ACTN2

GENERAL INFORMATION

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Gene name

ACTN2

Gene description

Actinin, alpha 2

Protein class

Cytoskeleton related proteins
Disease related genes
Plasma proteins
Predicted intracellular proteins

Predicted localization

Intracellular

Number of transcripts

3
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HUMAN PROTEIN ATLAS INFORMATION

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RNA tissue category

HPA:Group enriched (heart muscle, skeletal muscle)
GTEx:Group enriched (heart muscle, skeletal muscle)

Protein evidence

Evidence at protein level

Protein localization

Ubiquitous cytoplasmic expression, most abundant in heart and skeletal muscle.

ANTIBODY RELIABILITY

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Data reliability
description

Antibody staining mainly not consistent with RNA expression data. Caution, targets protein from more than one gene.

Data reliability

Supportive based on 2 antibodies.
HPA006035 , HPA008315
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RNA AND PROTEIN EXPRESSION SUMMARY

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RNA expression (FPKM) Protein expression (score)
Brain
Endocrine tissues
Bone marrow & immune system
Muscle tissues
Lung
Liver & gallbladder
Pancreas
Gastrointestinal tract
Kidney & urinary bladder
Male tissues
Female tissues
Adipose & soft tissue
Skin
Cerebral cortex

Lymph node

Heart muscle

Liver

Colon

Kidney

Testis



PROTEIN EXPRESSION OVERVIEW

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Organ

Expression



RNA EXPRESSION OVERVIEW

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HPA dataset
RNA tissue category:  Group enriched (heart muscle, skeletal muscle)

Organ

Expression

GTEx dataset
RNA tissue category:  Group enriched (heart muscle, skeletal muscle)

Organ

Expression



GENE INFORMATION

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Gene name

ACTN2

Synonyms

Description

Actinin, alpha 2 (HGNC Symbol)

Entrez gene summary

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]

Chromosome

1

Cytoband

q43

Chromosome location (bp)

236686454 - 236764631

Protein evidence

Evidence at protein level (all genes)

Ensembl

ENSG00000077522 (version 78.38)

Entrez gene

88

UniProt

P35609 (UniProt - Evidence at protein level)

neXtProt

NX_P35609

Antibodypedia

ACTN2 antibodies


PROTEIN BROWSER

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ENST00000366578
 
ENST00000542672
 
ENST00000546208
 
 
 
 


PROTEIN INFORMATION

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Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

ACTN2-001 ENSP00000355537
ENST00000366578
P35609
Show all »
Show » Show » 894 103.9 No 0
ACTN2-201 ENSP00000443495
ENST00000542672
P35609
Show all »
Show » Show » 894 103.9 No 0
ACTN2-202 ENSP00000438384
ENST00000546208
B7Z4P8
Show all »
Show » Show » 686 79.7 No 0