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Sspn Gene Detail
Summary
  • Symbol
    Sspn
  • Name
    sarcospan
  • Synonyms
    Krag
  • Feature Type
    protein coding gene
  • IDs
    MGI:1353511
    NCBI Gene: 16651
  • Alliance
Location & Maps
more
  • Sequence Map
    Chr6:145931641-145965223 bp, + strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      33583 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 6, 77.70 cM
  • Mapping Data
    3 experiments
Homology
more
  • Human Ortholog
    SSPN, sarcospan
  • Vertebrate Orthologs
    9
  • Human Ortholog
    SSPN, sarcospan
    Orthology source: HGNC, HomoloGene
  • Synonyms
    DAGA5, KRAG, NSPN, SPN1, SPN2
  • Links
    NCBI Gene ID: 8082
    neXtProt AC: NX_Q14714
    UniProt: Q14714

  • Chr Location
    12p12.1; chr12:26122024-26234777 (+)  GRCh38.p7

Human Diseases
less
  • Mutations/Alleles
    1 with disease annotations
  • References
    1 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    5 phenotypes from 1 allele in 2 genetic backgrounds
    17 phenotypes from multigenic genotypes
    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 targeted null mutation exhibit no discernable phenotype; mice are viable and fertile with normal muscle histology and physiology.
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 OTTMUSG00000025460 VEGA Gene Model | MGI Sequence Detail 33583 C57BL/6J ±  kb
    transcript OTTMUST00000062688 VEGA | MGI Sequence Detail 4431 Not Applicable  
    polypeptide OTTMUSP00000030952 VEGA | MGI Sequence Detail 216 Not Applicable  
    For the selected sequence
    Polymorphisms
    less
    • SNPs within 2kb
      534 from dbSNP Build 142
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 47
      Genomic 2
      cDNA 42
      Primer pair 3

      Microarray probesets 4
    Other
    Accession IDs
    less
    MGD-MRK-16701, MGI:99905
    References
    more
    • Summaries
      All 38
      Developmental Gene Expression 3
      Diseases 1
      Gene Ontology 4
      Phenotypes 9
    • Earliest
      J:12009 George DL, et al., Amplified DNA in Y1 mouse adrenal tumor cells: isolation of cDNAs complementary to an amplified c-Ki-ras gene and localization of homologous sequences to mouse chromosome 6. Nucleic Acids Res. 1984 Mar 26;12(6):2731-43
    • Latest
      J:239326 Gibbs EM, et al., High levels of sarcospan are well tolerated and act as a sarcolemmal stabilizer to address skeletal muscle and pulmonary dysfunction in DMD. Hum Mol Genet. 2016 Dec 15;25(24):5395-5406

    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
    09/11/2018
    MGI 6.12
    The Jackson Laboratory