Hs01229447_cn

• Gene Symbol: KLHL3
• Assay Reference Genome Location: Chr.5:137617670 on build GRCh38
• Cytoband: 5q31.2

Target Gene Details

• Entrez Gene ID: 26249
• Gene Name: kelch like family member 3
• Gene Aliases: PHA2D
• Location: Chr.5:137617500-137736090 on Build GRCh38
• Assay Gene Location: Within Exon 17

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
KLHL3	NM_001257194.1	15	6811	NP_001244123.1
	NM_001257195.1	13	6387	NP_001244124.1
	NM_017415.2	15	6636	NP_059111.2
	AB032955.1	15	6406
	AF208068.1	15	6320	AAF20938.1
	AF208069.1	13	6424	AAF20939.1
	AF208070.1	15	6811	AAF20995.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv830499	Chr.5:137524807 - 137685237 on Build GRCh38	Loss	KLHL3 MIR874

More Information

• Set Membership: Intragenic, Exonic, DGV Variation

Panther Classification:

Molecular Function -

scaffold/adaptor protein

Gene Ontology Categories:

Process(es)

protein ubiquitination
protein ubiquitination involved in ubiquitin-dependent protein catabolic process
ion homeostasis
renal sodium ion absorption
protein K48-linked ubiquitination
distal tubule morphogenesis

Function(s)

actin binding
ubiquitin-protein transferase activity
structural molecule activity
protein binding