Hs02111408_cn

• Gene Symbol: EMC4
• Assay Reference Genome Location: Chr.15:34230086 on build GRCh38
• Cytoband: 15q14

Target Gene Details

• Entrez Gene ID: 51234
• Gene Name: ER membrane protein complex subunit 4
• Gene Aliases: PIG17, TMEM85
• Location: Chr.15:34224997-34230165 on Build GRCh38
• Assay Gene Location: Within Exon 5

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
EMC4	NM_001286420.1	4	807	NP_001273349.1
	NM_016454.3	5	968	NP_057538.1
	AF151018.1	5	921	AAF36104.1
	AK075227.1	5	947	BAC11486.1
	AK290524.1	4	791
	BC002583.2	4	772	AAH02583.1
	DB506932.1	2	379

Target Gene Details

• Entrez Gene ID: 9990
• Gene Name: solute carrier family 12 member 6
• Gene Aliases: ACCPN, KCC3, KCC3A, KCC3B
• Location: Chr.15:34229996-34338064 on Build GRCh38
• Assay Gene Location: Within Exon 27

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
SLC12A6	NM_001042494.1	26	7598	NP_001035959.1
	NM_001042495.1	26	7273	NP_001035960.1
	NM_001042496.1	26	7664	NP_001035961.1
	NM_001042497.1	24	7367	NP_001035962.1
	NM_005135.2	25	7237	NP_005126.1
	NM_133647.1	25	7412	NP_598408.1
	XM_006720793.3	24	8147	XP_006720856.1
	AK056019.1	2	1834

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv1052620	Chr.15:32612402 - 34538731 on Build GRCh38	Gain	GREM1 FMN1 AVEN LOC101928042 CHRM5 SCG5 MIR1233-2 LOC101928134 SLC12A6 KATNBL1 LOC105370757 NOP10 TMCO5B MIR1233-1 EMC4 PGBD4 EMC7 GOLGA8B RYR3 ARHGAP11A LPCAT4 NUTM1 GOLGA8A LOC100131315
esv33337	Chr.15:31689863 - 34575097 on Build GRCh38	Gain+Loss	FMN1 GOLGA8O SCG5 LOC100653133 NOP10 TMCO5B MIR1233-1 EMC4 EMC7 LOC100996255 RYR3 ARHGAP11A LPCAT4 NUTM1 LOC101060588 LOC105370940 GREM1 GOLGA8K AVEN LOC101928042 CHRM5 GOLGA8N MIR1233-2 LOC101928134 SLC12A6 KATNBL1 LOC105370757 PGBD4 ULK4P1 GOLGA8B WHAMMP1 CHRNA7 GOLGA8A LOC100131315
esv3569431	Chr.15:33564570 - 35080307 on Build GRCh38	Gain	AVEN CHRM5 MIR1233-2 SLC12A6 KATNBL1 GJD2 NOP10 MIR1233-1 EMC4 AQR PGBD4 ZNF770 LOC101928174 EMC7 GOLGA8B ACTC1 RYR3 LPCAT4 NUTM1 GOLGA8A
dgv4456n54	Chr.15:32604149 - 34557061 on Build GRCh38	Gain	FMN1 SCG5 NOP10 TMCO5B MIR1233-1 EMC4 EMC7 RYR3 ARHGAP11A LPCAT4 NUTM1 GREM1 AVEN LOC101928042 CHRM5 GOLGA8N MIR1233-2 LOC101928134 SLC12A6 KATNBL1 LOC105370757 PGBD4 GOLGA8B GOLGA8A LOC100131315

More Information

• Set Membership: Intragenic, Exonic, DGV Variation

Panther Classification:

Molecular Function -

secondary carrier transporter

Gene Ontology Categories:

Process(es)

apoptotic process
angiogenesis
ion transport
chemical synaptic transmission
cellular hypotonic salinity response
potassium ion transmembrane transport
chloride transmembrane transport

Function(s)

potassium:chloride symporter activity
potassium ion symporter activity