help  | about  | cite  | software

Gene : DGCR2 Homo sapiens

Name  ? DiGeorge syndrome critical region gene 2 Cytological Location  22q11.21
Brief Description  DiGeorge syndrome critical region gene 2
Description  Deletions of the 22q11.2 have been associated with a wide range of developmental defects (notably DiGeorge syndrome, velocardiofacial syndrome, conotruncal anomaly face syndrome and isolated conotruncal cardiac defects) classified under the acronym CATCH 22. The DGCR2 gene encodes a novel putative adhesion receptor protein, which could play a role in neural crest cells migration, a process which has been proposed to be altered in DiGeorge syndrome. Alternative splicing results in multiple transcript variants.[provided by RefSeq, May 2010]
  • synonyms:
  • SEZ-12,
  • SEZ-12,
  • integral membrane protein DGCR2,
  • D79985,
  • NM_005137,
  • IDD,
  • uc062bkn.1,
  • DGS-C,
  • IDD,
  • HGNC:2845,
  • LAN,
  • DGS-C,
  • LAN,
  • KIAA0163,
  • OTTHUMG00000150141,
  • DGCR2
  • identifiers:
  • 9993,
  • ENSG00000070413,
  • DGCR2

Genome feature

Region: gene ? Length: 86173  
Location: 22:19036282-19122454 reverse strand Cyto location: 22q11.21


Uni Prot Comments Displayer

Protein Atlas Displayer

Gene Expression Atlas Tissues Displayer

Gene Expression Atlas Diseases Displayer

Publication Counts Displayer

Curated Proteins Displayer

Function

Gene Ontology Displayer

0 Pathways

Gene --> GO terms.

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]

Genomics

J Browse Displayer

Gene Structure Displayer

Overlapping Features Displayer

Mouse Alleles Displayer

Gene --> Chromosomal location.

Gene --> GO terms.

Gene --> Overlapping genes.

Proteins

Gene --> Proteins.

SNPs

Gene Report --> GWAS hit

Disease

1 Diseases

Gene (Hum OR Rat) --> Mouse Allele (Phenotype)

Gene --> Alleles and Disease (clinVar data)

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]

Homology

Homologue Displayer

Interactions

Cytoscape Network Displayer

Gene --> Physical and Genetic Interactions

Expression

Gene(s) --> Significant SNPs (GTex data)

Gene Ontology

Gene --> GO terms.

 

Other

0 Pathways

3753 SN Ps

5 Cross References

18 Data Sets

6 Homologues

0 Located Features

97 Rna Seq Results