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 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; chr19:39138267-39221171 (+)  GRCh37.p10
Disease Associations		(1) Diseases Associated with Human ACTN4

Alleles and phenotypes

All alleles(128) : Targeted(4) Gene trapped(124)
 

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: (38 annotations)

Process	actin crosslink formation, actin filament bundle assembly, ...
Component	cortical cytoskeleton, cytoplasm, ...
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 Type	Results
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 Model	OTTMUSG00000016983 (Evidence)
Ensembl Gene Model	ENSMUSG00000054808 (Evidence)
Entrez Gene	60595 (Evidence)
NIA Mouse Gene Index	U084977
Consensus CDS Project	CCDS21061.1
International Mouse Knockout Project Status	Actn4

Sequences

Length	Strain/Species
genomic	OTTMUSG00000016983	VEGA Gene Model | MGI Sequence Detail	69093	C57BL/6J
transcript	OTTMUST00000041188	VEGA | MGI Sequence Detail	3877	Not Applicable
polypeptide	OTTMUSP00000018457	VEGA | MGI Sequence Detail	912	Not Applicable

All sequences(86) RefSeq(2) UniProt(10)

Polymorphisms

PCR(1) : SNPs(314 from dbSNP Build 128)

Protein-related information

Resource	ID	Description
InterPro	IPR001589	Actinin-type, actin-binding, conserved site
InterPro	IPR026921	Alpha-actinin
InterPro	IPR002048	Calcium-binding EF-hand
InterPro	IPR001715	Calponin homology domain
InterPro	IPR018247	EF-Hand 1, calcium-binding site
InterPro	IPR018249	EF-HAND 2
InterPro	IPR014837	EF-hand, Ca insensitive
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:187422 Collin GB, et al., The Alstrom syndrome protein, ALMS1, interacts with alpha-actinin and components of the endosome recycling pathway. PLoS One. 2012;7(5):e37925
All references(62)

Other accession IDs

MGI:2142313