Hs01488385_cn

• Gene Symbol: KLHL2
• Assay Reference Genome Location: Chr.4:165207861 on build GRCh38
• Cytoband: 4q32.3

Target Gene Details

• Entrez Gene ID: 11275
• Gene Name: kelch like family member 2
• Gene Aliases: ABP-KELCH, MAV, MAYVEN
• Location: Chr.4:165207618-165323156 on Build GRCh38
• Assay Gene Location: Within Exon 1

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
KLHL2	NM_007246.3	1	244	NP_009177.3
	XM_011531572.2	1	114	XP_011529874.1
	XM_011531575.2	1	188	XP_011529877.1
	XM_017007674.1	1	115	XP_016863163.1
	XM_017007676.1	1	174	XP_016863165.1
	XM_017007677.1	1	170	XP_016863166.1
	AF059569.1	1	92	AAC67502.1
	AK315372.1	1	89
	AL541403.3	1	244
	BC022503.1	1	226	AAH22503.1
	BC036468.2	1	185	AAH36468.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
esv26333	Chr.4:165207285 - 165208055 on Build GRCh38	Loss	KLHL2
nsv596050	Chr.4:165207363 - 165208021 on Build GRCh38	Gain+Loss	KLHL2
dgv2933n106	Chr.4:165207448 - 165208148 on Build GRCh38	Deletion	KLHL2
nsv1074235	Chr.4:165207447 - 165207948 on Build GRCh38	Deletion	KLHL2
nsv596048	Chr.4:165206467 - 165207880 on Build GRCh38	Loss	KLHL2

More Information

• Set Membership: Intragenic, Exonic, DGV Variation

Panther Classification:

Molecular Function -

scaffold/adaptor protein

Gene Ontology Categories:

Process(es)

protein ubiquitination

Function(s)

actin binding
ubiquitin-protein transferase activity
protein binding