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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
  • Alliance
  • Transcription Start Sites
    11 TSS
Location &
Maps
more
  • Sequence Map
    Chr11:58885082-59027201 bp, - strand
    From NCBI annotation of GRCm39
  • 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 Chr11:58885082-59029996 (-)
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
    4
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    OBSCN, obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF
  • Synonyms
    ARHGEF30, RHABDO1, UNC89
  • Links
    NCBI Gene ID: 84033
    neXtProt AC: NX_Q5VST9
    UniProt: Q5VST9

  • Chr Location
    1q42.13; chr1:228208044-228378876 (+)  GRCh38

Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    14 phenotypes from 2 alleles in 3 genetic backgrounds
    11 phenotypes from multigenic genotypes
    15 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 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 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
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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
  • Sequences &
    Gene Models
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    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 8886 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 28
      cDNA 27
      Other 1

      Microarray probesets 5
    Other
    Accession IDs
    less
    MGI:2664530, MGI:2685724, MGI:3702401
    References
    more
    • Summaries
      All 48
      Developmental Gene Expression 4
      Gene Ontology 9
      Phenotypes 15
    • Earliest
      J:137335 Roderick TH, Chromosomal inversions in studies of mammalian mutagenesis. Genetics. 1979 May;92(1 Pt 1 Suppl):s121-6
    • Latest
      J:307839 Hu LR, et al., Proteomic Analysis of Myocardia Containing the Obscurin R4344Q Mutation Linked to Hypertrophic Cardiomyopathy. Front Physiol. 2020;11:478

    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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    last database update
    03/12/2024
    MGI 6.23
    The Jackson Laboratory