Hs01233823_cn

• Gene Symbol: HPCA
• Assay Reference Genome Location: Chr.1:32894336 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: Within Exon 6

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
HPCA	NM_002143.2	4	1096	NP_002134.2
	BC001777.1	4	1096	AAH01777.1

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 TMEM54 FNDC5
nsv516302	Chr.1:32855000 - 32914507 on Build GRCh38	Loss	HPCA TMEM54 S100PBP FNDC5

More Information

• Set Membership: Intragenic, 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