Property Summary

NCBI Gene PubMed Count 13
PubMed Score 14.91
PubTator Score 13.33

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (10)

Disease log2 FC p
astrocytic glioma -1.700 0.020
ependymoma -1.700 0.035
oligodendroglioma -1.700 0.017
glioblastoma -1.200 0.000
group 3 medulloblastoma -1.800 0.004
primitive neuroectodermal tumor -1.900 0.001
colon cancer -3.700 0.000
lung cancer 1.400 0.000
pediatric high grade glioma -1.100 0.002
pilocytic astrocytoma -1.300 0.000

Gene RIF (6)

PMID Text
24936977 SMPX is localized predominantly in repetitive double stripes flanking the Z-disc, and not present in nuclei.
24687041 Audiological, medical, and family histories were collected and family members interviewed to compare hearing thresholds and case histories between cases with mutations in SMPX versus POU3F4.
22911656 Data indicate founder mutation in exon 3 (c.99delC) of SMPX that cosegregates in two Newfoundland families.
21893181 Demonstrate phenotypic heterogeneity in large family with an X-linked pattern of inherited sensorineural hearing impairment with SMPX mutations.
21549342 This study identifies SMPX as a gene in which variation is associated with X-linked deafness and illustrates that NGS is instrumental in the efficient identification of disease-causing variants in unexpected genes.
21549336 Our study identified mutations in SMPX in patients with X-chromosomal hearing impairment and suggested that the stress response of mechanically challenged inner-ear cells might critically depend on SMPX function.

AA Sequence

MNMSKQPVSNVRAIQANINIPMGAFRPGAGQPPRRKECTPEVEEGVPPTSDEEKKPIPGAKKLPGPAVNL      1 - 70
SEIQNIKSELKYVPKAEQ                                                         71 - 88
//

Text Mined References (14)

PMID Year Title
24936977 2014 Overexpression of SMPX in adult skeletal muscle does not change skeletal muscle fiber type or size.
24687041 2014 X-linked hearing loss: two gene mutation examples provide generalizable implications for clinical care.
22911656 2013 A novel deletion in SMPX causes a rare form of X-linked progressive hearing loss in two families due to a founder effect.
21893181 2011 Variable degrees of hearing impairment in a Dutch DFNX4 (DFN6) family.
21549342 2011 Next-generation sequencing identifies mutations of SMPX, which encodes the small muscle protein, X-linked, as a cause of progressive hearing impairment.
21549336 2011 Nonsense mutations in SMPX, encoding a protein responsive to physical force, result in X-chromosomal hearing loss.
15772651 2005 The DNA sequence of the human X chromosome.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
14702039 2004 Complete sequencing and characterization of 21,243 full-length human cDNAs.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
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