ACTN4

GENERAL INFORMATION

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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

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RNA tissue category

HPA:Expressed in all
GTEx:Expressed in all

Protein evidence

Evidence at protein level

Protein localization

Ubiquitous cytoplasmic expression in essentially all tissue types.

ANTIBODY RELIABILITY

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Data reliability
description

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

Data reliability

Supportive based on 2 antibodies.
HPA001873 , HPA006035
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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

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:  Expressed in all

Organ

Expression

GTEx dataset
RNA tissue category:  Expressed in all

Organ

Expression



GENE INFORMATION

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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 78.38)

Entrez gene

81

UniProt

O43707 (UniProt - Evidence at protein level)

neXtProt

NX_O43707

Antibodypedia

ACTN4 antibodies


PROTEIN BROWSER

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ENST00000252699
 
ENST00000390009
 
ENST00000424234
 
ENST00000440400
 
ENST00000586538
 
ENST00000589528
 
 
 
 


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)

ACTN4-001 ENSP00000252699
ENST00000252699
O43707
Show all »
Show » Show » 911 104.9 No 0
ACTN4-004 ENSP00000398393
ENST00000440400
H7C144
Show all »
Show » Show » 342 39 No 0
ACTN4-010 ENSP00000439497
ENST00000390009
O43707
Show all »
Show » Show » 692 79.9 No 0
ACTN4-012 ENSP00000465176
ENST00000586538
K7EJH8
Show all »
Show » Show » 182 21.4 No 0
ACTN4-013 ENSP00000467190
ENST00000589528
Show » Show » 105 11.5 No 0
ACTN4-201 ENSP00000411187
ENST00000424234
Show » Show » 521 59.6 No 0