Homo sapiens Gene: ANK2
Summary
InnateDB Gene IDBG-34685.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol ANK2
Gene Name ankyrin 2, neuronal
Synonyms ANK-2; brank-2; LQT4;
Species Homo sapiens
Ensembl Gene ENSG00000145362
Encoded Proteins
ankyrin 2, neuronal
ankyrin 2, neuronal
ankyrin 2, neuronal
ankyrin 2, neuronal
ankyrin 2, neuronal
ankyrin 2, neuronal
ankyrin 2, neuronal
ankyrin 2, neuronal
ankyrin 2, neuronal
ankyrin 2, neuronal
ankyrin 2, neuronal
ankyrin 2, neuronal
ankyrin 2, neuronal
ankyrin 2, neuronal
ankyrin 2, neuronal
ankyrin 2, neuronal
ankyrin 2, neuronal
ankyrin 2, neuronal
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary 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]
Gene Information
Type Protein coding
Genomic Location Chromosome 4:112818109-113383740
Strand Forward strand
Band q25
Transcripts
ENST00000357077 ENSP00000349588
ENST00000264366 ENSP00000264366
ENST00000394537 ENSP00000378044
ENST00000506722 ENSP00000421067
ENST00000503271 ENSP00000423799
ENST00000503423 ENSP00000421011
ENST00000504454 ENSP00000424722
ENST00000514246
ENST00000508613 ENSP00000422900
ENST00000512999
ENST00000511380 ENSP00000425775
ENST00000515034 ENSP00000421059
ENST00000509550 ENSP00000426944
ENST00000502701
ENST00000515644
ENST00000514960 ENSP00000422853
ENST00000514160
ENST00000504887
ENST00000504415 ENSP00000426994
ENST00000510275 ENSP00000421023
ENST00000508007
ENST00000512298
ENST00000505342 ENSP00000422498
ENST00000506344 ENSP00000422888
ENST00000514167 ENSP00000422486
ENST00000612754 ENSP00000482888
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 14 experimentally validated interaction(s) in this database.
Experimentally validated
Total 14 [view]
Protein-Protein 14 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Gene Ontology

Molecular Function
Accession GO Term
GO:0005200 structural constituent of cytoskeleton
GO:0005515 protein binding
GO:0015459 potassium channel regulator activity
GO:0019899 enzyme binding
GO:0019901 protein kinase binding
GO:0030507 spectrin binding
GO:0030674 protein binding, bridging
GO:0044325 ion channel binding
GO:0051117 ATPase binding
Biological Process
GO:0002027 regulation of heart rate
GO:0003283 atrial septum development
GO:0006874 cellular calcium ion homeostasis
GO:0007165 signal transduction
GO:0007399 nervous system development
GO:0007411 axon guidance
GO:0008104 protein localization
GO:0010628 positive regulation of gene expression
GO:0010881 regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion
GO:0010882 regulation of cardiac muscle contraction by calcium ion signaling
GO:0030913 paranodal junction assembly
GO:0031647 regulation of protein stability
GO:0033292 T-tubule organization
GO:0033365 protein localization to organelle
GO:0034394 protein localization to cell surface
GO:0034613 cellular protein localization
GO:0036309 protein localization to M-band
GO:0036371 protein localization to T-tubule
GO:0043268 positive regulation of potassium ion transport
GO:0050821 protein stabilization
GO:0051279 regulation of release of sequestered calcium ion into cytosol
GO:0051597 response to methylmercury
GO:0051924 regulation of calcium ion transport
GO:0051928 positive regulation of calcium ion transport
GO:0055117 regulation of cardiac muscle contraction
GO:0060048 cardiac muscle contraction
GO:0060307 regulation of ventricular cardiac muscle cell membrane repolarization
GO:0070296 sarcoplasmic reticulum calcium ion transport
GO:0070972 protein localization to endoplasmic reticulum
GO:0072659 protein localization to plasma membrane
GO:0072661 protein targeting to plasma membrane
GO:0086004 regulation of cardiac muscle cell contraction
GO:0086005 ventricular cardiac muscle cell action potential
GO:0086014 atrial cardiac muscle cell action potential
GO:0086015 SA node cell action potential
GO:0086036 regulation of cardiac muscle cell membrane potential
GO:0086046 membrane depolarization involved in regulation of SA node cell action potential
GO:0086066 atrial cardiac muscle cell to AV node cell communication
GO:0086070 SA node cell to atrial cardiac muscle cell communication
GO:0086091 regulation of heart rate by cardiac conduction
GO:1901018 positive regulation of potassium ion transmembrane transporter activity
GO:1901019 regulation of calcium ion transmembrane transporter activity
GO:1901021 positive regulation of calcium ion transmembrane transporter activity
GO:2001257 regulation of cation channel activity
GO:2001259 positive regulation of cation channel activity
Cellular Component
GO:0005622 intracellular
GO:0005737 cytoplasm
GO:0005829 cytosol
GO:0005856 cytoskeleton
GO:0005886 plasma membrane
GO:0005887 integral component of plasma membrane
GO:0014704 intercalated disc
GO:0016323 basolateral plasma membrane
GO:0016324 apical plasma membrane
GO:0030018 Z disc
GO:0030315 T-tubule
GO:0031430 M band
GO:0031672 A band
GO:0042383 sarcolemma
GO:0043005 neuron projection
GO:0043034 costamere
GO:0045121 membrane raft
GO:0045211 postsynaptic membrane
GO:0048471 perinuclear region of cytoplasm
Orthologs
No orthologs found for this gene
Pathways
NETPATH
REACTOME
Developmental Biology pathway
Interaction between L1 and Ankyrins pathway
Axon guidance pathway
L1CAM interactions pathway
KEGG
INOH
PID BIOCARTA
PID NCI
Cross-References
SwissProt
TrEMBL
UniProt Splice Variant
Entrez Gene
UniGene Hs.599220 Hs.620557 Hs.620813
RefSeq NM_001127493 NM_001148 NM_020977 XM_005262945 XM_006714192
HUGO
OMIM
CCDS CCDS3702 CCDS43261 CCDS54796
HPRD 00110
IMGT
EMBL
GenPept
RNA Seq Atlas