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Actn2 Gene Detail
Summary
  • Symbol
    Actn2
  • Name
    actinin alpha 2
  • Synonyms
    1110008F24Rik
  • Feature Type
    protein coding gene
  • IDs
    MGI:109192
    NCBI Gene: 11472
  • Alliance
    gene page
  • Transcription Start Sites
    15 TSS
Location &
Maps
more
  • Sequence Map
    Chr13:12284312-12355613 bp, - strand
    From NCBI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 13, 4.54 cM
  • Mapping Data
    5 experiments
Strain
Comparison
more
  • SNPs within 2kb
    2186 from dbSNP Build 142
  • Strain Annotations
    18
  • PCR
    2
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_109192
 protein coding gene Chr13:12284312-12355641 (-)
129S1/SvImJ MGP_129S1SvImJ_G0020229
 protein coding gene Chr13:9011949-9087865 (-)
A/J MGP_AJ_G0020185
 protein coding gene Chr13:8854116-8926722 (-)
AKR/J MGP_AKRJ_G0020160
 protein coding gene Chr13:9048222-9120966 (-)
BALB/cJ MGP_BALBcJ_G0020168
 protein coding gene Chr13:8840501-8912534 (-)
C3H/HeJ MGP_C3HHeJ_G0019972
 protein coding gene Chr13:9181308-9254966 (-)
C57BL/6NJ MGP_C57BL6NJ_G0020615
 protein coding gene Chr13:9442621-9518827 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0018222
 protein coding gene Chr13:8680878-8751836 (-)
CAST/EiJ MGP_CASTEiJ_G0019510
 protein coding gene Chr13:8878824-8960129 (-)
CBA/J MGP_CBAJ_G0019939
 protein coding gene Chr13:9692806-9768348 (-)
DBA/2J MGP_DBA2J_G0020056
 protein coding gene Chr13:8672795-8745805 (-)
FVB/NJ MGP_FVBNJ_G0020041
 protein coding gene Chr13:8481614-8559845 (-)
LP/J MGP_LPJ_G0020130
 protein coding gene Chr13:9117581-9193380 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0020077
 protein coding gene Chr13:9987252-10060942 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0020643
 protein coding gene Chr13:8940439-9018241 (-)
PWK/PhJ MGP_PWKPhJ_G0019273
 protein coding gene Chr13:8708422-8781885 (-)
SPRET/EiJ MGP_SPRETEiJ_G0019080
 protein coding gene Chr13:8931270-9002015 (-)
WSB/EiJ MGP_WSBEiJ_G0019570
 protein coding gene Chr13:8907084-8984934 (-)



Homology
more
  • Human Ortholog
    ACTN2, actinin alpha 2
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    ACTN2, actinin alpha 2
  • Synonyms
    CMD1AA, CMH23, CMYO8, CMYP8, MPD6, MYOCOZ
  • Links
    NCBI Gene ID: 88
    neXtProt AC: NX_P35609
    UniProt: P35609

  • Chr Location
    1q43; chr1:236664141-236764631 (+)  GRCh38
Human Diseases
more
  • Diseases
    3 with human ACTN2 associations

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

Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    17 phenotypes from 1 allele in 1 genetic background
    9 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
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
neoplasm
vision/eye

Click cells to view annotations.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    90
  • GO References
    28
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 differentiation
cell population proliferation
cellular component organization
DNA-templated transcription
establishment of localization
homeostatic process
immune system process
lipid metabolic process
programmed cell death
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
membraneless organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
protein-containing complex
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
    895
  • Tissues
    139
  • cDNA Data
    114
  • Literature Summary
    96
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 11472 NCBI Gene Model | MGI Sequence Detail 71302 C57BL/6J ±  kb
    transcript NM_033268 RefSeq | MGI Sequence Detail 3091 Not Specified  
    polypeptide Q9JI91 UniProt | EBI | MGI Sequence Detail 894 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 124
      Genomic 3
      cDNA 114
      Primer pair 7

      Microarray probesets 2
    Other
    Accession IDs
    less
    MGD-MRK-38236, MGI:1920965
    References
    more
    • Summaries
      All 159
      Developmental Gene Expression 96
      Gene Ontology 28
      Phenotypes 9
    • Earliest
      J:29279 Patapoutian A, et al., Disruption of the mouse MRF4 gene identifies multiple waves of myogenesis in the myotome. Development. 1995 Oct;121(10):3347-58
    • Latest
      J:358600 Htet M, et al., A transcriptional enhancer regulates cardiac maturation. Nat Cardiovasc Res. 2024 Jun;3(6):666-684
    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
    Citing These Resources
    Funding Information
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    Send questions and comments to User Support.     		last database update
    12/10/2024
    MGI 6.24     		The Jackson Laboratory