Hs02802102_cn

• Gene Symbol: ABCD2
• Assay Reference Genome Location: Chr.12:39646892 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: Within Intron 1

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
ABCD2	XM_011538027.2			XP_011536329.1

Target Gene Details

• Entrez Gene ID: 283461
• Gene Name: chromosome 12 open reading frame 40
• Gene Aliases: HEL-206, HEL-S-94
• Location: Chr.12:39626167-39908300 on Build GRCh38
• Assay Gene Location: Overlaps Exon 6 - Intron 6

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
C12orf40	NM_001031748.3			NP_001026918.2
	NM_001319247.1			NP_001306176.1
	NR_135051.1
	XM_005268806.3			XP_005268863.1
	XM_011538231.2			XP_011536533.1
	AK097445.1			BAC05057.1
	AL705293.1
	BC038754.1			AAH38754.2
	BC048120.1
	BI461967.1
	EU668334.1
	GQ472216.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
dgv197n27	Chr.12:39552552 - 39648418 on Build GRCh38	Loss	C12orf40 ABCD2

More Information

• Set Membership: Intragenic, Intronic, 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