Hs00754426_cn

• Gene Symbol: HPCA
• Assay Reference Genome Location: Chr.1:32893544 on build GRCh38
• Cytoband: 1p35.1

Target Gene Details

• Entrez Gene ID: 3208
• Gene Name: hippocalcin
• Gene Aliases: BDR2, DYT2
• Location: Chr.1:32885965-32894646 on Build GRCh38
• Assay Gene Location: Overlaps Intron 4 - Exon 5

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
HPCA	NM_002143.2			NP_002134.2
	XM_005270792.2			XP_005270849.1
	XM_017001118.1			XP_016856607.1
	AK313907.1
	BC001777.1			AAH01777.1
	BT019750.1			AAV38555.1
	BT019789.1			AAV38592.1
	D16593.1			BAA04019.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv950584	Chr.1:32867900 - 32907199 on Build GRCh38	Deletion	HPCA FNDC5 TMEM54
nsv516302	Chr.1:32855000 - 32914507 on Build GRCh38	Loss	HPCA S100PBP FNDC5 TMEM54

More Information

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

Gene Ontology Categories:

Process(es)

brain development
calcium-mediated signaling
negative regulation of guanylate cyclase activity
activation of phospholipase D activity
positive regulation of adenylate cyclase activity
inner ear development
retina development in camera-type eye
cellular response to electrical stimulus
positive regulation of protein targeting to membrane
response to ketamine
response to L-glutamate
cellular response to monosodium glutamate
response to Aroclor 1254

Function(s)

actin binding
calcium ion binding
kinase binding