Gene: ANKS1B

Alternate names for this Gene: AIDA|AIDA-1|ANKS2|EB-1|EB1|cajalin-2

Gene Summary: This gene encodes a multi-domain protein that is predominantly expressed in brain and testis. This protein interacts with amyloid beta protein precursor (AbetaPP) and may have a role in normal brain development, and in the pathogenesis of Alzheimer's disease. Expression of this gene has been shown to be elevated in patients with pre-B cell acute lymphocytic leukemia associated with t(1;19) translocation. Alternatively spliced transcript variants encoding different isoforms (some with different subcellular localization, PMID:15004329) have been described for this gene.

Gene is located in Chromosome: 12

Location in Chromosome : 12q23.1

Description of this Gene: ankyrin repeat and sterile alpha motif domain containing 1B

Type of Gene: protein-coding

rs2133896 in ANKS1B gene and Alcohol-Induced Disorders PMID 31462767 2019 Identification of novel risk loci with shared effects on alcoholism, heroin, and methamphetamine dependence.

rs2133896 in ANKS1B gene and Alcohol-Related Disorders PMID 31462767 2019 Identification of novel risk loci with shared effects on alcoholism, heroin, and methamphetamine dependence.

rs2133896 in ANKS1B gene and Alcoholic Intoxication, Chronic PMID 31462767 2019 We identified and replicated three novel loci that were associated with the common risk of heroin, methamphetamine addiction, and alcoholism: ANKS1B rs2133896 (P<sub>meta</sub> = 3.60 × 10<sup>-9</sup>), AGBL4 rs147247472 (P<sub>meta</sub> = 3.40 × 10<sup>-12</sup>), and CTNNA2 rs10196867 (P<sub>meta</sub> = 4.73 × 10<sup>-9</sup>).

rs2133896 in ANKS1B gene and Amphetamine-Related Disorders PMID 31462767 2019 Identification of novel risk loci with shared effects on alcoholism, heroin, and methamphetamine dependence.

rs12227147 in ANKS1B gene and Body mass index PMID 29868124 2018 Genetics of Obesity Traits: A Bivariate Genome-Wide Association Analysis.

PMID 30108127 2018 A Large Multiethnic Genome-Wide Association Study of Adult Body Mass Index Identifies Novel Loci.

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

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

rs142161979 in ANKS1B gene and Childhood asthma PMID 29551627 2018 Susceptibility to corticosteroid-induced adrenal suppression: a genome-wide association study.

rs142161979 in ANKS1B gene and Cortisol Measurement PMID 29551627 2018 Susceptibility to corticosteroid-induced adrenal suppression: a genome-wide association study.

rs11110004 in ANKS1B gene and Heart failure PMID 31113495 2019 Genetics of heart rate in heart failure patients (GenHRate).

rs2133896 in ANKS1B gene and Heroin Dependence PMID 31462767 2019 Identification of novel risk loci with shared effects on alcoholism, heroin, and methamphetamine dependence.

rs11110094 in ANKS1B gene and Interleukin 17 Measurement PMID 27989323 2017 Genome-wide Association Study Identifies 27 Loci Influencing Concentrations of Circulating Cytokines and Growth Factors.

rs11110077 in ANKS1B gene and Memory, Short-Term PMID 21107309 2011 Genome-wide pharmacogenomic study of neurocognition as an indicator of antipsychotic treatment response in schizophrenia.

rs11110004 in ANKS1B gene and Reduced ejection fraction PMID 31113495 2019 Genetics of heart rate in heart failure patients (GenHRate).

rs2175523 in ANKS1B gene and Serum albumin measurement PMID 23281178 2013 A genome-wide assessment of variability in human serum metabolism.

rs12227147 in ANKS1B gene and Waist-Hip Ratio PMID 29868124 2018 Genetics of Obesity Traits: A Bivariate Genome-Wide Association Analysis.

rs11110004 in ANKS1B gene and heart rate PMID 31113495 2019 Genetics of heart rate in heart failure patients (GenHRate).

rs7960581 in ANKS1B gene and response to ACE inhibitor PMID 28030426 2017 Meta-analysis of genome-wide association studies on the intolerance of angiotensin-converting enzyme inhibitors.