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 3
  • DFNX4 3
  • DFN6 3
  • SRMX 4
  • Csl 3

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 Nonsyndromic Deafness.

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 for SMPX Gene

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 500.7 +1.5 1513 4.1 CTCF HLF SMPX lnc-SMPX-3 YY2 piR-60112-010
GH0XJ021740 Enhancer 0.8 ENCODE 0.4 +16.8 16831 1.5 ZNF639 ZNF10 TRIM28 FOXA2 OSR2 WT1 NFIC ZBTB17 TCF7L2 POLR2A YY2 lnc-SMPX-3 SMPX piR-60112-010
GH0XJ021738 Enhancer 0.7 ENCODE 0.4 +19.4 19442 0.2 ZIC2 ATF2 OSR2 WT1 SP2 ZBTB17 KLF8 ZNF335 IKZF3 ZNF189 lnc-SMPX-3 SMPX piR-60112-010
GH0XJ021733 Enhancer 0.7 Ensembl ENCODE 0.4 +23.4 23412 2.5 FOXA2 CHD4 RXRA HNF4A TRIM28 HNF1A SP1 ZNF652 EP300 FOXA1 YY2 SMPX lnc-SMPX-3 piR-60112-010
GH0XJ021742 Enhancer 0.6 ENCODE 0.4 +15.7 15702 0.2 ZNF639 TRIM28 ATF2 OSR2 ZBTB17 KLF8 PRDM6 RXRA INSM2 ZBTB21 lnc-SMPX-3 SMPX piR-60112-010
- 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 UCSC Golden Path with GeneCards custom track

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

Genomic Locations for SMPX Gene
chrX:21,705,972-21,758,160
(GRCh38/hg38)
Size:
52,189 bases
Orientation:
Minus strand
chrX:21,724,090-21,776,281
(GRCh37/hg19)
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 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

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

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 Model Products

CRISPR Products

Inhibitory RNA Products

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

Clone Products

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

;

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

(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

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 :

CRISPR Products

Inhibitory RNA Products

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

Clone 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

Expression for SMPX Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE 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)
  • Heart(2.5)

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 31 30
  • 100 (n)
OneToOne
cow
(Bos Taurus)
Mammalia SMPX 31 30
  • 93.02 (n)
OneToOne
dog
(Canis familiaris)
Mammalia SMPX 31 30
  • 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 17 31 30
  • 83.53 (n)
rat
(Rattus norvegicus)
Mammalia Smpx 30
  • 80 (n)
chicken
(Gallus gallus)
Aves SMPX 31 30
  • 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 31 30
  • 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 (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)
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

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
668424 Likely Benign: not provided 21,737,680(-) C/T NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS_VARIANT
738921 Benign: not provided 21,743,827(-) T/C MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT
rs1057515838 Uncertain Significance: Nonsyndromic Hearing Loss, X-Linked 21,706,364(-) T/A NON_CODING_TRANSCRIPT_VARIANT,THREE_PRIME_UTR_VARIANT
rs1057515839 Uncertain Significance: Nonsyndromic Hearing Loss, X-Linked 21,737,566(-) C/T NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS_VARIANT
rs1057515840 Uncertain Significance: Nonsyndromic Hearing Loss, X-Linked 21,757,983(-) C/T NON_CODING_TRANSCRIPT_VARIANT,FIVE_PRIME_UTR_VARIANT

Additional dbSNP identifiers (rs#s) for SMPX Gene

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 Assay Products

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

Disorders for SMPX Gene

MalaCards: The human disease database

(15) MalaCards diseases for SMPX Gene - From: OMIM, ClinVar, GTR, Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
deafness, x-linked 4
  • dfnx4
x-linked nonsyndromic deafness
  • x-linked deafness
x-linked non-syndromic sensorineural deafness type dfn
  • x-linked isolated neurosensory deafness type dfn
hereditary hearing loss and deafness
deafness, x-linked 6
  • dfnx6
- 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 mutations affecting the gene represented in this entry.

Additional Disease Information for SMPX

genes like me logo Genes that share disorders with SMPX: view

No data available for Genatlas for SMPX Gene

Publications for SMPX Gene

  1. Identification of a novel stretch-responsive skeletal muscle gene (Smpx). (PMID: 11401441) Kemp TJ … Coulton GR (Genomics 2001) 3 4 23 54
  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 (Human genetics 1999) 3 4 23 54
  3. 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 54
  4. Variable degrees of hearing impairment in a Dutch DFNX4 (DFN6) family. (PMID: 21893181) Weegerink NJ … Kunst HP (Hearing research 2011) 2 3 54
  5. 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 54

Products for SMPX Gene

Sources for SMPX Gene