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Actn4
Gene Detail
Symbol

Name
ID
Actn4
actinin alpha 4
MGI:1890773
Feature Type
protein coding gene
Genetic Map
Chromosome 7
16.94 cM
Detailed Genetic Map ± 1 cM


Mapping data(4)
Sequence Map
Chr7:28893248-28962340 bp, - strand
From VEGA annotation of GRCm38

  69093 bp   ±  kb flank

VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer


Mouse Genome Browser
Vertebrate
homology
HomoloGene:55857  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 rhesus macaque; 1 cattle; 1 dog; 1 chicken; 1 western clawed frog; 1 zebrafish

HCOP human homology predictions: ACTN4
Protein SuperFamily: alpha-actinin
Gene Tree: Actn4

Human
homologs
ACTN4, actinin, alpha 4
Orthology source: HomoloGene, HGNC

IDs:
NCBI Gene ID: 81
neXtProt AC: NX_O43707

Human Synonyms: ACTININ-4, FSGS, FSGS1

Human Chr (Location): 19q13; chr19:38647616-38730531 (+)  GRCh38.p2

Disease Associations: (1) Diseases Associated with Human ACTN4

Mutations,
alleles, and
phenotypes
All mutations/alleles(128) : Gene trapped(124) Targeted(4)
Incidental mutations (data from Mutagenetix , APF , CvDC )
 
Mice homozygous for a disruption in this gene die either around birth or within a few months of birth. Those who do survive after birth show poor growth and kidney abnormalities including glomerulosclerosis. This is manifested functionally as proteinuria and abnormal blood urea nitrogen.
 
Human Diseases Modeled in Mice Using Actn4 (1)    Mutations Annotated to Human Diseases (1)    Phenotype Images(3)
Interactions
Actn4 interacts with 129 markers (Mir9-1, Mir9-2, Mir9-3, ...)
Gene Ontology
(GO)
classifications
All GO classifications: (65 annotations)
Process actin filament bundle assembly, bicellular tight junction assembly, ...
Component actin cytoskeleton, cell-cell junction, ...
Function actin binding, actin filament binding, ...
External Resources: FuncBase
Expression
Literature Summary: (5 records)
Data Summary: Results (11)    Tissues (5)    Images (2)    Tissue x Stage Matrix (view)
Assay TypeResults
RT-PCR 11
cDNA source data(10)
Other mouse links: Allen Institute   GEO   Expression Atlas
Other vertebrate links: Xenbase actn4 ; ZFIN actn4    NEW 
Molecular
reagents
All nucleic(15) cDNA(11) Primer pair(4)
Microarray probesets(3)
Other database
links
VEGA Gene Model OTTMUSG00000016983 (Evidence)
Ensembl Gene Model ENSMUSG00000054808 (Evidence)
Entrez Gene 60595 (Evidence)
NIA Mouse Gene Index U084977
Consensus CDS Project CCDS21061.1
International Mouse Phenotyping Consortium Status Actn4
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000016983 VEGA Gene Model | MGI Sequence Detail 69093 C57BL/6J ±  kb
transcript OTTMUST00000041188 VEGA | MGI Sequence Detail 3877 Not Applicable 
polypeptide OTTMUSP00000018457 VEGA | MGI Sequence Detail 912 Not Applicable 

For the selected sequences
All sequences(97) RefSeq(10) UniProt(10)
Polymorphisms
PCR(1) : SNPs within 2kb(324 from dbSNP Build 137)
Protein-related
information
ResourceIDDescription
InterPro IPR001589 Actinin-type, actin-binding, conserved site
InterPro IPR001715 Calponin homology domain
InterPro IPR018247 EF-Hand 1, calcium-binding site
InterPro IPR014837 EF-hand, Ca insensitive
InterPro IPR002048 EF-hand domain
InterPro IPR011992 EF-hand-like domain
InterPro IPR018159 Spectrin/alpha-actinin
InterPro IPR002017 Spectrin repeat
Protein Ontology PR:000003691 alpha-actinin-4
References
(Earliest) J:60984 Ko MS, et al., Large-scale cDNA analysis reveals phased gene expression patterns during preimplantation mouse development. Development. 2000 Apr;127(8):1737-49
(Latest) J:221512 Zhao X, et al., alpha-Actinin 4 potentiates nuclear factor kappa-light-chain-enhancer of activated B-cell (NF-kappaB) activity in podocytes independent of its cytoplasmic actin binding function. J Biol Chem. 2015 Jan 2;290(1):338-49
All references(67)
Disease annotation references (1)
Other
accession IDs
MGI:2142313

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
06/23/2015
MGI 5.22
The Jackson Laboratory