Hs02577975_cn

• Gene Symbol: ABCD2
• Assay Reference Genome Location: Chr.12:39554095 on build GRCh38
• Cytoband: 12q12

Target Gene Details

• Entrez Gene ID: 225
• Gene Name: ATP binding cassette subfamily D member 2
• Gene Aliases: ABC39, ALDL1, ALDR, ALDRP, hALDR
• Location: Chr.12:39530966-39651333 on Build GRCh38
• Assay Gene Location: Overlaps Intron 11 - Exon 12

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
ABCD2	NM_005164.3			NP_005155.1
	XM_011538027.2			XP_011536329.1
	XM_017018992.1			XP_016874481.1
	AJ000327.1			CAA03994.1
	AK314254.1
	BC104901.1			AAI04902.1
	BC104903.1			AAI04904.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv1039645	Chr.12:39509321 - 39628227 on Build GRCh38	Loss	ABCD2 C12orf40
nsv522940	Chr.12:39552552 - 39604342 on Build GRCh38	Loss	ABCD2

More Information

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

Panther Classification:

Molecular Function -

ATP-binding cassette (ABC) transporter

Gene Ontology Categories:

Process(es)

very long-chain fatty acid metabolic process
fatty acid beta-oxidation
long-chain fatty acid transport
positive regulation of fatty acid beta-oxidation
very long-chain fatty acid catabolic process
transmembrane transport

Function(s)

long-chain fatty acid transporter activity
protein binding
ATP binding
ATPase activity, coupled to transmembrane movement of substances
protein homodimerization activity