Gene: PPP1R12B
Alternate names for this Gene: MYPT2|PP1bp55
Gene Summary: Myosin phosphatase is a protein complex comprised of three subunits: a catalytic subunit (PP1c-delta, protein phosphatase 1, catalytic subunit delta), a large regulatory subunit (MYPT, myosin phosphatase target) and small regulatory subunit (sm-M20). Two isoforms of MYPT have been isolated--MYPT1 and MYPT2, the first of which is widely expressed, and the second of which may be specific to heart, skeletal muscle, and brain. Each of the MYPT isoforms functions to bind PP1c-delta and increase phosphatase activity. This locus encodes both MYTP2 and M20. Alternatively spliced transcript variants encoding different isoforms have been identified. Related pseudogenes have been defined on the Y chromosome.
Gene is located in Chromosome: 1
Location in Chromosome : 1q32.1
Description of this Gene: protein phosphatase 1 regulatory subunit 12B
Type of Gene: protein-coding
rs12734001 in
PPP1R12B gene and
Asthma
PMID 21790008 2011 Two new loci associated with childhood bronchial asthma were identified (20q13.12, rs2425656, P = 1.99 x 10(-7); 1q32.1, rs3817222, rs12734001, P = 2.18 x 10(-7) and 2.79 x 10(-7), respectively) as well as one locus, associated with allergic rhinitis (2q36.1, rs1597167, P = 3.69 x 10(-7)).
PMID 21790008 2011 Two new loci associated with childhood bronchial asthma were identified (20q13.12, rs2425656, P = 1.99 x 10(-7); 1q32.1, rs3817222, rs12734001, P = 2.18 x 10(-7) and 2.79 x 10(-7), respectively) as well as one locus, associated with allergic rhinitis (2q36.1, rs1597167, P = 3.69 x 10(-7)).
rs12734338 in
PPP1R12B gene and
Celiac Disease
PMID 23936387 2013 A possible mechanism behind autoimmune disorders discovered by genome-wide linkage and association analysis in celiac disease.
rs12734338 in
PPP1R12B gene and
Coronary heart disease
PMID 24778558 2013 RTN4 and FBXL17 Genes are Associated with Coronary Heart Disease in Genome-Wide Association Analysis of Lithuanian Families.
rs12739262 in
PPP1R12B gene and
Estradiol level result
PMID 23251661 2012 Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
rs12739262 in
PPP1R12B gene and
Estradiol measurement
PMID 23251661 2012 Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
rs12739262 in
PPP1R12B gene and
Polysomnography
PMID 23251661 2012 Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
rs12734001 in
PPP1R12B gene and
Prion Diseases
PMID 22210626 2012 Genome-wide association study in multiple human prion diseases suggests genetic risk factors additional to PRNP.