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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
    genome feature page
  • 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
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 11, 36.40 cM
  • Mapping Data
    2 experiments
Strain
Comparison
more
  • SNPs within 2kb
    4445 from dbSNP Build 142
  • Strain Annotations
    19
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 ENSMUSG00200036919
 protein coding gene Chr11:55891928-56034893 (-)
A/J ENSMUSG00195038965
 protein coding gene Chr11:55810811-55963291 (-)
AKR/J ENSMUSG00220042260
 protein coding gene Chr11:55988147-56131614 (-)
BALB/cJ ENSMUSG00180038440
 protein coding gene Chr11:55908161-56051132 (-)
C3H/HeJ ENSMUSG00175044241
 protein coding gene Chr11:55846015-55998462 (-)
C57BL/6NJ ENSMUSG00215038134
 protein coding gene Chr11:55675933-55818139 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0016424
 protein coding gene Chr11:53809105-53953056 (-)
CAST/EiJ ENSTCUG00005042225
 protein coding gene Chr11:55401446-55541988 (-)
CBA/J ENSMUSG00210030761
 protein coding gene Chr11:55697384-55849842 (-)
DBA/2J ENSMUSG00185033368
 protein coding gene Chr11:55882332-56034797 (-)
FVB/NJ ENSMUSG00205043986
 protein coding gene Chr11:55751010-55903473 (-)
JF1/MsJ ENSUMUG00000024538
 protein coding gene Chr11:56238932-56381186 (-)
LP/J ENSMUSG00230049907
 protein coding gene Chr11:57089013-57242531 (-)
NOD/ShiLtJ ENSMUSG00190046584
 protein coding gene Chr11:55950655-56104372 (-)
NZO/HlLtJ ENSMUSG00225031822
 protein coding gene Chr11:59103090-59241755 (-)
PWK/PhJ ENSLUMG00010029641
 protein coding gene Chr11:55706768-55849037 (-)
SPRET/EiJ ENSMSPG00010033393
 protein coding gene Chr11:56476244-56622747 (-)
WSB/EiJ ENSIUOG00005029498
 protein coding gene Chr11:55749022-55902192 (-)



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
    UniProt: Q5VST9

  • Chr Location
    1q42.13; chr1:228208044-228378876 (+)  GRCh38
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    16 phenotypes from 2 alleles in 3 genetic backgrounds
    11 phenotypes from multigenic genotypes
    18 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
less
  • All GO Annotations
    66
  • GO References
    14
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
membraneless 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
    685
  • Tissues
    9
  • cDNA Data
    27
  • Literature Summary
    6
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 380698 NCBI Gene Model | MGI Sequence Detail 142120 C57BL/6J ±  kb
    transcript NM_001428368 RefSeq | MGI Sequence Detail 26882 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 58
      Developmental Gene Expression 6
      Gene Ontology 14
      Phenotypes 18
    • Earliest
      J:137335 Roderick TH, Chromosomal inversions in studies of mammalian mutagenesis. Genetics. 1979 May;92(1 Pt 1 Suppl):s121-6
    • Latest
      J:377437 Actis Dato V, et al., Novel links of ATG4 proteases to cytoskeletal adapters of the obscurin protein family. Autophagy. 2025 Dec;21(12):3433-3435
    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)
    Citing These Resources
    Funding Information
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    Send questions and comments to User Support.     		last database update
    09/08/2026
    MGI 6.24     		The Jackson Laboratory