Hs02410143_cn

• Gene Symbol: ABCB6
• Assay Reference Genome Location: Chr.2:219209846 on build GRCh38
• Cytoband: 2q35

Target Gene Details

• Entrez Gene ID: 10058
• Gene Name: ATP binding cassette subfamily B member 6 (Langereis blood group)
• Gene Aliases: ABC, ABC14, DUH3, LAN, MCOPCB7, MTABC3, PRP, PSHK2, umat
• Location: Chr.2:219209766-219218990 on Build GRCh38
• Assay Gene Location: Within Exon 19

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
ABCB6	NM_005689.2	19	2938	NP_005680.1
	AF070598.1	15	1630	AAC28653.1
	AF308472.1	19	2927	AAG33617.1
	AJ289233.2	19	2898	CAB95766.2
	AK026067.1	16	1747
	AK057026.1	19	2657	BAB71347.1
	AK172812.1	19	2288	BAD18782.1
	AW664349.1
	BC000559.2	19	2889	AAH00559.1
	BC043423.1	12	2938	AAH43423.1
	U66673.1	8	920

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
esv3893555	Chr.2:219172722 - 219273269 on Build GRCh38	Loss	CNPPD1 ANKZF1 TUBA4A TUBA4B GLB1L STK16 ZFAND2B ATG9A FAM134A ABCB6

More Information

• Set Membership: Intragenic, Exonic, DGV Variation

Panther Classification:

Molecular Function -

ATP-binding cassette (ABC) transporter

Gene Ontology Categories:

Process(es)

porphyrin-containing compound biosynthetic process
transport
cellular iron ion homeostasis
brain development
heme transport
skin development
transmembrane transport

Function(s)

ATP binding
heme transporter activity
heme-transporting ATPase activity
efflux transmembrane transporter activity
heme binding