Hs01009984_cn

• Gene Symbol: MAN2A1
• Assay Reference Genome Location: Chr.5:109689612 on build GRCh38
• Cytoband: 5q21.3

Target Gene Details

• Entrez Gene ID: 4124
• Gene Name: mannosidase alpha class 2A member 1
• Gene Aliases: AMan II, GOLIM7, MANA2, MANII
• Location: Chr.5:109689366-109869625 on Build GRCh38
• Assay Gene Location: Within Exon 1

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
MAN2A1	NM_002372.3	1	247	NP_002363.2
	BX341412.2	1	158

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv1025801	Chr.5:109627949 - 109731218 on Build GRCh38	Gain	MAN2A1
nsv1144116	Chr.5:109689399 - 109689799 on Build GRCh38	Deletion	MAN2A1

More Information

• Set Membership: Intragenic, Exonic, DGV Variation

Gene Ontology Categories:

Process(es)

in utero embryonic development
liver development
mannose metabolic process
N-glycan processing
protein deglycosylation
mitochondrion organization
vacuole organization
respiratory gaseous exchange
lung alveolus development
positive regulation of neurogenesis
retina morphogenesis in camera-type eye

Function(s)

mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity
zinc ion binding
hydrolase activity, hydrolyzing N-glycosyl compounds
carbohydrate binding