Human Gene ANK2 (ENST00000514960.5) from GENCODE V44
  Description: The sequence shown here is derived from an Ensembl automatic analysis pipeline and should be considered as preliminary data. (from UniProt H0Y931)
RefSeq Summary (NM_001354228): 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]. Sequence Note: The RefSeq transcript and protein were derived from genomic sequence to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on alignments.
Gencode Transcript: ENST00000514960.5
Gencode Gene: ENSG00000145362.21
Transcript (Including UTRs)
   Position: hg38 chr4:113,318,585-113,383,732 Size: 65,148 Total Exon Count: 20 Strand: +
Coding Region
   Position: hg38 chr4:113,318,585-113,381,471 Size: 62,887 Coding Exon Count: 20 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsOther NamesMethods
Data last updated at UCSC: 2023-08-18 00:09:47

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr4:113,318,585-113,383,732)mRNA (may differ from genome)Protein (962 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaAlphaFold
BioGPSEnsemblExonPrimerGencodeGeneCardsHGNC
LynxMalacardsMGImyGene2PubMedUniProtKB
Wikipedia

-  Comments and Description Text from UniProtKB
  ID: H0Y931_HUMAN
DESCRIPTION: SubName: Full=Ankyrin-2; Flags: Fragment;
CAUTION: The sequence shown here is derived from an Ensembl automatic analysis pipeline and should be considered as preliminary data.

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: ANK2
Diseases sorted by gene-association score: cardiac arrhythmia, ankyrin-b-related* (900), long qt syndrome 1* (139), long qt syndrome (26), sudden cardiac death (13), long qt syndrome 14 (12), catecholaminergic polymorphic ventricular tachycardia (10), long qt syndrome-3 (9), long qt syndrome 5 (8), long qt syndrome 6 (7), long qt syndrome 2 (7), ventricular tachycardia, catecholaminergic polymorphic, 1 (5), atrial fibrillation (5)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 39.88 RPKM in Brain - Cerebellum
Total median expression: 425.15 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
3' UTR -590.602261-0.261 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR000488 - Death
IPR011029 - DEATH-like
IPR000906 - ZU5

Pfam Domains:
PF00531 - Death domain
PF00791 - ZU5 domain

ModBase Predicted Comparative 3D Structure on H0Y931
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The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
Genome BrowserGenome BrowserNo orthologNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
MGIRGD    
Protein SequenceProtein Sequence    
AlignmentAlignment    

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Biological Process:
GO:0007165 signal transduction

Cellular Component:
GO:0005886 plasma membrane


-  Descriptions from all associated GenBank mRNAs
  AK095596 - Homo sapiens cDNA FLJ38277 fis, clone FCBBF3004955, highly similar to ANKYRIN 2.
AK299815 - Homo sapiens cDNA FLJ61595 partial cds, highly similar to Ankyrin-2.
BX537758 - Homo sapiens mRNA; cDNA DKFZp686H0688 (from clone DKFZp686H0688); complete cds.
AK299767 - Homo sapiens cDNA FLJ55887 partial cds, highly similar to Ankyrin-2.
AK307601 - Homo sapiens cDNA, FLJ97549.
X56958 - Homo sapiens mRNA for ankyrin, Brank-2 protein.
BC172793 - Synthetic construct Homo sapiens clone IMAGE:9094279 ankyrin 2 isoform 1 (ANK2) gene, partial cds.
AB385222 - Synthetic construct DNA, clone: pF1KB9463, Homo sapiens ANK2 gene for ankyrin-2, complete cds, without stop codon, in Flexi system.
Z26634 - Homo sapiens mRNA for ankyrin B (440 kDa).
AK294720 - Homo sapiens cDNA FLJ54703 complete cds, highly similar to Homo sapiens ankyrin 2, neuronal (ANK2), transcript variant 2, mRNA.
BX538132 - Homo sapiens mRNA; cDNA DKFZp686M09125 (from clone DKFZp686M09125).
AK299893 - Homo sapiens cDNA FLJ54540 complete cds, highly similar to Homo sapiens ankyrin 2, neuronal (ANK2), transcript variant 2, mRNA.
BC125235 - Homo sapiens ankyrin 2, neuronal, mRNA (cDNA clone IMAGE:40125281), complete cds.
BC125236 - Homo sapiens ankyrin 2, neuronal, mRNA (cDNA clone IMAGE:40125284), complete cds.
BX538239 - Homo sapiens mRNA; cDNA DKFZp686P0948 (from clone DKFZp686P0948); complete cds.
BC172796 - Synthetic construct Homo sapiens clone IMAGE:9094282 ankyrin 2 isoform 1 (ANK2) gene, partial cds.
DQ925692 - Homo sapiens clone A06 ankyrin 2 (ANK2) mRNA, partial cds, alternatively spliced.
DQ925693 - Homo sapiens clone C10 ankyrin 2 (ANK2) mRNA, partial cds, alternatively spliced.
AK128049 - Homo sapiens cDNA FLJ46169 fis, clone TESTI4003319.
JD248274 - Sequence 229298 from Patent EP1572962.
JD094612 - Sequence 75636 from Patent EP1572962.
JD039462 - Sequence 20486 from Patent EP1572962.
JD102632 - Sequence 83656 from Patent EP1572962.
JD371577 - Sequence 352601 from Patent EP1572962.
JD142129 - Sequence 123153 from Patent EP1572962.
JD287456 - Sequence 268480 from Patent EP1572962.
JD324159 - Sequence 305183 from Patent EP1572962.
JD562284 - Sequence 543308 from Patent EP1572962.
JD156051 - Sequence 137075 from Patent EP1572962.
JD311424 - Sequence 292448 from Patent EP1572962.
BC047498 - Homo sapiens cDNA clone IMAGE:5315032.
BC017986 - Homo sapiens, clone IMAGE:4246029, mRNA.

-  Other Names for This Gene
  Alternate Gene Symbols: ENST00000514960.1, ENST00000514960.2, ENST00000514960.3, ENST00000514960.4, H0Y931, H0Y931_HUMAN, NM_001386167, uc062zdl.1
UCSC ID: ENST00000514960.5
RefSeq Accession: NM_001354228
Protein: H0Y931

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.