Hs03824003_cn

• Gene Symbol: ABCB9
• Assay Reference Genome Location: Chr.12:122927591 on build GRCh38
• Cytoband: 12q24.31

Target Gene Details

• Entrez Gene ID: 23457
• Gene Name: ATP binding cassette subfamily B member 9
• Gene Aliases: EST122234, TAPL
• Location: Chr.12:122918708-122975160 on Build GRCh38
• Assay Gene Location: Within Intron 15

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
ABCB9	NM_001243014.1			NP_001229943.1
	NM_203444.3			NP_982269.2
	AB112582.1			BAC98409.1
	AB112583.1			BAC98410.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
dgv22n68	Chr.12:122911380 - 123104743 on Build GRCh38	Loss	ARL6IP4 MIR4304 LOC100507091 OGFOD2 PITPNM2 ABCB9
nsv517200	Chr.12:122827504 - 123169951 on Build GRCh38	Loss	ARL6IP4 VPS37B MIR4304 LOC100507091 HIP1R OGFOD2 PITPNM2 ABCB9 MPHOSPH9

More Information

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

Panther Classification:

Molecular Function -

ATP-binding cassette (ABC) transporter

Gene Ontology Categories:

Process(es)

antigen processing and presentation of peptide antigen via MHC class I
antigen processing and presentation of exogenous protein antigen via MHC class Ib, TAP-dependent
antigen processing and presentation of endogenous peptide antigen via MHC class I via ER pathway, TAP-dependent
antigen processing and presentation of endogenous peptide antigen via MHC class Ib via ER pathway, TAP-dependent
positive regulation of antigen processing and presentation of peptide antigen via MHC class I
protein transport
peptide transport
oligopeptide transmembrane transport
transmembrane transport

Function(s)

protein binding
ATP binding
oligopeptide-transporting ATPase activity
peptide-transporting ATPase activity
substrate-specific transmembrane transporter activity
protein homodimerization activity