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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 zebrafish

Protein SuperFamily: alpha-actinin
Gene Tree: Actn4

Human
homologs
Human Homolog ACTN4, actinin, alpha 4
NCBI Gene ID 81
neXtProt AC  NX_O43707
Human Synonyms  ACTININ-4, FSGS, FSGS1
Human Chr (Location)  19q13; chr19:38647616-38730531 (+)  GRCh38
Disease Associations  (1) Diseases Associated with Human ACTN4
Alleles
and
phenotypes
All alleles(128) : Gene trapped(124) Targeted(4)
Incidental mutations (data from Mutagenetix , APF )
 
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 Using Mouse Actn4 (1)    Alleles Annotated to Human Diseases(1)    Phenotype Images(3)
Gene Ontology
(GO)
classifications
All GO classifications: (46 annotations)
Process actin filament bundle assembly, negative regulation of cellular component movement, ...
Component cell-cell junction, cell junction, ...
Function actin binding, actin filament binding, ...
External Resources: FuncBase
Expression
Literature Summary: (5 records)
Data Summary: Results (15)    Tissues (9)    Images (2)
Theiler Stages: 3, 4, 5, 22, 28
Assay TypeResults
RT-PCR 15
cDNA source data(10)
External Resources: Allen Institute   GEO   ArrayExpress
Molecular
reagents
All nucleic(15) cDNA(11) Primer pair(4)
Microarray probesets(3)
Other database
links
VEGA Gene ModelOTTMUSG00000016983 (Evidence)
Ensembl Gene ModelENSMUSG00000054808 (Evidence)
Entrez Gene60595 (Evidence)
NIA Mouse Gene IndexU084977
Consensus CDS ProjectCCDS21061.1
International Mouse Knockout Project StatusActn4
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(94) 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:201396 Sakane A, et al., Junctional Rab13-binding protein (JRAB) regulates cell spreading via filamins. Genes Cells. 2013 Sep;18(9):810-22
All references(66)
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
07/15/2014
MGI 5.18
The Jackson Laboratory