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Aliases for CNE6 Gene

Aliases for CNE6 Gene

  • CNE6 Enhancer Downstream Of SHOX 3

External Ids for CNE6 Gene

Summaries for CNE6 Gene

Entrez Gene Summary for CNE6 Gene

  • This genomic element is found within the pseudoautosomal region 1 (PAR1) of chromosomes X and Y, where each chromosome contains the same DNA region. It is located approximately 146 kb downstream of the SHOX (short stature homeobox) gene, and is one of several conserved elements that surround that gene. It can function as an enhancer in various tissues in transgenic zebrafish embryos. Mutations that include this element, including deletions and microduplications, are associated with Leri-Weill dyschondrosteosis (LWD) and idiopathic short stature (ISS), and they have also been implicated in autism spectrum disorders (ASDs) and related neurodevelopmental conditions. [provided by RefSeq, Jul 2016]

GeneCards Summary for CNE6 Gene

CNE6 (CNE6 Enhancer Downstream Of SHOX) is an Uncategorized gene. Diseases associated with CNE6 include Langer Mesomelic Dysplasia and Autism.

Additional gene information for CNE6 Gene

No data available for CIViC summary , UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CNE6 Gene

Genomics for CNE6 Gene

Genomic Locations for CNE6 Gene

No location information available

Genomic View for CNE6 Gene


Cytogenetic band:

No data available for GeneHancer (GH) Regulatory Elements and RefSeq DNA sequence for CNE6 Gene

Function for CNE6 Gene

Animal Model Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , Gene Ontology (GO) - Molecular Function , Phenotypes , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for CNE6 Gene

Localization for CNE6 Gene

No data available for Subcellular locations from UniProtKB/Swiss-Prot , Subcellular locations from COMPARTMENTS , Subcellular locations from the Human Protein Atlas (HPA) and Gene Ontology (GO) - Cellular Components for CNE6 Gene

Pathways & Interactions for CNE6 Gene

No Data Available

Interacting Proteins for CNE6 Gene

Gene Ontology (GO) - Biological Process for CNE6 Gene

None

No data available for Pathways by source and SIGNOR curated interactions for CNE6 Gene

Drugs & Compounds for CNE6 Gene

No Compound Related Data Available

Transcripts for CNE6 Gene

Alternative Splicing Database (ASD) splice patterns (SP) for CNE6 Gene

No ASD Table

No data available for mRNA/cDNA for CNE6 Gene

Expression for CNE6 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 , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for CNE6 Gene

Orthologs for CNE6 Gene

No data available for Orthologs and Evolution for CNE6 Gene

Paralogs for CNE6 Gene

No data available for Paralogs for CNE6 Gene

Variants for CNE6 Gene

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot , Sequence variations from dbSNP and Humsavar , Structural Variations from Database of Genomic Variants (DGV) , Variation tolerance and Additional Variant Information for CNE6 Gene

Disorders for CNE6 Gene

MalaCards: The human disease database

(2) MalaCards diseases for CNE6 Gene - From: GeneCards

Disorder Aliases PubMed IDs
langer mesomelic dysplasia
  • lmd
autism
  • autistic disorder
- elite association - COSMIC cancer census association via MalaCards
Search CNE6 in MalaCards View complete list of genes associated with diseases
genes like me logo Genes that share disorders with CNE6: view

No data available for UniProtKB/Swiss-Prot , Genatlas and External Links for CNE6 Gene

Publications for CNE6 Gene

  1. Duplications upstream and downstream of SHOX identified as novel causes of Leri-Weill dyschondrosteosis or idiopathic short stature. (PMID: 26698168) Bunyan DJ … Coviello DA (American journal of medical genetics. Part A 2016) 3 58
  2. Microduplications at the pseudoautosomal SHOX locus in autism spectrum disorders and related neurodevelopmental conditions. (PMID: 27073233) Tropeano M … Murphy DG (Journal of medical genetics 2016) 3 58
  3. The growth response to GH treatment is greater in patients with SHOX enhancer deletions compared to SHOX defects. (PMID: 26264720) Donze SH … Oostdijk W (European journal of endocrinology 2015) 3 58
  4. Profiling of conserved non-coding elements upstream of SHOX and functional characterisation of the SHOX cis-regulatory landscape. (PMID: 26631348) Verdin H … De Baere E (Scientific reports 2015) 3 58
  5. Langer mesomelic dysplasia in early fetuses: two cases and a literature review. (PMID: 23883335) Ambrosetti F … Rivasi F (Fetal and pediatric pathology 2014) 3 58

Products for CNE6 Gene

Sources for CNE6 Gene

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