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
  • 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 54
  • EC 6.2.1.2 4
  • EC 6.2.1 54
  • AVYV493 3
  • ACSMW 3

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 Fatty Acyl-CoA Biosynthesis. Gene Ontology (GO) annotations related to this gene include ligase activity. An important paralog of this gene is ACSF3.

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 for ACSF2 Gene

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 759.3 +0.8 835 6.9 SIN3A LCORL MLX RBPJ POLR2A USF2 NR2F1 NR2F6 ATF1 CREB1 ACSF2 ENSG00000262837 RSAD1 FAM117A MBTD1 XYLT2 EME1 CHAD ENSG00000253102 LRRC59
GH17J050468 Promoter/Enhancer 0.6 EPDnew dbSUPER 750.3 +42.2 42166 0.1 MAX CHAD ACSF2 HSALNG0117299
GH17J050477 Promoter/Enhancer 2.4 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 13 +52.8 52823 2.4 ZNF24 ZBTB40 CTCF SREBF1 ZBTB6 MLX RBPJ POLR2A HCFC1 MYC RSAD1 lnc-CHAD-1 piR-58345 LUC7L3 MBTD1 KAT7 ACSF2 EME1 UTP18 CHAD
GH17J050458 Enhancer 1.3 Ensembl ENCODE dbSUPER 23.8 +32.6 32643 2.4 ZBTB6 FOXA1 MLX NR2F6 CREB1 HLF RAD21 ELF3 SP1 CEBPG RF00017-2443 ACSF2 RSAD1 CHAD SPATA20 HSALNG0117299
GH17J050451 Enhancer 0.8 ENCODE dbSUPER 35.2 +26.6 26643 2.2 MYC MAX ZNF547 IKZF1 IKZF2 CTBP1 CEBPB JUN RCOR1 MXI1 ACSF2 ENSG00000253102 MYCBPAP EPN3 ENSG00000250286 SPATA20 ANKRD40 MRPS21P9 RF00017-2443
- 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 UCSC Golden Path with GeneCards custom track

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 membrane proteins
  • Predicted secreted proteins

Protein Domains for ACSF2 Gene

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=. ;.
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=. ;.
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:0003824 catalytic activity IEA --
GO:0003996 acyl-CoA ligase activity TAS --
GO:0005515 protein binding IPI 21516116
GO:0005524 ATP binding IEA --
GO:0016874 ligase activity 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

Clone Products

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 4
cytosol 2
cytoskeleton 1
peroxisome 1
nucleus 1
plasma membrane 0
extracellular 0

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 --
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

CRISPR Products

Clone Products

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
ECgene alternative splicing isoforms for
ACSF2

Expression for ACSF2 Gene

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

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

NURSA nuclear receptor signaling pathways regulating expression of ACSF2 Gene:

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(4.8)
  • Liver(4.3)
  • Skin(4.3)
genes like me logo Genes that share expression patterns with ACSF2: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , 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 33 32
  • 99.43 (n)
OneToOne
cow
(Bos Taurus)
Mammalia ACSF2 33 32
  • 87.15 (n)
OneToOne
dog
(Canis familiaris)
Mammalia ACSF2 33 32
  • 86.02 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Acsf2 32
  • 82.82 (n)
mouse
(Mus musculus)
Mammalia Acsf2 17 33 32
  • 82.55 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia -- 33
  • 71 (a)
OneToMany
-- 33
  • 67 (a)
OneToMany
oppossum
(Monodelphis domestica)
Mammalia ACSF2 33
  • 63 (a)
OneToOne
chicken
(Gallus gallus)
Aves ACSF2 33 32
  • 66.43 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ACSF2 33
  • 60 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia acsf2 32
  • 62.66 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.16511 32
zebrafish
(Danio rerio)
Actinopterygii acsf2 33 32
  • 60.62 (n)
OneToOne
wufi49b09 32
fruit fly
(Drosophila melanogaster)
Insecta CG12512 33 32
  • 52.62 (n)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP008557 32
  • 52.5 (n)
worm
(Caenorhabditis elegans)
Secernentea acs-1 33 32
  • 50.85 (n)
OneToMany
acs-2 33
  • 38 (a)
OneToMany
acs-14 33
  • 26 (a)
OneToMany
acs-7 33
  • 25 (a)
OneToMany
acs-9 33
  • 24 (a)
OneToMany
acs-6 33
  • 22 (a)
OneToMany
acs-10 33
  • 22 (a)
OneToMany
mec-18 33
  • 18 (a)
OneToMany
acs-12 33
  • 18 (a)
OneToMany
bread mold
(Neurospora crassa)
Ascomycetes NCU06063 32
  • 48.77 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 33
  • 26 (a)
OneToMany
Species where no ortholog for ACSF2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya 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 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 from dbSNP and Humsavar for ACSF2 Gene

SNP ID Clin Chr 17 pos Variation AA Info Type
rs1000126054 -- 50,439,121(+) A/C genic_upstream_transcript_variant, intron_variant
rs1000216443 -- 50,438,820(+) G/A genic_upstream_transcript_variant, intron_variant
rs1000336505 -- 50,473,151(+) C/A/T genic_downstream_transcript_variant, intron_variant
rs1000378435 -- 50,426,385(+) C/G 5_prime_UTR_variant, coding_sequence_variant, genic_upstream_transcript_variant, missense_variant, non_coding_transcript_variant
rs1000531912 -- 50,449,079(+) C/T genic_upstream_transcript_variant, intron_variant

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

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 56
  2. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson SL … O'Brien SJ (PloS one 2010) 3 43 56
  3. Identification of novel PPARgamma target genes in primary human adipocytes. (PMID: 16380219) Perera RJ … Dean NM (Gene 2006) 3 4 56
  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 56
  5. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 56

Products for ACSF2 Gene

Sources for ACSF2 Gene