SMPX (small muscle protein X-linked)

Gene
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
23676
Gene name Gene Name - the full gene name approved by the HGNC.
Small muscle protein X-linked
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
SMPX
Synonyms (NCBI Gene) Gene synonyms aliases
Chisel, Csl, DFN6, DFNX4, MPD7
Chromosome Chromosome number
X
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
Xp22.12
Summary Summary of gene provided in NCBI Entrez Gene.
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.
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.
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 information of associated ontologies with gene provided by GO database.
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 ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
300226 11122 ENSG00000091482
Protein
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
UniProt ID 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
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide Causal Diseases (2)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Hearing Loss Hearing loss, X-linked 4 rs387906706, rs387906707, rs387906708, rs398122848, rs398122930, rs1060499590 N/A
Deafness X-linked deafness rs1569308571 N/A
Show/Hide Unknown Diseases (1)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Myopathy myopathy, distal, 7, adult-onset, X-linked N/A N/A GenCC
Show/Hide Text Mining Associations (9)
Associations from Text Mining Disease 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