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Gene: ACTN4 (actinin alpha 4) Homo sapiens
Symbol: ACTN4
Name: actinin alpha 4
Description: 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]
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: actinin alpha4 isoform; actinin, alpha 4; ACTININ-4; alpha-actinin-4; DKFZp686K23158; F-actin cross-linking protein; focal segmental glomerulosclerosis 1; FSGS; FSGS1; non-muscle alpha-actinin 4
Mus musculus (house mouse) : Actn4 (actinin alpha 4)  MGI  Alliance
Rattus norvegicus (Norway rat) : Actn4 (actinin alpha 4)  Alliance
Chinchilla lanigera (long-tailed chinchilla) : Actn4 (actinin alpha 4)
Pan paniscus (bonobo/pygmy chimpanzee) : ACTN4 (actinin alpha 4)
Canis lupus familiaris (dog) : ACTN4 (actinin alpha 4)
Ictidomys tridecemlineatus (thirteen-lined ground squirrel) : Actn4 (actinin alpha 4)
Sus scrofa (pig) : ACTN4 (actinin alpha 4)
more info ...
Related Pseudogenes: ACTN4P1  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Human AssemblyChrPosition (strand)SourceGenome Browsers
GRCh381938,647,616 - 38,730,532 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh371939,138,256 - 39,221,336 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361943,830,167 - 43,913,010 (+)NCBINCBI36hg18NCBI36
Build 341943,830,166 - 43,913,010NCBI
Celera1935,940,352 - 36,023,163 (+)NCBI
Cytogenetic Map19q13.2NCBI
HuRef1935,584,836 - 35,667,954 (+)NCBIHuRef
CHM1_11939,139,079 - 39,221,980 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)

Disease Annotations
Gene-Chemical Interaction Annotations
Gene Ontology Annotations
Molecular Pathway Annotations
Phenotype Annotations
References - curated
References - uncurated


Comparative Map Data
Position Markers
miRNA Target Status


Nucleotide Sequences
Protein Sequences
Clinical Variants

Additional Information

External Database Links
Nomenclature History
More on ACTN4
Alliance Gene
Ensembl Gene
JBrowse: hg19 hg38
HGNC Report
NCBI Genome Data Viewer

CRRD Object Information
CRRD ID: 735302
Created: 2004-02-06
Species: Homo sapiens
Last Modified: 2019-07-09
Status: ACTIVE


RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.