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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
  • Alliance
    gene page
  • Transcription Start Sites
    22 TSS
Location &
Maps
more
  • Sequence Map
    ChrX:156481969-156535587 bp, + strand
    From NCBI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome X, 72.67 cM
  • Mapping Data
    2 experiments
Strain
Comparison
more
  • SNPs within 2kb
    1056 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1913356
 protein coding gene ChrX:156481906-156535587 (+)
129S1/SvImJ MGP_129S1SvImJ_G0036220
 protein coding gene ChrX:155586138-155638220 (+)
A/J MGP_AJ_G0036190
 protein coding gene ChrX:154912432-154965900 (+)
AKR/J MGP_AKRJ_G0036118
 protein coding gene ChrX:159785662-159839378 (+)
BALB/cJ MGP_BALBcJ_G0036183
 protein coding gene ChrX:152965764-153017532 (+)
C3H/HeJ MGP_C3HHeJ_G0035889
 protein coding gene ChrX:155960388-156013936 (+)
C57BL/6NJ MGP_C57BL6NJ_G0036705
 protein coding gene ChrX:160198592-160251444 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0033526
 protein coding gene ChrX:146249374-146300927 (+)
CAST/EiJ MGP_CASTEiJ_G0035177
 protein coding gene ChrX:135053477-135107053 (+)
CBA/J MGP_CBAJ_G0035864
 protein coding gene ChrX:164775084-164831804 (+)
DBA/2J MGP_DBA2J_G0036030
 protein coding gene ChrX:153883320-153936855 (+)
FVB/NJ MGP_FVBNJ_G0035961
 protein coding gene ChrX:152973087-153026504 (+)
LP/J MGP_LPJ_G0036115
 protein coding gene ChrX:156761322-156813481 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0035993
 protein coding gene ChrX:173340668-173393538 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0036746
 protein coding gene ChrX:155140233-155193892 (+)
PWK/PhJ MGP_PWKPhJ_G0034875
 protein coding gene ChrX:132008592-132060811 (+)
SPRET/EiJ MGP_SPRETEiJ_G0034696
 protein coding gene ChrX:135532135-135584409 (+)
WSB/EiJ MGP_WSBEiJ_G0035312
 protein coding gene ChrX:153141814-153194907 (+)



Homology
more
  • Human Ortholog
    SMPX, small muscle protein X-linked
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    SMPX, small muscle protein X-linked
  • Synonyms
    Chisel, Csl, DFN6, DFNX4, MPD7
  • Links
    NCBI Gene ID: 23676
    neXtProt AC: NX_Q9UHP9
    UniProt: Q9UHP9

  • Chr Location
    Xp22.12; chrX:21705978-21758116 (-)  GRCh38
Human Diseases
more
  • Diseases
    1 with Smpx mouse models; 1 with human SMPX associations

Human Disease Mouse Models
      
IDs
 View 6 models
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    2 with disease annotations
  • References
    1 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    8 phenotypes from 3 alleles in 3 genetic backgrounds
    6 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 null mutation do not exhibit defects in heart or skeletal muscle morphology or development.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    9
  • GO References
    3
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
    980
  • Tissues
    133
  • cDNA Data
    46
  • Literature Summary
    33
Sequences &
Gene Models
less
Representative SequencesLengthStrain/SpeciesFlank
genomic 66106 NCBI Gene Model | MGI Sequence Detail 53619 C57BL/6J ±  kb
transcript NR_045569 RefSeq | MGI Sequence Detail 1145 C57BL/6  
polypeptide Q9DC77 UniProt | EBI | MGI Sequence Detail 85 Not Applicable  
For the selected sequence
Protein
Information
less
Molecular
Reagents
less
  • All nucleic 53
    Genomic 1
    cDNA 46
    Primer pair 2
    Other 4

    Microarray probesets 3
Other
Accession IDs
less
MGI:1927114
References
more
  • Summaries
    All 60
    Developmental Gene Expression 33
    Diseases 1
    Gene Ontology 3
    Phenotypes 6
  • 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:326541 Cyagen Biosciences Inc., Cyagen Biosciences Website. 2022;
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
12/17/2024
MGI 6.24 		The Jackson Laboratory