Gene: KCNJ12

Alternate names for this Gene: IRK-2|IRK2|KCNJN1|Kir2.2|Kir2.2v|hIRK|hIRK1|hkir2.2x|kcnj12x

Gene Summary: This gene encodes an inwardly rectifying K+ channel which may be blocked by divalent cations. This protein is thought to be one of multiple inwardly rectifying channels which contribute to the cardiac inward rectifier current (IK1). The gene is located within the Smith-Magenis syndrome region on chromosome 17.

Gene is located in Chromosome: 17

Location in Chromosome : 17p11.2

Description of this Gene: potassium inwardly rectifying channel subfamily J member 12

Type of Gene: protein-coding

rs1317349 in KCNJ12 gene and Body Height PMID 31562340 2019 Characterizing rare and low-frequency height-associated variants in the Japanese population.

PMID 20881960 2010 Hundreds of variants clustered in genomic loci and biological pathways affect human height.

PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs4640244 in KCNJ12 gene and Height PMID 20881960 2010 Hundreds of variants clustered in genomic loci and biological pathways affect human height.

rs9895199 in KCNJ12 gene and Red Blood Cell Count measurement PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs4640244 in KCNJ12 gene and Waist-Hip Ratio PMID 25673412 2015 New genetic loci link adipose and insulin biology to body fat distribution.

PMID 30239722 2019 Meta-analysis of genome-wide association studies for body fat distribution in 694 649 individuals of European ancestry.