Version 5.4
Homo sapiens Gene: DGCR2
Summary
InnateDB Gene IDBG-1226.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol DGCR2
Gene Name DiGeorge syndrome critical region gene 2
Synonyms DGS-C; IDD; LAN; SEZ-12
Species Homo sapiens
Ensembl Gene ENSG00000070413
Encoded Proteins
IDBP-1228
DiGeorge syndrome critical region gene 2
IDBP-1232
DiGeorge syndrome critical region gene 2
IDBP-602040
DiGeorge syndrome critical region gene 2
IDBP-602956
DiGeorge syndrome critical region gene 2
IDBP-810394
DiGeorge syndrome critical region gene 2
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary 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]
Gene Information
Type Protein coding
Genomic Location Chromosome 22:19036282-19122454
Strand Reverse strand
Band q11.21
Transcripts
ENST00000263196 ENSP00000263196
ENST00000389262 ENSP00000373914
ENST00000467659
ENST00000473832
ENST00000537045 ENSP00000440062
ENST00000545799 ENSP00000445069
ENST00000608548
ENST00000615747 ENSP00000482494
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 4 experimentally validated interaction(s) in this database.
Experimentally validated
Total 4 [view]
Protein-Protein 4 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Gene Ontology

Molecular Function
Accession GO Term
GO:0005515 protein binding
GO:0030246 carbohydrate binding
Biological Process
GO:0007155 cell adhesion
GO:0009887 organ morphogenesis
GO:0050890 cognition
Cellular Component
GO:0016021 integral component of membrane
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
ENSMUSG00000003166
View Gene Order
ENSBTAG00000000429
Not yet available
Cross-References
SwissProt
TrEMBL
UniProt Splice Variant
Entrez Gene
UniGene
RefSeq NM_001173533 NM_001173534 NM_001184781 NM_005137
HUGO
OMIM
CCDS CCDS33598 CCDS54496
HPRD
IMGT
EMBL
GenPept
RNA Seq Atlas

If you use InnateDB for your research, please cite the following publication:

Breuer et al., InnateDB: systems biology of innate immunity and beyond - recent updates and continuing curation. Nucl. Acids Res. (2013) 41 (D1) 

InnateDB is being developed jointly by the Brinkman Laboratory (Simon Fraser University, British Columbia, Canada), the Hancock Laboratory (University of British Columbia, Vancouver, British Columbia) and the Lynn EMBL Australia Group (South Australian Health & Medical Research Institute and Flinders University, Adelaide, Australia).

Funding is currently provided by Allergen and EMBL Australia. Previous funding has been provided by Genome Canada, the Foundation for the National Institutes of Health through the Grand Challenges in Global Health initiative and by Teagasc. InnateDB curated interactions are licensed under the Design Science License. All other data is licensed under the terms of the originating database. Contact: innatedb-mail@sfu.ca