Hs01479533_cn

• Gene Symbol: MBLAC2
• Assay Reference Genome Location: Chr.5:90474383 on build GRCh38
• Cytoband: 5q14.3

Target Gene Details

• Entrez Gene ID: 153364
• Gene Name: metallo-beta-lactamase domain containing 2
• Gene Aliases: -
• Location: Chr.5:90458203-90474768 on Build GRCh38
• Assay Gene Location: Within Exon 1

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
MBLAC2	NM_203406.1	1	386	NP_981951.1
	AK096942.1			BAC04908.1
	AK128603.1
	BC038230.1	1	386	AAH38230.1
	BI918374.1

Target Gene Details

• Entrez Gene ID: 10622
• Gene Name: RNA polymerase III subunit G
• Gene Aliases: RPC32, RPC7
• Location: Chr.5:90473929-90514557 on Build GRCh38
• Assay Gene Location: Within Intron 1

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
POLR3G	XM_011543100.2			XP_011541402.1
	XM_011543101.2			XP_011541403.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv518131	Chr.5:90452325 - 90485777 on Build GRCh38	Loss	MBLAC2 POLR3G

More Information

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

Panther Classification:

Molecular Function -

hydrolase, DNA-directed RNA polymerase

Gene Ontology Categories:

Process(es)

biological_process
regulation of transcription from RNA polymerase III promoter
transcription initiation from RNA polymerase III promoter
cell proliferation
positive regulation of type I interferon production
positive regulation of interferon-beta production
innate immune response
positive regulation of innate immune response
defense response to virus

Function(s)

molecular_function
hydrolase activity
metal ion binding
RNA polymerase III activity
DNA-directed RNA polymerase activity