Hs03824916_cn

• Gene Symbol: WNK1
• Assay Reference Genome Location: Chr.12:774278 on build GRCh38
• Cytoband: 12p13.33

Target Gene Details

• Entrez Gene ID: 65125
• Gene Name: WNK lysine deficient protein kinase 1
• Gene Aliases: HSAN2, HSN2, KDP, PPP1R167, PRKWNK1, PSK, p65
• Location: Chr.12:752552-911452 on Build GRCh38
• Assay Gene Location: Within Intron 1

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
WNK1	NM_001184985.1			NP_001171914.1
	NM_014823.2			NP_055638.2
	NM_018979.3			NP_061852.3
	NM_213655.4			NP_998820.3
	XM_006719003.2			XP_006719066.1
	XM_011520997.2			XP_011519299.1
	XM_011520998.2			XP_011519300.1
	XM_011520999.2			XP_011519301.1
	XM_011521000.2			XP_011519302.1
	XM_011521001.2			XP_011519303.1
	XM_011521002.2			XP_011519304.1
	XM_011521003.2			XP_011519305.1
	XM_011521004.2			XP_011519306.1
	XM_011521006.2			XP_011519308.1
	XM_011521007.2			XP_011519309.1
	XM_011521008.2			XP_011519310.1
	XM_011521009.2			XP_011519311.1
	XM_017019834.1			XP_016875323.1
	XM_017019835.1			XP_016875324.1
	XM_017019836.1			XP_016875325.1
	XM_017019837.1			XP_016875326.1
	XM_017019838.1			XP_016875327.1
	XM_017019839.1			XP_016875328.1
	AB002342.2			BAA20802.2
	AF061944.1			AAF31483.1
	AJ296290.1			CAC15059.1
	BC141881.1
	JQ358908.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
dgv2251n54	Chr.12:553282 - 1101718 on Build GRCh38	Gain	RAD52 LOC100049716 B4GALNT3 NINJ2 WNK1 LOC105369595 ERC1
dgv2253n54	Chr.12:741122 - 859323 on Build GRCh38	Loss	WNK1
nsv556899	Chr.12:741447 - 813242 on Build GRCh38	Loss	WNK1
esv2760258	Chr.12:759943 - 776028 on Build GRCh38	Loss	WNK1
esv2759875	Chr.12:225844 - 881378 on Build GRCh38	Gain+Loss	LOC102723544 LOC100049716 B4GALNT3 CCDC77 NINJ2 WNK1 LOC105369595 KDM5A SLC6A13
nsv556893	Chr.12:628064 - 873155 on Build GRCh38	Gain	LOC100049716 NINJ2 WNK1
nsv518946	Chr.12:745165 - 852170 on Build GRCh38	Loss	WNK1
nsv437133	Chr.12:756804 - 779154 on Build GRCh38	Loss	WNK1
nsv952782	Chr.12:767335 - 814534 on Build GRCh38	Duplication	WNK1

More Information

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

Panther Classification:

Molecular Function -

non-receptor serine/threonine protein kinase

Gene Ontology Categories:

Process(es)

positive regulation of systemic arterial blood pressure
protein phosphorylation
ion transport
negative regulation of phosphatase activity
peptidyl-threonine phosphorylation
positive regulation of ion transmembrane transporter activity
intracellular signal transduction
protein autophosphorylation
neuron development
regulation of cellular process
negative regulation of protein serine/threonine kinase activity
negative regulation of pancreatic juice secretion
regulation of ion homeostasis

Function(s)

magnesium ion binding
protein serine/threonine kinase activity
protein binding
ATP binding
chloride channel inhibitor activity
potassium channel inhibitor activity
protein kinase binding
phosphatase binding
protein serine/threonine kinase inhibitor activity