Tbio ACTN2 Alpha-actinin-2

Protein Summary

Description

F-actin cross-linking protein which is thought to anchor actin to a variety of intracellular structures. This is a bundling protein. Alpha actinins belong to the spectrin gene superfamily which represents a diverse group of cytoskeletal proteins, including the alpha and beta spectrins and dystrophins. Alpha actinin is an actin-binding protein with multiple roles in different cell types. In nonmuscle cells, the cytoskeletal isoform is found along microfilament bundles and adherens-type junctions, where it is involved in binding actin to the membrane. In contrast, skeletal, cardiac, and smooth muscle isoforms are localized to the Z-disc and analogous dense bodies, where they help anchor the myofibrillar actin filaments. This gene encodes a muscle-specific, alpha actinin isoform that is expressed in both skeletal and cardiac muscles. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2013]

Uniprot Accession IDs

• P35609
• B1ANE4
• B2RCS5
• Q86TF4
• Q86TI8

Gene Name

• ACTN2

Ensembl ID

• ENST00000366578
• ENSP00000355537
• ENSG00000077522
• ENST00000542672
• ENSP00000443495

Symbol

• CMH23
• CMD1AA

Knowledge Table

Most Knowledge About	Knowledge Value (0 to 1 scale)
molecular function	0.97
protein domain	0.92
biological process	0.84
interacting protein	0.81
hub protein	0.75

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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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: 138.22   (req: < 5)

Gene RIFs: 22   (req: <= 3)

Antibodies: 342   (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: 138.22   (req: >= 5)

Gene RIFs: 22   (req: > 3)

Antibodies: 342   (req: > 50)

- OR - satisfy the following criterion:

Gene Ontology Terms: 38

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

GWAS Traits (2)

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GWAS Trait	EFO ID	Study Count	SNP Count	Beta Count	Odds Ratio	Evidence (Mean Rank Score)	Provenance
smoking status measurement	EFO_0006527	2	1	2		86.6
smoking initiation	EFO_0005670	1	1	1		59.5

• Explore on Target Illumination GWAS Analytics (TIGA)

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GWAS Trait	EFO ID	Beta Count	Odds Ratio	Evidence (Mean Rank Score)	Provenance
smoking status measurement	EFO_0006527	2		86.6
smoking initiation	EFO_0005670	1		59.5

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Orthologs (12)

1 – 5 of 12

Species	Name	Source ID	Gene ID	OMA	EggNOG	Inparanoid
Chimp	actinin alpha 2	VGNC:31	469156
Macaque	actinin alpha 2		710012
Mouse	actinin alpha 2	MGI:109192	11472
Rat	actinin alpha 2	RGD:1308097	291245
Dog	actinin alpha 2	VGNC:37549	479191

Species	Name	OMA	EggNOG	Inparanoid
Chimp	actinin alpha 2
Macaque	actinin alpha 2
Mouse	actinin alpha 2
Rat	actinin alpha 2
Dog	actinin alpha 2

Protein Structure (8 Structures, 1 AlphaFold Model)

Representation

  axes   backbone   ball+stick   cartoon   rocket   rope   spacefill

Color Scheme

  target   atomindex   bfactor   chainname   electrostatic   element   hydrophobicity   resname   sstruc

Click on a row in the table to change the structure displayed.
More information can be found at RCSB PDB

AF-P35609-F1-model_v1

AlphaFold Structures Developed by DeepMind and EMBL-EBI

1 – 5 of 8

PDB Structure Id	Ligand	Method	Resolution (Å)	Residues	Fraction of Total Protein	Pub Year	Title

PDB Structure Id	Fraction of Total Protein	Resolution	Pub Year

Pathways (34)

Reactome (28)

KEGG (1)

PathwayCommons (2)

WikiPathways (3)

Activation of NMDA receptors and postsynaptic events (R-HSA-442755)

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Data Source	Name	Explore in Pharos	Explore in Source
Reactome	Activation of NMDA receptors and postsynaptic events	74 targets	R-HSA-442755
Reactome	Assembly and cell surface presentation of NMDA receptors	24 targets	R-HSA-9609736
Reactome	CREB1 phosphorylation through NMDA receptor-mediated activation of RAS signaling	28 targets	R-HSA-442742
Reactome	Cell-Cell communication	121 targets	R-HSA-1500931
Reactome	Cytokine Signaling in Immune system	922 targets	R-HSA-1280215

Name	Explore in Pharos	Explore in Source
Activation of NMDA receptors and postsynaptic events	74 targets	R-HSA-442755
Assembly and cell surface presentation of NMDA receptors	24 targets	R-HSA-9609736
CREB1 phosphorylation through NMDA receptor-mediated activation of RAS signaling	28 targets	R-HSA-442742
Cell-Cell communication	121 targets	R-HSA-1500931
Cytokine Signaling in Immune system	922 targets	R-HSA-1280215

Gene Ontology Terms (53)

Functions (17)

Components (15)

Processes (21)

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GO Term	Evidence	Assigned by
cytoskeletal protein binding	Inferred from Direct Assay (IDA)	UniProtKB
FATZ binding	Inferred from Direct Assay (IDA)	UniProtKB
phosphatidylinositol-4,5-bisphosphate binding	Inferred from Direct Assay (IDA)	UniProtKB
protein dimerization activity	Inferred from Direct Assay (IDA)	UniProtKB
identical protein binding	Inferred from Physical Interaction (IPI)	IntAct
ion channel binding	Inferred from Physical Interaction (IPI)	UniProtKB
protein domain specific binding	Inferred from Physical Interaction (IPI)	UniProtKB
titin binding	Inferred from Physical Interaction (IPI)	BHF-UCL
protein homodimerization activity	Inferred from Mutant Phenotype (IMP)	UniProtKB
titin Z domain binding	Inferred from Mutant Phenotype (IMP)	UniProtKB

Protein-Protein Interactions (290)

Explore Interacting Targets

1 – 10 of 290

• See Interactions on String-DB

PDLIM1

Tbio

Novelty: 0.02703639

p_int: 0.963818161

p_ni: 0.036181839

Score: 0.806

Data Source: BioPlex,STRINGDB

ACTN4

Tbio

Novelty: 0.0040236

Score: 0.998

Data Source: STRINGDB

ACTN1

Tbio

Novelty: 0.00654004

Score: 0.998

Data Source: STRINGDB

MYH6

Tbio

Novelty: 0.00058671

Score: 0.997

Data Source: STRINGDB

MYH3

Tbio

Novelty: 0.00544794

Score: 0.996

Data Source: STRINGDB

TPM2

Tbio

Novelty: 0.00406572

Score: 0.995

Data Source: STRINGDB

TPM1

Tbio

Novelty: 0.00261206

Score: 0.995

Data Source: STRINGDB

TNNI1

Tbio

Novelty: 0.01639536

Score: 0.994

Data Source: STRINGDB

VCL

Tbio

Novelty: 0.00043107

Score: 0.992

Data Source: STRINGDB

MYH8

Tbio

Novelty: 0.01020559

Score: 0.991

Data Source: STRINGDB

Publication Statistics

PubMed Score  138.22

PubMed score by year

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PubTator Score  44.65

PubTator score by year

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Amino Acid Sequence

Residue Counts

Protein Sequence

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Find similar targets by:

UniProt Keyword Find Similar Targets

3D-structure
Actin-binding
Alternative splicing
Calcium
Cardiomyopathy
Complete proteome
Cytoplasm
Disease mutation
Metal-binding
Phosphoprotein

GWAS Trait Find Similar Targets

smoking initiation
smoking status measurement