ACTN4

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 VIEW

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

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