Free for academic non-profit institutions. Other users need a Commercial license

Aliases for GSC Gene

Aliases for GSC Gene

  • Goosecoid Homeobox 2 3
  • SAMS 3 6
  • Homeobox Protein Goosecoid 3

External Ids for GSC Gene

Previous GeneCards Identifiers for GSC Gene

  • GC14U990025
  • GC14M089051
  • GC14M093224
  • GC14M094304
  • GC14M095234
  • GC14M075414

Summaries for GSC Gene

Entrez Gene Summary for GSC Gene

  • This gene encodes a member of the bicoid subfamily of the paired (PRD) homeobox family of proteins. The encoded protein acts as a transcription factor and may be autoregulatory. A similar protein in mice plays a role in craniofacial and rib cage development during embryogenesis. [provided by RefSeq, Jul 2008]

GeneCards Summary for GSC Gene

GSC (Goosecoid Homeobox) is a Protein Coding gene. Diseases associated with GSC include short stature, auditory canal atresia, mandibular hypoplasia, skeletal abnormalities and short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome. Among its related pathways are Regulation of nuclear SMAD2/3 signaling and Regulation of retinoblastoma protein. GO annotations related to this gene include sequence-specific DNA binding transcription factor activity and RNA polymerase II transcription factor binding. An important paralog of this gene is PITX3.

UniProtKB/Swiss-Prot for GSC Gene

  • Regulates chordin (CHRD). May play a role in spatial programing within discrete embryonic fields or lineage compartments during organogenesis. In concert with NKX3-2, plays a role in defining the structural components of the middle ear; required for the development of the entire tympanic ring (By similarity). Probably involved in the regulatory networks that define neural crest cell fate specification and determine mesoderm cell lineages in mammals.

Gene Wiki entry for GSC Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for GSC Gene

Genomics for GSC Gene

Regulatory Elements for GSC Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for GSC Gene

Start:
94,768,216 bp from pter
End:
94,770,230 bp from pter
Size:
2,015 bases
Orientation:
Minus strand

Genomic View for GSC Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for GSC Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for GSC Gene

Proteins for GSC Gene

  • Protein details for GSC Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P56915-GSC_HUMAN
    Recommended name:
    Homeobox protein goosecoid
    Protein Accession:
    P56915
    Secondary Accessions:
    • Q86YR1

    Protein attributes for GSC Gene

    Size:
    257 amino acids
    Molecular mass:
    28150 Da
    Quaternary structure:
    No Data Available

    Three dimensional structures from OCA and Proteopedia for GSC Gene

neXtProt entry for GSC Gene

Proteomics data for GSC Gene at MOPED

Post-translational modifications for GSC Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for GSC Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

No data available for DME Specific Peptides for GSC Gene

Domains for GSC Gene

Gene Families for GSC Gene

HGNC:
  • PRD :Homeoboxes / PRD class

Protein Domains for GSC Gene

Suggested Antigen Peptide Sequences for GSC Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

P56915

UniProtKB/Swiss-Prot:

GSC_HUMAN :
  • P56915
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 GSC: view

Function for GSC Gene

Molecular function for GSC Gene

GENATLAS Biochemistry:
Xenopus goosecoid homologous,homeo domain encoding gene,expressed during,and involved in,gastrulation process
UniProtKB/Swiss-Prot Function:
Regulates chordin (CHRD). May play a role in spatial programing within discrete embryonic fields or lineage compartments during organogenesis. In concert with NKX3-2, plays a role in defining the structural components of the middle ear; required for the development of the entire tympanic ring (By similarity). Probably involved in the regulatory networks that define neural crest cell fate specification and determine mesoderm cell lineages in mammals.

Gene Ontology (GO) - Molecular Function for GSC Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001085 RNA polymerase II transcription factor binding ISS --
GO:0001103 RNA polymerase II repressing transcription factor binding ISS --
GO:0003677 DNA binding --
GO:0005515 protein binding --
GO:0043565 sequence-specific DNA binding IEA --
genes like me logo Genes that share ontologies with GSC: view
genes like me logo Genes that share phenotypes with GSC: view

Animal Models for GSC Gene

MGI Knock Outs for GSC:

Animal Model Products

miRNA for GSC Gene

miRTarBase miRNAs that target GSC

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for GSC

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targeting and HOMER Transcription for GSC Gene

Localization for GSC Gene

Subcellular locations from UniProtKB/Swiss-Prot for GSC Gene

Nucleus.

Subcellular locations from

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

Gene Ontology (GO) - Cellular Components for GSC Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
GO:0005667 transcription factor complex IEA --
genes like me logo Genes that share ontologies with GSC: view

Pathways for GSC Gene

genes like me logo Genes that share pathways with GSC: view

Pathways by source for GSC Gene

PCR Array Products

  • Pathway & Disease-focused RT² Profiler PCR Arrays

Gene Ontology (GO) - Biological Process for GSC Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000122 negative regulation of transcription from RNA polymerase II promoter IEA --
GO:0007369 gastrulation NAS 7916327
GO:0009653 anatomical structure morphogenesis --
GO:0014036 neural crest cell fate specification IMP 24290375
GO:0021904 dorsal/ventral neural tube patterning IEA --
genes like me logo Genes that share ontologies with GSC: view

Transcripts for GSC Gene

mRNA/cDNA for GSC Gene

(11) Selected AceView cDNA sequences:
(2) Additional mRNA sequences :
(1) REFSEQ mRNAs :
(1) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for GSC Gene

Goosecoid homeobox:
Representative Sequences:

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for GSC

Primer Products

Flow Cytometry Products

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

No ASD Table

Relevant External Links for GSC Gene

GeneLoc Exon Structure for
GSC
ECgene alternative splicing isoforms for
GSC

Expression for GSC Gene

mRNA expression in normal human tissues for GSC Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

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

This gene is overexpressed in Breast - Mammary Tissue (12.7), Adipose - Subcutaneous (6.1), and Adipose - Visceral (Omentum) (5.1).

Protein differential expression in normal tissues for GSC Gene

This gene is overexpressed in Platelet (69.0).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, and MOPED for GSC Gene

SOURCE GeneReport for Unigene cluster for GSC Gene Hs.440438

genes like me logo Genes that share expressions with GSC: view

Expression partners for GSC Gene

In Situ Assay Products

No data available for mRNA Expression by UniProt/SwissProt for GSC Gene

Orthologs for GSC Gene

This gene was present in the common ancestor of animals.

Orthologs for GSC Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia GSC 35
  • 94.01 (n)
  • 95.7 (a)
GSC 36
  • 96 (a)
OneToOne
dog
(Canis familiaris)
Mammalia GSC 35
  • 94.95 (n)
  • 98.8 (a)
GSC 36
  • 97 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Gsc 35
  • 92.71 (n)
  • 97.27 (a)
Gsc 16
Gsc 36
  • 97 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia GSC 35
  • 99.61 (n)
  • 99.61 (a)
GSC 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Gsc 35
  • 92.71 (n)
  • 97.66 (a)
oppossum
(Monodelphis domestica)
Mammalia GSC 36
  • 86 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia GSC 36
  • 96 (a)
OneToOne
chicken
(Gallus gallus)
Aves GSC 35
  • 81.9 (n)
  • 89.8 (a)
GSC 36
  • 88 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia GSC 36
  • 81 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia gsc 35
  • 71.33 (n)
  • 79.84 (a)
African clawed frog
(Xenopus laevis)
Amphibia LOC397748 35
zebrafish
(Danio rerio)
Actinopterygii gsc 35
  • 69.33 (n)
  • 79.41 (a)
gsc 36
  • 77 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta Gsc 36
  • 19 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea ceh-45 36
  • 31 (a)
OneToMany
Species with no ortholog for GSC:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • 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)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • 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)
  • 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 GSC Gene

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

Paralogs for GSC Gene

Paralogs for GSC Gene

Selected SIMAP similar genes for GSC Gene using alignment to 1 proteins:

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

Variants for GSC Gene

Sequence variations from dbSNP and Humsavar for GSC Gene

SNP ID Clin Chr 14 pos Sequence Context AA Info Type MAF
rs1243531 -- 94,771,372(+) GCCTG(C/T)CCGAG upstream-variant-2KB
rs3850401 -- 94,768,105(+) GATCA(G/T)AGCTG downstream-variant-500B
rs3850402 -- 94,768,115(+) GCTCA(A/G)TTTTT downstream-variant-500B
rs3905049 -- 94,768,772(+) GGAGC(A/C)GCTCG intron-variant
rs4511463 -- 94,767,836(+) AGCTT(A/G)GAGCA downstream-variant-500B

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

Variant ID Type Subtype PubMed ID
nsv470662 CNV Gain 18288195
nsv902208 CNV Gain 21882294

Relevant External Links for GSC Gene

HapMap Linkage Disequilibrium report
GSC
Human Gene Mutation Database (HGMD)
GSC

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

Disorders for GSC Gene

(1) OMIM Diseases for GSC Gene (138890)

UniProtKB/Swiss-Prot

GSC_HUMAN
  • Short stature, auditory canal atresia, mandibular hypoplasia, skeletal abnormalities (SAMS) [MIM:602471]: An autosomal recessive developmental disorder with features of a first and second branchial arch syndrome, and with unique rhizomelic skeletal anomalies. Craniofacial abnormalities can lead to conductive hearing loss, respiratory insufficiency, and feeding difficulties. Skeletal features include bilateral humeral hypoplasia, humeroscapular synostosis, pelvic abnormalities, and proximal defects of the femora. Affected individuals may also have some features of a neurocristopathy or abnormal mesoderm development, such as urogenital anomalies, that are distinct from other branchial arch syndromes. {ECO:0000269 PubMed:24290375}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for GSC

Genetic Association Database (GAD)
GSC
Human Genome Epidemiology (HuGE) Navigator
GSC
genes like me logo Genes that share disorders with GSC: view

No data available for University of Copenhagen DISEASES , Novoseek inferred disease relationships and Genatlas for GSC Gene

Publications for GSC Gene

  1. Molecular cloning of the human homeobox gene goosecoid (GSC) and mapping of the gene to human chromosome 14q32.1. (PMID: 7916327) Blum M. … Sparkes R.S. (Genomics 1994) 2 3 4 23
  2. Environmental and genetic factors associated with congenital microtia: a case-control study in Jiangsu, China, 2004 to 2007. (PMID: 19935299) Zhang Q.G. … Shen H. (Plast. Reconstr. Surg. 2009) 3 23 48
  3. Joint regulation of the MAP1B promoter by HNF3beta/Foxa2 and Engrailed is the result of a highly conserved mechanism for direct interaction of homeoproteins and Fox transcription factors. (PMID: 12642491) Foucher I. … Trembleau A. (Development 2003) 3 23
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4
  5. A genome-wide association study identifies a novel major locus for glycemic control in type 1 diabetes, as measured by both A1C and glucose. (PMID: 19875614) Paterson A.D. … Bull S.B. (Diabetes 2010) 3 48

Products for GSC Gene

  • Addgene plasmids for GSC

Sources for GSC Gene

Back to Top

Content