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ACTN4

GENERAL INFORMATION

Gene name

 ACTN4

Gene description

 Actinin, alpha 4

Protein class

 Disease related genes
Plasma proteins
Predicted intracellular proteins

Predicted localization

 Intracellular

Number of transcripts

 6
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HUMAN PROTEIN ATLAS INFORMATION

RNA tissue category
HPA:Expressed in all
GTEx:Expressed in all
FANTOM5:Expressed in all

Protein evidence

 Evidence at protein level

Protein expression

 Ubiquitous cytoplasmic expression in essentially all tissue types.

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.
HPA001873 , HPA006035
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RNA AND PROTEIN EXPRESSION SUMMARY
RNA expression (TPM) Protein expression (score)
Brain
Caudate
N/A
Endocrine tissues
Bone marrow & immune system
Muscle tissues
Lung
Bronchus
N/A
Liver & gallbladder
Pancreas
Gastrointestinal tract
Kidney & urinary bladder
Male tissues
Female tissues
Vagina
N/A
Adipose & soft tissue
Skin
Cerebral cortex

Lymph node

Liver

Colon

Kidney

Testis

PROTEIN EXPRESSION OVERVIEW
Organ
Expression
Alphabetical

RNA EXPRESSION OVERVIEW
HPA dataset
Organ
Expression
Alphabetical
RNA tissue category: Expressed in all
GTEx dataset
Organ
Expression
Alphabetical
RNA tissue category: Expressed in all
FANTOM5 dataset
Organ
Expression
Alphabetical
RNA tissue category: Expressed in all

GENE INFORMATION

Gene name

 ACTN4 (HGNC Symbol)

Synonyms

 FSGS1

Description

 Actinin, alpha 4 (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 nonmuscle, alpha actinin isoform which is concentrated in the cytoplasm, and thought to be involved in metastatic processes. Mutations in this gene have been associated with focal and segmental glomerulosclerosis. [provided by RefSeq, Jul 2008]

Chromosome

 19

Cytoband

 q13.2

Chromosome location (bp)

 38647649 - 38731583

Protein evidence

 Evidence at protein level (all genes)

Ensembl

 ENSG00000130402 (version 83.38)

Entrez gene

 81

UniProt

 O43707 (UniProt - Evidence at protein level)

neXtProt

 NX_O43707

Antibodypedia

 ACTN4 antibodies

PROTEIN BROWSER
ACTN4-001
ACTN4-004
ACTN4-010
ACTN4-012
ACTN4-013
ACTN4-201

PROTEIN INFORMATION

Splice variant

UniProt

Protein class

Gene ontology

Length & mass

Signal peptide
(predicted)

Transmembrane regions
(predicted)
ACTN4-001
ENSP00000252699
ENST00000252699
O43707 [Direct mapping]
Alpha-actinin-4
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   MEMSAT3 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:0000977 [RNA polymerase II regulatory region sequence-specific DNA binding]
GO:0001666 [response to hypoxia]
GO:0001725 [stress fiber]
GO:0001882 [nucleoside binding]
GO:0002576 [platelet degranulation]
GO:0003779 [actin binding]
GO:0005178 [integrin binding]
GO:0005509 [calcium ion binding]
GO:0005515 [protein binding]
GO:0005576 [extracellular region]
GO:0005615 [extracellular space]
GO:0005622 [intracellular]
GO:0005634 [nucleus]
GO:0005737 [cytoplasm]
GO:0005903 [brush border]
GO:0005911 [cell-cell junction]
GO:0005925 [focal adhesion]
GO:0007596 [blood coagulation]
GO:0015031 [protein transport]
GO:0015629 [actin cytoskeleton]
GO:0030018 [Z disc]
GO:0030050 [vesicle transport along actin filament]
GO:0030168 [platelet activation]
GO:0030335 [positive regulation of cell migration]
GO:0030374 [ligand-dependent nuclear receptor transcription coactivator activity]
GO:0030529 [ribonucleoprotein complex]
GO:0030863 [cortical cytoskeleton]
GO:0031093 [platelet alpha granule lumen]
GO:0031143 [pseudopodium]
GO:0031490 [chromatin DNA binding]
GO:0032403 [protein complex binding]
GO:0032417 [positive regulation of sodium:proton antiporter activity]
GO:0035257 [nuclear hormone receptor binding]
GO:0035357 [peroxisome proliferator activated receptor signaling pathway]
GO:0042803 [protein homodimerization activity]
GO:0042974 [retinoic acid receptor binding]
GO:0042981 [regulation of apoptotic process]
GO:0043005 [neuron projection]
GO:0043234 [protein complex]
GO:0044325 [ion channel binding]
GO:0044822 [poly(A) RNA binding]
GO:0047485 [protein N-terminus binding]
GO:0048384 [retinoic acid receptor signaling pathway]
GO:0048471 [perinuclear region of cytoplasm]
GO:0048549 [positive regulation of pinocytosis]
GO:0051015 [actin filament binding]
GO:0051017 [actin filament bundle assembly]
GO:0051271 [negative regulation of cellular component movement]
GO:0051272 [positive regulation of cellular component movement]
GO:0070062 [extracellular exosome]
GO:1900025 [negative regulation of substrate adhesion-dependent cell spreading]
GO:1901224 [positive regulation of NIK/NF-kappaB signaling]
GO:1903506 [regulation of nucleic acid-templated transcription]
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 911 aa
104.9 kDa 		No 0
ACTN4-004
ENSP00000398393
ENST00000440400
H7C144 [Direct mapping]
Alpha-actinin-4
Show all
Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0005509 [calcium ion binding]
GO:0005515 [protein binding]
GO:0051015 [actin filament binding]
GO:0070830 [bicellular tight junction assembly]
GO:1902396 [protein localization to bicellular tight junction]
Show all
 342 aa
39 kDa 		No 0
ACTN4-010
ENSP00000439497
ENST00000390009
O43707 [Direct mapping]
Alpha-actinin-4
Show all
Predicted intracellular proteins
Plasma proteins
Disease related genes
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000977 [RNA polymerase II regulatory region sequence-specific DNA binding]
GO:0001882 [nucleoside binding]
GO:0002576 [platelet degranulation]
GO:0003779 [actin binding]
GO:0005178 [integrin binding]
GO:0005509 [calcium ion binding]
GO:0005515 [protein binding]
GO:0005576 [extracellular region]
GO:0005615 [extracellular space]
GO:0005622 [intracellular]
GO:0005634 [nucleus]
GO:0005737 [cytoplasm]
GO:0005925 [focal adhesion]
GO:0007596 [blood coagulation]
GO:0015031 [protein transport]
GO:0015629 [actin cytoskeleton]
GO:0030050 [vesicle transport along actin filament]
GO:0030168 [platelet activation]
GO:0030335 [positive regulation of cell migration]
GO:0030374 [ligand-dependent nuclear receptor transcription coactivator activity]
GO:0030529 [ribonucleoprotein complex]
GO:0031093 [platelet alpha granule lumen]
GO:0031143 [pseudopodium]
GO:0031490 [chromatin DNA binding]
GO:0032417 [positive regulation of sodium:proton antiporter activity]
GO:0035257 [nuclear hormone receptor binding]
GO:0035357 [peroxisome proliferator activated receptor signaling pathway]
GO:0042803 [protein homodimerization activity]
GO:0042974 [retinoic acid receptor binding]
GO:0042981 [regulation of apoptotic process]
GO:0043234 [protein complex]
GO:0044325 [ion channel binding]
GO:0044822 [poly(A) RNA binding]
GO:0048384 [retinoic acid receptor signaling pathway]
GO:0048471 [perinuclear region of cytoplasm]
GO:0051015 [actin filament binding]
GO:0051272 [positive regulation of cellular component movement]
GO:0070062 [extracellular exosome]
GO:1900025 [negative regulation of substrate adhesion-dependent cell spreading]
GO:1901224 [positive regulation of NIK/NF-kappaB signaling]
GO:1903506 [regulation of nucleic acid-templated transcription]
Show all
 692 aa
79.9 kDa 		No 0
ACTN4-012
ENSP00000465176
ENST00000586538
K7EJH8 [Direct mapping]
Alpha-actinin-4
Show all
Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0005515 [protein binding]
GO:0051015 [actin filament binding]
GO:0070830 [bicellular tight junction assembly]
GO:1902396 [protein localization to bicellular tight junction]
Show all
 182 aa
21.4 kDa 		No 0
ACTN4-013
ENSP00000467190
ENST00000589528
K7EP19 [Direct mapping]
Alpha-actinin-4
Show all
Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0005515 [protein binding]
GO:0051015 [actin filament binding]
GO:0070830 [bicellular tight junction assembly]
GO:1902396 [protein localization to bicellular tight junction]
Show all
 105 aa
11.5 kDa 		No 0
ACTN4-201
ENSP00000411187
ENST00000424234
F5GXS2 [Direct mapping]
Alpha-actinin-4
Show all
Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0005509 [calcium ion binding]
GO:0005515 [protein binding]
GO:0051015 [actin filament binding]
GO:0070830 [bicellular tight junction assembly]
GO:1902396 [protein localization to bicellular tight junction]
Show all
 521 aa
59.6 kDa 		No 0

Contact

The Project

The Human Protein Atlas

The Human Protein Atlas project is funded
by the Knut & Alice Wallenberg foundation.