Hs02773380_cn

• Gene Symbol: EHD3
• Assay Reference Genome Location: Chr.2:31234906 on build GRCh38
• Cytoband: 2p23.1

Target Gene Details

• Entrez Gene ID: 30845
• Gene Name: EH domain containing 3
• Gene Aliases: PAST3
• Location: Chr.2:31234014-31269451 on Build GRCh38
• Assay Gene Location: Overlaps Exon 1 - Intron 1

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
EHD3	NM_014600.2			NP_055415.1
	AF181264.1			AAF40471.1
	AF214736.1			AAF32285.1
	AK294222.1
	AK316006.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
dgv3746n100	Chr.2:31201722 - 31247979 on Build GRCh38	Loss	CAPN14 EHD3
esv3583708	Chr.2:31199335 - 31245497 on Build GRCh38	Loss	CAPN14 EHD3
nsv581268	Chr.2:31202917 - 31244213 on Build GRCh38	Loss	CAPN14 EHD3

More Information

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

Panther Classification:

Molecular Function -

membrane traffic protein

Gene Ontology Categories:

Process(es)

receptor recycling
blood coagulation
endocytic recycling
early endosome to Golgi transport
cilium assembly
protein homooligomerization
protein targeting to plasma membrane
regulation of cardiac muscle cell membrane potential
Golgi to lysosome transport
regulation of Golgi organization

Function(s)

nucleic acid binding
calcium ion binding
protein binding
ATP binding
GTP binding