Gene Gene information from NCBI Gene database.
Entrez ID 348158
Gene name Acyl-CoA synthetase medium chain family member 2B
Gene symbol ACSM2B
Synonyms (NCBI Gene)
ACSM2HXMAHYST1046
Chromosome 16
Chromosome location 16p12.3
miRNA miRNA information provided by mirtarbase database.
148
miRTarBase ID miRNA Experiments Reference
MIRT619970 hsa-miR-4797-5p HITS-CLIP 23313552
MIRT619969 hsa-miR-6847-5p HITS-CLIP 23313552
MIRT619968 hsa-miR-3177-5p HITS-CLIP 23313552
MIRT619967 hsa-miR-6867-5p HITS-CLIP 23313552
MIRT684886 hsa-miR-3191-5p HITS-CLIP 23313552
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
25
GO ID Ontology Definition Evidence Reference
GO:0000166 Function Nucleotide binding IEA
GO:0004321 Function Fatty-acyl-CoA synthase activity IBA
GO:0005515 Function Protein binding IPI 32296183
GO:0005524 Function ATP binding IEA
GO:0005739 Component Mitochondrion HTP 34800366
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
614359 30931 ENSG00000066813
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q68CK6
Protein name Acyl-coenzyme A synthetase ACSM2B, mitochondrial (EC 6.2.1.2) (Acyl-CoA synthetase medium-chain family member 2B) (Benzoate--CoA ligase) (EC 6.2.1.25) (Butyrate--CoA ligase 2B) (Butyryl-coenzyme A synthetase 2B) (Middle-chain acyl-CoA synthetase 2B) (Xeno
Protein function Catalyzes the activation of fatty acids by CoA to produce an acyl-CoA, the first step in fatty acid metabolism (PubMed:10434065, PubMed:12616642). Capable of activating medium-chain fatty acids (e.g. butyric (C4) to decanoic (C10) acids), and ce
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00501 AMP-binding 58 469 AMP-binding enzyme Family
PF13193 AMP-binding_C 477 557 AMP-binding enzyme C-terminal domain Domain
Tissue specificity TISSUE SPECIFICITY: Detected in liver. {ECO:0000269|PubMed:10434065, ECO:0000269|PubMed:19634011}.
Sequence
Sequence length 577
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Butanoate metabolism
Metabolic pathways
  Conjugation of salicylate with glycine
Conjugation of benzoate with glycine
Conjugation of phenylacetate with glutamine
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
4
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
ASTROCYTOMA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CENTRAL NERVOUS SYSTEM CANCER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
GLIOMA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
GOUT GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations