Database for Annotation, Visualization and Integrated Discovery 2.1
National Institute of Allergy and Infectious Disease
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DAVID Functional Annotation Table
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ankyrin 3(ANK3) ankyrin 3(ANK3) Related Genes Homo sapiens
CHROMOSOME 10,
CYTOBAND 10q21,
ENSEMBL_GENE_ID ENSG00000151150,
GENERIF_SUMMARY The ankyrin-B C-terminal domain determines activity of ankyrin-B/G chimeras, Ankyrin G, a key protein of membrane remodeling after axonal injury, colocalizes with voltage gated sodium channels in human neuroma., A propensity to overexpress ankyrin G after peripheral nerve trauma may turn out to be a factor in the development of painful neuromas and neuropathic pain., ankyrin-G plays a pleiotropic role in assembly of lateral membranes of bronchial epithelial cells, Altered expression is associated with therapy failure and death in patients with multiple types of cancer., ankyrin-G regulates neuronal excitability not only through clustering Nav channels but also by directly modifying their channel gating., Ankyrin G may have a role in Hutchinson-Gilford progeria syndrome, ankyrin-G and beta(2)-spectrin are functional partners in biogenesis of the lateral membrane of epithelial cells, E-cadherin requires both ankyrin-G and beta-2-spectrin for its cellular localization in early embryos as well as cultured epithelial cells., Significant association with late-onset Alzheimer's disease for 4 SNPs, Phosphorylation and ankyrin-G binding of the C-terminal domain regulate targeting and function of the ammonium transporter RhBG, To identify susceptibility loci for bipolar disorder, we tested 1.8 million variants in 4,387 cases and 6,209 controls and identified a region of strong association (rs10994336, P = 9.1 x 10(-9)) in ANK3 (ankyrin G)., Ankyrin facilitates intracellular trafficking of alpha1-Na+-K+-ATPase in polarized cells., This study strongly support ANK3 as a bipolar disorder susceptibility gene and suggest true allelic heterogeneity., The association of ANK3 with schizophrenia is intriguing in light of recent associations of ANK3 with bipolar disorder, thereby supporting the hypothesis of an overlap in genetic susceptibility between these psychopathological entities., there is genetic variation local to ANK3 gene affecting its expression, but that this variation is not responsible for increasing risk of bipolar disorder., results suggest that allelic variation in ANK3 impacts cognitive processes associated with signal detection and this mechanism may relate to risk for Bipolar Disorder, we did not find evidence for association between the bipolar disorder risk polymorphisms rs10994336 in the ANK3 gene and rs1006737 in the CACNA1C gene in migraine, These findings supported the association between ANK3 and bipolar disorder, and also suggested the genomic region around rs1938526 as a common risk locus across ethnicities., This study demonistreated that ANK3 genotype was associated with proneness to anhedonia., results support a specific genetic contribution of ANK3 to bipolar disorder though failed to replicate findings for schizophrenia., association of SNPs rs10994336 and rs9804190 with bipolar disorders and psychosis subphenotype, The ANK3 rs9804190 C allele increases the risk for schizophrenia by affecting ANK3 expression levels, These results further support that ANK3 is a susceptibility gene specific to bipolar disorder and that more than one risk locus is involved., loss of AnkG expression may prevent the arrival of Cx43 to its final destination., DNA sequencing revealed a novel low frequency (0.007) ANK3 SNP (ss469104599) which causes a non-conservative amino acid change at position 794 in the shorter isoforms of the ankyrin G protein., Individuals carrying the bipolar disorder risk T-allele of ANK3 showed significantly reduced sensitivity in target detection, increased errors of commission, and atypical response latency variability., The findings of this study do not support a strong genetic link between bipolar disorder and major depressive disorder for ANK3 genes., data established a role for ankG in the human adaptive immune response against resident brain proteins, and they show that ankG immunization reduces brain beta-amyloid and its related neuropathology, These findings suggest a brain-specific cis-regulatory transcriptional effect of ANK3 that may be relevant to BD pathophysiology., An association between ANK3 mutations and autism spectrum disorder susceptibility., show novel expression of genes near regions of significantly associated SNPS, including TMEM26 and FOXA1 in airway epithelium and lung parenchyma, and ANK3 in alveolar macrophages in COPD, study concludes that ANK3 gene has a major influence on susceptibility to schizophrenia across populations, Cysteine 70 of ankyrin-G is S-palmitoylated and is required for function of ankyrin-G in membrane domain assembly., inactivating mutations in the Ankyrin 3 (ANK3) gene in patients with severe cognitive deficits., haplotype associated with bipolar disorder in Latino populations, A role of ANK3 in risk of stress-related and externalizing disorders, beyond its previous associations with bipolar disorder and schizophrenia., ANK3 risk allele rs1938526 appears to be associated with general cognitive impairment and widespread cortical thinning in patients with first-episode psychosis, ANK3 SNP associated with brain connectivity changes in bipolar disorder., results indicated that genetic variation within ANK3 may exert gene-specific modulating effects onworking memory deficits in schizophrenia., These resultsindicatethatariskvariantwithin ANK3 may have an impact on neurocog- nitive function,suggesting a mechanism by which ANK3 confers risk for bipolar disorder., This study demonistrated that ANK3 Bipolar disorder-associated variant rs139972937, responsible for an asparagine to serine. change (p = 0.042)., Here, we show that ANK3 gene expression in blood is significantly increased in bipolar disorder and schizophrenia compared with healthy controls., Study showed a significant association between LMAN2L and risk of both bipolar disorder and schizophrenia, Data suggest that death domain of ankyrin G (ANK3-DD; located near C-terminus) exhibits C-terminal tail that curves back so that aromatic ring of a phenylalanine residue anchors flexible tail onto core domain; ANK3-DD exists as monomer in solution., ANK3 rs10761482 showed a significant association with bipolar disorder, Kidney AE1 actually associates with epithelial ankyrin-G and renal ammonium transporter RhBG, which also binds ankyrin-G., ANK3 bipolar-risk polymorphisms are associated with hyperactivation in the ventral anterior cingulate cortex in bipolar disorder., Phosphorylation of KCNQ2 and KCNQ3 anchor domains by protein kinase CK2 augments binding to AnkG., we investigated the association of CACNA1C and ANK3 with SZ using meta-analytic techniques., ankyrin-G associates with and inhibits the endocytosis of VE-cadherin cis dimers.,
OFFICIAL_GENE_SYMBOL ANK3,
OMIM_DISEASE Mental retardation, autosomal recessive, 37,
SP_COMMENT alternative products:A number of isoforms are produced, function:Membrane-cytoskeleton linker. The neural-specific isoforms may participate in the maintenance/targeting of ion channels and cell adhesion molecules at the nodes of Ranvier and axonal initial segments., online information:Ankyrin entry, similarity:Contains 1 death domain., similarity:Contains 1 ZU5 domain., similarity:Contains 23 ANK repeats., subunit:Neural-specific isoforms may be a constituent of a neurofascin/NRCAM/ankyrin G complex. Interacts with RHBG., tissue specificity:Expressed in brain and other tissues. Isoform 1 is neural-specific.,