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.