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Acvr2a Gene Detail
Summary
  • Symbol
    Acvr2a
  • Name
    activin receptor IIA
  • Synonyms
    ActRIIa, Acvr2, tActRII
  • Feature Type
    protein coding gene
  • IDs
    MGI:102806
    NCBI Gene: 11480
  • Gene Overview
    MyGene.info: ACVR2A
Location & Maps
more
  • Sequence Map
    Chr2:48814109-48903269 bp, + strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      89161 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 2, 28.38 cM
  • Mapping Data
    4 experiments
Homology
more
  • Human Ortholog
    ACVR2A, activin A receptor type 2A
  • Vertebrate Orthologs
    10
  • Human Ortholog
    ACVR2A, activin A receptor type 2A
    Orthology source: HGNC, HomoloGene
  • Synonyms
    ACTRII, ACVR2
  • Links
    NCBI Gene ID: 92
    neXtProt AC: NX_P27037

  • Chr Location
    2q22.3; chr2:147844517-147930827 (+)  GRCh38.p2

Human Diseases
more
  • Diseases
    1 with Acvr2a mouse models

Human Disease Mouse Models
       Pierre Robin Syndrome; PRBNS   OMIM: 261800 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
    35 phenotypes from 3 alleles in 4 genetic backgrounds
    25 phenotypes from multigenic genotypes
    32 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.
  • All Mutations and Alleles
    18
  • Chemically induced (other)
    1
  • Gene trapped
    11
  • Targeted
    6
  • Genomic Mutations
    1 involving Acvr2a
  • Incidental Mutations
While most mice homozygous for targeted mutations that inactivate this gene appear normal, a few display skeletal and facial abnormalities. As adults, follicle-stimulating hormone is suppressed, affecting reproduction.
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
receptor
receptor binding
RNA binding
transcription
transferase
transporter
Biological Process

nucleic acid-templated transcription
carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
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
Interactions
less
Sequences &
Gene Models
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Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000012394 VEGA Gene Model | MGI Sequence Detail 89161 C57BL/6J ±  kb
transcript OTTMUST00000029496 VEGA | MGI Sequence Detail 5686 Not Applicable  
polypeptide OTTMUSP00000013280 VEGA | MGI Sequence Detail 513 Not Applicable  
For the selected sequence
Polymorphisms
less
  • SNPs within 2kb
    190 from dbSNP Build 142
  • PCR
Protein
Information
less
Molecular
Reagents
less
  • All nucleic 34
    Genomic 7
    cDNA 18
    Primer pair 7
    Other 2

    Microarray probesets 4
Other
Accession IDs
less
MGD-MRK-19714
References
more
  • Summaries
    All 99
    Developmental Gene Expression 25
    Diseases 1
    Gene Ontology 19
    Phenotypes 32
  • Earliest
    J:11226 Mathews LS, et al., Expression cloning of an activin receptor, a predicted transmembrane serine kinase. Cell. 1991 Jun 14;65(6):973-82
  • Latest
    J:229306 Indjeian VB, et al., Evolving New Skeletal Traits by cis-Regulatory Changes in Bone Morphogenetic Proteins. Cell. 2016 Jan 14;164(1-2):45-56

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
08/17/2016
MGI 6.05
The Jackson Laboratory