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GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
SMPX
small muscle protein X-linked
Chromosome X Β· Xp22.12
NCBI Gene: 23676Ensembl: ENSG00000091482.9HGNC: HGNC:11122UniProt: Q9UHP9
24PubMed Papers
22Diseases
0Drugs
23Pathogenic Variants
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
muscle tendon junctionM bandcostamerestriated muscle contractionhearing loss, X-linked 4myopathy, distal, 7, adult-onset, X-linkedX-linked nonsyndromic hearing lossNon-syndromic genetic deafness
✦AI Summary

SMPX encodes a small cytoskeleton-associated protein (86-88 amino acids) preferentially expressed in cardiac and skeletal muscles, as well as in inner ear hair cells 1. The protein localizes to costameres and M bands, playing critical roles in coordinating muscle structural and functional states during growth, adaptation, and repair 2. Mechanistically, SMPX functions in cytoskeletal dynamics and mechanical stress responses, with MUSTN1 stabilizing SMPX to maintain myofiber morphology and promote myogenic differentiation 3. In inner ear mechanosensory cells, SMPX localizes to the cytoplasm and primary cilium of hair cells, where it is essential for proper hair cell differentiation and mechanotransduction activity 4. Loss-of-function mutations cause two clinically distinct phenotypes: X-linked progressive non-syndromic hearing loss through impaired hair cell kinocilia structure and mechanotransduction 5, and late-onset distal myopathy characterized by muscle weakness in hands/feet 6. Recent evidence suggests pathogenic mechanisms involving protein aggregation, stress granule dysregulation, and abnormal Rac1/p38 signaling 7. These findings establish SMPX as a pleiotropic gene with critical roles in both auditory and skeletal muscle homeostasis, expanding beyond its initial classification as a non-syndromic deafness gene.

Sources cited
1
SMPX identification, chromosomal mapping to Xp22.1, genomic structure with five exons, and preferential expression in heart and skeletal muscle
PMID: 10598820
2
SMPX encodes a cytoskeleton-associated protein highly expressed in cardiac/skeletal muscles and fetal inner ears with mechanotransductor roles
PMID: 32197943
3
MUSTN1 interacts with SMPX, stabilizes it, and promotes myogenic differentiation; SMPX promotion of myogenic differentiation depends on MUSTN1
PMID: 39828423
4
SMPX localizes throughout cytoplasm and primary cilium of neuromast hair cells; essential for hair cell differentiation and mechanotransduction activity
PMID: 38570547
5
SMPX-deficient zebrafish show decreased kinocilia number, stereocilia/kinocilium structural alterations, impaired hair cell mechanotransduction, and defective muscle fiber organization
PMID: 34204426
6
SMPX variants identified as cause of late-onset distal myopathy with weakness in hands/feet
PMID: 39017652
7
SMPX mutations cause disease through protein aggregation, stress granule dysregulation, and abnormal Rac1/p38 signaling pathways
PMID: 40947416
Disease Associationsβ“˜22
hearing loss, X-linked 4Open Targets
0.69Moderate
myopathy, distal, 7, adult-onset, X-linkedOpen Targets
0.62Moderate
X-linked nonsyndromic hearing lossOpen Targets
0.46Moderate
Non-syndromic genetic deafnessOpen Targets
0.39Weak
hearing lossOpen Targets
0.37Weak
nonsyndromic genetic hearing lossOpen Targets
0.37Weak
X-linked deafnessOpen Targets
0.33Weak
COVID-19Open Targets
0.33Weak
Hearing impairmentOpen Targets
0.30Weak
genetic disorderOpen Targets
0.15Weak
deafnessOpen Targets
0.11Weak
autosomal dominant nonsyndromic hearing lossOpen Targets
0.10Weak
hearing loss, autosomal recessiveOpen Targets
0.10Suggestive
autosomal recessive nonsyndromic hearing loss 9Open Targets
0.09Suggestive
cancerOpen Targets
0.08Suggestive
auditory neuropathy, autosomal dominant 3Open Targets
0.08Suggestive
autosomal recessive nonsyndromic hearing loss 1BOpen Targets
0.08Suggestive
neoplasmOpen Targets
0.07Suggestive
autosomal recessive nonsyndromic hearing loss 86Open Targets
0.07Suggestive
hearing loss, autosomal dominant 89Open Targets
0.07Suggestive
Deafness, X-linked, 4UniProt
Myopathy, distal, 7, adult-onset, X-linkedUniProt
Pathogenic Variants23
NM_014332.3(SMPX):c.99dup (p.Arg34fs)Pathogenic
not provided|Hearing loss, X-linked 4
β˜…β˜…β˜†β˜†2025β†’ Residue 34
NM_014332.3(SMPX):c.265T>C (p.Ter89Gln)Pathogenic
Hearing loss, X-linked 4
β˜…β˜†β˜†β˜†2025β†’ Residue 89
NM_014332.3(SMPX):c.45+1G>TPathogenic
Hearing loss, X-linked 4
β˜…β˜†β˜†β˜†2025
NM_014332.3(SMPX):c.45+1G>ALikely pathogenic
not provided
β˜…β˜†β˜†β˜†2024
NM_014332.3(SMPX):c.245del (p.Tyr82fs)Pathogenic
not provided
β˜…β˜†β˜†β˜†2024β†’ Residue 82
NM_014332.3(SMPX):c.233G>A (p.Ser78Asn)Pathogenic
not provided|Myopathy, distal, 7, adult-onset, X-linked
β˜…β˜†β˜†β˜†2022β†’ Residue 78
NM_014332.3(SMPX):c.130G>T (p.Glu44Ter)Pathogenic
not provided
β˜…β˜†β˜†β˜†2021β†’ Residue 44
NM_014332.3(SMPX):c.140del (p.Pro47fs)Likely pathogenic
Hearing impairment
β˜…β˜†β˜†β˜†2021β†’ Residue 47
NM_014332.3(SMPX):c.127G>T (p.Glu43Ter)Pathogenic
not provided
β˜…β˜†β˜†β˜†2020β†’ Residue 43
NM_014332.3(SMPX):c.29del (p.Asn10fs)Likely pathogenic
Hearing loss, X-linked 4
β˜…β˜†β˜†β˜†2017β†’ Residue 10
NM_014332.3(SMPX):c.109dup (p.Glu37fs)Likely pathogenic
SMPX-related disorder
β˜†β˜†β˜†β˜†2024β†’ Residue 37
NM_014332.3(SMPX):c.79C>G (p.Pro27Ala)Pathogenic
Myopathy, distal, 7, adult-onset, X-linked
β˜†β˜†β˜†β˜†2022β†’ Residue 27
NM_014332.3(SMPX):c.38C>T (p.Ala13Val)Pathogenic
Myopathy, distal, 7, adult-onset, X-linked
β˜†β˜†β˜†β˜†2022β†’ Residue 13
NM_014332.3(SMPX):c.19C>A (p.Pro7Thr)Pathogenic
Myopathy, distal, 7, adult-onset, X-linked
β˜†β˜†β˜†β˜†2022β†’ Residue 7
NM_014332.3(SMPX):c.87dup (p.Gly30fs)Pathogenic
X-linked deafness
β˜†β˜†β˜†β˜†2017β†’ Residue 30
NM_014332.3(SMPX):c.133-1G>ALikely pathogenic
Hearing loss, X-linked 4
β˜†β˜†β˜†β˜†2015
NM_014332.3(SMPX):c.99del (p.Arg34fs)Pathogenic
Hearing loss, X-linked 4
β˜†β˜†β˜†β˜†2013β†’ Residue 34
NM_014332.3(SMPX):c.130del (p.Glu44fs)Pathogenic
Hearing loss, X-linked 4
β˜†β˜†β˜†β˜†2011β†’ Residue 44
NM_014332.3(SMPX):c.214G>T (p.Glu72Ter)Pathogenic
Hearing loss, X-linked 4
β˜†β˜†β˜†β˜†2011β†’ Residue 72
NM_014332.3(SMPX):c.109G>T (p.Glu37Ter)Pathogenic
Hearing loss, X-linked 4
β˜†β˜†β˜†β˜†2011β†’ Residue 37
View on ClinVar β†—
Related Genes
ACTN2Protein interaction99%PRPS1L1Protein interaction97%PDK3Protein interaction91%ITGB1BP2Protein interaction91%PDHA1Protein interaction77%CSRP3Protein interaction74%
Tissue Expression6 tissues
Heart
100%
Brain
0%
Liver
0%
Ovary
0%
Lung
0%
Bone Marrow
0%
Gene Interaction Network
Click a node to explore
SMPXACTN2PRPS1L1PDK3ITGB1BP2PDHA1CSRP3
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted Β· UniProt Q9UHP9
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
0.99LoF Tolerant
pLIβ“˜
0.49Tolerant
Observed/Expected LoF0.32 [0.13–0.99]
RankingsWhere SMPX stands among ~20K protein-coding genes
  • #13,311of 20,598
    Most Researched24
  • #2,077of 5,498
    Most Pathogenic Variants23
  • #9,544of 17,882
    Most Constrained (LOEUF)0.99
Genes detectedSMPX
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
Identification, mapping, and genomic structure of a novel X-chromosomal human gene (SMPX) encoding a small muscular protein.
PMID: 10598820
Hum Genet Β· 1999
1.00
2
Expression pattern of the small muscle protein, X-linked (smpx) gene during zebrafish embryonic and larval developmental stages.
PMID: 32197943
Gene Expr Patterns Β· 2020
0.90
3
Current advance on distal myopathy genetics.
PMID: 39017652
Curr Opin Neurol Β· 2024
0.80
4
Novel mutation of SMPX-related scapuloperoneal myopathy and myofibrillar myopathy.
PMID: 39230604
Acta Neuropathol Β· 2024
0.70
5
MUSTN1 Interaction With SMPX Regulates Muscle Development and Regeneration.
PMID: 39828423
Cell Prolif Β· 2025
0.60