Hs02849466_cn

• Gene Symbol: MTMR12
• Assay Reference Genome Location: Chr.5:32229201 on build GRCh38
• Cytoband: 5p13.3

Target Gene Details

• Entrez Gene ID: 54545
• Gene Name: myotubularin related protein 12
• Gene Aliases: 3-PAP, PIP3AP
• Location: Chr.5:32227007-32313008 on Build GRCh38
• Assay Gene Location: Within Exon 19

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
MTMR12	NM_001040446.2	16	2991	NP_001035536.1
	NM_001294343.1	15	2829	NP_001281272.1
	NM_001294344.1	14	2661	NP_001281273.1
	XM_011514057.1	18	3111	XP_011512359.1
	XM_011514058.2	17	3051	XP_011512360.1
	XM_011514059.1	17	2943	XP_011512361.1
	XM_011514060.1	15	2721	XP_011512362.1
	XM_017009589.1	15	2787	XP_016865078.1
	XM_017009590.1	19	3049	XP_016865079.1
	XM_017009591.1	17	3060	XP_016865080.1
	XM_017009592.1	15	2755	XP_016865081.1
	XM_017009593.1	15	2882	XP_016865082.1
	XM_017009594.1	16	2943	XP_016865083.1
	XM_017009595.1	14	2825	XP_016865084.1
	XM_017009596.1	15	2711	XP_016865085.1
	AB051469.1	16	2924
	AL833231.1	6	1764	CAH10604.1
	BC057393.1	15	2759	AAH57393.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv1021781	Chr.5:32102613 - 32412387 on Build GRCh38	Gain	PDZD2 GOLPH3 MIR579 MTMR12 ZFR
dgv203e55	Chr.5:32114037 - 32260077 on Build GRCh38	Gain	GOLPH3 MTMR12
esv3604580	Chr.5:31525629 - 32360060 on Build GRCh38	Gain	PDZD2 C5orf22 GOLPH3 DROSHA MTMR12 MIR4279 ZFR

More Information

• Set Membership: Intragenic, Exonic, DGV Variation

Panther Classification:

Molecular Function -

phosphatase

Gene Ontology Categories:

Process(es)

regulation of catalytic activity
toxin transport

Function(s)

protein binding
phosphatase regulator activity