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Gene: ACTN4 (actinin alpha 4) Homo sapiens
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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
Orthologs:
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
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
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)
Model


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

Genomics

Comparative Map Data
Position Markers
miRNA Target Status

Sequence

Nucleotide Sequences
Protein Sequences
Promoters
Clinical Variants

Additional Information

External Database Links
Nomenclature History
 
More on ACTN4
Alliance Gene
NCBI 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



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