Hs01914175_cn

• Gene Symbol: CELSR2
• Assay Reference Genome Location: Chr.1:109253378 on build GRCh38
• Cytoband: 1p13.3

Target Gene Details

• Entrez Gene ID: 1952
• Gene Name: cadherin EGF LAG seven-pass G-type receptor 2
• Gene Aliases: ADGRC2, CDHF10, EGFL2, Flamingo1, MEGF3
• Location: Chr.1:109249705-109275756 on Build GRCh38
• Assay Gene Location: Overlaps Exon 1 - Intron 1

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
CELSR2	NM_001408.2			NP_001399.1
	XM_005270580.4			XP_005270637.1
	AF234887.1			AAG00080.1
	D87469.2			BAA13407.2

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv517354	Chr.1:109239415 - 109283514 on Build GRCh38	Loss	CELSR2 PSRC1
nsv1012267	Chr.1:109168205 - 109279887 on Build GRCh38	Gain	SARS KIAA1324 CELSR2 PSRC1
nsv951381	Chr.1:109248679 - 109277078 on Build GRCh38	Deletion	CELSR2

More Information

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

Panther Classification:

Molecular Function -

cadherin

Gene Ontology Categories:

Process(es)

regulation of transcription, DNA-templated
homophilic cell adhesion via plasma membrane adhesion molecules
G-protein coupled receptor signaling pathway
spermatogenesis
Wnt signaling pathway
neural plate anterior/posterior regionalization
regulation of cell-cell adhesion
dendrite morphogenesis
Wnt signaling pathway, planar cell polarity pathway

Function(s)

G-protein coupled receptor activity
calcium ion binding