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Aliases for ANK2 Gene

Aliases for ANK2 Gene

  • Ankyrin 2, Neuronal 2 3 5
  • Non-Erythroid Ankyrin 3 4
  • ANK-2 3 4
  • Long (Electrocardiographic) QT Syndrome 4 2
  • Ankyrin-2, Nonerythrocytic 3
  • Ankyrin, Brain 3
  • Brain Ankyrin 4
  • Ankyrin B 3
  • Ankyrin-B 4
  • Brank-2 3
  • LQT4 3

External Ids for ANK2 Gene

Previous HGNC Symbols for ANK2 Gene

  • LQT4

Previous GeneCards Identifiers for ANK2 Gene

  • GC04P114383
  • GC04P114251
  • GC04P114132
  • GC04P114429
  • GC04P114328
  • GC04P113970
  • GC04P113739
  • GC04P109467

Summaries for ANK2 Gene

Entrez Gene Summary for ANK2 Gene

  • This gene encodes a member of the ankyrin family of proteins that link the integral membrane proteins to the underlying spectrin-actin cytoskeleton. Ankyrins play key roles in activities such as cell motility, activation, proliferation, contact and the maintenance of specialized membrane domains. 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. The protein encoded by this gene is required for targeting and stability of Na/Ca exchanger 1 in cardiomyocytes. Mutations in this gene cause long QT syndrome 4 and cardiac arrhythmia syndrome. Multiple transcript variants encoding different isoforms have been described. [provided by RefSeq, Dec 2011]

GeneCards Summary for ANK2 Gene

ANK2 (Ankyrin 2, Neuronal) is a Protein Coding gene. Diseases associated with ANK2 include Cardiac Arrhythmia, Ankyrin-B-Related and Familial Long Qt Syndrome. Among its related pathways are Developmental Biology and Transport to the Golgi and subsequent modification. GO annotations related to this gene include protein kinase binding and structural constituent of cytoskeleton. An important paralog of this gene is TANC1.

UniProtKB/Swiss-Prot for ANK2 Gene

  • In skeletal muscle, required for proper localization of DMD and DCTN4 and for the formation and/or stability of a special subset of microtubules associated with costameres and neuromuscular junctions (By similarity). Attaches integral membrane proteins to cytoskeletal elements. Also binds to cytoskeletal proteins. Required for coordinate assembly of Na/Ca exchanger, Na/K ATPase and InsP3 receptor at sarcoplasmic reticulum sites in cardiomyocytes. Required for the coordinated expression of the Na/K ATPase, Na/Ca exchanger and beta-2-spectrin (SPTBN1) in the inner segment of rod photoreceptors. Required for expression and targeting of SPTBN1 in neonatal cardiomyocytes and for the regulation of neonatal cardiomyocyte contraction rate.

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ANK2 Gene

Genomics for ANK2 Gene

Regulatory Elements for ANK2 Gene

Enhancers for ANK2 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around ANK2 on UCSC Golden Path with GeneCards custom track

Promoters for ANK2 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around ANK2 on UCSC Golden Path with GeneCards custom track

Genomic Location for ANK2 Gene

Chromosome:
4
Start:
112,818,083 bp from pter
End:
113,383,740 bp from pter
Size:
565,658 bases
Orientation:
Plus strand

Genomic View for ANK2 Gene

Genes around ANK2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ANK2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ANK2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ANK2 Gene

Proteins for ANK2 Gene

  • Protein details for ANK2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q01484-ANK2_HUMAN
    Recommended name:
    Ankyrin-2
    Protein Accession:
    Q01484
    Secondary Accessions:
    • Q01485
    • Q08AC7
    • Q08AC8
    • Q7Z3L5

    Protein attributes for ANK2 Gene

    Size:
    3957 amino acids
    Molecular mass:
    433715 Da
    Quaternary structure:
    • Interacts with RHBG and SPTBN1 (PubMed:15262991, PubMed:15611082). Colocalizes with Na/K ATPase, Na/Ca exchanger and SPTBN1 (PubMed:19007774). Directly interacts with DMD; this interaction is necessary for DMD localization at the sarcolemma. Interacts with DCTN4; this interaction is required for DCTN4 retention at costameres. Identified in complexes that contain VIM, EZR, AHNAK, BFSP1, BFSP2, ANK2, PLEC, PRX and spectrin (By similarity).
    SequenceCaution:
    • Sequence=AAI25237.1; Type=Frameshift; Positions=1405; Evidence={ECO:0000305}; Sequence=CAB42644.1; Type=Miscellaneous discrepancy; Note=CDS lacks C-terminal region which is nevertheless present in the underlying cDNA.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for ANK2 Gene

    Alternative splice isoforms for ANK2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ANK2 Gene

Proteomics data for ANK2 Gene at MOPED

Post-translational modifications for ANK2 Gene

  • Phosphorylated at multiple sites by different protein kinases and each phosphorylation event regulates the proteins structure and function.
  • Ubiquitination at Lys 1533
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for ANK2 Gene

Domains & Families for ANK2 Gene

Gene Families for ANK2 Gene

Suggested Antigen Peptide Sequences for ANK2 Gene

Graphical View of Domain Structure for InterPro Entry

Q01484

UniProtKB/Swiss-Prot:

ANK2_HUMAN :
  • 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.
  • Contains 24 ANK repeats.
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.
  • Contains 2 death domains.
  • Contains 2 ZU5 domains.
Similarity:
  • Contains 24 ANK repeats.
genes like me logo Genes that share domains with ANK2: view

Function for ANK2 Gene

Molecular function for ANK2 Gene

GENATLAS Biochemistry:
ankyrin 2,non erythrocytic,intermediate filament associated protein (IFAP,type III)
UniProtKB/Swiss-Prot Function:
In skeletal muscle, required for proper localization of DMD and DCTN4 and for the formation and/or stability of a special subset of microtubules associated with costameres and neuromuscular junctions (By similarity). Attaches integral membrane proteins to cytoskeletal elements. Also binds to cytoskeletal proteins. Required for coordinate assembly of Na/Ca exchanger, Na/K ATPase and InsP3 receptor at sarcoplasmic reticulum sites in cardiomyocytes. Required for the coordinated expression of the Na/K ATPase, Na/Ca exchanger and beta-2-spectrin (SPTBN1) in the inner segment of rod photoreceptors. Required for expression and targeting of SPTBN1 in neonatal cardiomyocytes and for the regulation of neonatal cardiomyocyte contraction rate.

Gene Ontology (GO) - Molecular Function for ANK2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005200 structural constituent of cytoskeleton IEA --
GO:0030674 protein binding, bridging ISS --
GO:0051117 ATPase binding ISS --
genes like me logo Genes that share ontologies with ANK2: view
genes like me logo Genes that share phenotypes with ANK2: view

Human Phenotype Ontology for ANK2 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

miRNA for ANK2 Gene

miRTarBase miRNAs that target ANK2

Inhibitory RNA Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets and HOMER Transcription for ANK2 Gene

Localization for ANK2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ANK2 Gene

Cytoplasm, cytoskeleton. Membrane. Cytoplasm, myofibril, sarcomere, M line. Apical cell membrane. Cell membrane. Cell junction, synapse, postsynaptic cell membrane. Note=Expressed at the apical membrane of airway lung epithelial cells (By similarity). Localized to the plasma membrane of the inner segments of photoreceptors in retina. Colocalizes with SPTBN1 in a distict intracellular compartment of neonatal cardiomyocytes (By similarity). In skeletal muscle, localizes to neuromuscular junctions (By similarity). {ECO:0000250}.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for ANK2 Gene COMPARTMENTS Subcellular localization image for ANK2 gene
Compartment Confidence
cytosol 5
plasma membrane 5
cytoskeleton 4
nucleus 3
endoplasmic reticulum 2
mitochondrion 1

Gene Ontology (GO) - Cellular Components for ANK2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0014704 intercalated disc ISS --
GO:0030315 T-tubule ISS --
GO:0043034 costamere ISS --
genes like me logo Genes that share ontologies with ANK2: view

Pathways & Interactions for ANK2 Gene

genes like me logo Genes that share pathways with ANK2: view

Pathways by source for ANK2 Gene

Gene Ontology (GO) - Biological Process for ANK2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003283 atrial septum development IMP 18832177
GO:0007165 signal transduction IEA --
GO:0007399 nervous system development IEA --
GO:0007411 axon guidance TAS --
GO:0010881 regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion ISS 21859974
genes like me logo Genes that share ontologies with ANK2: view

No data available for SIGNOR curated interactions for ANK2 Gene

Drugs & Compounds for ANK2 Gene

(2) Drugs for ANK2 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(1) Additional Compounds for ANK2 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with ANK2: view

Transcripts for ANK2 Gene

Unigene Clusters for ANK2 Gene

Ankyrin 2, neuronal:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for ANK2 Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5 ^ 6a · 6b ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19 ^ 20 ^ 21 ^ 22 ^ 23 ^ 24 ^
SP1:
SP2:
SP3: - -
SP4:
SP5:
SP6:
SP7:
SP8:

ExUns: 25 ^ 26 ^ 27a · 27b ^ 28 ^ 29a · 29b ^ 30 ^ 31 ^ 32 ^ 33 ^ 34 ^ 35 ^ 36 ^ 37 ^ 38 ^ 39 ^ 40a · 40b ^ 41 ^ 42a · 42b · 42c
SP1: -
SP2: - -
SP3:
SP4: -
SP5:
SP6:
SP7:
SP8:

Relevant External Links for ANK2 Gene

GeneLoc Exon Structure for
ANK2
ECgene alternative splicing isoforms for
ANK2

Expression for ANK2 Gene

mRNA expression in normal human tissues for ANK2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for ANK2 Gene

This gene is overexpressed in Brain - Frontal Cortex (BA9) (x4.1).

Protein differential expression in normal tissues from HIPED for ANK2 Gene

This gene is overexpressed in Brain (22.7), Frontal cortex (20.2), and Fetal Brain (11.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for ANK2 Gene



SOURCE GeneReport for Unigene cluster for ANK2 Gene Hs.620557

mRNA Expression by UniProt/SwissProt for ANK2 Gene

Q01484-ANK2_HUMAN
Tissue specificity: Present in plasma membrane of neurons as well as glial cells throughout the brain. Expressed in fetal brain and in temporal cortex of adult brain. Also expressed in the inner segments of rod photoreceptors in retina.
genes like me logo Genes that share expression patterns with ANK2: view

Primer Products

No data available for Protein tissue co-expression partners for ANK2 Gene

Orthologs for ANK2 Gene

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

Orthologs for ANK2 Gene

Organism Taxonomy Gene Similarity Type Details
dog
(Canis familiaris)
Mammalia ANK2 35
  • 89.45 (n)
  • 88.93 (a)
ANK2 36
  • 89 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia ANK2 35
  • 99.38 (n)
  • 99.13 (a)
ANK2 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Ank2 35
  • 83.43 (n)
  • 83.99 (a)
cow
(Bos Taurus)
Mammalia ANK2 36
  • 66 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia ANK2 36
  • 89 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Ank2 36
  • 87 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ANK2 36
  • 75 (a)
OneToOne
chicken
(Gallus gallus)
Aves ANK2 35
  • 73.22 (n)
  • 74.15 (a)
CHANK2 36
  • 72 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ANK2 36
  • 66 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ank2 35
  • 62.11 (n)
  • 57.82 (a)
African clawed frog
(Xenopus laevis)
Amphibia Xl.8517 35
zebrafish
(Danio rerio)
Actinopterygii LOC101883980 35
  • 64.15 (n)
  • 64.55 (a)
ank2b 36
  • 56 (a)
OneToMany
CR388002.1 36
  • 48 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta Ank 37
  • 50 (a)
Ank2 37
  • 60 (a)
mask 37
  • 34 (a)
nompC 37
  • 30 (a)
Ank 36
  • 52 (a)
ManyToMany
Ank2 36
  • 11 (a)
ManyToMany
worm
(Caenorhabditis elegans)
Secernentea C29E6.2 37
  • 23 (a)
unc-44 37
  • 55 (a)
Y71A12B.4 37
  • 30 (a)
unc-44 36
  • 19 (a)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes PHO81 38
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.5740 35
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 58 (a)
OneToMany
Species with no ortholog for ANK2:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • 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 ANK2 Gene

ENSEMBL:
Gene Tree for ANK2 (if available)
TreeFam:
Gene Tree for ANK2 (if available)

Paralogs for ANK2 Gene

genes like me logo Genes that share paralogs with ANK2: view

Variants for ANK2 Gene

Sequence variations from dbSNP and Humsavar for ANK2 Gene

SNP ID Clin Chr 04 pos Sequence Context AA Info Type
rs72544141 Long QT syndrome 4 (LQT4) 113,348,277(+) AAAGG(A/G)ATCAG intron-variant, reference, missense
rs35530544 Long QT syndrome 4 (LQT4) 113,367,751(+) CAGCA(A/C)TCTTT reference, missense
VAR_022936 Long QT syndrome 4 (LQT4)
rs121912706 Long QT syndrome 4 (LQT4) 113,373,306(+) TTAGG(C/T)GGTAT reference, missense
rs45454496 Long QT syndrome 4 (LQT4) 113,373,381(+) ACATC(A/G)AGGAA reference, missense

Structural Variations from Database of Genomic Variants (DGV) for ANK2 Gene

Variant ID Type Subtype PubMed ID
nsv879723 CNV Loss 21882294
nsv4473 CNV Insertion 18451855
esv275309 CNV Gain+Loss 21479260
nsv516249 CNV Loss 19592680
nsv518231 CNV Gain 19592680
nsv521029 CNV Loss 19592680
esv2728155 CNV Deletion 23290073
esv2428650 CNV Deletion 19546169
esv2728156 CNV Deletion 23290073
esv2058983 CNV Deletion 18987734
esv989156 CNV Deletion 20482838
esv2728157 CNV Deletion 23290073
esv2728158 CNV Deletion 23290073
nsv879724 CNV Loss 21882294
esv2642980 CNV Insertion 19546169
esv272533 CNV Insertion 20981092
esv268511 CNV Insertion 20981092
nsv879725 CNV Loss 21882294
nsv290373 CNV Insertion 16902084
esv1008929 CNV Insertion 20482838
esv1161672 CNV Insertion 17803354
nsv292421 CNV Insertion 16902084
nsv879726 CNV Loss 21882294
nsv508306 CNV Loss 20534489
esv2728159 CNV Deletion 23290073
esv2665481 CNV Deletion 23128226
esv26700 CNV Loss 19812545
esv2728160 CNV Deletion 23290073
esv2659476 CNV Deletion 23128226
nsv822685 CNV Gain 20364138
nsv822687 CNV Gain 20364138
esv2676769 CNV Deletion 23128226
nsv830038 CNV Gain 17160897
esv2161780 CNV Deletion 18987734
dgv167n6 CNV Loss 16902084
esv2728161 CNV Deletion 23290073
esv1571569 CNV Deletion 17803354

Variation tolerance for ANK2 Gene

Residual Variation Intolerance Score: 0.705% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 12.79; 94.74% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for ANK2 Gene

Human Gene Mutation Database (HGMD)
ANK2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ANK2 Gene

Disorders for ANK2 Gene

MalaCards: The human disease database

(10) MalaCards diseases for ANK2 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
cardiac arrhythmia, ankyrin-b-related
  • long qt syndrome 4
familial long qt syndrome
  • congenital long qt syndrome
long qt syndrome
  • long q-t syndrome
sudden cardiac death
  • death sudden cardiac
ventricular tachycardia, catecholaminergic polymorphic, 1
  • bidirectional tachycardia
- elite association - COSMIC cancer census association via MalaCards
Search ANK2 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

ANK2_HUMAN
  • Long QT syndrome 4 (LQT4) [MIM:600919]: A heart disorder characterized by a prolonged QT interval on the ECG and polymorphic ventricular arrhythmias. They cause syncope and sudden death in response to exercise or emotional stress, and can present with a sentinel event of sudden cardiac death in infancy. Long QT syndrome type 4 shows many atypical features compared to classical long QT syndromes, including pronounced sinus bradycardia, polyphasic T waves and atrial fibrillation. Cardiac repolarization defects may be not as severe as in classical LQT syndromes and prolonged QT interval on EKG is not a consistent feature. {ECO:0000269 PubMed:12571597, ECO:0000269 PubMed:15178757}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for ANK2

Genetic Association Database (GAD)
ANK2
Human Genome Epidemiology (HuGE) Navigator
ANK2
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
ANK2
genes like me logo Genes that share disorders with ANK2: view

No data available for Genatlas for ANK2 Gene

Publications for ANK2 Gene

  1. Ankyrin-B mutation causes type 4 long-QT cardiac arrhythmia and sudden cardiac death. (PMID: 12571597) Mohler P.J. … Bennett V. (Nature 2003) 2 3 4 67
  2. Mutation analysis of candidate genes SCN1B, KCND3 and ANK2 in patients with clinical diagnosis of long QT syndrome. (PMID: 18052691) RaudenskA! M. … Spinar J. (Physiol Res 2008) 3 23
  3. Revisiting ankyrin-InsP3 receptor interactions: ankyrin-B associates with the cytoplasmic N-terminus of the InsP3 receptor. (PMID: 18275062) Kline C.F. … Mohler P.J. (J. Cell. Biochem. 2008) 3 23
  4. Ankyrin B modulates the function of Na,K-ATPase/inositol 1,4,5-trisphosphate receptor signaling microdomain. (PMID: 18303017) Liu X. … Aperia A. (J. Biol. Chem. 2008) 3 23
  5. Obscurin targets ankyrin-B and protein phosphatase 2A to the cardiac M-line. (PMID: 18782775) Cunha S.R. … Mohler P.J. (J. Biol. Chem. 2008) 3 23

Products for ANK2 Gene

Sources for ANK2 Gene

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