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Aliases for DGCR Gene

Aliases for DGCR Gene

  • DiGeorge Syndrome Chromosome Region 2 3
  • DiGeorge Syndrome Chromosome Region (Velocardiofacial Syndrome) 3
  • CATCH22 3
  • DGS 3
  • VCF 3

External Ids for DGCR Gene

Summaries for DGCR Gene

Entrez Gene Summary for DGCR Gene

  • DiGeorge syndrome (DGS) comprises hypocalcemia arising from parathyroid hypoplasia, thymic hypoplasia, and outflow tract defects of the heart. Disturbance of cervical neural crest migration into the derivatives of the pharyngeal arches and pouches can account for the phenotype. Most cases result from a deletion of chromosome 22q11.2 (the DiGeorge syndrome chromosome region, or DGCR). Several genes are lost including the putative transcription factor TUPLE1 which is expressed in the appropriate distribution. This deletion may present with a variety of phenotypes: Shprintzen, or velocardiofacial, syndrome (VCFS; MIM 192430); conotruncal anomaly face (or Takao syndrome); and isolated outflow tract defects of the heart including tetralogy of Fallot, truncus arteriosus, and interrupted aortic arch. A collective acronym CATCH22 has been proposed for these differing presentations. A small number of cases of DGS have defects in other chromosomes, notably 10p13 (see MIM 601362). In the mouse, a transgenic Hox A3 (Hox 1.5) knockout produces a phenotype similar to DGS as do the teratogens retinoic acid and alcohol.[supplied by OMIM, Aug 2009]

GeneCards Summary for DGCR Gene

DGCR (DiGeorge Syndrome Chromosome Region) is an Uncategorized gene. Diseases associated with DGCR include digeorge syndrome and velocardiofacial syndrome.

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

Genomics for DGCR Gene

Genomic Location for DGCR Gene

Chromosome:
22
Orientation:
Unknown strand

Genomic View for DGCR Gene

Cytogenetic band:
GeneLoc Logo Gene Density

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

Proteins for DGCR Gene

Post-translational modifications for DGCR Gene

No Post-translational modifications

No data available for DME Specific Peptides for DGCR Gene

Domains & Families for DGCR 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 DGCR Gene

Function for DGCR Gene

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

Localization for DGCR Gene

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

Pathways & Interactions for DGCR Gene

SuperPathways for DGCR Gene

No Data Available

Interacting Proteins for DGCR Gene

Gene Ontology (GO) - Biological Process for DGCR Gene

None

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

Drugs & Compounds for DGCR Gene

No Compound Related Data Available

Transcripts for DGCR Gene

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

No ASD Table

Relevant External Links for DGCR Gene

ECgene alternative splicing isoforms for
DGCR

No data available for mRNA/cDNA for DGCR Gene

Expression for DGCR Gene

No Expression Related Data Available

Primer Products

In Situ Assay Products

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 DGCR Gene

Orthologs for DGCR Gene

No data available for Orthologs and Evolution for DGCR Gene

Paralogs for DGCR Gene

No data available for Paralogs for DGCR Gene

Variants for DGCR 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 DGCR Gene

Disorders for DGCR Gene

MalaCards: The human disease database

(5) MalaCards diseases for DGCR Gene - From: OMIM and GeneCards

Disorder Aliases PubMed IDs
digeorge syndrome
  • digeorge's syndrome
velocardiofacial syndrome
  • 22q11 deletion syndrome
conotruncal heart malformations
  • double-outlet right ventricle
tetralogy of fallot
  • tetrology of fallot
truncus arteriosus
  • common aortico-pulmonary trunk
- elite association
Search DGCR in MalaCards View complete list of genes associated with diseases
genes like me logo Genes that share disorders with DGCR: view

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

Publications for DGCR Gene

  1. Comparative mapping of the human 22q11 chromosomal region and the orthologous region in mice reveals complex changes in gene organization. (PMID: 9405660) Puech A. … Skoultchi A.I. (Proc. Natl. Acad. Sci. U.S.A. 1997) 23 67
  2. Immunologic features of chromosome 22q11.2 deletion syndrome (DiGeorge syndrome/velocardiofacial syndrome). (PMID: 11713452) Jawad A.F. … Sullivan K.E. (J. Pediatr. 2001) 67
  3. Graves' disease in patients with 22q11.2 deletion. (PMID: 11743521) Kawame H. … McDonald-McGinn D.M. (J. Pediatr. 2001) 67
  4. Deletions and microdeletions of 22q11.2 in velo-cardio-facial syndrome. (PMID: 1360769) Driscoll D.A. … Jones M.C. (Am. J. Med. Genet. 1992) 67

Products for DGCR Gene

Sources for DGCR Gene

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