Property Summary

NCBI Gene PubMed Count 13
PubMed Score 14.91
PubTator Score 13.33

Knowledge Summary


No data available



  Differential Expression (10)

Disease log2 FC p
astrocytic glioma -1.700 2.0e-02
ependymoma -1.700 3.5e-02
oligodendroglioma -1.700 1.7e-02
glioblastoma -1.200 1.7e-04
group 3 medulloblastoma -1.800 3.8e-03
primitive neuroectodermal tumor -1.900 6.7e-04
colon cancer -3.700 2.4e-06
lung cancer 1.400 2.2e-04
pediatric high grade glioma -1.100 1.8e-03
pilocytic astrocytoma -1.300 1.8e-04


Accession Q9UHP9 B1AWX2
Symbols DFN6


  Ortholog (1)

Species Source Disease
Chimp OMA EggNOG

Gene RIF (6)

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

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.
11401441 2001 Identification of a novel stretch-responsive skeletal muscle gene (Smpx).
10598820 1999 Identification, mapping, and genomic structure of a novel X-chromosomal human gene (SMPX) encoding a small muscular protein.
8889548 1996 Normalization and subtraction: two approaches to facilitate gene discovery.
8872482 1996 A novel locus for non-syndromic sensorineural deafness (DFN6) maps to chromosome Xp22.