SMPX Gene (Protein Coding)

Small Muscle Protein X-Linked

GC0XM021706
GIFtS:
37
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] See more...

Aliases for SMPX Gene

Aliases for SMPX Gene

  • Small Muscle Protein X-Linked 2 3 5
  • Stretch-Responsive Skeletal Muscle Protein 3 4
  • Deafness, X-Linked 6, Sensorineural 2 3
  • Small Muscular Protein 3 4
  • Chisel 2 3
  • DFNX4 2 3
  • Csl 2 3
  • DFN6 3
  • SMPX 5
  • SRMX 4

External Ids for SMPX Gene

Previous HGNC Symbols for SMPX Gene

  • DFN6

Previous GeneCards Identifiers for SMPX Gene

  • GC0XM020298
  • GC0XM020922
  • GC0XM021085
  • GC0XM021483
  • GC0XM021634
  • 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 X-Linked Non-Syndromic Sensorineural Deafness Type Dfn.

UniProtKB/Swiss-Prot Summary 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.

Additional gene information for SMPX Gene

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for SMPX Gene

Genomics for SMPX Gene

GeneHancer (GH) Regulatory Elements Pubs

Download GeneHancer 2017 data
Promoters and enhancers for SMPX Gene
GeneHancer (GH) Identifier GH Type GH
Score		 GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites		 Gene Targets
GH0XJ021756 Promoter/Enhancer 1 EPDnew Ensembl ENCODE 250.7 +1.5 1469 4.1 HLF CTCF SMPX lnc-SMPX-3 YY2 piR-60112-010 KLHL34
GH0XJ021740 Enhancer 1 Ensembl ENCODE 0.4 +17.2 17203 2.6 FEZF1 ZNF639 SMAD4 RXRA RARA ZNF843 TEAD3 FOXA2 PRDM6 JUND YY2 SMPX lnc-SMPX-3 piR-60112-010 KLHL34
GH0XJ021770 Enhancer 0.7 ENCODE 0.4 -12.7 -12686 1.3 ZIC2 ZNF639 SAP130 ZNF341 CTCF GLI4 NFE2L2 RBPJ GLIS1 POLR2A YY2 piR-35674-554 piR-43105-689 SMPX MBTPS2
GH0XJ021738 Enhancer 0.8 ENCODE 0.4 +19.4 19398 0.2 FEZF1 ZIC2 ZNF843 SP2 ZNF2 ZSCAN23 ZFP37 ZNF24 ZNF189 TAF1 SMPX lnc-SMPX-3 piR-60112-010 KLHL34
GH0XJ021798 Enhancer 1 Ensembl ENCODE 0.3 -41.7 -41725 3.1 FEZF1 ZNF639 SMAD4 RARA ZNF843 STAT3 BCL6 JUND FOSL1 USF2 YY2 lnc-MBTPS2-2 piR-43105-689 MBTPS2 SMPX
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around SMPX on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for SMPX

Top Transcription factor binding sites by QIAGEN in the SMPX gene promoter:
  • C/EBPbeta
  • FOXL1
  • FOXO1
  • POU2F1
  • POU2F1a
  • POU3F1
  • PPAR-gamma1
  • PPAR-gamma2
  • RSRFC4
  • STAT5B

Genomic Locations for SMPX Gene

Latest Assembly
chrX:21,705,978-21,758,116
(GRCh38/hg38)
Size:
52,139 bases
Orientation:
Minus strand

Previous Assembly
chrX:21,724,096-21,776,234
(GRCh37/hg19 by Entrez Gene)
Size:
52,139 bases
Orientation:
Minus strand

chrX:21,724,090-21,776,281
(GRCh37/hg19 by Ensembl)
Size:
52,192 bases
Orientation:
Minus strand

Genomic View for SMPX Gene

Genes around SMPX on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SMPX Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SMPX Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for SMPX Gene

Proteins for SMPX Gene

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  1. Antibodies for research
  2. Protein products for research
  3. Assay products for research

  • 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

Protein Expression for SMPX Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

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 & Families for SMPX Gene

Gene Families for SMPX Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted intracellular proteins

Protein Domains for SMPX Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for SMPX Gene

GenScript: Design optimal peptide antigens:
  • Stretch-responsive skeletal muscle protein (SMPX_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9UHP9

UniProtKB/Swiss-Prot:

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

Function for SMPX Gene

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  1. Animal Models for research
  2. CRISPR products for research
  3. miRNA products for research
  4. Inhibitory RNAs for research
  5. Clone products for research
  6. Cell Lines for research

Molecular function for SMPX Gene

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.
GENATLAS Biochemistry:
striated muscle protein X,expressed in muscle and heart
genes like me logo Genes that share phenotypes with SMPX: view

Human Phenotype Ontology for SMPX Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for SMPX Gene

MGI Knock Outs for SMPX:

Animal Models for research

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SMPX

No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , Gene Ontology (GO) - Molecular Function , miRNA , Transcription Factor Targets and HOMER Transcription for SMPX Gene

Localization for SMPX Gene

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for SMPX gene
Compartment Confidence
nucleus 3
plasma membrane 1
extracellular 1
cytoskeleton 1
mitochondrion 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Plasma membrane (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for SMPX Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
GO:0005737 cytoplasm IEA --
GO:0005927 muscle tendon junction IBA 21873635
GO:0031430 M band IBA 21873635
GO:0043034 costamere IBA 21873635
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 & Interactions for SMPX Gene

PathCards logo

SuperPathways for SMPX Gene

No Data Available

Interacting Proteins for SMPX Gene

STRING Interaction Network Preview (showing top 3 STRING interactants - click image to see details)
STRING Interaction Network
Selected Interacting proteins: ENSP00000368808 Q9UHP9-SMPX_HUMAN for SMPX Gene via STRING IID

GPS-Prot Interaction Network for SMPX

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 and SIGNOR curated interactions for SMPX Gene

Drugs & Compounds for SMPX Gene

Products:

  1. Drug products for research

(1) Drugs for SMPX Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
genes like me logo Genes that share compounds with SMPX: view

Transcripts for SMPX Gene

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  1. CRISPR products for research
  2. miRNA products for research
  3. Inhibitory RNAs for research
  4. Clone products for research

mRNA/cDNA for SMPX Gene

1 REFSEQ mRNAs :
6 NCBI additional mRNA sequence :
3 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SMPX

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

No ASD Table

Relevant External Links for SMPX Gene

GeneLoc Exon Structure for
SMPX

Expression for SMPX Gene

Products:

  1. Primer products for research
  2. Gene Expression Assays for research

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for SMPX Gene

mRNA expression in normal human tissues for SMPX Gene
mRNA expression by GTEx for SMPX GenemRNA expression by BioGPS 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 (x21.5), Muscle - Skeletal (x14.2), and Heart - Atrial Appendage (x13.1).

Protein differential expression in normal tissues from HIPED for SMPX Gene

This gene is overexpressed in Tonsil (27.0), Heart (15.2), Fetal heart (12.4), and Oral epithelium (8.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for SMPX Gene



Protein tissue co-expression partners for SMPX Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for SMPX

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.

Evidence on tissue expression from TISSUES for SMPX Gene

  • Muscle(4.6)
  • Nervous system(4.2)
  • Heart(3)

Phenotype-based relationships between genes and organs from Gene ORGANizer for SMPX Gene

Germ Layers:
  • ectoderm
Systems:
  • nervous
Regions:
Head and neck:
  • brain
  • cranial nerve
  • ear
  • head
  • inner ear
General:
  • peripheral nervous system
genes like me logo Genes that share expression patterns with SMPX: view

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 30 31
  • 100 (n)
 OneToOne
Cow
(Bos Taurus)
 Mammalia SMPX 30 31
  • 93.02 (n)
 OneToOne
Dog
(Canis familiaris)
 Mammalia SMPX 30 31
  • 91.09 (n)
 OneToOne
Platypus
(Ornithorhynchus anatinus)
 Mammalia SMPX 31
  • 86 (a)
 OneToOne
Oppossum
(Monodelphis domestica)
 Mammalia SMPX 31
  • 84 (a)
 OneToOne
Mouse
(Mus musculus)
 Mammalia Smpx 30 17 31
  • 83.53 (n)
 OneToOne
Rat
(Rattus norvegicus)
 Mammalia Smpx 30
  • 80 (n)
Chicken
(Gallus gallus)
 Aves SMPX 30 31
  • 76.74 (n)
 OneToOne
Lizard
(Anolis carolinensis)
 Reptilia SMPX 31
  • 77 (a)
 OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
 Amphibia smpx 30
  • 75.69 (n)
African clawed frog
(Xenopus laevis)
 Amphibia MGC64235 30
Zebrafish
(Danio rerio)
 Actinopterygii smpx 30 31
  • 67.89 (n)
 OneToOne
Rainbow Trout
(Oncorhynchus mykiss)
 Actinopterygii Omy.8500 30
Species where no ortholog for SMPX was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (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)
Aminode:
Evolutionary constrained regions (ECRs) for SMPX: view image

Paralogs for SMPX Gene

No data available for Paralogs for SMPX Gene

Variants for SMPX Gene

Products:

  1. SNP Genotyping and Copy Number Assays for research

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for SMPX Gene

SNP ID Clinical significance and condition Chr 0X pos Variation AA Info Type
913387 Uncertain Significance: Deafness, X-linked 4 21,706,177(-) A/C
NM_014332.3(SMPX):c.*232T>G 		NON_CODING_TRANSCRIPT_VARIANT,THREE_PRIME_UTR
913388 Uncertain Significance: Deafness, X-linked 4 21,706,228(-) T/C
NM_014332.3(SMPX):c.*181A>G 		NON_CODING_TRANSCRIPT_VARIANT,THREE_PRIME_UTR
914501 Uncertain Significance: Deafness, X-linked 4 21,758,032(-) G/A
NM_014332.3(SMPX):c.-103C>T 		NON_CODING_TRANSCRIPT_VARIANT,FIVE_PRIME_UTR
975949 Likely Pathogenic: Deafness, X-linked 4 21,754,261(-) AT/A
NM_014332.3(SMPX):c.29del (p.Asn10fs) 		FRAMESHIFT_VARIANT,NON_CODING_TRANSCRIPT
987023 Pathogenic: not provided 21,743,755(-) C/A
NM_014332.3(SMPX):c.127G>T (p.Glu43Ter) 		NONSENSE,NON_CODING_TRANSCRIPT

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for SMPX Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for SMPX Gene

Variant ID Type Subtype PubMed ID
nsv1143245 CNV tandem duplication 24896259

Variation tolerance for SMPX Gene

Residual Variation Intolerance Score: 60.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.10; 2.23% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for SMPX Gene

Human Gene Mutation Database (HGMD)
SMPX
SNPedia medical, phenotypic, and genealogical associations of SNPs for
SMPX

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SMPX Gene

Disorders for SMPX Gene

MalaCards: The human disease database

(19) MalaCards diseases for SMPX Gene - From: OMI, CVR, GTR, ORP, COP, and GCD

- elite association - COSMIC cancer census association via MalaCards
Search SMPX in MalaCards View complete list of genes associated with diseases

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 variants affecting the gene represented in this entry.

Additional Disease Information for SMPX

Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with SMPX: view

No data available for Genatlas for SMPX Gene

Publications for SMPX Gene

  1. A novel deletion in SMPX causes a rare form of X-linked progressive hearing loss in two families due to a founder effect. (PMID: 22911656) Abdelfatah N … Young TL (Human mutation 2013) 3 4 74
  2. 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 (American journal of human genetics 2011) 3 4 74
  3. Nonsense mutations in SMPX, encoding a protein responsive to physical force, result in X-chromosomal hearing loss. (PMID: 21549336) Huebner AK … Kurth I (American journal of human genetics 2011) 3 4 74
  4. Identification of a novel stretch-responsive skeletal muscle gene (Smpx). (PMID: 11401441) Kemp TJ … Coulton GR (Genomics 2001) 3 4 23
  5. Identification, mapping, and genomic structure of a novel X-chromosomal human gene (SMPX) encoding a small muscular protein. (PMID: 10598820) Patzak D … Wehnert M (Human genetics 1999) 3 4 23

ExternalLinks

View latest publications for SMPX gene in Mastermind

Products for SMPX Gene

Sources for SMPX Gene