Gene: ATXN2L
Alternate names for this Gene: A2D|A2LG|A2LP|A2RP
Gene Summary: This gene encodes an ataxin type 2 related protein of unknown function. This protein is a member of the spinocerebellar ataxia (SCAs) family, which is associated with a complex group of neurodegenerative disorders. Several alternatively spliced transcripts encoding different isoforms have been found for this gene.
Gene is located in Chromosome: 16
Location in Chromosome : 16p11.2
Description of this Gene: ataxin 2 like
Type of Gene: protein-coding
rs12928404 in
ATXN2L gene and
AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 1
PMID 26301688 2015 Meta-analysis of shared genetic architecture across ten pediatric autoimmune diseases.
rs12928404 in
ATXN2L gene and
AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 2
PMID 26301688 2015 Meta-analysis of shared genetic architecture across ten pediatric autoimmune diseases.
rs12928404 in
ATXN2L gene and
AUTOIMMUNE DISEASE, SUSCEPTIBILITY TO, 6
PMID 26301688 2015 Meta-analysis of shared genetic architecture across ten pediatric autoimmune diseases.
rs12928404 in
ATXN2L gene and
Ankylosing spondylitis
PMID 26301688 2015 Meta-analysis of shared genetic architecture across ten pediatric autoimmune diseases.
rs12928404 in
ATXN2L gene and
Autoimmune Diseases
PMID 26301688 2015 Meta-analysis of shared genetic architecture across ten pediatric autoimmune diseases.
rs12928404 in
ATXN2L gene and
Autoimmune thyroiditis
PMID 26301688 2015 Meta-analysis of shared genetic architecture across ten pediatric autoimmune diseases.
rs8062405 in
ATXN2L gene and
Body Weight
PMID 28552196 2017 Whole-Genome Sequencing Coupled to Imputation Discovers Genetic Signals for Anthropometric Traits.
rs12325113 in
ATXN2L gene and
Body mass index
PMID 28448500 2017 Genome-wide physical activity interactions in adiposity - A meta-analysis of 200,452 adults.
PMID 30108127 2018 A Large Multiethnic Genome-Wide Association Study of Adult Body Mass Index Identifies Novel Loci.
PMID 28552196 2017 Whole-Genome Sequencing Coupled to Imputation Discovers Genetic Signals for Anthropometric Traits.
rs12928404 in
ATXN2L gene and
Celiac Disease
PMID 26301688 2015 Meta-analysis of shared genetic architecture across ten pediatric autoimmune diseases.
rs12928404 in
ATXN2L gene and
Common Variable Immunodeficiency
PMID 26301688 2015 Meta-analysis of shared genetic architecture across ten pediatric autoimmune diseases.
rs12928404 in
ATXN2L gene and
Crohn Disease
PMID 26301688 2015 Meta-analysis of shared genetic architecture across ten pediatric autoimmune diseases.
rs12928404 in
ATXN2L gene and
Diabetes Mellitus, Insulin-Dependent
PMID 26301688 2015 Meta-analysis of shared genetic architecture across ten pediatric autoimmune diseases.
rs8049439 in
ATXN2L gene and
Inflammatory Bowel Diseases
PMID 19915574 2009 We have identified five new regions associated with early-onset IBD susceptibility, including 16p11 near the cytokine gene IL27 (rs8049439, P = 2.41 x 10(-9)), 22q12 (rs2412973, P = 1.55 x 10(-9)), 10q22 (rs1250550, P = 5.63 x 10(-9)), 2q37 (rs4676410, P = 3.64 x 10(-8)) and 19q13.11 (rs10500264, P = 4.26 x 10(-10)).
rs12928404 in
ATXN2L gene and
Intelligence
PMID 28530673 2017 Genome-wide association meta-analysis of 78,308 individuals identifies new loci and genes influencing human intelligence.
PMID 29520040 2019 Biological annotation of genetic loci associated with intelligence in a meta-analysis of 87,740 individuals.
PMID 29326435 2019 A combined analysis of genetically correlated traits identifies 187 loci and a role for neurogenesis and myelination in intelligence.
PMID 29186694 2017 Large-Scale Cognitive GWAS Meta-Analysis Reveals Tissue-Specific Neural Expression and Potential Nootropic Drug Targets.
rs12928404 in
ATXN2L gene and
Juvenile arthritis
PMID 26301688 2015 Meta-analysis of shared genetic architecture across ten pediatric autoimmune diseases.
rs12928404 in
ATXN2L gene and
Lupus Erythematosus, Systemic
PMID 26301688 2015 Meta-analysis of shared genetic architecture across ten pediatric autoimmune diseases.
rs8049439 in
ATXN2L gene and
Multiple Sclerosis
PMID 22190364 2011 Genome-wide meta-analysis identifies novel multiple sclerosis susceptibility loci.
rs12325113 in
ATXN2L gene and
Physical Activity Measurement
PMID 28448500 2017 Genome-wide physical activity interactions in adiposity - A meta-analysis of 200,452 adults.
rs12928404 in
ATXN2L gene and
Psoriasis
PMID 26301688 2015 Meta-analysis of shared genetic architecture across ten pediatric autoimmune diseases.
rs12928404 in
ATXN2L gene and
Ulcerative Colitis
PMID 26301688 2015 Meta-analysis of shared genetic architecture across ten pediatric autoimmune diseases.
rs62036624 in
ATXN2L gene and
Waist Circumference
PMID 28552196 2017 Whole-Genome Sequencing Coupled to Imputation Discovers Genetic Signals for Anthropometric Traits.