ACSBG2

acyl-CoA synthetase bubblegum family member 2, the group of Acyl-CoA synthetase family

Basic information

Region (hg38): 19:6135247-6193094

Links

ENSG00000130377 ∙ NCBI:81616 ∙ OMIM:614363 ∙ HGNC:24174 ∙ Uniprot:Q5FVE4 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the ACSBG2 gene.

• not_specified (92 variants)
• not_provided (6 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ACSBG2 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000030924.5. Only rare variants are included in the table.

In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.

Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.

Effect	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous				3	1	4
missense			88	4	1	93
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	88	7	2

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ACSBG2	protein_coding	protein_coding	ENST00000586696	13	57855

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
1.08e-10	0.915	125324	2	422	125748	0.00169

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.220	351	363	0.968	0.0000189	4405
Missense in Polyphen		129	139.08	0.92754		1730
Synonymous	-1.02	155	140	1.11	0.00000825	1239
Loss of Function	1.94	21	33.0	0.636	0.00000170	383

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0155	0.0154
Ashkenazi Jewish	0.0000992	0.0000992
East Asian	0.000772	0.000761
Finnish	0.0000462	0.0000462
European (Non-Finnish)	0.000493	0.000484
Middle Eastern	0.000772	0.000761
South Asian	0.00268	0.00265
Other	0.00131	0.00130

dbNSFP

Source: dbNSFP

• Function: 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.
• Pathway: Adipocytokine signaling pathway - Homo sapiens (human);Fatty acid degradation - Homo sapiens (human);Fatty acid biosynthesis - Homo sapiens (human);PPAR signaling pathway - Homo sapiens (human);PPAR signaling pathway;stearate biosynthesis;Metabolism of lipids;Fatty acyl-CoA biosynthesis;fatty acid activation;Metabolism;Fatty acid metabolism;γ-linolenate biosynthesis;fatty acid β-oxidation (peroxisome);fatty acid β-oxidation;Synthesis of very long-chain fatty acyl-CoAs (Consensus)

Recessive Scores

• pRec: 0.0908

Intolerance Scores

• loftool: 0.950
• rvis_EVS: 1.72
• rvis_percentile_EVS: 96.48

Haploinsufficiency Scores

• pHI: 0.126
• hipred: N
• hipred_score: 0.173

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.414

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	Medium	Medium	Medium
Cancer	Medium	Medium	Medium

Mouse Genome Informatics

• Gene name: Acsbg2
• Phenotype: skeleton phenotype; behavior/neurological phenotype (the observable actions or reactions of mammalian organisms that are manifested through development and lifespan); normal phenotype

Gene ontology

• Biological process: long-chain fatty acid metabolic process;fatty acid metabolic process;multicellular organism development;spermatogenesis;cell differentiation;long-chain fatty-acyl-CoA biosynthetic process
• Cellular component: cytoplasm;mitochondrion;cytosol;membrane
• Molecular function: long-chain fatty acid-CoA ligase activity;ATP binding;very long-chain fatty acid-CoA ligase activity;acyl-CoA hydrolase activity;decanoate-CoA ligase activity