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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
  • Transcription Start Sites
    14 TSS
Location &
Maps
more
  • Sequence Map
    Chr7:28893248-28962340 bp, - strand
  • From Ensembl annotation of GRCm38

    View this region in JBrowse

  • Genome Browsers
  • Genetic Map
    Chromosome 7, 16.94 cM
  • Mapping Data
    4 experiments
Strain
Comparison
more
  • SNPs within 2kb
    308 from dbSNP Build 142
  • Strain Annotations
    18
  • PCR
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1890773
protein coding gene Chr7:28893248-28962354 (-)
129S1/SvImJ MGP_129S1SvImJ_G0031967
protein coding gene Chr7:27771019-27846967 (-)
A/J MGP_AJ_G0031945
protein coding gene Chr7:27050089-27119543 (-)
AKR/J MGP_AKRJ_G0031877
protein coding gene Chr7:27747607-27818141 (-)
BALB/cJ MGP_BALBcJ_G0031952
protein coding gene Chr7:27202673-27272220 (-)
C3H/HeJ MGP_C3HHeJ_G0031671
protein coding gene Chr7:28150084-28224888 (-)
C57BL/6NJ MGP_C57BL6NJ_G0032416
protein coding gene Chr7:28649787-28727911 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0029468
protein coding gene Chr7:28107740-28178047 (-)
CAST/EiJ MGP_CASTEiJ_G0031006
protein coding gene Chr7:21443524-21516349 (-)
CBA/J MGP_CBAJ_G0031637
protein coding gene Chr7:29973251-30077227 (-)
DBA/2J MGP_DBA2J_G0031789
protein coding gene Chr7:26795360-26864706 (-)
FVB/NJ MGP_FVBNJ_G0031746
protein coding gene Chr7:26884037-26955531 (-)
LP/J MGP_LPJ_G0031869
protein coding gene Chr7:28067888-28141783 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0031782
protein coding gene Chr7:29397399-29467775 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0032446
protein coding gene Chr7:27229668-27302906 (-)
PWK/PhJ MGP_PWKPhJ_G0030731
protein coding gene Chr7:21832120-21902119 (-)
SPRET/EiJ MGP_SPRETEiJ_G0030564
protein coding gene Chr7:18243662-18322328 (-)
WSB/EiJ MGP_WSBEiJ_G0031115
protein coding gene Chr7:27609805-27679121 (-)



Homology
more
  • Human Ortholog
    ACTN4, actinin alpha 4
  • Vertebrate Orthologs
    10
  • Human Ortholog
    ACTN4, actinin alpha 4
    Orthology source: HGNC, HomoloGene
  • 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
less
  • 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
less
  • 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 population 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
less
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 ENSMUSG00000054808 Ensembl Gene Model | MGI Sequence Detail 69093 C57BL/6J ±  kb
    transcript ENSMUST00000217157 Ensembl | MGI Sequence Detail 3530 Not Applicable  
    polypeptide ENSMUSP00000151028 Ensembl | MGI Sequence Detail 932 Not Applicable  
    For the selected sequence
    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 75
      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
    12/04/2018
    MGI 6.13
    The Jackson Laboratory