Tbio ANK2 Ankyrin-2

Protein Summary

Description

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). 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]

Uniprot Accession IDs

• Q01484
• Q01485
• Q08AC7
• Q08AC8
• Q7Z3L5
• ANK-2

Gene Name

• ANK2

Ensembl ID

• ENST00000357077
• ENSP00000349588
• ENSG00000145362
• ENST00000394537
• ENSP00000378044
• ENST00000506722
• ENSP00000421067
• ENST00000510275
• ENSP00000421023

Symbol

• ANKB
• LQT4
• ANK-2
• brank-2

Knowledge Table

Most Knowledge About	Knowledge Value (0 to 1 scale)
trait	1
biological process	0.98
hub protein	0.94
kinase	0.9
cellular component	0.89

Protein Classes

No PANTHER Classes or DTO Classes found

IDG Development Level Summary

Tdark

These are targets about which virtually nothing is known. They do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 211.34   (req: < 5)

Gene RIFs: 39   (req: <= 3)

Antibodies: 327   (req: <= 50)

Tbio

These targets do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 211.34   (req: >= 5)

Gene RIFs: 39   (req: > 3)

Antibodies: 327   (req: > 50)

- OR - satisfy the following criterion:

Gene Ontology Terms: 50

Tchem

Target has at least one ChEMBL compound with an activity cutoff of < 30 nM - AND - satisfies the preceding conditions

Active Ligand: 0

Tclin

Target has at least one approved drug - AND - satisfies the preceding conditions

Active Drug: 0

Protein Sequence and Structure

Residue Counts

Protein Sequence

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Expression Data (0 Tissues)

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No expression data found

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Target Illumination GWAS Analytics (TIGA)

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GENEVA

GENEVA (GENe Expression Variance Analysis) allows you to identify RNA-sequencing datasets from the Gene Expression Omnibus (GEO) that contain conditions modulating a gene or a gene signature.

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GlyGen

GlyGen is a data integration and dissemination project for carbohydrate and glycoconjugate related data.

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ARCHS4

ARCHS4 provides access to gene-function predictions based on RNA-seq co-expression, and gene expression levels across cell and tissues.

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Approved Drugs (0)

No approved drugs found

Active Ligands (0)

No active ligands found

Protein-Protein Interactions (257)

Explore Interacting Targets

1 – 10 of 257

• See Interactions on String-DB

PALM2

Tbio

Novelty:  0.03469098

p_int:  0.999996185

p_ni:  0.000003815

Score:  0.238

Data Source:  BioPlex,STRINGDB

RAPGEF5

Tbio

Novelty:  0.02449802

p_int:  0.999993677

p_ni:  0.000006321

p_wrong:  2e-9

Score:  0.269

Data Source:  BioPlex,STRINGDB

CHL1

Tbio

Novelty:  0.00055237

p_int:  0.999971248

p_ni:  0.000028752

Score:  0.64

Data Source:  BioPlex,STRINGDB

BTF3

Tbio

Novelty:  0.01198537

p_int:  0.999886681

p_ni:  0.000113318

p_wrong:  1e-9

Data Source:  BioPlex

PPP1R12B

Tbio

Family:  Enzyme

Novelty:  0.0424259

p_int:  0.999149744

p_ni:  0.000850018

p_wrong:  2.38e-7

Data Source:  BioPlex

MAPK8IP1

Tbio

Family:  Enzyme

Novelty:  0.00284875

p_int:  0.992460769

p_ni:  0.007539231

Score:  0.284

Data Source:  BioPlex,STRINGDB

NUFIP1

Tbio

Novelty:  0.11726869

p_int:  0.990265445

p_ni:  0.009734555

Data Source:  BioPlex

HIF1AN

Tbio

Novelty:  0.00861018

p_int:  0.964420245

p_ni:  0.035579754

Score:  0.235

Data Source:  BioPlex,STRINGDB

DNAAF2

Tbio

Novelty:  0.01254416

p_int:  0.951917758

p_ni:  0.048082242

Score:  0.161

Data Source:  BioPlex,STRINGDB

HAX1

Tbio

Novelty:  0.00749205

p_int:  0.871556191

p_ni:  0.128443809

Data Source:  BioPlex

Nearest Tclin Targets (2)

Explore Nearest Tclin Targets

Upstream (2)

1 – 2 of 2

ROCK2

Tclin

Family:  Kinase

KEGG Distance:  1

Common Pathways:  1

1: Proteoglycans in cancer

ROCK1

Tclin

Family:  Kinase

KEGG Distance:  1

Common Pathways:  1

1: Proteoglycans in cancer

Pathways (13)

Reactome (12)

KEGG (1)

Asparagine N-linked glycosylation (R-HSA-446203)

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5

1 – 5 of 12

Data Source	Name	Explore in Pharos	Explore in Source
Reactome	Asparagine N-linked glycosylation	286 targets	R-HSA-446203
Reactome	Axon guidance	533 targets	R-HSA-422475
Reactome	COPI-mediated anterograde transport	83 targets	R-HSA-6807878
Reactome	Developmental Biology	1055 targets	R-HSA-1266738
Reactome	ER to Golgi Anterograde Transport	136 targets	R-HSA-199977

Name	Explore in Pharos	Explore in Source
Asparagine N-linked glycosylation	286 targets	R-HSA-446203
Axon guidance	533 targets	R-HSA-422475
COPI-mediated anterograde transport	83 targets	R-HSA-6807878
Developmental Biology	1055 targets	R-HSA-1266738
ER to Golgi Anterograde Transport	136 targets	R-HSA-199977

Viral Interactions (0)

No viral interactions found

Gene Ontology Terms (70)

Functions (8)

Components (20)

Processes (42)

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1 – 8 of 8

GO Term	Evidence	Assigned by
enzyme binding	Inferred from Physical Interaction (IPI)	UniProtKB
ion channel binding	Inferred from Physical Interaction (IPI)	BHF-UCL
phosphorylation-dependent protein binding	Inferred from Physical Interaction (IPI)	UniProtKB
protein kinase binding	Inferred from Physical Interaction (IPI)	BHF-UCL
spectrin binding	Inferred from Physical Interaction (IPI)	BHF-UCL
ATPase binding	Inferred from Sequence or structural Similarity (ISS)	BHF-UCL
protein binding, bridging	Inferred from Sequence or structural Similarity (ISS)	BHF-UCL
structural constituent of cytoskeleton	Inferred from Electronic Annotation (IEA)	Ensembl

Disease Associations ()

No disease associations found

GWAS Traits (8)

• Explore on Target Illumination GWAS Analytics (TIGA)

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5

1 – 5 of 8

GWAS Trait	EFO ID	Study Count	SNP Count	Beta Count	Odds Ratio	Evidence (Mean Rank Score)	Provenance
testosterone measurement	EFO_0004908	2	2	2		83.9
nitric oxide exhalation measurement	EFO_0005536	1	1	1		56.8
Parkinson's disease	EFO_0002508	1	1	0	1.1	46.9
chronic lymphocytic leukemia	EFO_0000095	1	1	0	1.2	44.2
small vessel stroke	EFO_1001504	1	1	0	1.3	24.5

• Explore on Target Illumination GWAS Analytics (TIGA)

Items per page:

5

1 – 5 of 8

GWAS Trait	EFO ID	Beta Count	Odds Ratio	Evidence (Mean Rank Score)	Provenance
testosterone measurement	EFO_0004908	2		83.9
nitric oxide exhalation measurement	EFO_0005536	1		56.8
Parkinson's disease	EFO_0002508	0	1.1	46.9
chronic lymphocytic leukemia	EFO_0000095	0	1.2	44.2
small vessel stroke	EFO_1001504	0	1.3	24.5

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UniProt Keyword Find Similar Targets

No Header	No Header
3D-structure
Alternative splicing
ANK repeat
Cell junction
Cell membrane
Complete proteome
Cytoplasm
Cytoskeleton
Disease mutation
Endocytosis

GWAS Trait Find Similar Targets

No Header	No Header
alcohol consumption measurement
chronic lymphocytic leukemia
infant body height
neuroticism measurement
nitric oxide exhalation measurement
Parkinson's disease
small vessel stroke
testosterone measurement

MGI Phenotype Find Similar Targets

No Header	No Header
adipose tissue phenotype
behavior/neurological phenotype
cardiovascular system phenotype
cellular phenotype
endocrine/exocrine gland phenotype
growth/size/body region phenotype
homeostasis/metabolism phenotype
liver/biliary system phenotype
mortality/aging
muscle phenotype

IDG Resources

No IDG generated resources found

Orthologs (3)

1 – 3 of 3

Species	Name	Source ID	Gene ID	OMA	EggNOG	Inparanoid
Macaque	ankyrin 2		702180
Mouse	ankyrin 2, brain	MGI:88025	109676
Rat	ankyrin 2	RGD:620156	362036

Species	Name	OMA	EggNOG	Inparanoid
Macaque	ankyrin 2
Mouse	ankyrin 2, brain
Rat	ankyrin 2

Publication Statistics

PubMed Score 211.34

PubMed score by year

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PubTator Score 84.95

PubTator score by year

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Related Publications

Text Mined References (76)

GeneRif Annotations (39)

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10

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PMID	Year	Title