Aliases for ACSF2 Gene

Aliases for ACSF2 Gene

  • Acyl-CoA Synthetase Family Member 2 2 3 5
  • Medium-Chain Acyl-CoA Ligase ACSF2, Mitochondrial 3 4
  • ACSMW 2 3
  • PPARG Binding, Long Chain Fatty Acid Acyl Co-A Ligase Like 3
  • Acyl-CoA Synthetase Family Member 2, Mitochondrial 3
  • EC 6.2.1.26 51
  • EC 6.2.1.2 4
  • FLJ20920 2
  • EC 6.2.1 51
  • AVYV493 3
  • ACSF2 5

External Ids for ACSF2 Gene

Previous GeneCards Identifiers for ACSF2 Gene

  • GC17P045859
  • GC17P048503
  • GC17P043871

Summaries for ACSF2 Gene

GeneCards Summary for ACSF2 Gene

ACSF2 (Acyl-CoA Synthetase Family Member 2) is a Protein Coding gene. Among its related pathways are Metabolism and Mitochondrial LC-Fatty Acid Beta-Oxidation. Gene Ontology (GO) annotations related to this gene include ligase activity. An important paralog of this gene is ACSM4.

UniProtKB/Swiss-Prot Summary for ACSF2 Gene

  • Acyl-CoA synthases catalyze the initial reaction in fatty acid metabolism, by forming a thioester with CoA (PubMed:17762044). Has some preference toward medium-chain substrates (PubMed:17762044). Plays a role in adipocyte differentiation (PubMed:16380219).

Additional gene information for ACSF2 Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for ACSF2 Gene

Genomics for ACSF2 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for ACSF2 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH17J050423 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE CraniofacialAtlas 609.3 +0.8 835 6.9 CREB1 GATAD2A CTCF ZBTB33 REST TFE3 SOX13 NFKBIZ ZNF692 RCOR2 ACSF2 MBTD1 ENSG00000262837 RSAD1 UTP18 XYLT2 CHAD ENSG00000253102 FAM117A LRRC59
GH17J050468 Promoter/Enhancer 0.7 EPDnew dbSUPER 600.3 +42.2 42166 0.1 MAX EZH2 CHAD ACSF2 HSALNG0117299
GH17J050477 Promoter/Enhancer 2.4 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 13 +52.8 52823 2.4 HNRNPL GATAD2A CTCF TEAD4 ZNF629 TFE3 IKZF1 ZNF692 POLR2A RCOR2 RSAD1 lnc-CHAD-1 piR-58345 MBTD1 LUC7L3 ENSG00000262837 ACSF2 KAT7 ENSG00000250751 UTP18
GH17J050458 Enhancer 1.3 Ensembl ENCODE dbSUPER 23.8 +32.6 32643 2.4 GATAD2A PRDM10 ZNF629 ZNF692 RCOR2 ZNF7 JUND RXRB PATZ1 SP1 RF00017-2445 ACSF2 RSAD1 CHAD SPATA20 HSALNG0117299
GH17J050451 Enhancer 0.8 ENCODE dbSUPER 35.2 +26.6 26643 2.2 IKZF2 EED RUNX3 CTBP1 CEBPB JUN RCOR1 MAX MXI1 EP300 ACSF2 ENSG00000253102 MYCBPAP EPN3 ENSG00000250286 SPATA20 ANKRD40 MRPS21P9 RF00017-2445 CHAD
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around ACSF2 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for ACSF2

Top Transcription factor binding sites by QIAGEN in the ACSF2 gene promoter:
  • COUP
  • COUP-TF
  • COUP-TF1
  • FOXO1
  • FOXO1a
  • FOXO4
  • HNF-4alpha1
  • HNF-4alpha2
  • Pax-4a
  • RORalpha2

Genomic Locations for ACSF2 Gene

Genomic Locations for ACSF2 Gene
chr17:50,426,158-50,474,845
(GRCh38/hg38)
Size:
48,688 bases
Orientation:
Plus strand
chr17:48,503,519-48,552,206
(GRCh37/hg19)
Size:
48,688 bases
Orientation:
Plus strand

Genomic View for ACSF2 Gene

Genes around ACSF2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ACSF2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ACSF2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ACSF2 Gene

Proteins for ACSF2 Gene

  • Protein details for ACSF2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q96CM8-ACSF2_HUMAN
    Recommended name:
    Medium-chain acyl-CoA ligase ACSF2, mitochondrial
    Protein Accession:
    Q96CM8
    Secondary Accessions:
    • B4DFQ6
    • B4DHT5
    • B4DUF5
    • Q9H7G2

    Protein attributes for ACSF2 Gene

    Size:
    615 amino acids
    Molecular mass:
    68125 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for ACSF2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ACSF2 Gene

Selected DME Specific Peptides for ACSF2 Gene

Q96CM8:
  • FNGKKALEAISRE
  • GDRLGMWGPN
  • VFPKQFKTQQYY
  • PKGATLSH
  • APPELIRAII
  • EDTVEQKAESVGR
  • RMGEEICACIRLK
  • ENSPVTF
  • SVGRIMPHTEA
  • PLYHCLGSV
  • GGENIYPA
  • IRGYCVM
  • DPINIQFTSGTTG

Post-translational modifications for ACSF2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Domains & Families for ACSF2 Gene

Gene Families for ACSF2 Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins
  • Predicted membrane proteins

Protein Domains for ACSF2 Gene

InterPro:
Blocks:
  • AMP-binding signature
ProtoNet:

Suggested Antigen Peptide Sequences for ACSF2 Gene

GenScript: Design optimal peptide antigens:
  • Acyl-CoA synthetase family member 2, mitochondrial (ACSF2_HUMAN)
  • cDNA FLJ51819, weakly similar to Long-chain-fatty-acid--CoA ligase (EC 6.2.1.3) (B4DFQ6_HUMAN)
  • cDNA FLJ54351, weakly similar to Long-chain-fatty-acid--CoA ligase (EC 6.2.1.3) (B4DHT5_HUMAN)
  • cDNA FLJ50687, weakly similar to Long-chain-fatty-acid--CoA ligase (EC 6.2.1.3) (B4DUF5_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q96CM8

UniProtKB/Swiss-Prot:

ACSF2_HUMAN :
  • Belongs to the ATP-dependent AMP-binding enzyme family.
Family:
  • Belongs to the ATP-dependent AMP-binding enzyme family.
genes like me logo Genes that share domains with ACSF2: view

Function for ACSF2 Gene

Molecular function for ACSF2 Gene

UniProtKB/Swiss-Prot Function:
Acyl-CoA synthases catalyze the initial reaction in fatty acid metabolism, by forming a thioester with CoA (PubMed:17762044). Has some preference toward medium-chain substrates (PubMed:17762044). Plays a role in adipocyte differentiation (PubMed:16380219).
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=a medium chain fatty acid + ATP + CoA = a medium-chain fatty acyl-CoA + AMP + diphosphate; Xref=Rhea:RHEA:48340, ChEBI:CHEBI:30616, ChEBI:CHEBI:33019, ChEBI:CHEBI:57287, ChEBI:CHEBI:59558, ChEBI:CHEBI:90546, ChEBI:CHEBI:456215; EC=6.2.1.2; Evidence={ECO:0000269|PubMed:17762044};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=ATP + CoA + octanoate = AMP + diphosphate + octanoyl-CoA; Xref=Rhea:RHEA:33631, ChEBI:CHEBI:25646, ChEBI:CHEBI:30616, ChEBI:CHEBI:33019, ChEBI:CHEBI:57287, ChEBI:CHEBI:57386, ChEBI:CHEBI:456215; Evidence={ECO:0000269|PubMed:17762044};.
UniProtKB/Swiss-Prot Induction:
By PPARG.

Enzyme Numbers (IUBMB) for ACSF2 Gene

Phenotypes From GWAS Catalog for ACSF2 Gene

Gene Ontology (GO) - Molecular Function for ACSF2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000166 nucleotide binding IEA --
GO:0003824 catalytic activity IEA --
GO:0003996 acyl-CoA ligase activity TAS --
GO:0005515 protein binding IPI 21516116
GO:0005524 ATP binding IEA --
genes like me logo Genes that share ontologies with ACSF2: view
genes like me logo Genes that share phenotypes with ACSF2: view

Animal Models for ACSF2 Gene

MGI Knock Outs for ACSF2:
  • Acsf2 Acsf2<tm1.1(KOMP)Vlcg>

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ACSF2

No data available for Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for ACSF2 Gene

Localization for ACSF2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ACSF2 Gene

Mitochondrion.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for ACSF2 gene
Compartment Confidence
mitochondrion 5
cytosol 3
cytoskeleton 2
peroxisome 2
nucleus 2
plasma membrane 1
extracellular 1
endoplasmic reticulum 1
lysosome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (2)
  • Microtubules (2)
  • Nucleoplasm (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for ACSF2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion IEA --
GO:0005759 mitochondrial matrix TAS --
genes like me logo Genes that share ontologies with ACSF2: view

Pathways & Interactions for ACSF2 Gene

genes like me logo Genes that share pathways with ACSF2: view

Gene Ontology (GO) - Biological Process for ACSF2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006629 lipid metabolic process IEA --
GO:0006631 fatty acid metabolic process IEA,IBA 21873635
GO:0006637 acyl-CoA metabolic process TAS --
genes like me logo Genes that share ontologies with ACSF2: view

No data available for SIGNOR curated interactions for ACSF2 Gene

Drugs & Compounds for ACSF2 Gene

(2) Drugs for ACSF2 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Hexanoyl-CoA Experimental Pharma 0
Propanoyl-CoA Experimental Pharma 0

(30) Additional Compounds for ACSF2 Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
(2E)-Decenoyl-CoA
  • (e)-S-2-Decenoate
  • (e)-S-2-Decenoate CoA
  • (e)-S-2-Decenoate coenzyme A
  • (e)-S-2-Decenoic acid
  • 2-trans-Decenoyl-CoA
10018-95-8
(2E)-Dodecenoyl-CoA
1066-12-2
(2E)-Hexadecenoyl-CoA
  • (e)-C16:1 N-14-CoA
  • (e)-Hexadec-2-enoyl-CoA tetraanion
  • (e)-Hexadec-2-enoyl-coenzyme A tetraanion
  • (e)-Hexadec-2-enoyl-coenzyme A(4-)
  • trans-2-Hexadecenoyl-CoA(4-)
4460-95-1
(2E)-Octenoyl-CoA
  • (e)-S-2-Octenoate
  • (e)-S-2-Octenoate CoA
  • (e)-S-2-Octenoate coenzyme A
  • (e)-S-2-Octenoic acid
  • 2,3-trans-Octenoyl coenzyme A
10018-94-7
(2E)-Tetradecenoyl-CoA
  • (2E)-Tetradecenoyl-coenzyme A
  • trans-Tetra-dec-2-enoyl-CoA
  • trans-Tetra-dec-2-enoyl-coa.
  • trans-Tetra-dec-2-enoyl-coenzyme A
  • trans-Tetra-dec-2-enoyl-coenzyme A.
38795-33-4
genes like me logo Genes that share compounds with ACSF2: view

Transcripts for ACSF2 Gene

mRNA/cDNA for ACSF2 Gene

6 REFSEQ mRNAs :
15 NCBI additional mRNA sequence :
25 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ACSF2

Alternative Splicing Database (ASD) splice patterns (SP) for ACSF2 Gene

ExUns: 1a · 1b · 1c ^ 2 ^ 3a · 3b ^ 4a · 4b ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10a · 10b · 10c ^ 11a · 11b ^ 12a · 12b ^ 13 ^ 14a · 14b ^ 15a · 15b
SP1: - - -
SP2: - - - -
SP3: - - -
SP4:
SP5: - -
SP6: -
SP7:
SP8:
SP9:

Relevant External Links for ACSF2 Gene

GeneLoc Exon Structure for
ACSF2

Expression for ACSF2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for ACSF2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for ACSF2 Gene

This gene is overexpressed in Kidney - Cortex (x6.4) and Adrenal Gland (x4.9).

Protein differential expression in normal tissues from HIPED for ACSF2 Gene

This gene is overexpressed in Kidney (21.9) and Adrenal (12.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for ACSF2 Gene



Protein tissue co-expression partners for ACSF2 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for ACSF2

SOURCE GeneReport for Unigene cluster for ACSF2 Gene:

Hs.288959

Evidence on tissue expression from TISSUES for ACSF2 Gene

  • Kidney(4.9)
  • Nervous system(4.9)
  • Liver(4.5)
  • Skin(4.4)
  • Heart(2.3)
  • Intestine(2.2)
  • Muscle(2)
genes like me logo Genes that share expression patterns with ACSF2: view

No data available for mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for ACSF2 Gene

Orthologs for ACSF2 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for ACSF2 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia ACSF2 30 31
  • 99.43 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia ACSF2 30 31
  • 87.15 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia ACSF2 30 31
  • 86.02 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Acsf2 30
  • 82.82 (n)
Mouse
(Mus musculus)
Mammalia Acsf2 30 17 31
  • 82.55 (n)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia -- 31
  • 71 (a)
OneToMany
-- 31
  • 67 (a)
OneToMany
Oppossum
(Monodelphis domestica)
Mammalia ACSF2 31
  • 63 (a)
OneToOne
Chicken
(Gallus gallus)
Aves ACSF2 30 31
  • 66.43 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia ACSF2 31
  • 60 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia acsf2 30
  • 62.66 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.16511 30
Zebrafish
(Danio rerio)
Actinopterygii acsf2 30 31
  • 60.62 (n)
OneToOne
wufi49b09 30
Fruit Fly
(Drosophila melanogaster)
Insecta CG12512 30 31
  • 52.62 (n)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP008557 30
  • 52.5 (n)
Worm
(Caenorhabditis elegans)
Secernentea acs-1 30 31
  • 50.85 (n)
OneToMany
acs-2 31
  • 38 (a)
OneToMany
acs-14 31
  • 26 (a)
OneToMany
acs-7 31
  • 25 (a)
OneToMany
acs-9 31
  • 24 (a)
OneToMany
acs-6 31
  • 22 (a)
OneToMany
acs-10 31
  • 22 (a)
OneToMany
mec-18 31
  • 18 (a)
OneToMany
acs-12 31
  • 18 (a)
OneToMany
Bread mold
(Neurospora crassa)
Ascomycetes NCU06063 30
  • 48.77 (n)
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 26 (a)
OneToMany
Species where no ortholog for ACSF2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)

Evolution for ACSF2 Gene

ENSEMBL:
Gene Tree for ACSF2 (if available)
TreeFam:
Gene Tree for ACSF2 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for ACSF2: view image

Paralogs for ACSF2 Gene

genes like me logo Genes that share paralogs with ACSF2: view

Variants for ACSF2 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for ACSF2 Gene

SNP ID Clinical significance and condition Chr 17 pos Variation AA Info Type
727559 Benign: not provided 50,468,243(+) G/C MISSENSE_VARIANT,INTRON_VARIANT
778715 Benign: not provided 50,468,138(+) G/A SYNONYMOUS_VARIANT,INTRON_VARIANT
778716 Benign: not provided 50,468,741(+) G/T MISSENSE_VARIANT,INTRON_VARIANT
779024 Benign: not provided 50,465,329(+) G/A MISSENSE_VARIANT,INTRON_VARIANT
786655 Benign: not provided 50,465,331(+) G/A SYNONYMOUS_VARIANT,INTRON_VARIANT

Additional dbSNP identifiers (rs#s) for ACSF2 Gene

Structural Variations from Database of Genomic Variants (DGV) for ACSF2 Gene

Variant ID Type Subtype PubMed ID
nsv2080 CNV deletion 18451855
nsv2081 CNV deletion 18451855
nsv833476 CNV loss 17160897
nsv952340 CNV deletion 24416366

Variation tolerance for ACSF2 Gene

Residual Variation Intolerance Score: 19.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.45; 54.80% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for ACSF2 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
ACSF2

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ACSF2 Gene

Disorders for ACSF2 Gene

Additional Disease Information for ACSF2

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform

No disorders were found for ACSF2 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for ACSF2 Gene

Publications for ACSF2 Gene

  1. Evidence for 26 distinct acyl-coenzyme A synthetase genes in the human genome. (PMID: 17762044) Watkins PA … Pevsner J (Journal of lipid research 2007) 2 3 4
  2. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson SL … O'Brien SJ (PloS one 2010) 3 41
  3. Identification of novel PPARgamma target genes in primary human adipocytes. (PMID: 16380219) Perera RJ … Dean NM (Gene 2006) 3 4
  4. The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment. (PMID: 12975309) Clark HF … Gray A (Genome research 2003) 3 4
  5. A reference map of the human binary protein interactome. (PMID: 32296183) Luck K … Calderwood MA (Nature 2020) 3

Products for ACSF2 Gene

Sources for ACSF2 Gene