Free for academic non-profit institutions. Other users need a Commercial license

Aliases for CNE5 Gene

Aliases for CNE5 Gene

  • CNE5 Enhancer Downstream Of SHOX 3

External Ids for CNE5 Gene

Summaries for CNE5 Gene

Entrez Gene Summary for CNE5 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 131 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 of SHOX gene expression. 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 CNE5 Gene

CNE5 (CNE5 Enhancer Downstream Of SHOX) is an Uncategorized gene. Diseases associated with CNE5 include Leri-Weill Dyschondrosteosis and Langer Mesomelic Dysplasia.

Additional gene information for CNE5 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 CNE5 Gene

Genomics for CNE5 Gene

Genomic Locations for CNE5 Gene

No location information available

Genomic View for CNE5 Gene


Cytogenetic band:

No data available for Regulatory Elements and RefSeq DNA sequence for CNE5 Gene

Function for CNE5 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 CNE5 Gene

Localization for CNE5 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 CNE5 Gene

Pathways & Interactions for CNE5 Gene

No Data Available

Interacting Proteins for CNE5 Gene

Gene Ontology (GO) - Biological Process for CNE5 Gene

None

No data available for Pathways by source and SIGNOR curated interactions for CNE5 Gene

Drugs & Compounds for CNE5 Gene

No Compound Related Data Available

Transcripts for CNE5 Gene

Alternative Splicing Database (ASD) splice patterns (SP) for CNE5 Gene

No ASD Table

No data available for mRNA/cDNA for CNE5 Gene

Expression for CNE5 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 CNE5 Gene

Orthologs for CNE5 Gene

No data available for Orthologs and Evolution for CNE5 Gene

Paralogs for CNE5 Gene

No data available for Paralogs for CNE5 Gene

Variants for CNE5 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 Relevant External Links for CNE5 Gene

Disorders for CNE5 Gene

MalaCards: The human disease database

(2) MalaCards diseases for CNE5 Gene - From: GeneCards

Disorder Aliases PubMed IDs
leri-weill dyschondrosteosis
  • leri weill dyschondrosteosis
langer mesomelic dysplasia
  • dyschondrosteosis, homozygous
- elite association - COSMIC cancer census association via MalaCards
Search CNE5 in MalaCards View complete list of genes associated with diseases
genes like me logo Genes that share disorders with CNE5: view

No data available for UniProtKB/Swiss-Prot , Genatlas and External Links for CNE5 Gene

Publications for CNE5 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 60
  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 60
  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 60
  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 60
  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 60

Products for CNE5 Gene

Sources for CNE5 Gene

Content
Loading form....