Hs01233799_cn

• Gene Symbol: MCCC2
• Assay Reference Genome Location: Chr.5:71596326 on build GRCh38
• Cytoband: 5q13.2

Target Gene Details

• Entrez Gene ID: 64087
• Gene Name: methylcrotonoyl-CoA carboxylase 2
• Gene Aliases: MCCB
• Location: Chr.5:71587288-71658706 on Build GRCh38
• Assay Gene Location: Overlaps Exon 3 - Intron 3

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
MCCC2	NM_022132.4			NP_071415.1
	XM_005248567.1			XP_005248624.1
	XM_011543529.2			XP_011541831.1
	XM_017009688.1			XP_016865177.1
	AB050049.1			BAB16880.1
	AF261884.1			AAK49409.1
	AF301000.1			AAK16404.1
	AF310971.1			AAG53094.1
	AK310194.1
	BC014897.1			AAH14897.1
	BC065027.1			AAH65027.1
	KU178741.1
	KU178742.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv830340	Chr.5:71501286 - 71671283 on Build GRCh38	Loss	MCCC2 BDP1
nsv1034703	Chr.5:71095346 - 71699868 on Build GRCh38	Gain	LOC107986353 MCCC2 GUSBP9 PMCHL2 LOC102724392 BDP1 LOC107986352 GTF2H2

More Information

• Set Membership: Intragenic, Non-exonic, DGV Variation

Panther Classification:

Molecular Function -

ligase, metabolite interconversion enzyme

Gene Ontology Categories:

Process(es)

leucine catabolic process
biotin metabolic process
branched-chain amino acid catabolic process
coenzyme A metabolic process
protein heterooligomerization

Function(s)

methylcrotonoyl-CoA carboxylase activity
protein binding
ATP binding