Hs00478263_cn

• Gene Symbol: CRB2
• Assay Reference Genome Location: Chr.9:123362948 on build GRCh38
• Cytoband: 9q33.3

Target Gene Details

• Entrez Gene ID: 286204
• Gene Name: crumbs 2, cell polarity complex component
• Gene Aliases: FSGS9, VMCKD
• Location: Chr.9:123354065-123380335 on Build GRCh38
• Assay Gene Location: Within Exon 4

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
CRB2	NM_173689.6	2	272	NP_775960.4
	XM_011518556.2	2	272	XP_011516858.1
	XM_011518557.2	2	274	XP_011516859.1
	XM_011518558.2	3	634	XP_011516860.1
	AK123000.1	2	262
	AY720432.1	2	178	AAU14134.1
	DA240339.1	2	265

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv518647	Chr.9:123287696 - 123433925 on Build GRCh38	Loss	CRB2 DENND1A MIR601

More Information

• Set Membership: Intragenic, Exonic, DGV Variation

Panther Classification:

Molecular Function -

cell adhesion molecule

Gene Ontology Categories:

Process(es)

mesoderm formation
somitogenesis
positive regulation of epithelial to mesenchymal transition
negative regulation of endopeptidase activity
notochord formation
positive regulation of BMP signaling pathway
maintenance of epithelial cell apical/basal polarity
retina morphogenesis in camera-type eye
cardiovascular system development

Function(s)

calcium ion binding
aspartic-type endopeptidase inhibitor activity
enzyme binding