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Aliases for CNE-2 Gene

Aliases for CNE-2 Gene

  • CNE-2 Enhancer Upstream Of SHOX 3

External Ids for CNE-2 Gene

Summaries for CNE-2 Gene

Entrez Gene Summary for CNE-2 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 68 kb upstream 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, and has been shown to form looping interactions with the SHOX promoter in 4C-seq assays. 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 CNE-2 Gene

CNE-2 (CNE-2 Enhancer Upstream Of SHOX) is an Uncategorized gene. Diseases associated with CNE-2 include Langer Mesomelic Dysplasia and Autism.

Additional gene information for CNE-2 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 CNE-2 Gene

Genomics for CNE-2 Gene

Genomic Locations for CNE-2 Gene

No location information available

Genomic View for CNE-2 Gene


Cytogenetic band:

No data available for GeneHancer (GH) Regulatory Elements and RefSeq DNA sequence for CNE-2 Gene

Proteins for CNE-2 Gene

Post-translational modifications for CNE-2 Gene

No Post-translational modifications

No data available for DME Specific Peptides for CNE-2 Gene

Domains & Families for CNE-2 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 CNE-2 Gene

Function for CNE-2 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 CNE-2 Gene

Localization for CNE-2 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 CNE-2 Gene

Pathways & Interactions for CNE-2 Gene

SuperPathways for CNE-2 Gene

No Data Available

Interacting Proteins for CNE-2 Gene

Gene Ontology (GO) - Biological Process for CNE-2 Gene

None

No data available for Pathways by source and SIGNOR curated interactions for CNE-2 Gene

Drugs & Compounds for CNE-2 Gene

No Compound Related Data Available

Transcripts for CNE-2 Gene

Alternative Splicing Database (ASD) splice patterns (SP) for CNE-2 Gene

No ASD Table

No data available for mRNA/cDNA for CNE-2 Gene

Expression for CNE-2 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 CNE-2 Gene

Orthologs for CNE-2 Gene

No data available for Orthologs and Evolution for CNE-2 Gene

Paralogs for CNE-2 Gene

No data available for Paralogs for CNE-2 Gene

Variants for CNE-2 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 CNE-2 Gene

Disorders for CNE-2 Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
langer mesomelic dysplasia
  • lmd
autism
  • autistic disorder
- elite association - COSMIC cancer census association via MalaCards
Search CNE-2 in MalaCards View complete list of genes associated with diseases
genes like me logo Genes that share disorders with CNE-2: view

No data available for UniProtKB/Swiss-Prot , Genatlas and External Links for CNE-2 Gene

Publications for CNE-2 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. Compound heterozygous deletions in pseudoautosomal region 1 in an infant with mild manifestations of langer mesomelic dysplasia. (PMID: 24311385) Tsuchiya T … Fukami M (American journal of medical genetics. Part A 2014) 3 58

Products for CNE-2 Gene

Sources for CNE-2 Gene

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