SMPX (small muscle protein X-linked)

2014-11-01  

Identity

HGNC
LOCATION
Xp22.12
LOCUSID
ALIAS
Chisel,Csl,DFN6,DFNX4
FUSION GENES

Other Information

Locus ID:

NCBI: 23676
MIM: 300226
HGNC: 11122
Ensembl: ENSG00000091482

Variants:

dbSNP: 23676
ClinVar: 23676
TCGA: ENSG00000091482
COSMIC: SMPX

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000091482ENST00000379494Q9UHP9
ENSG00000091482ENST00000379494A0A024RBY1
ENSG00000091482ENST00000494525Q9UHP9
ENSG00000091482ENST00000494525A0A024RBY1
ENSG00000091482ENST00000646008Q9UHP9
ENSG00000091482ENST00000646008A0A024RBY1

Expression (GTEx)

0
50
100
150
200
250
300
350

References

Pubmed IDYearTitleCitations
215493422011Next-generation sequencing identifies mutations of SMPX, which encodes the small muscle protein, X-linked, as a cause of progressive hearing impairment.37
215493362011Nonsense mutations in SMPX, encoding a protein responsive to physical force, result in X-chromosomal hearing loss.26
218931812011Variable degrees of hearing impairment in a Dutch DFNX4 (DFN6) family.5
229116562013A novel deletion in SMPX causes a rare form of X-linked progressive hearing loss in two families due to a founder effect.5
285425152017A novel frameshift mutation of SMPX causes a rare form of X-linked nonsyndromic hearing loss in a Chinese family.5
246870412014X-linked hearing loss: two gene mutation examples provide generalizable implications for clinical care.4
271813682016The nuclear receptor NOR-1 regulates the small muscle protein, X-linked (SMPX) and myotube differentiation.3
249369772014Overexpression of SMPX in adult skeletal muscle does not change skeletal muscle fiber type or size.2
314785982019Whole-exome sequencing identifies a donor splice-site variant in SMPX that causes rare X-linked congenital deafness.2
292878792018A novel splicing mutation in SMPX is linked to nonsyndromic progressive hearing loss.1

Citation

Dessen P

SMPX (small muscle protein X-linked)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/73591/smpx