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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
  • DFNX4 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 X-Linked Non-Syndromic Sensorineural Deafness Type Dfn.

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.

Additional gene information for SMPX Gene

No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies 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
GH0XI021756 Promoter/Enhancer 0.8 EPDnew ENCODE 550.8 +0.6 571 2.2 CTCF SMPX YY2 KLHL34 GC0XM021715
GH0XI021740 Enhancer 0.9 ENCODE 0.4 +16.8 16834 1.5 FOXA2 INSM2 FEZF1 RARA ZNF121 SCRT2 ZNF680 RXRA TSHZ1 REST YY2 SMPX KLHL34 GC0XM021715
GH0XI021658 Promoter/Enhancer 1.7 EPDnew Ensembl ENCODE 0.2 +99.4 99371 1.2 ZBTB21 ZNF529 ZNF140 ZNF266 ZNF697 ZNF121 ZNF213 RBAK ZNF433 EZH2 KLHL34 YY2 SMPX
GH0XI021770 Enhancer 0.8 ENCODE 0.4 -12.6 -12639 1.3 CTCF TFAP4 SAP130 NFIB ARID4B KLF17 GLI4 ZIC2 TEAD3 POLR2A YY2 SMPX GC0XM021809 PIR62030 GC0XM021715
GH0XI021738 Enhancer 0.8 ENCODE 0.4 +19.4 19445 0.2 PKNOX1 ZBTB21 KLF17 FEZF1 ZIC2 ZNF2 HIC1 ZNF335 CTBP1 ZNF366 SMPX KLHL34 GC0XM021715
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around SMPX on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the SMPX gene promoter:

Genomic Locations for SMPX Gene

Genomic Locations for SMPX Gene
chrX:21,705,972-21,758,163
(GRCh38/hg38)
Size:
52,192 bases
Orientation:
Minus strand
chrX:21,724,090-21,776,281
(GRCh37/hg19)

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

HGNC:
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:

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

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.
genes like me logo Genes that share phenotypes with SMPX: view

Animal Models for SMPX Gene

MGI Knock Outs for SMPX:

Clone Products

No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , 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
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,IEA --
GO:0031430 M band IBA,IEA --
GO:0043034 costamere IEA,IBA --
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

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) Additional Compounds for SMPX Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
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:

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
ECgene alternative splicing isoforms for
SMPX

Expression for SMPX Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP 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

NURSA nuclear receptor signaling pathways regulating expression of SMPX Gene:

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 33 34
  • 100 (n)
cow
(Bos Taurus)
Mammalia SMPX 33 34
  • 93.02 (n)
dog
(Canis familiaris)
Mammalia SMPX 33 34
  • 91.09 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia SMPX 34
  • 86 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia SMPX 34
  • 84 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Smpx 33 16 34
  • 83.53 (n)
rat
(Rattus norvegicus)
Mammalia Smpx 33
  • 80 (n)
chicken
(Gallus gallus)
Aves SMPX 33 34
  • 76.74 (n)
lizard
(Anolis carolinensis)
Reptilia SMPX 34
  • 77 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia smpx 33
  • 75.69 (n)
African clawed frog
(Xenopus laevis)
Amphibia MGC64235 33
zebrafish
(Danio rerio)
Actinopterygii smpx 33 34
  • 67.89 (n)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.8500 33
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)

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 Variation AA Info Type
rs1057515838 uncertain-significance, Nonsyndromic Hearing Loss, X-Linked 21,706,364(-) T/A 3_prime_UTR_variant, non_coding_transcript_variant
rs1057515839 uncertain-significance, Nonsyndromic Hearing Loss, X-Linked 21,737,566(-) C/T coding_sequence_variant, non_coding_transcript_variant, synonymous_variant
rs1057515840 uncertain-significance, Nonsyndromic Hearing Loss, X-Linked 21,757,983(-) C/T 5_prime_UTR_variant, non_coding_transcript_variant
rs1060499590 likely-pathogenic, Deafness, X-linked 4 21,737,698(-) C/T splice_acceptor_variant
rs199907508 likely-benign, Nonsyndromic Hearing Loss, X-Linked, not provided 21,743,750(-) C/T coding_sequence_variant, non_coding_transcript_variant, synonymous_variant

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

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

- 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 22 58
  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 22 58
  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 58
  4. Variable degrees of hearing impairment in a Dutch DFNX4 (DFN6) family. (PMID: 21893181) Weegerink NJ … Kunst HP (Hearing research 2011) 2 3 58
  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 58

Products for SMPX Gene

Sources for SMPX Gene

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