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Actn4 Gene Detail
Summary
  • Symbol
    Actn4
  • Name
    actinin alpha 4
  • Feature Type
    protein coding gene
  • IDs
    MGI:1890773
    NCBI Gene: 60595
  • Gene Overview
    MyGene.info: ACTN4
  • Alliance
Location & Maps
more
  • Sequence Map
    Chr7:28893248-28962340 bp, - strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      69093 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 7, 16.94 cM
  • Mapping Data
    4 experiments
Homology
more
  • Human Ortholog
    ACTN4, actinin alpha 4
  • Vertebrate Orthologs
    10
  • Human Ortholog
    ACTN4, actinin alpha 4
    Orthology source: HomoloGene, HGNC
  • Synonyms
    ACTININ-4, FSGS, FSGS1
  • Links
    NCBI Gene ID: 81
    neXtProt AC: NX_O43707
    UniProt: O43707

  • Chr Location
    19q13.2; chr19:38647616-38730532 (+)  GRCh38.p7

Human Diseases
more
  • Diseases
    1 with Actn4 mouse models; 1 with human ACTN4 associations

Human Disease Mouse Models
      
IDs
View 1 model
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    1 with disease annotations
  • References
    1 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    66 phenotypes from 3 alleles in 3 genetic backgrounds
    3 images
    20 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
immune system
integument
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
neoplasm
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
vision/eye

Click cells to view annotations.
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.
Gene Ontology
(GO)
Classifications
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  • All GO Annotations
  • GO References
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
RNA binding
signaling receptor activity
signaling receptor binding
transcription
transferase
transporter
Biological Process

carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
nucleic acid-templated transcription
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
synapse
vacuole
Click cells to view annotations.
Expression
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Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
  • Tissues
  • cDNA Data
  • Literature Summary
  • Comparison Matrix
  • Interactions
    less
    Sequences &
    Gene Models
    less
    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 sequence
    Polymorphisms
    less
    • SNPs within 2kb
      308 from dbSNP Build 142
    • PCR
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 16
      cDNA 12
      Primer pair 4

      Microarray probesets 3
    Other
    Accession IDs
    less
    MGI:2142313
    References
    more
    • Summaries
      All 76
      Developmental Gene Expression 5
      Diseases 1
      Gene Ontology 20
      Phenotypes 20
    • 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:261316 Perez-Garcia V, et al., Placentation defects are highly prevalent in embryonic lethal mouse mutants. Nature. 2018 Mar 22;555(7697):463-468

    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
    Citing These Resources
    Funding Information
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    last database update
    10/09/2018
    MGI 6.12
    The Jackson Laboratory