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Goosecoidlike (GSCL), a homeodomain-containing gene, resides in the critical region for VCFS/DGS on 22q11. Velocardiofacial syndrome (VCFS) is a developmental disorder characterized by conotruncal heart defects, craniofacial anomalies, and learning disabilities. VCFS is phenotypically related to DiGeorge syndrome (DGS) and both syndromes are associated with hemizygous 22q11 deletions. Because many of the tissues and structures affected in VCFS/DGS derive from the pharyngeal arches of the developing embryo, it is believed that haploinsufficiency of a gene involved in embryonic development may be responsible for its etiology. The gene is expressed in a limited number of adult tissues, as well as in early human development. [provided by RefSeq, Jul 2008]
GSC2 (Goosecoid Homeobox 2) is a Protein Coding gene. Diseases associated with GSC2 include Digeorge Syndrome and Velocardiofacial Syndrome. Gene Ontology (GO) annotations related to this gene include DNA-binding transcription factor activity and sequence-specific DNA binding. An important paralog of this gene is GSC.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000981 | DNA-binding transcription factor activity, RNA polymerase II-specific | ISM | 19274049 |
GO:0003677 | DNA binding | TAS | 9441739 |
GO:0003700 | DNA-binding transcription factor activity | IDA | 9700206 |
GO:0043565 | sequence-specific DNA binding | IDA | 23332764 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000790 | nuclear chromatin | ISA | -- |
GO:0005634 | nucleus | IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0006355 | regulation of transcription, DNA-templated | IEA | -- |
GO:0006357 | regulation of transcription by RNA polymerase II | IDA | 9700206 |
GO:0009653 | anatomical structure morphogenesis | TAS | 9150167 |
This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Mouse (Mus musculus) |
Mammalia | Gsc2 30 17 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Gsc2 30 |
|
||
Cow (Bos Taurus) |
Mammalia | GSC2 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | GSC2 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | GSC2 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | GSC2 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | gsc2 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | LOC101885810 30 |
|
||
zgc:101100 31 |
|
ManyToMany | |||
Fruit Fly (Drosophila melanogaster) |
Insecta | Gsc 31 |
|
OneToMany | |
Worm (Caenorhabditis elegans) |
Secernentea | ceh-45 31 |
|
OneToMany |
SNP ID | Clinical significance and condition | Chr 22 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
rs34341950 | - | p.Arg47Cys |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
dgv2435n106 | CNV | deletion | 24896259 |
esv3575418 | CNV | gain | 25503493 |
nsv1056141 | CNV | gain | 25217958 |
nsv1072198 | CNV | deletion | 25765185 |
nsv588213 | CNV | gain | 21841781 |
nsv588216 | CNV | gain | 21841781 |
nsv834122 | CNV | loss | 17160897 |
Disorder | Aliases | PubMed IDs |
---|---|---|
digeorge syndrome |
|
|
velocardiofacial syndrome |
|
|