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Acvr2b Gene Detail
Summary
  • Symbol
    Acvr2b
  • Name
    activin receptor IIB
  • Synonyms
    ActRIIB
  • Feature Type
    protein coding gene
  • IDs
    MGI:87912
    NCBI Gene: 11481
  • Gene Overview
    MyGene.info: ACVR2B
  • Alliance
Location & Maps
more
  • Sequence Map
    Chr9:119402118-119434995 bp, + strand
  • From Ensembl annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      32878 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 9, 71.33 cM
  • Mapping Data
    1 experiment
Homology
more
  • Human Ortholog
    ACVR2B, activin A receptor type 2B
  • Vertebrate Orthologs
    10
  • Human Ortholog
    ACVR2B, activin A receptor type 2B
    Orthology source: HGNC, HomoloGene
  • Synonyms
    ActR-IIB, ACTRIIB, HTX4
  • Links
    NCBI Gene ID: 93
    neXtProt AC: NX_Q13705
    UniProt: Q13705

  • Chr Location
    3p22.2; chr3:38454299-38493142 (+)  GRCh38.p7

Human Diseases
more
  • Diseases
    2 with Acvr2b mouse models; 1 with human ACVR2B associations

Human Disease Mouse Models
      
IDs
View 1 model
      
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
    31 phenotypes from 5 alleles in 6 genetic backgrounds
    21 phenotypes from multigenic genotypes
    24 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 targeted mutations that inactivate the gene show abnormal lateral asymmetry and homeotic transformation of the axial skeleton, and die shortly after birth with extensive cardiac defects.
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 ENSMUSG00000061393 Ensembl Gene Model | MGI Sequence Detail 32878 C57BL/6J ±  kb
    transcript ENSMUST00000165044 Ensembl | MGI Sequence Detail 2093 Not Applicable  
    polypeptide ENSMUSP00000126108 Ensembl | MGI Sequence Detail 536 Not Applicable  
    For the selected sequence
    Polymorphisms
    less
    • SNPs within 2kb
      367 from dbSNP Build 142
    • PCR
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 53
      Genomic 2
      cDNA 40
      Primer pair 7
      Other 4

      Microarray probesets 4
    Other
    Accession IDs
    less
    MGD-MRK-1098
    References
    more
    • Summaries
      All 109
      Developmental Gene Expression 42
      Diseases 1
      Gene Ontology 27
      Phenotypes 24
    • Earliest
      J:1073 Matzuk MM, et al., Structure of the mouse activin receptor type II gene. Biochem Biophys Res Commun. 1992 May 29;185(1):404-13
    • Latest
      J:250512 Li J, et al., CITGeneDB: a comprehensive database of human and mouse genes enhancing or suppressing cold-induced thermogenesis validated by perturbation experiments in mice. Database (Oxford). 2017;

    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
    09/11/2018
    MGI 6.12
    The Jackson Laboratory