SMPX (small muscle protein X-linked)

Gene Gene information from NCBI Gene database.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID 23676
Gene name Small muscle protein X-linked
Gene symbol SMPX
Synonyms (NCBI Gene)
ChiselCslDFN6DFNX4MPD7
Chromosome X
Chromosome location Xp22.12
Summary This gene encodes a small protein that has no known functional domains. Mutations in this gene are a cause of X-linked deafness-4, and the encoded protein may play a role in the maintenance of inner ear cells subjected to mechanical stress. Alternatively
SNPs SNP information provided by dbSNP.
7
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all (7)
SNP ID Visualize variation Clinical significance Consequence
rs387906706 C>A Pathogenic Non coding transcript variant, stop gained, coding sequence variant
rs387906707 C>A Pathogenic Non coding transcript variant, stop gained, coding sequence variant
rs387906708 C>A Pathogenic Non coding transcript variant, stop gained, coding sequence variant
rs398122848 C>- Pathogenic Non coding transcript variant, frameshift variant, coding sequence variant
rs398122930 G>-,GG Likely-pathogenic, pathogenic Non coding transcript variant, frameshift variant, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
1
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all (1)
miRTarBase ID miRNA Experiments Reference
MIRT2111374 hsa-miR-1972 CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
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Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all (10)
GO ID Ontology Definition Evidence Reference
GO:0005634 Component Nucleus IEA
GO:0005737 Component Cytoplasm IEA
GO:0005927 Component Muscle tendon junction IBA
GO:0005927 Component Muscle tendon junction IEA
GO:0006941 Process Striated muscle contraction TAS 10598820
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
300226 11122 ENSG00000091482
Protein Protein information from UniProt database.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9UHP9
Protein name Small muscular protein (Stretch-responsive skeletal muscle protein)
Protein function Plays a role in the regulatory network through which muscle cells coordinate their structural and functional states during growth, adaptation, and repair.
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF15355 Chisel 3 → 87 Stretch-responsive small skeletal muscle X protein, Chisel Family
Tissue specificity TISSUE SPECIFICITY: Preferentially and abundantly expressed in heart and skeletal muscle.
Sequence
Sequence length 88
Interactions View interactions
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
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Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide Causal Diseases (4)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Hearing impairment Likely pathogenic rs2147387122 RCV001375371
Hearing loss, X-linked 4 Likely pathogenic; Pathogenic rs2147390444, rs2519503836, rs387906706, rs387906707, rs387906708, rs398122848, rs1060499590, rs398122930, rs2092830420 RCV002051748
RCV003881672
RCV000022837
RCV000022838
RCV000022839
RCV000022840
RCV000477909
RCV000033153
RCV001253092
Myopathy, distal, 7, adult-onset, X-linked Pathogenic rs2147387003, rs2147390527, rs2147396459, rs770287561 RCV002221692
RCV002221982
RCV002221983
RCV002221984
X-linked deafness Pathogenic rs1569308571 RCV000626484
Show/Hide Unknown Diseases (3)
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Malignant tumor of esophagus Benign rs5951625 RCV005923223
Sarcoma Benign rs5951625 RCV005923224
SMPX-related disorder Conflicting classifications of pathogenicity rs199907508 RCV003957879
Show/Hide Text Mining Associations (9)
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
3 Hydroxy 3 Methylglutaryl CoA Lyase Deficiency Associate 31478598
Deafness Associate 28542515, 31478598, 31992338, 34052664
Deafness X Linked 4 Associate 34052664
Distal Myopathies Associate 33974137
Hearing Loss Associate 28542515, 31478598, 34052664, 39272213
Muscular Diseases Associate 39272213
Neoplastic Syndromes Hereditary Associate 39272213
Nonsyndromic Deafness Associate 28542515
Progressive hearing loss stapes fixation Associate 31478598