Hs02269399_cn

• Gene Symbol: HIP1R
• Assay Reference Genome Location: Chr.12:122835548 on build GRCh38
• Cytoband: 12q24.31

Target Gene Details

• Entrez Gene ID: 9026
• Gene Name: huntingtin interacting protein 1 related
• Gene Aliases: HIP12, HIP3, ILWEQ
• Location: Chr.12:122834498-122862961 on Build GRCh38
• Assay Gene Location: Within Exon 2

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
HIP1R	NM_001303097.1	1	111	NP_001290026.1
	NM_001303099.1			NP_001290028.1
	NM_003959.2	1	111	NP_003950.1
	XM_011538963.1			XP_011537265.1
	AB014555.1
	AK090537.1
	AK298387.1	1	68
	BC067085.1	1	60	AAH67085.1
	DA779723.1
	DN999807.1	1	129
	HY123489.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv1136158	Chr.12:122835153 - 122835953 on Build GRCh38	Deletion	HIP1R
nsv1070137	Chr.12:122835152 - 122835953 on Build GRCh38	Deletion	HIP1R
nsv517200	Chr.12:122827504 - 123169951 on Build GRCh38	Loss	OGFOD2 ARL6IP4 LOC100507091 VPS37B PITPNM2 ABCB9 HIP1R MPHOSPH9 MIR4304

More Information

• Set Membership: Intragenic, Exonic, DGV Variation

Panther Classification:

Molecular Function -

non-motor actin binding protein

Gene Ontology Categories:

Process(es)

receptor-mediated endocytosis
apoptotic process
clathrin-mediated endocytosis

Function(s)

actin binding
protein binding
clathrin binding
phosphatidylinositol binding