Free for academic non-profit institutions. Other users need a Commercial license

Aliases for ANK3 Gene

Aliases for ANK3 Gene

  • Ankyrin 3, Node Of Ranvier (Ankyrin G) 2 3
  • Ankyrin-3 2 3
  • ANKYRIN-G 3 4
  • MRT37 3 6
  • Node Of Ranvier 2
  • Ankyrin G119 3
  • Ankyrin-G 2
  • ANK-3 4

External Ids for ANK3 Gene

Previous GeneCards Identifiers for ANK3 Gene

  • GC10M060584
  • GC10M060813
  • GC10M061680
  • GC10M061132
  • GC10M061458
  • GC10M061788
  • GC10M055775

Summaries for ANK3 Gene

Entrez Gene Summary for ANK3 Gene

  • 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.[provided by RefSeq, Feb 2011]

GeneCards Summary for ANK3 Gene

ANK3 (Ankyrin 3, Node Of Ranvier (Ankyrin G)) is a Protein Coding gene. Diseases associated with ANK3 include mental retardation, autosomal recessive, 37 and intellectual disability - hypotonia - spasticity - sleep disorder. Among its related pathways are Proteoglycans in cancer and L1CAM interactions. GO annotations related to this gene include structural constituent of cytoskeleton and protein binding, bridging. An important paralog of this gene is ANKRD52.

UniProtKB/Swiss-Prot for ANK3 Gene

  • In skeletal muscle, required for costamere localization of DMD and betaDAG1 (By similarity). Membrane-cytoskeleton linker. May participate in the maintenance/targeting of ion channels and cell adhesion molecules at the nodes of Ranvier and axonal initial segments. Regulates KCNA1 channel activity in function of dietary Mg(2+) levels, and thereby contributes to the regulation of renal Mg(2+) reabsorption (PubMed:23903368).

  • Isoform 5: May be part of a Golgi-specific membrane cytoskeleton in association with beta-spectrin.

Gene Wiki entry for ANK3 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ANK3 Gene

Genomics for ANK3 Gene

Regulatory Elements for ANK3 Gene

Genomic Location for ANK3 Gene

Start:
60,026,298 bp from pter
End:
60,733,526 bp from pter
Size:
707,229 bases
Orientation:
Minus strand

Genomic View for ANK3 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for ANK3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ANK3 Gene

Proteins for ANK3 Gene

  • Protein details for ANK3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q12955-ANK3_HUMAN
    Recommended name:
    Ankyrin-3
    Protein Accession:
    Q12955
    Secondary Accessions:
    • B1AQT2
    • B4DIL1
    • E9PE32
    • Q13484
    • Q5CZH9
    • Q5VXD5
    • Q7Z3G4
    • Q9H0P5

    Protein attributes for ANK3 Gene

    Size:
    4377 amino acids
    Molecular mass:
    480410 Da
    Quaternary structure:
    • Directly interacts with DMD and betaDAG1. This interaction does not interfere with binding between DMD and betaDAG1. It is also required for DMD and betaDAG1 retention at costameres (By similarity). Interacts (via N-terminal ANK repeats) with SCHIP1 isoform 5 (via C-terminus); this interaction is required for the localization at axon initial segments (AISs) and nodes of Ranvier (NRs) (By similarity). May be a constituent of a neurofascin/NRCAM/ankyrin G complex. Interacts with RHBG (PubMed:15611082). Interacts with PLEC and FLNC (PubMed:21223964). Interacts with KCNA1; this inhibits channel activity (PubMed:23903368).

    Three dimensional structures from OCA and Proteopedia for ANK3 Gene

    Alternative splice isoforms for ANK3 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ANK3 Gene

Proteomics data for ANK3 Gene at MOPED

Post-translational modifications for ANK3 Gene

  • Ubiquitination at Lys4338
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for ANK3 Gene

Domains for ANK3 Gene

Gene Families for ANK3 Gene

HGNC:
  • ANKRD :Ankyrin repeat domain containing

Graphical View of Domain Structure for InterPro Entry

Q12955

UniProtKB/Swiss-Prot:

ANK3_HUMAN :
  • Q12955
Domain:
  • The tandem configuration of the two ZU5 and the UPA domains forms a structural supramodule termed ZZU. ZU5-1 mediates interaction with beta-spectrin, and the ZU5-1/UPA interface is required for ankyrins function other than binding to spectrin (By similarity).
  • Contains 1 death domain.
  • Contains 2 ZU5 domains.
Similarity:
  • Contains 23 ANK repeats.
genes like me logo Genes that share domains with ANK3: view

Function for ANK3 Gene

Molecular function for ANK3 Gene

GENATLAS Biochemistry: ankyrin 3,non erythrocytic,intermediate filament associated protein (IFAP,type III),expressed in the axonal initial segment and Ranvier nodes in the central and peripheral nervous system
UniProtKB/Swiss-Prot Function: In skeletal muscle, required for costamere localization of DMD and betaDAG1 (By similarity). Membrane-cytoskeleton linker. May participate in the maintenance/targeting of ion channels and cell adhesion molecules at the nodes of Ranvier and axonal initial segments. Regulates KCNA1 channel activity in function of dietary Mg(2+) levels, and thereby contributes to the regulation of renal Mg(2+) reabsorption (PubMed:23903368).
UniProtKB/Swiss-Prot Function: Isoform 5: May be part of a Golgi-specific membrane cytoskeleton in association with beta-spectrin.

Gene Ontology (GO) - Molecular Function for ANK3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005200 structural constituent of cytoskeleton IMP 17620337
GO:0005515 protein binding IPI 15231748
GO:0008092 cytoskeletal protein binding ISS 21223964
GO:0030507 spectrin binding ISS --
GO:0030674 protein binding, bridging ISS --
genes like me logo Genes that share ontologies with ANK3: view
genes like me logo Genes that share phenotypes with ANK3: view

Animal Models for ANK3 Gene

MGI Knock Outs for ANK3:

Animal Model Products

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for ANK3

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , miRNA , Transcription Factor Targeting and HOMER Transcription for ANK3 Gene

Localization for ANK3 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ANK3 Gene

Cytoplasm, cytoskeleton. Cell projection, axon. Cell membrane, sarcolemma. Cell junction, synapse, postsynaptic cell membrane. Lysosome. Note=In skeletal muscle, localized at costameres and neuromuscular junctions. In macrophages, associated with lysosomes. {ECO:0000250}.
Isoform 5: Cytoplasm, cytoskeleton. Golgi apparatus.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for ANK3 Gene COMPARTMENTS Subcellular localization image for ANK3 gene
Compartment Confidence
cytoskeleton 5
plasma membrane 5
nucleus 3
cytosol 2
lysosome 2
vacuole 2

Gene Ontology (GO) - Cellular Components for ANK3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005764 lysosome IEA --
GO:0005783 endoplasmic reticulum TAS 8666667
GO:0005794 Golgi apparatus IEA --
GO:0005886 plasma membrane ISS --
GO:0005923 colocalizes_with bicellular tight junction IDA 14757759
genes like me logo Genes that share ontologies with ANK3: view

Pathways for ANK3 Gene

genes like me logo Genes that share pathways with ANK3: view

Pathways by source for ANK3 Gene

Gene Ontology (GO) - Biological Process for ANK3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000281 mitotic cytokinesis IMP 14757759
GO:0007009 plasma membrane organization IMP 17620337
GO:0007016 cytoskeletal anchoring at plasma membrane TAS 7836469
GO:0007165 signal transduction IEA --
GO:0007409 axonogenesis ISS --
genes like me logo Genes that share ontologies with ANK3: view

Compounds for ANK3 Gene

(3) Novoseek inferred chemical compound relationships for ANK3 Gene

Compound -log(P) Hits PubMed IDs
sodium 55 23
inositol 1,4,5 trisphosphate 24.4 1
serine 0 1
genes like me logo Genes that share compounds with ANK3: view

Transcripts for ANK3 Gene

Unigene Clusters for ANK3 Gene

Ankyrin 3, node of Ranvier (ankyrin G):
Representative Sequences:

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for ANK3

Primer Products

  • OriGene qSTAR qPCR primer pairs in human,mouse,rat for ANK3

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for ANK3 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15a · 15b ^ 16 ^ 17 ^ 18a · 18b ^ 19 ^ 20 ^ 21 ^ 22a · 22b ^ 23 ^
SP1: - - - - - -
SP2: - - - -
SP3: - -
SP4:
SP5:
SP6:
SP7: - - -
SP8:
SP9:
SP10: -
SP11:
SP12:
SP13:

ExUns: 24a · 24b ^ 25 ^ 26 ^ 27a · 27b ^ 28 ^ 29 ^ 30 ^ 31a · 31b ^ 32 ^ 33 ^ 34a · 34b ^ 35 ^ 36a · 36b ^ 37 ^ 38a · 38b · 38c ^ 39 ^ 40a · 40b · 40c ^
SP1: - -
SP2: - - - -
SP3: -
SP4: - -
SP5:
SP6:
SP7:
SP8:
SP9: - - -
SP10:
SP11:
SP12:
SP13:

ExUns: 41 ^ 42a · 42b
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:
SP12:
SP13:

Relevant External Links for ANK3 Gene

GeneLoc Exon Structure for
ANK3
ECgene alternative splicing isoforms for
ANK3

Expression for ANK3 Gene

mRNA expression in normal human tissues for ANK3 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for ANK3 Gene

This gene is overexpressed in Brain - Cerebellar Hemisphere (6.6) and Brain - Cerebellum (5.3).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for ANK3 Gene

SOURCE GeneReport for Unigene cluster for ANK3 Gene Hs.499725

mRNA Expression by UniProt/SwissProt for ANK3 Gene

Q12955-ANK3_HUMAN
Tissue specificity: Expressed in brain, neurons, muscles and other tissues.
genes like me logo Genes that share expressions with ANK3: view

In Situ Assay Products

Orthologs for ANK3 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for ANK3 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia ANK3 35
  • 99.65 (n)
  • 99.77 (a)
ANK3 36
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia ANK3 36
  • 93 (a)
OneToOne
dog
(Canis familiaris)
Mammalia ANK3 35
  • 92.48 (n)
  • 94.56 (a)
ANK3 36
  • 95 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Ank3 35
  • 86.27 (n)
  • 94.97 (a)
Ank3 16
Ank3 36
  • 85 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia ANK3 36
  • 86 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 14 (a)
ManyToMany
rat
(Rattus norvegicus)
Mammalia Ank3 35
  • 85.77 (n)
  • 93.55 (a)
chicken
(Gallus gallus)
Aves ANK3 35
  • 80.36 (n)
  • 83.08 (a)
CHANK3 36
  • 79 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ANK3 36
  • 80 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.12223 35
tropical clawed frog
(Silurana tropicalis)
Amphibia ank3 35
  • 71.94 (n)
  • 74.45 (a)
zebrafish
(Danio rerio)
Actinopterygii ank3a 36
  • 63 (a)
OneToMany
ank3b 35
  • 65.93 (n)
  • 67.74 (a)
ank3b 36
  • 63 (a)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP009937 35
  • 57.91 (n)
  • 58.17 (a)
fruit fly
(Drosophila melanogaster)
Insecta Ank 35
  • 57.26 (n)
  • 55.18 (a)
Ank 36
  • 51 (a)
ManyToMany
Ank2 36
  • 12 (a)
ManyToMany
mask 37
  • 34 (a)
worm
(Caenorhabditis elegans)
Secernentea unc-44 36
  • 20 (a)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes SPT23 38
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 59 (a)
OneToMany
Species with no ortholog for ANK3:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for ANK3 Gene

ENSEMBL:
Gene Tree for ANK3 (if available)
TreeFam:
Gene Tree for ANK3 (if available)

Paralogs for ANK3 Gene

Paralogs for ANK3 Gene

genes like me logo Genes that share paralogs with ANK3: view

Variants for ANK3 Gene

Sequence variations from dbSNP and Humsavar for ANK3 Gene

SNP ID Clin Chr 10 pos Sequence Context AA Info Type MAF
rs8677 -- 60,028,485(-) GCTCT(A/T)ATGAC utr-variant-3-prime
rs9178 -- 60,029,129(-) GATTT(A/T)AAAAA utr-variant-3-prime
rs719095 -- 60,351,191(-) GCAAA(A/C)CTTTC intron-variant
rs719602 -- 60,327,162(-) TTGAT(G/T)CCACA intron-variant
rs719865 -- 60,614,879(-) CAGGT(A/G)CAGAG intron-variant

Structural Variations from Database of Genomic Variants (DGV) for ANK3 Gene

Variant ID Type Subtype PubMed ID
esv1003254 CNV Deletion 20482838
esv275322 CNV Loss 21479260
esv268335 CNV Insertion 20981092
esv273876 CNV Insertion 20981092
esv1506468 CNV Insertion 17803354
esv2660339 CNV Deletion 23128226
dgv740n71 CNV Loss 21882294
nsv825406 CNV Loss 20364138
esv1484659 CNV Insertion 17803354
esv268954 CNV Insertion 20981092
nsv528497 CNV Loss 19592680
nsv527065 CNV Loss 19592680
nsv525521 CNV Loss 19592680
nsv895569 CNV Loss 21882294
esv1037467 CNV Insertion 17803354
nsv8679 CNV Loss 18304495
nsv471796 CNV Loss 16327809
esv2662232 CNV Deletion 23128226
esv25700 CNV Loss 19812545

Relevant External Links for ANK3 Gene

HapMap Linkage Disequilibrium report
ANK3
Human Gene Mutation Database (HGMD)
ANK3

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ANK3 Gene

Disorders for ANK3 Gene

(1) OMIM Diseases for ANK3 Gene (600465)

UniProtKB/Swiss-Prot

ANK3_HUMAN
  • Note=Genetic variations in ANK3 may be associated with autism spectrum disorders susceptibility.
  • Mental retardation, autosomal recessive 37 (MRT37) [MIM:615493]: A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. MRT37 patients manifest delayed global development with speech delay, hypotonia, spasticity, and a sleep disorder. Severe behavioral abnormalities include aggression, hyperactivity, and grinding of the teeth. Note=The disease is caused by mutations affecting the gene represented in this entry. A homozygous deletion in ANK3 predicted to result in frameshift and premature truncation, has been shown to be the cause of moderate intellectual disability, an ADHD-like phenotype and behavioral problems in a consanguineous family (PubMed:23390136). {ECO:0000269 PubMed:23390136}.

(2) University of Copenhagen DISEASES for ANK3 Gene

(2) Novoseek inferred disease relationships for ANK3 Gene

Disease -log(P) Hits PubMed IDs
brugada syndrome 59.8 2
neuroma 58.2 13

Relevant External Links for ANK3

Genetic Association Database (GAD)
ANK3
Human Genome Epidemiology (HuGE) Navigator
ANK3
genes like me logo Genes that share disorders with ANK3: view

Publications for ANK3 Gene

  1. Collaborative genome-wide association analysis supports a role for ANK3 and CACNA1C in bipolar disorder. (PMID: 18711365) Ferreira M.A. … Craddock N. (Nat. Genet. 2008) 3 23 48
  2. Two variants in Ankyrin 3 (ANK3) are independent genetic risk factors for bipolar disorder. (PMID: 19088739) Schulze T.G. … McMahon F.J. (Mol. Psychiatry 2009) 3 23 48
  3. Ankyrin G and voltage gated sodium channels colocalize in human neuroma--key proteins of membrane remodeling after axonal injury. (PMID: 11950515) Kretschmer T. … Kline D.G. (Neurosci. Lett. 2002) 3 23
  4. Painful neuromas: a potential role for a structural transmembrane protein, ankyrin G. (PMID: 12507143) Kretschmer T. … Kline D.G. (J. Neurosurg. 2002) 3 23
  5. Ankyrin-G regulates inactivation gating of the neuronal sodium channel, Nav1.6. (PMID: 16775201) Shirahata E. … Hayasaka K. (J. Neurophysiol. 2006) 3 23

Products for ANK3 Gene

Sources for ANK3 Gene

Back to Top

Content