Hs02149223_cn

• Gene Symbol: ABCA2
• Assay Reference Genome Location: Chr.9:137027574 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: Within Intron 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 Exon 1

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
C9orf139	NM_207511.2	1	111	NP_997394.1
	AK124899.1	1	111	BAC85986.1

Target Copy Number Variation Details

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

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

More Information

• Set Membership: Intragenic, Exonic, 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