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GSC2 Gene(Protein Coding)

Goosecoid Homeobox 2

GCID:
GC22M019136
GIFtS:
45
Genes Participants
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Aliases for GSC2 Gene

Aliases for GSC2 Gene

  • Goosecoid Homeobox 2 2 3 5
  • GSC-2 3 4
  • GSC-L 3 4
  • GSCL 3 4
  • Homeobox Protein Goosecoid-Like 4
  • Homeobox Protein Goosecoid-2 3
  • Goosecoid-Like 2

External Ids for GSC2 Gene

Previous HGNC Symbols for GSC2 Gene

  • GSCL

Previous GeneCards Identifiers for GSC2 Gene

  • GC22M017516

Summaries for GSC2 Gene

Entrez Gene Summary 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. GO annotations related to this gene include transcription factor activity, sequence-specific DNA binding 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

Products:

  1. Regulatory Element

Regulatory Elements for GSC2 Gene

Enhancers for GSC2 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH22G019169 1.7 Ensembl ENCODE dbSUPER 14 -24.4 -24410 11.2 MLX CREB3L1 FEZF1 DMAP1 YY1 SLC30A9 ZNF143 ZNF263 MCM3 SP3 SLC25A1 CLTCL1 LINC01311 E2F6P1 GSC2 DGCR14 TSSK2 TSSK1A ENSG00000223461 DGCR2
GH22G019107 1.6 Ensembl ENCODE dbSUPER 12.5 +39.9 39891 4.9 HNRNPUL1 HDGF PKNOX1 FOXA2 MLX CREB3L1 ARNT ARID4B FEZF1 YY1 DGCR2 E2F6P1 DGCR14 GSC2 TBX1 RPL7AP70 DGCR11 PIR39211 ENSG00000223461
GH22G019168 0.8 ENCODE 0.4 -18.1 -18060 0.0 HDAC1 CTCF PKNOX1 ESRRA RB1 ARNT DDX20 SIN3A RAD21 CTBP1 LINC01311 GSC2
GH22G019159 0.6 Ensembl 0.4 -9.6 -9618 0.2 BCOR CTCF DPF2 HDAC2 TARDBP IRF1 TRIM24 ZBTB33 EZH2 SLC25A1 GSC2 LINC01311
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around GSC2 on UCSC Golden Path with GeneCards custom track

Transcription factor binding sites by QIAGEN in the GSC2 gene promoter:

Genomic Location for GSC2 Gene

Chromosome:
22
Start:
19,148,576 bp from pter
End:
19,150,283 bp from pter
Size:
1,708 bases
Orientation:
Minus strand

Genomic View for GSC2 Gene

Genes around GSC2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
GSC2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for GSC2 Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for GSC2 Gene

Proteins for GSC2 Gene

Products:

  1. Antibody
  2. Protein
  3. Assay

  • 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

neXtProt entry for GSC2 Gene

Protein Expression for GSC2 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for GSC2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for GSC2 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for GSC2 Gene

Domains & Families for GSC2 Gene

Gene Families for GSC2 Gene

HGNC:

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

UniProtKB/Swiss-Prot:

GSC2_HUMAN :
  • Belongs to the paired homeobox family. Bicoid subfamily.
Family:
  • Belongs to the paired homeobox family. Bicoid subfamily.
genes like me logo Genes that share domains with GSC2: view

Function for GSC2 Gene

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  1. Animal Model
  2. CRISPR
  3. miRNA
  4. Inhibitory RNA
  5. Clone
  6. Cell Line
  7. Flow Cytometry

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.

Gene Ontology (GO) - Molecular Function for GSC2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003677 DNA binding TAS 9441739
GO:0003700 transcription factor activity, sequence-specific DNA binding IDA 9700206
GO:0043565 sequence-specific DNA binding IEA --
genes like me logo Genes that share ontologies with GSC2: view

Phenotypes for GSC2 Gene

MGI mutant phenotypes for GSC2:
inferred from 2 alleles
GenomeRNAi human phenotypes for GSC2:
genes like me logo Genes that share phenotypes with GSC2: view

Animal Models for GSC2 Gene

MGI Knock Outs for GSC2:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

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.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for GSC2 gene
Compartment Confidence
nucleus 5

Gene Ontology (GO) - Cellular Components for GSC2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
genes like me logo Genes that share ontologies with GSC2: view

Pathways & Interactions for GSC2 Gene

SuperPathways for GSC2 Gene

PathCards logo More details on SuperPathways for GSC2
No Data Available

Gene Ontology (GO) - Biological Process for GSC2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006355 regulation of transcription, DNA-templated IEA --
GO:0006357 regulation of transcription from RNA polymerase II promoter IDA 9700206
GO:0009653 anatomical structure morphogenesis TAS 9150167
genes like me logo Genes that share ontologies with GSC2: view

No data available for Pathways by source and SIGNOR curated interactions for GSC2 Gene

Drugs & Compounds for GSC2 Gene

Products:

  1. Drug
No Compound Related Data Available

Transcripts for GSC2 Gene

Products:

  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone
  5. Flow Cytometry

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 :

Unigene Clusters for GSC2 Gene

Goosecoid homeobox 2:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for GSC2 Gene

No ASD Table

Relevant External Links for GSC2 Gene

GeneLoc Exon Structure for
GSC2
ECgene alternative splicing isoforms for
GSC2

Expression for GSC2 Gene

Products:

  1. Primer

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for GSC2 Gene

mRNA expression in normal human tissues for GSC2 Gene
mRNA expression by BioGPS for GSC2 GenemRNA expression by GTEx for GSC2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for GSC2 Gene

This gene is overexpressed in Testis (x42.1).

Protein differential expression in normal tissues from HIPED for GSC2 Gene

This gene is overexpressed in Adipocyte (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for GSC2 Gene



Protein tissue co-expression partners for GSC2 Gene

NURSA nuclear receptor signaling pathways regulating expression of GSC2 Gene:

GSC2

SOURCE GeneReport for Unigene cluster for GSC2 Gene:

Hs.534318

mRNA Expression by UniProt/SwissProt for GSC2 Gene:

O15499-GSC2_HUMAN
Tissue specificity: Detected in adult testis and pituitary, and in 9-10 week fetal tissue (thorax). Probably expressed in other tissues at low levels.
genes like me logo Genes that share expression patterns with GSC2: view

Primer Products

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.

Orthologs for GSC2 Gene

Organism Taxonomy Gene Similarity Type Details
mouse
(Mus musculus)
 Mammalia Gsc2 34 16 35
  • 78.92 (n)
rat
(Rattus norvegicus)
 Mammalia Gsc2 34
  • 78.38 (n)
cow
(Bos Taurus)
 Mammalia GSC2 35
  • 70 (a)
 OneToOne
platypus
(Ornithorhynchus anatinus)
 Mammalia GSC2 35
  • 46 (a)
 OneToOne
chicken
(Gallus gallus)
 Aves GSC2 34 35
  • 65.47 (n)
lizard
(Anolis carolinensis)
 Reptilia GSC2 35
  • 48 (a)
 OneToOne
tropical clawed frog
(Silurana tropicalis)
 Amphibia gsc2 34
  • 59.05 (n)
zebrafish
(Danio rerio)
 Actinopterygii LOC101885810 34
  • 64.34 (n)
zgc:101100 35
  • 19 (a)
 ManyToMany
fruit fly
(Drosophila melanogaster)
 Insecta Gsc 35
  • 16 (a)
 OneToMany
worm
(Caenorhabditis elegans)
 Secernentea ceh-45 35
  • 26 (a)
 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)

Evolution for GSC2 Gene

ENSEMBL:
Gene Tree for GSC2 (if available)
TreeFam:
Gene Tree for GSC2 (if available)

Paralogs for GSC2 Gene

Paralogs for GSC2 Gene

(3) SIMAP similar genes for GSC2 Gene using alignment to 1 proteins:

genes like me logo Genes that share paralogs with GSC2: view

Variants for GSC2 Gene

Sequence variations from dbSNP and Humsavar for GSC2 Gene

SNP ID Clin Chr 22 pos Sequence Context AA Info Type
rs1000833361 -- 19,151,594(+) GGTTT(C/G)CCAGG upstream-variant-2KB
rs1000906962 -- 19,151,853(+) AGCCC(A/G)ACATT upstream-variant-2KB
rs1001099218 -- 19,152,029(+) AGCCT(A/G)CTCCA upstream-variant-2KB
rs1001983311 -- 19,149,212(+) GCGCT(C/G)TAGAG intron-variant
rs1003190868 -- 19,148,600(+) GGTCA(A/G)TGTCC downstream-variant-500B

Structural Variations from Database of Genomic Variants (DGV) for GSC2 Gene

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

Variation tolerance for GSC2 Gene

Gene Damage Index Score: 5.00; 68.36% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links 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

MalaCards: The human disease database

(3) MalaCards diseases for GSC2 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
digeorge syndrome
  • digeorge sequence
velocardiofacial syndrome
  • 22q11 deletion syndrome
chromosomal deletion syndrome
- elite association - COSMIC cancer census association via MalaCards
Search GSC2 in MalaCards View complete list of genes associated with diseases

Relevant External Links for GSC2

Genetic Association Database (GAD)
GSC2
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
GSC2
genes like me logo Genes that share disorders with GSC2: view

No data available for UniProtKB/Swiss-Prot and Genatlas for GSC2 Gene

Publications for GSC2 Gene

  1. 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 M.L. (Am. J. Hum. Genet. 1997) 2 3 4 22 64
  2. 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 B.E. (Genomics 1997) 3 4 64
  3. Novel Loci for metabolic networks and multi-tissue expression studies reveal genes for atherosclerosis. (PMID: 22916037) Inouye M. … de Bakker P.I. (PLoS Genet. 2012) 3 64
  4. Genome-wide association study identifies multiple loci influencing human serum metabolite levels. (PMID: 22286219) Kettunen J. … Ripatti S. (Nat. Genet. 2012) 46 64
  5. Rnf4, a RING protein expressed in the developing nervous and reproductive systems, interacts with Gscl, a gene within the DiGeorge critical region. (PMID: 10822263) Galili N. … Buck C.A. (Dev. Dyn. 2000) 3 64

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