SMPX

Chr XXLDXLR

small muscle protein X-linked

Also known as: Chisel, Csl, DFN6, DFNX4, MPD7

NCBI Gene: 23676ENSG00000091482UniProt: Q9UHP9OMIM: 300226

The protein encoded by this gene is involved in coordinating muscle cell structural and functional states during growth, adaptation, and repair, and may help maintain inner ear cells under mechanical stress. Mutations cause X-linked deafness-4 and adult-onset distal myopathy, indicating involvement of both auditory and skeletal muscle systems. The gene shows X-linked inheritance with both dominant and recessive patterns reported.

GeneReviewsOMIMResearchSummary from RefSeq, OMIM, UniProt
XLD/XLRLOEUF 0.952 OMIM phenotypes
Clinical Summary— SMPX
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Gene-Disease Validity (ClinGen)
nonsyndromic genetic hearing loss · XLDefinitive

Definitive — sufficient evidence for diagnostic panels

⚡
Population Constraint (gnomAD)
Moderately constrained gene (pLI 0.62) — some intolerance to loss-of-function variants.
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ClinVar Variants
112 unique Pathogenic / Likely Pathogenic· 44 VUS of 200 total submissions
Explore recent and relevant literature in Research Assistant →
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GeneReview available — SMPX
Authoritative clinical overview · Recommended first read
Open GeneReview ↗

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Moderate LoF intolerance
LoF Constraint
0.95LOEUF
pLI 0.623
Z-score 1.63
OE 0.00 (0.00–0.95)
Moderately constrained

Typical tolerance to LoF variation

Missense Constraint
-0.04Z-score
OE missense 1.02 (0.78–1.36)
34 obs / 33.3 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios
LoF OE0.00 (0.00–0.95)
0≤0.351.4
Missense OE1.02 (0.78–1.36)
0≤0.61.4
Synonymous OE1.52
0≤1.21.6
LoF obs/exp: 0 / 3.1Missense obs/exp: 34 / 33.3Syn Z: -1.47

ClinVar Variant Classifications

200 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic102
Likely Pathogenic10
VUS44
Likely Benign21
Benign6
Conflicting3
102
Pathogenic
10
Likely Pathogenic
44
VUS
21
Likely Benign
6
Benign
3
Conflicting

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
6
4
92
0
102
Likely Pathogenic
8
0
2
0
10
VUS
2
26
16
0
44
Likely Benign
0
0
10
11
21
Benign
0
1
5
0
6
Conflicting
—3
Total163112511186

LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly

View in ClinVar →

Protein Context — Lollipop Plot

SMPX · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

3D Protein StructureAlphaFold

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →
Clinical Literature
Open Research Assistant →
Full-Text Mentions
NLP-detected gene mentions in article bodies · via PubTator3
PubTator3
Top 4 full-text resultsSearch PubTator3 ↗
Key Publications
Landmark & review papers · by relevance
PubMed
Top 5 results · since 2015Search PubMed ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC
Top 5 resultsSearch Europe PMC ↗

External Resources

Links to major genomics databases and tools

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients