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 del... See more...

Aliases for GSC2 Gene

Aliases for GSC2 Gene

  • Goosecoid Homeobox 2 2 3 5
  • Homeobox Protein Goosecoid-2 3 4
  • GSCL 3 4
  • Homeobox Protein Goosecoid-Like 4
  • Goosecoid-Like 2
  • GSC-2 4
  • GSC-L 4
  • GSC2 5

External Ids for GSC2 Gene

Previous HGNC Symbols for GSC2 Gene

  • GSCL

Previous GeneCards Identifiers for GSC2 Gene

  • GC22M017516
  • GC22M019136

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. 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 Summary for GSC2 Gene

  • May have a role in development. May regulate its own transcription. May bind the bicoid consensus sequence TAATCC.

Additional gene information for GSC2 Gene

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for GSC2 Gene

Genomics for GSC2 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers 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
GH22J019150 Promoter 0.7 Ensembl 600.7 +0.4 391 1.4 EZH2 ZNF341 SP2 ZBTB26 ZBTB11 ZNF335 KLF1 ZBTB8A GSC2 ESS2
GH22J019169 Promoter/Enhancer 2.4 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 14 -24.5 -24509 11.2 ARHGAP35 SP1 HNRNPL CREB1 CTCF TEAD4 PRDM10 ZNF629 TFE3 SIX5 SLC25A1 CLTCL1 CDC45 GSC2 ESS2 TSSK2 TSSK1A ENSG00000223461 DGCR2 UFD1
GH22J019107 Promoter/Enhancer 1.5 Ensembl ENCODE dbSUPER 12.5 +39.9 39899 4.9 ARHGAP35 CEBPG GATAD2A CTCF ZBTB33 ZNF512 RFX1 LEF1 IKZF1 RCOR2 DGCR2 DGCR11 ESS2 UFD1 RPL7AP70 DGCR8 E2F6P1 GSC2 TBX1 piR-46212
GH22J019152 Enhancer 0.5 Ensembl 0.7 -3.2 -3209 0.6 TARDBP ZNF707 ZBTB5 RFX5 HLF RAD51 CBFA2T2 ZNF121 TRMT2A ESS2 RANBP1 GSC2 LINC01311 SLC25A1
GH22J019159 Enhancer 0.7 Ensembl 0.4 -9.3 -9308 2 REST CBX3 NKRF FOXK2 HDAC2 MCM3 TRIM25 BCOR CEBPG CREM SLC25A1 RPL7AP70 DGCR11 GSC2 LINC01311
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around GSC2 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for GSC2

Top Transcription factor binding sites by QIAGEN in the GSC2 gene promoter:
  • AP-2alpha
  • AP-2alphaA
  • AP-2beta
  • E47
  • GATA-1
  • IRF-7A
  • PPAR-gamma1
  • PPAR-gamma2

Genomic Locations for GSC2 Gene

Genomic Locations for GSC2 Gene
chr22:19,146,993-19,150,292
(GRCh38/hg38)
Size:
3,300 bases
Orientation:
Minus strand
chr22:19,136,089-19,137,796
(GRCh37/hg19)
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 StructureGene Density

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

neXtProt entry for GSC2 Gene

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:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins
  • Transcription factors

Protein Domains for GSC2 Gene

Suggested Antigen Peptide Sequences for GSC2 Gene

GenScript: Design optimal peptide antigens:
  • Homeobox protein goosecoid-like (GSC2_HUMAN)

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

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

Gene Ontology (GO) - Molecular Function for GSC2 Gene

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

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for GSC2

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

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 4
plasma membrane 1
extracellular 1
cytoskeleton 1
mitochondrion 1
endoplasmic reticulum 1
cytosol 1

Gene Ontology (GO) - Cellular Components for GSC2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000790 nuclear chromatin ISA --
GO:0005634 nucleus IEA --
genes like me logo Genes that share ontologies with GSC2: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for GSC2 Gene

Pathways & Interactions for GSC2 Gene

PathCards logo

SuperPathways for GSC2 Gene

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 by RNA polymerase II 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

No Compound Related Data Available

Transcripts for GSC2 Gene

mRNA/cDNA for GSC2 Gene

1 REFSEQ mRNAs :
1 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for GSC2

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

No ASD Table

Relevant External Links for GSC2 Gene

GeneLoc Exon Structure for
GSC2

Expression for GSC2 Gene

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



Protein tissue co-expression partners for GSC2 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for 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.

Evidence on tissue expression from TISSUES for GSC2 Gene

  • Nervous system(2.2)
  • Skin(2.1)
genes like me logo Genes that share expression patterns with GSC2: view

No data available for 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 30 17 31
  • 78.92 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Gsc2 30
  • 78.38 (n)
Cow
(Bos Taurus)
Mammalia GSC2 31
  • 70 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia GSC2 31
  • 46 (a)
OneToOne
Chicken
(Gallus gallus)
Aves GSC2 30 31
  • 65.47 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia GSC2 31
  • 48 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia gsc2 30
  • 59.05 (n)
Zebrafish
(Danio rerio)
Actinopterygii LOC101885810 30
  • 64.34 (n)
zgc:101100 31
  • 19 (a)
ManyToMany
Fruit Fly
(Drosophila melanogaster)
Insecta Gsc 31
  • 16 (a)
OneToMany
Worm
(Caenorhabditis elegans)
Secernentea ceh-45 31
  • 26 (a)
OneToMany
Species where no ortholog for GSC2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (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)
Aminode:
Evolutionary constrained regions (ECRs) for GSC2: view image

Paralogs for GSC2 Gene

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

  • GSC2_HUMAN
genes like me logo Genes that share paralogs with GSC2: view

Variants for GSC2 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for GSC2 Gene

SNP ID Clinical significance and condition Chr 22 pos Variation AA Info Type
rs34341950 - p.Arg47Cys

Additional dbSNP identifiers (rs#s) for GSC2 Gene

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)

Additional Variant Information for GSC2 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
GSC2

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for GSC2 Gene

Disorders for GSC2 Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
digeorge syndrome
  • cayler cardiofacial syndrome
velocardiofacial syndrome
  • digeorge syndrome
- elite association - COSMIC cancer census association via MalaCards
Search GSC2 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for 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 ML (American journal of human genetics 1997) 2 3 4 23
  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 BE (Genomics 1997) 3 4
  3. A reference map of the human binary protein interactome. (PMID: 32296183) Luck K … Calderwood MA (Nature 2020) 3
  4. DNA-binding specificities of human transcription factors. (PMID: 23332764) Jolma A … Taipale J (Cell 2013) 3
  5. 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

Products for GSC2 Gene

  • Boster Bio Antibodies for GSC2
  • Boster Bio ELISA Kits for GSC2

Sources for GSC2 Gene