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Astrotactin 2

ASTN2, astrotactin 2
This gene encodes a protein that is expressed in the brain and may function in neuronal migration, based on functional studies of the related astrotactin 1 gene in human and mouse. A deletion at this locus has been associated with schizophrenia. Multiple transcript variants encoding different proteins have been found for this locus. [provided by RefSeq, May 2010] (from NCBI)
Top mentioned proteins: CAN, HAD, TRIM32, TOP, SET
Papers on ASTN2
Detection of TRIM32 deletions in LGMD patients analyzed by a combined strategy of CGH array and massively parallel sequencing.
Cossée et al., Paris, France. In Eur J Hum Genet, Jul 2015
Of interest, the deletion removes part of the ASTN2 gene, a large gene in which TRIM32 is nested.
Investigation of association between hip osteoarthritis susceptibility loci and radiographic proximal femur shape.
Wallis et al., Cambridge, United Kingdom. In Arthritis Rheumatol, May 2015
RESULTS: The univariate analysis identified association between rs4836732 (within the ASTN2 gene) and mode 5 of the female SSM (P = 0.0016) and between rs6976 (within the GLT8D1 gene) and mode 7 of the mixed-sex SSM (P = 0.0003).
Polymorphisms within ASTN2 gene are associated with age at onset of Alzheimer's disease.
Xu et al., United States. In J Neural Transm, May 2015
The most significant hit within a known gene, the neuronal protein astrotactin 2 (ASTN2), was SNP rs1334071 (p = 8.74 × 10(-4)).
iCLIP identifies novel roles for SAFB1 in regulating RNA processing and neuronal function.
Uney et al., Kuala Lumpur, Malaysia. In Bmc Biol, 2014
For example, we found that the isoform-specific expression of neural cell adhesion molecule (NCAM1) and ASTN2 was influenced by SAFB1 and that the processing of miR-19a from the miR-17-92 cluster was regulated by SAFB1.
Pathway-Based Genome-Wide Association Studies for Plasma Triglycerides in Obese Females and Normal-Weight Controls.
Li et al., Tianjin, China. In Plos One, 2014
Significant associations were found between ASTN2 gene SNPs and plasma triglyceride levels (rs7035794, P = 2.24×10-10).
Sixteen new lung function signals identified through 1000 Genomes Project reference panel imputation.
Tobin et al., London, United Kingdom. In Nat Commun, 2014
We identify 14 novel loci (P<5 × 10(-8)) in or near ENSA, RNU5F-1, KCNS3, AK097794, ASTN2, LHX3, CCDC91, TBX3, TRIP11, RIN3, TEKT5, LTBP4, MN1 and AP1S2, and two novel signals at known loci NPNT and GPR126, providing a basis for new understanding of the genetic determinants of these traits and pulmonary diseases in which they are altered.
Identification of Laying-Related SNP Markers in Geese Using RAD Sequencing.
Chen et al., Nanjing, China. In Plos One, 2014
Five novel genes were cloned for geese which harbored the candidate laying-related SNP, including membrane associated guanylate kinase (MAGI-1), KIAA1462, Rho GTPase activating protein 21 (ARHGAP21), acyl-CoA synthetase family member 2 (ACSF2), astrotactin 2 (ASTN2).
Disruption of the ASTN2/TRIM32 locus at 9q33.1 is a risk factor in males for autism spectrum disorders, ADHD and other neurodevelopmental phenotypes.
Scherer et al., France. In Hum Mol Genet, 2014
Rare copy number variants (CNVs) disrupting ASTN2 or both ASTN2 and TRIM32 have been reported at 9q33.1 by genome-wide studies in a few individuals with neurodevelopmental disorders (NDDs).
Accurate gene expression-based biodosimetry using a minimal set of human gene transcripts.
Auner et al., Detroit, United States. In Int J Radiat Oncol Biol Phys, 2014
RESULTS: Only 3 to 4 different gene transcripts, ASTN2, CDKN1A, GDF15, and ATM, are needed to explain ≥ 0.87 of the variance (R(2)).
Epilepsy associated with autism and attention deficit hyperactivity disorder: is there a genetic link?
Curatolo et al., Roma, Italy. In Brain Dev, 2014
The majority of the candidate genes are involved in synaptic formation/remodeling/maintenance (NRX1, CNTN4, DCLK2, CNTNAP2, TRIM32, ASTN2, CTNTN5, SYN1), neurotransmission (SYNGAP1, GABRG1, CHRNA7), or DNA methylation/chromatin remodeling (MBD5).
Endometriosis is associated with rare copy number variants.
Albertsen et al., Salt Lake City, United States. In Plos One, 2013
Two SNPs within the 22 CNVRs show significant genotypic association with endometriosis after adjusting for multiple testing; rs758316 in DPP6 on 7q36.2 (P = 0.0045) and rs4837864 in ASTN2 on 9q33.1 (P = 0.0002).
Identification of new susceptibility loci for osteoarthritis (arcOGEN): a genome-wide association study.
Loughlin et al., Cambridge, United Kingdom. In Lancet, 2012
Other significant loci were on chromosome 9 close to ASTN2, chromosome 6 between FILIP1 and SENP6, chromosome 12 close to KLHDC5 and PTHLH, and in another region of chromosome 12 close to CHST11.
Genome-wide association analysis identifies susceptibility loci for migraine without aura.
International Headache Genetics Consortium et al., München, Germany. In Nat Genet, 2012
In addition, SNPs at the PHACTR1 and ASTN2 loci showed suggestive evidence of replication (P = 0.01; combined P = 3.20 × 10(-8) and P = 0.02; combined P = 3.86 × 10(-8), respectively).
Common variants at 12q14 and 12q24 are associated with hippocampal volume.
Cohorts for Heart and Aging Research in Genomic Epidemiology Consortium et al., Seattle, United States. In Nat Genet, 2012
Single nucleotide polymorphism in ASTN2 gene is associated with cognition disorders.
Autism genome-wide copy number variation reveals ubiquitin and neuronal genes.
Hakonarson et al., Philadelphia, United States. In Nature, 2009
10) and CNTN4 (refs 11, 12), several new susceptibility genes encoding neuronal cell-adhesion molecules, including NLGN1 and ASTN2, were enriched with CNVs in ASD cases compared to controls (P = 9.5 x 10(-3)).
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