Hs02430983_cn

• Gene Symbol: GFM2
• Assay Reference Genome Location: Chr.5:74767372 on build GRCh38
• Cytoband: 5q13.3

Target Gene Details

• Entrez Gene ID: 84340
• Gene Name: G elongation factor mitochondrial 2
• Gene Aliases: EF-G2mt, EFG2, MRRF2, MST027, MSTP027, RRF2, RRF2mt, hEFG2, mEF-G 2
• Location: Chr.5:74721204-74767371 on Build GRCh38
• Assay Gene Location: Overlaps - Exon 1

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
GFM2	NM_001281302.1			NP_001268231.1
	NM_032380.4			NP_115756.2
	NM_170681.2			NP_733781.1
	NM_170691.2			NP_733792.1
	NR_104006.1
	BI828937.1
	DC402212.1

Target Gene Details

• Entrez Gene ID: 10412
• Gene Name: NSA2, ribosome biogenesis homolog
• Gene Aliases: CDK105, HCL-G1, HCLG1, HUSSY-29, HUSSY29, TINP1
• Location: Chr.5:74765429-74776912 on Build GRCh38
• Assay Gene Location: Overlaps Exon 2 - Intron 2

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
NSA2	NM_001271665.1			NP_001258594.1
	NM_014886.4			NP_055701.1
	NR_073403.1
	XM_011543098.1			XP_011541400.1
	XM_017008952.1			XP_016864441.1
	XM_017008953.1			XP_016864442.1
	AF077615.1			AAG43048.1
	AF372458.1			AAK53761.1
	AJ012409.1			CAA10008.1
	AK313784.1
	BC005288.1			AAH05288.1
	HY021659.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv598653	Chr.5:74697056 - 74799717 on Build GRCh38	Loss	HEXB GFM2 FAM169A NSA2

More Information

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

Panther Classification:

Molecular Function -

translation elongation factor

Gene Ontology Categories:

Process(es)

mitochondrial translation
ribosome disassembly
mitochondrial translational elongation
mitochondrial translational termination
maturation of 5.8S rRNA
maturation of LSU-rRNA

Function(s)

translation elongation factor activity
GTPase activity
protein binding
GTP binding
poly(A) RNA binding