Hs03576089_cn

• Gene Symbol: NKD2
• Assay Reference Genome Location: Chr.5:1020037 on build GRCh38
• Cytoband: 5p15.33

Target Gene Details

• Entrez Gene ID: 85409
• Gene Name: naked cuticle homolog 2
• Gene Aliases: Naked2
• Location: Chr.5:1008845-1038812 on Build GRCh38
• Assay Gene Location: Within Intron 3

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
NKD2	NM_001271082.1			NP_001258011.1
	NM_033120.3			NP_149111.1
	XM_005248382.3			XP_005248439.1
	XM_005248383.3			XP_005248440.1
	XM_011514150.2			XP_011512452.1
	AB062887.1			BAB70501.1
	AF358137.1			AAK57486.1
	BC012176.1			AAH12176.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
esv27512	Chr.5:1001602 - 1049278 on Build GRCh38	Gain+Loss	NKD2
esv3894109	Chr.5:988113 - 1228100 on Build GRCh38	Gain	LOC100506688 NKD2 CTD-3080P12.3 SLC12A7 SLC6A19 SLC6A18 MIR4635
esv1007931	Chr.5:1017277 - 1025681 on Build GRCh38	Deletion	NKD2
esv2759316	Chr.5:620048 - 1161361 on Build GRCh38	Gain+Loss	ZDHHC11B CEP72 ZDHHC11 LOC100506688 NKD2 TPPP TRIP13 SLC12A7 BRD9 LOC101929895 MIR4635
dgv9522n54	Chr.5:1009968 - 1190946 on Build GRCh38	Loss	NKD2 CTD-3080P12.3 SLC12A7 MIR4635
nsv596629	Chr.5:457146 - 1468172 on Build GRCh38	Gain	CEP72 LOC100288152 NKD2 LOC100996325 CLPTM1L TPPP TRIP13 TERT BRD9 ZDHHC11 MIR4456 SLC6A3 LOC101929895 MIR4635 SLC9A3 ZDHHC11B MIR4457 LOC100506688 SLC12A7 SLC6A19 EXOC3 LPCAT1 LINC01511 PP7080 CTD-3080P12.3 SLC6A18
nsv822953	Chr.5:1003717 - 1113523 on Build GRCh38	Gain	NKD2 SLC12A7 MIR4635
nsv527182	Chr.5:995155 - 1207412 on Build GRCh38	Loss	LOC100506688 NKD2 CTD-3080P12.3 SLC12A7 SLC6A19 MIR4635
esv3603788	Chr.5:951987 - 1049107 on Build GRCh38	Loss	LOC100506688 NKD2
nsv469577	Chr.5:971392 - 1195577 on Build GRCh38	Loss	LOC100506688 NKD2 CTD-3080P12.3 SLC12A7 MIR4635
esv2669088	Chr.5:1000913 - 1049209 on Build GRCh38	Deletion	NKD2
esv3603792	Chr.5:1000756 - 1054628 on Build GRCh38	Gain	NKD2 SLC12A7
nsv470985	Chr.5:992394 - 1056998 on Build GRCh38	Gain	LOC100506688 NKD2 SLC12A7
nsv950627	Chr.5:1008886 - 1300685 on Build GRCh38	Deletion	NKD2 CTD-3080P12.3 TERT SLC12A7 SLC6A19 SLC6A18 MIR4635
nsv10654	Chr.5:676170 - 1082573 on Build GRCh38	Gain+Loss	ZDHHC11B ZDHHC11 LOC100506688 NKD2 TPPP TRIP13 SLC12A7 BRD9 MIR4635

More Information

Additional Information:

For this assay, SNP(s) [rs77213962] are located under a primer or probe sequence. To help evaluate the possible impact of a given SNP on your experiment, please refer to the 1000 Genomes and NCBI dbSNP databases. A higher minor allele frequency in your study population represents a higher risk to assay performance.

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

Gene Ontology Categories:

Process(es)

exocytosis
positive regulation of protein processing
Wnt signaling pathway
positive regulation of proteasomal ubiquitin-dependent protein catabolic process
Golgi vesicle fusion to target membrane
protein targeting to plasma membrane
positive regulation of establishment of protein localization to plasma membrane
negative regulation of canonical Wnt signaling pathway

Function(s)

calcium ion binding
protein binding
growth factor binding
ubiquitin protein ligase binding