DGCR2

GENE INFORMATION

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Gene name

DGCR2 (HGNC Symbol)

Synonyms

DGS-C, IDD, KIAA0163, LAN, SEZ-12

Description

DiGeorge syndrome critical region gene 2 (HGNC Symbol)

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]

Chromosome

22

Cytoband

q11.21

Chromosome location (bp)

19023795 - 19109967

Protein evidence

Evidence at protein level (all genes)

Ensembl

ENSG00000070413 (version 75.37)

Entrez gene

9993

UniProt

P98153 (UniProt - Evidence at transcript level)

neXtProt

NX_P98153

Antibodypedia

DGCR2 antibodies
 

PROTEIN VIEW

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DGCR2-001
 
DGCR2-002
 
DGCR2-201
 
DGCR2-202
 
 
 
 
 

PROTEIN INFORMATION

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Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

DGCR2-001 ENSP00000263196
ENST00000263196
P98153
Show all »
Show » Show » 550 60.8 Yes 1
DGCR2-002 ENSP00000373914
ENST00000389262
B7Z3C4
Show all »
Show » Show » 326 35.6 No 1
DGCR2-201 ENSP00000440062
ENST00000537045
P98153
Show all »
Show » Show » 509 56.3 Yes 1
DGCR2-202 ENSP00000445069
ENST00000545799
Q5CZ70
Show all »
Show » Show » 269 30.4 Yes 0