Atlas of Genetics and Cytogenetics in Oncology and Haematology


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ANK2 (ankyrin 2, neuronal)

Identity

Alias_namesLQT4
long (electrocardiographic) QT syndrome 4
ankyrin 2, neuronal
HGNC (Hugo) ANK2
LocusID (NCBI) 287
Atlas_Id 642
Location 4q25  [Link to chromosome band 4q25]
Location_base_pair Starts at 113739239 and ends at 114304896 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
ANK2 (4q25) / ACO2 (22q13.2)ANK2 (4q25) / ALPK1 (4q25)ANK2 (4q25) / ANK2 (4q25)
ANK2 (4q25) / ARHGAP10 (4q31.23)ANK2 (4q25) / PCDHB14 (5q31.3)ANK2 (4q25) / ZNF664 (12q24.31)
AP3S2 (15q26.1) / ANK2 (4q25)CAMK2D (4q26) / ANK2 (4q25)LOC401232 () / ANK2 (4q25)
NACA (12q13.3) / ANK2 (4q25)PCF11 (11q14.1) / ANK2 (4q25)ANK2 4q25 / ALPK1 4q25
ANK2 4q25 / ARHGAP10 4q31.23CAMK2D 4q26 / ANK2 4q25

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 


External links

Nomenclature
HGNC (Hugo)ANK2   493
LRG (Locus Reference Genomic)LRG_327
Cards
Entrez_Gene (NCBI)ANK2  287  ankyrin 2, neuronal
AliasesANK-2; LQT4; brank-2
GeneCards (Weizmann)ANK2
Ensembl hg19 (Hinxton)ENSG00000145362 [Gene_View]  chr4:113739239-114304896 [Contig_View]  ANK2 [Vega]
Ensembl hg38 (Hinxton)ENSG00000145362 [Gene_View]  chr4:113739239-114304896 [Contig_View]  ANK2 [Vega]
ICGC DataPortalENSG00000145362
TCGA cBioPortalANK2
AceView (NCBI)ANK2
Genatlas (Paris)ANK2
WikiGenes287
SOURCE (Princeton)ANK2
Genetics Home Reference (NIH)ANK2
Genomic and cartography
GoldenPath hg19 (UCSC)ANK2  -     chr4:113739239-114304896 +  4q25   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)ANK2  -     4q25   [Description]    (hg38-Dec_2013)
EnsemblANK2 - 4q25 [CytoView hg19]  ANK2 - 4q25 [CytoView hg38]
Mapping of homologs : NCBIANK2 [Mapview hg19]  ANK2 [Mapview hg38]
OMIM106410   600919   
Gene and transcription
Genbank (Entrez)AF131823 AK021894 AK095596 AK128049 AK294720
RefSeq transcript (Entrez)NM_001127493 NM_001148 NM_020977
RefSeq genomic (Entrez)NC_000004 NC_018915 NG_009006 NT_016354 NW_004929320
Consensus coding sequences : CCDS (NCBI)ANK2
Cluster EST : UnigeneHs.620557 [ NCBI ]
CGAP (NCI)Hs.620557
Alternative Splicing GalleryENSG00000145362
Gene ExpressionANK2 [ NCBI-GEO ]   ANK2 [ EBI - ARRAY_EXPRESS ]   ANK2 [ SEEK ]   ANK2 [ MEM ]
Gene Expression Viewer (FireBrowse)ANK2 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)287
GTEX Portal (Tissue expression)ANK2
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ01484   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ01484  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ01484
Splice isoforms : SwissVarQ01484
PhosPhoSitePlusQ01484
Domaine pattern : Prosite (Expaxy)ANK_REP_REGION (PS50297)    ANK_REPEAT (PS50088)    DEATH_DOMAIN (PS50017)    ZU5 (PS51145)   
Domains : Interpro (EBI)Ankyrin-B    Ankyrin_rpt    Ankyrin_rpt-contain_dom    DEATH-like_dom    Death_domain    ZU5_dom   
Domain families : Pfam (Sanger)Ank (PF00023)    Ank_2 (PF12796)    Death (PF00531)    ZU5 (PF00791)   
Domain families : Pfam (NCBI)pfam00023    pfam12796    pfam00531    pfam00791   
Domain families : Smart (EMBL)ANK (SM00248)  DEATH (SM00005)  
Conserved Domain (NCBI)ANK2
DMDM Disease mutations287
Blocks (Seattle)ANK2
PDB (SRS)4D8O    4RLV    4RLY   
PDB (PDBSum)4D8O    4RLV    4RLY   
PDB (IMB)4D8O    4RLV    4RLY   
PDB (RSDB)4D8O    4RLV    4RLY   
Structural Biology KnowledgeBase4D8O    4RLV    4RLY   
SCOP (Structural Classification of Proteins)4D8O    4RLV    4RLY   
CATH (Classification of proteins structures)4D8O    4RLV    4RLY   
SuperfamilyQ01484
Human Protein AtlasENSG00000145362
Peptide AtlasQ01484
HPRD00110
IPIIPI00007834   IPI00305279   IPI00074962   IPI00895856   IPI00384928   IPI00853314   IPI00953101   IPI00966374   IPI00965839   IPI00966009   IPI00967854   IPI00964406   IPI00965719   IPI00966905   IPI00964706   IPI00966077   IPI00964176   
Protein Interaction databases
DIP (DOE-UCLA)Q01484
IntAct (EBI)Q01484
FunCoupENSG00000145362
BioGRIDANK2
STRING (EMBL)ANK2
ZODIACANK2
Ontologies - Pathways
QuickGOQ01484
Ontology : AmiGOregulation of heart rate  atrial septum development  structural constituent of cytoskeleton  protein binding  intracellular  cytosol  cytoskeleton  plasma membrane  cellular calcium ion homeostasis  ER to Golgi vesicle-mediated transport  cytoskeletal adaptor activity  positive regulation of gene expression  regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion  regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion  regulation of cardiac muscle contraction by calcium ion signaling  intercalated disc  basolateral plasma membrane  apical plasma membrane  enzyme binding  protein kinase binding  Z disc  T-tubule  spectrin binding  protein binding, bridging  paranodal junction assembly  M band  regulation of protein stability  A band  T-tubule organization  protein localization to organelle  protein localization to cell surface  cellular protein localization  protein localization to M-band  protein localization to T-tubule  sarcolemma  neuron projection  costamere  costamere  positive regulation of potassium ion transport  ion channel binding  ion channel binding  membrane raft  postsynaptic membrane  protein stabilization  ATPase binding  regulation of release of sequestered calcium ion into cytosol  response to methylmercury  regulation of calcium ion transport  positive regulation of calcium ion transport  regulation of cardiac muscle contraction  regulation of ventricular cardiac muscle cell membrane repolarization  sarcoplasmic reticulum calcium ion transport  protein localization to endoplasmic reticulum  protein localization to plasma membrane  protein localization to plasma membrane  protein targeting to plasma membrane  regulation of cardiac muscle cell contraction  ventricular cardiac muscle cell action potential  atrial cardiac muscle cell action potential  SA node cell action potential  membrane depolarization during SA node cell action potential  atrial cardiac muscle cell to AV node cell communication  SA node cell to atrial cardiac muscle cell communication  regulation of heart rate by cardiac conduction  regulation of heart rate by cardiac conduction  regulation of SA node cell action potential  regulation of atrial cardiac muscle cell action potential  positive regulation of potassium ion transmembrane transporter activity  regulation of calcium ion transmembrane transporter activity  positive regulation of calcium ion transmembrane transporter activity  positive regulation of cation channel activity  
Ontology : EGO-EBIregulation of heart rate  atrial septum development  structural constituent of cytoskeleton  protein binding  intracellular  cytosol  cytoskeleton  plasma membrane  cellular calcium ion homeostasis  ER to Golgi vesicle-mediated transport  cytoskeletal adaptor activity  positive regulation of gene expression  regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion  regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion  regulation of cardiac muscle contraction by calcium ion signaling  intercalated disc  basolateral plasma membrane  apical plasma membrane  enzyme binding  protein kinase binding  Z disc  T-tubule  spectrin binding  protein binding, bridging  paranodal junction assembly  M band  regulation of protein stability  A band  T-tubule organization  protein localization to organelle  protein localization to cell surface  cellular protein localization  protein localization to M-band  protein localization to T-tubule  sarcolemma  neuron projection  costamere  costamere  positive regulation of potassium ion transport  ion channel binding  ion channel binding  membrane raft  postsynaptic membrane  protein stabilization  ATPase binding  regulation of release of sequestered calcium ion into cytosol  response to methylmercury  regulation of calcium ion transport  positive regulation of calcium ion transport  regulation of cardiac muscle contraction  regulation of ventricular cardiac muscle cell membrane repolarization  sarcoplasmic reticulum calcium ion transport  protein localization to endoplasmic reticulum  protein localization to plasma membrane  protein localization to plasma membrane  protein targeting to plasma membrane  regulation of cardiac muscle cell contraction  ventricular cardiac muscle cell action potential  atrial cardiac muscle cell action potential  SA node cell action potential  membrane depolarization during SA node cell action potential  atrial cardiac muscle cell to AV node cell communication  SA node cell to atrial cardiac muscle cell communication  regulation of heart rate by cardiac conduction  regulation of heart rate by cardiac conduction  regulation of SA node cell action potential  regulation of atrial cardiac muscle cell action potential  positive regulation of potassium ion transmembrane transporter activity  regulation of calcium ion transmembrane transporter activity  positive regulation of calcium ion transmembrane transporter activity  positive regulation of cation channel activity  
Pathways : KEGGProteoglycans in cancer   
NDEx NetworkANK2
Atlas of Cancer Signalling NetworkANK2
Wikipedia pathwaysANK2
Orthology - Evolution
OrthoDB287
GeneTree (enSembl)ENSG00000145362
Phylogenetic Trees/Animal Genes : TreeFamANK2
HOVERGENQ01484
HOGENOMQ01484
Homologs : HomoloGeneANK2
Homology/Alignments : Family Browser (UCSC)ANK2
Gene fusions - Rearrangements
Fusion : MitelmanANK2/ARHGAP10 [4q25/4q31.23]  
Fusion: TCGAANK2 4q25 ALPK1 4q25 LGG LUAD
Fusion: TCGAANK2 4q25 ARHGAP10 4q31.23 GBM
Fusion: TCGACAMK2D 4q26 ANK2 4q25 LGG
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerANK2 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)ANK2
dbVarANK2
ClinVarANK2
1000_GenomesANK2 
Exome Variant ServerANK2
ExAC (Exome Aggregation Consortium)ANK2 (select the gene name)
Genetic variants : HAPMAP287
Genomic Variants (DGV)ANK2 [DGVbeta]
DECIPHER (Syndromes)4:113739239-114304896  ENSG00000145362
CONAN: Copy Number AnalysisANK2 
Mutations
ICGC Data PortalANK2 
TCGA Data PortalANK2 
Broad Tumor PortalANK2
OASIS PortalANK2 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICANK2  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDANK2
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
LOVD (Leiden Open Variation Database)Zhejiang University Center for Genetic and Genomic Medicine (ZJU-CGGM)
BioMutasearch ANK2
DgiDB (Drug Gene Interaction Database)ANK2
DoCM (Curated mutations)ANK2 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)ANK2 (select a term)
intoGenANK2
Cancer3DANK2(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM106410    600919   
Orphanet14727   
MedgenANK2
Genetic Testing Registry ANK2
NextProtQ01484 [Medical]
TSGene287
GENETestsANK2
Huge Navigator ANK2 [HugePedia]
snp3D : Map Gene to Disease287
BioCentury BCIQANK2
ClinGenANK2
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD287
Chemical/Pharm GKB GenePA24799
Clinical trialANK2
Miscellaneous
canSAR (ICR)ANK2 (select the gene name)
Probes
Litterature
PubMed73 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineANK2
EVEXANK2
GoPubMedANK2
iHOPANK2
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Fri Nov 18 19:30:52 CET 2016

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