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Aliases for ACSBG2 Gene

Aliases for ACSBG2 Gene

  • Acyl-CoA Synthetase Bubblegum Family Member 2 2 3 4 5
  • Bubblegum-Related Protein 3 4
  • PRTD-NY3 3 4
  • BGR 3 4
  • Long-Chain-Fatty-Acid--CoA Ligase ACSBG2 3
  • Testicular Tissue Protein Li 8 3
  • Bubblegum Related Protein 2
  • EC 6.2.1.3 4
  • PRTDNY3 3
  • BRGL 3

External Ids for ACSBG2 Gene

Previous GeneCards Identifiers for ACSBG2 Gene

  • GC19P006087
  • GC19P005894

Summaries for ACSBG2 Gene

GeneCards Summary for ACSBG2 Gene

ACSBG2 (Acyl-CoA Synthetase Bubblegum Family Member 2) is a Protein Coding gene. Among its related pathways are Fatty Acyl-CoA Biosynthesis and fatty acid beta-oxidation (peroxisome). Gene Ontology (GO) annotations related to this gene include long-chain fatty acid-CoA ligase activity and acyl-CoA hydrolase activity. An important paralog of this gene is ACSBG1.

UniProtKB/Swiss-Prot for ACSBG2 Gene

  • Mediates activation of long-chain fatty acids for both synthesis of cellular lipids, and degradation via beta-oxidation. Able to activate long-chain fatty acids. Also able to activate very long-chain fatty acids; however, the relevance of such activity is unclear in vivo. Has increased ability to activate oleic and linoleic acid. May play a role in spermatogenesis.

Gene Wiki entry for ACSBG2 Gene

Additional gene information for ACSBG2 Gene

No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ACSBG2 Gene

Genomics for ACSBG2 Gene

GeneHancer (GH) Regulatory Elements for ACSBG2 Gene

Promoters and enhancers for ACSBG2 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
GH19I006135 Promoter 0.6 EPDnew 550.8 +0.4 410 0.1 SCRT2 ACSBG2 GC19P006136 LOC105372255 RFX2
GH19I006137 Promoter 0.5 EPDnew 550.8 +1.9 1933 0.1 ACSBG2 GC19P006136 RFX2 ENSG00000267415 LOC105372255
GH19I006055 Enhancer 1.8 FANTOM5 Ensembl ENCODE dbSUPER 25 -72.8 -72767 13.8 PKNOX1 CLOCK FOXA2 ARNT ARID4B NEUROD1 SIN3A FEZF1 YY1 ZNF766 RFX2 ACSBG2 PRR22 SAFB SNRPEP4 DUS3L SLC25A41 KHSRP CATSPERD DENND1C
GH19I006667 Promoter/Enhancer 2.4 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 16.3 +533.7 533743 3.9 HDGF ZFP64 IRF4 ZNF48 ZNF143 ATF7 RUNX3 PAF1 RXRA JUNB TNFSF14 ACSBG2 ZNF557 GTF2F1 VAV1 DENND1C ADGRE1 GPR108 GC19M006661
GH19I006527 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 16.3 +395.4 395397 6.2 YBX1 IRF4 E2F8 ZNF143 ZNF548 MCM3 SP3 MEF2D ZNF610 GLIS1 TNFSF9 ZNF557 KHSRP DUS3L SAFB2 SAFB SNRPEP4 ENSG00000267571 GTF2F1 RANBP3
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around ACSBG2 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the ACSBG2 gene promoter:

Genomic Locations for ACSBG2 Gene

Genomic Locations for ACSBG2 Gene
chr19:6,135,247-6,193,103
(GRCh38/hg38)
Size:
57,857 bases
Orientation:
Plus strand
chr19:6,135,258-6,193,112
(GRCh37/hg19)

Genomic View for ACSBG2 Gene

Genes around ACSBG2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ACSBG2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ACSBG2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ACSBG2 Gene

Proteins for ACSBG2 Gene

  • Protein details for ACSBG2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q5FVE4-ACBG2_HUMAN
    Recommended name:
    Long-chain-fatty-acid--CoA ligase ACSBG2
    Protein Accession:
    Q5FVE4
    Secondary Accessions:
    • B3KSF2
    • Q6UWJ3
    • Q7Z5A0
    • Q8WW03
    • Q96M36
    • Q9BYZ3
    • Q9H0C4

    Protein attributes for ACSBG2 Gene

    Size:
    666 amino acids
    Molecular mass:
    74354 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=CAE12157.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};

    Alternative splice isoforms for ACSBG2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ACSBG2 Gene

Post-translational modifications for ACSBG2 Gene

No Post-translational modifications

No data available for DME Specific Peptides for ACSBG2 Gene

Domains & Families for ACSBG2 Gene

Gene Families for ACSBG2 Gene

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

Protein Domains for ACSBG2 Gene

Suggested Antigen Peptide Sequences for ACSBG2 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q5FVE4

UniProtKB/Swiss-Prot:

ACBG2_HUMAN :
  • Belongs to the ATP-dependent AMP-binding enzyme family. Bubblegum subfamily.
Family:
  • Belongs to the ATP-dependent AMP-binding enzyme family. Bubblegum subfamily.
genes like me logo Genes that share domains with ACSBG2: view

Function for ACSBG2 Gene

Molecular function for ACSBG2 Gene

UniProtKB/Swiss-Prot CatalyticActivity:
ATP + a long-chain fatty acid + CoA = AMP + diphosphate + an acyl-CoA.
UniProtKB/Swiss-Prot Function:
Mediates activation of long-chain fatty acids for both synthesis of cellular lipids, and degradation via beta-oxidation. Able to activate long-chain fatty acids. Also able to activate very long-chain fatty acids; however, the relevance of such activity is unclear in vivo. Has increased ability to activate oleic and linoleic acid. May play a role in spermatogenesis.

Enzyme Numbers (IUBMB) for ACSBG2 Gene

Phenotypes From GWAS Catalog for ACSBG2 Gene

Gene Ontology (GO) - Molecular Function for ACSBG2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003824 catalytic activity IEA --
GO:0004467 long-chain fatty acid-CoA ligase activity IDA 16371355
GO:0005524 ATP binding IEA --
GO:0016874 ligase activity IEA --
GO:0031957 very long-chain fatty acid-CoA ligase activity TAS --
genes like me logo Genes that share ontologies with ACSBG2: view
genes like me logo Genes that share phenotypes with ACSBG2: view

Animal Models for ACSBG2 Gene

MGI Knock Outs for ACSBG2:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Clone Products

No data available for Human Phenotype Ontology , miRNA , Transcription Factor Targets and HOMER Transcription for ACSBG2 Gene

Localization for ACSBG2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ACSBG2 Gene

Cytoplasm. Membrane; Peripheral membrane protein.

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 ACSBG2 gene
Compartment Confidence
mitochondrion 5
cytosol 5
peroxisome 1
nucleus 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for ACSBG2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IDA 16371355
GO:0005739 mitochondrion IDA 16762313
GO:0005829 cytosol IEA,TAS --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with ACSBG2: view

Pathways & Interactions for ACSBG2 Gene

genes like me logo Genes that share pathways with ACSBG2: view

Interacting Proteins for ACSBG2 Gene

Selected Interacting proteins: Q5FVE4-ACBG2_HUMAN for ACSBG2 Gene via IID

Symbol External ID(s) Details
BANF1
COPS5

Gene Ontology (GO) - Biological Process for ACSBG2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001676 long-chain fatty acid metabolic process IEA --
GO:0006629 lipid metabolic process IEA --
GO:0006631 fatty acid metabolic process IDA 16371355
GO:0007275 multicellular organism development IEA --
GO:0007283 spermatogenesis IEA --
genes like me logo Genes that share ontologies with ACSBG2: view

No data available for SIGNOR curated interactions for ACSBG2 Gene

Drugs & Compounds for ACSBG2 Gene

(6) Drugs for ACSBG2 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Palmitic Acid Approved, Experimental Pharma Full agonist, Agonist 23
Adenosine monophosphate Approved, Investigational Nutra 0
Hexanoyl-CoA Experimental Pharma 0
Propanoyl-CoA Experimental Pharma 0
ATP Investigational Nutra Agonist 0

(32) Additional Compounds for ACSBG2 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
  • (2E)-Dodec-2-enoyl-CoA
  • (2E)-Dodec-2-enoyl-Coenzyme A
  • 2-trans-Dodecenoyl-CoA
  • 2-trans-Dodecenoyl-Coenzyme A
1066-12-2
(2E)-Hexadecenoyl-CoA
  • (2E)-Hexadecenoyl-CoA
  • (2E)-Hexadecenoyl-Coenzyme A
  • trans-2-Hexadecenoyl-CoA
  • trans-2-Hexadecenoyl-Coenzyme A
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-CoA
  • (2E)-Tetradecenoyl-Coenzyme A
  • Trans-tetra-dec-2-enoyl-CoA
  • Trans-tetra-dec-2-enoyl-CoA.
  • Trans-tetra-dec-2-enoyl-Coenzyme A
38795-33-4
genes like me logo Genes that share compounds with ACSBG2: view

Transcripts for ACSBG2 Gene

Unigene Clusters for ACSBG2 Gene

Acyl-CoA synthetase bubblegum family member 2:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for ACSBG2 Gene

No ASD Table

Relevant External Links for ACSBG2 Gene

GeneLoc Exon Structure for
ACSBG2
ECgene alternative splicing isoforms for
ACSBG2

Expression for ACSBG2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for ACSBG2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for ACSBG2 Gene

This gene is overexpressed in Testis (x50.1).

Protein differential expression in normal tissues from HIPED for ACSBG2 Gene

This gene is overexpressed in Heart (28.2), Breast (28.2), and Testis (12.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for ACSBG2 Gene



Protein tissue co-expression partners for ACSBG2 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of ACSBG2 Gene:

ACSBG2

SOURCE GeneReport for Unigene cluster for ACSBG2 Gene:

Hs.465720

mRNA Expression by UniProt/SwissProt for ACSBG2 Gene:

Q5FVE4-ACBG2_HUMAN
Tissue specificity: Testis-specific.
genes like me logo Genes that share expression patterns with ACSBG2: view

Primer Products

No data available for Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for ACSBG2 Gene

Orthologs for ACSBG2 Gene

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

Orthologs for ACSBG2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia ACSBG2 33 34
  • 99.05 (n)
dog
(Canis familiaris)
Mammalia ACSBG2 33 34
  • 81.15 (n)
cow
(Bos Taurus)
Mammalia ACSBG2 33 34
  • 78.75 (n)
rat
(Rattus norvegicus)
Mammalia Acsbg2 33
  • 74.56 (n)
mouse
(Mus musculus)
Mammalia Acsbg2 33 16 34
  • 72.99 (n)
oppossum
(Monodelphis domestica)
Mammalia -- 34
  • 57 (a)
ManyToMany
platypus
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 53 (a)
ManyToMany
chicken
(Gallus gallus)
Aves ACSBG2 33 34
  • 62.03 (n)
tropical clawed frog
(Silurana tropicalis)
Amphibia acsbg2 33
  • 61.61 (n)
Str.6052 33
African clawed frog
(Xenopus laevis)
Amphibia MGC53673 33
zebrafish
(Danio rerio)
Actinopterygii acsbg2 33 34
  • 62.59 (n)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.3252 33
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP008596 33
  • 53.05 (n)
fruit fly
(Drosophila melanogaster)
Insecta bgm 33 34
  • 51.5 (n)
CG4500 34
  • 36 (a)
ManyToMany
worm
(Caenorhabditis elegans)
Secernentea acs-18 34
  • 20 (a)
ManyToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes FAA2 34
  • 19 (a)
OneToMany
Species where no ortholog for ACSBG2 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)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • 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)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • 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 ACSBG2 Gene

ENSEMBL:
Gene Tree for ACSBG2 (if available)
TreeFam:
Gene Tree for ACSBG2 (if available)

Paralogs for ACSBG2 Gene

Paralogs for ACSBG2 Gene

(1) SIMAP similar genes for ACSBG2 Gene using alignment to 7 proteins:

Pseudogenes.org Pseudogenes for ACSBG2 Gene

genes like me logo Genes that share paralogs with ACSBG2: view

Variants for ACSBG2 Gene

Sequence variations from dbSNP and Humsavar for ACSBG2 Gene

SNP ID Clin Chr 19 pos Variation AA Info Type
rs1000060202 -- 6,179,983(+) A/C intron_variant
rs1000216083 -- 6,172,658(+) A/G intron_variant
rs1000240989 -- 6,141,916(+) A/G genic_upstream_transcript_variant, intron_variant
rs1000294206 -- 6,169,490(+) G/T intron_variant
rs1000318553 -- 6,142,482(+) G/A genic_upstream_transcript_variant, intron_variant

Structural Variations from Database of Genomic Variants (DGV) for ACSBG2 Gene

Variant ID Type Subtype PubMed ID
nsv956605 CNV deletion 24416366
nsv956599 CNV deletion 24416366
nsv1154136 CNV deletion 26484159
nsv1134747 CNV deletion 24896259
esv3555943 CNV deletion 23714750
esv3187 CNV loss 18987735
esv2718061 CNV deletion 23290073
esv2718060 CNV deletion 23290073
esv2675978 CNV deletion 23128226
esv2543418 CNV deletion 19546169
esv2458578 CNV deletion 19546169
esv2154244 CNV deletion 18987734
dgv1699n106 CNV deletion 24896259
dgv1698n106 CNV deletion 24896259

Variation tolerance for ACSBG2 Gene

Residual Variation Intolerance Score: 96.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 7.16; 80.76% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for ACSBG2 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
ACSBG2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ACSBG2 Gene

Disorders for ACSBG2 Gene

Additional Disease Information for ACSBG2

No disorders were found for ACSBG2 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for ACSBG2 Gene

Publications for ACSBG2 Gene

  1. A novel mammalian bubblegum-related acyl-CoA synthetase restricted to testes and possibly involved in spermatogenesis. (PMID: 16762313) Fraisl P … Berger J (Archives of biochemistry and biophysics 2006) 3 4 22 58
  2. Identification and characterization of the BGR-like gene with a potential role in human testicular development/spermatogenesis. (PMID: 15685348) Zheng Y … Sha JH (Asian journal of andrology 2005) 3 4 22 58
  3. Toward a catalog of human genes and proteins: sequencing and analysis of 500 novel complete protein coding human cDNAs. (PMID: 11230166) Wiemann S … Poustka A (Genome research 2001) 2 3 4 58
  4. The second member of the human and murine bubblegum family is a testis- and brainstem-specific acyl-CoA synthetase. (PMID: 16371355) Pei Z … Watkins PA (The Journal of biological chemistry 2006) 3 4 58
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 58

Products for ACSBG2 Gene

Sources for ACSBG2 Gene

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