Hs02883444_cn

• Gene Symbol: ACACB
• Assay Reference Genome Location: Chr.12:109139805 on build GRCh38
• Cytoband: 12q24.11

Target Gene Details

• Entrez Gene ID: 32
• Gene Name: acetyl-CoA carboxylase beta
• Gene Aliases: ACC2, ACCB, HACC275
• Location: Chr.12:109112666-109268226 on Build GRCh38
• Assay Gene Location: Within Exon 3

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
ACACB	NM_001093.3	1	409	NP_001084.3
	XM_005253876.4	2	519	XP_005253933.1
	XM_011538259.2	2	1157	XP_011536561.1
	XM_011538263.2	2	1157	XP_011536565.1
	XM_011538264.2			XP_011536566.1
	XM_011538265.2	2	1159	XP_011536567.1
	AJ575431.2	1	400	CAE01470.2
	AJ575592.3	1	400	CAE01471.3
	AY382667.1	2	519	AAR37018.1
	DQ493870.1	1	400
	U89344.1	1	400	AAB58382.1

Target Copy Number Variation Details

• DGV Version: Release date: 2016-05-15, GRCh GRCh38

Target Variation	Location	CNV Subtype	Genes
nsv528323	Chr.12:109115044 - 109225776 on Build GRCh38	Gain	ACACB LOC105369974
dgv1553n100	Chr.12:109064624 - 109159352 on Build GRCh38	Gain	ALKBH2 ACACB LOC105369974 USP30 UNG
nsv526593	Chr.12:109131263 - 109140147 on Build GRCh38	Loss	ACACB LOC105369974
dgv1554n100	Chr.12:109104860 - 109232663 on Build GRCh38	Gain	ACACB LOC105369974 UNG

More Information

• Set Membership: Intragenic, Exonic, DGV Variation

Gene Ontology Categories:

Process(es)

acetyl-CoA metabolic process
fatty acid biosynthetic process
biotin metabolic process
carnitine shuttle
negative regulation of gene expression
positive regulation of lipid storage
regulation of glucose metabolic process
positive regulation of cellular metabolic process
response to nutrient levels
negative regulation of fatty acid beta-oxidation
negative regulation of catalytic activity
protein homotetramerization
positive regulation of heart growth
energy homeostasis
malonyl-CoA biosynthetic process

Function(s)

acetyl-CoA carboxylase activity
biotin carboxylase activity
protein binding
ATP binding
metal ion binding