Hs02604314_cn

• Gene Symbol: ABCA2
• Assay Reference Genome Location: Chr.9:137028052 on build GRCh38
• Cytoband: 9q34.3

Target Gene Details

• Entrez Gene ID: 20
• Gene Name: ATP binding cassette subfamily A member 2
• Gene Aliases: ABC2
• Location: Chr.9:137007234-137028922 on Build GRCh38
• Assay Gene Location: Overlaps Intron 2 - Exon 2

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
ABCA2	NM_001606.4			NP_001597.2
	NM_212533.2			NP_997698.1
	XM_006716996.3			XP_006717059.1
	AF178941.1			AAG09372.1
	AF327657.1			AAK14334.1
	AK308738.1
	BC064542.1			AAH64542.1
	BM921499.1
	CD676110.1

Target Gene Details

• Entrez Gene ID: 401563
• Gene Name: chromosome 9 open reading frame 139
• Gene Aliases: -
• Location: Chr.9:137027464-137037770 on Build GRCh38
• Assay Gene Location: Within Intron 1

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
C9orf139	NM_207511.2			NP_997394.1
	AK124899.1			BAC85986.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv1113023	Chr.9:137027748 - 137028348 on Build GRCh38	Deletion	ABCA2 C9orf139
dgv13007n54	Chr.9:136966179 - 137173890 on Build GRCh38	Loss	FUT7 NPDC1 PRR31 GRIN1 C9orf142 LCNL1 PTGDS ABCA2 LOC101930307 SAPCD2 CLIC3 UAP1L1 C9orf139 ENTPD2 TMEM210 MAN1B1-AS1 MAN1B1 DPP7 MIR3621 LRRC26
nsv524322	Chr.9:136795692 - 137482216 on Build GRCh38	Loss	PHPT1 FUT7 NPDC1 NELFB C9orf142 PNPLA7 PTGDS ABCA2 LOC101930307 CLIC3 TRAF2 RABL6 ENTPD2 EDF1 CCDC183-AS1 EXD3 C9orf173-AS1 CYSRT1 DPP7 NRARP RNF224 UAP1L1 C9orf139 C8G LCN12 RNF208 CCDC183 MAN1B1 TPRN STPG3 FBXW5 ENTPD8 TOR4A ANAPC2 LRRC26 GRIN1 LCNL1 SAPCD2 MAN1B1-AS1 MIR4479 SLC34A3 FAM166A TUBB4B MIR3621 SSNA1 PRR31 MIR7114 MAMDC4 TMEM203 NOXA1 TMEM210 NDOR1 MIR4292 C9orf172 NSMF
nsv951206	Chr.9:136944849 - 137114548 on Build GRCh38	Deletion	FUT7 NPDC1 PRR31 C9orf142 LCNL1 PTGDS ABCA2 LOC101930307 SAPCD2 CLIC3 UAP1L1 C9orf139 ENTPD2 MAN1B1-AS1 C8G LCN12 MAN1B1 DPP7
nsv469918	Chr.9:136359865 - 137173890 on Build GRCh38	Loss	PHPT1 FUT7 NPDC1 MIR4673 C9orf142 LCN8 PTGDS ABCA2 LOC101930307 CLIC3 TRAF2 RABL6 ENTPD2 SNORA17B EDF1 CCDC183-AS1 MIR126 CARD9 DPP7 AGPAT2 LCN6 PMPCA LCN10 MIR4674 SNORA17A UAP1L1 C9orf139 C8G C9orf163 LCN12 TMEM141 CCDC183 MAN1B1 SNHG7 LINC01451 FBXW5 LRRC26 LCN15 HSPC324 NOTCH1 SNAPC4 GRIN1 LCNL1 SAPCD2 MAN1B1-AS1 MIR4479 NALT1 LOC100128593 MIR3621 EGFL7 SDCCAG3 PRR31 INPP5E MAMDC4 TMEM210 MIR4292 DNLZ SEC16A C9orf172 FAM69B MIR6722
nsv1119617	Chr.9:137028048 - 137028448 on Build GRCh38	Deletion	ABCA2 C9orf139
nsv1077200	Chr.9:137027947 - 137028348 on Build GRCh38	Deletion	ABCA2 C9orf139
nsv616004	Chr.9:137014976 - 137053021 on Build GRCh38	Loss	FUT7 NPDC1 ABCA2 C9orf139 ENTPD2
esv2422220	Chr.9:136584135 - 137350098 on Build GRCh38	Deletion	PHPT1 FUT7 NPDC1 NELFB C9orf142 LCN8 PTGDS ABCA2 LOC101930307 CLIC3 TRAF2 RABL6 ENTPD2 SNORA17B EDF1 CCDC183-AS1 MIR126 EXD3 C9orf173-AS1 CYSRT1 DPP7 AGPAT2 NRARP LCN6 RNF224 LCN10 SNORA17A UAP1L1 C9orf139 C8G LCN12 RNF208 TMEM141 CCDC183 MAN1B1 TPRN SNHG7 LINC01451 STPG3 FBXW5 TOR4A ANAPC2 LRRC26 LCN15 HSPC324 GRIN1 LCNL1 SAPCD2 MAN1B1-AS1 MIR4479 SLC34A3 FAM166A TUBB4B LOC100128593 MIR3621 EGFL7 SSNA1 PRR31 MAMDC4 TMEM203 TMEM210 NDOR1 MIR4292 C9orf172 FAM69B MIR6722

More Information

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

Panther Classification:

Molecular Function -

ATP-binding cassette (ABC) transporter, primary active transporter, non-motor actin binding protein, transporter

Gene Ontology Categories:

Process(es)

regulation of transcription from RNA polymerase II promoter
lipid metabolic process
transport
regulation of intracellular cholesterol transport
cholesterol efflux
phospholipid efflux
response to drug
cholesterol homeostasis
response to steroid hormone
transmembrane transport

Function(s)

nucleotide binding
ATP binding
ATPase activity
ATPase activity, coupled to transmembrane movement of substances