Hs05641212_cn

• Gene Symbol: SHROOM2
• Assay Reference Genome Location: Chr.X:9787566 on build GRCh38
• Cytoband: Xp22.2

Target Gene Details

• Entrez Gene ID: 357
• Gene Name: shroom family member 2
• Gene Aliases: APXL, HSAPXL
• Location: Chr.X:9786406-9949443 on Build GRCh38
• Assay Gene Location: Within Intron 1

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
SHROOM2	NM_001649.3			NP_001640.1
	XM_005274500.4			XP_005274557.2
	BC140866.1
	X83543.1			CAA58534.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv1075717	Chr.X:9785859 - 9788360 on Build GRCh38	Deletion	SHROOM2

More Information

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

Panther Classification:

Molecular Function -

actin or actin-binding cytoskeletal protein

Gene Ontology Categories:

Process(es)

cell morphogenesis
lens morphogenesis in camera-type eye
brain development
eye pigment granule organization
cell migration
establishment of melanosome localization
melanosome organization
sodium ion transmembrane transport
camera-type eye development
cellular pigment accumulation
ear development
apical protein localization
camera-type eye morphogenesis
actin filament bundle assembly

Function(s)

actin binding
protein binding
beta-catenin binding
ligand-gated sodium channel activity
actin filament binding