Hs06572047_cn

• Gene Symbol: KLHL12
• Assay Reference Genome Location: Chr.1:202907997 on build GRCh38
• Cytoband: 1q32.1

Target Gene Details

• Entrez Gene ID: 59349
• Gene Name: kelch like family member 12
• Gene Aliases: C3IP1, DKIR
• Location: Chr.1:202891096-202928644 on Build GRCh38
• Assay Gene Location: Within Intron 8

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
KLHL12	NM_001303051.1			NP_001289980.1
	NM_001303109.1			NP_001290038.1
	NM_021633.3			NP_067646.1
	XM_011509835.1			XP_011508137.1
	XM_011509836.1			XP_011508138.1
	XM_011509837.1			XP_011508139.1
	XM_017001995.1			XP_016857484.1
	AF190900.1			AAG17175.1
	AF306687.1
	AF306689.1
	AK024412.1			BAB14914.1
	AK027656.1			BAB55271.1
	AK223072.1			BAD96792.1
	AK301791.1
	BC003183.1			AAH03183.1
	BC004175.2			AAH04175.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv832359	Chr.1:202739288 - 202918866 on Build GRCh38	Loss	KDM5B RABIF PCAT6 LOC148709 KLHL12 MGAT4EP

More Information

• Set Membership: Intragenic, Intronic, Non-exonic, DGV Variation

Panther Classification:

Molecular Function -

scaffold/adaptor protein

Gene Ontology Categories:

Process(es)

protein monoubiquitination
ER to Golgi vesicle-mediated transport
Wnt signaling pathway
COPII vesicle coating
negative regulation of canonical Wnt signaling pathway

Function(s)

ubiquitin-protein transferase activity
protein binding
identical protein binding