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GeneE
26 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
ANK3
ankyrin 3
Chromosome 10 Β· 10q21.2
NCBI Gene: 288Ensembl: ENSG00000151150.23HGNC: HGNC:494UniProt: Q12955
183PubMed Papers
21Diseases
0Drugs
29Pathogenic Variants
FUNCTIONAL ROLE
Highly ConstrainedHub Gene
RESEARCH IMPACT
Trending
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
establishment of protein localizationplasma membrane organizationbicellular tight junctionaxon initial segmentintellectual disability-hypotonia-spasticity-sleep disorder syndromeIntellectual disability - hypotonia - spasticity - sleep disorderbipolar disordergenetic disorder
✦AI Summary

ANK3 encodes ankyrin-G, a neuron-enriched scaffolding protein critical for neuronal development and cellular organization 1. In neurons, ankyrin-G regulates axonal polarity and ion channel clustering at axon initial segments and nodes of Ranvier, while also functioning in oligodendrocytes to facilitate paranodal junction assembly 2. The protein may serve as part of a membrane cytoskeleton in association with beta-spectrin [UniProt]. ANK3 variants are associated with multiple neuropsychiatric and developmental disorders. Genome-wide association studies and meta-analyses consistently implicate ANK3 polymorphisms (rs10994336, rs1938526, rs10761482) in bipolar disorder susceptibility 3, with rs10994336 linked to altered facial affect processing via early event-related potentials 4. ANK3 variants also confer schizophrenia risk across populations 15, supporting shared genetic mechanisms between bipolar disorder and schizophrenia. Beyond neuropsychiatric disease, biallelic and monoallelic ANK3 variants cause syndromic intellectual disability with language delay, autism spectrum disorder, motor impairment, and epilepsy, with biallelic variants producing more severe phenotypes 6. Additionally, ANK3 variants are implicated in ocular coloboma pathogenesis during early eye development 7. These findings underscore ANK3's essential roles in nervous system development, neural connectivity, and its dysfunction in multiple neurodevelopmental and psychiatric conditions.

Sources cited
1
ANK3 SNPs rs10994336 and rs1938526 are associated with increased bipolar disorder susceptibility
PMID: 29068871
2
Mono- and biallelic ANK3 variants cause syndromic intellectual disability with specific neurodevelopmental phenotypes; biallelic variants produce more severe phenotypes including ataxia
PMID: 38988293
3
ANK3 is a novel ocular coloboma gene; ANK3 knockdown causes coloboma and microphthalmia phenotypes in zebrafish
PMID: 35034853
4
ANK3 rs10761482 T-allele is significantly associated with schizophrenia risk in multiple populations
PMID: 26227746
5
ANK3 polymorphisms rs10761482 and rs10994336 are associated with schizophrenia; ANK3 is a major neuron-enriched gene involved in neuronal disconnectivity
PMID: 23109352
6
AnkyrinG regulates polarity and ion channel clustering at axon initial segments and nodes of Ranvier; oligodendrocyte AnkG maintains axoglial interactions and contributes to bipolar disorder-like phenotypes
PMID: 39738113
7
ANK3 rs10994336 risk allele is linked to altered facial affect processing as measured by event-related potentials
PMID: 27177275
Disease Associationsβ“˜21
intellectual disability-hypotonia-spasticity-sleep disorder syndromeOpen Targets
0.70Moderate
Intellectual disability - hypotonia - spasticity - sleep disorderOpen Targets
0.64Moderate
bipolar disorderOpen Targets
0.52Moderate
genetic disorderOpen Targets
0.47Moderate
smoking initiationOpen Targets
0.41Moderate
Neurodevelopmental disorderOpen Targets
0.39Weak
classic medulloblastomaOpen Targets
0.34Weak
pernicious anemiaOpen Targets
0.33Weak
device complicationOpen Targets
0.33Weak
ulcerative colitisOpen Targets
0.33Weak
bipolar I disorderOpen Targets
0.33Weak
Benign Thyroid Gland NeoplasmOpen Targets
0.32Weak
diabetes mellitusOpen Targets
0.32Weak
glomerulonephritisOpen Targets
0.32Weak
smoking cessationOpen Targets
0.29Weak
schizophreniaOpen Targets
0.29Weak
complicationOpen Targets
0.29Weak
Abruptio PlacentaeOpen Targets
0.29Weak
placental retentionOpen Targets
0.29Weak
major depressive disorderOpen Targets
0.28Weak
Intellectual developmental disorder, autosomal recessive 37UniProt
Pathogenic Variants29
NM_020987.5(ANK3):c.4365_4368del (p.Arg1456fs)Pathogenic
not provided|Intellectual disability-hypotonia-spasticity-sleep disorder syndrome
β˜…β˜…β˜†β˜†2025β†’ Residue 1456
NM_020987.5(ANK3):c.3526C>T (p.Arg1176Ter)Pathogenic
Inborn genetic diseases
β˜…β˜†β˜†β˜†2025β†’ Residue 1176
NM_020987.5(ANK3):c.3589del (p.Ala1197fs)Pathogenic
Intellectual disability-hypotonia-spasticity-sleep disorder syndrome
β˜…β˜†β˜†β˜†2025β†’ Residue 1197
NM_020987.5(ANK3):c.8433dup (p.Gln2812fs)Pathogenic
not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 2812
NM_020987.5(ANK3):c.3163C>T (p.Gln1055Ter)Pathogenic
Neurodevelopmental disorder
β˜…β˜†β˜†β˜†2025β†’ Residue 1055
NM_020987.5(ANK3):c.12487C>T (p.Arg4163Ter)Pathogenic
not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 4163
NM_020987.5(ANK3):c.2706C>G (p.Tyr902Ter)Likely pathogenic
Intellectual disability-hypotonia-spasticity-sleep disorder syndrome
β˜…β˜†β˜†β˜†2025β†’ Residue 902
NM_020987.5(ANK3):c.212_216+1delLikely pathogenic
not provided
β˜…β˜†β˜†β˜†2024
NM_020987.5(ANK3):c.2093T>C (p.Leu698Pro)Likely pathogenic
not provided
β˜…β˜†β˜†β˜†2024β†’ Residue 698
NM_020987.5(ANK3):c.217-2A>GLikely pathogenic
not provided
β˜…β˜†β˜†β˜†2024
NM_020987.5(ANK3):c.9349dup (p.Ile3117fs)Pathogenic
not provided
β˜…β˜†β˜†β˜†2024β†’ Residue 3117
NM_020987.5(ANK3):c.10645C>T (p.Arg3549Ter)Likely pathogenic
not provided
β˜…β˜†β˜†β˜†2024β†’ Residue 3549
NM_020987.5(ANK3):c.4867C>T (p.Arg1623Ter)Likely pathogenic
Intellectual disability-hypotonia-spasticity-sleep disorder syndrome
β˜…β˜†β˜†β˜†2024β†’ Residue 1623
NM_020987.5(ANK3):c.2948+1G>APathogenic
not provided
β˜…β˜†β˜†β˜†2024
NM_020987.5(ANK3):c.855dup (p.Leu286fs)Pathogenic
Inborn genetic diseases
β˜…β˜†β˜†β˜†2023β†’ Residue 286
NM_020987.5(ANK3):c.5843_5844dup (p.Glu1949Ter)Pathogenic
ANK3-related disorder
β˜…β˜†β˜†β˜†2023β†’ Residue 1949
NM_020987.5(ANK3):c.631C>T (p.Arg211Ter)Likely pathogenic
Intellectual disability-hypotonia-spasticity-sleep disorder syndrome
β˜…β˜†β˜†β˜†2023β†’ Residue 211
NM_020987.5(ANK3):c.7068dup (p.Glu2357fs)Pathogenic
Classic medulloblastoma
β˜…β˜†β˜†β˜†2022β†’ Residue 2357
NM_020987.5(ANK3):c.12059del (p.Lys4020fs)Pathogenic
not provided
β˜…β˜†β˜†β˜†2022β†’ Residue 4020
NM_020987.5(ANK3):c.93del (p.Ser32fs)Pathogenic
not provided
β˜…β˜†β˜†β˜†2022β†’ Residue 32
View on ClinVar β†—
Related Genes
SPTBProtein interaction100%NFASCProtein interaction99%ITPR3Protein interaction98%TTNProtein interaction98%NRCAMProtein interaction98%GABARAPProtein interaction98%
Tissue Expression6 tissues
Heart
100%
Brain
51%
Liver
7%
Ovary
7%
Lung
5%
Bone Marrow
3%
Gene Interaction Network
Click a node to explore
ANK3SPTBNFASCITPR3TTNNRCAMGABARAP
PROTEIN STRUCTURE
Preparing viewer…
PDB4O6X Β· 2.10 Γ… Β· X-ray
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
0.16Highly Constrained
pLIβ“˜
1.00Intolerant
Observed/Expected LoF0.12 [0.10–0.16]
RankingsWhere ANK3 stands among ~20K protein-coding genes
  • #2,361of 20,598
    Most Researched183 Β· top quartile
  • #1,836of 5,498
    Most Pathogenic Variants29
  • #254of 17,882
    Most Constrained (LOEUF)0.16 Β· top 5%
Genes detectedANK3
Sources retrieved26 papers
Response timeβ€”
πŸ“„ Sources
26β–Ό
1
ANK3 gene polymorphisms and bipolar disorder: a meta-analysis.
PMID: 29068871
Psychiatr Genet Β· 2017
1.00
2
The phenotypic and genotypic spectrum of individuals with mono- or biallelic ANK3 variants.
PMID: 38988293
Clin Genet Β· 2024
0.90
3
Identification of 4 novel human ocular coloboma genes ANK3, BMPR1B, PDGFRA, and CDH4 through evolutionary conserved vertebrate gene analysis.
PMID: 35034853
Genet Med Β· 2022
0.80
4
Genetic analysis of SNPs in CACNA1C and ANK3 gene with schizophrenia: A comprehensive meta-analysis.
PMID: 26227746
Am J Med Genet B Neuropsychiatr Genet Β· 2015
0.70
5
ANK3, CACNA1C and ZNF804A gene variants in bipolar disorders and psychosis subphenotype.
PMID: 21767209
World J Biol Psychiatry Β· 2011
0.68