 (q < 0.05). Strongest associations first; slope = normalized effect of the lead variant’s alternative allele.

showing 20 of 40 significant tissue × QTL associations:

TissueQTLq-valueSlopeLead variant
Heart Left Ventricleeqtl1.6e-37-0.5117:50445152:G:T
Heart Atrial Appendageeqtl1.1e-25-0.3217:50443871:C:G
Testiseqtl3.2e-25-0.3717:50470072:T:C
Skin Sun Exposed Lower legeqtl2.4e-18-0.2717:50462402:C:A
Nerve Tibialeqtl2.0e-13-0.2417:50476640:G:A
Skin Not Sun Exposed Suprapubiceqtl8.8e-12-0.2317:50434439:C:A
Brain Cerebellumsqtl2.1e-09-0.6517:50462402:C:A
Whole Bloodeqtl2.6e-09-0.1617:50443842:G:A
Muscle Skeletalsqtl1.0e-07+0.4117:50475094:C:G
Lungeqtl2.9e-07-0.1617:50446812:T:C
Stomacheqtl4.2e-07-0.1817:50490869:C:T
Heart Atrial Appendagesqtl1.3e-06+0.5017:50436681:A:G
Thyroidsqtl2.5e-06+0.2417:50464346:G:A
Brain Cerebellar Hemispheresqtl2.6e-05-0.5117:50434439:C:A
Nerve Tibialsqtl9.0e-05-0.3517:50432741:G:A
Esophagus Musculariseqtl1.3e-04-0.1317:50462402:C:A
Adipose Visceral Omentumeqtl1.6e-04-0.1317:50426771:A:G
Brain Anterior cingulate cortex BA24eqtl1.6e-04+1.2817:50526414:C:T
Skin Sun Exposed Lower legsqtl2.9e-04+0.2217:50459774:A:G
Skin Not Sun Exposed Suprapubicsqtl2.9e-04-0.3617:50475094:C:G

FANTOM5 promoters

3 alternative TSS:

Promoter IDTPM avgSamples expressed
16166210.02621594
1616616.24921703
1616640.03804

Top tissues by expression

showing 100 of 277 tissues by Bgee expression score (0-100, higher = more expressed):

TissueAnatomy IDExpression scoreQuality
right lobe of thyroid glandUBERON:000111999.00gold quality
right adrenal gland cortexUBERON:003582798.94gold quality
left lobe of thyroid glandUBERON:000112098.78gold quality
right adrenal glandUBERON:000123398.75gold quality
mucosa of transverse colonUBERON:000499198.50gold quality
left adrenal gland cortexUBERON:003582598.49gold quality
left adrenal glandUBERON:000123498.37gold quality
thyroid glandUBERON:000204698.13gold quality
adrenal cortexUBERON:000123597.79gold quality
adult mammalian kidneyUBERON:000008297.61gold quality
adrenal glandUBERON:000236997.44gold quality
skin of abdomenUBERON:000141697.28gold quality
right lobe of liverUBERON:000111496.96gold quality
cerebellar hemisphereUBERON:000224596.69gold quality
skin of legUBERON:000151196.66gold quality
right hemisphere of cerebellumUBERON:001489096.49gold quality
cerebellar cortexUBERON:000212996.46gold quality
rectumUBERON:000105296.06gold quality
body of pancreasUBERON:000115095.90gold quality
olfactory segment of nasal mucosaUBERON:000538695.80gold quality
transverse colonUBERON:000115795.75gold quality
adrenal tissueUBERON:001830395.72gold quality
right ovaryUBERON:000211895.59gold quality
left ovaryUBERON:000211995.54gold quality
right atrium auricular regionUBERON:000663195.52gold quality
hindlimb stylopod muscleUBERON:000425295.13gold quality
small intestine Peyer’s patchUBERON:000345495.05gold quality
nephron tubuleUBERON:000123194.96gold quality
right lungUBERON:000216794.90gold quality
cerebellumUBERON:000203794.70gold quality
kidneyUBERON:000211394.57gold quality
cardiac atriumUBERON:000208194.56gold quality
gastrocnemiusUBERON:000138894.55gold quality
body of stomachUBERON:000116194.37gold quality
zone of skinUBERON:000001494.31gold quality
mucosa of stomachUBERON:000119994.30gold quality
muscle of legUBERON:000138394.23gold quality
kidney epitheliumUBERON:000481994.18gold quality
omental fat padUBERON:001041494.09gold quality
peritoneumUBERON:000235894.02gold quality
upper lobe of left lungUBERON:000895293.99gold quality
metanephros cortexUBERON:001053393.98gold quality
endocervixUBERON:000045893.96gold quality
apex of heartUBERON:000209893.85gold quality
minor salivary glandUBERON:000183093.71gold quality
adipose tissue of abdominal regionUBERON:000780893.67gold quality
ectocervixUBERON:001224993.65gold quality
small intestineUBERON:000210893.58gold quality
cortex of kidneyUBERON:000122593.54gold quality
right uterine tubeUBERON:000130293.35gold quality
sural nerveUBERON:001548893.22gold quality
upper lobe of lungUBERON:000894892.85gold quality
metanephric glomerulusUBERON:000473692.51gold quality
renal glomerulusUBERON:000007492.41gold quality
lower esophagus mucosaUBERON:003583492.33gold quality
stomachUBERON:000094592.24gold quality
metanephrosUBERON:000008192.23gold quality
gall bladderUBERON:000211092.19gold quality
subcutaneous adipose tissueUBERON:000219092.10gold quality
saliva-secreting glandUBERON:000104492.06gold quality
adipose tissueUBERON:000101391.83gold quality
vaginaUBERON:000099691.75gold quality
ovaryUBERON:000099291.67gold quality
tibial nerveUBERON:000132391.41gold quality
intestineUBERON:000016091.33gold quality
granulocyteCL:000009491.22gold quality
liverUBERON:000210791.15gold quality
connective tissueUBERON:000238491.14gold quality
mouth mucosaUBERON:000372990.93gold quality
colonUBERON:000115590.79gold quality
large intestineUBERON:000005990.66gold quality
spleenUBERON:000210690.50gold quality
colonic epitheliumUBERON:000039790.44gold quality
skeletal muscle organUBERON:001489290.21gold quality
muscle organUBERON:000163090.20gold quality
duodenumUBERON:000211490.16gold quality
body of uterusUBERON:000985390.16gold quality
left uterine tubeUBERON:000130390.08gold quality
esophagus mucosaUBERON:000246989.65gold quality
fundus of stomachUBERON:000116089.57gold quality
caudate nucleusUBERON:000187389.37gold quality
prostate glandUBERON:000236789.37gold quality
nucleus accumbensUBERON:000188289.29gold quality
stromal cell of endometriumCL:000225589.06gold quality
calcaneal tendonUBERON:000370188.95gold quality
left coronary arteryUBERON:000162688.69gold quality
putamenUBERON:000187488.67gold quality
heartUBERON:000094888.52gold quality
jejunal mucosaUBERON:000039988.48gold quality
pancreasUBERON:000126487.92gold quality
right frontal lobeUBERON:000281087.89gold quality
descending thoracic aortaUBERON:000234587.88gold quality
urinary bladderUBERON:000125587.82gold quality
amygdalaUBERON:000187687.80gold quality
coronary arteryUBERON:000162187.77gold quality
ascending aortaUBERON:000149687.59gold quality
muscle layer of sigmoid colonUBERON:003580587.51gold quality
thoracic aortaUBERON:000151587.43gold quality
esophagusUBERON:000104387.24gold quality
left ventricle myocardiumUBERON:000656687.21gold quality

Single-cell (SCXA)

Detected in 2 experiment(s), a significant marker in 2.

ExperimentMarker?Max mean expression
E-CURD-119yes61.36
E-ANND-3yes5.71

HPA expression

RNA tissue specificity: Tissue enhanced

showing 60 of 79 HPA tissues / cells by nTPM:

Tissue / cellAxisnTPMProtein (IHC)
Kidneytissue132.8high
Corpus callosumtissue76.8
Spinal cordtissue74.9
Medulla oblongatatissue71.4
Substantia nigratissue69.1
Superior colliculitissue68.2
Periaqueductal graytissue66.3
Midbraintissue65.6
Thalamustissue59.9
Ponstissue59.2
Putamentissue57.2
Hypothalamustissue49.0
Hippocampal formationtissue48.2
Ventral forebraintissue44.2
Septumtissue43.6
Adrenal glandtissue41.3high
Thyroid glandtissue39.9high
Cerebral cortextissue39.2low
Motor cortextissue39.2
Basal gangliatissue39.1not detected
Amygdalatissue38.4
Retrosplenial cortextissue36.9
Entorhinal cortextissue35.7
Olfactory bulbtissue35.0
Occipital cortextissue34.3
Temporal cortextissue34.2
Somatosensory cortextissue34.1
Livertissue34.0low
Insular cortextissue32.8
Retrosplenial and cingulate cortextissue32.7
Prefrontal cortextissue31.8
Skeletal muscletissue30.9not detected
Colontissue25.1high
Tonguetissue24.1
Adipose tissuetissue23.3not detected
Duodenumtissue20.8high
Breasttissue19.8not detected
Small intestinetissue19.0high
Ovarytissue18.0not detected
Cervixtissue17.8low
Cerebellumtissue17.4not detected
Lungtissue16.8low
Heart muscletissue16.6medium
Rectumtissue16.4high
Stomach 1tissue16.3medium
Skin 1tissue16.2low
Seminal vesicletissue15.1high
Salivary glandtissue14.9medium
Epididymistissue14.9medium
Placentatissue14.5high
Caudate putamentissue13.7
Frontal cortextissue13.0
Vaginatissue12.9low
Urinary bladdertissue12.7medium
Gallbladdertissue10.2high
Choroid plexustissue9.4
Parathyroid glandtissue9.3medium
Fallopian tubetissue9.2not detected
Prostatetissue8.4low
Lymph nodetissue8.0medium

Brain sub-regions (HPA Brain Atlas): detected in 191; highest nTPM — White matter (76.8), Ventral spinal cord (74.9), Dorsal spinal cord (70.2), Dorsal hippocampus (48.2), Ventral hippocampus (43.4).

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

Targeting ACSF2 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific).

10 miRNAs:

miRNAMax scoreAvg scoremiRNA target_count
HSA-MIR-96-5P99.9572.802140
HSA-MIR-4731-5P99.8967.232537
HSA-MIR-444799.8567.812900
HSA-MIR-366099.6867.331149
HSA-MIR-452699.6867.071136
HSA-MIR-447299.5666.081478
HSA-MIR-4786-3P99.3668.351390
HSA-MIR-4763-5P98.7563.89854
HSA-MIR-445798.0967.121274
HSA-MIR-10397-5P97.3169.06710

Functional genomics

gnomAD constraint: pLI 6.45e-12, LOEUF 0.844, missense Z 1.9 — population loss-of-function intolerance (pLI ≥ 0.9 = LoF-intolerant; lower LOEUF = more constrained). gnomAD

Regional missense constraint (gnomAD RMC): no regional variation along ENST00000300441 — one region, missense o/e 0.82.

Literature-anchored findings (GeneRIF, showing 1)

  • ACSF2 and lysine lactylation contribute to renal tubule injury in diabetes. (PMID:38676722)

Cross-species orthologs

4 orthologs

OrganismSymbolGene ID
danio_rerioacsf2ENSDARG00000061201
mus_musculusAcsf2ENSMUSG00000076435
rattus_norvegicusAcsf2ENSRNOG00000003330
drosophila_melanogasterAcsf2FBGN0031703

Paralogs (13): ACSM3 (ENSG00000005187), ACSM2B (ENSG00000066813), AACS (ENSG00000081760), ACSS3 (ENSG00000111058), ACSS2 (ENSG00000131069), ACSS1 (ENSG00000154930), AASDH (ENSG00000157426), ACSM1 (ENSG00000166743), ACSM6 (ENSG00000173124), ACSF3 (ENSG00000176715), ACSM5 (ENSG00000183549), ACSM2A (ENSG00000183747), ACSM4 (ENSG00000215009)

Mouse-model phenotypes

Observed phenotypes of the mouse ortholog (MGI:2388287) from MGI (Alliance of Genome Resources) — knockout/mutant phenotypes, ranked by annotation count. 5 distinct phenotype terms.

Mouse phenotype (MP)Records
hyperactivity1
decreased startle reflex1
increased mean corpuscular volume1
increased mean corpuscular hemoglobin1
abnormal sleep behavior1

Additional cross-species homologs

Sequence homologs in species beyond Ensembl Compara’s model organisms, by Diamond local protein alignment (% sequence identity; best hit per species). Lower-identity rows are more distant homologs. The matched accessions’ gene symbols aren’t in biobtree yet, so each row shows the UniProt accession.

OrganismUniProtIdentityMethod
Salmonella enterica subsp. enterica serovar Typhimurium str. LT2P63521100.0%Diamond
Salmonella enterica subsp. enterica serovar TyphiP63522100.0%Diamond
Escherichia coli K-12P69451100.0%Diamond
Escherichia coli CFT073P69452100.0%Diamond
Amycolatopsis sp.Q9EY88100.0%Diamond
Streptomyces sp.S5M744100.0%Diamond
Escherichia coli O157:H7Q8XDR699.5%Diamond
Pongo abeliiQ5R9G997.4%Diamond
Macaca fascicularisQ4R4Z994.1%Diamond
Bos taurusQ17QJ186.3%Diamond
Yersinia pestisQ8ZES980.6%Diamond
Aspergillus fumigatus Af293Q4WR8365.6%Diamond
Histoplasma capsulatumB2KWI364.8%Diamond
Mycobacterium tuberculosis H37RvP9684360.6%Diamond
Rhodococcus jostii RHA1Q0S7V560.6%Diamond
Beauveria bassiana ARSEF 2860J5JLF259.2%Diamond
Aspergillus ustusA0A0C1BUW857.4%Diamond
Aspergillus terreus NIH2624Q0CBN548.7%Diamond
Comamonas testosteroniQ7WSH346.7%Diamond
Aromatoleum aromaticum EbN1Q5P60345.1%Diamond
Bacillus subtilis subsp. subtilis str. 168O3182644.3%Diamond
Aspergillus nidulans FGSC A4Q5B7T443.1%Diamond
Cytospora maliA0A194VTS240.6%Diamond

Genomic neighbors (locus context)

Genes flanking this one on the chromosome (NCBI/Entrez gene neighborhood). Positional context only — some neighbors share regulatory elements (bidirectional promoters, antisense/overlapping transcripts), but chromosomal adjacency is not itself a functional relationship (see Interactions for that).

SymbolTypeEntrez
LRRC59-AS1ncRNA139355235
RSAD1protein-coding55316
LRRC59protein-coding55379
MYCBPAPprotein-coding84073
CHADprotein-coding1101
EPN3protein-coding55040
EME1protein-coding146956
MRPL27protein-coding51264
XYLT2protein-coding64132
SPATA20protein-coding64847

Protein

Protein identifiers

Medium-chain acyl-CoA ligase ACSF2, mitochondrial — Q96CM8 (reviewed: Q96CM8)

All UniProt accessions (7): D6RF15, D6RF87, E7EN53, E9PF16, Q96CM8, H0Y8N1, H0Y8Y5

UniProt curated annotations — full annotation on UniProt →

Function. Acyl-CoA synthases catalyze the initial reaction in fatty acid metabolism, by forming a thioester with CoA. Has some preference toward medium-chain substrates. Plays a role in adipocyte differentiation.

Subcellular location. Mitochondrion.

Induction. By PPARG.

Similarity. Belongs to the ATP-dependent AMP-binding enzyme family.

Isoforms (4)

UniProt IDNamesCanonical?
Q96CM8-11yes
Q96CM8-22
Q96CM8-33
Q96CM8-44

RefSeq proteins (6): NP_001275897, NP_001275898, NP_001275899, NP_001275900, NP_001275901, NP_079425* (*=MANE)

Domains & families (InterPro)

IDNameType
IPR000873AMP-dep_synth/lig_domDomain
IPR020845AMP-binding_CSConserved_site
IPR025110AMP-bd_CDomain
IPR045851AMP-b_sfHomologous_superfamily

Pfam: PF00501, PF13193

Catalyzed reactions (Rhea)

  • octanoate + ATP + CoA = octanoyl-CoA + AMP + diphosphate (RHEA:33631)
  • a medium-chain fatty acid + ATP + CoA = a medium-chain fatty acyl-CoA + AMP + diphosphate (RHEA:48340)

UniProt features (23 total): modified residue 12, binding site 4, splice variant 3, sequence variant 2, transit peptide 1, chain 1

Structure

Predicted structure (AlphaFold)

ModelpLDDTFraction very-high
AF-Q96CM8-F189.400.79

Human Protein Atlas

Protein class: Enzymes, ENZYME proteins, Ligase, Metabolic proteins, Predicted membrane proteins, Predicted intracellular proteins

Protein evidence: Evidence at protein level

Subcellular location (HPA, imaging): cytosol; microtubules; nucleoplasm

Antibody reliability (HPA): IH enhanced · IF uncertain

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 (4)

PositionRole
263–271ATP
493ATP
508ATP
599ATP

Post-translational modifications (12)

TypePositions
N6-acetyllysine398, 510, 544, 570, 179, 182, 340
N6-succinyllysine478, 544, 570, 599, 182

Function

Pathways and Gene Ontology

Reactome pathways

1 curated (TAS) of 4; 0 disease pathways. Curated-first; evidence = TAS (manually curated) vs IEA (electronic inference).

4 pathways:

IDPathwayEvidence
R-HSA-77289Mitochondrial Fatty Acid Beta-Oxidationcurated
R-HSA-8978868Fatty acid metabolism—
R-HSA-1430728Metabolism—
R-HSA-556833Metabolism of lipids—

MSigDB gene sets: 123 (showing top): GOBP_ORGANOPHOSPHATE_METABOLIC_PROCESS, GOBP_LONG_CHAIN_FATTY_ACID_METABOLIC_PROCESS, GOBP_MONOCARBOXYLIC_ACID_METABOLIC_PROCESS, SHEPARD_BMYB_MORPHOLINO_DN, GOBP_NUCLEOBASE_CONTAINING_SMALL_MOLECULE_METABOLIC_PROCESS, MCBRYAN_PUBERTAL_BREAST_4_5WK_DN, GOBP_AMIDE_METABOLIC_PROCESS, MCBRYAN_PUBERTAL_BREAST_3_4WK_UP, DELYS_THYROID_CANCER_DN, HNF4_01, MCBRYAN_PUBERTAL_BREAST_5_6WK_UP, GOZGIT_ESR1_TARGETS_UP, GOBP_LIPID_METABOLIC_PROCESS, GOBP_ORGANIC_ACID_METABOLIC_PROCESS, AACTTT_UNKNOWN

GO Biological Process (4): fatty acid metabolic process (GO:0006631), acyl-CoA metabolic process (GO:0006637), long-chain fatty acid metabolic process (GO:0001676), lipid metabolic process (GO:0006629)

GO Molecular Function (7): long-chain fatty acid-CoA ligase activity (GO:0004467), ATP binding (GO:0005524), medium-chain fatty acid-CoA ligase activity (GO:0031956), nucleotide binding (GO:0000166), catalytic activity (GO:0003824), protein binding (GO:0005515), ligase activity (GO:0016874)

GO Cellular Component (2): mitochondrion (GO:0005739), mitochondrial matrix (GO:0005759)

Reactome top-level categories

3 top-level categories:

CategoryPathways
Fatty acid metabolism1
Metabolism1
Metabolism of lipids1

GO top-level categories

21 GO namespaces:

CategoryTerms
fatty acid-CoA ligase activity2
lipid metabolic process1
monocarboxylic acid metabolic process1
nucleoside phosphate metabolic process1
sulfur compound metabolic process1
purine-containing compound metabolic process1
fatty acid metabolic process1
primary metabolic process1
long-chain fatty acid metabolic process1
adenyl ribonucleotide binding1
purine ribonucleoside triphosphate binding1
anion binding1
nucleoside phosphate binding1
heterocyclic compound binding1
molecular_function1
binding1
catalytic activity1
cytoplasm1
intracellular membrane-bounded organelle1
mitochondrion1
intracellular organelle lumen1

Experimentally-supported GO annotations

GO terms backed by direct experimental evidence (ECO experimental codes) — 2 of 13 annotations. The rest are phylogenetic / computational / electronic (IEA).

2 experimentally-supported GO terms:

GO termNSEvidence
mitochondrionCChigh-throughput
medium-chain fatty acid-CoA ligase activityMFdirect assay

Protein interactions and networks

STRING

showing 15 of 1,965 interactions by confidence (×1000):

Protein AProtein BPartner UniProtScore
ACSF2LIPEQ05469782
ACSF2ATP5MC3P48201710
ACSF2EMC2Q15006623
ACSF2IREB2P48200579
ACSF2RPL8P25120566
ACSF2SLC2A4P14672562
ACSF2AASDHQ4L235519
ACSF2AIFM2Q9BRQ8517
ACSF2CSO75390481
ACSF2GPX4P36969479
ACSF2ACOT13Q9NPJ3476
ACSF2PPARGP37231475
ACSF2HADHAP40939465
ACSF2CISD1Q9NZ45453
ACSF2ZBTB8BQ8NAP8444

IntAct

Human interaction partners of ACSF2 in IntAct, one row per partner (best MIscore; records = supporting IntAct interaction records).

22 partners by confidence:

PartnerInteraction typeMIscoreRecords
ARL6IP1physical association0.8308
CMTM5physical association0.7408
AGTRAPphysical association0.6704
COQ9physical association0.6703
APOA5physical association0.5603
APOC1physical association0.5603
ARL13Bphysical association0.5603
C10orf67physical association0.5603
CLEC10Aphysical association0.5603
DGAT2L6physical association0.5603
GPR152physical association0.5603
MICOS13physical association0.5603
RDH10physical association0.5603
RHBDD2physical association0.5603
SENP2physical association0.5603
SH3GLB1physical association0.5603
SIGLEC12physical association0.5603
SYNGR3physical association0.5603
CREB3physical association0.5503
GNB2physical association0.4001
H1-5physical association0.4001
ORF46physical association0.0001

BioGRID (110 interactions; top human partners by supporting records): ARL6IP1 (Two-hybrid; 3 records), CMTM5 (Two-hybrid; 3 records), ACSM5 (Affinity Capture-MS; 2 records), APOC1 (Two-hybrid; 2 records), MRPL12 (Affinity Capture-MS; 2 records), PPA2 (Affinity Capture-MS; 2 records), SUCLG2 (Co-fractionation; 2 records), USP40 (Two-hybrid; 2 records), ACAA2 (Affinity Capture-MS), ACTB (Co-fractionation), AGTRAP (Two-hybrid), AK4 (Affinity Capture-MS), AMACR (Affinity Capture-MS), ANXA5 (Co-fractionation), APEX1 (Affinity Capture-RNA)

Disease & clinical

Genetic variants

Variant evidence for ACSF2: 166 ClinVar records (1 pathogenic / likely pathogenic); 1 GWAS association. Per-variant detail is on Sugi Variant.

ClinVar

166 variants total. Per-class counts are floors (≥ shown; pagination cap):

ClassificationCount (floor)
Pathogenic1
Likely pathogenic0
Uncertain significance136
Likely benign5
Benign3

Top pathogenic / likely-pathogenic (1)

Showing all 1 pathogenic / likely-pathogenic ClinVar records, ranked by ClinVar review status (expert panel → multiple submitters → single submitter), then by number of submitting labs.

Variant IDHGVSClassificationReviewSubmitters
2692406Single allelePathogeniccriteria provided, single submitter1

Per-variant reference — Sugi Variant

Explore ACSF2’s pathogenic and likely-pathogenic variants individually — each with its ClinVar classification and conditions, applied ACMG criteria (ClinGen expert panel, where curated), the calibrated in-silico predictors (AlphaMissense, REVEL, SaProt, conservation), gnomAD frequency, and the predictor-disagreement QC signal — on Sugi Variant.

SpliceAI

Top 10 splice-impact sites by Δscore (adjacent positions with the same effect merged into one range; 35 predictions of 2,300):

Position(s)EffectΔscoreSites
17:50461631–50461632acceptor_loss1.00004
17:50461684donor_gain1.0000
17:50461687–50461688donor_loss1.00005
17:50462182–50462183acceptor_loss1.00003
17:50462303–50462304donor_loss1.00005
17:50462418–50462419acceptor_loss1.00005
17:50463884donor_gain1.0000
17:50473663–50473664acceptor_loss1.00005
17:50473807–50473808donor_loss1.00005
17:50473882acceptor_gain1.0000

AlphaMissense

964 missense substitutions predicted likely pathogenic (of 4,030 scored), across 306 residues. Top 20 hotspot residues, ranked by the number of likely-pathogenic substitutions (of those reachable by a single-nucleotide change), then by mean score:

ResidueLikely-pathogenic substitutionsMean am_pathogenicityMax am_pathogenicity
D49380.9240.964
H31180.8950.968
F41880.8700.976
H27780.8380.929
E41270.9600.989
F26270.9450.987
F33670.9230.982
F10270.8910.978
W13770.8880.986
M46970.8670.953
W13070.8650.994
F36070.8610.950
N15570.8250.975
N28370.8250.983
W48870.8220.960
F58070.7970.951
W47370.7800.896
D36270.7560.894
E16270.7360.862
G46560.9550.984

HPA cancer prognostics

RNA cancer specificity: Low cancer specificity

Disease associations

OMIM: gene MIM:610465 | disease phenotypes: MIM:166200

GenCC curated gene-disease

Mondo (1): osteogenesis imperfecta type 1 (MONDO:0008146)

Orphanet (2): Osteogenesis imperfecta type 1 (Orphanet:216796), Osteogenesis imperfecta (Orphanet:666)

GWAS associations

1 associations:

StudyTraitp-value
GCST006979_678Heel bone mineral density1e-9

EFO canonical traits (from GWAS)

1 canonical traits:

EFO IDTrait name
EFO:0009270heel bone mineral density

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

PharmGKB: 1 entry (CPIC guideline: no)

CTD chemical–gene interactions

69 total (human), top 30 by PubMed support.

ChemicalActions (top 5)PubMed papers
bisphenol Adecreases expression, increases expression, affects expression, affects cotreatment, increases methylation5
Valproic Acidaffects expression, decreases methylation, affects cotreatment, increases expression5
sodium arsenitedecreases expression, affects cotreatment, increases abundance3
Benzo(a)pyreneaffects methylation, decreases expression, decreases methylation, increases methylation3
Particulate Matterincreases expression, affects cotreatment, decreases expression, increases abundance3
Acetaminophendecreases expression, increases expression2
Air Pollutantsdecreases expression, increases abundance, increases expression2
Arsenicaffects cotreatment, decreases expression, increases abundance2
Dexamethasoneincreases expression, affects cotreatment2
Nickeldecreases expression2
Silicon Dioxidedecreases expression2
Cyclosporinedecreases expression2
aristolochic acid Iincreases expression1
afuresertibincreases expression1
bisphenol Fincreases expression1
triphenyl phosphateaffects expression1
deoxynivalenoldecreases expression1
glycidyl methacrylatedecreases expression1
lead acetatedecreases expression1
2-methyl-4-isothiazolin-3-onedecreases expression1
trichostatin Aincreases expression1
tris(2-butoxyethyl) phosphateaffects expression1
mono-(2-ethylhexyl)phthalateincreases expression1
sulforaphanedecreases expression1
tris(1,3-dichloro-2-propyl)phosphatedecreases expression1
perfluorooctanoic acidincreases expression1
manganese chlorideaffects cotreatment, decreases expression, increases abundance1
cupric chloridedecreases expression1
S-(1,2-dichlorovinyl)cysteineaffects response to substance, increases expression1
isobutyl alcoholaffects cotreatment, increases abundance, increases expression1

Clinical trials (associated diseases)

Via MONDO — disease-level, not drug-specific.

  • Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): osteogenesis imperfecta type 1

About this page

Built deterministically by Sugi Atlas from primary biomedical databases via BioBTree. Every record on this page traces to a primary source. Provided for research and reference, not medical advice or a diagnosis. Data may be incomplete, especially for rare conditions. Consult a qualified clinician.

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v1.12.2
BioBTree
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Sources 94

This page pulls from 94 datasets indexed by BioBTree:

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