Hs02976410_cn

• Gene Symbol: DIAPH3
• Assay Reference Genome Location: Chr.13:59666268 on build GRCh38
• Cytoband: 13q21.2

Target Gene Details

• Entrez Gene ID: 81624
• Gene Name: diaphanous related formin 3
• Gene Aliases: AN, AUNA1, DIA2, DRF3, NSDAN, diap3, mDia2
• Location: Chr.13:59665583-60163985 on Build GRCh38
• Assay Gene Location: Within Exon 33

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
DIAPH3	NM_001042517.1	28	4117	NP_001035982.1
	NM_001258366.1	27	4084	NP_001245295.1
	NM_001258367.1	26	3979	NP_001245296.1
	NM_001258368.1	26	3907	NP_001245297.1
	XM_006719876.1	22	3268	XP_006719939.1
	AY750055.1	28	3990	AAW73254.1
	BC041395.1	2	686	AAH41395.1
	CA310418.1	1	696

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
esv3892363	Chr.13:58247917 - 59978884 on Build GRCh38	Gain	DIAPH3

More Information

• Set Membership: Intragenic, Exonic, DGV Variation

Gene Ontology Categories:

Process(es)

spermatogenesis
actin cytoskeleton organization
cell-cell adhesion

Function(s)

actin binding
Rho GTPase binding
cadherin binding involved in cell-cell adhesion