The SMPX gene homepage

General information
Gene symbol SMPX
Gene name small muscle protein, X-linked
Chromosome X
Chromosomal band p22.2-p22.1
Imprinted Unknown
Genomic reference NG_031916.1
Transcript reference NM_014332.2
Exon/intron information NM_014332.2 exon/intron table
Associated with diseases deafness, DFNX, DFNX4
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) Mridul Johari
Total number of public variants reported 30
Unique public DNA variants reported 20
Individuals with public variants 129
Hidden variants 4
Download all this gene's data Download all data
Notes Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland.
Date created June 13, 2012
Date last updated November 17, 2022
Version SMPX:221117

Graphical displays and utilities
Graphs Graphs displaying summary information of all variants in the database »
Reading frame checker The Reading-frame checker generates a prediction of the effect of whole-exon changes. Active for: NM_014332.2.
UCSC Genome Browser Show variants in the UCSC Genome Browser (full view, compact view)
Ensembl Genome Browser Show variants in the Ensembl Genome Browser (full view, compact view)
NCBI Sequence Viewer Show distribution histogram of variants in the NCBI Sequence Viewer

Links to other resources
Homepage URL
HGNC 11122
Entrez Gene 23676
PubMed articles SMPX
OMIM - Gene 300226
OMIM - Diseases DFNX4 (deafness, X-linked, type 4 (DFNX4))
GeneCards SMPX
GeneTests SMPX
Orphanet SMPX

Active transcripts




NCBI ID     

NCBI Protein ID     

00025616 X transcript variant 1 NM_014332.2 NP_055147.1 30

Copyright & disclaimer
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