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Aliases for SMPX Gene

Aliases for SMPX Gene

  • Small Muscle Protein, X-Linked 2 3
  • Stretch-Responsive Skeletal Muscle Protein 3 4
  • Deafness, X-Linked 6, Sensorineural 2 3
  • DFNX4 3 6
  • Small Muscular Protein 3
  • DFN6 3
  • SRMX 4

External Ids for SMPX Gene

Previous HGNC Symbols for SMPX Gene

  • DFN6

Previous GeneCards Identifiers for SMPX Gene

  • GC0XM020298
  • GC0XM020922
  • GC0XM021085
  • GC0XM021483
  • GC0XM019465

Summaries for SMPX Gene

Entrez Gene Summary for SMPX 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 spliced transcript variants have been observed for this gene. [provided by RefSeq, Dec 2011]

GeneCards Summary for SMPX Gene

SMPX (Small Muscle Protein, X-Linked) is a Protein Coding gene. Diseases associated with SMPX include deafness, x-linked 4 and dfnx4 nonsyndromic hearing loss and deafness.

UniProtKB/Swiss-Prot for SMPX Gene

  • Plays a role in the regulatory network through which muscle cells coordinate their structural and functional states during growth, adaptation, and repair.

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SMPX Gene

Genomics for SMPX Gene

Regulatory Elements for SMPX Gene

Genomic Location for SMPX Gene

Start:
21,705,972 bp from pter
End:
21,758,163 bp from pter
Size:
52,192 bases
Orientation:
Minus strand

Genomic View for SMPX Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for SMPX Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SMPX Gene

Proteins for SMPX Gene

  • Protein details for SMPX Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9UHP9-SMPX_HUMAN
    Recommended name:
    Small muscular protein
    Protein Accession:
    Q9UHP9
    Secondary Accessions:
    • B1AWX2

    Protein attributes for SMPX Gene

    Size:
    88 amino acids
    Molecular mass:
    9559 Da
    Quaternary structure:
    No Data Available

neXtProt entry for SMPX Gene

Proteomics data for SMPX Gene at MOPED

Post-translational modifications for SMPX Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for SMPX Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for SMPX Gene

Domains for SMPX Gene

Protein Domains for SMPX Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for SMPX Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9UHP9

UniProtKB/Swiss-Prot:

SMPX_HUMAN :
  • Q9UHP9
Family:
  • Belongs to the SMPX family.
genes like me logo Genes that share domains with SMPX: view

No data available for Gene Families for SMPX Gene

Function for SMPX Gene

Molecular function for SMPX Gene

GENATLAS Biochemistry: striated muscle protein X,expressed in muscle and heart
UniProtKB/Swiss-Prot Function: Plays a role in the regulatory network through which muscle cells coordinate their structural and functional states during growth, adaptation, and repair.

Phenotypes for SMPX Gene

MGI mutant phenotypes for SMPX:
inferred from 2 alleles
GenomeRNAi human phenotypes for SMPX:
genes like me logo Genes that share phenotypes with SMPX: view

Animal Models for SMPX Gene

MGI Knock Outs for SMPX:

Animal Model Products

CRISPR Products

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for SMPX

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , miRNA , Transcription Factor Targeting and HOMER Transcription for SMPX Gene

Localization for SMPX Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for SMPX Gene COMPARTMENTS Subcellular localization image for SMPX gene
Compartment Confidence
nucleus 2
mitochondrion 1

Gene Ontology (GO) - Cellular Components for SMPX Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
GO:0005737 cytoplasm --
GO:0005927 muscle tendon junction IEA --
GO:0031430 M band IEA --
GO:0043034 costamere IEA --
genes like me logo Genes that share ontologies with SMPX: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for SMPX Gene

Pathways for SMPX Gene

SuperPathways for SMPX Gene

No Data Available

Interacting Proteins for SMPX Gene

Gene Ontology (GO) - Biological Process for SMPX Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006941 striated muscle contraction TAS 10598820
genes like me logo Genes that share ontologies with SMPX: view

No data available for Pathways by source for SMPX Gene

Compounds for SMPX Gene

(1) Novoseek inferred chemical compound relationships for SMPX Gene

Compound -log(P) Hits PubMed IDs
hydrogen 0 1
genes like me logo Genes that share compounds with SMPX: view

Transcripts for SMPX Gene

mRNA/cDNA for SMPX Gene

Unigene Clusters for SMPX Gene

Small muscle protein, X-linked:
Representative Sequences:

CRISPR Products

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for SMPX

Primer Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for SMPX Gene

No ASD Table

Relevant External Links for SMPX Gene

GeneLoc Exon Structure for
SMPX
ECgene alternative splicing isoforms for
SMPX

Expression for SMPX Gene

mRNA expression in normal human tissues for SMPX Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for SMPX Gene

This gene is overexpressed in Heart - Left Ventricle (21.5), Muscle - Skeletal (14.2), and Heart - Atrial Appendage (13.1).

Integrated Proteomics: protein expression from ProteomicsDB and MOPED for SMPX Gene

SOURCE GeneReport for Unigene cluster for SMPX Gene Hs.86492

mRNA Expression by UniProt/SwissProt for SMPX Gene

Q9UHP9-SMPX_HUMAN
Tissue specificity: Preferentially and abundantly expressed in heart and skeletal muscle
genes like me logo Genes that share expressions with SMPX: view

In Situ Assay Products

Orthologs for SMPX Gene

This gene was present in the common ancestor of chordates.

Orthologs for SMPX Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia SMPX 35
  • 100 (n)
  • 100 (a)
SMPX 36
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia SMPX 35
  • 93.02 (n)
  • 97.67 (a)
SMPX 36
  • 98 (a)
OneToOne
dog
(Canis familiaris)
Mammalia SMPX 35
  • 91.09 (n)
  • 96.51 (a)
SMPX 36
  • 95 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Smpx 35
  • 83.53 (n)
  • 85.88 (a)
Smpx 16
Smpx 36
  • 86 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia SMPX 36
  • 84 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia SMPX 36
  • 86 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Smpx 35
  • 80 (n)
  • 82.35 (a)
chicken
(Gallus gallus)
Aves SMPX 35
  • 76.74 (n)
  • 81.4 (a)
SMPX 36
  • 80 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia SMPX 36
  • 77 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia MGC64235 35
tropical clawed frog
(Silurana tropicalis)
Amphibia smpx 35
  • 75.69 (n)
  • 78.82 (a)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.8500 35
zebrafish
(Danio rerio)
Actinopterygii smpx 35
  • 67.89 (n)
  • 71.95 (a)
smpx 36
  • 70 (a)
OneToOne
Species with no ortholog for SMPX:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for SMPX Gene

ENSEMBL:
Gene Tree for SMPX (if available)
TreeFam:
Gene Tree for SMPX (if available)

Paralogs for SMPX Gene

No data available for Paralogs for SMPX Gene

Variants for SMPX Gene

Sequence variations from dbSNP and Humsavar for SMPX Gene

SNP ID Clin Chr 0X pos Sequence Context AA Info Type MAF
rs723833 -- 21,736,628(-) CAATC(A/G)ATATT intron-variant
rs743626 -- 21,741,882(-) GCCAC(A/G)TATAC intron-variant
rs743627 -- 21,742,011(-) CAAGT(A/G)TCTCA intron-variant
rs1015473 -- 21,731,303(+) tcctg(C/G)acagt intron-variant
rs1015474 -- 21,731,307(+) ggaca(A/G)tgttc intron-variant

Relevant External Links for SMPX Gene

HapMap Linkage Disequilibrium report
SMPX
Human Gene Mutation Database (HGMD)
SMPX

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Structural Variations from Database of Genomic Variants (DGV) for SMPX Gene

Disorders for SMPX Gene

(1) OMIM Diseases for SMPX Gene (300226)

UniProtKB/Swiss-Prot

SMPX_HUMAN
  • Deafness, X-linked, 4 (DFNX4) [MIM:300066]: A non-syndromic form of sensorineural, progressive hearing loss with postlingual onset. In affected males, the auditory impairment affects initially high-frequency hearing. It later evolves to become severe to profound and affects all frequencies. Carrier females manifest moderate hearing impairment in the high frequencies. {ECO:0000269 PubMed:21549336, ECO:0000269 PubMed:21549342, ECO:0000269 PubMed:22911656}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(1) Novoseek inferred disease relationships for SMPX Gene

Disease -log(P) Hits PubMed IDs
immunodeficiency 0 3
genes like me logo Genes that share disorders with SMPX: view

Publications for SMPX Gene

  1. Identification of a novel stretch-responsive skeletal muscle gene (Smpx). (PMID: 11401441) Kemp T.J. … Coulton G.R. (Genomics 2001) 3 4 23
  2. Identification, mapping, and genomic structure of a novel X- chromosomal human gene (SMPX) encoding a small muscular protein. (PMID: 10598820) Patzak D. … Wehnert M. (Hum. Genet. 1999) 3 4 23
  3. Nonsense mutations in SMPX, encoding a protein responsive to physical force, result in X-chromosomal hearing loss. (PMID: 21549336) Huebner A.K. … Kurth I. (Am. J. Hum. Genet. 2011) 3 4
  4. Next-generation sequencing identifies mutations of SMPX, which encodes the small muscle protein, X-linked, as a cause of progressive hearing impairment. (PMID: 21549342) Schraders M. … Kremer H. (Am. J. Hum. Genet. 2011) 3 4
  5. Variable degrees of hearing impairment in a Dutch DFNX4 (DFN6) family. (PMID: 21893181) Weegerink N.J. … Kunst H.P. (Hear. Res. 2011) 2 3

Products for SMPX Gene

Sources for SMPX Gene

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