ANK2 Gene
protein-coding GIFtS: 62
GCID: GC04P113739
|
|
ankyrin 2, neuronal(Previous name: long (electrocardiographic) QT syndrome 4 )
(Previous symbol: LQT4)
| |
Aliases
for ANK2 gene
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc,
7Ensembl,
8DME,
9miRBase,
and/or 10fRNAdb)
About This Section
|
| Aliases |
|---|
| Ankyrin 2, Neuronal1 2 | | Ankyrin, Brain2 | | LQT41 2 5 | | Ankyrin-21 | | Non-Erythroid Ankyrin2 3 | | Ankyrin-2, Nonerythrocytic2 | | ANK-22 3 | | Brank-21 | | Long (Electrocardiographic) QT Syndrome 41 | | Ankyrin-B3 | | Ankyrin B2 | | Brain Ankyrin3 |
Export aliases for ANK2 gene to outside databasesPrevious GC identifers: GC04P114383 GC04P114251 GC04P114132 GC04P114429 GC04P114328 GC04P113970 GC04P109467 |
Summaries
for ANK2 gene(According to Entrez Gene,
Tocris Bioscience,
Wikipedia's
Gene Wiki,
PharmGKB,
UniProtKB/Swiss-Prot,
and/or
UniProtKB/TrEMBL)
About This Section
|
Entrez Gene summary for ANK2:
This gene encodes a member of the ankyrin family of proteins that link the integral membrane proteins to the underlyingspectrin-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 structuraldomains: an amino-terminal domain containing multiple ankyrin repeats; a central region with a highly conservedspectrin binding domain; and a carboxy-terminal regulatory domain which is the least conserved and subject tovariation. The protein encoded by this gene is required for targeting and stability of Na/Ca exchanger 1 incardiomyocytes. Mutations in this gene cause long QT syndrome 4 and cardiac arrhythmia syndrome. Multiple transcriptvariants encoding different isoforms have been described. (provided by RefSeq, Dec 2011)
UniProtKB/Swiss-Prot: ANK2_HUMAN, Q01484Function: In skeletal muscle, required for proper localization of DMD and DCTN4 and for the formation and/or stabilityof a special subset of microtubules associated with costameres and neuromuscular junctions (By similarity). Attachesintegral membrane proteins to cytoskeletal elements. Also binds to cytoskeletal proteins. Required for coordinateassembly 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 innersegment of rod photoreceptors. Required for expression and targeting of SPTBN1 in neonatal cardiomyocytes and for theregulation of neonatal cardiomyocyte contraction rate
|
Genomic Views
for ANK2 gene
(According to
GeneLoc and/or
HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to
UCSC (hg19) and
Ensembl (release 69),
Regulatory elements and Epigenetics data according to
QIAGEN,
SABiosciences, and/or
SwitchGear Genomics)
About This Section
| RefSeq DNA sequence:- NC_000004.11 NC_018915.1 NT_016354.19
Regulatory elements:
 SABiosciences Regulatory transcription factor binding sites in the ANK2 gene promoter:
E2F-4 E2F-3a E2F-5 E2F-1 E2F p53 E2F-2 Pax-4a En-1
Other transcription factors
Search SABiosciences Chromatin IP Primers for ANK2
Epigenetics:
| | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat ANK2 |
Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track
Entrez Gene cytogenetic band: 4q25-q27 Ensembl cytogenetic band: 4q25 HGNC cytogenetic band: 4q25-q26ANK2 Gene in genomic location: bands according to Ensembl, locations according to
 (and/or Entrez Gene and/or Ensembl if different)
GeneLoc information about chromosome 4 GeneLoc Exon Structure GeneLoc location for GC04P113739: view genomic region
(about GC identifiers)
Start:
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113,739,239 bp from pter |
End:
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114,304,896 bp from pter |
Size:
|
565,658 bases |
Orientation:
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plus strand |
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Proteins
for ANK2 gene
(According to
1UniProtKB,
HORDE,
neXtProt,
Ensembl,
and/or Reactome,
Modification sites according to 2PhosphoSitePlus,
Specific Peptides from DME,
Protein expression images according to data from SPIRE MOPED and PaxDb,
RefSeq according to NCBI,
PDB rendering according to OCA and/or Proteopedia,
Recombinant Proteins
from
EMD Millipore,
R&D Systems,
GenScript,
Enzo Life Sciences,
OriGene,
Novus Biologicals,
Sino Biological,
ProSpec, and/or
Uscn,
Biochemical Assays by
EMD Millipore,
R&D Systems,
OriGene,
GenScript,
Cell Signaling Technology,
Enzo Life Sciences, and/or
Uscn,
Ontologies according to Gene
Ontology Consortium 01 Mar 2013 and
Entrez Gene,
Antibodies by
EMD Millipore,
R&D Systems,
GenScript,
Cell Signaling Technology,
OriGene,
Novus Biologicals,
Thermo Fisher Scientific,
Abcam, and/or
Uscn)
About This Section
|
UniProtKB/Swiss-Prot: ANK2_HUMAN, Q01484 (See
protein sequence)Recommended Name: Ankyrin-2 Size: 3957 amino acids; 433715 Da
Subunit: Directly interacts with DMD; this interaction is necessary for DMD localization at the sarcolemma. Interactswith DCTN4; this interaction is required for DCTN4 retention at costameres (By similarity). Interacts with RHBG andSPTBN1
Subcellular location: Cytoplasm, cytoskeleton. Membrane. Cytoplasm, myofibril, sarcomere, M line (By similarity).Apical cell membrane (By similarity). Cell membrane. Cell junction, synapse, postsynaptic cell membrane (Bysimilarity). Note=Expressed at the apical membrane of airway lung epithelial cells (By similarity). Localized to theplasma membrane of the inner segments of photoreceptors in retina. Colocalizes with SPTBN1 in a distict intracellularcompartment of neonatal cardiomyocytes (By similarity). In skeletal muscle, localizes to neuromuscular junctions (Bysimilarity)
Sequence caution: Sequence=AAI25237.1; Type=Frameshift; Positions=1405; Sequence=CAB42644.1; Type=Miscellaneousdiscrepancy; Note=CDS lacks C-terminal region which is nevertheless present in the underlying cDNA;
1 PDB 3D structure from  and Proteopedia  for ANK2:4D8O (3D)
Secondary accessions: Q01485 Q08AC7 Q08AC8 Q7Z3L5Alternative splicing: 4 isoforms: Q01484-4 Q01484-2 Q01484-5 Q01484-7 (No experimental confirmation available)Explore the universe of human proteins at neXtProt for ANK2: NX_Q01484
Post-translational modifications:
Phosphorylated at multiple sites by different protein kinases and each phosphorylation event regulates the protein'sstructure and function (Potential)1
View modification sites using PhosphoSitePlus2View neXtProt modification sites for NX_Q01484
ANK2 Protein expression data from MOPED and PaxDb: About this image 
REFSEQ proteins (3 alternative transcripts):
NP_001120965.1 NP_001139.3 NP_066187.2
ENSEMBL proteins: ENSP00000423799 ENSP00000421011 ENSP00000421067 ENSP00000424722 ENSP00000378044 ENSP00000349588 ENSP00000264366 ENSP00000422900 ENSP00000425775 ENSP00000421059 ENSP00000426944 ENSP00000422853 ENSP00000426994 ENSP00000421023 ENSP00000422498 ENSP00000422888 ENSP00000422486 Reactome Protein details: Q01484
Human Recombinant Protein Products for ANK2:
Gene Ontology (GO): 5/17 cellular component terms (GO ID links to tree view) (see all 17): About this table
ANK2 for ontologies About GeneDecksing
ANK2 Antibody Products:
Assay Products for ANK2: |
Protein
Domains /
Families
for ANK2 gene(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
|
ANK2 for domains About GeneDecksing
5 InterPro domains/families:Graphical View of Domain Structure for InterPro Entry Q01484ProtoNet protein and cluster: Q01484 3 Blocks protein families: IPB000488 Death domain IPB000906 ZU5 domain IPB002110 Ankyrin repeat signature
UniProtKB/Swiss-Prot: ANK2_HUMAN, Q01484Domain: The tandem configuration of the two ZU5 and the UPA domains forms a structural supramodule termed ZZU. ZU5-1mediates interaction with beta-spectrin, and the ZU5-1/UPA interface is required for ankyrin's function other thanbinding to spectrinSimilarity: Contains 24 ANK repeatsSimilarity: Contains 2 death domainsSimilarity: Contains 2 ZU5 domains |
Function
for ANK2 gene
(According to 1UniProtKB,
Genatlas,
LifeMap Discovery™,
IUBMB, and/or
2DME,
Human phenotypes from GenomeRNAi,
Animal models from MGI Mar 06 2013,
inGenious Targeting Laboratory,
bound targets from SABiosciences,
miRNA Gene Targets from miRTarBase,
shRNA from
OriGene,
Sirion Biotech,
RNAi from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
microRNA from QIAGEN,
Gene Editing from DNA2.0,
Sirion Biotech,
Clones from EMD Millipore,
OriGene,
SwitchGear Genomics,
GenScript,
Sino Biological,
DNA2.0,
and Vector BioLabs,
Cell Lines from GenScript,
LifeMap BioReagents,
Sirion Biotech,
In Situ Hybridization Assays from Advanced Cell Diagnostics,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene.)
About This Section
|
Molecular Function:
UniProtKB/Swiss-Prot Summary: ANK2_HUMAN, Q01484Function: In skeletal muscle, required for proper localization of DMD and DCTN4 and for the formation and/or stabilityof a special subset of microtubules associated with costameres and neuromuscular junctions (By similarity). Attachesintegral membrane proteins to cytoskeletal elements. Also binds to cytoskeletal proteins. Required for coordinateassembly 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 innersegment of rod photoreceptors. Required for expression and targeting of SPTBN1 in neonatal cardiomyocytes and for theregulation of neonatal cardiomyocyte contraction rate Genatlas biochemistry entry for ANK2:ankyrin 2,non erythrocytic,intermediate filament associated protein (IFAP,type III)
Gene Ontology (GO): 5/8 molecular function terms (GO ID links to tree view) (see all 8): About this table
ANK2 for ontologies About GeneDecksing
Phenotypes:
1 GenomeRNAi human phenotype for ANK2:
7 MGI mutant phenotypes (inferred from 1 allele ) (MGI details for Ank2):
ANK2 for phenotypes About GeneDecksing
Animal Models:
Mouse knock-out Ank2tm1Bnt for ANK2
Clone
Products: |  | Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore | |  | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for ANK2 (see all 5)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for ANK2 (see all 3)
OriGene custom cloning services - gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling 
| |  | GenScript: all cDNA clones in your preferred vector (see all 3): ANK2 (NM_001148) | |  | Browse Sino Biological Human cDNA Clones | |  | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for ANK2 | |  | Search Vector BioLabs for ready-to-use adenovirus/AAV for human, mouse, rat ANK2 |
In Situ Assay
Products: |
 | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ANK2 |
|
Pathways & Interactions
for ANK2 gene
(Pathways according to
EMD Millipore,
R&D Systems,
Cell Signaling Technology,
KEGG,
PharmGKB,
BioSystems,
Reactome,
Tocris Bioscience,
GeneGo (Thomson Reuters),
QIAGEN,
and/or UniProtKB,
Sets of similar genes according to GeneDecks,
Interaction Networks according to
SABiosciences,
and/or STRING,
Interactions according to 1UniProtKB,
2MINT,
3I2D, and/or
4STRING,
with links to IntAct and
Ensembl,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene).
About This Section
|
Unified GeneCards pathways About this table
See pathways by source
| Super-pathway | contained gene-specific pathways |
|---|
| 1 | Axon guidance | | | 2 | Interaction between L1 and Ankyrins | | | 3 | Antiarrhythmic Pathway, Pharmacodynamics | |
Pathway sources
See GeneCards unified pathways
Show all pathways
4 
Reactome Pathways for ANK2
1  PharmGKB Pathway for ANK2
ANK2 for pathways About GeneDecksing
Interactions:
SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for ANK2
STRING Interaction
Network Preview (showing 5 interactants - click image to see 25)
5/39 Interacting proteins for ANK2 (Q014841, 2, 3 ENSP000003495884) via UniProtKB, MINT, STRING, and/or I2D (see all 39)About this table
Gene Ontology (GO): 5/39 biological process terms (GO ID links to tree view) (see all 39): About this table
ANK2 for ontologies About GeneDecksing
|
Drugs & Compounds
for ANK2 gene(Chemical Compounds according to UniProtKB, Enzo Life Sciences,
EMD Millipore, Tocris Bioscience
HMDB,
BitterDB, and/or
Novoseek, and Drugs according to
DrugBank,
Enzo Life Sciences, and/or
PharmGKB, with drugs/clinical trials/news
search links to CenterWatch)
About This Section
|
ANK2 for compounds About GeneDecksing
 Browse Tocris compounds for ANK2
3 Novoseek chemical compound relationships for ANK2 gene About this table
Search CenterWatch for drugs/clinical trials and news about ANK2
|
Transcripts
for ANK2 gene(Secondary structures according to
fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or
AceView,
transcript ids from Ensembl
with links to UCSC,
exon structure from GeneLoc,
alternative splicing isoforms according to ASD and/or
ECgene,
RNAi Products from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
shRNA from
OriGene,
Sirion Biotech,
microRNA from QIAGEN,
Tagged/untagged cDNA clones from
OriGene,
SwitchGear Genomics,
GenScript,
DNA2.0,
Vector BioLabs,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN
)
About This Section
|
REFSEQ mRNAs for ANK2 gene (3 alternative transcripts): NM_001127493.1 NM_001148.4 NM_020977.3 Unigene Cluster for ANK2: Ankyrin 2, neuronal Hs.620557 [show with all ESTs]Unigene Representative Sequence: NM_00114818/25 Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 25): ENST00000503271 ENST00000503423 ENST00000506722(uc003ibc.2 uc003ibd.4)
ENST00000504454 ENST00000514246 ENST00000394537 ENST00000357077(uc011cgb.1 uc003ibe.4 uc003ibf.4 uc011cgc.2)
ENST00000264366 ENST00000508613 ENST00000512999 ENST00000511380 ENST00000515034
ENST00000509550 ENST00000502701 ENST00000515644 ENST00000514960(uc003ibg.4 uc003ibh.4)
ENST00000514160 ENST00000504887
Clone
Products: | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for ANK2 (see all 5)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for ANK2 (see all 3)
OriGene custom cloning services - gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling
| | | GenScript: all cDNA clones in your preferred vector (see all 3): ANK2 (NM_001148) | | | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for ANK2 | | | Search Vector BioLabs for ready-to-use adenovirus/AAV for human, mouse, rat ANK2 |
Additional cDNA sequence: AF131823.1 AK021894.1 AK095596.1 AK128049.1 AK294720.1 AK299767.1 AK299815.1 AK299893.1 AK307601.1 BC017986.1 BC047498.1 BC125235.1 BC125236.1 BX537758.1 BX538132.1 BX538239.1 DQ925692.1 DQ925693.1 X56957.1 X56958.2 Z26634.2 24 DOTS entries: DT.447644 DT.100777845 DT.91747668 DT.91739745 DT.100777840 DT.99971372 DT.100777841 DT.121257819 DT.40213674 DT.95213758 DT.97762373 DT.40123217 DT.91787899 DT.100642065 DT.121257779 DT.121257784 DT.121257902 DT.97768810 DT.100777842 DT.121257785 DT.121257885 DT.75119078 DT.75176435 DT.75193347 24/227 AceView cDNA sequences (see all 227): BM690023 AL712643 NM_020977 CD679539 T16619 BX537758 BE349232 AI252220 AA350438 AL537825 AI287987 AU132049 X56957 F03344 AA285185 AL043865 AA311664 AW316545 AI129314 F13505 AA975079 Z44178 AW129277 BQ006948
GeneLoc Exon Structure
5/8 Alternative Splicing Database (ASD) splice patterns (SP) for ANK2 (see all 8) About this scheme
| 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: | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | |
| 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: | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | |
ECgene alternative splicing isoforms for ANK2
|
Expression
for ANK2 gene
(RNA expression data according to
H-InvDB,
NONCODE,
miRBase, and
RNAdb,
Expression images according to data from
BioGPS,
Illumina Human BodyMap, and
CGAP
SAGE,
Sets of similar genes according to GeneDecks,
in vivo and in vitro expression data from LifeMap Discovery™,
plus additional links to
Genevestigator, and/or
SOURCE, and/or
BioGPS, and/or
UniProtKB,
PCR Arrays from
SABiosciences,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN,
In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section
| ANK2 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: TATTAGTTAA
About this image
See ANK2 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for ANK2
SOURCE GeneReport for Unigene cluster: Hs.620557
UniProtKB/Swiss-Prot: ANK2_HUMAN, Q01484Tissue specificity: Present in plasma membrane of neurons as well as glial cells throughout the brain. Expressed infetal brain and in temporal cortex of adult brain. Also expressed in the inner segments of rod photoreceptors inretina
SABiosciences Custom PCR Arrays for ANK2
Primer
Products: | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for ANK2
Browse OriGene validated miRNA SYBR primer pairs
| | | SABiosciences RT2 qPCR Primer Assay in human, mouse / rat ANK2 | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat ANK2 | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat ANK2 | In Situ
Assay Products: |
| Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ANK2 |
Orthologs
for ANK2 gene
(Orthologs according to
1,2HomoloGene (2older version, for species not in 1newer version),
3euGenes,
4SGD
,
5MGI Mar 06 2013,
with possible further links to
Flybase
and/or
WormBase,
and/or
6Ensembl pan taxonomic compara ,
Gene Trees according to Ensembl and
TreeFam)
About This Section
|
This gene was present in the common ancestor of eukaryotes.
Orthologs for ANK2 gene from 7/24 species (see all 24) About this table
| Organism |
Taxonomic
classification |
Gene |
Description |
Human
Similarity |
Orthology
Type |
Details |
chicken
(Gallus gallus) |
Aves |
ANK21 |
ankyrin 2, neuronal |
62.87(n)
61.87(a) |
|
422689 XM_420641.3 XP_420641.3 |
lizard
(Anolis carolinensis) |
Reptilia |
-- |
-- |
65(a) |
1 ↔ 1 |
5(142563237-142660215) |
African clawed frog
(Xenopus laevis) |
Amphibia |
Xl.85172 |
Xenopus laevis transcribed sequence with strong similarity more |
87.41(n) |
|
AW158520.1 |
zebrafish
(Danio rerio) |
Actinopterygii |
BI845253.12 |
-- |
77.08(n) |
|
BI845253.1 |
fruit fly
(Drosophila melanogaster) |
Insecta |
Ank23 |
cytoskeletal anchoring cytoskeletal protein
binding |
60(a)
(best of 4) |
|
66A10 -- |
worm
(Caenorhabditis elegans) |
Secernentea |
unc-443 |
-- |
55(a)
(best of 3) |
|
IV(5975764-5987452) -- |
rice
(Oryza sativa) |
Liliopsida |
-- |
ankyrin repeat domain-containing protein 50, putat... |
24(a) |
possible ortholog |
3(25568429-25570099) |
ENSEMBL Gene Tree for ANK2 (if available)
TreeFam Gene Tree for ANK2 (if available) |
Paralogs
for ANK2 gene(Paralogs according to
1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
About This Section
| Paralogs for ANK2 gene
- TANC22 TNKS22 ANKRD172 ANK32 ANKHD12 ANK12 ANKRD522 ANKHD1-EIF4EBP32
- TNKS2 ANKRD502 TANC12 INVS2 ANKRD282 ANKRD442
18/45 SIMAP similar genes for ANK2 using alignment to 17 protein entries: ANK2_HUMAN (see all proteins)
(see all similar genes):DKFZp686P0948 DKFZp566P0524 DKFZp686M09125 ANK3 ANKRD54 ANK1
IkBa MIB2 ANKHD1 ASB2 TNKS RAI14
ANKRD39 ANKRD42 CDKN2C GABPB1 ANKRD12 KIDINS220
ANK2 for paralogs About GeneDecksing
|
Genomic Variants
for ANK2 gene(SNPs/Variants according to the
1NCBI SNP Database,
2Ensembl,
3PupaSUITE,
UniProtKB, and
DNA2.0,
Linkage Disequilibrium by HapMap,
Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene
Mutation Database (HGMD) and the Locus Specific Mutation
Databases (LSDB), Blood group antigen gene mutations by BGMUT,
Resequencing Primers from QIAGEN,
Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section
|
| Genomic Data | Transcription Related Data | Allele Frequencies | | SNP ID | Valid | Clinical
significance | Chr 4 pos | Sequence | # | AA
Chg | Type | More | # | Allele
freq | Pop | Total
sample | More |
|---|
HapMap Linkage Disequilibrium report for ANK2 (113739239 - 113989239 bp, first 250kb of ANK2)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 10 variations for ANK2
2 CNVs: 98851 63932
8 Indels: 40678 98852 46483 12527 46482 40676 40677 12528
Human Gene Mutation Database (HGMD): ANK2
Locus Specific Mutation Databases (LSDB): ANK2
| SABiosciences Cancer Mutation PCR Assays |
| | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing ANK2 |
|
Disorders
/ Diseases
for ANK2 gene
(in which this Gene is Involved, According to MalaCards,
OMIM, UniProtKB,
the University of Copenhagen DISEASES
database, Novoseek,
Genatlas, GeneTests,
GAD,
HuGE Navigator,
and/or TGDB.)
About This Section
|
ANK2 for disorders About GeneDecksing
OMIM gene information: 106410
OMIM disorders: 600919
UniProtKB/Swiss-Prot: ANK2_HUMAN, Q01484
Defects in ANK2 are the cause of long QT syndrome type 4 (LQT4) [MIM:600919]; also known as sick sinussyndrome with bradycardia. Long QT syndromes are heart disorders characterized by a prolonged QT interval on the ECGand polymorphic ventricular arrhythmias. They cause syncope and sudden death in response to exercise or emotionalstress. LQT4 displays many atypical features compared to classical long QT syndromes, including pronounced sinusbradycardia, polyphasic T waves and atrial fibrillation. Cardiac repolarization defects may be not as severe as inclassical LQT syndromes and prolonged QT interval on EKG is not a consistent feature
20/23  diseases for ANK2 (see all 23): About MalaCardslong qt syndrome 4 long qt syndrome cardiac arrhythmia, ankyrin-b-related catecholaminergic polymorphic ventricular tachycardia
ventricular tachycardia beta thalassemia hereditary spherocytosis atrial fibrillation
neuronitis legionnaires' disease alcohol dependence sinusitis
spherocytosis thalassemia myocardial infarction cataract
alcoholism alzheimer's disease prostate cancer neuroblastoma
2 diseases from the University of Copenhagen DISEASES database for ANK2:Long QT syndrome Brugada syndrome 7 Novoseek disease relationships for ANK2 gene About this table
Genetic Association Database (GAD): ANK2
Human Genome Epidemiology (HuGE) Navigator: ANK2 (9 documents)
Export disorders for ANK2 gene to outside databases
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Publications
for ANK2 gene (in
PubMed.
Associations of this gene to articles via
1Entrez Gene,
2UniProtKB/Swiss-Prot,
3HGNC,
4GAD,
5PharmGKB,
6HMDB,
7DrugBank,
8UniProtKB/TrEMBL,
9 Novoseek, and/or
10fRNAdb)
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PubMed articles for ANK2 gene, integrated from 9 sources (see all 102):
(articles sorted by number of sources associating them with ANK2) | |  | Utopia: connect your pdf to the dynamic
world of online information |
- Ankyrin-B mutation causes type 4 long-QT cardiac arrhythmia and sudden cardiac death. (PubMed id 12571597)1, 2, 3 Mohler P.J.... Bennett V. (2003)
- A cardiac arrhythmia syndrome caused by loss of ankyrin-B function. (PubMed id 15178757)1, 2, 9 Mohler P.J.... Bennett V. (2004)
- Ankyrin-B targets beta2-spectrin to an intracellular compartment in neonatal cardiomyocytes. (PubMed id 15262991)1, 2, 9 Mohler P.J.... Bennett V. (2004)
- Isolation and characterization of cDNAs encoding human brain ankyrins reveal a family of alternatively spliced genes. (PubMed id 1830053)1, 2, 9 Otto E.... Bennett V. (1991)
- Isolation and chromosomal localization of a novel nonerythroid ankyrin gene. (PubMed id 1833308)1, 2, 9 Tse W.T.... Forget B.G. (1991)
- The ammonium transporter RhBG: requirement of a tyrosine-based signal and ankyrin-G for basolateral targeting and membrane anchorage in polarized kidney epithelial cells. (PubMed id 15611082)1, 2 Lopez C.... Colin Y. (2005)
- Identification of a common genetic substrate underlying postpartum cardiac events in congenital long QT syndrome. (PubMed id 15851119)1, 4 Khositseth A....Ackerman M.J. (2004)
- Mapping of a gene for long QT syndrome to chromosome 4q25-27. (PubMed id 7485162)1, 3 Schott J.J....Moisan J.P. (1995)
- 440-kD ankyrinB: structure of the major developmentally regulated domain and selective localization in unmyelinated axons. (PubMed id 8253844)1, 2 Chan W.... Bennett V. (1993)
- Defining the cellular phenotype of 'ankyrin-B syndrome' variants: human ANK2 variants associated with clinical phenotypes display a spectrum of activities in cardiomyocytes. (PubMed id 17242276)1, 9 Mohler P.J....Roden D.M. (2007)
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External Searches for ANK2 gene
(in PubMed,
OMIM, and NCBI Bookshelf)
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Genome Databases showing ANK2 gene
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
Kegg,
and/or
H-InvDB)
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Other Databases showing ANK2 gene
(According to HUGE)
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Specialized Databases showing ANK2 gene(According to PharmGKB,
ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
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| Name | Description |
| PharmGKB entry for ANK2 | Pharmacogenomics, SNPs, Pathways | | ATLAS Chromosomes in Cancer entry for ANK2 | Genetics and Cytogenetics in Oncology and Haematology | | GeneReviews | http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/ANK2 | | Wikipedia | http://en.wikipedia.org/wiki/Ankyrin |
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| Patent Information for ANK2 gene:
Search GeneIP for patents involving ANK2
GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
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Products
for ANK2 gene(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, LifeMap BioReagents, and Sirion Biotech, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or
Enzo Life Sciences, In Situ Hybridization Assays from
Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory)
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