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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
  • 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 PITX3.

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 Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for GSC2 Gene

Genomics for GSC2 Gene

Regulatory Elements for GSC2 Gene

Enhancers for GSC2 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around GSC2 on UCSC Golden Path with GeneCards custom track

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 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

Proteomics data for GSC2 Gene at MOPED

Post-translational modifications for GSC2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for GSC2 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

No data available for DME Specific Peptides for GSC2 Gene

Domains & Families for GSC2 Gene

Gene Families for GSC2 Gene

Protein Domains for GSC2 Gene

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 :
  • Contains 1 homeobox DNA-binding domain.
  • Belongs to the paired homeobox family. Bicoid subfamily.
Domain:
  • Contains 1 homeobox DNA-binding domain.
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.

Gene Ontology (GO) - Molecular Function for GSC2 Gene

GO ID Qualified GO term Evidence PubMed IDs
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

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
Jensen Localization Image for GSC2 Gene COMPARTMENTS Subcellular localization image for GSC2 gene
Compartment Confidence
nucleus 5

No data available for Gene Ontology (GO) - Cellular Components for GSC2 Gene

Pathways & Interactions for GSC2 Gene

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 --
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 :
(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:

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

mRNA expression in normal human tissues 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



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

Protein tissue co-expression partners for GSC2 Gene

Primer Products

In Situ Assay Products

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 35
  • 78.92 (n)
  • 77.3 (a)
Gsc2 16
Gsc2 36
  • 71 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Gsc2 35
  • 78.38 (n)
  • 76.22 (a)
cow
(Bos Taurus)
Mammalia GSC2 36
  • 70 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia GSC2 36
  • 46 (a)
OneToOne
chicken
(Gallus gallus)
Aves GSC2 35
  • 65.47 (n)
  • 65.77 (a)
GSC2 36
  • 47 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia GSC2 36
  • 48 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia gsc2 35
  • 59.05 (n)
  • 61.9 (a)
zebrafish
(Danio rerio)
Actinopterygii LOC101885810 35
  • 64.34 (n)
  • 68.6 (a)
zgc:101100 36
  • 19 (a)
ManyToMany
fruit fly
(Drosophila melanogaster)
Insecta Gsc 36
  • 16 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea ceh-45 36
  • 26 (a)
OneToMany
Species with no ortholog for GSC2:
  • 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
rs34341950 - 19,150,145(-) CCGGT(C/T)GCCAG reference, missense
rs7292851 -- 19,150,978(+) AGGCC(A/C)CTCCT upstream-variant-2KB
rs8138317 -- 19,150,744(+) GAAGC(C/T)CGGCC upstream-variant-2KB
rs3761405 -- 19,151,855(+) CCCAA(C/G)ATTTG upstream-variant-2KB
rs3761406 -- 19,152,050(+) TCCAC(C/T)ACCAA upstream-variant-2KB

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

Variant ID Type Subtype PubMed ID
nsv435744 CNV Deletion 17901297
nsv914263 CNV Gain 21882294
nsv914268 CNV Gain 21882294
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

HapMap Linkage Disequilibrium report
GSC2

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: GeneCards

Disorder Aliases PubMed IDs
digeorge syndrome
  • digeorge sequence
velocardiofacial syndrome
  • cayler cardiofacial 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 23 67
  2. 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
  3. 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
  4. Goosecoid-like, a gene deleted in DiGeorge and velocardiofacial syndromes, recognizes DNA with a bicoid-like specificity and is expressed in the developing mouse brain. (PMID: 9700206) Gottlieb S. … Budarf M.L. (Hum. Mol. Genet. 1998) 3
  5. 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

Products for GSC2 Gene

Sources for GSC2 Gene

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