SMPX (small muscle protein X-linked)

2014-11-01  

Identity

HGNC
SMPX
LOCATION
Xp22.12
LOCUSID
23676
ALIAS
Chisel,Csl,DFN6,DFNX4
FUSION GENES
Show Gene Fusions

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
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

References

Pubmed IDYearTitleCitations
339741372021Missense mutations in small muscle protein X-linked (SMPX) cause distal myopathy with protein inclusions.3
339741372021Missense mutations in small muscle protein X-linked (SMPX) cause distal myopathy with protein inclusions.3
315836912020In silico analysis of nonsynonymous single-nucleotide polymorphisms (nsSNPs) of the SMPX gene.12
315836912020In silico analysis of nonsynonymous single-nucleotide polymorphisms (nsSNPs) of the SMPX gene.12
314785982019Whole-exome sequencing identifies a donor splice-site variant in SMPX that causes rare X-linked congenital deafness.8
314785982019Whole-exome sequencing identifies a donor splice-site variant in SMPX that causes rare X-linked congenital deafness.8
292878792018A novel splicing mutation in SMPX is linked to nonsyndromic progressive hearing loss.5
295597402018A novel mutation in the SMPX gene associated with X-linked nonsyndromic sensorineural hearing loss in a Chinese family.5
292878792018A novel splicing mutation in SMPX is linked to nonsyndromic progressive hearing loss.5
295597402018A novel mutation in the SMPX gene associated with X-linked nonsyndromic sensorineural hearing loss in a Chinese family.5
285425152017A novel frameshift mutation of SMPX causes a rare form of X-linked nonsyndromic hearing loss in a Chinese family.9
285425152017A novel frameshift mutation of SMPX causes a rare form of X-linked nonsyndromic hearing loss in a Chinese family.9
271813682016The nuclear receptor NOR-1 regulates the small muscle protein, X-linked (SMPX) and myotube differentiation.7
271813682016The nuclear receptor NOR-1 regulates the small muscle protein, X-linked (SMPX) and myotube differentiation.7
246870412014X-linked hearing loss: two gene mutation examples provide generalizable implications for clinical care.5

Citation

Dessen P

SMPX (small muscle protein X-linked)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

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