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Acvr1b Gene Detail
Summary
  • Symbol
    Acvr1b
  • Name
    activin A receptor, type 1B
  • Synonyms
    ActRIB, ActR-IB, Acvrlk4, Alk4, SKR2
  • Feature Type
    protein coding gene
  • IDs
    MGI:1338944
    NCBI Gene: 11479
  • Gene Overview
    MyGene.info: ACVR1B
Location & Maps
more
  • Sequence Map
    Chr15:101174067-101213679 bp, + strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      39613 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 15, 56.48 cM
  • Mapping Data
    1 experiment
Homology
more
  • Human Ortholog
    ACVR1B, activin A receptor type 1B
  • Vertebrate Orthologs
    11
  • Human Ortholog
    ACVR1B, activin A receptor type 1B
    Orthology source: HGNC, HomoloGene
  • Synonyms
    ACTRIB, ACVRLK4, ALK4, SKR2
  • Links
    NCBI Gene ID: 91
    neXtProt AC: NX_P36896

  • Chr Location
    12q13; chr12:51951667-51997079 (+)  GRCh38.p2

Human Diseases
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  • References
    1 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    40 phenotypes from 5 alleles in 5 genetic backgrounds
    6 phenotypes from multigenic genotypes
    36 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
    22
  • Chemically induced (other)
    1
  • Gene trapped
    11
  • Radiation induced
    2
  • Targeted
    8
  • Genomic Mutations
    3 involving Acvr1b
  • Incidental Mutations
Embryos homozygous for targeted mutations that inactivate the gene arrest at the egg cylinder stage, prior to gastrulation, showing epiblast and extraembryonic ectoderm disorganization.
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
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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
Interactions
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Sequences &
Gene Models
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Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000048171 VEGA Gene Model | MGI Sequence Detail 39613 C57BL/6J ±  kb
transcript OTTMUST00000123695 VEGA | MGI Sequence Detail 4413 Not Applicable  
polypeptide OTTMUSP00000067473 VEGA | MGI Sequence Detail 505 Not Applicable  
For the selected sequence
Polymorphisms
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  • SNPs within 2kb
    77 from dbSNP Build 142
  • PCR
Protein
Information
less
Molecular
Reagents
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  • All nucleic 83
    Genomic 1
    cDNA 76
    Primer pair 5
    Other 1

    Microarray probesets 5
Other
Accession IDs
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MGD-MRK-25637, MGI:104309
References
more
  • Summaries
    All 72
    Developmental Gene Expression 23
    Diseases 1
    Gene Ontology 14
    Phenotypes 36
  • Earliest
    J:27756 Verschueren K, et al., Expression of type I and type IB receptors for activin in midgestation mouse embryos suggests distinct functions in organogenesis. Mech Dev. 1995 Jul;52(1):109-23
  • Latest
    J:225912 Liang GJ, et al., Activin A Accelerates the Progression of Fetal Oocytes Throughout Meiosis and Early Oogenesis in the Mouse. Stem Cells Dev. 2015 Oct 15;24(20):2455-65

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
06/15/2016
MGI 6.04
The Jackson Laboratory