Hs03032022_cn

• Gene Symbol: KLHL40
• Assay Reference Genome Location: Chr.3:42686600 on build GRCh38
• Cytoband: 3p22.1

Target Gene Details

• Entrez Gene ID: 131377
• Gene Name: kelch like family member 40
• Gene Aliases: KBTBD5, NEM8, SRYP, SYRP
• Location: Chr.3:42685519-42692446 on Build GRCh38
• Assay Gene Location: Within Exon 1

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
KLHL40	NM_152393.3	1	1082	NP_689606.2
	AK056577.1	1	1064	BAB71222.1
	AK291294.1	1	1064
	AK300682.1	2	388
	AY176040.1	1	1082	AAO22141.1
	AY177390.1	1	1082	AAO06908.1
	BC110491.2	1	1050	AAI10492.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv954472	Chr.3:42683809 - 42713908 on Build GRCh38	Deletion	CCDC13 HHATL KLHL40

More Information

• Set Membership: Intragenic, Exonic, DGV Variation

Panther Classification:

Molecular Function -

scaffold/adaptor protein

Gene Ontology Categories:

Process(es)

protein ubiquitination
negative regulation of protein ubiquitination
negative regulation of proteasomal ubiquitin-dependent protein catabolic process
skeletal muscle fiber development

Function(s)

ubiquitin-protein transferase activity