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Aliases for FSHMD1A Gene

Aliases for FSHMD1A Gene

  • Facioscapulohumeral Muscular Dystrophy 1A 2 3
  • FSHD1A 3
  • FSHMD 3
  • FSHD 3
  • FMD 3

External Ids for FSHMD1A Gene

Previous HGNC Symbols for FSHMD1A Gene

  • FMD
  • FSHD

Summaries for FSHMD1A Gene

Entrez Gene Summary for FSHMD1A Gene

  • Facioscapulohumeral muscular dystrophy (FSHD) is a common hereditary disease of muscle. Patients with FSHD have a chromosomal rearrangement within the subtelomeric region of chromosome 4 (4q35). This region is composed mainly of a polymorphic repeat structure consisting of 3.3 kb repeat units, designated D4Z4. The number of repeat units varies from 10 to more than 100 in the population, however, in FSHD patients only 1-10 repeat units is observed because of a deletion of an integral number of these units. FSHD is caused by an epigenetic mechanism involving the contraction of a subtelomeric macrosatellite repeat, which results in marked hypomethylation of the contracted D4Z4 allele. It is likely not the structure, but the deregulation of transcription of one or more genes as a result of repeat-contraction-mediated chromatin alterations, that causes FSHD. [provided by RefSeq, Sep 2011]

GeneCards Summary for FSHMD1A Gene

FSHMD1A (Facioscapulohumeral Muscular Dystrophy 1A) is a Genetic Locus. Diseases associated with FSHMD1A include Facioscapulohumeral Muscular Dystrophy 1 and Terminal Osseous Dysplasia.

No data available for UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for FSHMD1A Gene

Genomics for FSHMD1A Gene

Genomic Location for FSHMD1A Gene

Unknown strand

Genomic View for FSHMD1A Gene

Cytogenetic band:
GeneLoc Logo Gene Density

No data available for Regulatory Elements and RefSeq DNA sequence for FSHMD1A Gene

Proteins for FSHMD1A Gene

Post-translational modifications for FSHMD1A Gene

No Post-translational modifications

No data available for DME Specific Peptides for FSHMD1A Gene

Domains & Families for FSHMD1A Gene

Graphical View of Domain Structure for InterPro Entry

No data available for Gene Families , Protein Domains , Suggested Antigen Peptide Sequences and UniProtKB/Swiss-Prot for FSHMD1A Gene

Function for FSHMD1A Gene

No data available for Molecular function , Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Phenotypes , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for FSHMD1A Gene

Localization for FSHMD1A Gene

No data available for Subcellular locations from UniProtKB/Swiss-Prot , Subcellular locations from COMPARTMENTS and Gene Ontology (GO) - Cellular Components for FSHMD1A Gene

Pathways & Interactions for FSHMD1A Gene

SuperPathways for FSHMD1A Gene

No Data Available

Interacting Proteins for FSHMD1A Gene

Gene Ontology (GO) - Biological Process for FSHMD1A Gene


No data available for Pathways by source and SIGNOR curated interactions for FSHMD1A Gene

Drugs & Compounds for FSHMD1A Gene

No Compound Related Data Available

Expression for FSHMD1A Gene

No Expression Related Data Available

No data available for mRNA expression in normal human tissues , mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein differential expression in normal tissues , Protein expression , mRNA Expression by UniProt/SwissProt and Protein tissue co-expression partners for FSHMD1A Gene

Orthologs for FSHMD1A Gene

No data available for Orthologs and Evolution for FSHMD1A Gene

Paralogs for FSHMD1A Gene

No data available for Paralogs for FSHMD1A Gene

Variants for FSHMD1A Gene

Relevant External Links for FSHMD1A Gene

Human Gene Mutation Database (HGMD)

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot , Sequence variations from dbSNP and Humsavar , Structural Variations from Database of Genomic Variants (DGV) and Variation tolerance for FSHMD1A Gene

Disorders for FSHMD1A Gene

MalaCards: The human disease database

(11) MalaCards diseases for FSHMD1A Gene - From: OMIM and Novoseek

Disorder Aliases PubMed IDs
facioscapulohumeral muscular dystrophy 1
  • facioscapulohumeral muscular dystrophy
fg syndrome 2
  • fgs2
terminal osseous dysplasia
  • terminal osseous dysplasia-pigmentary defects syndrome
heterotopia, periventricular
  • periventricular nodular heterotopia 4
otopalatodigital syndrome, type i
  • oto-palato-digital syndrome type 1
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for FSHMD1A

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
genes like me logo Genes that share disorders with FSHMD1A: view

No data available for UniProtKB/Swiss-Prot and Genatlas for FSHMD1A Gene

Publications for FSHMD1A Gene

  1. A new double-trouble phenotype: fascioscapulohumeral muscular dystrophy ameliorates hereditary spastic paraparesis due to spastin mutation. (PMID: 25511172) Scarlato M. … Previtali S.C. (J. Neurol. 2015) 3 67
  2. A long ncRNA links copy number variation to a polycomb/trithorax epigenetic switch in FSHD muscular dystrophy. (PMID: 22541069) Cabianca D.S. … Gabellini D. (Cell 2012) 3
  3. [Cascade of gene activation in Landouzy Dejerine muscular dystrophy]. (PMID: 21166133) Belayew A. (Bull. Mem. Acad. R. Med. Belg. 2010) 3
  4. Fusion of EWSR1 with the DUX4 facioscapulohumeral muscular dystrophy region resulting from t(4;22)(q35;q12) in a case of embryonal rhabdomyosarcoma. (PMID: 19837262) Sirvent N. … Pedeutour F. (Cancer Genet. Cytogenet. 2009) 3
  5. The 4q subtelomere harboring the FSHD locus is specifically anchored with peripheral heterochromatin unlike most human telomeres. (PMID: 15504910) Tam R. … Lawrence J.B. (J. Cell Biol. 2004) 3

Products for FSHMD1A Gene

Sources for FSHMD1A Gene