Hs02205954_cn

• Gene Symbol: POMT2
• Assay Reference Genome Location: Chr.14:77275465 on build GRCh38
• Cytoband: 14q24.3

Target Gene Details

• Entrez Gene ID: 29954
• Gene Name: protein O-mannosyltransferase 2
• Gene Aliases: LGMD2N, MDDGA2, MDDGB2, MDDGC2
• Location: Chr.14:77274956-77320885 on Build GRCh38
• Assay Gene Location: Within Exon 22

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
POMT2	NM_013382.5	21	4365	NP_037514.2
	XM_011536675.2	22	4554	XP_011534977.1
	XM_011536676.2	21	4467	XP_011534978.1
	XM_011536677.2	18	4096	XP_011534979.1
	XM_011536679.2	18	3756	XP_011534981.1
	XM_017021244.1	20	4199	XP_016876733.1
	XM_017021245.1	17	3653	XP_016876734.1
	AB209114.1	20	5140	BAD92351.1
	AI927974.1
	AK023804.1	15	4956
	AL049462.1	1	156
	AL353956.1	4	2331	CAB89256.1
	AY090480.1	21	4368	AAM12046.1
	BM724049.1	1	584

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv1361	Chr.14:77241074 - 77286681 on Build GRCh38	Deletion	NGB TMEM63C POMT2 MIR1260A
nsv952872	Chr.14:77274658 - 77279757 on Build GRCh38	Deletion	POMT2

More Information

• Set Membership: Intragenic, Exonic, DGV Variation

Panther Classification:

Molecular Function -

transferase

Gene Ontology Categories:

Process(es)

cell wall mannoprotein biosynthetic process
protein O-linked glycosylation
multicellular organism development
protein O-linked mannosylation
chain elongation of O-linked mannose residue
regulation of endoplasmic reticulum unfolded protein response

Function(s)

dolichyl-phosphate-mannose-protein mannosyltransferase activity
metal ion binding