Aliases for GSC2 Gene
Aliases for GSC2 Gene
External Ids for GSC2 Gene
- HGNC: 4613
- Entrez Gene: 2928
- Ensembl: ENSG00000063515
- OMIM: 601845
- UniProtKB: O15499
Previous HGNC Symbols for GSC2 Gene
- GSCL
Previous GeneCards Identifiers for GSC2 Gene
- GC22M017516
Summaries for GSC2 Gene
-
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]
GeneCards Summary for GSC2 Gene
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.
UniProtKB/Swiss-Prot for GSC2 Gene
-
May have a role in development. May regulate its own transcription. May bind the bicoid consensus sequence TAATCC.
No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for GSC2 Gene
Genomics for GSC2 Gene
GeneHancer (GH) Regulatory Elements for GSC2 Gene
GeneHancer (GH) Identifier | GH Type | GH Score |
GH Sources | Gene Association Score | Total Score | TSS distance (kb) | Number of Genes Away | Size (kb) | Transcription Factor Binding Sites |
Gene Targets |
---|---|---|---|---|---|---|---|---|---|---|
GH22I019150 | Promoter | 0.6 | EPDnew | 550.8 | 0.0 | -23 | 0.1 | EZH2 | GSC2 LINC01311 | |
GH22I019169 | Promoter/Enhancer | 2.5 | EPDnew Ensembl ENCODE dbSUPER | 14 | -24.4 | -24410 | 11.2 | CLOCK MLX FEZF1 DMAP1 YY1 SLC30A9 E2F8 ZNF143 ZNF263 SP3 | SLC25A1 CLTCL1 GSC2 ESS2 TSSK2 TSSK1A ENSG00000223461 DGCR2 UFD1 RPL7AP70 | |
GH22I019107 | Enhancer | 1.5 | Ensembl ENCODE dbSUPER | 12.5 | +39.9 | 39890 | 4.9 | HDGF HNRNPUL1 PKNOX1 CLOCK SMAD1 FOXA2 MLX ARNT ARID4B FEZF1 | DGCR2 DGCR11 ESS2 UFD1 RPL7AP70 DGCR8 E2F6P1 GSC2 TBX1 PIR39211 | |
GH22I019168 | Enhancer | 0.7 | ENCODE | 0.4 | -18.1 | -18060 | 0 | HDAC1 CTCF PKNOX1 CLOCK RB1 ARNT SIN3A RAD21 CTBP1 EGR1 | LINC01311 GSC2 | |
GH22I019159 | Enhancer | 0.5 | Ensembl | 0.4 | -9.6 | -9618 | 0.2 | MITF BCOR HDAC2 DACH1 TRIM24 ZBTB33 DPF2 | SLC25A1 GSC2 LINC01311 |
- Top Transcription factor binding sites by QIAGEN in the GSC2 gene promoter:
Regulatory Element Products
Genomic Locations for GSC2 Gene
- chr22:19,148,576-19,150,283
- (GRCh38/hg38)
- Size:
- 1,708 bases
- Orientation:
- Minus strand
- chr22:19,136,089-19,137,796
- (GRCh37/hg19)
Genomic View for GSC2 Gene
- Cytogenetic band:
-
- 22q11.21 by Ensembl
- 22q11.21 by Entrez Gene
- 22q11.21 by HGNC


RefSeq DNA sequence for GSC2 Gene
Proteins for GSC2 Gene
-
Protein details for GSC2 Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- O15499-GSC2_HUMAN
- Recommended name:
- Homeobox protein goosecoid-2
- Protein Accession:
- O15499
Protein attributes for GSC2 Gene
- Size:
- 205 amino acids
- Molecular mass:
- 21545 Da
- Quaternary structure:
- No Data Available
Protein Expression for GSC2 Gene
Post-translational modifications for GSC2 Gene
Other Protein References for GSC2 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
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-
Abcam antibodies for GSC2
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Protein Products
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Assay Products
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No data available for DME Specific Peptides for GSC2 Gene
Domains & Families for GSC2 Gene
Gene Families for GSC2 Gene
- HGNC:
- Human Protein Atlas (HPA):
-
- Predicted intracellular proteins
- Transcription factors
Protein Domains for GSC2 Gene
- InterPro:
- ProtoNet:
Suggested Antigen Peptide Sequences for GSC2 Gene
- GenScript: Design optimal peptide antigens:
Graphical View of Domain Structure for InterPro Entry
O15499- Family:
-
- Belongs to the paired homeobox family. Bicoid subfamily.
Function for GSC2 Gene
Molecular function for GSC2 Gene
- UniProtKB/Swiss-Prot Function:
- May have a role in development. May regulate its own transcription. May bind the bicoid consensus sequence TAATCC.
Phenotypes From GWAS Catalog for GSC2 Gene
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000981 | RNA polymerase II transcription factor activity, sequence-specific DNA binding | IC | -- |
GO:0003677 | DNA binding | TAS | 9441739 |
GO:0003700 | DNA binding transcription factor activity | IDA | 9700206 |
GO:0043565 | sequence-specific DNA binding | IDA | 23332764 |
Phenotypes for GSC2 Gene
- MGI mutant phenotypes for GSC2:
- inferred from 2 alleles
- GenomeRNAi human phenotypes for GSC2:
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-
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-
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- Mammalian expression: PiggyBac
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- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
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-
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No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , miRNA , Transcription Factor Targets and HOMER Transcription for GSC2 Gene
Localization for GSC2 Gene
Subcellular locations from UniProtKB/Swiss-Prot for GSC2 Gene
- Nucleus.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005634 | nucleus | IEA | -- |
No data available for Subcellular locations from the Human Protein Atlas (HPA) for GSC2 Gene
Pathways & Interactions for GSC2 Gene
Interacting Proteins for GSC2 Gene
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 |
No data available for Pathways by source and SIGNOR curated interactions for GSC2 Gene
Transcripts for GSC2 Gene
mRNA/cDNA for GSC2 Gene
- (1) REFSEQ mRNAs :
- (0) Additional mRNA sequences :
- -
- (1) Selected AceView cDNA sequences:
- (1) Ensembl transcripts including schematic representations, and UCSC links where relevant :
CRISPR Products
-
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-
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Clone Products
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-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- genomics-online: cdna clones - Search results for available GSC2 gene related products
- orf clones - Search results for available GSC2 gene related products
- Applied Biological Materials Clones for GSC2
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
Expression for GSC2 Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
- Brain (Nervous System)
- Neural Tube (Nervous System)
mRNA differential expression in normal tissues according to GTEx for GSC2 Gene
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for GSC2 Gene
NURSA nuclear receptor signaling pathways regulating expression of GSC2 Gene:
GSC2SOURCE GeneReport for Unigene cluster for GSC2 Gene:
Hs.534318mRNA Expression by UniProt/SwissProt for GSC2 Gene:
O15499-GSC2_HUMANPrimer Products
-
OriGene qPCR primer pairs for GSC2
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No data available for Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for GSC2 Gene
Orthologs for GSC2 Gene
This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
mouse (Mus musculus) |
Mammalia | Gsc2 33 16 34 |
|
||
rat (Rattus norvegicus) |
Mammalia | Gsc2 33 |
|
||
cow (Bos Taurus) |
Mammalia | GSC2 34 |
|
OneToOne | |
platypus (Ornithorhynchus anatinus) |
Mammalia | GSC2 34 |
|
OneToOne | |
chicken (Gallus gallus) |
Aves | GSC2 33 34 |
|
||
lizard (Anolis carolinensis) |
Reptilia | GSC2 34 |
|
OneToOne | |
tropical clawed frog (Silurana tropicalis) |
Amphibia | gsc2 33 |
|
||
zebrafish (Danio rerio) |
Actinopterygii | LOC101885810 33 |
|
||
zgc:101100 34 |
|
ManyToMany | |||
fruit fly (Drosophila melanogaster) |
Insecta | Gsc 34 |
|
OneToMany | |
worm (Caenorhabditis elegans) |
Secernentea | ceh-45 34 |
|
OneToMany |
- Species where no ortholog for GSC2 was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Ashbya gossypii)
- Actinobacteria (Mycobacterium tuberculosis)
- African clawed frog (Xenopus laevis)
- African malaria mosquito (Anopheles gambiae)
- Alicante grape (Vitis vinifera)
- alpha proteobacteria (Wolbachia pipientis)
- amoeba (Dictyostelium discoideum)
- Archea (Pyrococcus horikoshii)
- baker's yeast (Saccharomyces cerevisiae)
- barley (Hordeum vulgare)
- beta proteobacteria (Neisseria meningitidis)
- bread mold (Neurospora crassa)
- chimpanzee (Pan troglodytes)
- Chromalveolata (Phytophthora infestans)
- common water flea (Daphnia pulex)
- corn (Zea mays)
- dog (Canis familiaris)
- E. coli (Escherichia coli)
- filamentous fungi (Aspergillus nidulans)
- Firmicute bacteria (Streptococcus pneumoniae)
- fission yeast (Schizosaccharomyces pombe)
- green algae (Chlamydomonas reinhardtii)
- honey bee (Apis mellifera)
- K. lactis yeast (Kluyveromyces lactis)
- loblloly pine (Pinus taeda)
- malaria parasite (Plasmodium falciparum)
- medicago trunc (Medicago Truncatula)
- moss (Physcomitrella patens)
- oppossum (Monodelphis domestica)
- orangutan (Pongo pygmaeus)
- pig (Sus scrofa)
- rainbow trout (Oncorhynchus mykiss)
- rice (Oryza sativa)
- rice blast fungus (Magnaporthe grisea)
- schistosome parasite (Schistosoma mansoni)
- sea anemone (Nematostella vectensis)
- sea squirt (Ciona intestinalis)
- sea squirt (Ciona savignyi)
- sea urchin (Strongylocentrotus purpuratus)
- sorghum (Sorghum bicolor)
- soybean (Glycine max)
- stem rust fungus (Puccinia graminis)
- sugarcane (Saccharum officinarum)
- thale cress (Arabidopsis thaliana)
- tomato (Lycopersicon esculentum)
- toxoplasmosis (Toxoplasma gondii)
- Trichoplax (Trichoplax adhaerens)
- wheat (Triticum aestivum)
Paralogs for GSC2 Gene
Variants for GSC2 Gene
SNP ID | Clin | Chr 22 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
rs1000833361 | -- | 19,151,594(-) | C/G | upstream_transcript_variant | |
rs1000906962 | -- | 19,151,853(-) | A/G | upstream_transcript_variant | |
rs1001099218 | -- | 19,152,029(-) | G/A | upstream_transcript_variant | |
rs1001983311 | -- | 19,149,212(-) | G/C | intron_variant | |
rs1003190868 | -- | 19,148,600(-) | A/G | downstream_transcript_variant |
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 |
Additional Variant Information for GSC2 Gene
- SNPedia medical, phenotypic, and genealogical associations of SNPs for
- GSC2
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for GSC2 Gene
Disorders for GSC2 Gene
Disorder | Aliases | PubMed IDs |
---|---|---|
digeorge syndrome |
|
|
velocardiofacial syndrome |
|
|
chromosomal deletion syndrome |
|
|
Additional Disease Information for GSC2
- Genetic Association Database
- (GAD)
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
No data available for UniProtKB/Swiss-Prot and Genatlas for GSC2 Gene
Publications for GSC2 Gene
- The DiGeorge syndrome minimal critical region contains a goosecoid-like (GSCL) homeobox gene that is expressed early in human development. (PMID: 9150167) Gottlieb S … Budarf ML (American journal of human genetics 1997) 2 3 4 22 58
- Characterization and mutation analysis of goosecoid-like (GSCL), a homeodomain-containing gene that maps to the critical region for VCFS/DGS on 22q11. (PMID: 9441739) Funke B … Morrow BE (Genomics 1997) 3 4 58
- DNA-binding specificities of human transcription factors. (PMID: 23332764) Jolma A … Taipale J (Cell 2013) 3 58
- Novel Loci for metabolic networks and multi-tissue expression studies reveal genes for atherosclerosis. (PMID: 22916037) Inouye M … de Bakker PI (PLoS genetics 2012) 3 58
- Genome-wide association study identifies multiple loci influencing human serum metabolite levels. (PMID: 22286219) Kettunen J … Ripatti S (Nature genetics 2012) 44 58
Products for GSC2 Gene
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- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- antibodies-online: Search results for 15 available GSC2 Antibodies ranked by validation data
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Sources for GSC2 Gene
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