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Aliases for ANK2 Gene

Aliases for ANK2 Gene

  • Ankyrin 2, Neuronal 2 3
  • Non-Erythroid Ankyrin 3 4
  • ANK-2 3 4
  • LQT4 3 6
  • Long (Electrocardiographic) QT Syndrome 4 2
  • Ankyrin-2, Nonerythrocytic 3
  • Ankyrin, Brain 3
  • Brain Ankyrin 4
  • Ankyrin B 3
  • Ankyrin-2 3
  • Ankyrin-B 4
  • Brank-2 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 long qt syndrome 1. Among its related pathways are Proteoglycans in cancer and L1CAM interactions. GO annotations related to this gene include protein kinase binding and ion channel binding. An important paralog of this gene is ANKRD52.

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

Genomic Location for ANK2 Gene

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

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
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:
    • 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 (By similarity). Interacts with RHBG and SPTBN1.
    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 Lys1533
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for ANK2 Gene

Domains for ANK2 Gene

Gene Families for ANK2 Gene

HGNC:
  • ANKRD :Ankyrin repeat domain containing

Suggested Antigen Peptide Sequences for ANK2 Gene

Graphical View of Domain Structure for InterPro Entry

Q01484

UniProtKB/Swiss-Prot:

ANK2_HUMAN :
  • Q01484
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:0005515 protein binding IPI 15262991
GO:0015459 potassium channel regulator activity IEA --
GO:0019899 enzyme binding IPI 21177872
GO:0019901 protein kinase binding IPI 18782775
genes like me logo Genes that share ontologies with ANK2: view
genes like me logo Genes that share phenotypes with ANK2: view

Animal Models for ANK2 Gene

MGI Knock Outs for ANK2:

miRNA for ANK2 Gene

miRTarBase miRNAs that target ANK2

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targeting 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
cytoskeleton 5
plasma membrane 5
cytosol 4
endoplasmic reticulum 2
mitochondrion 1
nucleus 1
vacuole 1

Gene Ontology (GO) - Cellular Components for ANK2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005622 intracellular IGI 17178715
GO:0005737 cytoplasm --
GO:0005829 cytosol TAS --
GO:0005856 cytoskeleton IEA --
GO:0005886 plasma membrane ISS --
genes like me logo Genes that share ontologies with ANK2: view

Pathways for ANK2 Gene

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

Pathways by source for ANK2 Gene

1 KEGG pathway for ANK2 Gene

Gene Ontology (GO) - Biological Process for ANK2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002027 regulation of heart rate IMP 18832177
GO:0003283 atrial septum development IMP 18832177
GO:0006874 cellular calcium ion homeostasis ISS --
GO:0007165 signal transduction --
GO:0007399 nervous system development --
genes like me logo Genes that share ontologies with ANK2: view

Compounds for ANK2 Gene

(3) Novoseek inferred chemical compound relationships for ANK2 Gene

Compound -log(P) Hits PubMed IDs
inositol 1,4,5 trisphosphate 66.4 11
ryanodine 54.8 2
calcium 17.2 4
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) (4.1).

Integrated Proteomics: protein expression 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 expressions with ANK2: view

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
chimpanzee
(Pan troglodytes)
Mammalia ANK2 35
  • 99.38 (n)
  • 99.13 (a)
ANK2 36
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia ANK2 36
  • 66 (a)
OneToOne
dog
(Canis familiaris)
Mammalia ANK2 35
  • 89.45 (n)
  • 88.93 (a)
ANK2 36
  • 89 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Ank2 16
Ank2 36
  • 87 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia ANK2 36
  • 89 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ANK2 36
  • 75 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Ank2 35
  • 83.43 (n)
  • 83.99 (a)
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
African clawed frog
(Xenopus laevis)
Amphibia Xl.8517 35
tropical clawed frog
(Silurana tropicalis)
Amphibia ank2 35
  • 62.11 (n)
  • 57.82 (a)
zebrafish
(Danio rerio)
Actinopterygii ank2b 36
  • 56 (a)
OneToMany
CR388002.1 36
  • 48 (a)
OneToMany
LOC101883980 35
  • 64.15 (n)
  • 64.55 (a)
fruit fly
(Drosophila melanogaster)
Insecta Ank 36
  • 52 (a)
ManyToMany
Ank2 36
  • 11 (a)
ManyToMany
mask 37
  • 34 (a)
nompC 37
  • 30 (a)
Ank2 37
  • 60 (a)
Ank 37
  • 50 (a)
worm
(Caenorhabditis elegans)
Secernentea unc-44 36
  • 19 (a)
OneToMany
C29E6.2 37
  • 23 (a)
Y71A12B.4 37
  • 30 (a)
unc-44 37
  • 55 (a)
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

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 MAF
rs1279 -- 113,383,660(-) GTTGT(A/G)TTTTT utr-variant-3-prime
rs11153 -- 113,382,139(-) AATAT(A/C)TTAAT utr-variant-3-prime
rs28148 -- 113,272,751(-) AATGA(C/T)GACTC intron-variant
rs28149 -- 113,273,012(-) AAAAA(A/T)ATAGA intron-variant
rs28262 -- 113,276,525(+) TTAGC(C/T)TCAAA intron-variant

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

Relevant External Links for ANK2 Gene

HapMap Linkage Disequilibrium report
ANK2
Human Gene Mutation Database (HGMD)
ANK2
Locus Specific Mutation Databases (LSDB)
ANK2

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

Disorders for ANK2 Gene

(1) OMIM Diseases for ANK2 Gene (106410)

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.

(2) University of Copenhagen DISEASES for ANK2 Gene

(7) Novoseek inferred disease relationships for ANK2 Gene

Disease -log(P) Hits PubMed IDs
ventricular tachycardia, catecholaminergic polymorphic 69 1
long qt syndrome 66.9 5
death sudden cardiac 64.7 4
death sudden 55.1 1
arrhythmia 53.7 12

Relevant External Links for ANK2

Genetic Association Database (GAD)
ANK2
Human Genome Epidemiology (HuGE) Navigator
ANK2
genes like me logo Genes that share disorders with ANK2: view

Publications for ANK2 Gene

  1. Isolation and characterization of cDNAs encoding human brain ankyrins reveal a family of alternatively spliced genes. (PMID: 1830053) Otto E. … Bennett V. (J. Cell Biol. 1991) 3 4 23
  2. Isolation and chromosomal localization of a novel nonerythroid ankyrin gene. (PMID: 1833308) Tse W.T. … Forget B.G. (Genomics 1991) 3 4 23
  3. A cardiac arrhythmia syndrome caused by loss of ankyrin-B function. (PMID: 15178757) Mohler P.J. … Bennett V. (Proc. Natl. Acad. Sci. U.S.A. 2004) 3 4 23
  4. Ankyrin-B targets beta2-spectrin to an intracellular compartment in neonatal cardiomyocytes. (PMID: 15262991) Mohler P.J. … Bennett V. (J. Biol. Chem. 2004) 3 4 23
  5. Common genetic variants in ANK2 modulate QT interval: results from the KORA study. (PMID: 20031550) Sedlacek K. … Jeron A. (Circ Cardiovasc Genet 2008) 3 23 48

Products for ANK2 Gene

Sources for ANK2 Gene

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