DGCR2
Sign in to saveAlso known as DGS-C, IDD, LAN, SEZ-12, 9930034O06Rik, Dgsc, Sez12, mKIAA0163
The DGCR2 gene encodes the protein integral membrane protein DGCR2/IDD in humans.
Gene data
DGCR2- Name
- DiGeorge syndrome critical region gene 2
- Type
- protein-coding
- Aliases
- DGS-C, IDD, LAN, SEZ-12
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].
via MyGene.info
Gene · Ensembl
DiGeorge syndrome critical region gene 2
- Symbol
- DGCR2
- Biotype
- Protein coding
- Organism
- Homo sapiens
- Location
- 22:19,036,280-19,122,461
- Strand
- Reverse (−)
- Assembly
- GRCh38
via Ensembl · EMBL-EBI
~1 min read
Encyclopedic overview
3 sectionsContents
- References
- Further reading
- External links
The DGCR2 gene encodes the protein integral membrane protein DGCR2/IDD in humans.
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. DGCR2 is thought to interact with the Reelin complex to regulate corticogenesis.
Excerpted from Wikipedia’s “DGCR2” article, available under the CC BY-SA 4.0 licence.