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-termina... See more...

Aliases for ANK2 Gene

Aliases for ANK2 Gene

  • Ankyrin 2 2 3 5
  • Non-Erythroid Ankyrin 3 4
  • Ankyrin 2, Neuronal 2 3
  • Ankyrin-2 3 4
  • CFAP87 2 3
  • ANK-2 3 4
  • FAP87 2 3
  • 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
  • ANK2 5
  • ANKB 4

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
  • GC04P112818

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) 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 Transport to the Golgi and subsequent modification and L1CAM interactions. Gene Ontology (GO) annotations related to this gene include protein kinase binding and structural constituent of cytoskeleton. An important paralog of this gene is ANK3.

UniProtKB/Swiss-Prot Summary for ANK2 Gene

  • Plays an essential role in the localization and membrane stabilization of ion transporters and ion channels in several cell types, including cardiomyocytes, as well as in striated muscle cells. 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. In cardiomyocytes, required for coordinate assembly of Na/Ca exchanger, SLC8A1/NCX1, Na/K ATPases ATP1A1 and ATP1A2 and inositol 1,4,5-trisphosphate (InsP3) receptors at sarcoplasmic reticulum/sarcolemma sites. Required for expression and targeting of SPTBN1 in neonatal cardiomyocytes and for the regulation of neonatal cardiomyocyte contraction rate (PubMed:12571597). In the inner segment of rod photoreceptors, required for the coordinated expression of the Na/K ATPase, Na/Ca exchanger and beta-2-spectrin (SPTBN1) (By similarity). Plays a role in endocytosis and intracellular protein transport. Associates with phosphatidylinositol 3-phosphate (PI3P)-positive organelles and binds dynactin to promote long-range motility of cells. Recruits RABGAP1L to (PI3P)-positive early endosomes, where RABGAP1L inactivates RAB22A, and promotes polarized trafficking to the leading edge of the migrating cells. Part of the ANK2/RABGAP1L complex which is required for the polarized recycling of fibronectin receptor ITGA5 ITGB1 to the plasma membrane that enables continuous directional cell migration (By similarity).

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for ANK2 Gene

Genomics for ANK2 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for ANK2 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH04J112817 Promoter/Enhancer 1.9 EPDnew Ensembl ENCODE CraniofacialAtlas 600.1 +112.7 112651 2.7 PRDM10 ZNF629 ZNF692 POLR2A BACH1 LARP7 PRDM1 ZIC2 PKNOX1 PATZ1 ANK2 LOC100422627 RF00017-4394 CAMK2D
GH04J112704 Promoter/Enhancer 1.7 EPDnew Ensembl ENCODE dbSUPER 600.7 +0.4 383 4.4 PRDM10 ZNF629 ZNF512 KDM1A ZNF692 PRDM1 ZSCAN4 POLR2A PATZ1 ZNF501 ANK2 ENSG00000250046 MIR302CHG MIR302A MIR302C MIR302D MIR367 LARP7 RPL7AP30 ZGRF1
GH04J113048 Promoter/Enhancer 1.2 EPDnew Ensembl ENCODE 600 +344.1 344076 2.2 ZSCAN4 POLR2A ZNF501 ZNF600 ZNF335 SIN3A ZNF366 ZNF660 KLF10 HLF ANK2 ENSG00000249373 ANK2-AS1 CAMK2D
GH04J113145 Promoter/Enhancer 1.6 Ensembl ENCODE CraniofacialAtlas 4.9 +441.4 441405 4.8 GATAD2A TEAD4 REST TFE3 RCOR2 RBFOX2 RXRB IRF2 SP1 GABPA ANK2 MIR8082 MIR1243 CAMK2D
GH04J113433 Enhancer 1.3 FANTOM5 Ensembl ENCODE dbSUPER 5.3 +729.2 729199 5.2 GATAD2A ZSCAN4 POLR2A SP1 CEBPA ZBTB20 JUND CEBPB JUN ATF3 RNU1-138P ANK2 ARSJ LOC105377374 RF00003-064 CAMK2D
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around ANK2 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for ANK2

Top Transcription factor binding sites by QIAGEN in the ANK2 gene promoter:
  • E2F
  • E2F-1
  • E2F-2
  • E2F-3a
  • E2F-4
  • E2F-5
  • En-1
  • p53
  • Pax-4a

Genomic Locations for ANK2 Gene

Genomic Locations for ANK2 Gene
chr4:112,706,018-113,384,221
(GRCh38/hg38)
Size:
678,204 bases
Orientation:
Plus strand
chr4:113,739,239-114,304,896
(GRCh37/hg19)
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). Interacts (via death domain) with RABGAP1L (via Rab-GAP TBC domain) (PubMed:27718357).
    SequenceCaution:
    • Sequence=AAI25237.1; Type=Frameshift; 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

Post-translational modifications for ANK2 Gene

  • Phosphorylated at multiple sites by different protein kinases and each phosphorylation event regulates the protein's structure and function.
  • Ubiquitination at Lys3618
  • Modification sites at PhosphoSitePlus

Other Protein References for ANK2 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for ANK2 Gene

Domains & Families for ANK2 Gene

Gene Families for ANK2 Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Plasma proteins
  • Potential drug targets
  • Predicted intracellular proteins
  • Transporters

Protein Domains for ANK2 Gene

InterPro:
Blocks:
  • Ankyrin repeat signature
  • Death domain
  • ZU5 domain
ProtoNet:

Suggested Antigen Peptide Sequences for ANK2 Gene

GenScript: Design optimal peptide antigens:
  • Ankyrin 2 (A5XEJ9_HUMAN)
  • Ankyrin 2 (A5XEK0_HUMAN)
  • Non-erythroid ankyrin (ANK2_HUMAN)
  • cDNA FLJ61595, highly similar to Ankyrin-2 (B7Z651_HUMAN)

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 ankyrin's function other than binding to spectrin.
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 ankyrin's function other than binding to spectrin.
genes like me logo Genes that share domains with ANK2: view

Function for ANK2 Gene

Molecular function for ANK2 Gene

UniProtKB/Swiss-Prot Function:
Plays an essential role in the localization and membrane stabilization of ion transporters and ion channels in several cell types, including cardiomyocytes, as well as in striated muscle cells. 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. In cardiomyocytes, required for coordinate assembly of Na/Ca exchanger, SLC8A1/NCX1, Na/K ATPases ATP1A1 and ATP1A2 and inositol 1,4,5-trisphosphate (InsP3) receptors at sarcoplasmic reticulum/sarcolemma sites. Required for expression and targeting of SPTBN1 in neonatal cardiomyocytes and for the regulation of neonatal cardiomyocyte contraction rate (PubMed:12571597). In the inner segment of rod photoreceptors, required for the coordinated expression of the Na/K ATPase, Na/Ca exchanger and beta-2-spectrin (SPTBN1) (By similarity). Plays a role in endocytosis and intracellular protein transport. Associates with phosphatidylinositol 3-phosphate (PI3P)-positive organelles and binds dynactin to promote long-range motility of cells. Recruits RABGAP1L to (PI3P)-positive early endosomes, where RABGAP1L inactivates RAB22A, and promotes polarized trafficking to the leading edge of the migrating cells. Part of the ANK2/RABGAP1L complex which is required for the polarized recycling of fibronectin receptor ITGA5 ITGB1 to the plasma membrane that enables continuous directional cell migration (By similarity).
GENATLAS Biochemistry:
ankyrin 2,non erythrocytic,intermediate filament associated protein (IFAP,type III)

Phenotypes From GWAS Catalog for ANK2 Gene

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:0008093 cytoskeletal adaptor activity IBA 21873635
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

Human Phenotype Ontology for ANK2 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ANK2

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. Early endosome. Recycling endosome. Lysosome. Mitochondrion. Cytoplasm, myofibril, sarcomere, Z line. Cell membrane, sarcolemma, T-tubule. 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 distinct intracellular compartment of neonatal cardiomyocytes (PubMed:19007774). In skeletal muscle, localizes to neuromuscular junctions (By similarity). Localizes with puncta at mitochondria ends. Colocalizes and cotransports on motile vesicles with RABGAP1L (By similarity). {ECO:0000250 UniProtKB:Q8C8R3, ECO:0000269 PubMed:19007774}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for ANK2 gene
Compartment Confidence
plasma membrane 5
cytosol 5
cytoskeleton 4
mitochondrion 4
endosome 4
lysosome 4
nucleus 3
extracellular 2
endoplasmic reticulum 2
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Plasma membrane (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for ANK2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005623 cell IEA --
GO:0005737 cytoplasm IEA --
GO:0005739 mitochondrion IEA --
GO:0005764 lysosome IEA --
GO:0005768 endosome IEA --
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:0002027 regulation of heart rate IMP 18832177
GO:0003283 atrial septum development IMP 18832177
GO:0006874 cellular calcium ion homeostasis ISS --
GO:0006888 ER to Golgi vesicle-mediated transport TAS --
GO:0006897 endocytosis IEA --
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

mRNA/cDNA for ANK2 Gene

49 REFSEQ mRNAs :
25 NCBI additional mRNA sequence :
94 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ANK2

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

Expression for ANK2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE 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, MaxQB, and MOPED for ANK2 Gene



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for ANK2

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.

Evidence on tissue expression from TISSUES for ANK2 Gene

  • Nervous system(5)
  • Eye(4.7)
  • Liver(4.5)
  • Muscle(3.4)
  • Heart(3.3)
  • Kidney(3)
  • Blood(2.9)
  • Adrenal gland(2.3)
  • Skin(2.2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for ANK2 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • nervous
  • respiratory
Regions:
Head and neck:
  • brain
  • ear
  • head
Thorax:
  • heart
  • heart valve
  • lung
General:
  • blood
  • blood vessel
  • red blood cell
genes like me logo Genes that share expression patterns with ANK2: view

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
Chimpanzee
(Pan troglodytes)
Mammalia ANK2 30 31
  • 99.38 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia ANK2 30 31
  • 89.45 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia ANK2 31
  • 89 (a)
OneToOne
Mouse
(Mus musculus)
Mammalia Ank2 31
  • 87 (a)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Ank2 30
  • 83.43 (n)
Platypus
(Ornithorhynchus anatinus)
Mammalia ANK2 31
  • 75 (a)
OneToOne
Cow
(Bos Taurus)
Mammalia ANK2 31
  • 66 (a)
OneToOne
Chicken
(Gallus gallus)
Aves ANK2 30
  • 73.22 (n)
CHANK2 31
  • 72 (a)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia ANK2 31
  • 66 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia ank2 30
  • 62.11 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.8517 30
Zebrafish
(Danio rerio)
Actinopterygii LOC101883980 30
  • 64.15 (n)
ank2b 31
  • 56 (a)
OneToMany
CR388002.1 31
  • 48 (a)
OneToMany
Fruit Fly
(Drosophila melanogaster)
Insecta Ank 31 32
  • 52 (a)
ManyToMany
mask 32
  • 34 (a)
nompC 32
  • 30 (a)
Ank2 31 32
  • 11 (a)
ManyToMany
Worm
(Caenorhabditis elegans)
Secernentea Y71A12B.4 32
  • 30 (a)
C29E6.2 32
  • 23 (a)
unc-44 31 32
  • 19 (a)
OneToMany
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes PHO81 33
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 58 (a)
OneToMany
Sea Vase
(Ciona intestinalis)
Ascidiacea Cin.5740 30
Species where no ortholog for ANK2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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)
Aminode:
Evolutionary constrained regions (ECRs) for ANK2: view image

Paralogs for ANK2 Gene

Paralogs for ANK2 Gene

(45) SIMAP similar genes for ANK2 Gene using alignment to 17 proteins:

  • ANK2_HUMAN
  • A5XEJ9_HUMAN
  • A5XEK0_HUMAN
  • B7Z651_HUMAN
  • D6R9U4_HUMAN
  • D6RHC5_HUMAN
  • D6RHE1_HUMAN
  • D6RIY9_HUMAN
  • E9PCH6_HUMAN
  • E9PHW9_HUMAN
  • H0Y8X8_HUMAN
  • H0Y8Y2_HUMAN
  • H0Y931_HUMAN
  • H0Y933_HUMAN
  • H0YAG3_HUMAN
  • I6L894_HUMAN
  • L8E9V3_HUMAN
genes like me logo Genes that share paralogs with ANK2: view

Variants for ANK2 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for ANK2 Gene

SNP ID Clinical significance and condition Chr 04 pos Variation AA Info Type
406478 Uncertain Significance: Long QT syndrome 113,373,152(+) TG/CA MISSENSE_VARIANT
526998 Uncertain Significance: Long QT syndrome 113,356,324(+) CA/TG MISSENSE_VARIANT,INTRON_VARIANT
639234 Uncertain Significance: Long QT syndrome 113,355,952(+) A/G MISSENSE_VARIANT,INTRON_VARIANT
639286 Uncertain Significance: Long QT syndrome 113,353,710(+) T/A MISSENSE_VARIANT,INTRON_VARIANT
639490 Uncertain Significance: Long QT syndrome 113,353,305(+) A/C MISSENSE_VARIANT,INTRON_VARIANT

Additional dbSNP identifiers (rs#s) for ANK2 Gene

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

Variant ID Type Subtype PubMed ID
dgv167n6 CNV deletion 16902084
esv1008929 CNV insertion 20482838
esv1161672 CNV insertion 17803354
esv1571569 CNV deletion 17803354
esv2058983 CNV deletion 18987734
esv2161780 CNV deletion 18987734
esv2428650 CNV deletion 19546169
esv2642980 CNV insertion 19546169
esv2659476 CNV deletion 23128226
esv2665481 CNV deletion 23128226
esv26700 CNV loss 19812545
esv2676769 CNV deletion 23128226
esv2728155 CNV deletion 23290073
esv2728156 CNV deletion 23290073
esv2728157 CNV deletion 23290073
esv2728158 CNV deletion 23290073
esv2728159 CNV deletion 23290073
esv2728160 CNV deletion 23290073
esv2728161 CNV deletion 23290073
esv275309 CNV gain+loss 21479260
esv3299051 CNV deletion 24192839
esv3443452 CNV insertion 20981092
esv3564456 CNV deletion 23714750
esv3564457 CNV deletion 23714750
esv3564458 CNV deletion 23714750
esv3569665 CNV loss 25503493
esv3601801 CNV loss 21293372
esv3601805 CNV loss 21293372
esv3601806 CNV loss 21293372
esv3601807 CNV gain 21293372
esv3601808 CNV loss 21293372
esv3601809 CNV loss 21293372
esv3601810 CNV loss 21293372
esv989156 CNV deletion 20482838
nsv1006992 CNV gain 25217958
nsv1072014 CNV deletion 25765185
nsv1073367 CNV deletion 25765185
nsv1114563 CNV deletion 24896259
nsv1121629 CNV deletion 24896259
nsv1131818 CNV deletion 24896259
nsv1141990 OTHER inversion 24896259
nsv1148309 CNV deletion 26484159
nsv1161126 CNV duplication 26073780
nsv290373 CNV insertion 16902084
nsv292421 CNV insertion 16902084
nsv4473 CNV insertion 18451855
nsv473536 CNV novel sequence insertion 20440878
nsv508306 CNV deletion 20534489
nsv516249 CNV loss 19592680
nsv518231 CNV gain 19592680
nsv521029 CNV loss 19592680
nsv822685 CNV gain 20364138
nsv822687 CNV gain 20364138
nsv830038 CNV gain 17160897
nsv930485 CNV deletion 23359205
nsv956366 CNV deletion 24416366
nsv966311 CNV duplication 23825009
nsv980247 CNV duplication 23825009

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)

Additional Variant Information for ANK2 Gene

Human Gene Mutation Database (HGMD)
ANK2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
ANK2

SNP Genotyping and Copy Number Assay Products

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

Disorders for ANK2 Gene

MalaCards: The human disease database

(42) MalaCards diseases for ANK2 Gene - From: UniProtKB/Swiss-Prot, OMIM, GTR, Orphanet, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
cardiac arrhythmia, ankyrin-b-related
  • ankyrin-b syndrome
long qt syndrome 1
  • lqt1
long qt syndrome
  • romano-ward syndrome
catecholaminergic polymorphic ventricular tachycardia
  • ventricular tachycardia, catecholaminergic polymorphic, 1
cardiac arrhythmia
  • extrasystoles
- 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, ECO:0000269 PubMed:17940615}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for ANK2

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

No data available for Genatlas for ANK2 Gene

Publications for ANK2 Gene

  1. Common genetic variants in ANK2 modulate QT interval: results from the KORA study. (PMID: 20031550) Sedlacek K … Jeron A (Circulation. Cardiovascular genetics 2008) 3 23 41
  2. Ankyrin-B syndrome: enhanced cardiac function balanced by risk of cardiac death and premature senescence. (PMID: 17940615) Mohler PJ … Bennett V (PloS one 2007) 3 4 23
  3. A cardiac arrhythmia syndrome caused by loss of ankyrin-B function. (PMID: 15178757) Mohler PJ … Bennett V (Proceedings of the National Academy of Sciences of the United States of America 2004) 3 4 23
  4. Ankyrin-B targets beta2-spectrin to an intracellular compartment in neonatal cardiomyocytes. (PMID: 15262991) Mohler PJ … Bennett V (The Journal of biological chemistry 2004) 3 4 23
  5. Ankyrin-B mutation causes type 4 long-QT cardiac arrhythmia and sudden cardiac death. (PMID: 12571597) Mohler PJ … Bennett V (Nature 2003) 2 3 4

Products for ANK2 Gene

  • Signalway ELISA kits for ANK2
  • Signalway Proteins for ANK2

Sources for ANK2 Gene