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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

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0 Pathways

Gene --> GO terms.

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]


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Gene --> Chromosomal location.

Gene --> GO terms.

Gene --> Overlapping genes.


Gene --> Proteins.


Gene Report --> GWAS hit


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]


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Gene --> Physical and Genetic Interactions


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

Gene Ontology

Gene --> GO terms.



0 Pathways

3753 SN Ps

5 Cross References

18 Data Sets

6 Homologues

0 Located Features

97 Rna Seq Results