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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
  • Alliance
    gene page
  • Transcription Start Sites
    5 TSS
Location &
Maps
more
  • Sequence Map
    Chr9:119231184-119264061 bp, + strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 9, 71.33 cM
  • Mapping Data
    1 experiment
Strain
Comparison
more
  • SNPs within 2kb
    336 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_87912
 protein coding gene Chr9:119231081-119271214 (+)
129S1/SvImJ MGP_129S1SvImJ_G0035419
 protein coding gene Chr9:122177233-122209698 (+)
A/J MGP_AJ_G0035400
 protein coding gene Chr9:117622434-117655699 (+)
AKR/J MGP_AKRJ_G0035333
 protein coding gene Chr9:120692051-120727867 (+)
BALB/cJ MGP_BALBcJ_G0035396
 protein coding gene Chr9:117499050-117533583 (+)
C3H/HeJ MGP_C3HHeJ_G0035104
 protein coding gene Chr9:121157389-121189626 (+)
C57BL/6NJ MGP_C57BL6NJ_G0035919
 protein coding gene Chr9:125508027-125540325 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0032801
 protein coding gene Chr9:114821500-114854310 (+)
CAST/EiJ MGP_CASTEiJ_G0034407
 protein coding gene Chr9:121142099-121175987 (+)
CBA/J MGP_CBAJ_G0035071
 protein coding gene Chr9:130219603-130254287 (+)
DBA/2J MGP_DBA2J_G0035230
 protein coding gene Chr9:117066353-117097960 (+)
FVB/NJ MGP_FVBNJ_G0035177
 protein coding gene Chr9:115921502-115957362 (+)
LP/J MGP_LPJ_G0035309
 protein coding gene Chr9:122519923-122550860 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0035218
 protein coding gene Chr9:131187633-131219700 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0035938
 protein coding gene Chr9:121077661-121109548 (+)
PWK/PhJ MGP_PWKPhJ_G0034113
 protein coding gene Chr9:117497509-117534320 (+)
SPRET/EiJ MGP_SPRETEiJ_G0033949
 protein coding gene Chr9:121179297-121215028 (+)
WSB/EiJ MGP_WSBEiJ_G0034528
 protein coding gene Chr9:120961307-120998258 (+)



Homology
more
  • Human Ortholog
    ACVR2B, activin A receptor type 2B
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    ACVR2B, activin A receptor type 2B
  • Synonyms
    ActR-IIB, ACTRIIB, HTX4
  • Links
    NCBI Gene ID: 93
    neXtProt AC: NX_Q13705
    UniProt: Q13705

  • Chr Location
    3p22.2; chr3:38453890-38493142 (+)  GRCh38
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
less
  • Phenotype Summary
    35 phenotypes from 5 alleles in 6 genetic backgrounds
    21 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.
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
less
  • All GO Annotations
    84
  • GO References
    27
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
non-membrane-bounded 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
    1182
  • Tissues
    196
  • cDNA Data
    39
  • Literature Summary
    45
  • Comparison Matrix
    Gene Expression + Phenotype
    • 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
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 54
      Genomic 2
      cDNA 40
      Primer pair 8
      Other 4

      Microarray probesets 4
    Other
    Accession IDs
    less
    MGD-MRK-1098
    References
    more
    • Summaries
      All 122
      Developmental Gene Expression 45
      Diseases 1
      Gene Ontology 27
      Phenotypes 32
    • 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:333966 Nagaoka T, et al., Functional interaction between Vangl2 and N-cadherin regulates planar cell polarization of the developing neural tube and cochlear sensory epithelium. Sci Rep. 2023 Mar 8;13(1):3905
    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
    04/16/2024
    MGI 6.23     		The Jackson Laboratory