Hs02891045_cn

• Gene Symbol: MYEF2
• Assay Reference Genome Location: Chr.15:48140255 on build GRCh38
• Cytoband: 15q21.1

Target Gene Details

• Entrez Gene ID: 50804
• Gene Name: myelin expression factor 2
• Gene Aliases: HsT18564, MEF-2, MST156, MSTP156, myEF-2
• Location: Chr.15:48134632-48178517 on Build GRCh38
• Assay Gene Location: Within Exon 19

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
MYEF2	NM_001301210.1	16	4508	NP_001288139.1
	NM_016132.4	17	4580	NP_057216.2
	XM_005254422.4	16	4685	XP_005254479.2
	XM_005254424.4	15	4427	XP_005254481.2
	XM_005254425.4	16	4684	XP_005254482.2
	XM_006720553.3	16	4528	XP_006720616.1
	XM_011521657.2	13	4078	XP_011519959.1
	XM_017022285.1	15	4633	XP_016877774.1
	XM_017022286.1	15	4612	XP_016877775.1
	XM_017022287.1	14	4561	XP_016877776.1
	XM_017022288.1	15	4477	XP_016877777.1
	XM_017022289.1	15	4456	XP_016877778.1
	XM_017022290.1	14	4405	XP_016877779.1
	XM_017022291.1	14	4404	XP_016877780.1
	XM_017022292.1	13	4353	XP_016877781.1
	AB037762.1
	AK027316.1	1	772
	BC152420.1
	BC152451.1
	BX647197.1	3	3693

Target Gene Details

• Entrez Gene ID: 283652
• Gene Name: solute carrier family 24 member 5
• Gene Aliases: JSX, NCKX5, OCA6, SHEP4
• Location: Chr.15:48120972-48142392 on Build GRCh38
• Assay Gene Location: Within Intron 8

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
SLC24A5	NM_205850.2			NP_995322.1
	XM_017022079.1			XP_016877568.1
	XM_017022080.1			XP_016877569.1
	AF348468.1			AAQ15116.1
	BC073944.1			AAH73944.1
	BC113628.1
	BC113630.1
	BC143950.1
	DQ665306.1
	DQ665307.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv832999	Chr.15:47960097 - 48160208 on Build GRCh38	Gain	SLC24A5 MYEF2
nsv569338	Chr.15:48104611 - 48160602 on Build GRCh38	Loss	SLC24A5 MYEF2

More Information

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

Panther Classification:

Molecular Function -

RNA metabolism protein, RNA processing factor, RNA splicing factor, nucleic acid metabolism protein, secondary carrier transporter

Gene Ontology Categories:

Process(es)

transcription, DNA-templated
myotube differentiation
neuron differentiation
ion transport
potassium ion transport
cellular calcium ion homeostasis
ion transmembrane transport
sodium ion transmembrane transport
negative regulation of melanin biosynthetic process
response to stimulus
calcium ion transmembrane transport

Function(s)

nucleotide binding
DNA binding
poly(A) RNA binding
calcium channel activity
calcium ion binding
calcium, potassium:sodium antiporter activity
symporter activity
potassium ion binding
sodium ion binding