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Smpx Gene Detail
Summary
  • Symbol
    Smpx
  • Name
    small muscle protein, X-linked
  • Synonyms
    1010001C09Rik, chisel, Csl
  • Feature Type
    protein coding gene
  • IDs
    MGI:1913356
    NCBI Gene: 66106
Location & Maps
more
  • Sequence Map
    ChrX:157698910-157752591 bp, + strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      53682 bp   ±  kb flank

  • Genome Browsers
Homology
more
  • Human Ortholog
    SMPX, small muscle protein, X-linked
  • Vertebrate Orthologs
    10
  • Human Ortholog
    SMPX, small muscle protein, X-linked
    Orthology source: HomoloGene
  • Synonyms
    DFN6, DFNX4
  • Links
    NCBI Gene ID: 23676
    neXtProt AC: NX_Q9UHP9

  • Chr Location
    Xp22.1; chrX:21705972-21758160 (-)  GRCh38.p2

  • HomoloGene
    Vertebrate Homology Class 8640
    1 human;1 mouse;1 rat;1 chimpanzee;1 rhesus macaque;1 cattle;1 dog;1 chicken;1 western clawed frog;1 zebrafish
  • HCOP
    human homology predictions: SMPX
  • Gene Tree
Human Diseases
more
  • Diseases
    1 with human SMPX associations

Human Disease Mouse Models
       Deafness, X-Linked 4; DFNX4   OMIM: 300066
Click on a disease name to see all genes associated with that disease.

Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    1 phenotype from 1 allele in 1 genetic background
    3 phenotype references
  • All Mutations and Alleles
    3
  • Gene trapped
    1
  • Targeted
    2
Mice homozygous for a null mutation do not exhibit defects in heart or skeletal muscle morphology or development.
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 OTTMUSG00000019394 VEGA Gene Model | MGI Sequence Detail 53682 C57BL/6J ±  kb
transcript OTTMUST00000046281 VEGA | MGI Sequence Detail 1152 Not Applicable  
polypeptide OTTMUSP00000041453 VEGA | MGI Sequence Detail 85 Not Applicable  
For the selected sequence
Polymorphisms
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  • SNPs within 2kb
    265 from dbSNP Build 142
Protein
Information
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  • UniProt
    3 Sequences
  • Protein Ontology
    PR:000015298 small muscular protein
  • InterPro Domains
    IPR029268 Small muscular protein Chisel
Molecular
Reagents
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  • All nucleic 48
    cDNA 45
    Primer pair 1
    Other 2

    Microarray probesets 3
Other
Accession IDs
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MGI:1927114
References
more
  • Summaries
    All 53
    Developmental Gene Expression 30
    Gene Ontology 3
    Phenotypes 3
  • Earliest
    J:69167 Patzak D, et al., Identification, mapping, and genomic structure of a novel X-chromosomal human gene (SMPX) encoding a small muscular protein. Hum Genet. 1999 Nov;105(5):506-12
  • Latest
    J:218858 Eftestol E, et al., Overexpression of SMPX in adult skeletal muscle does not change skeletal muscle fiber type or size. PLoS One. 2014;9(6):e99232

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
05/17/2016
MGI 6.03
The Jackson Laboratory