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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]
DGCR2 (DiGeorge Syndrome Critical Region Gene 2) is a Protein Coding gene. Diseases associated with DGCR2 include Digeorge Syndrome and Digeorge Syndrome/Velocardiofacial Syndrome Complex 2. Gene Ontology (GO) annotations related to this gene include carbohydrate binding.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005515 | protein binding | IEA | -- |
GO:0030246 | carbohydrate binding | IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0016020 | membrane | IEA,IBA | 21873635 |
GO:0016021 | integral component of membrane | IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0007155 | cell adhesion | IEA | -- |
GO:0009887 | animal organ morphogenesis | TAS | 7655455 |
GO:0050890 | cognition | IMP | 23227193 |
ExUns: | 1a | · | 1b | · | 1c | ^ | 2a | · | 2b | ^ | 3 | ^ | 4 | ^ | 5 | ^ | 6 | ^ | 7 | ^ | 8a | · | 8b | · | 8c | · | 8d | · | 8e | ^ | 9 | ^ | 10a | · | 10b | ^ | 11a | · | 11b | · | 11c | · | 11d | ^ | 12 | ^ | 13a | · | 13b | ^ | 14a | · |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||||
SP2: | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||||
SP3: | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||||
SP4: | - | - | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||
SP5: | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||
SP6: | - | - | - | - | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||
SP7: | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||||
SP8: | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||||
SP9: | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||||||
SP10: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP11: | - | |||||||||||||||||||||||||||||||||||||||||||||||||||
SP12: | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||||
SP13: | - | - |
ExUns: | 14b | · | 14c | · | 14d | ^ | 15a | · | 15b | · | 15c | ^ | 16 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | ||||||||||||
SP2: | |||||||||||||
SP3: | |||||||||||||
SP4: | |||||||||||||
SP5: | - | ||||||||||||
SP6: | |||||||||||||
SP7: | |||||||||||||
SP8: | |||||||||||||
SP9: | - | ||||||||||||
SP10: | |||||||||||||
SP11: | |||||||||||||
SP12: | |||||||||||||
SP13: |
This gene was present in the common ancestor of chordates.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | DGCR2 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | DGCR2 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Dgcr2 30 17 31 |
|
OneToMany | |
Gm20518 31 |
|
OneToMany | |||
Rat (Rattus norvegicus) |
Mammalia | LOC100910275 30 |
|
||
Cow (Bos Taurus) |
Mammalia | DGCR2 30 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | DGCR2 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | DGCR2 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | DGCR2 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | DGCR2 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | dgcr2 30 |
|
||
Str.8178 30 |
|
||||
African clawed frog (Xenopus laevis) |
Amphibia | Xl.1676 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | dgcr2 30 31 |
|
OneToOne |
SNP ID | Clinical significance and condition | Chr 22 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
730502 | Benign: not provided | 19,122,176(-) | G/A | NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS_VARIANT | |
733935 | Benign: not provided | 19,057,110(-) | A/C | NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS_VARIANT | |
739670 | Likely Benign: not provided | 19,041,877(-) | C/T | NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS_VARIANT | |
740399 | Likely Benign: not provided | 19,038,985(-) | G/A | NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS_VARIANT | |
773616 | Benign: not provided | 19,041,137(-) | C/T | NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS_VARIANT |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
dgv1284e212 | CNV | gain | 25503493 |
dgv1285e212 | CNV | loss | 25503493 |
dgv1286e212 | CNV | loss | 25503493 |
dgv173e55 | CNV | gain | 17911159 |
dgv174e55 | CNV | gain | 17911159 |
dgv281e215 | CNV | deletion | 23714750 |
dgv4469n100 | CNV | gain | 25217958 |
dgv4472n100 | CNV | loss | 25217958 |
dgv4473n100 | CNV | gain+loss | 25217958 |
dgv4474n100 | CNV | gain | 25217958 |
dgv543n27 | CNV | gain | 19166990 |
dgv7969n54 | CNV | gain | 21841781 |
dgv7973n54 | CNV | gain | 21841781 |
dgv824e214 | CNV | gain | 21293372 |
esv2678705 | CNV | deletion | 23128226 |
esv2751935 | CNV | loss | 17911159 |
esv2758824 | CNV | gain+loss | 17122850 |
esv3447073 | CNV | insertion | 20981092 |
esv3557923 | CNV | deletion | 23714750 |
esv3575418 | CNV | gain | 25503493 |
esv3647259 | CNV | loss | 21293372 |
nsv1056141 | CNV | gain | 25217958 |
nsv1067175 | CNV | loss | 25217958 |
nsv1123575 | CNV | deletion | 24896259 |
nsv1136654 | CNV | deletion | 24896259 |
nsv516997 | CNV | gain+loss | 19592680 |
nsv588213 | CNV | gain | 21841781 |
nsv588216 | CNV | gain | 21841781 |
nsv828932 | CNV | loss | 20364138 |
nsv834122 | CNV | loss | 17160897 |
nsv953022 | CNV | deletion | 24416366 |
Disorder | Aliases | PubMed IDs |
---|---|---|
digeorge syndrome |
|
|
digeorge syndrome/velocardiofacial syndrome complex 2 |
|
|
velocardiofacial syndrome |
|
|
hypoparathyroidism, sensorineural deafness, and renal disease |
|
|
van den ende-gupta syndrome |
|
|