Tbio ANK3 Ankyrin-3

Protein Summary

Description

In skeletal muscle, required for costamere localization of DMD and betaDAG1 (By similarity). Membrane-cytoskeleton linker. May participate in the maintenance/targeting of ion channels and cell adhesion molecules at the nodes of Ranvier and axonal initial segments. Regulates KCNA1 channel activity in function of dietary Mg(2+) levels, and thereby contributes to the regulation of renal Mg(2+) reabsorption (PubMed:23903368). Isoform 5: May be part of a Golgi-specific membrane cytoskeleton in association with beta-spectrin. Ankyrins are a family of proteins that are believed to link the integral membrane proteins to the underlying spectrin-actin cytoskeleton and play key roles in activities such as cell motility, activation, proliferation, contact, and the maintenance of specialized membrane domains. Multiple isoforms of ankyrin with different affinities for various target proteins are expressed in a tissue-specific, developmentally regulated manner. 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. Ankyrin 3 is an immunologically distinct gene product from ankyrins 1 and 2, and was originally found at the axonal initial segment and nodes of Ranvier of neurons in the central and peripheral nervous systems. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Feb 2011]

Uniprot Accession IDs

• Q12955
• B1AQT2
• B4DIL1
• E9PE32
• Q13484
• Q5CZH9
• Q5VXD5
• Q7Z3G4
• Q9H0P5
• ANK-3

Gene Name

• ANK3

Ensembl ID

• ENST00000280772
• ENSP00000280772
• ENSG00000151150
• ENST00000355288
• ENSP00000347436
• ENST00000373827
• ENSP00000362933
• ENST00000503366
• ENSP00000425236

Symbol

• MRT37
• ANKYRIN-G

Knowledge Table

Most Knowledge About	Knowledge Value (0 to 1 scale)
transcription factor perturbation	1
biological process	0.97
trait	0.97
microRNA	0.95
disease perturbation	0.93

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: 236.05   (req: < 5)

Gene RIFs: 71   (req: <= 3)

Antibodies: 245   (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: 236.05   (req: >= 5)

Gene RIFs: 71   (req: > 3)

Antibodies: 245   (req: > 50)

- OR - satisfy the following criterion:

Gene Ontology Terms: 33

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

Related Tools

Target Illumination GWAS Analytics (TIGA)

TIGA scores and ranks GWAS discovered associations according to the quantity and quality of the evidence supporting the association.

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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 (219)

Explore Interacting Targets

1 – 10 of 219

• See Interactions on String-DB

RAPGEF5

Tbio

Novelty:  0.02449802

p_int:  0.999999985

p_ni:  1.5e-8

Score:  0.218

Data Source:  BioPlex,STRINGDB

PALM2

Tbio

Novelty:  0.03469098

p_int:  0.999999789

p_ni:  2.11e-7

Score:  0.226

Data Source:  BioPlex,STRINGDB

BTF3

Tbio

Novelty:  0.01198537

p_int:  0.99999898

p_ni:  0.00000102

Data Source:  BioPlex

CHL1

Tbio

Novelty:  0.00055237

p_int:  0.99999857

p_ni:  0.00000143

Score:  0.612

Data Source:  BioPlex,STRINGDB

PPP1R12B

Tbio

Family:  Enzyme

Novelty:  0.0424259

p_int:  0.999997804

p_ni:  0.000002196

Data Source:  BioPlex

MAPK8IP1

Tbio

Family:  Enzyme

Novelty:  0.00284875

p_int:  0.999997159

p_ni:  0.000002841

Score:  0.223

Data Source:  BioPlex,STRINGDB

FEZ1

Tbio

Novelty:  0.02695814

p_int:  0.999993726

p_ni:  0.000006274

Score:  0.203

Data Source:  BioPlex,STRINGDB

HIF1AN

Tbio

Novelty:  0.00861018

p_int:  0.999944311

p_ni:  0.000055689

Score:  0.239

Data Source:  BioPlex,STRINGDB

UXS1

Tbio

Family:  Enzyme

Novelty:  0.04671281

p_int:  0.999783239

p_ni:  0.000216761

Score:  0.156

Data Source:  BioPlex,STRINGDB

PWP1

Tbio

Novelty:  0.07040539

p_int:  0.99906317

p_ni:  0.00093683

Score:  0.255

Data Source:  BioPlex,STRINGDB

Nearest Tclin Targets (2)

Explore Nearest Tclin Targets

Upstream (2)

1 – 2 of 2

ROCK1

Tclin

Family:  Kinase

KEGG Distance:  1

Common Pathways:  1

1: Proteoglycans in cancer

ROCK2

Tclin

Family:  Kinase

KEGG Distance:  1

Common Pathways:  1

1: Proteoglycans in cancer

Pathways (14)

Reactome (12)

KEGG (1)

WikiPathways (1)

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

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Items per page:

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 (56)

Functions (6)

Components (23)

Processes (27)

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1 – 6 of 6

GO Term	Evidence	Assigned by
structural constituent of cytoskeleton	Inferred from Mutant Phenotype (IMP)	BHF-UCL
cadherin binding	Inferred from Sequence or structural Similarity (ISS)	BHF-UCL
cytoskeletal protein binding	Inferred from Sequence or structural Similarity (ISS)	BHF-UCL
ion channel binding	Inferred from Sequence or structural Similarity (ISS)	BHF-UCL
protein binding, bridging	Inferred from Sequence or structural Similarity (ISS)	BHF-UCL
spectrin binding	Inferred from Sequence or structural Similarity (ISS)	BHF-UCL

Disease Associations ()

No disease associations found

GWAS Traits (17)

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5

1 – 5 of 17

GWAS Trait	EFO ID	Study Count	SNP Count	Beta Count	Odds Ratio	Evidence (Mean Rank Score)	Provenance
bipolar disorder	EFO_0000289	5	5	0	1.2	65.7
diastolic blood pressure	EFO_0006336	1	1	1		50.6
biological sex	PATO_0000047	1	1	1		48.5
body height	EFO_0004339	1	1	1		47.7
waist-hip ratio	EFO_0004343	1	1	1		39.6

• Explore on Target Illumination GWAS Analytics (TIGA)

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5

1 – 5 of 17

GWAS Trait	EFO ID	Beta Count	Odds Ratio	Evidence (Mean Rank Score)	Provenance
bipolar disorder	EFO_0000289	0	1.2	65.7
diastolic blood pressure	EFO_0006336	1		50.6
biological sex	PATO_0000047	1		48.5
body height	EFO_0004339	1		47.7
waist-hip ratio	EFO_0004343	1		39.6

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Find similar targets by:

UniProt Keyword Find Similar Targets

No Header	No Header
3D-structure
Alternative splicing
ANK repeat
Autism spectrum disorder
Cell junction
Cell membrane
Cell projection
Complete proteome
Cytoplasm
Cytoskeleton

GWAS Trait Find Similar Targets

No Header	No Header
attention deficit hyperactivity disorder
autism spectrum disorder
biological sex
bipolar disorder
bipolar I disorder
body height
body mass index
C-reactive protein measurement
diastolic blood pressure
frailty measurement

MGI Phenotype Find Similar Targets

No Header	No Header
behavior/neurological phenotype
mortality/aging
nervous system phenotype
renal/urinary system phenotype
respiratory system phenotype

IDG Resources

No IDG generated resources found

Orthologs (11)

1 – 5 of 11

Species	Name	Source ID	Gene ID	OMA	EggNOG	Inparanoid
Chimp	ankyrin 3	VGNC:14318	450478
Macaque	ankyrin 3		699518
Mouse	ankyrin 3, epithelial	MGI:88026	11735
Dog	ankyrin 3	VGNC:37867	479215
Cow	ankyrin 3, node of Ranvier (ankyrin G)		511203

Species	Name	OMA	EggNOG	Inparanoid
Chimp	ankyrin 3
Macaque	ankyrin 3
Mouse	ankyrin 3, epithelial
Dog	ankyrin 3
Cow	ankyrin 3, node of Ranvier (ankyrin G)

Publication Statistics

PubMed Score 236.05

PubMed score by year

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PubTator Score 125.96

PubTator score by year

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Related Publications

Text Mined References (98)

GeneRif Annotations (71)

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10

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PMID	Year	Title