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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
  • Alliance
    gene page
  • Transcription Start Sites
    6 TSS
Location &
Maps
more
  • Sequence Map
    Chr2:48704121-48793276 bp, + strand
    From NCBI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 2, 28.38 cM
  • Mapping Data
    4 experiments
Strain
Comparison
more
  • SNPs within 2kb
    1559 from dbSNP Build 142
  • Strain Annotations
    18
  • PCR
    1
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_102806
 protein coding gene Chr2:48704121-48793281 (+)
129S1/SvImJ MGP_129S1SvImJ_G0025719
 protein coding gene Chr2:47957180-48045162 (+)
A/J MGP_AJ_G0025695
 protein coding gene Chr2:46136082-46226075 (+)
AKR/J MGP_AKRJ_G0025665
 protein coding gene Chr2:47474979-47566659 (+)
BALB/cJ MGP_BALBcJ_G0025690
 protein coding gene Chr2:46256725-46344608 (+)
C3H/HeJ MGP_C3HHeJ_G0025451
 protein coding gene Chr2:47446774-47540025 (+)
C57BL/6NJ MGP_C57BL6NJ_G0026136
 protein coding gene Chr2:49435649-49529452 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0023542
 protein coding gene Chr2:44207887-44292517 (+)
CAST/EiJ MGP_CASTEiJ_G0024916
 protein coding gene Chr2:47492745-47586311 (+)
CBA/J MGP_CBAJ_G0025431
 protein coding gene Chr2:51291748-51388875 (+)
DBA/2J MGP_DBA2J_G0025562
 protein coding gene Chr2:45760114-45858130 (+)
FVB/NJ MGP_FVBNJ_G0025524
 protein coding gene Chr2:45492928-45580565 (+)
LP/J MGP_LPJ_G0025650
 protein coding gene Chr2:47875746-47964030 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0025555
 protein coding gene Chr2:52237213-52350415 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0026194
 protein coding gene Chr2:47379435-47464142 (+)
PWK/PhJ MGP_PWKPhJ_G0024657
 protein coding gene Chr2:45644430-45735869 (+)
SPRET/EiJ MGP_SPRETEiJ_G0024462
 protein coding gene Chr2:47526789-47616567 (+)
WSB/EiJ MGP_WSBEiJ_G0024983
 protein coding gene Chr2:47612929-47700917 (+)



Homology
more
  • Human Ortholog
    ACVR2A, activin A receptor type 2A
  • Vertebrate Orthologs
    4
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    ACVR2A, activin A receptor type 2A
  • Synonyms
    ACTRII, ACVR2
  • Links
    NCBI Gene ID: 92
    neXtProt AC: NX_P27037
    UniProt: P27037

  • Chr Location
    2q22.3-q23.1; chr2:147844517-147930826 (+)  GRCh38
Human Diseases
more
  • Diseases
    1 with Acvr2a mouse models; 2 with human ACVR2A associations

Human Disease Mouse Models
      
IDs
 View 1 model
      
IDs
IDs
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
    38 phenotypes from 3 alleles in 4 genetic backgrounds
    62 phenotypes from multigenic genotypes
    43 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.
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
less
  • All GO Annotations
    76
  • GO References
    24
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
    902
  • Tissues
    138
  • cDNA Data
    16
  • Literature Summary
    33
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 11480 NCBI Gene Model | MGI Sequence Detail 89156 C57BL/6J ±  kb
    transcript NM_007396 RefSeq | MGI Sequence Detail 5681 ZRU/MplStud  
    polypeptide P27038 UniProt | EBI | MGI Sequence Detail 513 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 38
      Genomic 7
      cDNA 20
      Primer pair 7
      Other 4

      Microarray probesets 4
    Other
    Accession IDs
    less
    MGD-MRK-19714
    References
    more
    • Summaries
      All 129
      Developmental Gene Expression 33
      Diseases 1
      Gene Ontology 24
      Phenotypes 43
    • 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:345621 Adams DJ, et al., Genetic determinants of micronucleus formation in vivo. Nature. 2024 Mar;627(8002):130-136
    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)
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    Funding Information
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    Send questions and comments to User Support.     		last database update
    11/12/2024
    MGI 6.24     		The Jackson Laboratory