Gene: ANK3

Alternate names for this Gene: ANKYRIN-G|MRT37

Gene Summary: Ankyrins are a family of proteins that are believed to link the integral membrane proteins to the underlying spectrin-actin cytoskeleton and play key roles in activities such as cell motility, activation, proliferation, contact, and the maintenance of specialized membrane domains. Multiple isoforms of ankyrin with different affinities for various target proteins are expressed in a tissue-specific, developmentally regulated manner. Most ankyrins are typically composed of three structural domains: an amino-terminal domain containing multiple ankyrin repeats; a central region with a highly conserved spectrin binding domain; and a carboxy-terminal regulatory domain which is the least conserved and subject to variation. Ankyrin 3 is an immunologically distinct gene product from ankyrins 1 and 2, and was originally found at the axonal initial segment and nodes of Ranvier of neurons in the central and peripheral nervous systems. Multiple transcript variants encoding different isoforms have been found for this gene.

Gene is located in Chromosome: 10

Location in Chromosome : 10q21.2

Description of this Gene: ankyrin 3

Type of Gene: protein-coding

rs1002442 in ANK3 gene and AMYOTROPHIC LATERAL SCLEROSIS 1 PMID 24529757 2014 Genome-wide association study combining pathway analysis for typical sporadic amyotrophic lateral sclerosis in Chinese Han populations.

rs1002442 in ANK3 gene and AMYOTROPHIC LATERAL SCLEROSIS 1, AUTOSOMAL RECESSIVE PMID 24529757 2014 Genome-wide association study combining pathway analysis for typical sporadic amyotrophic lateral sclerosis in Chinese Han populations.

rs1002442 in ANK3 gene and AMYOTROPHIC LATERAL SCLEROSIS 6 (disorder) PMID 24529757 2014 Genome-wide association study combining pathway analysis for typical sporadic amyotrophic lateral sclerosis in Chinese Han populations.

rs10509125 in ANK3 gene and Abnormal behavior PMID 25897833 2015 Genome-wide association study of behavioural and psychiatric features in human prion disease.

rs10994278 in ANK3 gene and Acute transient psychotic disorder PMID 31553412 2019 Association of Genetic Liability to Psychotic Experiences With Neuropsychotic Disorders and Traits.

rs16915102 in ANK3 gene and Adolescent idiopathic scoliosis PMID 30019117 2018 The coexistence of copy number variations (CNVs) and single nucleotide polymorphisms (SNPs) at a locus can result in distorted calculations of the significance in associating SNPs to disease.

rs1002442 in ANK3 gene and Amyotrophic Lateral Sclerosis, Sporadic PMID 24529757 2014 Genome-wide association study combining pathway analysis for typical sporadic amyotrophic lateral sclerosis in Chinese Han populations.

rs10994359 in ANK3 gene and Attention deficit hyperactivity disorder PMID 23453885 2013 Identification of risk loci with shared effects on five major psychiatric disorders: a genome-wide analysis.

rs10509129 in ANK3 gene and Bipolar Disorder PMID 24618891 2014 Genome-wide association study reveals two new risk loci for bipolar disorder.

PMID 28072414 2017 Evidence for genetic heterogeneity between clinical subtypes of bipolar disorder.

PMID 31043756 2019 Genome-wide association study identifies 30 loci associated with bipolar disorder.

PMID 18711365 2008 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).

PMID 20351715 2011 Meta-analysis of genome-wide association data of bipolar disorder and major depressive disorder.

PMID 23637625 2013 Improved detection of common variants associated with schizophrenia and bipolar disorder using pleiotropy-informed conditional false discovery rate.

PMID 23453885 2013 Identification of risk loci with shared effects on five major psychiatric disorders: a genome-wide analysis.

PMID 21926972 2011 Large-scale genome-wide association analysis of bipolar disorder identifies a new susceptibility locus near ODZ4.

PMID 22182935 2013 Genome-wide association study meta-analysis of European and Asian-ancestry samples identifies three novel loci associated with bipolar disorder.

rs10821746 in ANK3 gene and Body Height PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

PMID 31562340 2019 Characterizing rare and low-frequency height-associated variants in the Japanese population.

rs7070670 in ANK3 gene and Body mass index PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

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

rs10994359 in ANK3 gene and Child Development Disorders, Pervasive PMID 23453885 2013 Identification of risk loci with shared effects on five major psychiatric disorders: a genome-wide analysis.

rs10994318 in ANK3 gene and Depressed bipolar I disorder PMID 31043756 2019 Genome-wide association study identifies 30 loci associated with bipolar disorder.

rs10761530 in ANK3 gene and Diastolic blood pressure PMID 30224653 2018 Genetic analysis of over 1 million people identifies 535 new loci associated with blood pressure traits.

rs3793859 in ANK3 gene and Leukemia, Myelocytic, Acute PMID 27903959 2017 Genome-wide haplotype association study identify the FGFR2 gene as a risk gene for acute myeloid leukemia.

rs10994336 in ANK3 gene and Major Depressive Disorder PMID 20351715 2011 Meta-analysis of genome-wide association data of bipolar disorder and major depressive disorder.

PMID 23453885 2013 Identification of risk loci with shared effects on five major psychiatric disorders: a genome-wide analysis.

rs10509125 in ANK3 gene and Prion Diseases PMID 25897833 2015 Genome-wide association study of behavioural and psychiatric features in human prion disease.

PMID 22210626 2012 Genome-wide association study in multiple human prion diseases suggests genetic risk factors additional to PRNP.

rs16915102 in ANK3 gene and SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3 PMID 30019117 2018 The coexistence of copy number variations (CNVs) and single nucleotide polymorphisms (SNPs) at a locus can result in distorted calculations of the significance in associating SNPs to disease.

rs10994359 in ANK3 gene and Schizophrenia PMID 23453885 2013 Identification of risk loci with shared effects on five major psychiatric disorders: a genome-wide analysis.

PMID 21926974 2011 Genome-wide association study identifies five new schizophrenia loci.

PMID 22688191 2012 Genome-wide association study in a Swedish population yields support for greater CNV and MHC involvement in schizophrenia compared with bipolar disorder.

rs10821808 in ANK3 gene and Systolic Pressure PMID 30487518 2018 Interethnic analyses of blood pressure loci in populations of East Asian and European descent.

rs7070670 in ANK3 gene and Waist-Hip Ratio PMID 30239722 2019 Meta-analysis of genome-wide association studies for body fat distribution in 694 649 individuals of European ancestry.