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

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