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Obscn Gene Detail
Summary
  • Symbol
    Obscn
  • Name
    obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF
  • Synonyms
    LOC380698, MGC:51514, OTTMUSG00000005786
  • Feature Type
    protein coding gene
  • IDs
    MGI:2681862
    NCBI Gene: 380698
  • Gene Overview
    MyGene.info: OBSCN
  • Alliance
Location &
Maps
more
  • Sequence Map
    Chr11:58994256-59136375 bp, - strand
  • From NCBI annotation of GRCm38

    View this region in JBrowse

  • Genome Browsers
  • Genetic Map
    Chromosome 11, 36.40 cM
  • Mapping Data
    2 experiments
Strain
Comparison
more
  • SNPs within 2kb
    2069 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_2681862
protein coding gene Chr11:58994256-59136402 (-)
129S1/SvImJ MGP_129S1SvImJ_G0018387
protein coding gene Chr11:58775947-58939765 (-)
A/J MGP_AJ_G0018356
protein coding gene Chr11:56536906-56682700 (-)
AKR/J MGP_AKRJ_G0018326
protein coding gene Chr11:58436105-58592424 (-)
BALB/cJ MGP_BALBcJ_G0018327
protein coding gene Chr11:56904704-57051482 (-)
C3H/HeJ MGP_C3HHeJ_G0018140
protein coding gene Chr11:58331354-58478885 (-)
C57BL/6NJ MGP_C57BL6NJ_G0018779
protein coding gene Chr11:60651870-60821016 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0016424
protein coding gene Chr11:53809105-53953056 (-)
CAST/EiJ MGP_CASTEiJ_G0017698
protein coding gene Chr11:58440867-58596866 (-)
CBA/J MGP_CBAJ_G0018114
protein coding gene Chr11:63296974-63465013 (-)
DBA/2J MGP_DBA2J_G0018223
protein coding gene Chr11:56213829-56369859 (-)
FVB/NJ MGP_FVBNJ_G0018214
protein coding gene Chr11:55861437-56011210 (-)
LP/J MGP_LPJ_G0018296
protein coding gene Chr11:59391639-59545775 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0018238
protein coding gene Chr11:64453496-64621303 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0018820
protein coding gene Chr11:58442608-58611184 (-)
PWK/PhJ MGP_PWKPhJ_G0017468
protein coding gene Chr11:56799199-56948913 (-)
SPRET/EiJ MGP_SPRETEiJ_G0017261
protein coding gene Chr11:58248827-58410551 (-)
WSB/EiJ MGP_WSBEiJ_G0017748
protein coding gene Chr11:58127048-58300529 (-)



Homology
more
  • Human Ortholog
    OBSCN, obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF
  • Vertebrate Orthologs
    7
  • Human Ortholog
    OBSCN, obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF
    Orthology source: HomoloGene, HGNC
  • Synonyms
    ARHGEF30, UNC89
  • Links
    NCBI Gene ID: 84033
    neXtProt AC: NX_Q5VST9
    UniProt: Q5VST9

  • Chr Location
    1q42.13; chr1:228208013-228381431 (+)  GRCh38.p7

Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    4 phenotypes from 1 allele in 1 genetic background
    9 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 a knock-out allele exhibit centrally localized nuclei in muscle fibers and mild myopathy in aged mice.
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
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
  • Comparison Matrix
  • Interactions
    less
    Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 380698 NCBI Gene Model | MGI Sequence Detail 142120 C57BL/6J ±  kb
    transcript NM_001171512 RefSeq | MGI Sequence Detail 24175 C57BL/6  
    polypeptide A2AAJ9 UniProt | EBI | MGI Sequence Detail 8891 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 27
      cDNA 27

      Microarray probesets 5
    Other
    Accession IDs
    less
    MGI:2664530, MGI:2685724, MGI:3702401
    References
    more
    • Summaries
      All 42
      Developmental Gene Expression 3
      Gene Ontology 9
      Phenotypes 9
    • Earliest
      J:137335 Roderick TH, Chromosomal inversions in studies of mammalian mutagenesis. Genetics. 1979 May;92(1 Pt 1 Suppl):s121-6
    • Latest
      J:243723 Hu LR, et al., Deregulated Ca2+ cycling underlies the development of arrhythmia and heart disease due to mutant obscurin. Sci Adv. 2017 Jun;3(6):e1603081

    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
    11/06/2018
    MGI 6.13
    The Jackson Laboratory