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Reliability

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ACTN2
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    TISSUE

  • CELL

  • PATHOLOGY

TISSUE ATLAS PRIMARY DATA

GENE/PROTEIN

Antibody validation


Dictionary


Tissue proteome

GENERAL INFORMATION

Gene name

ACTN2

Gene description

Actinin, alpha 2

Protein class

Disease related genes
Plasma proteins
Predicted intracellular proteins

Predicted localization

Intracellular

Number of transcripts

3
SHOW MORE

HUMAN PROTEIN ATLAS INFORMATION

RNA tissue category

HPA:Group enriched (heart muscle, skeletal muscle)
GTEx:Group enriched (heart muscle, skeletal muscle)
FANTOM5:Group enriched (heart muscle, skeletal muscle)

Protein evidence

Evidence at protein level

Protein expression

Cytoplasmic expression in striated muscle and brain.

DATA RELIABILITY

Data reliability
description

Antibody staining mainly consistent with RNA expression data. Caution, targets protein from more than one gene.

Reliability score

Supported based on 2 antibodies.
HPA006035 , HPA008315
SHOW MORE

RNA AND PROTEIN EXPRESSION SUMMARY

RNA expression (TPM) Protein expression (score)
Brain
Cerebral cortex
Hippocampus
N/A
Caudate
N/A
Cerebellum
N/A
Endocrine tissues
Thyroid gland
Parathyroid gland
Adrenal gland
Bone marrow & immune system
Appendix
Bone marrow
Lymph node
Tonsil
Spleen
Muscle tissues
Heart muscle
Skeletal muscle
Smooth muscle
Lung
Nasopharynx
N/A
Bronchus
N/A
Lung
N/A
Liver & gallbladder
Liver
Gallbladder
Pancreas
Pancreas
Gastrointestinal tract
Oral mucosa
N/A
Salivary gland
Esophagus
Stomach
Duodenum
Small intestine
Colon
Rectum
Kidney & urinary bladder
Kidney
Urinary bladder
Male tissues
Testis
Epididymis
Prostate
Seminal vesicle
Female tissues
Breast
Vagina
N/A
Cervix, uterine
Endometrium
Fallopian tube
Ovary
Placenta
Adipose & soft tissue
Adipose tissue
Soft tissue
N/A
Skin
Skin
Cerebral cortex

Lymph node

Skeletal muscle

Liver

Colon

Kidney

Testis

PROTEIN EXPRESSION OVERVIEW

Organ
Expression
Alphabetical

RNA EXPRESSION OVERVIEW

HPA dataset
Organ
Expression
Alphabetical
RNA tissue category: Group enriched (heart muscle, skeletal muscle)
GTEx dataset
Organ
Expression
Alphabetical
RNA tissue category: Group enriched (heart muscle, skeletal muscle)
FANTOM5 dataset
Organ
Expression
Alphabetical
RNA tissue category: Group enriched (heart muscle, skeletal muscle)

GENE INFORMATION

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 83.38)

Entrez gene

88

UniProt

P35609 (UniProt - Evidence at protein level)

neXtProt

NX_P35609

Antibodypedia

ACTN2 antibodies

PROTEIN BROWSER

ACTN2-001
ACTN2-201
ACTN2-202

PROTEIN INFORMATION

Splice variant

UniProt

Protein class

Gene ontology

Length & mass

Signal peptide
(predicted)

Transmembrane regions
(predicted)

ACTN2-001
ENSP00000355537
ENST00000366578
P35609 [Direct mapping]
Alpha-actinin-2
Show all
   THUMBUP predicted membrane proteins
Predicted intracellular proteins
Plasma proteins
Disease related genes
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000165 [MAPK cascade]
GO:0000186 [activation of MAPKK activity]
GO:0002576 [platelet degranulation]
GO:0005178 [integrin binding]
GO:0005509 [calcium ion binding]
GO:0005515 [protein binding]
GO:0005546 [phosphatidylinositol-4,5-bisphosphate binding]
GO:0005576 [extracellular region]
GO:0005829 [cytosol]
GO:0005856 [cytoskeleton]
GO:0005884 [actin filament]
GO:0005886 [plasma membrane]
GO:0005925 [focal adhesion]
GO:0007155 [cell adhesion]
GO:0007173 [epidermal growth factor receptor signaling pathway]
GO:0007264 [small GTPase mediated signal transduction]
GO:0007265 [Ras protein signal transduction]
GO:0007268 [synaptic transmission]
GO:0007411 [axon guidance]
GO:0007596 [blood coagulation]
GO:0008092 [cytoskeletal protein binding]
GO:0008286 [insulin receptor signaling pathway]
GO:0008307 [structural constituent of muscle]
GO:0008543 [fibroblast growth factor receptor signaling pathway]
GO:0019904 [protein domain specific binding]
GO:0030018 [Z disc]
GO:0030035 [microspike assembly]
GO:0030049 [muscle filament sliding]
GO:0030168 [platelet activation]
GO:0030175 [filopodium]
GO:0031093 [platelet alpha granule lumen]
GO:0031143 [pseudopodium]
GO:0031432 [titin binding]
GO:0038095 [Fc-epsilon receptor signaling pathway]
GO:0042391 [regulation of membrane potential]
GO:0042802 [identical protein binding]
GO:0042803 [protein homodimerization activity]
GO:0042981 [regulation of apoptotic process]
GO:0043197 [dendritic spine]
GO:0043267 [negative regulation of potassium ion transport]
GO:0043268 [positive regulation of potassium ion transport]
GO:0044325 [ion channel binding]
GO:0045087 [innate immune response]
GO:0045214 [sarcomere organization]
GO:0046983 [protein dimerization activity]
GO:0048010 [vascular endothelial growth factor receptor signaling pathway]
GO:0048011 [neurotrophin TRK receptor signaling pathway]
GO:0048041 [focal adhesion assembly]
GO:0051289 [protein homotetramerization]
GO:0051373 [FATZ binding]
GO:0051695 [actin filament uncapping]
GO:0070062 [extracellular exosome]
GO:0070080 [titin Z domain binding]
GO:0086097 [phospholipase C-activating angiotensin-activated signaling pathway]
GO:0090002 [establishment of protein localization to plasma membrane]
GO:1901017 [negative regulation of potassium ion transmembrane transporter activity]
GO:1901018 [positive regulation of potassium ion transmembrane transporter activity]
GO:2000009 [negative regulation of protein localization to cell surface]
GO:2001137 [positive regulation of endocytic recycling]
GO:2001259 [positive regulation of cation channel activity]
Show all
894 aa
103.9 kDa
No 0
ACTN2-201
ENSP00000443495
ENST00000542672
P35609 [Direct mapping]
Alpha-actinin-2
Show all
   MEMSAT3 predicted membrane proteins
   THUMBUP predicted membrane proteins
Predicted intracellular proteins
Plasma proteins
Disease related genes
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000165 [MAPK cascade]
GO:0000186 [activation of MAPKK activity]
GO:0002576 [platelet degranulation]
GO:0005178 [integrin binding]
GO:0005509 [calcium ion binding]
GO:0005515 [protein binding]
GO:0005546 [phosphatidylinositol-4,5-bisphosphate binding]
GO:0005576 [extracellular region]
GO:0005829 [cytosol]
GO:0005856 [cytoskeleton]
GO:0005884 [actin filament]
GO:0005886 [plasma membrane]
GO:0005925 [focal adhesion]
GO:0006936 [muscle contraction]
GO:0007155 [cell adhesion]
GO:0007173 [epidermal growth factor receptor signaling pathway]
GO:0007264 [small GTPase mediated signal transduction]
GO:0007265 [Ras protein signal transduction]
GO:0007268 [synaptic transmission]
GO:0007411 [axon guidance]
GO:0007596 [blood coagulation]
GO:0008092 [cytoskeletal protein binding]
GO:0008286 [insulin receptor signaling pathway]
GO:0008307 [structural constituent of muscle]
GO:0008543 [fibroblast growth factor receptor signaling pathway]
GO:0019904 [protein domain specific binding]
GO:0030017 [sarcomere]
GO:0030018 [Z disc]
GO:0030035 [microspike assembly]
GO:0030049 [muscle filament sliding]
GO:0030168 [platelet activation]
GO:0030175 [filopodium]
GO:0030274 [LIM domain binding]
GO:0030374 [ligand-dependent nuclear receptor transcription coactivator activity]
GO:0030375 [thyroid hormone receptor coactivator activity]
GO:0030864 [cortical actin cytoskeleton]
GO:0031093 [platelet alpha granule lumen]
GO:0031143 [pseudopodium]
GO:0031432 [titin binding]
GO:0038095 [Fc-epsilon receptor signaling pathway]
GO:0042391 [regulation of membrane potential]
GO:0042802 [identical protein binding]
GO:0042803 [protein homodimerization activity]
GO:0042981 [regulation of apoptotic process]
GO:0043197 [dendritic spine]
GO:0043267 [negative regulation of potassium ion transport]
GO:0043268 [positive regulation of potassium ion transport]
GO:0044325 [ion channel binding]
GO:0045087 [innate immune response]
GO:0045214 [sarcomere organization]
GO:0046983 [protein dimerization activity]
GO:0048010 [vascular endothelial growth factor receptor signaling pathway]
GO:0048011 [neurotrophin TRK receptor signaling pathway]
GO:0048041 [focal adhesion assembly]
GO:0051289 [protein homotetramerization]
GO:0051373 [FATZ binding]
GO:0051695 [actin filament uncapping]
GO:0055013 [cardiac muscle cell development]
GO:0070062 [extracellular exosome]
GO:0070080 [titin Z domain binding]
GO:0086097 [phospholipase C-activating angiotensin-activated signaling pathway]
GO:0090002 [establishment of protein localization to plasma membrane]
GO:1901017 [negative regulation of potassium ion transmembrane transporter activity]
GO:1901018 [positive regulation of potassium ion transmembrane transporter activity]
GO:1903506 [regulation of nucleic acid-templated transcription]
GO:2000009 [negative regulation of protein localization to cell surface]
GO:2000273 [positive regulation of receptor activity]
GO:2001137 [positive regulation of endocytic recycling]
GO:2001259 [positive regulation of cation channel activity]
Show all
894 aa
103.9 kDa
No 0
ACTN2-202
ENSP00000438384
ENST00000546208
F6THM6 [Direct mapping]
Alpha-actinin-2
Show all
Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0005509 [calcium ion binding]
GO:0005515 [protein binding]
Show all
686 aa
79.7 kDa
No 0

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The Human Protein Atlas project is funded
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