Hs00131859_cn

• Gene Symbol: WNK1
• Assay Reference Genome Location: Chr.12:754223 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 Exon 1

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
WNK1	NM_001184985.1	1	1301	NP_001171914.1
	NM_014823.2	1	1301	NP_055638.2
	NM_018979.3	1	1301	NP_061852.3
	NM_213655.4	1	1301	NP_998820.3
	XM_006719003.2	1	1626	XP_006719066.1
	XM_011520997.2	1	1672	XP_011519299.1
	XM_011520998.2	1	1626	XP_011519300.1
	XM_011520999.2	1	1626	XP_011519301.1
	XM_011521000.2	1	1626	XP_011519302.1
	XM_011521001.2	1	1626	XP_011519303.1
	XM_011521002.2	1	1626	XP_011519304.1
	XM_011521003.2	1	1626	XP_011519305.1
	XM_011521004.2	1	1626	XP_011519306.1
	XM_011521006.2	1	1626	XP_011519308.1
	XM_011521007.2	1	1626	XP_011519309.1
	XM_011521008.2	1	1626	XP_011519310.1
	XM_011521009.2	1	1626	XP_011519311.1
	XM_017019834.1	1	1626	XP_016875323.1
	XM_017019835.1	1	1626	XP_016875324.1
	XM_017019836.1	1	1626	XP_016875325.1
	XM_017019837.1	1	1626	XP_016875326.1
	XM_017019838.1	1	1626	XP_016875327.1
	XM_017019839.1	1	1626	XP_016875328.1
	AB002342.2	1	456	BAA20802.2
	AF061944.1	1	1301	AAF31483.1
	AJ296290.1	1	658	CAC15059.1
	BC141881.1
	JQ358908.1	1	658

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	B4GALNT3 RAD52 WNK1 NINJ2 ERC1 LOC105369595 LOC100049716
esv2760688	Chr.12:746699 - 767080 on Build GRCh38	Loss	WNK1
dgv2253n54	Chr.12:741122 - 859323 on Build GRCh38	Loss	WNK1
nsv556899	Chr.12:741447 - 813242 on Build GRCh38	Loss	WNK1
dgv1335n100	Chr.12:739562 - 764851 on Build GRCh38	Loss	WNK1
nsv556887	Chr.12:523074 - 758338 on Build GRCh38	Gain	B4GALNT3 WNK1 NINJ2 LOC105369595 LOC100049716
esv2759875	Chr.12:225844 - 881378 on Build GRCh38	Gain+Loss	B4GALNT3 LOC102723544 WNK1 KDM5A SLC6A13 NINJ2 LOC105369595 LOC100049716 CCDC77
nsv556893	Chr.12:628064 - 873155 on Build GRCh38	Gain	WNK1 NINJ2 LOC100049716
nsv518946	Chr.12:745165 - 852170 on Build GRCh38	Loss	WNK1
nsv1119925	Chr.12:739873 - 764441 on Build GRCh38	Deletion	WNK1
nsv556901	Chr.12:753823 - 760447 on Build GRCh38	Gain	WNK1

More Information

• Set Membership: Intragenic, 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