Hs01470859_cn

• Gene Symbol: MTMR12
• Assay Reference Genome Location: Chr.5:32230339 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: Overlaps Intron 18 - Exon 19

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
MTMR12	NM_001040446.2			NP_001035536.1
	NM_001294343.1			NP_001281272.1
	NM_001294344.1			NP_001281273.1
	XM_005248313.3			XP_005248370.1
	XM_011514057.1			XP_011512359.1
	XM_011514058.2			XP_011512360.1
	XM_011514059.1			XP_011512361.1
	XM_011514060.1			XP_011512362.1
	XM_017009589.1			XP_016865078.1
	XM_017009590.1			XP_016865079.1
	XM_017009591.1			XP_016865080.1
	XM_017009592.1			XP_016865081.1
	XM_017009593.1			XP_016865082.1
	XM_017009594.1			XP_016865083.1
	XM_017009595.1			XP_016865084.1
	XM_017009596.1			XP_016865085.1
	AB051469.1
	AK000483.1			BAA91195.1
	AL833231.1			CAH10604.1
	AY028703.1			AAK26171.1
	BC057393.1			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	GOLPH3 PDZD2 ZFR MIR579 MTMR12
dgv203e55	Chr.5:32114037 - 32260077 on Build GRCh38	Gain	GOLPH3 MTMR12
esv3604580	Chr.5:31525629 - 32360060 on Build GRCh38	Gain	MIR4279 GOLPH3 PDZD2 ZFR C5orf22 MTMR12 DROSHA

More Information

• Set Membership: Intragenic, Non-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